2707[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	TXLNA, UBXN11 +1145 more	Copy number gain	See cases	GPathogenic
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 148904	GRCh38/hg38 1p34.3(chr1:34753938-36055310)x1	AGO1, AGO3 +70 more	Copy number loss	See cases	GLikely pathogenic
Select item 297178	NM_024009.2(GJB3):c.-606T>C	GJB3	Single nucleotide variant	Erythrokeratodermia variabilis et progressiva 1	GUncertain significance
Select item 873890	NM_024009.3(GJB3):c.-480G>C	GJB3	Single nucleotide variant (5 prime UTR variant)	Erythrokeratodermia variabilis et progressiva 1	GUncertain significance
Select item 873891	NM_024009.3(GJB3):c.-477T>C	GJB3	Single nucleotide variant (5 prime UTR variant)	Erythrokeratodermia variabilis et progressiva 1	GUncertain significance
Select item 297179	NM_024009.3(GJB3):c.-407C>T	GJB3	Single nucleotide variant (5 prime UTR variant)	Erythrokeratodermia variabilis et progressiva 1	GBenign
Select item 297180	NM_024009.3(GJB3):c.-399G>A	GJB3	Single nucleotide variant (5 prime UTR variant)	Erythrokeratodermia variabilis et progressiva 1	GUncertain significance
Select item 297181	NM_024009.3(GJB3):c.-398C>G	GJB3	Single nucleotide variant (5 prime UTR variant)	Erythrokeratodermia variabilis et progressiva 1	GUncertain significance
Select item 297182	NM_024009.3(GJB3):c.-383G>A	GJB3	Single nucleotide variant (5 prime UTR variant)	Erythrokeratodermia variabilis et progressiva 1	GUncertain significance
Select item 297183	NM_024009.3(GJB3):c.-307T>C	GJB3	Single nucleotide variant (5 prime UTR variant)	Erythrokeratodermia variabilis et progressiva 1	GUncertain significance
Select item 874839	NM_024009.3(GJB3):c.-293C>G	GJB3	Single nucleotide variant (5 prime UTR variant)	Erythrokeratodermia variabilis et progressiva 1	GUncertain significance
Select item 874840	NM_024009.3(GJB3):c.-285C>A	GJB3	Single nucleotide variant (5 prime UTR variant)	Erythrokeratodermia variabilis et progressiva 1	GUncertain significance
Select item 297184	NM_024009.3(GJB3):c.-231G>A	GJB3	Single nucleotide variant (5 prime UTR variant)	Erythrokeratodermia variabilis et progressiva 1	GUncertain significance
Select item 297185	NM_024009.3(GJB3):c.-177G>A	GJB3	Single nucleotide variant (5 prime UTR variant)	Erythrokeratodermia variabilis et progressiva 1	GUncertain significance
Select item 297186	NM_024009.3(GJB3):c.-159T>C	GJB3	Single nucleotide variant (5 prime UTR variant)	Erythrokeratodermia variabilis et progressiva 1	GUncertain significance
Select item 874841	NM_024009.3(GJB3):c.-150C>T	GJB3	Single nucleotide variant (5 prime UTR variant)	Erythrokeratodermia variabilis et progressiva 1	GUncertain significance
Select item 297187	NM_024009.3(GJB3):c.-141C>G	GJB3	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 297188	NM_024009.3(GJB3):c.-93C>T	GJB3	Single nucleotide variant (5 prime UTR variant)	Erythrokeratodermia variabilis et progressiva 1	GUncertain significance
Select item 875773	NM_024009.3(GJB3):c.-70C>T	GJB3	Single nucleotide variant (5 prime UTR variant)	Erythrokeratodermia variabilis et progressiva 1	GUncertain significance
Select item 875774	NM_024009.3(GJB3):c.-40G>A	GJB3	Single nucleotide variant (5 prime UTR variant)	Erythrokeratodermia variabilis et progressiva 1	GBenign
Select item 672974	NM_024009.3(GJB3):c.-25-46A>G	GJB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 297189	NM_024009.3(GJB3):c.-18C>T	GJB3	Single nucleotide variant (5 prime UTR variant)	Erythrokeratodermia variabilis et progressiva 1	GLikely benign
Select item 163526	NM_024009.3(GJB3):c.-4C>T	GJB3	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 875775	NM_024009.3(GJB3):c.-3G>A	GJB3	Single nucleotide variant (5 prime UTR variant)	Erythrokeratodermia variabilis et progressiva 1 +1 more	GConflicting classifications of pathogenicity
Select item 627448	NM_024009.3(GJB3):c.8G>A (p.Trp3Ter)	GJB3 (W3*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 1A	GPathogenic
Select item 668703	NM_024009.3(GJB3):c.33C>T (p.Ser11=)	GJB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2733870	NM_024009.3(GJB3):c.34G>A (p.Gly12Ser)	GJB3 (G12S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 6482	NM_024009.3(GJB3):c.34G>C (p.Gly12Arg)	GJB3 (G12R)	Single nucleotide variant (missense variant)	Erythrokeratodermia variabilis et progressiva 1	GPathogenic
