"Ambry Genetics"[submitter] AND "PPIP5K1"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2348819	NM_001394395.1(PPIP5K1):c.4265T>C (p.Leu1422Pro)	PPIP5K1 (L1382P +13 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2371130	NM_001394395.1(PPIP5K1):c.4247G>C (p.Ser1416Thr)	PPIP5K1 (S1079T +13 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358128	NM_001394395.1(PPIP5K1):c.4187G>A (p.Cys1396Tyr)	PPIP5K1 (C1286Y +13 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348517	NM_001394395.1(PPIP5K1):c.4168G>A (p.Glu1390Lys)	PPIP5K1 (E1306K +13 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249718	NM_001394395.1(PPIP5K1):c.4048C>T (p.His1350Tyr)	PPIP5K1 (H1281Y +13 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596748	NM_001394395.1(PPIP5K1):c.4007G>A (p.Cys1336Tyr)	PPIP5K1 (C1246Y +13 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407490	NM_001394395.1(PPIP5K1):c.3992C>T (p.Ala1331Val)	PPIP5K1 (A1241V +13 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531597	NM_001394395.1(PPIP5K1):c.3940C>A (p.Pro1314Thr)	PPIP5K1 (P1232T +13 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304562	NM_001394395.1(PPIP5K1):c.3845T>C (p.Leu1282Pro)	PPIP5K1 (L1172P +13 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273677	NM_001394395.1(PPIP5K1):c.3826G>A (p.Gly1276Arg)	PPIP5K1 (G1194R +13 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240601	NM_001394395.1(PPIP5K1):c.3611C>T (p.Pro1204Leu)	PPIP5K1 (P1135L +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275285	NM_001394395.1(PPIP5K1):c.3488G>A (p.Arg1163His)	PPIP5K1 (R1053H +12 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312506	NM_001394395.1(PPIP5K1):c.1001A>G (p.Asn334Ser)	PPIP5K1 (N334S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2552277	NM_001394395.1(PPIP5K1):c.968G>C (p.Arg323Pro)	PPIP5K1 (R68P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2553542	NM_001394395.1(PPIP5K1):c.950G>T (p.Cys317Phe)	PPIP5K1 (C62F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2526686	NM_001394395.1(PPIP5K1):c.851G>A (p.Arg284Gln)	PPIP5K1 (R29Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2468638	NM_001394395.1(PPIP5K1):c.836A>G (p.Asp279Gly)	PPIP5K1 (D24G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2306343	NM_001394395.1(PPIP5K1):c.806A>C (p.His269Pro)	PPIP5K1 (H14P +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance