PPM1E[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic
Select item 151500	GRCh38/hg38 17q22-23.1(chr17:57418806-59735464)x1	C17orf47, CCDC182 +168 more	Copy number loss	See cases	GPathogenic
Select item 2480543	NM_014906.5(PPM1E):c.58G>C (p.Gly20Arg)	PPM1E (G20R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569824	NM_014906.5(PPM1E):c.74C>A (p.Pro25Gln)	PPM1E (P25Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264414	NM_014906.5(PPM1E):c.133T>C (p.Ser45Pro)	PPM1E (S45P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241714	NM_014906.5(PPM1E):c.139C>T (p.Pro47Ser)	PPM1E (P47S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614880	NM_014906.5(PPM1E):c.172G>T (p.Ala58Ser)	PPM1E (A58S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351171	NM_014906.5(PPM1E):c.218T>A (p.Val73Glu)	PPM1E (V73E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217331	NM_014906.5(PPM1E):c.264G>C (p.Glu88Asp)	PPM1E (E88D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275350	NM_014906.5(PPM1E):c.334T>G (p.Ser112Ala)	PPM1E (S112A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275351	NM_014906.5(PPM1E):c.341T>G (p.Val114Gly)	PPM1E (V114G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609638	NM_014906.5(PPM1E):c.344C>T (p.Pro115Leu)	PPM1E (P115L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555105	NM_014906.5(PPM1E):c.359A>G (p.Gln120Arg)	PPM1E (Q120R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217332	NM_014906.5(PPM1E):c.365C>A (p.Pro122Gln)	PPM1E (P122Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487843	NM_014906.5(PPM1E):c.400C>A (p.Arg134Ser)	PPM1E (R134S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530716	NM_014906.5(PPM1E):c.431G>T (p.Ser144Ile)	PPM1E (S144I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 152571	GRCh38/hg38 17q22(chr17:58940516-59008749)x3	LOC126862606, LOC129390904 +2 more	Copy number gain	See cases	GLikely benign
Select item 2543634	NM_014906.5(PPM1E):c.649G>A (p.Val217Met)	PPM1E (V217M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466353	NM_014906.5(PPM1E):c.658T>C (p.Phe220Leu)	PPM1E (F220L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217333	NM_014906.5(PPM1E):c.679C>G (p.Gln227Glu)	PPM1E (Q227E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 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 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 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 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 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 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 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 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 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 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 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 931109	NM_014906.5(PPM1E):c.*1892T>A	PPM1E, TRIM37	Single nucleotide variant (3 prime UTR variant +2 more)	Mulibrey nanism syndrome	GLikely pathogenic
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 2426129	NC_000017.10:g.(?_56798087)_(57771213_?)dup	CLTC, DHX40 +8 more	Duplication	not provided	GUncertain significance
Select item 1412084	NC_000017.10:g.(?_54671585)_(59938900_?)dup	TEX14, TRIM25 +54 more	Duplication	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 929382	GRCh37/hg19 17q22(chr17:56780562-57251609)x1	PPM1E, PRR11 +3 more	Copy number loss	See cases	GPathogenic
Select item 685605	GRCh37/hg19 17q22(chr17:57059828-57375023)x3	GDPD1, PPM1E +4 more	Copy number gain	not provided	GUncertain significance
Select item 444851	GRCh37/hg19 17q22(chr17:57045488-57404278)x3	GDPD1, SMG8 +4 more	Copy number gain	not provided	GUncertain significance
Select item 443558	GRCh37/hg19 17q22-23.2(chr17:56623275-60285107)x1	APPBP2, BCAS3 +29 more	Copy number loss	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 395155	GRCh37/hg19 17q22(chr17:57061085-57134239)x3	PPM1E, TRIM37	Copy number gain	See cases	GLikely benign
Select item 394663	GRCh37/hg19 17q22(chr17:56998237-57064254)x3	PPM1E, TRIM37	Copy number gain	See cases	GLikely benign
Select item 394267	GRCh37/hg19 17q22(chr17:52189051-57477162)x3	AKAP1, ANKFN1 +42 more	Copy number gain	See cases	GPathogenic
Select item 394158	GRCh37/hg19 17q21.33-23.2(chr17:49076980-58740945)x3	AKAP1, ANKFN1 +65 more	Copy number gain	See cases	GPathogenic
Select item 253549	GRCh37/hg19 17q22-23.3(chr17:56321134-62080001)x3	TANC2, DDX42 +66 more	Copy number gain	See cases	GPathogenic

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Items: 54