Select item 6483	NM_024009.3(GJB3):c.35G>A (p.Gly12Asp)	GJB3 (G12D)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1306006	NM_024009.3(GJB3):c.53C>T (p.Thr18Ile)	GJB3 (T18I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 711664	NM_024009.3(GJB3):c.57G>A (p.Ala19=)	GJB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 875776	NM_024009.3(GJB3):c.61G>A (p.Gly21Arg)	GJB3 (G21R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 178350	NM_024009.3(GJB3):c.64C>T (p.Arg22Cys)	GJB3 (R22C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2546690	NM_024009.3(GJB3):c.65G>T (p.Arg22Leu)	GJB3 (R22L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1308798	NM_024009.3(GJB3):c.65G>A (p.Arg22His)	GJB3 (R22H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 930512	NM_024009.3(GJB3):c.79G>A (p.Val27Met)	GJB3 (V27M)	Single nucleotide variant (missense variant)	Erythrokeratodermia variabilis et progressiva 1 +1 more	GUncertain significance
Select item 3033859	NM_024009.3(GJB3):c.87C>T (p.Phe29=)	GJB3	Single nucleotide variant (synonymous variant)	GJB3-related condition	GLikely benign
Select item 46088	NM_024009.3(GJB3):c.94C>T (p.Arg32Trp)	GJB3 (R32W)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 179079	NM_024009.3(GJB3):c.99G>A (p.Val33=)	GJB3	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 6491	NM_024009.3(GJB3):c.101T>C (p.Leu34Pro)	GJB3 (L34P)	Single nucleotide variant (missense variant)	Erythrokeratodermia variabilis et progressiva 1	GPathogenic
Select item 2501645	NM_024009.3(GJB3):c.104T>C (p.Val35Ala)	GJB3 (V35A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3046327	NM_024009.3(GJB3):c.108C>T (p.Tyr36=)	GJB3	Single nucleotide variant (synonymous variant)	GJB3-related condition	GLikely benign
Select item 1254908	NM_024009.3(GJB3):c.109G>C (p.Val37Leu)	GJB3 (V37L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 226643	NM_024009.3(GJB3):c.109G>A (p.Val37Met)	GJB3 (V37M)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 421156	NM_024009.3(GJB3):c.110T>A (p.Val37Glu)	GJB3 (V37E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1312313	NM_024009.3(GJB3):c.123G>T (p.Glu41Asp)	GJB3 (E41D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 6489	NM_024009.3(GJB3):c.125G>C (p.Arg42Pro)	GJB3 (R42P)	Single nucleotide variant (missense variant)	Erythrokeratodermia variabilis et progressiva 1	GPathogenic
Select item 876774	NM_024009.3(GJB3):c.126C>T (p.Arg42=)	GJB3	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 2024873	NM_024009.3(GJB3):c.130del (p.Trp44fs)	GJB3 (W44fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1895992	NM_024009.3(GJB3):c.130T>A (p.Trp44Arg)	GJB3 (W44R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2733872	NM_024009.3(GJB3):c.131G>C (p.Trp44Ser)	GJB3 (W44S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1806585	NM_024009.3(GJB3):c.132G>A (p.Trp44Ter)	GJB3 (W44*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1201181	NM_024009.3(GJB3):c.134G>C (p.Gly45Ala)	GJB3 (G45A)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2607158	NM_024009.3(GJB3):c.156C>G (p.Asp52Glu)	GJB3 (D52E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2804435	NM_024009.3(GJB3):c.161A>C (p.Asn54Thr)	GJB3 (N54T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 297190	NM_024009.3(GJB3):c.165C>T (p.Thr55=)	GJB3	Single nucleotide variant (synonymous variant)	Erythrokeratodermia variabilis et progressiva 1	GLikely benign
Select item 449491	NM_024009.3(GJB3):c.166A>C (p.Lys56Gln)	GJB3 (K56Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1565535	NM_024009.3(GJB3):c.174C>T (p.Pro58=)	GJB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2498043	NM_024009.3(GJB3):c.175G>A (p.Gly59Ser)	GJB3 (G59S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1204989	NM_024009.3(GJB3):c.177C>A (p.Gly59=)	GJB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 876775	NM_024009.3(GJB3):c.186C>T (p.Asn62=)	GJB3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 740958	NM_024009.3(GJB3):c.187G>A (p.Val63Ile)	GJB3 (V63I)	Single nucleotide variant (missense variant)	GJB3-related condition +1 more	GConflicting classifications of pathogenicity
