729359[geneid] - 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	LOC130063041, LOC130063042 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +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	PIP5K1C, PLIN4 +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)	not specified	GUncertain significance
Select item 2553612	NM_001367868.2(PLIN4):c.4006G>A (p.Gly1336Ser)	PLIN4 (G1336S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307757	NM_001367868.2(PLIN4):c.4003G>A (p.Glu1335Lys)	PLIN4 (E1335K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469560	NM_001367868.2(PLIN4):c.3998G>A (p.Ser1333Asn)	PLIN4 (S1333N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353815	NM_001367868.2(PLIN4):c.3967G>A (p.Glu1323Lys)	PLIN4 (E1324K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3420843	NM_001367868.2(PLIN4):c.3946G>A (p.Val1316Met)	PLIN4 (V1316M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207719	NM_001367868.2(PLIN4):c.3935T>A (p.Leu1312His)	PLIN4 (L1313H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482432	NM_001367868.2(PLIN4):c.3932A>C (p.Glu1311Ala)	PLIN4 (E1312A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215284	NM_001367868.2(PLIN4):c.3919C>T (p.His1307Tyr)	PLIN4 (H1307Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215283	NM_001367868.2(PLIN4):c.3917G>A (p.Arg1306Gln)	PLIN4 (R1306Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617395	NM_001367868.2(PLIN4):c.3913G>A (p.Ala1305Thr)	PLIN4 (A1306T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374995	NM_001367868.2(PLIN4):c.3910C>T (p.Arg1304Trp)	PLIN4 (R1304W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215282	NM_001367868.2(PLIN4):c.3886G>C (p.Ala1296Pro)	PLIN4 (A1296P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279708	NM_001367868.2(PLIN4):c.3878G>A (p.Gly1293Asp)	PLIN4 (G1294D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3420853	NM_001367868.2(PLIN4):c.3853A>G (p.Ser1285Gly)	PLIN4 (S1285G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215280	NM_001367868.2(PLIN4):c.3850T>G (p.Tyr1284Asp)	PLIN4 (Y1284D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342824	NM_001367868.2(PLIN4):c.3832C>T (p.Arg1278Trp)	PLIN4 (R1278W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525216	NM_001367868.2(PLIN4):c.3829C>T (p.Leu1277Phe)	PLIN4 (L1278F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3420835	NM_001367868.2(PLIN4):c.3809T>G (p.Leu1270Arg)	PLIN4 (L1271R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393939	NM_001367868.2(PLIN4):c.3767C>T (p.Ala1256Val)	PLIN4 (A1256V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2540985	NM_001367868.2(PLIN4):c.3706G>A (p.Glu1236Lys)	PLIN4 (E1236K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359851	NM_001367868.2(PLIN4):c.3647A>C (p.His1216Pro)	PLIN4 (H1216P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518428	NM_001367868.2(PLIN4):c.3629C>T (p.Ala1210Val)	PLIN4 (A1211V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391328	NM_001367868.2(PLIN4):c.3623A>G (p.Glu1208Gly)	PLIN4 (E1208G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353541	NM_001367868.2(PLIN4):c.3614G>A (p.Arg1205Gln)	PLIN4 (R1205Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3420830	NM_001367868.2(PLIN4):c.3608G>A (p.Arg1203His)	PLIN4 (R1204H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307758	NM_001367868.2(PLIN4):c.3577G>C (p.Val1193Leu)	PLIN4 (V1193L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215279	NM_001367868.2(PLIN4):c.3563A>G (p.Gln1188Arg)	PLIN4 (Q1188R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282021	NM_001367868.2(PLIN4):c.3554C>T (p.Ser1185Leu)	PLIN4 (S1186L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328049	NM_001367868.2(PLIN4):c.3550C>G (p.Leu1184Val)	PLIN4 (L1184V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3420837	NM_001367868.2(PLIN4):c.3539G>A (p.Gly1180Glu)	PLIN4 (G1181E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214780	NM_001367868.2(PLIN4):c.3538G>A (p.Gly1180Arg)	PLIN4 (G1181R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215278	NM_001367868.2(PLIN4):c.3493C>A (p.Pro1165Thr)	PLIN4 (P1165T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311118	NM_001367868.2(PLIN4):c.3478G>A (p.Gly1160Arg)	PLIN4 (G1160R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510615	NM_001367868.2(PLIN4):c.3443G>A (p.Arg1148His)	PLIN4 (R1149H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548806	NM_001367868.2(PLIN4):c.3430G>A (p.Glu1144Lys)	PLIN4 (E1144K +1 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 3420831	NM_001367868.2(PLIN4):c.3358G>A (p.Val1120Met)	PLIN4 (V1120M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3420856	NM_001367868.2(PLIN4):c.3353C>T (p.Thr1118Ile)	PLIN4 (T1119I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307764	NM_001367868.2(PLIN4):c.3292G>A (p.Val1098Met)	PLIN4 (V1098M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3420832	NM_001367868.2(PLIN4):c.3281C>T (p.Thr1094Met)	PLIN4 (T1094M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243747	NM_001367868.2(PLIN4):c.3263C>T (p.Pro1088Leu)	