10804[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 +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	LOC130009419, LOC130009420 +567 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 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	LOC126861730, LOC126861731 +489 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 59861	GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3	LOC130009490, LOC130009491 +416 more	Copy number gain	See cases	GPathogenic
Select item 155130	GRCh38/hg38 13q12.11-12.13(chr13:19671934-24985872)x1	ATP12A, C1QTNF9 +181 more	Copy number loss	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 148827	GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3	LOC132090185, LOC132090186 +621 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 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	LOC112163664, LOC112163665 +2025 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	LOC130009329, LOC132090175 +32 more	Duplication	Autosomal recessive nonsyndromic hearing loss 1A +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 311373	NM_001110219.3(GJB6):c.*714C>T	GJB6	Single nucleotide variant (3 prime UTR variant)	Hidrotic ectodermal dysplasia syndrome	GLikely benign
Select item 311374	NM_001110219.3(GJB6):c.*628G>T	GJB6	Single nucleotide variant (3 prime UTR variant)	Hidrotic ectodermal dysplasia syndrome	GUncertain significance
Select item 882775	NM_001110219.3(GJB6):c.*613T>G	GJB6	Single nucleotide variant (3 prime UTR variant)	Hidrotic ectodermal dysplasia syndrome	GLikely benign
Select item 311375	NM_001110219.3(GJB6):c.*559C>T	GJB6	Single nucleotide variant (3 prime UTR variant)	Hidrotic ectodermal dysplasia syndrome	GUncertain significance
Select item 311376	NM_001110219.3(GJB6):c.*337G>T	GJB6	Single nucleotide variant (3 prime UTR variant)	Hidrotic ectodermal dysplasia syndrome +1 more	GBenign
Select item 311377	NM_001110219.3(GJB6):c.*301G>C	GJB6	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 1190864	NM_001110219.3(GJB6):c.*227dup	GJB6	Duplication (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 1B +5 more	GBenign/Likely benign
Select item 883561	NM_001110219.3(GJB6):c.*192C>T	GJB6	Single nucleotide variant (3 prime UTR variant)	Hidrotic ectodermal dysplasia syndrome	GUncertain significance
Select item 311378	NM_001110219.3(GJB6):c.*25C>T	GJB6	Single nucleotide variant (3 prime UTR variant)	Hidrotic ectodermal dysplasia syndrome	GUncertain significance
Select item 450929	NM_001110219.3(GJB6):c.781A>G (p.Ser261Gly)	GJB6 (S261G)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 772066	NM_001110219.3(GJB6):c.777C>T (p.Phe259=)	GJB6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2501896	NM_001110219.3(GJB6):c.766A>G (p.Ile256Val)	GJB6 (I256V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1496632	NM_001110219.3(GJB6):c.753T>G (p.Ser251Arg)	GJB6 (S251R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +3 more	GUncertain significance
Select item 883562	NM_001110219.3(GJB6):c.742A>G (p.Ile248Val)	GJB6 (I248V)	Single nucleotide variant (missense variant)	Hidrotic ectodermal dysplasia syndrome	GUncertain significance
Select item 2533353	NM_001110219.3(GJB6):c.736G>A (p.Glu246Lys)	GJB6 (E246K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2683221	NM_001110219.3(GJB6):c.727del (p.Glu243fs)	GJB6 (E243fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 775011	NM_001110219.3(GJB6):c.723G>A (p.Gln241=)	GJB6	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 1B +3 more	GLikely benign
Select item 1326032	NM_001110219.3(GJB6):c.716G>A (p.Ser239Asn)	GJB6 (S239N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303965	NM_001110219.3(GJB6):c.701A>G (p.His234Arg)	GJB6 (H234R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 285797	NM_001110219.3(GJB6):c.695C>A (p.Pro232His)	GJB6 (P232H)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 95435	NM_001110219.3(GJB6):c.689dup (p.Asn230fs)	GJB6 (N230fs)	Duplication (frameshift variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 3099983	NM_001110219.3(GJB6):c.688A>T (p.Asn230Tyr)	GJB6 (N230Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 311379	NM_001110219.3(GJB6):c.680C>T (p.Thr227Met)	GJB6 (T227M)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1B +4 more	GUncertain significance
