SkyWhal3/ClinVar-STXBP1-NLP-Dataset-Pathogenic

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A: The variant NC_000001.11:g.1319313G>A in gene INTS11 is classified as 'Pathogenic' for Neurodevelopmental_disorder_with_motor_and_language_delay,_ocular_defects,_and_brain_abnormalities. Molecular consequence: SO:0001583: missense_variant,SO:0001627: intron_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0957386,MedGen:C5830596,OMIM:620428. Review status: no assertion criteria provided.

Q: What is the clinical significance of NC_000001.11:g.1321072C>A (INTS11, 1:1321072 C>A)?
A: The variant NC_000001.11:g.1321072C>A in gene INTS11 is classified as 'Pathogenic' for Neurodevelopmental_disorder_with_motor_and_language_delay,_ocular_defects,_and_brain_abnormalities. Molecular consequence: SO:0001583: missense_variant,SO:0001623: 5_prime_UTR_variant,SO:0001627: intron_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0957386,MedGen:C5830596,OMIM:620428. Review status: no assertion criteria provided.

Q: What is the clinical significance of NC_000001.11:g.1336516C>T (DVL1, 1:1336516 C>T)?
A: The variant NC_000001.11:g.1336516C>T in gene DVL1 is classified as 'Likely_pathogenic' for Autosomal_dominant_Robinow_syndrome_2. Molecular consequence: SO:0001574: splice_acceptor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331,Orphanet:3107,Orphanet:97360. Review status: no assertion criteria provided.

Q: What is the clinical significance of NC_000001.11:g.1337990_1338002del (DVL1, 1:1337984 CTGCTGACTCCCGG>C)?
A: The variant NC_000001.11:g.1337990_1338002del in gene DVL1 is classified as 'Likely_pathogenic' for not_provided. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MedGen:CN517202. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1337995del (DVL1, 1:1337992 TC>T)?
A: The variant NC_000001.11:g.1337995del in gene DVL1 is classified as 'Likely_pathogenic' for Autosomal_dominant_Robinow_syndrome_2. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331,Orphanet:3107,Orphanet:97360. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1337995_1338010del (DVL1, 1:1337992 TCCCGGTGCTGCCGCTG>T)?
A: The variant NC_000001.11:g.1337995_1338010del in gene DVL1 is classified as 'Likely_pathogenic' for Autosomal_dominant_Robinow_syndrome_2. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331,Orphanet:3107,Orphanet:97360. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1337997del (DVL1, 1:1337995 CG>C)?
A: The variant NC_000001.11:g.1337997del in gene DVL1 is classified as 'Pathogenic' for not_provided. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MedGen:C3661900. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1338000_1338004dup (DVL1, 1:1337999 G>GCTGCC)?
A: The variant NC_000001.11:g.1338000_1338004dup in gene DVL1 is classified as 'Likely_pathogenic' for Autosomal_dominant_Robinow_syndrome_2. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331,Orphanet:3107,Orphanet:97360. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1338001del (DVL1, 1:1338000 CT>C)?
A: The variant NC_000001.11:g.1338001del in gene DVL1 is classified as 'Pathogenic' for Autosomal_dominant_Robinow_syndrome_2. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331,Orphanet:3107,Orphanet:97360. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1338008_1338009dup (DVL1, 1:1338007 T>TGC)?
A: The variant NC_000001.11:g.1338008_1338009dup in gene DVL1 is classified as 'Likely_pathogenic' for Autosomal_dominant_Robinow_syndrome_1. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700,Orphanet:3107,Orphanet:97360. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1338026del (DVL1, 1:1338023 CG>C)?
A: The variant NC_000001.11:g.1338026del in gene DVL1 is classified as 'Pathogenic' for Autosomal_dominant_Robinow_syndrome_2. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331,Orphanet:3107,Orphanet:97360. Review status: no assertion criteria provided.

Q: What is the clinical significance of NC_000001.11:g.1338033_1338040delinsC (DVL1, 1:1338033 TAGGCAGG>C)?
A: The variant NC_000001.11:g.1338033_1338040delinsC in gene DVL1 is classified as 'Pathogenic' for Autosomal_dominant_Robinow_syndrome_2. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Indel. Disease database links: MONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331,Orphanet:3107,Orphanet:97360. Review status: no assertion criteria provided.

