ClinVar for Gene (Select 10804) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244228	NC_000013.10:g.(?_20716120)_(21219117_?)dup	CRYL1, GJA3 +3 more	Duplication	not provided	GUncertain significance
Select item 3244213	NC_000013.10:g.(?_20763040)_(21099933_?)del	CRYL1, GJB2 +1 more	Deletion	not provided	GPathogenic
Select item 3244212	NC_000013.10:g.(?_20472281)_(24052335_?)del	CRYL1, EEF1AKMT1 +16 more	Deletion	not provided	GPathogenic
Select item 3148926	GRCh37/hg19 13q12.11(chr13:19748336-20797299)x3	GJA3, GJB2 +7 more	Copy number gain	not provided	GUncertain significance
Select item 3148850	GRCh37/hg19 13q11-13.3(chr13:19436287-36278224)x3	ALOX5AP, AMER2 +82 more	Copy number gain	not provided	GUncertain significance
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 3067474	NM_001110219.3(GJB6):c.257C>A (p.Thr86Asn)	GJB6 (T86N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3063278	GRCh37/hg19 13q12.11(chr13:20796981-21104487)x1	CRYL1, GJB6	Copy number loss	not specified	GPathogenic
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 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 2943110	NM_001110219.3(GJB6):c.338A>G (p.Asn113Ser)	GJB6 (N113S)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 3B +3 more	GUncertain significance
Select item 2939794	NM_001110219.3(GJB6):c.306C>G (p.Thr102=)	GJB6	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 3B +3 more	GLikely benign
Select item 2937586	NM_001110219.3(GJB6):c.138C>T (p.Asp46=)	GJB6	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 3B +3 more	GLikely benign
Select item 2935655	NM_001110219.3(GJB6):c.310C>T (p.Arg104Cys)	GJB6 (R104C)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 3B +3 more	GUncertain significance
Select item 2934708	NM_001110219.3(GJB6):c.129G>A (p.Val43=)	GJB6	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 3B +3 more	GLikely benign
Select item 2933778	NM_001110219.3(GJB6):c.427C>T (p.Arg143Ter)	GJB6 (R143*)	Single nucleotide variant (nonsense)	Autosomal dominant nonsyndromic hearing loss 3B +3 more	GUncertain significance
Select item 2930663	NM_001110219.3(GJB6):c.617A>C (p.Asn206Thr)	GJB6 (N206T)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 3B +3 more	GUncertain significance
Select item 2927270	NM_001110219.3(GJB6):c.590C>A (p.Ser197Tyr)	GJB6 (S197Y)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 3B +3 more	GUncertain significance
Select item 2927205	NM_001110219.3(GJB6):c.460T>A (p.Phe154Ile)	GJB6 (F154I)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 3B +3 more	GUncertain significance
Select item 2926737	NM_001110219.3(GJB6):c.154G>T (p.Val52Phe)	GJB6 (V52F)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 3B +3 more	GUncertain significance
Select item 2924572	NM_001110219.3(GJB6):c.153C>T (p.Phe51=)	GJB6	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 3B +3 more	GLikely benign
Select item 2684692	GRCh37/hg19 13q12.11(chr13:20733790-20882001)x3	GJA3, GJB2 +1 more	Copy number gain	not provided	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 2683221	NM_001110219.3(GJB6):c.727del (p.Glu243fs)	GJB6 (E243fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2544635	NM_001110219.3(GJB6):c.173C>T (p.Pro58Leu)	GJB6 (P58L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2505796	NM_001110219.3(GJB6):c.529C>G (p.Leu177Val)	GJB6 (L177V)	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 2504227	NM_001110219.3(GJB6):c.516C>A (p.Asp172Glu)	GJB6 (D172E)	Single nucleotide variant (missense variant)	not provided	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 2500795	NC_000013.11:g.20222821_20531941del	CRYL1, GJB6 +14 more	Deletion	Autosomal recessive nonsyndromic hearing loss 1B	GPathogenic
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 2425644	NC_000013.10:g.(?_20796834)_(21099933_?)del	CRYL1, GJB6	Deletion	Autosomal recessive nonsyndromic hearing loss 1A +3 more	GUncertain significance
Select item 2424812	NC_000013.10:g.(?_20763040)_(20797619_?)dup	GJB2, GJB6	Duplication	Autosomal recessive nonsyndromic hearing loss 1A +3 more	GUncertain significance
Select item 2424811	NC_000013.10:g.(?_20797176)_(21105944_?)del	CRYL1, GJB2 +1 more	Deletion	not provided	GPathogenic
Select item 2389850	NM_001110219.3(GJB6):c.568G>T (p.Val190Leu)	GJB6 (V190L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2247015	NM_001110219.3(GJB6):c.668A>C (p.Lys223Thr)	GJB6 (K223T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241695	NM_001110219.3(GJB6):c.292T>C (p.Tyr98His)	GJB6 (Y98H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236415	NM_001110219.3(GJB6):c.49T>C (p.Ser17Pro)	GJB6 (S17P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2171793	NM_001110219.3(GJB6):c.320G>A (p.Arg107Lys)	GJB6 (R107K)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +3 more	GUncertain significance
Select item 2067721	NM_001110219.3(GJB6):c.16C>T (p.Leu6=)	GJB6	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 1B +3 more	GLikely benign
Select item 2009958	NM_001110219.3(GJB6):c.607A>C (p.Met203Leu)	GJB6 (M203L)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +3 more	GUncertain significance
Select item 1967071	NM_001110219.3(GJB6):c.94C>T (p.Arg32Ter)	GJB6 (R32*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 1B +3 more	GUncertain significance
Select item 1809388	GRCh37/hg19 13q12.11(chr13:20796982-21104487)x1	CRYL1, GJB6	Copy number loss	not provided	GUncertain significance
Select item 1809316	GRCh37/hg19 13q11-12.11(chr13:19436287-22089005)x1	CRYL1, EEF1AKMT1 +18 more	Copy number loss	not provided	GPathogenic
Select item 1808257	GRCh37/hg19 13q11-12.11(chr13:19436287-22405375)x3	CRYL1, EEF1AKMT1 +19 more	Copy number gain	not provided	GUncertain significance
Select item 1722421	NM_001110219.3(GJB6):c.159C>A (p.Cys53Ter)	GJB6 (C53*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 1721249	NM_001110219.3(GJB6):c.176G>T (p.Gly59Val)	GJB6 (G59V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1B +3 more	GUncertain significance
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	CCDC169-SOHLH2, CCDC70 +332 more	Copy number gain	not provided	GPathogenic
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	PCID2, PCOTH +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
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 1694693	NM_001110219.3(GJB6):c.594G>A (p.Ala198=)	GJB6	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 1683326	NC_000013.10:g.(?_20796100)_(20797635_20803718)del	GJB6	Deletion	not specified	GUncertain significance
Select item 1683325	NM_001110219.3(GJB6):c.376del (p.Val126fs)	GJB6 (V126fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 1625051	NM_001110219.3(GJB6):c.300C>T (p.His100=)	GJB6	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 1A +3 more	GLikely benign
Select item 1527751	GRCh37/hg19 13q12.11(chr13:20797314-21034197)	CRYL1, GJB6	Copy number loss	not specified	GUncertain significance
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, DNAJC15 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	ZMYM5, SPATA13 +329 more	Copy number gain	not specified	GPathogenic
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 1482975	NM_001110219.3(GJB6):c.458T>G (p.Val153Gly)	GJB6 (V153G)	Single nucleotide variant (missense variant)	Hidrotic ectodermal dysplasia syndrome +3 more	GUncertain significance
Select item 1474469	NM_001110219.3(GJB6):c.223C>T (p.Arg75Trp)	GJB6 (R75W)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1B +3 more	GConflicting classifications of pathogenicity
Select item 1447794	NM_001110219.3(GJB6):c.458T>C (p.Val153Ala)	GJB6 (V153A)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 3B +3 more	GUncertain significance
Select item 1447347	NM_001110219.3(GJB6):c.95G>A (p.Arg32Gln)	GJB6 (R32Q)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1A +3 more	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 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 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ARGLU1, FBXL3 +332 more	Copy number gain	not provided	GPathogenic
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 1327795	NM_001110219.3(GJB6):c.-420+180G>A	GJB6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1327720	NM_001110219.3(GJB6):c.-185-252G>A	GJB6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1327715	NM_001110219.3(GJB6):c.-296+106A>G	GJB6	Single nucleotide variant (intron variant)	not provided	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 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	MRPL57, MRPS31 +332 more	Copy number gain	See cases	GPathogenic
Select item 1321743	NC_000013.11:g.20232516_20232517insA	GJB6	Insertion	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 1321624	NM_001110219.3(GJB6):c.-185-55G>A	GJB6	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1309598	NM_001110219.3(GJB6):c.349G>C (p.Asp117His)	GJB6 (D117H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308146	NM_001110219.3(GJB6):c.323G>A (p.Arg108Gln)	GJB6 (R108Q)	Single nucleotide variant (missense variant)	not provided +4 more	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 1303411	NM_001110219.3(GJB6):c.61G>A (p.Gly21Arg)	GJB6 (G21R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 1B +5 more	GUncertain significance
Select item 1285959	NM_001110219.3(GJB6):c.-15-298T>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 1282870	NM_001110219.3(GJB6):c.-16+234dup	GJB6	Duplication (intron variant)	not provided	GBenign
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 1280443	NC_000013.11:g.20232516dup	GJB6	Duplication	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 1279414	NC_000013.11:g.20232862A>T	GJB6	Single nucleotide 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 1272950	NM_001110219.3(GJB6):c.-16+262_-16+264del	GJB6	Deletion (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 1264819	NM_001110219.3(GJB6):c.-16+136G>A	GJB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262976	NM_001110219.3(GJB6):c.-185-465A>G	GJB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254404	NC_000013.11:g.20232631C>G	GJB6	Single nucleotide 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 1248866	NM_001110219.3(GJB6):c.-16+275A>G	GJB6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244911	NM_001110219.3(GJB6):c.-16+264del	GJB6	Deletion (intron variant)	not provided	GBenign
Select item 1240564	NM_001110219.3(GJB6):c.-447C>A	GJB6	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign

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