Select item 6490	NM_024009.3(GJB3):c.196_198del (p.Asp66del)	GJB3 (D66del)	Deletion (inframe_deletion)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1683967	NM_024009.3(GJB3):c.196G>A (p.Asp66Asn)	GJB3 (D66N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1329838	NM_024009.3(GJB3):c.197A>G (p.Asp66Gly)	GJB3 (D66G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306576	NM_024009.3(GJB3):c.219C>A (p.Asn73Lys)	GJB3 (N73K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 297191	NM_024009.3(GJB3):c.223C>T (p.Arg75Cys)	GJB3 (R75C)	Single nucleotide variant (missense variant)	GJB3-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1300950	NM_024009.3(GJB3):c.224G>A (p.Arg75His)	GJB3 (R75H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2498400	NM_024009.3(GJB3):c.233C>A (p.Ala78Asp)	GJB3 (A78D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 729734	NM_024009.3(GJB3):c.235C>T (p.Leu79=)	GJB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2243334	NM_024009.3(GJB3):c.239A>G (p.Gln80Arg)	GJB3 (Q80R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2096975	NM_024009.3(GJB3):c.241C>G (p.Leu81Val)	GJB3 (L81V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2792384	NM_024009.3(GJB3):c.243C>T (p.Leu81=)	GJB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1801955	NM_024009.3(GJB3):c.247T>C (p.Phe83Leu)	GJB3 (F83L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 876776	NM_024009.3(GJB3):c.249C>T (p.Phe83=)	GJB3	Single nucleotide variant (synonymous variant)	Erythrokeratodermia variabilis et progressiva 1	GUncertain significance
Select item 786722	NM_024009.3(GJB3):c.250G>A (p.Val84Ile)	GJB3 (V84I)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 2638641	NM_024009.3(GJB3):c.255A>G (p.Thr85=)	GJB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 6484	NM_024009.3(GJB3):c.256T>A (p.Cys86Ser)	GJB3 (C86S)	Single nucleotide variant (missense variant)	Erythrokeratodermia variabilis et progressiva 1	GPathogenic
Select item 2709977	NM_024009.3(GJB3):c.258C>A (p.Cys86Ter)	GJB3 (C86*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2999894	NM_024009.3(GJB3):c.262T>G (p.Ser88Ala)	GJB3 (S88A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 297192	NM_024009.3(GJB3):c.264G>A (p.Ser88=)	GJB3	Single nucleotide variant (synonymous variant)	GJB3-related condition +3 more	GBenign/Likely benign
Select item 1660833	NM_024009.3(GJB3):c.282C>T (p.His94=)	GJB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1434938	NM_024009.3(GJB3):c.283G>A (p.Val95Met)	GJB3 (V95M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2777304	NM_024009.3(GJB3):c.292C>A (p.Arg98Ser)	GJB3 (R98S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1440776	NM_024009.3(GJB3):c.292C>T (p.Arg98Cys)	GJB3 (R98C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 179376	NM_024009.3(GJB3):c.293G>A (p.Arg98His)	GJB3 (R98H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1704694	NM_024009.3(GJB3):c.295G>A (p.Glu99Lys)	GJB3 (E99K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 740984	NM_024009.3(GJB3):c.297G>A (p.Glu99=)	GJB3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 426999	NM_024009.3(GJB3):c.298G>A (p.Glu100Lys)	GJB3 (E100K)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1402757	NM_024009.3(GJB3):c.302G>A (p.Arg101Gln)	GJB3 (R101Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2067062	NM_024009.3(GJB3):c.311G>A (p.Arg104Gln)	GJB3 (R104Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 163529	NM_024009.3(GJB3):c.313C>A (p.His105Asn)	GJB3 (H105N)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 876777	NM_024009.3(GJB3):c.316C>T (p.Arg106Cys)	GJB3 (R106C)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 2B +2 more	GConflicting classifications of pathogenicity
Select item 873945	NM_024009.3(GJB3):c.317G>A (p.Arg106His)	GJB3 (R106H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1511335	NM_024009.3(GJB3):c.321G>C (p.Gln107His)	GJB3 (Q107H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1049996	NM_024009.3(GJB3):c.325C>A (p.His109Asn)	GJB3 (H109N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1205025	NM_024009.3(GJB3):c.328G>A (p.Gly110Arg)	GJB3 (G110R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 391256	NM_024009.3(GJB3):c.334C>A (p.Gln112Lys)	GJB3 (Q112K)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2794231	NM_024009.3(GJB3):c.335A>G (p.Gln112Arg)	GJB3 (Q112R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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