GJA10[gene] - ClinVar

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Search results

Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 155438	GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1	AKIRIN2, ANKRD6 +299 more	Copy number loss	See cases	GPathogenic
Select item 58438	GRCh38/hg38 6q14.1-16.1(chr6:82569098-93753476)x1	AKIRIN2, ANKRD6 +220 more	Copy number loss	See cases	GPathogenic
Select item 146487	GRCh38/hg38 6q14.2-16.1(chr6:83838303-98822313)x1	SMIM8, SNHG5 +247 more	Copy number loss	See cases	GPathogenic
Select item 147590	GRCh38/hg38 6q14.3-15(chr6:85370716-90669793)x1	AKIRIN2, ANKRD6 +157 more	Copy number loss	See cases	GPathogenic
Select item 146127	GRCh38/hg38 6q14.3-16.1(chr6:85804273-93189258)x1	LOC129389576, LOC129389577 +153 more	Copy number loss	See cases	GPathogenic
Select item 153749	GRCh38/hg38 6q15(chr6:89339079-92096042)x3	ANKRD6, BACH2 +60 more	Copy number gain	See cases	GUncertain significance
Select item 3099943	NM_032602.2(GJA10):c.98G>A (p.Arg33Gln)	GJA10 (R33Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481425	NM_032602.2(GJA10):c.164A>G (p.Asn55Ser)	GJA10 (N55S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238804	NM_032602.2(GJA10):c.169C>T (p.Arg57Trp)	GJA10 (R57W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355676	NM_032602.2(GJA10):c.170G>A (p.Arg57Gln)	GJA10 (R57Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3099935	NM_032602.2(GJA10):c.187A>G (p.Asn63Asp)	GJA10 (N63D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555537	NM_032602.2(GJA10):c.190A>T (p.Ile64Phe)	GJA10 (I64F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598625	NM_032602.2(GJA10):c.199G>A (p.Asp67Asn)	GJA10 (D67N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281432	NM_032602.2(GJA10):c.275A>G (p.Tyr92Cys)	GJA10 (Y92C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099936	NM_032602.2(GJA10):c.304G>C (p.Ala102Pro)	GJA10 (A102P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099937	NM_032602.2(GJA10):c.392T>A (p.Ile131Lys)	GJA10 (I131K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299750	NM_032602.2(GJA10):c.428G>A (p.Arg143Lys)	GJA10 (R143K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281431	NM_032602.2(GJA10):c.486G>T (p.Leu162Phe)	GJA10 (L162F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391539	NM_032602.2(GJA10):c.505G>A (p.Val169Ile)	GJA10 (V169I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481866	NM_032602.2(GJA10):c.518T>C (p.Ile173Thr)	GJA10 (I173T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099938	NM_032602.2(GJA10):c.532C>T (p.Leu178Phe)	GJA10 (L178F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520540	NM_032602.2(GJA10):c.552C>A (p.His184Gln)	GJA10 (H184Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281430	NM_032602.2(GJA10):c.593T>G (p.Val198Gly)	GJA10 (V198G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265106	NM_032602.2(GJA10):c.599G>A (p.Cys200Tyr)	GJA10 (C200Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239390	NM_032602.2(GJA10):c.623A>C (p.Lys208Thr)	GJA10 (K208T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281435	NM_032602.2(GJA10):c.658G>C (p.Ala220Pro)	GJA10 (A220P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471189	NM_032602.2(GJA10):c.713T>C (p.Ile238Thr)	GJA10 (I238T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099939	NM_032602.2(GJA10):c.842C>G (p.Ser281Cys)	GJA10 (S281C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099940	NM_032602.2(GJA10):c.847C>T (p.Leu283Phe)	GJA10 (L283F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484109	NM_032602.2(GJA10):c.902C>G (p.Thr301Ser)	GJA10 (T301S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099941	NM_032602.2(GJA10):c.906G>A (p.Met302Ile)	GJA10 (M302I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222279	NM_032602.2(GJA10):c.925A>G (p.Arg309Gly)	GJA10 (R309G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656769	NM_032602.2(GJA10):c.943C>T (p.Pro315Ser)	GJA10 (P315S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3099930	NM_032602.2(GJA10):c.1018T>A (p.Trp340Arg)	GJA10 (W340R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404294	NM_032602.2(GJA10):c.1025G>T (p.Gly342Val)	GJA10 (G342V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470486	NM_032602.2(GJA10):c.1030G>C (p.Ala344Pro)	GJA10 (A344P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281434	NM_032602.2(GJA10):c.1076G>A (p.Gly359Asp)	GJA10 (G359D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491818	NM_032602.2(GJA10):c.1138T>A (p.Ser380Thr)	GJA10 (S380T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099931	NM_032602.2(GJA10):c.1141T>C (p.Phe381Leu)	GJA10 (F381L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369635	NM_032602.2(GJA10):c.1238T>A (p.Met413Lys)	GJA10 (M413K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207806	NM_032602.2(GJA10):c.1270C>T (p.Arg424Cys)	GJA10 (R424C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281433	NM_032602.2(GJA10):c.1271G>A (p.Arg424His)	GJA10 (R424H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2412491	NM_032602.2(GJA10):c.1283G>T (p.Arg428Leu)	GJA10 (R428L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342395	NM_032602.2(GJA10):c.1288G>A (p.Ala430Thr)	GJA10 (A430T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595858	NM_032602.2(GJA10):c.1307T>G (p.Leu436Trp)	GJA10 (L436W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460862	NM_032602.2(GJA10):c.1358G>A (p.Arg453Gln)	GJA10 (R453Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2256707	NM_032602.2(GJA10):c.1364G>A (p.Ser455Asn)	GJA10 (S455N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099933	NM_032602.2(GJA10):c.1403C>T (p.Ser468Leu)	GJA10 (S468L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569611	NM_032602.2(GJA10):c.1460C>T (p.Pro487Leu)	GJA10 (P487L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2474758	NM_032602.2(GJA10):c.1469A>G (p.Glu490Gly)	GJA10 (E490G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656770	NM_032602.2(GJA10):c.1477C>T (p.Gln493Ter)	GJA10 (Q493*)	Single nucleotide variant (nonsense)	not provided	GLikely benign
Select item 2403769	NM_032602.2(GJA10):c.1549G>A (p.Asp517Asn)	GJA10 (D517N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360820	NM_032602.2(GJA10):c.1590T>G (p.Asp530Glu)	GJA10 (D530E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099934	NM_032602.2(GJA10):c.1623C>A (p.Phe541Leu)	GJA10 (F541L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246238	NC_000006.11:g.(?_90518279)_(91296602_?)del	BACH2, CASP8AP2 +3 more	Deletion	not provided	GUncertain significance
Select item 3062943	GRCh37/hg19 6q15(chr6:90131062-90675512)x3	ANKRD6, BACH2 +4 more	Copy number gain	not specified	GUncertain significance
Select item 2685209	GRCh37/hg19 6q15-16.1(chr6:88018122-94565168)x1	AKIRIN2, ANKRD6 +24 more	Copy number loss	not provided	GPathogenic
Select item 1711170	GRCh37/hg19 6q14.1-16.1(chr6:78911022-98909173)x1	AKIRIN2, ANKRD6 +65 more	Copy number loss	See cases	GUncertain significance
Select item 1527265	GRCh37/hg19 6q15(chr6:90189085-90697359)	ANKRD6, BACH2 +4 more	Copy number gain	not specified	GUncertain significance
Select item 1527263	GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	AFG1L, AK9 +138 more	Copy number loss	not specified	GPathogenic
Select item 1527249	GRCh37/hg19 6q12-16.1(chr6:69938252-94379210)	BACH2, ADGRB3 +88 more	Copy number gain	not specified	GPathogenic
Select item 1340233	GRCh37/hg19 6q15-16.1(chr6:90008961-93761490)x1	ANKRD6, BACH2 +8 more	Copy number loss	not provided	GUncertain significance
Select item 980216	GRCh37/hg19 6q15(chr6:90285430-90706261)x3	ANKRD6, BACH2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 980215	GRCh37/hg19 6q15(chr6:90085893-90910484)x3	ANKRD6, BACH2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 814846	GRCh37/hg19 6q15(chr6:90108876-90806063)x3	RRAGD, MDN1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 689259	GRCh37/hg19 6q15-16.1(chr6:88783642-96282103)x3	ANKRD6, BACH2 +16 more	Copy number gain	not provided	GUncertain significance
Select item 688276	GRCh37/hg19 6q14.3-16.1(chr6:87627836-93698486)x1	AKIRIN2, ANKRD6 +26 more	Copy number loss	not provided	GUncertain significance
Select item 563199	GRCh37/hg19 6q14.1-16.1(chr6:81261418-97796269)x3	AKIRIN2, ANKRD6 +56 more	Copy number gain	not provided	GPathogenic
Select item 560055	Single allele	AKIRIN2, ANKRD6 +44 more	Deletion	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 442688	GRCh37/hg19 6q15-16.1(chr6:89941373-95634177)x3	ANKRD6, BACH2 +9 more	Copy number gain	See cases	GLikely benign

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Items: 73