"Ambry Genetics"[submitter] AND "PITPNM3"[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2235402	NM_031220.4(PITPNM3):c.2807C>T (p.Ala936Val)	PITPNM3 (A936V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489018	NM_031220.4(PITPNM3):c.2753G>A (p.Arg918Gln)	PITPNM3 (R882Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1480920	NM_031220.4(PITPNM3):c.2732A>G (p.His911Arg)	PITPNM3 (H911R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1000923	NM_031220.4(PITPNM3):c.2705T>C (p.Ile902Thr)	PITPNM3 (I866T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2153363	NM_031220.4(PITPNM3):c.2573T>C (p.Ile858Thr)	PITPNM3 (I858T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2237055	NM_031220.4(PITPNM3):c.2341A>G (p.Ile781Val)	PITPNM3 (I781V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489228	NM_031220.4(PITPNM3):c.2201G>T (p.Arg734Met)	PITPNM3 (R698M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1305959	NM_031220.4(PITPNM3):c.2166G>C (p.Gln722His)	PITPNM3 (Q686H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 859724	NM_031220.4(PITPNM3):c.2045G>T (p.Arg682Leu)	PITPNM3 (R682L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1035682	NM_031220.4(PITPNM3):c.1916A>G (p.Asn639Ser)	PITPNM3 (N603S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2055695	NM_031220.4(PITPNM3):c.1781G>A (p.Arg594His)	PITPNM3 (R594H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2616260	NM_031220.4(PITPNM3):c.1621C>T (p.Arg541Cys)	PITPNM3 (R505C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1038050	NM_031220.4(PITPNM3):c.1566C>G (p.Ser522Arg)	PITPNM3 (S522R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 958643	NM_031220.4(PITPNM3):c.1487C>T (p.Pro496Leu)	PITPNM3 (P460L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2324748	NM_031220.4(PITPNM3):c.1432G>A (p.Asp478Asn)	PITPNM3 (D478N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1973065	NM_031220.4(PITPNM3):c.1378G>A (p.Val460Met)	PITPNM3 (V424M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2543853	NM_031220.4(PITPNM3):c.1271G>A (p.Arg424His)	PITPNM3 (R388H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1365059	NM_031220.4(PITPNM3):c.1186G>A (p.Asp396Asn)	PITPNM3 (D360N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1948977	NM_031220.4(PITPNM3):c.1177G>A (p.Asp393Asn)	PITPNM3 (D393N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 958309	NM_031220.4(PITPNM3):c.1139C>T (p.Pro380Leu)	PITPNM3 (P380L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 960383	NM_031220.4(PITPNM3):c.1051G>A (p.Glu351Lys)	PITPNM3 (E315K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1366477	NM_031220.4(PITPNM3):c.1016C>T (p.Pro339Leu)	PITPNM3 (P339L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1429531	NM_031220.4(PITPNM3):c.902A>G (p.Asp301Gly)	PITPNM3 (D301G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2518818	NM_031220.4(PITPNM3):c.862G>T (p.Ala288Ser)	PITPNM3 (A252S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2493333	NM_031220.4(PITPNM3):c.771T>A (p.Ser257Arg)	PITPNM3 (S257R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507982	NM_031220.4(PITPNM3):c.575C>T (p.Ser192Leu)	PITPNM3 (S156L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 198270	NM_031220.4(PITPNM3):c.507C>A (p.Phe169Leu)	PITPNM3 (F169L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 963262	NM_031220.4(PITPNM3):c.503A>G (p.His168Arg)	PITPNM3 (H132R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1467754	NM_031220.4(PITPNM3):c.382C>T (p.His128Tyr)	PITPNM3 (H92Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1015080	NM_031220.4(PITPNM3):c.348C>G (p.Ser116Arg)	PITPNM3 (S116R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 956862	NM_031220.4(PITPNM3):c.286C>T (p.Arg96Trp)	PITPNM3 (R60W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2277317	NM_031220.4(PITPNM3):c.247A>C (p.Thr83Pro)	PITPNM3 (T83P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1061838	NM_031220.4(PITPNM3):c.239C>T (p.Ala80Val)	PITPNM3 (A44V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2241776	NM_031220.4(PITPNM3):c.233G>A (p.Gly78Glu)	PITPNM3 (G78E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1004419	NM_031220.4(PITPNM3):c.145A>G (p.Ile49Val)	PITPNM3 (I49V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 853170	NM_031220.4(PITPNM3):c.35C>T (p.Pro12Leu)	PITPNM3 (P12L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 889027	NM_031220.4(PITPNM3):c.16C>T (p.Arg6Cys)	PITPNM3 (R6C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance

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Items: 37