2706[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2048 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	ABCC4, ABHD13 +2049 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC126861801, LOC126861802 +2047 more	Copy number gain	See cases	GPathogenic
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	PDS5B, PDX1 +566 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2044 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	LOC126861839, LOC126861840 +2045 more	Copy number gain	See cases	GPathogenic
Select item 153719	GRCh38/hg38 13q11-12.11(chr13:18862146-22489174)x3	CRYL1, EEF1AKMT1 +116 more	Copy number gain	See cases	GPathogenic
Select item 153502	GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3	LOC130009480, LOC130009481 +488 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	ABCC4, ABHD13 +2040 more	Copy number gain	See cases	GPathogenic
Select item 59861	GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3	USPL1, WASF3 +415 more	Copy number gain	See cases	GPathogenic
Select item 155130	GRCh38/hg38 13q12.11-12.13(chr13:19671934-24985872)x1	LOC130009372, LOC130009373 +181 more	Copy number loss	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC124849292, LOC124849293 +2028 more	Copy number gain	See cases	GPathogenic
Select item 148827	GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3	LOC130009376, LOC130009377 +620 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	ABCC4, ABHD13 +2021 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC130009743, LOC130009744 +2024 more	Copy number gain	See cases	GPathogenic
Select item 147997	GRCh38/hg38 13q12.11(chr13:19837395-21967789)x1	CRYL1, EEF1AKMT1 +84 more	Copy number loss	See cases	GUncertain significance
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC130009548, LOC130009549 +2024 more	Copy number gain	See cases	GPathogenic
Select item 146055	GRCh38/hg38 13q12.11(chr13:19857140-20222070)x3	GJA3, GJB2 +21 more	Copy number gain	See cases	GUncertain significance
Select item 145365	GRCh38/hg38 13q12.11(chr13:19885283-22014498)x1	CRYL1, EEF1AKMT1 +79 more	Copy number loss	See cases	GPathogenic
Select item 57615	GRCh38/hg38 13q12.11(chr13:20026650-21967789)x1	SAP18, SKA3 +75 more	Copy number loss	See cases	GPathogenic
Select item 656832	NC_000013.10:g.(?_20716100)_(21398980_?)dup	CRYL1, EEF1AKMT1 +32 more	Duplication	Autosomal recessive nonsyndromic hearing loss 1B +3 more	GUncertain significance
Select item 150234	GRCh38/hg38 13q12.11(chr13:20179998-20605371)x1	CRYL1, GJB2 +19 more	Copy number loss	See cases	GUncertain significance
Select item 369056	NM_004004.5(GJB2):c.*1447G>A	GJB2	Single nucleotide variant	Nonsyndromic Hearing Loss, Dominant +4 more	GBenign
Select item 311352	NM_004004.6(GJB2):c.1291_1294del	GJB2	Deletion (3 prime UTR variant)	Keratitis ichthyosis and deafness syndrome +4 more	GUncertain significance
Select item 311353	NM_004004.6(GJB2):c.*1277T>C	GJB2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis, hystrix-like, with hearing loss +2 more	GBenign
Select item 311354	NM_004004.6(GJB2):c.*1206T>G	GJB2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 1A +2 more	GUncertain significance
Select item 311355	NM_004004.6(GJB2):c.*1197T>A	GJB2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis, hystrix-like, with hearing loss +3 more	GBenign/Likely benign
Select item 311356	NM_004004.6(GJB2):c.*1152G>A	GJB2	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign
Select item 311357	NM_004004.6(GJB2):c.*1067G>T	GJB2	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign
Select item 880907	NM_004004.6(GJB2):c.*1040A>G	GJB2	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 3A +2 more	GUncertain significance
Select item 311358	NM_004004.6(GJB2):c.*1033G>A	GJB2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis, hystrix-like, with hearing loss +2 more	GConflicting classifications of pathogenicity
Select item 311359	NM_004004.6(GJB2):c.*1016A>G	GJB2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis, hystrix-like, with hearing loss +2 more	GConflicting classifications of pathogenicity
Select item 311360	NM_004004.6(GJB2):c.*979A>G	GJB2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis, hystrix-like, with hearing loss +2 more	GUncertain significance
Select item 311361	NM_004004.6(GJB2):c.*931C>T	GJB2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 1A +3 more	GBenign
Select item 311362	NM_004004.6(GJB2):c.*800A>G	GJB2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 1A +2 more	GUncertain significance