PLIN4 (P1089L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2492251	NM_001367868.2(PLIN4):c.3247A>G (p.Ser1083Gly)	PLIN4 (S1083G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3420859	NM_001367868.2(PLIN4):c.3218C>T (p.Thr1073Ile)	PLIN4 (T1073I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215277	NM_001367868.2(PLIN4):c.3207T>A (p.Ser1069Arg)	PLIN4 (S1070R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217855	NM_001367868.2(PLIN4):c.3196G>A (p.Gly1066Arg)	PLIN4 (G1066R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402831	NM_001367868.2(PLIN4):c.3181G>A (p.Ala1061Thr)	PLIN4 (A1061T +1 more)	Single nucleotide variant (missense variant)	not specified	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 3215276	NM_001367868.2(PLIN4):c.3172A>G (p.Ser1058Gly)	PLIN4 (S1058G +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3307755	NM_001367868.2(PLIN4):c.3170C>T (p.Pro1057Leu)	PLIN4 (P1057L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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)	not specified	GUncertain significance
Select item 2480731	NM_001367868.2(PLIN4):c.3089T>C (p.Val1030Ala)	PLIN4 (V1030A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2527464	NM_001367868.2(PLIN4):c.3086C>A (p.Ala1029Glu)	PLIN4 (A1029E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457827	NM_001367868.2(PLIN4):c.3073G>A (p.Gly1025Arg)	PLIN4 (G1025R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3420833	NM_001367868.2(PLIN4):c.3039G>C (p.Gln1013His)	PLIN4 (Q1014H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554586	NM_001367868.2(PLIN4):c.3028G>T (p.Gly1010Trp)	PLIN4 (G1011W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311421	NM_001367868.2(PLIN4):c.3008G>A (p.Gly1003Asp)	PLIN4 (G1003D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526490	NM_001367868.2(PLIN4):c.3004A>T (p.Thr1002Ser)	PLIN4 (T1002S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215275	NM_001367868.2(PLIN4):c.3001G>A (p.Val1001Ile)	PLIN4 (V1002I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3420823	NM_001367868.2(PLIN4):c.2972T>C (p.Met991Thr)	PLIN4 (M991T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2613761	NM_001367868.2(PLIN4):c.2935G>A (p.Val979Met)	PLIN4 (V980M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3420854	NM_001367868.2(PLIN4):c.2915T>C (p.Val972Ala)	PLIN4 (V972A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385061	NM_001367868.2(PLIN4):c.2836G>A (p.Val946Ile)	PLIN4 (V946I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3388754	NM_001367868.2(PLIN4):c.2818A>C (p.Asn940His)	PLIN4 (N940H +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2374301	NM_001367868.2(PLIN4):c.2815G>A (p.Val939Ile)	PLIN4 (V939I +1 more)	Single nucleotide variant (missense variant)	not specified	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)	not specified	GUncertain significance
Select item 2219054	NM_001367868.2(PLIN4):c.2722T>G (p.Leu908Val)	PLIN4 (L909V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2597683	NM_001367868.2(PLIN4):c.2672T>C (p.Leu891Pro)	PLIN4 (L892P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355827	NM_001367868.2(PLIN4):c.2618C>T (p.Ala873Val)	PLIN4 (A873V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3215274	NM_001367868.2(PLIN4):c.2572G>T (p.Ala858Ser)	PLIN4 (A858S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521215	NM_001367868.2(PLIN4):c.2572G>A (p.Ala858Thr)	PLIN4 (A859T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3420824	NM_001367868.2(PLIN4):c.2569A>G (p.Ile857Val)	PLIN4 (I857V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2344421	NM_001367868.2(PLIN4):c.2563C>A (p.Gln855Lys)	PLIN4 (Q855K +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3420818	NM_001367868.2(PLIN4):c.2558C>T (p.Thr853Met)	PLIN4 (T853M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215273	NM_001367868.2(PLIN4):c.2556A>C (p.Lys852Asn)	PLIN4 (K852N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389500	NM_001367868.2(PLIN4):c.2494G>A (p.Val832Ile)	PLIN4 (V832I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604882	NM_001367868.2(PLIN4):c.2489A>G (p.Asp830Gly)	PLIN4 (D830G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550179	NM_001367868.2(PLIN4):c.2459C>T (p.Thr820Met)	PLIN4 (T821M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3420851	NM_001367868.2(PLIN4):c.2449G>T (p.Gly817Cys)	PLIN4 (G818C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307765	NM_001367868.2(PLIN4):c.2449G>A (p.Gly817Ser)	PLIN4 (G817S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3420838	NM_001367868.2(PLIN4):c.2416G>A (p.Ala806Thr)	PLIN4 (A807T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215272	NM_001367868.2(PLIN4):c.2401A>C (p.Ser801Arg)	PLIN4 (S802R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341068	NM_001367868.2(PLIN4):c.2360C>A (p.Thr787Asn)	PLIN4 (T787N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215271	NM_001367868.2(PLIN4):c.2359A>C (p.Thr787Pro)	PLIN4 (T787P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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