ClinVar for Gene (Select 132160) - ClinVar

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Links from Gene

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3309290	NM_144641.4(PPM1M):c.938C>T (p.Ser313Leu)	PPM1M (S313L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309289	NM_144641.4(PPM1M):c.97C>G (p.Arg33Gly)	LOC129936853, PPM1M (R33G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309288	NM_144641.4(PPM1M):c.1199G>A (p.Arg400Gln)	PPM1M (R188Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309287	NM_144641.4(PPM1M):c.1097T>C (p.Leu366Pro)	PPM1M (L154P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217377	NM_144641.4(PPM1M):c.635A>G (p.Gln212Arg)	PPM1M (Q212R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3217376	NM_144641.4(PPM1M):c.571G>A (p.Ala191Thr)	PPM1M (A191T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217374	NM_144641.4(PPM1M):c.187C>G (p.Arg63Gly)	PPM1M (R63G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217373	NM_144641.4(PPM1M):c.1231C>T (p.His411Tyr)	PPM1M (H199Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062680	GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1	ABHD14A, ABHD14B +86 more	Copy number loss	not specified	GPathogenic
Select item 2612714	NM_144641.4(PPM1M):c.937T>G (p.Ser313Ala)	PPM1M (S313A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509184	NM_144641.4(PPM1M):c.1318G>A (p.Asp440Asn)	PPM1M (D228N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475205	NM_144641.4(PPM1M):c.386G>T (p.Gly129Val)	PPM1M (G129V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460206	NM_144641.4(PPM1M):c.202C>T (p.Pro68Ser)	PPM1M (P68S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427145	NC_000003.11:g.(?_52109903)_(53164416_?)del	ALAS1, BAP1 +28 more	Deletion	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 2423375	NC_000003.11:g.(?_52018081)_(53845433_?)del	ACY1, ALAS1 +35 more	Deletion	not provided	GUncertain significance
Select item 2392929	NM_144641.4(PPM1M):c.13T>C (p.Trp5Arg)	LOC129936853, PPM1M (W5R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386066	NM_144641.4(PPM1M):c.1159T>C (p.Trp387Arg)	PPM1M (W175R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374913	NM_144641.4(PPM1M):c.742C>T (p.Pro248Ser)	PPM1M (P248S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354849	NM_144641.4(PPM1M):c.398C>G (p.Ala133Gly)	PPM1M (A133G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298854	NM_144641.4(PPM1M):c.1357G>A (p.Gly453Ser)	PPM1M (G453S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288337	NM_144641.4(PPM1M):c.433C>T (p.Arg145Cys)	PPM1M (R145C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281795	NM_144641.4(PPM1M):c.1356G>T (p.Gln452His)	PPM1M (Q240H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248471	NM_144641.4(PPM1M):c.166C>G (p.Arg56Gly)	LOC129936853, PPM1M (R56G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224701	NM_144641.4(PPM1M):c.434G>A (p.Arg145His)	PPM1M (R145H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 980509	GRCh37/hg19 3p21.2-21.1(chr3:51975459-52561678)x4	RRP9, SEMA3G +23 more	Copy number gain	not provided	GUncertain significance
Select item 814444	GRCh37/hg19 3p21.2-21.1(chr3:51247306-53069942)x3	ABHD14A, ABHD14B +48 more	Copy number gain	not provided	GUncertain significance
Select item 687764	GRCh37/hg19 3p21.2-21.1(chr3:52195134-52869037)x1	ALAS1, BAP1 +24 more	Copy number loss	not provided	GPathogenic
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	APEH, HEMK1 +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253632	GRCh37/hg19 3p21.2-14.2(chr3:52086599-59689209)x1	ABHD6, ACOX2 +66 more	Copy number loss	See cases	GPathogenic
Select item 155564	GRCh38/hg38 3p21.2-14.3(chr3:51394434-55064449)x1	ABHD14A, ABHD14A-ACY1 +197 more	Copy number loss	See cases	GLikely pathogenic
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 33