ClinVar for Gene (Select 5496) - ClinVar

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Links from Gene

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3217346	NM_177983.3(PPM1G):c.985A>G (p.Thr329Ala)	PPM1G (T329A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217345	NM_177983.3(PPM1G):c.581A>C (p.Asp194Ala)	PPM1G (D194A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217344	NM_177983.3(PPM1G):c.388A>G (p.Lys130Glu)	PPM1G (K130E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217343	NM_177983.3(PPM1G):c.218A>G (p.Lys73Arg)	PPM1G (K73R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217342	NM_177983.3(PPM1G):c.1537C>G (p.Leu513Val)	PPM1G (L513V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 2538307	NM_177983.3(PPM1G):c.595A>T (p.Thr199Ser)	PPM1G (T199S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514186	NM_177983.3(PPM1G):c.653C>T (p.Ser218Leu)	PPM1G (S218L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490097	NM_177983.3(PPM1G):c.407A>G (p.Asp136Gly)	PPM1G (D136G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467654	NM_177983.3(PPM1G):c.749G>A (p.Arg250Gln)	PPM1G (R250Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427541	NC_000002.11:g.(?_24443763)_(29022169_?)dup	ABHD1, ADCY3 +65 more	Duplication	not provided	GUncertain significance
Select item 2425074	NC_000002.11:g.(?_24443763)_(30143525_?)dup	ADGRF3, AGBL5 +72 more	Duplication	not provided	GUncertain significance
Select item 2405264	NM_177983.3(PPM1G):c.758A>G (p.Lys253Arg)	PPM1G (K253R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307577	NM_177983.3(PPM1G):c.1015A>C (p.Lys339Gln)	PPM1G (K339Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296909	NM_177983.3(PPM1G):c.301A>G (p.Ile101Val)	PPM1G (I101V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229288	NM_177983.3(PPM1G):c.1624A>G (p.Lys542Glu)	PPM1G (K542E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229090	NM_177983.3(PPM1G):c.1625A>C (p.Lys542Thr)	PPM1G (K542T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	ABHD1, ADAM17 +177 more	Copy number gain	not provided	GPathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1220534	GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3	OTOF, OXER1 +131 more	Copy number gain	See cases	GPathogenic
Select item 1176757	GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3	DNAJC27, DNAJC5G +131 more	Copy number gain	not provided	GLikely pathogenic
Select item 814225	GRCh37/hg19 2p23.3(chr2:27519013-27610482)x1	PPM1G, GTF3C2 +6 more	Copy number loss	not provided	GUncertain significance
Select item 687014	GRCh37/hg19 2p23.3(chr2:27583585-27637745)x1	EIF2B4, PPM1G +2 more	Copy number loss	not provided	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 153817	GRCh38/hg38 2p24.1-23.2(chr2:22579652-28525186)x1	TRY-GTA2-1, UBXN2A +321 more	Copy number loss	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 32