Select item 285401	NM_001110219.3(GJB6):c.672A>G (p.Arg224=)	GJB6	Single nucleotide variant (synonymous variant)	Hidrotic ectodermal dysplasia syndrome +4 more	GConflicting classifications of pathogenicity
Select item 2247015	NM_001110219.3(GJB6):c.668A>C (p.Lys223Thr)	GJB6 (K223T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 311380	NM_001110219.3(GJB6):c.666A>G (p.Ser222=)	GJB6	Single nucleotide variant (synonymous variant)	Hidrotic ectodermal dysplasia syndrome	GUncertain significance
Select item 2500795	NC_000013.11:g.20222821_20531941del	CRYL1, GJB6 +14 more	Deletion	Autosomal recessive nonsyndromic hearing loss 1B	GPathogenic
Select item 153408	GRCh38/hg38 13q12.11(chr13:20222842-20530348)x1	CRYL1, GJB6 +14 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 536989	NM_001110219.3(GJB6):c.631T>G (p.Cys211Gly)	GJB6 (C211G)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +4 more	GUncertain significance
Select item 2683222	NM_001110219.3(GJB6):c.620T>C (p.Val207Ala)	GJB6 (V207A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 45507	NM_001110219.3(GJB6):c.619G>A (p.Val207Met)	GJB6 (V207M)	Single nucleotide variant (missense variant)	Hidrotic ectodermal dysplasia syndrome +4 more	GUncertain significance
Select item 2930663	NM_001110219.3(GJB6):c.617A>C (p.Asn206Thr)	GJB6 (N206T)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +3 more	GUncertain significance
Select item 2009958	NM_001110219.3(GJB6):c.607A>C (p.Met203Leu)	GJB6 (M203L)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 3B +3 more	GUncertain significance
Select item 45505	NM_001110219.3(GJB6):c.607A>G (p.Met203Val)	GJB6 (M203V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1B +4 more	GBenign/Likely benign
Select item 2226175	NM_001110219.3(GJB6):c.602T>C (p.Ile201Thr)	GJB6 (I201T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 45504	NM_001110219.3(GJB6):c.595T>A (p.Ser199Thr)	GJB6 (S199T)	Single nucleotide variant (missense variant)	Hidrotic ectodermal dysplasia syndrome +5 more	GBenign/Likely benign
Select item 1694693	NM_001110219.3(GJB6):c.594G>A (p.Ala198=)	GJB6	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 1699284	NM_001110219.3(GJB6):c.593C>A (p.Ala198Glu)	GJB6 (A198E)	Single nucleotide variant (missense variant)	Hidrotic ectodermal dysplasia syndrome +3 more	GUncertain significance
Select item 1200500	NM_001110219.3(GJB6):c.593C>T (p.Ala198Val)	GJB6 (A198V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2927270	NM_001110219.3(GJB6):c.590C>A (p.Ser197Tyr)	GJB6 (S197Y)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +3 more	GUncertain significance
Select item 2499772	NM_001110219.3(GJB6):c.585G>A (p.Met195Ile)	GJB6 (M195I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2460041	NM_001110219.3(GJB6):c.568G>A (p.Val190Met)	GJB6 (V190M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389850	NM_001110219.3(GJB6):c.568G>T (p.Val190Leu)	GJB6 (V190L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2505796	NM_001110219.3(GJB6):c.529C>G (p.Leu177Val)	GJB6 (L177V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 969013	NM_001110219.3(GJB6):c.518C>T (p.Pro173Leu)	GJB6 (P173L)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 3B +5 more	GUncertain significance
Select item 2504227	NM_001110219.3(GJB6):c.516C>A (p.Asp172Glu)	GJB6 (D172E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 45503	NM_001110219.3(GJB6):c.489G>A (p.Leu163=)	GJB6	Single nucleotide variant (synonymous variant)	Hidrotic ectodermal dysplasia syndrome +5 more	GConflicting classifications of pathogenicity
Select item 561265	NM_001110219.3(GJB6):c.487del (p.Leu163fs)	GJB6 (L163fs)	Deletion (frameshift variant)	Nonsyndromic Deafness	GLikely pathogenic
Select item 881194	NM_001110219.3(GJB6):c.480G>A (p.Gly160=)	GJB6	Single nucleotide variant (synonymous variant)	Hidrotic ectodermal dysplasia syndrome +4 more	GBenign/Likely benign
