"GeneDx"[submitter] AND "GJA3"[gene] - ClinVar

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Items: 24

	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 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 311329	NM_021954.4(GJA3):c.*186TG[1]	GJA3	Microsatellite (3 prime UTR variant)	Zonular Pulverulent Cataract +1 more	GBenign
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 311335	NM_021954.4(GJA3):c.1083A>C (p.Pro361=)	GJA3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1310094	NM_021954.4(GJA3):c.1070G>A (p.Ser357Asn)	GJA3 (S357N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 261457	NM_021954.4(GJA3):c.1017G>A (p.Ala339=)	GJA3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 261459	NM_021954.4(GJA3):c.895C>A (p.Leu299Met)	GJA3 (L299M)	Single nucleotide variant (missense variant)	Cataract 14 multiple types +2 more	GBenign
Select item 261458	NM_021954.4(GJA3):c.543C>T (p.Cys181=)	GJA3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 880845	NM_021954.4(GJA3):c.395C>T (p.Ser132Leu)	GJA3 (S132L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 311347	NM_021954.4(GJA3):c.375A>G (p.Pro125=)	GJA3	Single nucleotide variant (synonymous variant)	Cataract 14 multiple types +1 more	GBenign/Likely benign
Select item 1481592	NM_021954.4(GJA3):c.226C>T (p.Arg76Cys)	GJA3 (R76C)	Single nucleotide variant (missense variant)	Cataract 14 multiple types +1 more	GLikely pathogenic
Select item 1184602	NM_021954.4(GJA3):c.184G>A (p.Glu62Lys)	GJA3 (E62K)	Single nucleotide variant (missense variant)	Cataract 14 multiple types +1 more	GConflicting classifications of pathogenicity
Select item 1305889	NM_021954.4(GJA3):c.161G>A (p.Cys54Tyr)	GJA3 (C54Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663261	NM_021954.4(GJA3):c.20T>C (p.Leu7Pro)	GJA3 (L7P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1706969	NM_021954.4(GJA3):c.-17-234_-17-233insAGGAA	GJA3	Insertion (intron variant)	not provided	GLikely benign
Select item 1707190	NM_021954.4(GJA3):c.-17-245_-17-235del	GJA3	Deletion (intron variant)	not provided	GLikely benign
Select item 1248572	NM_021954.4(GJA3):c.-17-299G>A	GJA3	Single nucleotide variant (intron 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 3362114	NM_021954.4(GJA3):c.1006C>T (p.Gln336Ter)	GJA3 (Q336*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance

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Items: 24