Q: What is the clinical significance of NC_000001.11:g.1338045_1338046delinsG (DVL1, 1:1338045 AA>G)?
A: The variant NC_000001.11:g.1338045_1338046delinsG in gene DVL1 is classified as 'Pathogenic' for Autosomal_dominant_Robinow_syndrome_2. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Indel. Disease database links: MONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331,Orphanet:3107,Orphanet:97360. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1338058del (DVL1, 1:1338053 TG>T)?
A: The variant NC_000001.11:g.1338058del in gene DVL1 is classified as 'Pathogenic' for Autosomal_dominant_Robinow_syndrome_1\|Autosomal_dominant_Robinow_syndrome_2. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700,Orphanet:3107,Orphanet:97360\|MONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331,Orphanet:3107,Orphanet:97360. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1338062del (DVL1, 1:1338059 TC>T)?
A: The variant NC_000001.11:g.1338062del in gene DVL1 is classified as 'Pathogenic' for Autosomal_dominant_Robinow_syndrome_2. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331,Orphanet:3107,Orphanet:97360. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1338089del (DVL1, 1:1338086 AC>A)?
A: The variant NC_000001.11:g.1338089del in gene DVL1 is classified as 'Pathogenic' for Autosomal_dominant_Robinow_syndrome_2. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331,Orphanet:3107,Orphanet:97360. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1338094del (DVL1, 1:1338092 AG>A)?
A: The variant NC_000001.11:g.1338094del in gene DVL1 is classified as 'Pathogenic' for Autosomal_dominant_Robinow_syndrome_2. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331,Orphanet:3107,Orphanet:97360. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1338097del (DVL1, 1:1338096 CA>C)?
A: The variant NC_000001.11:g.1338097del in gene DVL1 is classified as 'Pathogenic' for not_provided\|Autosomal_dominant_Robinow_syndrome_2. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MedGen:C3661900\|MONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331,Orphanet:3107,Orphanet:97360. Review status: criteria provided, multiple submitters, no conflicts.

Q: What is the clinical significance of NC_000001.11:g.1338107_1338119del (DVL1, 1:1338098 GGGGGCAGCCGGGT>G)?
A: The variant NC_000001.11:g.1338107_1338119del in gene DVL1 is classified as 'Pathogenic' for Autosomal_dominant_Robinow_syndrome_2. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331,Orphanet:3107,Orphanet:97360. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1338110del (DVL1, 1:1338107 CG>C)?
A: The variant NC_000001.11:g.1338110del in gene DVL1 is classified as 'Pathogenic' for Autosomal_dominant_Robinow_syndrome_2. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331,Orphanet:3107,Orphanet:97360. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1338111_1338123del (DVL1, 1:1338107 CGGGTGGGGCAGCG>C)?
A: The variant NC_000001.11:g.1338111_1338123del in gene DVL1 is classified as 'Pathogenic/Likely_pathogenic' for Autosomal_dominant_Robinow_syndrome_2. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331,Orphanet:3107,Orphanet:97360. Review status: criteria provided, multiple submitters, no conflicts.

Q: What is the clinical significance of NC_000001.11:g.1338115del (DVL1, 1:1338111 TG>T)?
A: The variant NC_000001.11:g.1338115del in gene DVL1 is classified as 'Pathogenic' for Inborn_genetic_diseases. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MeSH:D030342,MedGen:C0950123. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1338144del (DVL1, 1:1338143 AG>A)?
A: The variant NC_000001.11:g.1338144del in gene DVL1 is classified as 'Pathogenic' for Autosomal_dominant_Robinow_syndrome_2. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331,Orphanet:3107,Orphanet:97360. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1338531_1338538dup (DVL1, 1:1338529 G>GGCATTGGC)?
A: The variant NC_000001.11:g.1338531_1338538dup in gene DVL1 is classified as 'Likely_pathogenic' for not_provided. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MedGen:CN517202. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1339363G>T (DVL1, 1:1339363 G>T)?
A: The variant NC_000001.11:g.1339363G>T in gene DVL1 is classified as 'Pathogenic' for not_provided. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1342157C>G (DVL1, 1:1342157 C>G)?
A: The variant NC_000001.11:g.1342157C>G in gene DVL1 is classified as 'Likely_pathogenic' for Autosomal_dominant_Robinow_syndrome_2. Molecular consequence: SO:0001574: splice_acceptor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331,Orphanet:3107,Orphanet:97360. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1353913A>T (MXRA8, 1:1353913 A>T)?
A: The variant NC_000001.11:g.1353913A>T in gene MXRA8 is classified as 'Likely_pathogenic' for Abnormal_brain_morphology. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1435800GCGCGGAGCG[3] (VWA1, 1:1435798 T>TGGCGCGGAGC)?
A: The variant NC_000001.11:g.1435800GCGCGGAGCG[3] in gene VWA1 is classified as 'Pathogenic/Likely_pathogenic' for VWA1-related_disorder\|not_provided\|Neuromuscular_disease\|Neuronopathy,_distal_hereditary_motor,_autosomal_recessive_7. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Microsatellite. Disease database links: .\|MedGen:C3661900\|MONDO:MONDO:0019056,MeSH:D009468,MedGen:C0027868,Orphanet:68381\|MONDO:MONDO:0030977,MedGen:C5543119,OMIM:619216. Review status: criteria provided, multiple submitters, no conflicts.

