ClinVar for Gene (Select 9989) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3309537	NM_001042388.3(PPP4R1):c.648G>T (p.Arg216Ser)	PPP4R1 (R127S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309536	NM_001042388.3(PPP4R1):c.719T>C (p.Ile240Thr)	PPP4R1 (I223T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309535	NM_001042388.3(PPP4R1):c.1325C>T (p.Ser442Leu)	PPP4R1 (S353L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309534	NM_001042388.3(PPP4R1):c.667G>A (p.Asp223Asn)	PPP4R1 (D206N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309533	NM_001042388.3(PPP4R1):c.901A>G (p.Ser301Gly)	PPP4R1 (S284G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309532	NM_001042388.3(PPP4R1):c.2110G>C (p.Val704Leu)	PPP4R1 (V687L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217838	NM_001042388.3(PPP4R1):c.897G>T (p.Leu299Phe)	PPP4R1 (L210F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217837	NM_001042388.3(PPP4R1):c.362G>A (p.Arg121Gln)	PPP4R1 (R104Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217836	NM_001042388.3(PPP4R1):c.2828T>C (p.Met943Thr)	PPP4R1 (M854T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217835	NM_001042388.3(PPP4R1):c.2742C>G (p.Ile914Met)	PPP4R1 (I897M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217834	NM_001042388.3(PPP4R1):c.2669G>A (p.Arg890Lys)	PPP4R1 (R873K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217833	NM_001042388.3(PPP4R1):c.2630G>T (p.Arg877Met)	PPP4R1 (R860M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217832	NM_001042388.3(PPP4R1):c.2549C>T (p.Thr850Ile)	PPP4R1 (T761I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217831	NM_001042388.3(PPP4R1):c.2020G>T (p.Asp674Tyr)	PPP4R1 (D585Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217830	NM_001042388.3(PPP4R1):c.1501A>G (p.Met501Val)	PPP4R1 (M484V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217829	NM_001042388.3(PPP4R1):c.149G>A (p.Arg50Lys)	PPP4R1 (R33K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3217828	NM_001042388.3(PPP4R1):c.1487C>G (p.Ser496Cys)	PPP4R1 (S496C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217827	NM_001042388.3(PPP4R1):c.1445C>G (p.Pro482Arg)	PPP4R1 (P393R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217826	NM_001042388.3(PPP4R1):c.1432G>A (p.Gly478Arg)	PPP4R1 (G478R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217825	NM_001042388.3(PPP4R1):c.1429G>A (p.Gly477Arg)	PPP4R1 (G477R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217823	NM_001042388.3(PPP4R1):c.1268A>G (p.Asn423Ser)	PPP4R1 (N406S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217822	NM_001042388.3(PPP4R1):c.1184T>G (p.Leu395Arg)	PPP4R1 (L306R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063563	GRCh37/hg19 18p11.32-11.21(chr18:136226-14352648)x1	ADCYAP1, AFG3L2 +63 more	Copy number loss	not specified	GPathogenic
Select item 3063558	GRCh37/hg19 18p11.32-11.21(chr18:136226-15161581)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	not specified	GPathogenic
Select item 3063542	GRCh37/hg19 18p11.31-11.21(chr18:2922899-15198990)x3	AFG3L2, AKAIN1 +51 more	Copy number gain	not specified	GPathogenic
Select item 3063541	GRCh37/hg19 18p11.32-11.22(chr18:136226-10365982)x1	ADCYAP1, AKAIN1 +38 more	Copy number loss	not specified	GPathogenic
Select item 3063540	GRCh37/hg19 18p11.32-11.21(chr18:136226-14455323)x3	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 3063537	GRCh37/hg19 18p11.32-11.21(chr18:136226-14148354)x3	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 3062373	GRCh37/hg19 18p11.32-11.21(chr18:136227-15157836)x3	ADCYAP1, AFG3L2 +65 more	Copy number gain	not specified	GPathogenic
Select item 2685611	GRCh37/hg19 18p11.32-11.21(chr18:136227-14585159)x1	ADCYAP1, AFG3L2 +64 more	Copy number loss	not provided	GPathogenic
Select item 2685058	GRCh37/hg19 18p11.32-q11.1(chr18:136227-18521285)x4	ADCYAP1, AFG3L2 +65 more	Copy number gain	not provided	GPathogenic
Select item 2684865	GRCh37/hg19 18p11.22(chr18:9609466-10792750)x3	APCDD1, NAPG +5 more	Copy number gain	not provided	GUncertain significance
