"GeneDx"[submitter] AND "GJA8"[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58089	GRCh38/hg38 1q21.1-21.2(chr1:143965076-149471555)x3	ACP6, ANKRD34A +168 more	Copy number gain	See cases	GPathogenic
Select item 59351	GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3	ACP6, ANKRD34A +153 more	Copy number gain	See cases	GPathogenic
Select item 59349	GRCh38/hg38 1q21.1-21.2(chr1:144572470-149076087)x3	ACP6, ANKRD34A +153 more	Copy number gain	See cases	GPathogenic
Select item 59337	GRCh38/hg38 1q21.1-21.2(chr1:145215697-148492647)x3	ACP6, ANKRD34A +129 more	Copy number gain	See cases	GPathogenic
Select item 146027	GRCh38/hg38 1q21.1-21.2(chr1:145338382-148599763)x3	ACP6, ANKRD34A +129 more	Copy number gain	See cases	GPathogenic
Select item 144787	GRCh38/hg38 1q21.1-21.2(chr1:146354110-148503773)x1	ACP6, BCL9 +58 more	Copy number loss	See cases	GPathogenic
Select item 146019	GRCh38/hg38 1q21.1-21.2(chr1:146355224-148494171)x3	ACP6, BCL9 +57 more	Copy number gain	See cases	GPathogenic
Select item 59866	GRCh38/hg38 1q21.1(chr1:146987841-148234205)x1	ACP6, BCL9 +38 more	Copy number loss	See cases	GPathogenic
Select item 59857	GRCh38/hg38 1q21.1-21.2(chr1:146987841-149343657)x1	LOC129931369, MIR5087 +69 more	Copy number loss	See cases	GPathogenic
Select item 1273012	NM_005267.5(GJA8):c.-11-330A>G	GJA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267692	NM_005267.5(GJA8):c.-11-131A>G	GJA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273241	NM_005267.5(GJA8):c.-11-48G>T	GJA8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2577732	NM_005267.5(GJA8):c.45T>G (p.Asn15Lys)	GJA8 (N15K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1800689	NM_005267.5(GJA8):c.71T>A (p.Val24Asp)	GJA8 (V24D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1704073	NM_005267.5(GJA8):c.130G>A (p.Val44Met)	GJA8 (V44M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 280147	NM_005267.5(GJA8):c.139G>C (p.Asp47His)	GJA8 (D47H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2579501	NM_005267.5(GJA8):c.146A>G (p.Gln49Arg)	GJA8 (Q49R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368350	NM_005267.5(GJA8):c.172C>A (p.Gln58Lys)	GJA8 (Q58K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574784	NM_005267.5(GJA8):c.178G>A (p.Gly60Ser)	GJA8 (G60S)	Single nucleotide variant (missense variant)	Cataract 1 multiple types +1 more	GPathogenic/Likely pathogenic
Select item 932286	NM_005267.5(GJA8):c.281G>A (p.Gly94Glu)	GJA8 (G94E)	Single nucleotide variant (missense variant)	Microphthalmia, isolated, with cataract 1 +2 more	GConflicting classifications of pathogenicity
Select item 1316537	NM_005267.5(GJA8):c.471C>G (p.Phe157Leu)	GJA8 (F157L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1511155	NM_005267.5(GJA8):c.473A>G (p.Lys158Arg)	GJA8 (K158R)	Single nucleotide variant (missense variant)	Cataract 1 multiple types +1 more	GUncertain significance
Select item 3375823	NM_005267.5(GJA8):c.547T>C (p.Cys183Arg)	GJA8 (C183R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1065588	NM_005267.5(GJA8):c.565C>T (p.Pro189Ser)	GJA8 (P189S)	Single nucleotide variant (missense variant)	Cataract 46 juvenile-onset +1 more	GConflicting classifications of pathogenicity
Select item 2581012	NM_005267.5(GJA8):c.592C>T (p.Arg198Trp)	GJA8 (R198W)	Single nucleotide variant (missense variant)	Cataract 1 multiple types +2 more	GConflicting classifications of pathogenicity
Select item 8726	NM_005267.5(GJA8):c.593G>A (p.Arg198Gln)	GJA8 (R198Q)	Single nucleotide variant (missense variant)	Cataract 1 multiple types +1 more	GConflicting classifications of pathogenicity
Select item 217323	NM_005267.5(GJA8):c.658A>G (p.Asn220Asp)	GJA8 (N220D)	Single nucleotide variant (missense variant)	Chromosome 1q21.1 deletion syndrome +3 more	GLikely benign
Select item 2574827	NM_005267.5(GJA8):c.736G>T (p.Glu246Ter)	GJA8 (E246*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 259707	NM_005267.5(GJA8):c.804C>T (p.Leu268=)	GJA8	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 1316556	NM_005267.5(GJA8):c.862G>A (p.Glu288Lys)	GJA8 (E288K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1316555	NM_005267.5(GJA8):c.1145A>G (p.Glu382Gly)	GJA8 (E382G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 368831	NM_005267.4(GJA8):c.*26dup	GJA8	Duplication (genic downstream transcript variant)	Zonular Pulverulent Cataract +2 more	GBenign
Select item 1293739	NC_000001.11:g.147909283del	GJA8	Deletion (genic downstream transcript variant)	not provided	GBenign
Select item 1282780	NC_000001.11:g.147909317=	GJA8	Single nucleotide variant (genic downstream transcript variant)	not provided	GBenign
Select item 1227765	NC_000001.11:g.147909431=	GJA8	Single nucleotide variant (genic downstream transcript variant)	not provided	GBenign
Select item 253935	GRCh37/hg19 1q21.2(chr1:147111289-147482311)x3	ACP6, GPR89B +2 more	Copy number gain	See cases	GUncertain significance
Select item 253629	GRCh37/hg19 1q21.1-21.2(chr1:146542843-147857135)x1	BCL9, FMO5 +6 more	Copy number loss	See cases	GPathogenic
Select item 253627	GRCh37/hg19 1q21.1-21.2(chr1:146535353-147867793)x3	PRKAB2, GJA8 +6 more	Copy number gain	See cases	GPathogenic
Select item 253505	GRCh37/hg19 1q21.1-21.2(chr1:146535353-147380935)x1	GJA5, CHD1L +5 more	Copy number loss	See cases	GPathogenic
Select item 253484	GRCh37/hg19 1q21.1-21.2(chr1:143500223-149763815)x3	ACP6, ANKRD34A +43 more	Copy number gain	See cases	GPathogenic
Select item 253461	GRCh37/hg19 1q21.1-21.2(chr1:146535353-147877206)x3	GPR89B, ACP6 +6 more	Copy number gain	See cases	GPathogenic
Select item 253451	GRCh37/hg19 1q21.1-21.2(chr1:146535353-147857135)x1	PRKAB2, CHD1L +6 more	Copy number loss	See cases	GPathogenic
Select item 253404	GRCh37/hg19 1q21.1-21.2(chr1:146535353-147844809)x1	BCL9, GJA5 +6 more	Copy number loss	See cases	GPathogenic
Select item 253386	GRCh37/hg19 1q21.1-21.2(chr1:146535353-147824207)x1	PRKAB2, GJA8 +6 more	Copy number loss	See cases	GPathogenic
Select item 59831	GRCh37/hg19 1q21.1-21.2(chr1:143646745-148752268)x1	ACP6, ANKRD34A +37 more	Copy number loss	See cases	GPathogenic
Select item 3361299	NM_005267.5(GJA8):c.603G>C (p.Glu201Asp)	GJA8 (E201D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 46