PPM1N[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	LOC129391127, LOC129391128 +363 more	Copy number gain	See cases	GPathogenic
Select item 60278	GRCh38/hg38 19q13.32(chr19:45287256-45734078)x3	CKM, EML2 +69 more	Copy number gain	See cases	GUncertain significance
Select item 148766	GRCh38/hg38 19q13.32(chr19:45387389-46831000)x1	CALM3, CCDC61 +190 more	Copy number loss	See cases	GLikely pathogenic
Select item 58342	GRCh38/hg38 19q13.32(chr19:45481858-45710518)x1	EML2, EML2-AS1 +34 more	Copy number loss	See cases	GUncertain significance
Select item 3255562	NM_005619.5(RTN2):c.1216dup (p.Arg406fs)	PPM1N, RTN2 (R333fs +2 more)	Duplication (frameshift variant)	Hereditary spastic paraplegia 12	GUncertain significance
Select item 3309291	NM_001080401.2(PPM1N):c.143C>G (p.Ala48Gly)	PPM1N (A48G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598073	NM_001080401.2(PPM1N):c.151C>T (p.Arg51Cys)	PPM1N (R51C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2334046	NM_001080401.2(PPM1N):c.152G>A (p.Arg51His)	PPM1N (R51H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210348	NM_001080401.2(PPM1N):c.152G>C (p.Arg51Pro)	PPM1N (R51P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558474	NM_001080401.2(PPM1N):c.169G>C (p.Gly57Arg)	PPM1N (G57R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333372	NM_001080401.2(PPM1N):c.236T>C (p.Met79Thr)	LOC130064703, PPM1N (M79T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528414	NM_001080401.2(PPM1N):c.244G>A (p.Ala82Thr)	LOC130064703, PPM1N (A82T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217381	NM_001080401.2(PPM1N):c.281C>T (p.Pro94Leu)	PPM1N (P94L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3217382	NM_001080401.2(PPM1N):c.304C>T (p.Leu102Phe)	PPM1N (L102F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246906	NM_001080401.2(PPM1N):c.317G>C (p.Gly106Ala)	PPM1N (G106A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309293	NM_001080401.2(PPM1N):c.437G>C (p.Ser146Thr)	PPM1N (S146T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217383	NM_001080401.2(PPM1N):c.449G>A (p.Arg150His)	PPM1N (R150H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309299	NM_001080401.2(PPM1N):c.504G>C (p.Leu168Phe)	PPM1N (L168F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258855	NM_001080401.2(PPM1N):c.577G>A (p.Val193Met)	PPM1N (V193M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516008	NM_001080401.2(PPM1N):c.629G>T (p.Arg210Leu)	PPM1N (R210L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369726	NM_001080401.2(PPM1N):c.638C>T (p.Ala213Val)	PPM1N (A213V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217384	NM_001080401.2(PPM1N):c.646G>C (p.Gly216Arg)	PPM1N (G216R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309295	NM_001080401.2(PPM1N):c.656G>A (p.Arg219His)	PPM1N (R219H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309292	NM_001080401.2(PPM1N):c.758C>A (p.Ala253Glu)	PPM1N (A253E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535292	NM_001080401.2(PPM1N):c.793G>A (p.Glu265Lys)	PPM1N (E265K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267598	NM_001080401.2(PPM1N):c.881G>T (p.Arg294Leu)	PPM1N (R294L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491489	NM_001080401.2(PPM1N):c.964A>C (p.Ile322Leu)	PPM1N (I322L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309294	NM_001080401.2(PPM1N):c.1006G>A (p.Ala336Thr)	PPM1N (A336T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217378	NM_001080401.2(PPM1N):c.1012A>T (p.Arg338Trp)	PPM1N (R338W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404199	NM_001080401.2(PPM1N):c.1064G>A (p.Cys355Tyr)	PPM1N (C355Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217379	NM_001080401.2(PPM1N):c.1073C>G (p.Ala358Gly)	PPM1N (A358G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309296	NM_001080401.2(PPM1N):c.1164G>A (p.Lys388=)	PPM1N	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2205411	NM_001080401.2(PPM1N):c.1217G>A (p.Cys406Tyr)	PPM1N (C406Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217380	NM_001080401.2(PPM1N):c.1280A>G (p.Asp427Gly)	PPM1N (D427G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222322	NM_001080401.2(PPM1N):c.1283T>C (p.Met428Thr)	PPM1N (M428T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526667	GRCh37/hg19 19q13.31-13.32(chr19:45074342-46133841)	APOC1, APOC2 +36 more	Copy number gain	not specified	GUncertain significance
Select item 816085	GRCh37/hg19 19q13.32-13.33(chr19:45531056-48174177)x3	OPA3, PPP1R37 +74 more	Copy number gain	not provided	GUncertain significance
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 564588	GRCh37/hg19 19q13.32(chr19:45945375-46215558)x3	EML2, SNRPD2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 253540	GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1	APOC1, APOC2 +120 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 43