ClinVar for Gene (Select 2701) - ClinVar

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Links from Gene

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3099953	NM_002060.3(GJA4):c.958C>T (p.Pro320Ser)	GJA4 (P320S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099952	NM_002060.3(GJA4):c.82G>T (p.Val28Leu)	GJA4 (V28L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099951	NM_002060.3(GJA4):c.701G>A (p.Arg234His)	GJA4 (R234H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099950	NM_002060.3(GJA4):c.698G>A (p.Cys233Tyr)	GJA4 (C233Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099949	NM_002060.3(GJA4):c.441C>G (p.Ile147Met)	GJA4 (I147M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2614315	NM_002060.3(GJA4):c.937C>A (p.Pro313Thr)	GJA4 (P313T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601681	NM_002060.3(GJA4):c.347T>G (p.Leu116Arg)	GJA4 (L116R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597857	NM_002060.3(GJA4):c.419C>T (p.Ala140Val)	GJA4 (A140V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465680	NM_002060.3(GJA4):c.550G>A (p.Val184Met)	GJA4 (V184M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458581	NM_002060.3(GJA4):c.532G>A (p.Gly178Ser)	GJA4 (G178S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411802	NM_002060.3(GJA4):c.605G>A (p.Arg202His)	GJA4 (R202H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376142	NM_002060.3(GJA4):c.611C>T (p.Thr204Met)	GJA4 (T204M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371870	NM_002060.3(GJA4):c.773C>G (p.Pro258Arg)	GJA4 (P258R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326308	NM_002060.3(GJA4):c.53C>T (p.Ser18Leu)	GJA4 (S18L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302530	NM_002060.3(GJA4):c.439A>G (p.Ile147Val)	GJA4 (I147V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265706	NM_002060.3(GJA4):c.386C>A (p.Ala129Asp)	GJA4 (A129D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241758	NM_002060.3(GJA4):c.248T>C (p.Leu83Pro)	GJA4 (L83P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222821	NM_002060.3(GJA4):c.779C>T (p.Thr260Met)	GJA4 (T260M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208869	NM_002060.3(GJA4):c.805G>A (p.Val269Met)	GJA4 (V269M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1808707	GRCh37/hg19 1p34.3(chr1:35104233-37357913)x1	ADPRS, AGO1 +32 more	Copy number loss	not provided	GPathogenic
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 996750	NM_002060.3(GJA4):c.121G>T (p.Gly41Cys)	GJA4 (G41C)	Single nucleotide variant (missense variant)	Cutaneous venous malformation +2 more	GPathogenic
Select item 789257	NM_002060.3(GJA4):c.394C>T (p.Arg132Cys)	GJA4 (R132C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 784943	NM_002060.3(GJA4):c.772C>T (p.Pro258Ser)	GJA4 (P258S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 686407	GRCh37/hg19 1p34.3(chr1:34915050-36163162)x3	DLGAP3, GJA4 +13 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 625764	GRCh37/hg19 1p35.1-34.3(chr1:32859415-36454915)	YARS1, ZBTB8A +41 more	Copy number loss	not provided	GPathogenic
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	CLSPN, COL8A2 +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 395434	GRCh37/hg19 1p34.3(chr1:34830287-36945093)x1	ADPRS, AGO1 +31 more	Copy number loss	See cases	GPathogenic
Select item 393937	GRCh37/hg19 1p34.3(chr1:35259746-35316037)x3	GJA4, SMIM12	Copy number gain	See cases	GUncertain significance
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LOC129929733, LOC129929734 +1145 more	Copy number gain	See cases	GPathogenic
Select item 148904	GRCh38/hg38 1p34.3(chr1:34753938-36055310)x1	AGO1, AGO3 +70 more	Copy number loss	See cases	GLikely pathogenic

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Links from Gene

Items: 35