PLIN4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	ABCA7, ABHD17A +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	ABCA7, ABHD17A +903 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063246, LOC130063247 +810 more	Copy number gain	See cases	GPathogenic
Select item 148645	GRCh38/hg38 19p13.3(chr19:3080621-4912622)x3	ANKRD24, APBA3 +223 more	Copy number gain	See cases	GLikely pathogenic
Select item 145080	GRCh38/hg38 19p13.3(chr19:3338024-4833139)x1	LOC121852974, LOC125371451 +193 more	Copy number loss	See cases	GPathogenic
Select item 60071	GRCh38/hg38 19p13.3(chr19:3554635-4690965)x1	ZFR2, ANKRD24 +142 more	Copy number loss	See cases	GPathogenic
Select item 155547	GRCh38/hg38 19p13.3(chr19:3788727-5147354)x1	ANKRD24, ARRDC5 +150 more	Copy number loss	See cases	GLikely pathogenic
Select item 144751	GRCh38/hg38 19p13.3(chr19:3947934-5196676)x3	ANKRD24, ARRDC5 +145 more	Copy number gain	See cases	GUncertain significance
Select item 59083	GRCh38/hg38 19p13.3(chr19:4008560-4763159)x3	ANKRD24, CHAF1A +99 more	Copy number gain	See cases	GPathogenic
Select item 57480	GRCh38/hg38 19p13.3(chr19:4417986-4721866)x1	CHAF1A, DPP9 +33 more	Copy number loss	See cases	GUncertain significance
Select item 2649037	NM_001367868.2(PLIN4):c.4107C>T (p.Gly1369=)	PLIN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2379004	NM_001367868.2(PLIN4):c.4028G>C (p.Gly1343Ala)	PLIN4 (G1343A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553612	NM_001367868.2(PLIN4):c.4006G>A (p.Gly1336Ser)	PLIN4 (G1336S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469560	NM_001367868.2(PLIN4):c.3998G>A (p.Ser1333Asn)	PLIN4 (S1333N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353815	NM_001367868.2(PLIN4):c.3967G>A (p.Glu1323Lys)	PLIN4 (E1324K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207719	NM_001367868.2(PLIN4):c.3935T>A (p.Leu1312His)	PLIN4 (L1313H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482432	NM_001367868.2(PLIN4):c.3932A>C (p.Glu1311Ala)	PLIN4 (E1312A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617395	NM_001367868.2(PLIN4):c.3913G>A (p.Ala1305Thr)	PLIN4 (A1306T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374995	NM_001367868.2(PLIN4):c.3910C>T (p.Arg1304Trp)	PLIN4 (R1304W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279708	NM_001367868.2(PLIN4):c.3878G>A (p.Gly1293Asp)	PLIN4 (G1294D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342824	NM_001367868.2(PLIN4):c.3832C>T (p.Arg1278Trp)	PLIN4 (R1278W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525216	NM_001367868.2(PLIN4):c.3829C>T (p.Leu1277Phe)	PLIN4 (L1278F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393939	NM_001367868.2(PLIN4):c.3767C>T (p.Ala1256Val)	PLIN4 (A1256V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2540985	NM_001367868.2(PLIN4):c.3706G>A (p.Glu1236Lys)	PLIN4 (E1236K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359851	NM_001367868.2(PLIN4):c.3647A>C (p.His1216Pro)	PLIN4 (H1216P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2518428	NM_001367868.2(PLIN4):c.3629C>T (p.Ala1210Val)	PLIN4 (A1211V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2391328	NM_001367868.2(PLIN4):c.3623A>G (p.Glu1208Gly)	PLIN4 (E1208G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353541	NM_001367868.2(PLIN4):c.3614G>A (p.Arg1205Gln)	PLIN4 (R1205Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282021	NM_001367868.2(PLIN4):c.3554C>T (p.Ser1185Leu)	PLIN4 (S1186L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328049	NM_001367868.2(PLIN4):c.3550C>G (p.Leu1184Val)	PLIN4 (L1184V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214780	NM_001367868.2(PLIN4):c.3538G>A (p.Gly1180Arg)	PLIN4 (G1181R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311118	NM_001367868.2(PLIN4):c.3478G>A (p.Gly1160Arg)	PLIN4 (G1160R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510615	NM_001367868.2(PLIN4):c.3443G>A (p.Arg1148His)	PLIN4 (R1149H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2548806	NM_001367868.2(PLIN4):c.3430G>A (p.Glu1144Lys)	PLIN4 (E1144K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2649038	NM_001367868.2(PLIN4):c.3429C>T (p.Pro1143=)	PLIN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2229568	NM_001367868.2(PLIN4):c.3388G>A (p.Gly1130Ser)	PLIN4 (G1130S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243747	NM_001367868.2(PLIN4):c.3263C>T (p.Pro1088Leu)	PLIN4 (P1089L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2492251	NM_001367868.2(PLIN4):c.3247A>G (p.Ser1083Gly)	PLIN4 (S1083G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217855	NM_001367868.2(PLIN4):c.3196G>A (p.Gly1066Arg)	PLIN4 (G1066R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402831	NM_001367868.2(PLIN4):c.3181G>A (p.Ala1061Thr)	PLIN4 (A1061T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2649039	NM_001367868.2(PLIN4):c.3180C>T (p.Pro1060=)	PLIN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649040	NM_001367868.2(PLIN4):c.3123G>A (p.Ala1041=)	PLIN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2351706	NM_001367868.2(PLIN4):c.3117C>G (p.Asn1039Lys)	PLIN4 (N1040K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480731	NM_001367868.2(PLIN4):c.3089T>C (p.Val1030Ala)	PLIN4 (V1030A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2527464	NM_001367868.2(PLIN4):c.3086C>A (p.Ala1029Glu)	PLIN4 (A1029E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2457827	NM_001367868.2(PLIN4):c.3073G>A (p.Gly1025Arg)	PLIN4 (G1025R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554586	NM_001367868.2(PLIN4):c.3028G>T (p.Gly1010Trp)	PLIN4 (G1011W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311421	NM_001367868.2(PLIN4):c.3008G>A (p.Gly1003Asp)	PLIN4 (G1003D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526490	NM_001367868.2(PLIN4):c.3004A>T (p.Thr1002Ser)	PLIN4 (T1002S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613761	NM_001367868.2(PLIN4):c.2935G>A (p.Val979Met)	PLIN4 (V980M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2385061	NM_001367868.2(PLIN4):c.2836G>A (p.Val946Ile)	PLIN4 (V946I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2374301	NM_001367868.2(PLIN4):c.2815G>A (p.Val939Ile)	PLIN4 (V939I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2649041	NM_001367868.2(PLIN4):c.2775C>T (p.Thr925=)	PLIN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649042	NM_001367868.2(PLIN4):c.2772G>A (p.Leu924=)	PLIN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649043	NM_001367868.2(PLIN4):c.2770C>T (p.Leu924=)	PLIN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2486004	NM_001367868.2(PLIN4):c.2756C>A (p.Thr919Asn)	PLIN4 (T919N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219054	NM_001367868.2(PLIN4):c.2722T>G (p.Leu908Val)	PLIN4 (L909V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2597683	NM_001367868.2(PLIN4):c.2672T>C (p.Leu891Pro)	PLIN4 (L892P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355827	NM_001367868.2(PLIN4):c.2618C>T (p.Ala873Val)	PLIN4 (A873V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2521215	NM_001367868.2(PLIN4):c.2572G>A (p.Ala858Thr)	PLIN4 (A859T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344421	NM_001367868.2(PLIN4):c.2563C>A (p.Gln855Lys)	PLIN4 (Q855K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2389500	NM_001367868.2(PLIN4):c.2494G>A (p.Val832Ile)	PLIN4 (V832I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604882	NM_001367868.2(PLIN4):c.2489A>G (p.Asp830Gly)	PLIN4 (D830G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550179	NM_001367868.2(PLIN4):c.2459C>T (p.Thr820Met)	PLIN4 (T821M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341068	NM_001367868.2(PLIN4):c.2360C>A (p.Thr787Asn)	PLIN4 (T787N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369992	NM_001367868.2(PLIN4):c.2355G>A (p.Met785Ile)	PLIN4 (M785I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602714	NM_001367868.2(PLIN4):c.2344C>A (p.Gln782Lys)	PLIN4 (Q783K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226371	NM_001367868.2(PLIN4):c.2342T>C (p.Val781Ala)	PLIN4 (V781A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598541	NM_001367868.2(PLIN4):c.2336G>A (p.Gly779Glu)	PLIN4 (G779E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351622	NM_001367868.2(PLIN4):c.2330C>T (p.Ala777Val)	PLIN4 (A778V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259695	NM_001367868.2(PLIN4):c.2329G>A (p.Ala777Thr)	PLIN4 (A777T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2649044	NM_001367868.2(PLIN4):c.2298G>A (p.Val766=)	PLIN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649045	NM_001367868.2(PLIN4):c.2292T>C (p.Asp764=)	PLIN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2457321	NM_001367868.2(PLIN4):c.2278A>G (p.Thr760Ala)	PLIN4 (T761A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282686	NM_001367868.2(PLIN4):c.2259C>G (p.Asp753Glu)	PLIN4 (D754E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393373	NM_001367868.2(PLIN4):c.2252G>A (p.Gly751Asp)	PLIN4 (G751D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486174	NM_001367868.2(PLIN4):c.2251G>A (p.Gly751Ser)	PLIN4 (G752S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 403327	NM_001367868.2(PLIN4):c.2242A>G (p.Ile748Val)	PLIN4 (I748V)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2649046	NM_001367868.2(PLIN4):c.2183G>A (p.Gly728Asp)	PLIN4 (G728D +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2228555	NM_001367868.2(PLIN4):c.2131G>A (p.Ala711Thr)	PLIN4 (A711T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348131	NM_001367868.2(PLIN4):c.2074G>A (p.Val692Met)	PLIN4 (V692M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555319	NM_001367868.2(PLIN4):c.2063C>A (p.Thr688Lys)	PLIN4 (T688K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610178	NM_001367868.2(PLIN4):c.2057T>C (p.Val686Ala)	PLIN4 (V687A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550201	NM_001367868.2(PLIN4):c.2054G>T (p.Gly685Val)	PLIN4 (G686V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456631	NM_001367868.2(PLIN4):c.2044G>T (p.Ala682Ser)	PLIN4 (A682S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2649047	NM_001367868.2(PLIN4):c.1980G>A (p.Ala660=)	PLIN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2385250	NM_001367868.2(PLIN4):c.1964C>T (p.Thr655Met)	PLIN4 (T655M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2561224	NM_001367868.2(PLIN4):c.1952C>T (p.Thr651Ile)	PLIN4 (T651I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513789	NM_001367868.2(PLIN4):c.1924G>A (p.Val642Met)	PLIN4 (V642M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2533483	NM_001367868.2(PLIN4):c.1901T>A (p.Ile634Asn)	PLIN4 (I634N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594958	NM_001367868.2(PLIN4):c.1799C>T (p.Thr600Ile)	PLIN4 (T601I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2601157	NM_001367868.2(PLIN4):c.1787G>T (p.Gly596Val)	PLIN4 (G596V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246831	NM_001367868.2(PLIN4):c.1786G>A (p.Gly596Ser)	PLIN4 (G597S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252828	NM_001367868.2(PLIN4):c.1747G>A (p.Val583Ile)	PLIN4 (V583I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2649048	NM_001367868.2(PLIN4):c.1740G>A (p.Lys580=)	PLIN4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2296597	NM_001367868.2(PLIN4):c.1658G>T (p.Gly553Val)	PLIN4 (G553V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525677	NM_001367868.2(PLIN4):c.1633G>A (p.Val545Met)	PLIN4 (V546M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361048	NM_001367868.2(PLIN4):c.1588G>A (p.Gly530Ser)	PLIN4 (G531S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2411283	NM_001367868.2(PLIN4):c.1571C>G (p.Thr524Ser)	PLIN4 (T525S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2405424	NM_001367868.2(PLIN4):c.1559G>A (p.Gly520Asp)	PLIN4 (G520D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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