Select item 45502	NM_001110219.3(GJB6):c.476A>G (p.Asn159Ser)	GJB6 (N159S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1B +5 more	GBenign/Likely benign
Select item 452079	NM_001110219.3(GJB6):c.466T>G (p.Phe156Val)	GJB6 (F156V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2927205	NM_001110219.3(GJB6):c.460T>A (p.Phe154Ile)	GJB6 (F154I)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +3 more	GUncertain significance
Select item 1482975	NM_001110219.3(GJB6):c.458T>G (p.Val153Gly)	GJB6 (V153G)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +3 more	GUncertain significance
Select item 1447794	NM_001110219.3(GJB6):c.458T>C (p.Val153Ala)	GJB6 (V153A)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1B +3 more	GUncertain significance
Select item 5546	del(GJB6-D13S1830)	CRYL1, GJB2 +15 more	Deletion	Autosomal recessive nonsyndromic hearing loss 1B +2 more	GPathogenic
Select item 2504667	NM_001110219.3(GJB6):c.407_434del (p.Tyr136fs)	GJB6 (Y136fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1408221	NM_001110219.3(GJB6):c.428G>A (p.Arg143Gln)	GJB6 (R143Q)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 3B +3 more	GUncertain significance
Select item 2933778	NM_001110219.3(GJB6):c.427C>T (p.Arg143Ter)	GJB6 (R143*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 1A +3 more	GUncertain significance
Select item 728700	NM_001110219.3(GJB6):c.414C>T (p.Ser138=)	GJB6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 311381	NM_001110219.3(GJB6):c.405G>A (p.Thr135=)	GJB6	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 1B +5 more	GConflicting classifications of pathogenicity
Select item 3281465	NM_001110219.3(GJB6):c.403A>G (p.Thr135Ala)	GJB6 (T135A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 881195	NM_001110219.3(GJB6):c.396G>A (p.Leu132=)	GJB6	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 1A +5 more	GBenign/Likely benign
Select item 881196	NM_001110219.3(GJB6):c.393G>A (p.Ser131=)	GJB6	Single nucleotide variant (synonymous variant)	Hidrotic ectodermal dysplasia syndrome	GUncertain significance
Select item 2952945	NM_001110219.3(GJB6):c.380G>A (p.Arg127Gln)	GJB6 (R127Q)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 3B +3 more	GUncertain significance
Select item 1683325	NM_001110219.3(GJB6):c.376del (p.Val126fs)	GJB6 (V126fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 1391604	NM_001110219.3(GJB6):c.371A>G (p.Gln124Arg)	GJB6 (Q124R)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 672304	NM_001110219.3(GJB6):c.358G>A (p.Asp120Asn)	GJB6 (D120N)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +4 more	GBenign/Likely benign
Select item 2952077	NM_001110219.3(GJB6):c.357G>A (p.Glu119=)	GJB6	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 3B +3 more	GLikely benign
Select item 598442	NM_001110219.3(GJB6):c.354A>C (p.Ile118=)	GJB6	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1043052	NM_001110219.3(GJB6):c.352A>G (p.Ile118Val)	GJB6 (I118V)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 3B +3 more	GUncertain significance
Select item 1309598	NM_001110219.3(GJB6):c.349G>C (p.Asp117His)	GJB6 (D117H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 188490	NM_001110219.3(GJB6):c.339T>A (p.Asn113Lys)	GJB6 (N113K)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 2943110	NM_001110219.3(GJB6):c.338A>G (p.Asn113Ser)	GJB6 (N113S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +3 more	GUncertain significance
Select item 2336365	NM_001110219.3(GJB6):c.326G>A (p.Gly109Glu)	GJB6 (G109E)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 3B +4 more	GUncertain significance
Select item 1308146	NM_001110219.3(GJB6):c.323G>A (p.Arg108Gln)	GJB6 (R108Q)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 3B +4 more	GUncertain significance
Select item 561270	NM_001110219.3(GJB6):c.322C>T (p.Arg108Ter)	GJB6 (R108*)	Single nucleotide variant (nonsense)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2171793	NM_001110219.3(GJB6):c.320G>A (p.Arg107Lys)	GJB6 (R107K)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 3B +3 more	GUncertain significance

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