Select item 2623326	NM_001042388.3(PPP4R1):c.609G>T (p.Met203Ile)	PPP4R1 (M186I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619059	NM_001042388.3(PPP4R1):c.2059A>G (p.Ile687Val)	PPP4R1 (I670V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605848	NM_001042388.3(PPP4R1):c.35A>T (p.Gln12Leu)	LOC130062155, PPP4R1 (Q12L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2579191	GRCh38/hg38 18p11.32-11.21(chr18:158286-14124574)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 2560298	NM_001042388.3(PPP4R1):c.490A>G (p.Ile164Val)	PPP4R1 (I164V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553441	NM_001042388.3(PPP4R1):c.286G>T (p.Asp96Tyr)	PPP4R1 (D96Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2541018	NM_001042388.3(PPP4R1):c.2761C>T (p.Arg921Cys)	PPP4R1 (R904C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536841	NM_001042388.3(PPP4R1):c.125A>G (p.Asp42Gly)	PPP4R1 (D25G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2534974	NM_001042388.3(PPP4R1):c.2837C>T (p.Ala946Val)	PPP4R1 (A929V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532664	NM_001042388.3(PPP4R1):c.2144A>T (p.Asp715Val)	PPP4R1 (D626V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519205	NM_001042388.3(PPP4R1):c.529C>G (p.Leu177Val)	PPP4R1 (L160V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511561	NM_001042388.3(PPP4R1):c.643C>T (p.Pro215Ser)	PPP4R1 (P126S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510078	NM_001042388.3(PPP4R1):c.1823A>G (p.Glu608Gly)	PPP4R1 (E519G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2446821	GRCh37/hg19 18p11.32-11.1(chr18:1-15400035)	ADCYAP1, AFG3L2 +65 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 2423825	NC_000018.9:g.(?_9102742)_(12725530_?)dup	AFG3L2, ANKRD12 +22 more	Duplication	Dystonic disorder	GUncertain significance
Select item 2409300	NM_001042388.3(PPP4R1):c.1400A>T (p.Asp467Val)	PPP4R1 (D467V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400504	NM_001042388.3(PPP4R1):c.497G>A (p.Arg166Gln)	PPP4R1 (R149Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396694	NM_001042388.3(PPP4R1):c.209T>C (p.Leu70Ser)	PPP4R1 (L70S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2377599	NM_001042388.3(PPP4R1):c.2537T>C (p.Phe846Ser)	PPP4R1 (F757S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369876	NM_001042388.3(PPP4R1):c.635T>A (p.Leu212His)	PPP4R1 (L212H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357588	NM_001042388.3(PPP4R1):c.1346A>T (p.Asp449Val)	PPP4R1 (D449V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357534	NM_001042388.3(PPP4R1):c.1567G>A (p.Val523Ile)	PPP4R1 (V506I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352713	NM_001042388.3(PPP4R1):c.114T>G (p.Phe38Leu)	PPP4R1 (F38L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2332818	NM_001042388.3(PPP4R1):c.2000C>T (p.Thr667Met)	PPP4R1 (T578M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326976	NM_001042388.3(PPP4R1):c.2695T>A (p.Phe899Ile)	PPP4R1 (F810I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313256	NM_001042388.3(PPP4R1):c.386C>T (p.Ser129Leu)	PPP4R1 (S112L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313199	NM_001042388.3(PPP4R1):c.1288T>C (p.Tyr430His)	PPP4R1 (Y341H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309618	NM_001042388.3(PPP4R1):c.602C>T (p.Ala201Val)	PPP4R1 (A112V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287747	NM_001042388.3(PPP4R1):c.1715A>G (p.Asp572Gly)	PPP4R1 (D483G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283296	NM_001042388.3(PPP4R1):c.1297A>G (p.Met433Val)	PPP4R1 (M344V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279140	NM_001042388.3(PPP4R1):c.2154G>T (p.Arg718Ser)	PPP4R1 (R629S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273249	NM_001042388.3(PPP4R1):c.26A>G (p.Glu9Gly)	LOC130062155, PPP4R1 (E9G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2272747	NM_001042388.3(PPP4R1):c.180A>G (p.Ile60Met)	PPP4R1 (Y7C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254090	NM_001042388.3(PPP4R1):c.1996G>C (p.Glu666Gln)	PPP4R1 (E577Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249348	NM_001042388.3(PPP4R1):c.1999A>G (p.Thr667Ala)	PPP4R1 (T578A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247134	NM_001042388.3(PPP4R1):c.1597G>A (p.Ala533Thr)	PPP4R1 (A533T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2217204	NM_001042388.3(PPP4R1):c.178A>G (p.Ile60Val)	PPP4R1 (I43V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2214294	NM_001042388.3(PPP4R1):c.311C>T (p.Ala104Val)	PPP4R1 (A104V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211819	NM_001042388.3(PPP4R1):c.2456C>T (p.Thr819Met)	PPP4R1 (T730M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808491	GRCh37/hg19 18p11.22(chr18:8585096-9660466)x1	ANKRD12, MTCL1 +5 more	Copy number loss	not provided	GUncertain significance
Select item 1807753	GRCh37/hg19 18p11.32-11.21(chr18:136227-11283184)x1	ADCYAP1, AKAIN1 +41 more	Copy number loss	not provided	GPathogenic
Select item 1706501	GRCh37/hg19 18p11.32-11.21(chr18:136226-14632436)x1	METTL4, MPPE1 +64 more	Copy number loss	See cases	GPathogenic
Select item 1706491	GRCh37/hg19 18p11.22-11.21(chr18:9569601-12218695)x1	MPPE1, NAPG +11 more	Copy number loss	See cases	GPathogenic
Select item 1703622	GRCh37/hg19 18p11.32-11.22(chr18:136226-10172941)	ADCYAP1, AKAIN1 +38 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 1703574	GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	CABYR, CBLN2 +267 more	Copy number gain	Trisomy 18	GPathogenic
Select item 1701345	GRCh37/hg19 18p11.32-11.21(chr18:47390-14854037)x3	FAM210A, LAMA1 +65 more	Copy number gain	not provided	GPathogenic
Select item 1526597	GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	not specified	GPathogenic
Select item 1526594	GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)	ADCYAP1, AFG3L2 +65 more	Copy number gain	not specified	GPathogenic
Select item 1526593	GRCh37/hg19 18p11.32-11.21(chr18:136226-14983938)	ADCYAP1, AFG3L2 +65 more	Copy number loss	not specified	GPathogenic
Select item 1526592	GRCh37/hg19 18p11.32-11.21(chr18:136226-14384326)	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 1526591	GRCh37/hg19 18p11.32-11.21(chr18:136226-13655146)	TUBB6, TWSG1 +58 more	Copy number loss	not specified	GPathogenic
Select item 1340066	GRCh37/hg19 18p11.32-q12.1(chr18:136226-25252276)x3	ABHD3, ADCYAP1 +95 more	Copy number gain	not provided	GPathogenic
Select item 1330176	GRCh37/hg19 18p11.32-11.1(chr18:10501-15410398)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 1326872	Single allele	AKAIN1, LIPG +174 more	Deletion	Intellectual disability	GPathogenic
Select item 1077182	Single allele	AFG3L2, AKAIN1 +50 more	Deletion	Deletion of short arm of chromosome 18	GPathogenic
Select item 979519	GRCh37/hg19 18p11.23-11.1(chr18:7598173-15422644)x1	MTCL1, CIDEA +36 more	Copy number loss	not provided	GPathogenic
Select item 816496	GRCh37/hg19 18p11.32-11.21(chr18:13034-15330525)x1	MYL12B, FAM210A +65 more	Copy number loss	See cases	GPathogenic
Select item 815988	GRCh37/hg19 18p11.32-q11.1(chr18:136226-18529578)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	not provided	GPathogenic
Select item 815987	GRCh37/hg19 18p11.32-11.21(chr18:136226-15175005)x1	MC2R, ZBTB14 +65 more	Copy number loss	not provided	GPathogenic
Select item 815986	GRCh37/hg19 18p11.32-11.21(chr18:136304-15143714)x1	CEP192, TUBB6 +65 more	Copy number loss	not provided	GPathogenic
Select item 815981	GRCh37/hg19 18p11.32-11.21(chr18:136226-13894429)x1	RAB12, RAB31 +62 more	Copy number loss	not provided	GPathogenic
Select item 815978	GRCh37/hg19 18p11.32-11.21(chr18:971295-11250447)x1	AKAIN1, EPB41L3 +31 more	Copy number loss	not provided	GPathogenic
Select item 815976	GRCh37/hg19 18p11.22(chr18:9285823-9559924)x1	PPP4R1, RALBP1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 815975	GRCh37/hg19 18p11.23-11.22(chr18:8165369-9557565)x3	MTCL1, TWSG1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 564565	GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x4	NDUFV2, POTEC +65 more	Copy number gain	not provided	GPathogenic
Select item 564564	GRCh37/hg19 18p11.32-11.21(chr18:136226-15198989)x1	DLGAP1, ZNF519 +65 more	Copy number loss	not provided	GPathogenic
Select item 564563	GRCh37/hg19 18p11.32-11.21(chr18:136226-15157836)x4	PSMG2, SMCHD1 +65 more	Copy number gain	not provided	GPathogenic
Select item 564562	GRCh37/hg19 18p11.32-11.21(chr18:958974-15181666)x3	LPIN2, SLC35G4 +55 more	Copy number gain	not provided	GPathogenic

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