GJA3[gene] - 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 311282	NM_021954.4(GJA3):c.*3609G>A	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GUncertain significance
Select item 880652	NM_021954.4(GJA3):c.*3509C>G	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GUncertain significance
Select item 311283	NM_021954.4(GJA3):c.*3393del	GJA3	Deletion (3 prime UTR variant)	Zonular Pulverulent Cataract	GUncertain significance
Select item 311284	NM_021954.4(GJA3):c.*3389G>A	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GUncertain significance
Select item 311285	NM_021954.4(GJA3):c.*3373del	GJA3	Deletion (3 prime UTR variant)	Zonular Pulverulent Cataract	GBenign
Select item 882067	NM_021954.4(GJA3):c.*3210A>G	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GUncertain significance
Select item 311286	NM_021954.4(GJA3):c.*3182T>G	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GUncertain significance
Select item 311287	NM_021954.4(GJA3):c.*3166C>T	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types +1 more	GBenign
Select item 311288	NM_021954.4(GJA3):c.*3108C>T	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GUncertain significance
Select item 311289	NM_021954.4(GJA3):c.*3099C>A	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GUncertain significance
Select item 882068	NM_021954.4(GJA3):c.*2931A>G	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GUncertain significance
Select item 311290	NM_021954.4(GJA3):c.*2923A>G	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GUncertain significance
Select item 311291	NM_021954.4(GJA3):c.*2870C>T	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GBenign
Select item 311292	NM_021954.4(GJA3):c.*2864T>C	GJA3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 311293	NM_021954.4(GJA3):c.*2831A>G	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types +1 more	GBenign
Select item 311294	NM_021954.4(GJA3):c.*2829A>T	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GUncertain significance
Select item 883216	NM_021954.4(GJA3):c.*2695C>T	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GUncertain significance
Select item 311295	NM_021954.4(GJA3):c.*2602T>C	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types +1 more	GBenign
Select item 311296	NM_021954.4(GJA3):c.*2593A>T	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types +1 more	GBenign
Select item 311297	NM_021954.4(GJA3):c.*2469T>C	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types +1 more	GBenign
Select item 311298	NM_021954.4(GJA3):c.*2426C>A	GJA3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 311299	NM_021954.4(GJA3):c.*2416A>G	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GBenign
Select item 884006	NM_021954.4(GJA3):c.*2363A>G	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GUncertain significance
Select item 884007	NM_021954.4(GJA3):c.*2340A>G	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GUncertain significance
Select item 311300	NM_021954.4(GJA3):c.*2311A>C	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GUncertain significance
Select item 311301	NM_021954.4(GJA3):c.*2231A>G	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types +1 more	GBenign
Select item 884008	NM_021954.4(GJA3):c.*2107T>A	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GUncertain significance
Select item 884009	NM_021954.4(GJA3):c.*2093A>C	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GUncertain significance
Select item 884010	NM_021954.4(GJA3):c.*2086G>T	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GUncertain significance
Select item 311302	NM_021954.4(GJA3):c.*2079A>G	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GUncertain significance
Select item 311303	NM_021954.4(GJA3):c.*1997G>A	GJA3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 880720	NM_021954.4(GJA3):c.*1965C>T	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GUncertain significance
Select item 880721	NM_021954.4(GJA3):c.*1957G>C	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GBenign
Select item 880722	NM_021954.4(GJA3):c.*1941C>G	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GUncertain significance
Select item 880723	NM_021954.4(GJA3):c.*1931G>C	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GUncertain significance
Select item 311304	NM_021954.4(GJA3):c.*1841C>T	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GUncertain significance
Select item 880724	NM_021954.4(GJA3):c.*1760G>A	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GUncertain significance
Select item 311305	NM_021954.4(GJA3):c.*1565A>G	GJA3	Single nucleotide variant (3 prime UTR variant)	Zonular Pulverulent Cataract	GUncertain significance
Select item 882120	NM_021954.4(GJA3):c.*1535C>T	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GUncertain significance
Select item 882121	NM_021954.4(GJA3):c.*1495G>C	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GUncertain significance
Select item 311306	NM_021954.4(GJA3):c.*1449C>T	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GUncertain significance
Select item 882122	NM_021954.4(GJA3):c.*1365G>A	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GUncertain significance
Select item 311307	NM_021954.4(GJA3):c.*1351C>T	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GBenign
Select item 311308	NM_021954.4(GJA3):c.*1257G>A	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types +1 more	GBenign
Select item 311309	NM_021954.4(GJA3):c.*1239C>G	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GUncertain significance
Select item 311310	NM_021954.4(GJA3):c.*1232T>C	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GUncertain significance
Select item 311311	NM_021954.4(GJA3):c.*1176A>C	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GUncertain significance
Select item 311312	NM_021954.4(GJA3):c.*1083T>C	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types +1 more	GBenign
Select item 311313	NM_021954.4(GJA3):c.*904G>T	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GBenign
Select item 311315	NM_021954.4(GJA3):c.*846G>A	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GUncertain significance
Select item 311314	NM_021954.4(GJA3):c.*846G>C	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GUncertain significance
Select item 311316	NM_021954.4(GJA3):c.*744A>G	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GUncertain significance
Select item 883267	NM_021954.4(GJA3):c.*740G>C	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GUncertain significance
Select item 311317	NM_021954.4(GJA3):c.*691G>A	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GUncertain significance
Select item 311318	NM_021954.4(GJA3):c.*647G>A	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GUncertain significance
Select item 311319	NM_021954.4(GJA3):c.*618G>A	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types +1 more	GBenign
Select item 311320	NM_021954.4(GJA3):c.*581A>G	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GBenign
Select item 311321	NM_021954.4(GJA3):c.*553C>T	GJA3	Single nucleotide variant (3 prime UTR variant)	Zonular Pulverulent Cataract	GUncertain significance
Select item 884076	NM_021954.4(GJA3):c.*532A>G	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GUncertain significance
Select item 311322	NM_021954.4(GJA3):c.*509A>G	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types +1 more	GBenign
Select item 311323	NM_021954.4(GJA3):c.*491T>A	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GBenign
Select item 311324	NM_021954.4(GJA3):c.420_434delinsATAGA	GJA3	Indel (3 prime UTR variant)	Zonular Pulverulent Cataract	GUncertain significance
Select item 311325	NM_021954.4(GJA3):c.*358T>C	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GBenign
Select item 311326	NM_021954.4(GJA3):c.*319G>T	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types +1 more	GBenign
Select item 311327	NM_021954.4(GJA3):c.*243G>A	GJA3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 880787	NM_021954.4(GJA3):c.*223T>G	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GBenign
Select item 880788	NM_021954.4(GJA3):c.*201G>C	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GUncertain significance
Select item 311328	NM_021954.4(GJA3):c.*198T>C	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GUncertain significance
Select item 311329	NM_021954.4(GJA3):c.*186TG[1]	GJA3	Microsatellite (3 prime UTR variant)	Zonular Pulverulent Cataract +1 more	GBenign
Select item 311330	NM_021954.4(GJA3):c.*101G>A	GJA3	Single nucleotide variant (3 prime UTR variant)	Cataract 14 multiple types	GUncertain significance
Select item 311331	NM_021954.4(GJA3):c.*47A>G	GJA3	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
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 468541	NC_000013.10:g.(?_20716100)_(20717447_?)dup	GJA3	Duplication	Cataract 14 multiple types	GUncertain significance
Select item 3045475	NM_021954.4(GJA3):c.*5C>T	GJA3	Single nucleotide variant (3 prime UTR variant)	GJA3-related disorder	GLikely benign
Select item 3281436	NM_021954.4(GJA3):c.1304T>C (p.Ile435Thr)	GJA3 (I435T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2314083	NM_021954.4(GJA3):c.1303A>G (p.Ile435Val)	GJA3 (I435V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 880789	NM_021954.4(GJA3):c.1276G>A (p.Gly426Arg)	GJA3 (G426R)	Single nucleotide variant (missense variant)	Cataract 14 multiple types	GUncertain significance
Select item 880790	NM_021954.4(GJA3):c.1256A>G (p.Lys419Arg)	GJA3 (K419R)	Single nucleotide variant (missense variant)	Cataract 14 multiple types	GUncertain significance
Select item 882179	NM_021954.4(GJA3):c.1240C>G (p.Pro414Ala)	GJA3 (P414A)	Single nucleotide variant (missense variant)	Cataract 14 multiple types	GUncertain significance

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