Related gene-specific medical variations for Gene (Select 22843) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3217329	NM_014906.5(PPM1E):c.2126G>A (p.Gly709Glu)	PPM1E, TRIM37 (G709E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217328	NM_014906.5(PPM1E):c.2068T>C (p.Phe690Leu)	PPM1E, TRIM37 (F690L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217327	NM_014906.5(PPM1E):c.1892A>G (p.Asn631Ser)	PPM1E, TRIM37 (N631S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217326	NM_014906.5(PPM1E):c.1492A>G (p.Ser498Gly)	PPM1E, TRIM37 (S498G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2647970	NM_014906.5(PPM1E):c.2053C>T (p.Pro685Ser)	PPM1E, TRIM37 (P685S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2615738	NM_014906.5(PPM1E):c.815T>C (p.Phe272Ser)	PPM1E, TRIM37 (F272S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595631	NM_014906.5(PPM1E):c.1979C>T (p.Pro660Leu)	PPM1E, TRIM37 (P660L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2589455	NM_014906.5(PPM1E):c.2035C>T (p.His679Tyr)	PPM1E, TRIM37 (H679Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460235	NM_014906.5(PPM1E):c.881G>A (p.Arg294His)	PPM1E, TRIM37 (R294H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398760	NM_014906.5(PPM1E):c.1450A>G (p.Ile484Val)	PPM1E, TRIM37 (I484V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344619	NM_014906.5(PPM1E):c.1774T>G (p.Phe592Val)	PPM1E, TRIM37 (F592V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323269	NM_014906.5(PPM1E):c.2259A>C (p.Lys753Asn)	PPM1E, TRIM37 (K753N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311818	NM_014906.5(PPM1E):c.2261T>C (p.Ile754Thr)	PPM1E, TRIM37 (I754T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299503	NM_014906.5(PPM1E):c.1978C>G (p.Pro660Ala)	PPM1E, TRIM37 (P660A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285959	NM_014906.5(PPM1E):c.2202G>A (p.Met734Ile)	PPM1E, TRIM37 (M734I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259833	NM_014906.5(PPM1E):c.1762C>T (p.Pro588Ser)	PPM1E, TRIM37 (P588S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232961	NM_014906.5(PPM1E):c.1966C>G (p.Gln656Glu)	PPM1E, TRIM37 (Q656E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1197064	NM_014906.5(PPM1E):c.*1914C>T	PPM1E, TRIM37	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 931109	NM_014906.5(PPM1E):c.*1892T>A	PPM1E, TRIM37	Single nucleotide variant (3 prime UTR variant +2 more)	Mulibrey nanism syndrome	GLikely pathogenic