Q: What is the clinical significance of NC_000001.11:g.1435800GCGCGGAGCG[4] (VWA1, 1:1435798 T>TGGCGCGGAGCGGCGCGGAGC)?
A: The variant NC_000001.11:g.1435800GCGCGGAGCG[4] in gene VWA1 is classified as 'Likely_pathogenic' for VWA1-related_disorder. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Microsatellite. Disease database links: .. Review status: no assertion criteria provided.

Q: What is the clinical significance of NC_000001.11:g.1435800GCGCGGAGCG[1] (VWA1, 1:1435798 TGGCGCGGAGC>T)?
A: The variant NC_000001.11:g.1435800GCGCGGAGCG[1] in gene VWA1 is classified as 'Pathogenic' for Neuromuscular_disease\|Neuronopathy,_distal_hereditary_motor,_autosomal_recessive_7. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Microsatellite. Disease database links: MONDO:MONDO:0019056,MeSH:D009468,MedGen:C0027868,Orphanet:68381\|MONDO:MONDO:0030977,MedGen:C5543119,OMIM:619216. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1436947C>T (VWA1, 1:1436947 C>T)?
A: The variant NC_000001.11:g.1436947C>T in gene VWA1 is classified as 'Likely_pathogenic' for Neuronopathy,_distal_hereditary_motor,_autosomal_recessive_7\|VWA1-related_disorder\|Neuromuscular_disease. Molecular consequence: SO:0001587: nonsense,SO:0001627: intron_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0030977,MedGen:C5543119,OMIM:619216\|.\|MONDO:MONDO:0019056,MeSH:D009468,MedGen:C0027868,Orphanet:68381. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1436949del (VWA1, 1:1436948 GA>G)?
A: The variant NC_000001.11:g.1436949del in gene VWA1 is classified as 'Pathogenic' for not_provided. Molecular consequence: SO:0001589: frameshift_variant,SO:0001627: intron_variant. Variant type: Deletion. Disease database links: MedGen:C3661900. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1437039_1437062del (VWA1, 1:1437035 TGGCTCCACTGCCCCTGGGCACCGG>T)?
A: The variant NC_000001.11:g.1437039_1437062del in gene VWA1 is classified as 'Likely_pathogenic' for Neuromuscular_disease. Molecular consequence: SO:0001627: intron_variant,SO:0001822: inframe_deletion. Variant type: Deletion. Disease database links: MONDO:MONDO:0019056,MeSH:D009468,MedGen:C0027868,Orphanet:68381. Review status: no assertion criteria provided.

Q: What is the clinical significance of NC_000001.11:g.1437105del (VWA1, 1:1437103 AC>A)?
A: The variant NC_000001.11:g.1437105del in gene VWA1 is classified as 'Pathogenic' for Neuromuscular_disease\|not_provided\|Neuronopathy,_distal_hereditary_motor,_autosomal_recessive_7. Molecular consequence: SO:0001589: frameshift_variant,SO:0001627: intron_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0019056,MeSH:D009468,MedGen:C0027868,Orphanet:68381\|MedGen:C3661900\|MONDO:MONDO:0030977,MedGen:C5543119,OMIM:619216. Review status: criteria provided, single submitter.

A: The variant NC_000001.11:g.1319313G>A in gene INTS11 is classified as 'Pathogenic' for Neurodevelopmental_disorder_with_motor_and_language_delay,_ocular_defects,_and_brain_abnormalities. Molecular consequence: SO:0001583: missense_variant,SO:0001627: intron_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0957386,MedGen:C5830596,OMIM:620428. Review status: no assertion criteria provided.

