Related gene-specific medical variations for Gene (Select 5208) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2611983	NM_018566.4(YOD1):c.590A>G (p.Tyr197Cys)	PFKFB2, YOD1 (Y153C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488656	NM_018566.4(YOD1):c.761G>C (p.Gly254Ala)	PFKFB2, YOD1 (G210A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471062	NM_018566.4(YOD1):c.614C>A (p.Thr205Lys)	PFKFB2, YOD1 (T205K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468599	NM_018566.4(YOD1):c.1031A>G (p.Asn344Ser)	PFKFB2, YOD1 (N344S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2460081	NM_018566.4(YOD1):c.55C>T (p.Pro19Ser)	YOD1, PFKFB2 (P19S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2386079	NM_018566.4(YOD1):c.70C>A (p.Gln24Lys)	YOD1, PFKFB2 (Q24K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2352906	NM_018566.4(YOD1):c.598G>A (p.Ala200Thr)	YOD1, PFKFB2 (A156T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350558	NM_018566.4(YOD1):c.37C>T (p.His13Tyr)	YOD1, PFKFB2 (H13Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2349898	NM_018566.4(YOD1):c.253G>T (p.Gly85Cys)	YOD1, PFKFB2 (G41C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329841	NM_018566.4(YOD1):c.549A>C (p.Arg183Ser)	YOD1, PFKFB2 (R183S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313479	NM_018566.4(YOD1):c.58G>C (p.Gly20Arg)	PFKFB2, YOD1 (G20R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2285678	NM_018566.4(YOD1):c.290G>A (p.Cys97Tyr)	PFKFB2, YOD1 (C97Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275853	NM_018566.4(YOD1):c.640A>G (p.Lys214Glu)	YOD1, PFKFB2 (K214E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253269	NM_018566.4(YOD1):c.56C>T (p.Pro19Leu)	PFKFB2, YOD1 (P19L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2248100	NM_018566.4(YOD1):c.74A>G (p.Gln25Arg)	PFKFB2, YOD1 (Q25R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2246322	NM_018566.4(YOD1):c.453A>T (p.Arg151Ser)	PFKFB2, YOD1 (R107S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241061	NM_018566.4(YOD1):c.539C>G (p.Pro180Arg)	PFKFB2, YOD1 (P136R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210922	NM_018566.4(YOD1):c.124C>T (p.Arg42Trp)	YOD1, PFKFB2 (R42W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance