PPP4R1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58716	GRCh38/hg38 18p11.32-11.21(chr18:10001-15380684)x3	LINC01892, LINC01895 +379 more	Copy number gain	See cases	GPathogenic
Select item 152926	GRCh38/hg38 18p11.32-11.21(chr18:14316-14206225)x3	ADCYAP1, AFG3L2 +373 more	Copy number gain	See cases	GPathogenic
Select item 153128	GRCh38/hg38 18p11.32-11.21(chr18:48782-14978076)x1	ADCYAP1, AFG3L2 +378 more	Copy number loss	See cases	GPathogenic
Select item 58720	GRCh38/hg38 18p11.32-q11.1(chr18:53345-20948503)x3	LINC00668, LINC01254 +379 more	Copy number gain	See cases	GPathogenic
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	LOC105372173, LOC105372179 +1646 more	Copy number gain	See cases	GPathogenic
Select item 59614	GRCh38/hg38 18p11.32-11.21(chr18:112259-14122522)x1	ADCYAP1, AFG3L2 +368 more	Copy number loss	See cases	GPathogenic
Select item 155127	GRCh38/hg38 18p11.32-11.21(chr18:118760-12642431)x3	ADCYAP1, AFG3L2 +300 more	Copy number gain	See cases	GUncertain significance
Select item 152548	GRCh38/hg38 18p11.32-11.21(chr18:118760-15024003)x1	ADCYAP1, AFG3L2 +374 more	Copy number loss	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC105372069, LOC105372071 +1643 more	Copy number gain	See cases	GPathogenic
Select item 148383	GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x1	LINC00470, LINC00526 +367 more	Copy number loss	See cases	GPathogenic
Select item 148382	GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x4	ADCYAP1, AFG3L2 +367 more	Copy number gain	See cases	GPathogenic
Select item 59910	GRCh38/hg38 18p11.32-11.22(chr18:131700-10536767)x1	ADCYAP1, AKAIN1 +237 more	Copy number loss	See cases	GPathogenic
Select item 59617	GRCh38/hg38 18p11.32-11.21(chr18:131700-14226905)x1	LOC125368546, LOC125368547 +368 more	Copy number loss	See cases	GPathogenic
Select item 59615	GRCh38/hg38 18p11.32-11.21(chr18:131700-15121055)x1	ADCYAP1, AFG3L2 +374 more	Copy number loss	See cases	GPathogenic
Select item 149042	GRCh38/hg38 18p11.32-11.21(chr18:133157-14089410)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 155410	GRCh38/hg38 18p11.32-11.21(chr18:136226-14337134)x3	LOC130062172, LOC130062173 +368 more	Copy number gain	See cases	GPathogenic
Select item 155367	GRCh38/hg38 18p11.32-11.21(chr18:136226-15198991)x4	RAB31, RALBP1 +374 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC121852961, LOC121852962 +1643 more	Copy number gain	See cases	GPathogenic
Select item 151749	GRCh38/hg38 18p11.32-11.21(chr18:136226-15175006)	ADCYAP1, AFG3L2 +374 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062369, LOC130062370 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160884	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC130062321, LOC130062322 +1643 more	Copy number gain	See cases	GPathogenic
Select item 148011	GRCh38/hg38 18p11.32-11.21(chr18:148963-10900517)x1	LOC130062167, LOC130062168 +245 more	Copy number loss	See cases	GPathogenic
Select item 146198	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x4	ADCYAP1, AFG3L2 +367 more	Copy number gain	See cases	GPathogenic
Select item 59916	GRCh38/hg38 18p11.32-11.21(chr18:148963-13068104)x1	ADCYAP1, AFG3L2 +327 more	Copy number loss	See cases	GPathogenic
Select item 59913	GRCh38/hg38 18p11.32-11.21(chr18:148963-13530126)x1	LOC130062212, LOC130062213 +344 more	Copy number loss	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	LOC130062687, LOC130062688 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58728	GRCh38/hg38 18p11.32-q11.1(chr18:148963-21040153)x3	ADCYAP1, AFG3L2 +375 more	Copy number gain	See cases	GPathogenic
Select item 57340	GRCh38/hg38 18p11.32-11.21(chr18:148963-13715860)x1	ADCYAP1, AFG3L2 +358 more	Copy number loss	See cases	GPathogenic
Select item 34384	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	ABHD3, ACAA2 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	CDH7, CELF4 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062768, LOC130062769 +1642 more	Copy number gain	See cases	GPathogenic
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 147704	GRCh38/hg38 18p11.32-11.22(chr18:180229-10762632)x1	TGIF1, THOC1 +241 more	Copy number loss	See cases	GPathogenic
Select item 154072	GRCh38/hg38 18p11.32-11.21(chr18:958974-11954935)x1	LOC112543419, LOC112543420 +246 more	Copy number loss	See cases	GPathogenic
Select item 58749	GRCh38/hg38 18p11.32-11.21(chr18:1919684-15325188)x3	LOC130062147, LOC130062148 +339 more	Copy number gain	See cases	GPathogenic
Select item 147396	GRCh38/hg38 18p11.32-11.21(chr18:2425507-11904118)x3	AKAIN1, ANKRD12 +230 more	Copy number gain	See cases	GPathogenic
Select item 59957	GRCh38/hg38 18p11.31-11.22(chr18:7154668-10068356)x1	ANKRD12, GACAT2 +67 more	Copy number loss	See cases	GPathogenic
Select item 148429	GRCh38/hg38 18p11.23-11.21(chr18:7290175-13049470)x1	LOC130062178, LOC130062179 +164 more	Copy number loss	See cases	GLikely pathogenic
Select item 155008	GRCh38/hg38 18p11.22-q11.2(chr18:8779843-24685379)x3	ABHD3, AFG3L2 +322 more	Copy number gain	See cases	GPathogenic
Select item 150127	GRCh38/hg38 18p11.22(chr18:9026805-9592203)x3	ANKRD12, LOC130062140 +20 more	Copy number gain	See cases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2560298	NM_001042388.3(PPP4R1):c.490A>G (p.Ile164Val)	PPP4R1 (I164V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2214294	NM_001042388.3(PPP4R1):c.311C>T (p.Ala104Val)	PPP4R1 (A104V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GLikely benign
Select item 2536841	NM_001042388.3(PPP4R1):c.125A>G (p.Asp42Gly)	PPP4R1 (D25G +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2605848	NM_001042388.3(PPP4R1):c.35A>T (p.Gln12Leu)	LOC130062155, PPP4R1 (Q12L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2273249	NM_001042388.3(PPP4R1):c.26A>G (p.Glu9Gly)	LOC130062155, PPP4R1 (E9G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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 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 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	PRELID3A, PSMG2 +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

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