ClinVar for Gene (Select 333926) - ClinVar

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

Links from Gene

Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3423681	NM_005167.7(PPM1J):c.106C>A (p.Pro36Thr)	LOC120893153, PPM1J (P36T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3423680	NM_005167.7(PPM1J):c.1208G>A (p.Cys403Tyr)	PPM1J (C403Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3423679	NM_005167.7(PPM1J):c.523C>T (p.Arg175Cys)	PPM1J (R175C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309281	NM_005167.7(PPM1J):c.791T>C (p.Val264Ala)	PPM1J (V264A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309280	NM_005167.7(PPM1J):c.142G>A (p.Ala48Thr)	LOC120893153, PPM1J (A48T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217363	NM_005167.7(PPM1J):c.787C>G (p.Leu263Val)	PPM1J (L263V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217362	NM_005167.7(PPM1J):c.724C>A (p.Leu242Ile)	PPM1J (L242I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217361	NM_005167.7(PPM1J):c.598A>G (p.Thr200Ala)	PPM1J (T200A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217359	NM_005167.7(PPM1J):c.509C>T (p.Ser170Leu)	PPM1J (S170L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217358	NM_005167.7(PPM1J):c.338C>T (p.Ala113Val)	PPM1J (A113V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217357	NM_005167.7(PPM1J):c.1315G>T (p.Val439Leu)	PPM1J (V439L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217356	NM_005167.7(PPM1J):c.1204T>G (p.Ser402Ala)	PPM1J (S402A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217355	NM_005167.7(PPM1J):c.115G>T (p.Ala39Ser)	LOC120893153, PPM1J (A39S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217354	NM_005167.7(PPM1J):c.1126A>G (p.Thr376Ala)	PPM1J (T376A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217353	NM_005167.7(PPM1J):c.1051T>C (p.Tyr351His)	PPM1J (Y351H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063355	GRCh37/hg19 1p13.2(chr1:113095600-113554789)x3	CAPZA1, MOV10 +5 more	Copy number gain	not specified	GUncertain significance
Select item 2685818	GRCh37/hg19 1p13.2(chr1:113223619-113676753)x3	LRIG2, MOV10 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2685817	GRCh37/hg19 1p13.2(chr1:113201375-113571076)x3	CAPZA1, MOV10 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2685816	GRCh37/hg19 1p13.2(chr1:113192038-113703255)x3	CAPZA1, LRIG2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 2685577	GRCh37/hg19 1p13.3-13.1(chr1:110066946-116672408)x1	ADORA3, AHCYL1 +77 more	Copy number loss	not provided	GPathogenic
Select item 2638997	NM_005167.7(PPM1J):c.1206C>G (p.Ser402=)	PPM1J	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2570262	NM_005167.7(PPM1J):c.504G>A (p.Met168Ile)	PPM1J (M168I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547141	NM_005167.7(PPM1J):c.1352A>G (p.Glu451Gly)	PPM1J (E451G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542456	NM_005167.7(PPM1J):c.908G>A (p.Arg303His)	PPM1J (R303H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541159	NM_005167.7(PPM1J):c.1346C>G (p.Ala449Gly)	PPM1J (A449G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539434	NM_005167.7(PPM1J):c.42C>G (p.Ser14Arg)	LOC120893153, PPM1J (S14R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536170	NM_005167.7(PPM1J):c.1427G>A (p.Arg476His)	PPM1J (R476H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521671	NM_005167.7(PPM1J):c.95C>T (p.Ala32Val)	LOC120893153, PPM1J (A32V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520407	NM_005167.7(PPM1J):c.983G>A (p.Arg328His)	PPM1J (R328H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493508	NM_005167.7(PPM1J):c.430A>C (p.Ser144Arg)	PPM1J (S144R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491390	NM_005167.7(PPM1J):c.1453C>G (p.Leu485Val)	PPM1J (L485V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490604	NM_005167.7(PPM1J):c.1241A>C (p.Gln414Pro)	PPM1J (Q414P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484779	NM_005167.7(PPM1J):c.707T>C (p.Val236Ala)	PPM1J (V236A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480386	NM_005167.7(PPM1J):c.175A>G (p.Lys59Glu)	LOC120893153, PPM1J (K59E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471121	NM_005167.7(PPM1J):c.1238C>T (p.Thr413Ile)	PPM1J (T413I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467943	NM_005167.7(PPM1J):c.1025G>A (p.Arg342Gln)	PPM1J (R342Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457492	NM_005167.7(PPM1J):c.520C>T (p.His174Tyr)	PPM1J (H174Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425617	NC_000001.10:g.(?_112318699)_(115576848_?)del	AMPD1, AP4B1 +28 more	Deletion	Hereditary spastic paraplegia 47	GPathogenic
Select item 2424614	NC_000001.10:g.(?_111145905)_(114454813_?)del	ADORA3, AP4B1 +34 more	Deletion	not provided	GPathogenic
Select item 2395123	NM_005167.7(PPM1J):c.58C>A (p.Pro20Thr)	LOC120893153, PPM1J (P20T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391756	NM_005167.7(PPM1J):c.56C>G (p.Pro19Arg)	LOC120893153, PPM1J (P19R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390188	NM_005167.7(PPM1J):c.805C>A (p.Leu269Ile)	PPM1J (L269I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379077	NM_005167.7(PPM1J):c.79G>A (p.Asp27Asn)	LOC120893153, PPM1J (D27N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341994	NM_005167.7(PPM1J):c.884G>A (p.Arg295Gln)	PPM1J (R295Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329281	NM_005167.7(PPM1J):c.1045T>C (p.Trp349Arg)	PPM1J (W349R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307684	NM_005167.7(PPM1J):c.982C>T (p.Arg328Cys)	PPM1J (R328C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293569	NM_005167.7(PPM1J):c.103C>T (p.Pro35Ser)	LOC120893153, PPM1J (P35S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282637	NM_005167.7(PPM1J):c.856C>G (p.Arg286Gly)	PPM1J (R286G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260727	NM_005167.7(PPM1J):c.511C>T (p.Arg171Trp)	PPM1J (R171W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253445	NM_005167.7(PPM1J):c.575C>G (p.Ser192Trp)	PPM1J (S192W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247942	NM_005167.7(PPM1J):c.848T>C (p.Ile283Thr)	PPM1J (I283T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243113	NM_005167.7(PPM1J):c.305C>T (p.Pro102Leu)	LOC120893153, PPM1J (P102L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232891	NM_005167.7(PPM1J):c.1102G>A (p.Gly368Ser)	PPM1J (G368S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210722	NM_005167.7(PPM1J):c.817T>C (p.Tyr273His)	PPM1J (Y273H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207490	NM_005167.7(PPM1J):c.32A>C (p.His11Pro)	LOC120893153, PPM1J (H11P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809109	GRCh37/hg19 1p13.2(chr1:113247034-113775137)x3	LRIG2, PPM1J +3 more	Copy number gain	not provided	GUncertain significance
Select item 1527270	GRCh37/hg19 1p13.3-11.2(chr1:111647582-121343783)	NHLH2, NOTCH2 +78 more	Copy number gain	not specified	GPathogenic
Select item 1527171	GRCh37/hg19 1p21.3-13.2(chr1:95046805-114714931)	ADORA3, AGL +124 more	Copy number loss	not specified	GPathogenic
Select item 1182540	NM_005167.7(PPM1J):c.639G>T (p.Leu213Phe)	PPM1J (L213F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1047871	GRCh37/hg19 1p21.2-12(chr1:102021465-119737478)	ATP1A1, RAP1A +131 more	Copy number loss	Seizure +1 more	GPathogenic
Select item 687081	GRCh37/hg19 1p13.2(chr1:113234268-113743303)x3	LRIG2, MOV10 +4 more	Copy number gain	not provided	GUncertain significance
Select item 565140	GRCh37/hg19 1p13.2(chr1:113247033-113784170)x3	LRIG2, SLC16A1 +3 more	Copy number gain	not provided	GLikely benign
Select item 565139	GRCh37/hg19 1p13.2(chr1:113247033-113703255)x3	SLC16A1, TAFA3 +3 more	Copy number gain	not provided	GLikely benign
Select item 549573	NC_000001.11:g.112796384_112887499dup	CAPZA1, LINC01356 +12 more	Duplication	Primary amenorrhea	GUncertain significance
Select item 443336	GRCh37/hg19 1p22.1-11.2(chr1:93837992-121343783)x3	ABCA4, ABCD3 +177 more	Copy number gain	See cases	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 253907	GRCh37/hg19 1p13.2(chr1:113213652-113947403)x3	CAPZA1, MAGI3 +6 more	Copy number gain	See cases	GUncertain significance
Select item 221415	GRCh37/hg19 1p13.2(chr1:113134186-113265713)x3	CAPZA1, MOV10 +4 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 154886	GRCh38/hg38 1p21.1-12(chr1:104325484-119977655)x3	LINC01780, LINC02868 +563 more	Copy number gain	See cases	GPathogenic
Select item 146756	GRCh38/hg38 1p13.2(chr1:112625023-113046966)x3	CAPZA1, LINC01356 +27 more	Copy number gain	See cases	GLikely benign
Select item 58084	GRCh38/hg38 1p13.3-12(chr1:109756630-118650204)x3	ADORA3, AHCYL1 +391 more	Copy number gain	See cases	GPathogenic
Select item 57493	GRCh38/hg38 1p13.2(chr1:112147402-113470058)x3	TAFA3, WNT2B +61 more	Copy number gain	See cases	GUncertain significance
Select item 57014	GRCh38/hg38 1p13.2(chr1:112687324-113216458)x3	LINC01356, LINC01357 +32 more	Copy number gain	See cases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 74