MPPE1[gene] and "single gene"[properties] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3203113	NM_023075.6(MPPE1):c.913C>G (p.His305Asp)	MPPE1 (H305D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3295741	NM_023075.6(MPPE1):c.782C>G (p.Ser261Cys)	MPPE1 (S261C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2411676	NM_023075.6(MPPE1):c.701G>A (p.Gly234Glu)	MPPE1 (G234E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2407497	NM_023075.6(MPPE1):c.694C>T (p.Arg232Trp)	MPPE1 (R232W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2588268	NM_023075.6(MPPE1):c.674G>A (p.Arg225Gln)	MPPE1 (R225Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557196	NM_023075.6(MPPE1):c.659G>C (p.Arg220Thr)	MPPE1 (R220T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311475	NM_023075.6(MPPE1):c.529G>C (p.Val177Leu)	MPPE1 (V177L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404816	NM_023075.6(MPPE1):c.477C>G (p.Asp159Glu)	MPPE1 (D159E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289201	NM_023075.6(MPPE1):c.461T>C (p.Val154Ala)	MPPE1 (V154A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404726	NM_023075.6(MPPE1):c.457G>A (p.Val153Ile)	MPPE1 (V153I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529479	NM_023075.6(MPPE1):c.440G>C (p.Ser147Thr)	MPPE1 (S147T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367958	NM_023075.6(MPPE1):c.398C>T (p.Ala133Val)	MPPE1 (A133V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484387	NM_023075.6(MPPE1):c.340G>A (p.Val114Ile)	MPPE1 (V114I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325217	NM_023075.6(MPPE1):c.302C>T (p.Ala101Val)	MPPE1 (A101V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232752	NM_023075.6(MPPE1):c.269A>C (p.Asp90Ala)	MPPE1 (D90A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397350	NM_023075.6(MPPE1):c.252C>A (p.Phe84Leu)	MPPE1 (F84L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203068	NM_023075.6(MPPE1):c.197G>A (p.Arg66His)	MPPE1 (R66H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2385343	NM_023075.6(MPPE1):c.107T>A (p.Phe36Tyr)	MPPE1 (F36Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295740	NM_023075.6(MPPE1):c.8T>C (p.Met3Thr)	MPPE1 (M3T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471529	NM_023075.6(MPPE1):c.5C>T (p.Ala2Val)	MPPE1 (A2V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 23