Select item 311363	NM_004004.6(GJB2):c.*786G>A	GJB2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis, hystrix-like, with hearing loss +2 more	GConflicting classifications of pathogenicity
Select item 882542	NM_004004.6(GJB2):c.*679T>C	GJB2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis, hystrix-like, with hearing loss +2 more	GUncertain significance
Select item 311364	NM_004004.6(GJB2):c.*598C>A	GJB2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis, hystrix-like, with hearing loss +2 more	GUncertain significance
Select item 883325	NM_004004.6(GJB2):c.*550A>G	GJB2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis, hystrix-like, with hearing loss +2 more	GUncertain significance
Select item 311365	NM_004004.6(GJB2):c.*544T>C	GJB2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis, hystrix-like, with hearing loss +2 more	GUncertain significance
Select item 311366	NM_004004.6(GJB2):c.*482A>G	GJB2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis, hystrix-like, with hearing loss +2 more	GUncertain significance
Select item 311367	NM_004004.6(GJB2):c.*423C>T	GJB2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis, hystrix-like, with hearing loss +2 more	GUncertain significance
Select item 311368	NM_004004.6(GJB2):c.*412A>C	GJB2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis, hystrix-like, with hearing loss +2 more	GUncertain significance
Select item 882320	NM_004004.6(GJB2):c.*385G>C	GJB2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis, hystrix-like, with hearing loss +2 more	GUncertain significance
Select item 882321	NM_004004.6(GJB2):c.*308G>A	GJB2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis, hystrix-like, with hearing loss +2 more	GUncertain significance
Select item 882589	NM_004004.6(GJB2):c.*236A>T	GJB2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis, hystrix-like, with hearing loss +2 more	GUncertain significance
Select item 311369	NM_004004.6(GJB2):c.*168A>G	GJB2	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign
Select item 882590	NM_004004.6(GJB2):c.*115A>C	GJB2	Single nucleotide variant (3 prime UTR variant)	Knuckle pads, deafness AND leukonychia syndrome +7 more	GUncertain significance
Select item 311370	NM_004004.6(GJB2):c.*114T>C	GJB2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis, hystrix-like, with hearing loss +2 more	GUncertain significance
Select item 36278	NM_004004.6(GJB2):c.*111C>T	GJB2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis, hystrix-like, with hearing loss +8 more	GBenign
Select item 311371	NM_004004.6(GJB2):c.*104A>T	GJB2	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign
Select item 36277	NM_004004.6(GJB2):c.*84T>C	GJB2	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign
Select item 882374	NM_004004.6(GJB2):c.*52C>T	GJB2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis, hystrix-like, with hearing loss +2 more	GUncertain significance
Select item 989603	NM_004004.6(GJB2):c.*4A>G	GJB2	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 1A	GUncertain significance
Select item 44716	NM_004004.6(GJB2):c.*3C>A	GJB2	Single nucleotide variant (3 prime UTR variant)	Ichthyosis, hystrix-like, with hearing loss +4 more	GConflicting classifications of pathogenicity
Select item 44715	NM_004004.6(GJB2):c.*1C>T	GJB2	Single nucleotide variant (3 prime UTR variant)	Nonsyndromic genetic hearing loss +5 more	GConflicting classifications of pathogenicity
Select item 2793174	NM_004004.6(GJB2):c.680A>G (p.Ter227=)	GJB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 585322	NM_004004.6(GJB2):c.677T>A (p.Val226Asp)	GJB2 (V226D)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GUncertain significance FDA Recognized database
Select item 447450	NM_004004.6(GJB2):c.677T>G (p.Val226Gly)	GJB2 (V226G)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GUncertain significance FDA Recognized database
Select item 795789	NM_004004.6(GJB2):c.675A>T (p.Pro225=)	GJB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 555720	NM_004004.6(GJB2):c.674C>T (p.Pro225Leu)	GJB2 (P225L)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GUncertain significance FDA Recognized database
Select item 1608523	NM_004004.6(GJB2):c.672G>A (p.Lys224=)	GJB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 550390	NM_004004.6(GJB2):c.668_671del (p.Lys223fs)	GJB2 (K223fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 1A	GLikely pathogenic
Select item 44765	NM_004004.6(GJB2):c.670A>C (p.Lys224Gln)	GJB2 (K224Q)	Single nucleotide variant (missense variant)	Mutilating keratoderma +9 more	GUncertain significance
Select item 551242	NM_004004.6(GJB2):c.665C>A (p.Ser222Ter)	GJB2 (S222*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 1A	GUncertain significance
Select item 44764	NM_004004.6(GJB2):c.663G>C (p.Lys221Asn)	GJB2 (K221N)	Single nucleotide variant (missense variant)	Mutilating keratoderma +9 more	GUncertain significance
Select item 585327	NM_004004.6(GJB2):c.653G>A (p.Cys218Tyr)	GJB2 (C218Y)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GUncertain significance FDA Recognized database
Select item 158609	NM_004004.6(GJB2):c.647_650del (p.Arg216fs)	GJB2 (R216fs)	Deletion	Inborn genetic diseases +5 more	GPathogenic/Likely pathogenic
Select item 1297639	NM_004004.6(GJB2):c.647G>T (p.Arg216Ile)	GJB2 (R216I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 560671	NM_004004.6(GJB2):c.646A>C (p.Arg216=)	GJB2	Single nucleotide variant (synonymous variant)	Hearing loss	GLikely benign
Select item 1090000	NM_004004.6(GJB2):c.645T>C (p.Ile215=)	GJB2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 449487	NM_004004.6(GJB2):c.645del (p.Arg216fs)	GJB2 (R216fs)	Deletion (frameshift variant)	Rare genetic deafness +1 more	GLikely pathogenic
Select item 2839828	NM_004004.6(GJB2):c.641T>G (p.Leu214Arg)	GJB2 (L214R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2894871	NM_004004.6(GJB2):c.630_634del (p.Cys211fs)	GJB2 (C211fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 158608	NM_004004.6(GJB2):c.632_633del (p.Cys211fs)	GJB2 (C211fs)	Microsatellite (frameshift variant)	GJB2-related condition +3 more	GPathogenic/Likely pathogenic
Select item 975153	NM_004004.6(GJB2):c.632G>A (p.Cys211Tyr)	GJB2 (C211Y)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic
Select item 447449	NM_004004.6(GJB2):c.628T>C (p.Leu210=)	GJB2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1454400	NM_004004.6(GJB2):c.624del (p.Glu209fs)	GJB2 (E209fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1119265	NM_004004.6(GJB2):c.621C>T (p.Val207=)	GJB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 44763	NM_004004.6(GJB2):c.617A>G (p.Asn206Ser)	GJB2 (N206S)	Single nucleotide variant (missense variant)	Rare genetic deafness +12 more	GPathogenic/Likely pathogenic
Select item 2766665	NM_004004.6(GJB2):c.612G>T (p.Leu204=)	GJB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1532558	NM_004004.6(GJB2):c.609C>T (p.Ile203=)	GJB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 44762	NM_004004.6(GJB2):c.608T>C (p.Ile203Thr)	GJB2 (I203T)	Single nucleotide variant (missense variant)	GJB2-related condition +10 more	GBenign
Select item 2994400	NM_004004.6(GJB2):c.607A>C (p.Ile203Leu)	GJB2 (I203L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1131267	NM_004004.6(GJB2):c.606C>T (p.Cys202=)	GJB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 627447	NM_004004.6(GJB2):c.560_605dup (p.Cys202Ter)	GJB2 (C202*)	Duplication (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 17018	NM_004004.6(GJB2):c.605G>T (p.Cys202Phe)	GJB2 (C202F)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2137452	NM_004004.6(GJB2):c.604T>C (p.Cys202Arg)	GJB2 (C202R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1131979	NM_004004.6(GJB2):c.600A>C (p.Gly200=)	GJB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 447448	NM_004004.5(GJB2):c.592_600delGTGTCTGGAins17 (p.?)	GJB2	Indel	not provided	GPathogenic
Select item 44761	NM_004004.6(GJB2):c.592_600delinsCAGTGTTCATGACATTC (p.Val198_Gly200delinsGlnCysSerTer)	GJB2	Indel	Rare genetic deafness +2 more	GPathogenic/Likely pathogenic
Select item 225222	NM_004004.6(GJB2):c.598G>A (p.Gly200Arg)	GJB2 (G200R)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 188973	NM_004004.6(GJB2):c.598G>T (p.Gly200Ter)	GJB2 (G200*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 1A	GLikely pathogenic
Select item 1663871	NM_004004.6(GJB2):c.597T>A (p.Ser199=)	GJB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1530354	NM_004004.6(GJB2):c.597T>C (p.Ser199=)	GJB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 189183	NM_004004.6(GJB2):c.596C>T (p.Ser199Phe)	GJB2 (S199F)	Single nucleotide variant (missense variant)	GJB2-related condition +9 more	GPathogenic/Likely pathogenic
Select item 2744457	NM_004004.6(GJB2):c.595T>C (p.Ser199Pro)	GJB2 (S199P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2087433	NM_004004.6(GJB2):c.595T>G (p.Ser199Ala)	GJB2 (S199A)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1968560	NM_004004.6(GJB2):c.594G>A (p.Val198=)	GJB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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