"Ambry Genetics"[submitter] AND "GJC2"[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 520879	NM_020435.4(GJC2):c.80G>A (p.Trp27Ter)	GJC2 (W27*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 520880	NM_020435.4(GJC2):c.83T>C (p.Leu28Pro)	GJC2 (L28P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely pathogenic
Select item 3099995	NM_020435.4(GJC2):c.86C>T (p.Thr29Met)	GJC2 (T29M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261981	NM_020435.4(GJC2):c.139T>C (p.Tyr47His)	GJC2 (Y47H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3099991	NM_020435.4(GJC2):c.175C>T (p.Arg59Trp)	GJC2 (R59W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3281467	NM_020435.4(GJC2):c.176G>C (p.Arg59Pro)	GJC2 (R59P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480771	NM_020435.4(GJC2):c.190G>A (p.Asp64Asn)	GJC2 (D64N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255075	NM_020435.4(GJC2):c.229G>A (p.Val77Met)	GJC2 (V77M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228682	NM_020435.4(GJC2):c.327G>C (p.Glu109Asp)	GJC2 (E109D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3099992	NM_020435.4(GJC2):c.370C>T (p.Pro124Ser)	GJC2 (P124S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2432126	NM_020435.4(GJC2):c.400G>A (p.Gly134Ser)	GJC2 (G134S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3099993	NM_020435.4(GJC2):c.405G>T (p.Trp135Cys)	GJC2 (W135C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 841232	NM_020435.4(GJC2):c.418G>A (p.Asp140Asn)	GJC2 (D140N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3099994	NM_020435.4(GJC2):c.440T>C (p.Met147Thr)	GJC2 (M147T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2340771	NM_020435.4(GJC2):c.442C>A (p.Leu148Met)	GJC2 (L148M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334053	NM_020435.4(GJC2):c.479G>A (p.Gly160Glu)	GJC2 (G160E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2164739	NM_020435.4(GJC2):c.530C>T (p.Ala177Val)	GJC2 (A177V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 994313	NM_020435.4(GJC2):c.550G>A (p.Ala184Thr)	GJC2 (A184T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 695399	NM_020435.4(GJC2):c.556G>T (p.Gly186Cys)	GJC2 (G186C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 3281468	NM_020435.4(GJC2):c.575C>T (p.Pro192Leu)	GJC2 (P192L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530360	NM_020435.4(GJC2):c.672G>T (p.Glu224Asp)	GJC2 (E224D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521638	NM_020435.4(GJC2):c.679T>A (p.Phe227Ile)	GJC2 (F227I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2227515	NM_020435.4(GJC2):c.913C>T (p.Pro305Ser)	GJC2 (P305S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229077	NM_020435.4(GJC2):c.919T>G (p.Ser307Ala)	GJC2 (S307A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482175	NM_020435.4(GJC2):c.934G>T (p.Ala312Ser)	GJC2 (A312S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1425334	NM_020435.4(GJC2):c.1013G>A (p.Arg338Gln)	GJC2 (R338Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2306578	NM_020435.4(GJC2):c.1021G>C (p.Glu341Gln)	GJC2 (E341Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1362059	NM_020435.4(GJC2):c.1038T>A (p.His346Gln)	GJC2 (H346Q)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 2266186	NM_020435.4(GJC2):c.1045A>C (p.Asn349His)	GJC2 (N349H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 568796	NM_020435.4(GJC2):c.1082G>T (p.Gly361Val)	GJC2 (G361V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2493496	NM_020435.4(GJC2):c.1144C>T (p.Arg382Trp)	GJC2 (R382W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 945347	NM_020435.4(GJC2):c.1150C>T (p.Pro384Ser)	GJC2 (P384S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2204381	NM_020435.4(GJC2):c.1151C>A (p.Pro384His)	GJC2 (P384H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3099990	NM_020435.4(GJC2):c.1177C>G (p.Arg393Gly)	GJC2 (R393G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1021338	NM_020435.4(GJC2):c.1208T>C (p.Val403Ala)	GJC2 (V403A)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 1298457	NM_020435.4(GJC2):c.1228G>A (p.Gly410Ser)	GJC2 (G410S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 445910	NM_020435.4(GJC2):c.1234C>T (p.His412Tyr)	GJC2 (H412Y)	Single nucleotide variant (missense variant)	Lymphatic malformation 3 +7 more	GUncertain significance
Select item 853781	NM_020435.4(GJC2):c.1240C>G (p.Arg414Gly)	GJC2 (R414G)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 1004704	NM_020435.4(GJC2):c.1254_1256del (p.Lys418_Pro419delinsAsn)	GJC2	Deletion (inframe_indel)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1017851	NM_020435.4(GJC2):c.1258A>G (p.Arg420Gly)	GJC2 (R420G)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance

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Items: 40