Q: What is the clinical significance of NC_000001.11:g.1321072C>A (INTS11, 1:1321072 C>A)?

A: The variant NC_000001.11:g.1321072C>A in gene INTS11 is classified as 'Pathogenic' for Neurodevelopmental_disorder_with_motor_and_language_delay,_ocular_defects,_and_brain_abnormalities. Molecular consequence: SO:0001583: missense_variant,SO:0001623: 5_prime_UTR_variant,SO:0001627: intron_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0957386,MedGen:C5830596,OMIM:620428. Review status: no assertion criteria provided.

Q: What is the clinical significance of NC_000001.11:g.1336516C>T (DVL1, 1:1336516 C>T)?

A: The variant NC_000001.11:g.1336516C>T in gene DVL1 is classified as 'Likely_pathogenic' for Autosomal_dominant_Robinow_syndrome_2. Molecular consequence: SO:0001574: splice_acceptor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331,Orphanet:3107,Orphanet:97360. Review status: no assertion criteria provided.

Q: What is the clinical significance of NC_000001.11:g.1337990_1338002del (DVL1, 1:1337984 CTGCTGACTCCCGG>C)?

A: The variant NC_000001.11:g.1337990_1338002del in gene DVL1 is classified as 'Likely_pathogenic' for not_provided. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MedGen:CN517202. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1337995del (DVL1, 1:1337992 TC>T)?

A: The variant NC_000001.11:g.1337995del in gene DVL1 is classified as 'Likely_pathogenic' for Autosomal_dominant_Robinow_syndrome_2. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331,Orphanet:3107,Orphanet:97360. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1337995_1338010del (DVL1, 1:1337992 TCCCGGTGCTGCCGCTG>T)?

A: The variant NC_000001.11:g.1337995_1338010del in gene DVL1 is classified as 'Likely_pathogenic' for Autosomal_dominant_Robinow_syndrome_2. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331,Orphanet:3107,Orphanet:97360. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1337997del (DVL1, 1:1337995 CG>C)?

A: The variant NC_000001.11:g.1337997del in gene DVL1 is classified as 'Pathogenic' for not_provided. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MedGen:C3661900. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1338000_1338004dup (DVL1, 1:1337999 G>GCTGCC)?

A: The variant NC_000001.11:g.1338000_1338004dup in gene DVL1 is classified as 'Likely_pathogenic' for Autosomal_dominant_Robinow_syndrome_2. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331,Orphanet:3107,Orphanet:97360. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1338001del (DVL1, 1:1338000 CT>C)?

A: The variant NC_000001.11:g.1338001del in gene DVL1 is classified as 'Pathogenic' for Autosomal_dominant_Robinow_syndrome_2. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331,Orphanet:3107,Orphanet:97360. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1338008_1338009dup (DVL1, 1:1338007 T>TGC)?

A: The variant NC_000001.11:g.1338008_1338009dup in gene DVL1 is classified as 'Likely_pathogenic' for Autosomal_dominant_Robinow_syndrome_1. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700,Orphanet:3107,Orphanet:97360. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1338026del (DVL1, 1:1338023 CG>C)?

A: The variant NC_000001.11:g.1338026del in gene DVL1 is classified as 'Pathogenic' for Autosomal_dominant_Robinow_syndrome_2. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331,Orphanet:3107,Orphanet:97360. Review status: no assertion criteria provided.

Q: What is the clinical significance of NC_000001.11:g.1338033_1338040delinsC (DVL1, 1:1338033 TAGGCAGG>C)?

A: The variant NC_000001.11:g.1338033_1338040delinsC in gene DVL1 is classified as 'Pathogenic' for Autosomal_dominant_Robinow_syndrome_2. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Indel. Disease database links: MONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331,Orphanet:3107,Orphanet:97360. Review status: no assertion criteria provided.

Q: What is the clinical significance of NC_000001.11:g.1338045_1338046delinsG (DVL1, 1:1338045 AA>G)?

A: The variant NC_000001.11:g.1338045_1338046delinsG in gene DVL1 is classified as 'Pathogenic' for Autosomal_dominant_Robinow_syndrome_2. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Indel. Disease database links: MONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331,Orphanet:3107,Orphanet:97360. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1338058del (DVL1, 1:1338053 TG>T)?

