"GeneDx"[submitter] AND "GJB6"[gene] - ClinVar

Search results

Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	LOC130009419, LOC130009420 +567 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 146055	GRCh38/hg38 13q12.11(chr13:19857140-20222070)x3	GJA3, GJB2 +21 more	Copy number gain	See cases	GUncertain significance
Select item 57615	GRCh38/hg38 13q12.11(chr13:20026650-21967789)x1	SAP18, SKA3 +75 more	Copy number loss	See cases	GPathogenic
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 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 2501896	NM_001110219.3(GJB6):c.766A>G (p.Ile256Val)	GJB6 (I256V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3368314	NM_001110219.3(GJB6):c.704_714delinsA (p.Ala235fs)	GJB6 (A235fs)	Indel (frameshift 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 95435	NM_001110219.3(GJB6):c.689dup (p.Asn230fs)	GJB6 (N230fs)	Duplication (frameshift variant)	not specified +5 more	GConflicting classifications of pathogenicity
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 45504	NM_001110219.3(GJB6):c.595T>A (p.Ser199Thr)	GJB6 (S199T)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
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 2499772	NM_001110219.3(GJB6):c.585G>A (p.Met195Ile)	GJB6 (M195I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2389850	NM_001110219.3(GJB6):c.568G>T (p.Val190Leu)	GJB6 (V190L)	Single nucleotide variant (missense variant)	not provided +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)	not provided +5 more	GConflicting classifications of pathogenicity
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 2504667	NM_001110219.3(GJB6):c.407_434del (p.Tyr136fs)	GJB6 (Y136fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 311381	NM_001110219.3(GJB6):c.405G>A (p.Thr135=)	GJB6	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 1A +5 more	GConflicting classifications of pathogenicity
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 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 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 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 881661	NM_001110219.3(GJB6):c.311G>A (p.Arg104His)	GJB6 (R104H)	Single nucleotide variant (missense variant)	Hidrotic ectodermal dysplasia syndrome +1 more	GUncertain significance
Select item 837505	NM_001110219.3(GJB6):c.228del (p.Trp77fs)	GJB6 (W77fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 1B +4 more	GUncertain significance
Select item 1309831	NM_001110219.3(GJB6):c.215C>T (p.Ser72Phe)	GJB6 (S72F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 881662	NM_001110219.3(GJB6):c.212T>C (p.Val71Ala)	GJB6 (V71A)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 179782	NM_001110219.3(GJB6):c.209C>T (p.Pro70Leu)	GJB6 (P70L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 426683	NM_001110219.3(GJB6):c.179G>T (p.Cys60Phe)	GJB6 (C60F)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 196442	NM_001110219.3(GJB6):c.177A>G (p.Gly59=)	GJB6	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 1B +4 more	GConflicting classifications of pathogenicity
Select item 1192065	NM_001110219.3(GJB6):c.176G>A (p.Gly59Glu)	GJB6 (G59E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 163538	NM_001110219.3(GJB6):c.117T>C (p.Ala39=)	GJB6	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 512818	NM_001110219.3(GJB6):c.63G>A (p.Gly21=)	GJB6	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 311382	NM_001110219.3(GJB6):c.63del (p.Lys22fs)	GJB6 (K22fs)	Deletion (frameshift variant)	Hidrotic ectodermal dysplasia syndrome +5 more	GConflicting classifications of pathogenicity
Select item 1303411	NM_001110219.3(GJB6):c.61G>A (p.Gly21Arg)	GJB6 (G21R)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 3B +5 more	GUncertain significance
Select item 45506	NM_001110219.3(GJB6):c.60_61delinsT (p.Lys22fs)	GJB6 (K22fs)	Indel (frameshift variant)	not specified +1 more	GUncertain significance
Select item 5544	NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg)	GJB6 (G11R)	Single nucleotide variant (missense variant)	GJB6-related disorder +6 more	GPathogenic
Select item 724026	NM_001110219.3(GJB6):c.30C>T (p.Ile10=)	GJB6	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 1A +4 more	GConflicting classifications of pathogenicity
Select item 1179938	NM_001110219.3(GJB6):c.19C>T (p.His7Tyr)	GJB6 (H7Y)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 45501	NM_001110219.3(GJB6):c.15G>A (p.Thr5=)	GJB6	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 712775	NM_001110219.3(GJB6):c.6T>C (p.Asp2=)	GJB6	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 1A +4 more	GLikely benign
