ADPGK[gene] and "single gene"[properties] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2478024	NM_001365225.1(ADPGK):c.1422T>G (p.Ile474Met)	ADPGK (I351M +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090125	NM_001365225.1(ADPGK):c.1286C>T (p.Ala429Val)	ADPGK (A289V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222304	NM_001365225.1(ADPGK):c.1271G>A (p.Arg424Gln)	ADPGK (R185Q +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460595	NM_001365225.1(ADPGK):c.1265C>A (p.Thr422Asn)	ADPGK (T183N +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090119	NM_001365225.1(ADPGK):c.1259T>C (p.Ile420Thr)	ADPGK (I281T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090118	NM_001365225.1(ADPGK):c.1143C>A (p.Phe381Leu)	ADPGK (F259L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396736	NM_001365225.1(ADPGK):c.953C>T (p.Ala318Val)	ADPGK (A179V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524625	NM_001365225.1(ADPGK):c.929T>C (p.Ile310Thr)	ADPGK (I310T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273509	NM_001365225.1(ADPGK):c.928A>G (p.Ile310Val)	ADPGK (I71V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090179	NM_001365225.1(ADPGK):c.859G>C (p.Asp287His)	ADPGK (D165H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252862	NM_001365225.1(ADPGK):c.782C>G (p.Ser261Cys)	ADPGK (S139C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273484	NM_001365225.1(ADPGK):c.772G>C (p.Val258Leu)	ADPGK (V136L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249323	NM_001365225.1(ADPGK):c.733G>A (p.Val245Met)	ADPGK (V123M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090172	NM_001365225.1(ADPGK):c.700G>A (p.Asp234Asn)	ADPGK (D112N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3090169	NM_001365225.1(ADPGK):c.683G>A (p.Arg228Gln)	ADPGK (R228Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3273470	NM_001365225.1(ADPGK):c.670C>T (p.Pro224Ser)	ADPGK (P102S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3090162	NM_001365225.1(ADPGK):c.625A>G (p.Ile209Val)	ADPGK (I209V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2541301	NM_001365225.1(ADPGK):c.622C>T (p.Leu208Phe)	ADPGK (L86F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3090156	NM_001365225.1(ADPGK):c.558T>G (p.His186Gln)	ADPGK (H64Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2362968	NM_001365225.1(ADPGK):c.550A>G (p.Lys184Glu)	ADPGK (K184E +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2478025	NM_001365225.1(ADPGK):c.494A>G (p.Gln165Arg)	ADPGK (Q165R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3090147	NM_001365225.1(ADPGK):c.464A>G (p.Tyr155Cys)	ADPGK (Y33C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3273489	NM_001365225.1(ADPGK):c.437C>T (p.Ala146Val)	ADPGK (A146V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090144	NM_001365225.1(ADPGK):c.433G>C (p.Val145Leu)	ADPGK (V23L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273499	NM_001365225.1(ADPGK):c.422A>T (p.Asp141Val)	ADPGK (D19V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455399	NM_001365225.1(ADPGK):c.421G>A (p.Asp141Asn)	ADPGK (D141N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454873	NM_001365225.1(ADPGK):c.395T>C (p.Phe132Ser)	ADPGK (F132S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090137	NM_001365225.1(ADPGK):c.316C>T (p.His106Tyr)	ADPGK (H106Y)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2484240	NM_001365225.1(ADPGK):c.239A>C (p.Asn80Thr)	ADPGK (N80T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance

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Items: 29