A: The variant NC_000001.11:g.1338058del in gene DVL1 is classified as 'Pathogenic' for Autosomal_dominant_Robinow_syndrome_1|Autosomal_dominant_Robinow_syndrome_2. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0024455,MedGen:C4551475,OMIM:180700,Orphanet:3107,Orphanet:97360|MONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331,Orphanet:3107,Orphanet:97360. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1338062del (DVL1, 1:1338059 TC>T)?

A: The variant NC_000001.11:g.1338062del in gene DVL1 is classified as 'Pathogenic' for Autosomal_dominant_Robinow_syndrome_2. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331,Orphanet:3107,Orphanet:97360. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1338089del (DVL1, 1:1338086 AC>A)?

A: The variant NC_000001.11:g.1338089del in gene DVL1 is classified as 'Pathogenic' for Autosomal_dominant_Robinow_syndrome_2. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331,Orphanet:3107,Orphanet:97360. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1338094del (DVL1, 1:1338092 AG>A)?

A: The variant NC_000001.11:g.1338094del in gene DVL1 is classified as 'Pathogenic' for Autosomal_dominant_Robinow_syndrome_2. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331,Orphanet:3107,Orphanet:97360. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1338097del (DVL1, 1:1338096 CA>C)?

A: The variant NC_000001.11:g.1338097del in gene DVL1 is classified as 'Pathogenic' for not_provided|Autosomal_dominant_Robinow_syndrome_2. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MedGen:C3661900|MONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331,Orphanet:3107,Orphanet:97360. Review status: criteria provided, multiple submitters, no conflicts.

Q: What is the clinical significance of NC_000001.11:g.1338107_1338119del (DVL1, 1:1338098 GGGGGCAGCCGGGT>G)?

A: The variant NC_000001.11:g.1338107_1338119del in gene DVL1 is classified as 'Pathogenic' for Autosomal_dominant_Robinow_syndrome_2. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331,Orphanet:3107,Orphanet:97360. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1338110del (DVL1, 1:1338107 CG>C)?

A: The variant NC_000001.11:g.1338110del in gene DVL1 is classified as 'Pathogenic' for Autosomal_dominant_Robinow_syndrome_2. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331,Orphanet:3107,Orphanet:97360. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1338111_1338123del (DVL1, 1:1338107 CGGGTGGGGCAGCG>C)?

A: The variant NC_000001.11:g.1338111_1338123del in gene DVL1 is classified as 'Pathogenic/Likely_pathogenic' for Autosomal_dominant_Robinow_syndrome_2. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331,Orphanet:3107,Orphanet:97360. Review status: criteria provided, multiple submitters, no conflicts.

Q: What is the clinical significance of NC_000001.11:g.1338115del (DVL1, 1:1338111 TG>T)?

A: The variant NC_000001.11:g.1338115del in gene DVL1 is classified as 'Pathogenic' for Inborn_genetic_diseases. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MeSH:D030342,MedGen:C0950123. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1338144del (DVL1, 1:1338143 AG>A)?

A: The variant NC_000001.11:g.1338144del in gene DVL1 is classified as 'Pathogenic' for Autosomal_dominant_Robinow_syndrome_2. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331,Orphanet:3107,Orphanet:97360. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1338531_1338538dup (DVL1, 1:1338529 G>GGCATTGGC)?

A: The variant NC_000001.11:g.1338531_1338538dup in gene DVL1 is classified as 'Likely_pathogenic' for not_provided. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Duplication. Disease database links: MedGen:CN517202. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1339363G>T (DVL1, 1:1339363 G>T)?

A: The variant NC_000001.11:g.1339363G>T in gene DVL1 is classified as 'Pathogenic' for not_provided. Molecular consequence: SO:0001587: nonsense. Variant type: single_nucleotide_variant. Disease database links: MedGen:C3661900. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1342157C>G (DVL1, 1:1342157 C>G)?

A: The variant NC_000001.11:g.1342157C>G in gene DVL1 is classified as 'Likely_pathogenic' for Autosomal_dominant_Robinow_syndrome_2. Molecular consequence: SO:0001574: splice_acceptor_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0014591,MedGen:C4225363,OMIM:616331,Orphanet:3107,Orphanet:97360. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1353913A>T (MXRA8, 1:1353913 A>T)?