Select item 489003	NM_001110219.3(GJB6):c.1A>G (p.Met1Val)	GJB6 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1211116	NM_001110219.3(GJB6):c.-15-266G>C	GJB6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1285959	NM_001110219.3(GJB6):c.-15-298T>C	GJB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181675	NM_001110219.3(GJB6):c.-15-316del	GJB6	Deletion (intron variant)	not provided	GBenign
Select item 1248866	NM_001110219.3(GJB6):c.-16+275A>G	GJB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282870	NM_001110219.3(GJB6):c.-16+234dup	GJB6	Duplication (intron variant)	not provided	GBenign
Select item 1272950	NM_001110219.3(GJB6):c.-16+262_-16+264del	GJB6	Deletion (intron variant)	not provided	GBenign
Select item 1244911	NM_001110219.3(GJB6):c.-16+264del	GJB6	Deletion (intron variant)	not provided	GBenign
Select item 1228475	NM_001110219.3(GJB6):c.-16+256_-16+264del	GJB6	Deletion (intron variant)	not provided	GBenign
Select item 1221342	NM_001110219.3(GJB6):c.-16+254_-16+264del	GJB6	Deletion (intron variant)	not provided	GBenign
Select item 1183023	NM_001110219.3(GJB6):c.-16+261_-16+264del	GJB6	Deletion (intron variant)	not provided	GBenign
Select item 1218908	NM_001110219.3(GJB6):c.-16+232C>T	GJB6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1264819	NM_001110219.3(GJB6):c.-16+136G>A	GJB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232237	NM_001110219.3(GJB6):c.-16+53G>A	GJB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1199586	NM_001110219.3(GJB6):c.-16+52C>T	GJB6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 311386	NM_001110219.3(GJB6):c.-105T>A	GJB6	Single nucleotide variant (5 prime UTR variant)	Hidrotic ectodermal dysplasia syndrome +1 more	GBenign
Select item 1229371	NM_001110219.3(GJB6):c.-185-49G>T	GJB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182185	NM_001110219.3(GJB6):c.-185-49G>C	GJB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1321624	NM_001110219.3(GJB6):c.-185-55G>A	GJB6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1251221	NM_001110219.3(GJB6):c.-185-55G>C	GJB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283763	NM_001110219.3(GJB6):c.-185-56C>G	GJB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226103	NM_001110219.3(GJB6):c.-185-62dup	GJB6	Duplication (intron variant)	not provided	GBenign
Select item 1268866	NM_001110219.3(GJB6):c.-185-57G>T	GJB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1327720	NM_001110219.3(GJB6):c.-185-252G>A	GJB6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1262976	NM_001110219.3(GJB6):c.-185-465A>G	GJB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279895	NM_001110219.3(GJB6):c.-186+265C>G	GJB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213275	NM_001110219.3(GJB6):c.-186+125G>T	GJB6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1281959	NM_001110219.3(GJB6):c.-213C>G	GJB6	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1328738	NM_001110219.3(GJB6):c.-272C>A	GJB6	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 311395	NM_001110219.3(GJB6):c.-295-210G>A	GJB6	Single nucleotide variant (intron variant)	Hidrotic ectodermal dysplasia syndrome +1 more	GLikely benign
Select item 311396	NM_001110219.3(GJB6):c.-295-219G>A	GJB6	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1327715	NM_001110219.3(GJB6):c.-296+106A>G	GJB6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190371	NM_001110219.3(GJB6):c.-356G>A	GJB6	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1321718	NM_001110219.3(GJB6):c.-419-105A>G	GJB6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1327795	NM_001110219.3(GJB6):c.-420+180G>A	GJB6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186553	NM_001110219.3(GJB6):c.-420+17C>T	GJB6	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1240564	NM_001110219.3(GJB6):c.-447C>A	GJB6	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1277593	NM_001110219.3(GJB6):c.-532A>G	GJB6	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1280443	NC_000013.11:g.20232516dup	GJB6	Duplication	not provided	GBenign
Select item 1321743	NC_000013.11:g.20232516_20232517insA	GJB6	Insertion	not provided	GLikely benign
Select item 1180417	NC_000013.11:g.20232627G>A	GJB6	Single nucleotide variant	not provided	GBenign
Select item 1254404	NC_000013.11:g.20232631C>G	GJB6	Single nucleotide variant	not provided	GLikely benign
Select item 1235857	NC_000013.11:g.20232684C>A	GJB6	Single nucleotide variant	not provided	GBenign
Select item 1279414	NC_000013.11:g.20232862A>T	GJB6	Single nucleotide variant	not provided	GBenign
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	GTF2F2, LINC00567 +332 more	Copy number gain	See cases	GPathogenic
Select item 3361771	NM_001110219.3(GJB6):c.416G>A (p.Ser139Asn)	GJB6 (S139N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 96