ClinVar for Gene (Select 147699) - ClinVar

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Links from Gene

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3309296	NM_001080401.2(PPM1N):c.1164G>A (p.Lys388=)	PPM1N	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 3309294	NM_001080401.2(PPM1N):c.1006G>A (p.Ala336Thr)	PPM1N (A336T)	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 3309292	NM_001080401.2(PPM1N):c.758C>A (p.Ala253Glu)	PPM1N (A253E)	Single nucleotide variant (missense variant)	not specified	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 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 3217384	NM_001080401.2(PPM1N):c.646G>C (p.Gly216Arg)	PPM1N (G216R)	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 3217382	NM_001080401.2(PPM1N):c.304C>T (p.Leu102Phe)	PPM1N (L102F)	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 3217380	NM_001080401.2(PPM1N):c.1280A>G (p.Asp427Gly)	PPM1N (D427G)	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 3217378	NM_001080401.2(PPM1N):c.1012A>T (p.Arg338Trp)	PPM1N (R338W)	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 2558474	NM_001080401.2(PPM1N):c.169G>C (p.Gly57Arg)	PPM1N (G57R)	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 2528414	NM_001080401.2(PPM1N):c.244G>A (p.Ala82Thr)	LOC130064703, PPM1N (A82T)	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 2491489	NM_001080401.2(PPM1N):c.964A>C (p.Ile322Leu)	PPM1N (I322L)	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 2369726	NM_001080401.2(PPM1N):c.638C>T (p.Ala213Val)	PPM1N (A213V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2333372	NM_001080401.2(PPM1N):c.236T>C (p.Met79Thr)	LOC130064703, PPM1N (M79T)	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 2258855	NM_001080401.2(PPM1N):c.577G>A (p.Val193Met)	PPM1N (V193M)	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 2222322	NM_001080401.2(PPM1N):c.1283T>C (p.Met428Thr)	PPM1N (M428T)	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 2205411	NM_001080401.2(PPM1N):c.1217G>A (p.Cys406Tyr)	PPM1N (C406Y)	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
Select item 148766	GRCh38/hg38 19q13.32(chr19:45387389-46831000)x1	CALM3, CCDC61 +190 more	Copy number loss	See cases	GLikely pathogenic
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 58342	GRCh38/hg38 19q13.32(chr19:45481858-45710518)x1	EML2, EML2-AS1 +34 more	Copy number loss	See cases	GUncertain significance

ClinVar

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Links from Gene

Items: 43