A: The variant NC_000001.11:g.1353913A>T in gene MXRA8 is classified as 'Likely_pathogenic' for Abnormal_brain_morphology. Molecular consequence: SO:0001583: missense_variant. Variant type: single_nucleotide_variant. Disease database links: Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1435800GCGCGGAGCG[3] (VWA1, 1:1435798 T>TGGCGCGGAGC)?

A: The variant NC_000001.11:g.1435800GCGCGGAGCG[3] in gene VWA1 is classified as 'Pathogenic/Likely_pathogenic' for VWA1-related_disorder|not_provided|Neuromuscular_disease|Neuronopathy,_distal_hereditary_motor,_autosomal_recessive_7. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Microsatellite. Disease database links: .|MedGen:C3661900|MONDO:MONDO:0019056,MeSH:D009468,MedGen:C0027868,Orphanet:68381|MONDO:MONDO:0030977,MedGen:C5543119,OMIM:619216. Review status: criteria provided, multiple submitters, no conflicts.

Q: What is the clinical significance of NC_000001.11:g.1435800GCGCGGAGCG[4] (VWA1, 1:1435798 T>TGGCGCGGAGCGGCGCGGAGC)?

A: The variant NC_000001.11:g.1435800GCGCGGAGCG[4] in gene VWA1 is classified as 'Likely_pathogenic' for VWA1-related_disorder. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Microsatellite. Disease database links: .. Review status: no assertion criteria provided.

Q: What is the clinical significance of NC_000001.11:g.1435800GCGCGGAGCG[1] (VWA1, 1:1435798 TGGCGCGGAGC>T)?

A: The variant NC_000001.11:g.1435800GCGCGGAGCG[1] in gene VWA1 is classified as 'Pathogenic' for Neuromuscular_disease|Neuronopathy,_distal_hereditary_motor,_autosomal_recessive_7. Molecular consequence: SO:0001589: frameshift_variant. Variant type: Microsatellite. Disease database links: MONDO:MONDO:0019056,MeSH:D009468,MedGen:C0027868,Orphanet:68381|MONDO:MONDO:0030977,MedGen:C5543119,OMIM:619216. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1436947C>T (VWA1, 1:1436947 C>T)?

A: The variant NC_000001.11:g.1436947C>T in gene VWA1 is classified as 'Likely_pathogenic' for Neuronopathy,_distal_hereditary_motor,_autosomal_recessive_7|VWA1-related_disorder|Neuromuscular_disease. Molecular consequence: SO:0001587: nonsense,SO:0001627: intron_variant. Variant type: single_nucleotide_variant. Disease database links: MONDO:MONDO:0030977,MedGen:C5543119,OMIM:619216|.|MONDO:MONDO:0019056,MeSH:D009468,MedGen:C0027868,Orphanet:68381. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1436949del (VWA1, 1:1436948 GA>G)?

A: The variant NC_000001.11:g.1436949del in gene VWA1 is classified as 'Pathogenic' for not_provided. Molecular consequence: SO:0001589: frameshift_variant,SO:0001627: intron_variant. Variant type: Deletion. Disease database links: MedGen:C3661900. Review status: criteria provided, single submitter.

Q: What is the clinical significance of NC_000001.11:g.1437039_1437062del (VWA1, 1:1437035 TGGCTCCACTGCCCCTGGGCACCGG>T)?

A: The variant NC_000001.11:g.1437039_1437062del in gene VWA1 is classified as 'Likely_pathogenic' for Neuromuscular_disease. Molecular consequence: SO:0001627: intron_variant,SO:0001822: inframe_deletion. Variant type: Deletion. Disease database links: MONDO:MONDO:0019056,MeSH:D009468,MedGen:C0027868,Orphanet:68381. Review status: no assertion criteria provided.

Q: What is the clinical significance of NC_000001.11:g.1437105del (VWA1, 1:1437103 AC>A)?

A: The variant NC_000001.11:g.1437105del in gene VWA1 is classified as 'Pathogenic' for Neuromuscular_disease|not_provided|Neuronopathy,_distal_hereditary_motor,_autosomal_recessive_7. Molecular consequence: SO:0001589: frameshift_variant,SO:0001627: intron_variant. Variant type: Deletion. Disease database links: MONDO:MONDO:0019056,MeSH:D009468,MedGen:C0027868,Orphanet:68381|MedGen:C3661900|MONDO:MONDO:0030977,MedGen:C5543119,OMIM:619216. Review status: criteria provided, single submitter.