Related gene-specific medical variations for Gene (Select 5150) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2547433	NM_001242318.3(PDE7A):c.1214A>G (p.His405Arg)	MTFR1, PDE7A (H379R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2543428	NM_001242318.3(PDE7A):c.1276A>G (p.Thr426Ala)	MTFR1, PDE7A (T400A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2540598	NM_001242318.3(PDE7A):c.1267C>A (p.Pro423Thr)	MTFR1, PDE7A (P397T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2535613	NM_001242318.3(PDE7A):c.1211G>A (p.Arg404His)	MTFR1, PDE7A (R378H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2477603	NM_001242318.3(PDE7A):c.469G>C (p.Asp157His)	MTFR1, PDE7A (D131H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2467209	NM_001242318.3(PDE7A):c.1199C>T (p.Pro400Leu)	MTFR1, PDE7A (P374L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2408418	NM_001242318.3(PDE7A):c.1180T>A (p.Tyr394Asn)	PDE7A, MTFR1 (Y368N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385152	NM_001242318.3(PDE7A):c.1213C>T (p.His405Tyr)	MTFR1, PDE7A (H379Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354779	NM_001242318.3(PDE7A):c.1427C>T (p.Pro476Leu)	MTFR1, PDE7A (P476L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344841	NM_001242318.3(PDE7A):c.1210C>T (p.Arg404Cys)	MTFR1, PDE7A (R378C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319617	NM_001242318.3(PDE7A):c.358T>A (p.Ser120Thr)	MTFR1, PDE7A (S120T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316764	NM_001242318.3(PDE7A):c.1397C>A (p.Ala466Asp)	PDE7A, MTFR1 (A440D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315634	NM_001242318.3(PDE7A):c.521C>T (p.Thr174Ile)	MTFR1, PDE7A (T148I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273974	NM_001242318.3(PDE7A):c.1267C>G (p.Pro423Ala)	MTFR1, PDE7A (P423A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2262570	NM_001242318.3(PDE7A):c.1069G>A (p.Ala357Thr)	PDE7A, MTFR1 (A331T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213973	NM_001242318.3(PDE7A):c.601A>G (p.Ile201Val)	MTFR1, PDE7A (I175V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance