"Ambry Genetics"[submitter] AND "MPPE1"[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2342865	NM_023075.6(MPPE1):c.1182G>C (p.Lys394Asn)	MPPE1, GNAL (K331N +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2610897	NM_023075.6(MPPE1):c.1181A>G (p.Lys394Arg)	GNAL, MPPE1 (K331R +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2396490	NM_023075.6(MPPE1):c.1177C>T (p.Arg393Cys)	GNAL, MPPE1 (R371C +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2515067	NM_023075.6(MPPE1):c.1117C>T (p.Leu373Phe)	GNAL, MPPE1 (L373F +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2536251	NM_023075.6(MPPE1):c.1085G>A (p.Cys362Tyr)	GNAL, MPPE1 (C340Y +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2387978	NM_023075.6(MPPE1):c.1057C>T (p.Arg353Cys)	GNAL, MPPE1 (R331C +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2516222	NM_023075.6(MPPE1):c.1055C>T (p.Pro352Leu)	GNAL, MPPE1 (P289L +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2361916	NM_023075.6(MPPE1):c.1019C>T (p.Thr340Met)	MPPE1, GNAL (T277M +2 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2364182	NM_023075.6(MPPE1):c.851G>A (p.Arg284Gln)	MPPE1 (R262Q +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2321760	NM_023075.6(MPPE1):c.797C>T (p.Ala266Val)	MPPE1 (A266V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2364181	NM_023075.6(MPPE1):c.785G>A (p.Gly262Glu)	MPPE1 (G240E +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2411676	NM_023075.6(MPPE1):c.701G>A (p.Gly234Glu)	MPPE1 (G234E)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2407497	NM_023075.6(MPPE1):c.694C>T (p.Arg232Trp)	MPPE1 (R232W)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2588268	NM_023075.6(MPPE1):c.674G>A (p.Arg225Gln)	MPPE1 (R225Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2557196	NM_023075.6(MPPE1):c.659G>C (p.Arg220Thr)	MPPE1 (R220T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2311475	NM_023075.6(MPPE1):c.529G>C (p.Val177Leu)	MPPE1 (V177L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2404816	NM_023075.6(MPPE1):c.477C>G (p.Asp159Glu)	MPPE1 (D159E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2289201	NM_023075.6(MPPE1):c.461T>C (p.Val154Ala)	MPPE1 (V154A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2404726	NM_023075.6(MPPE1):c.457G>A (p.Val153Ile)	MPPE1 (V153I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2529479	NM_023075.6(MPPE1):c.440G>C (p.Ser147Thr)	MPPE1 (S147T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2367958	NM_023075.6(MPPE1):c.398C>T (p.Ala133Val)	MPPE1 (A133V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2484387	NM_023075.6(MPPE1):c.340G>A (p.Val114Ile)	MPPE1 (V114I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2325217	NM_023075.6(MPPE1):c.302C>T (p.Ala101Val)	MPPE1 (A101V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2232752	NM_023075.6(MPPE1):c.269A>C (p.Asp90Ala)	MPPE1 (D90A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2397350	NM_023075.6(MPPE1):c.252C>A (p.Phe84Leu)	MPPE1 (F84L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2385343	NM_023075.6(MPPE1):c.107T>A (p.Phe36Tyr)	MPPE1 (F36Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2471529	NM_023075.6(MPPE1):c.5C>T (p.Ala2Val)	MPPE1 (A2V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 27