8943[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 57357	GRCh38/hg38 19p13.3(chr19:259395-2555149)x3	ABCA7, ABHD17A +429 more	Copy number gain	See cases	GPathogenic
Select item 145542	GRCh38/hg38 19p13.3(chr19:421537-2897921)x3	ABCA7, ABHD17A +453 more	Copy number gain	See cases	GLikely pathogenic
Select item 147726	GRCh38/hg38 19p13.3(chr19:1351163-2555149)x3	ABHD17A, ADAMTSL5 +219 more	Copy number gain	See cases	GUncertain significance
Select item 145414	GRCh38/hg38 19p13.3(chr19:1549144-4288720)x1	ABHD17A, ADAT3 +387 more	Copy number loss	See cases	GPathogenic
Select item 59081	GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3	ABHD17A, ADAT3 +362 more	Copy number gain	See cases	GPathogenic
Select item 60069	GRCh38/hg38 19p13.3(chr19:1727562-2306496)x1	ABHD17A, ADAT3 +108 more	Copy number loss	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 3340975	NM_001261826.3(AP3D1):c.*145C>T	AP3D1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1448525	NM_001261826.3(AP3D1):c.3640A>G (p.Lys1214Glu)	AP3D1 (K1202E +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1440018	NM_001261826.3(AP3D1):c.3637G>A (p.Ala1213Thr)	AP3D1 (A1201T +2 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 10 +1 more	GUncertain significance
Select item 1663075	NM_001261826.3(AP3D1):c.3634C>T (p.Leu1212=)	AP3D1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1432090	NM_001261826.3(AP3D1):c.3633G>A (p.Thr1211=)	AP3D1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2894027	NM_001261826.3(AP3D1):c.3632C>T (p.Thr1211Met)	AP3D1 (T1149M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1978054	NM_001261826.3(AP3D1):c.3629C>T (p.Ala1210Val)	AP3D1 (A1198V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1999466	NM_001261826.3(AP3D1):c.3627G>A (p.Lys1209=)	AP3D1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2162097	NM_001261826.3(AP3D1):c.3622A>G (p.Met1208Val)	AP3D1 (M1146V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2054030	NM_001261826.3(AP3D1):c.3621G>A (p.Glu1207=)	AP3D1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2699542	NM_001261826.3(AP3D1):c.3616G>A (p.Glu1206Lys)	AP3D1 (E1144K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1563317	NM_001261826.3(AP3D1):c.3615A>G (p.Leu1205=)	AP3D1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1493936	NM_001261826.3(AP3D1):c.3605G>C (p.Ser1202Thr)	AP3D1 (S1202T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1656620	NM_001261826.3(AP3D1):c.3597G>A (p.Thr1199=)	AP3D1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1343530	NM_001261826.3(AP3D1):c.3596C>T (p.Thr1199Met)	AP3D1 (T1137M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1665546	NM_001261826.3(AP3D1):c.3576C>T (p.Asp1192=)	AP3D1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1383484	NM_001261826.3(AP3D1):c.3574G>A (p.Asp1192Asn)	AP3D1 (D1180N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2414563	NM_001261826.3(AP3D1):c.3573C>T (p.Val1191=)	AP3D1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 253144	NM_001261826.3(AP3D1):c.3565_3566del (p.Val1189fs)	AP3D1 (V1127fs +1 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 10	GPathogenic
Select item 1948203	NM_001261826.3(AP3D1):c.3563C>G (p.Ser1188Cys)	AP3D1 (S1176C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2821332	NM_001261826.3(AP3D1):c.3553-9C>G	AP3D1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2867790	NM_001261826.3(AP3D1):c.3553-12T>C	AP3D1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1629621	NM_001261826.3(AP3D1):c.3553-19A>G	AP3D1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1221081	NM_001261826.3(AP3D1):c.3553-243G>C	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272609	NM_001261826.3(AP3D1):c.3553-276C>G	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2976671	NM_001261826.3(AP3D1):c.3552+9C>T	AP3D1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1910877	NM_001261826.3(AP3D1):c.3540C>T (p.Leu1180=)	AP3D1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2849160	NM_001261826.3(AP3D1):c.3536G>A (p.Cys1179Tyr)	AP3D1 (C1167Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2737557	NM_001261826.3(AP3D1):c.3534C>T (p.Val1178=)	AP3D1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1963006	NM_001261826.3(AP3D1):c.3532G>A (p.Val1178Ile)	AP3D1 (V1116I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2834927	NM_001261826.3(AP3D1):c.3525C>A (p.Gly1175=)	AP3D1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980560	NM_001261826.3(AP3D1):c.3523G>C (p.Gly1175Arg)	AP3D1 (G1163R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2070318	NM_001261826.3(AP3D1):c.3521A>G (p.Gln1174Arg)	AP3D1 (Q1112R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1448050	NM_001261826.3(AP3D1):c.3511C>T (p.Arg1171Cys)	AP3D1 (R1109C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1979277	NM_001261826.3(AP3D1):c.3507C>T (p.Tyr1169=)	AP3D1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2308996	NM_001261826.3(AP3D1):c.3504G>T (p.Met1168Ile)	AP3D1 (M1156I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1284813	NM_001261826.3(AP3D1):c.3498C>T (p.Ala1166=)	AP3D1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1926158	NM_001261826.3(AP3D1):c.3495C>T (p.Cys1165=)	AP3D1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1507429	NM_001261826.3(AP3D1):c.3493T>G (p.Cys1165Gly)	AP3D1 (C1103G +2 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 10 +2 more	GUncertain significance
Select item 2113219	NM_001261826.3(AP3D1):c.3490T>C (p.Ser1164Pro)	AP3D1 (S1164P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1608516	NM_001261826.3(AP3D1):c.3486G>A (p.Val1162=)	AP3D1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2176633	NM_001261826.3(AP3D1):c.3482G>A (p.Arg1161Gln)	AP3D1 (R1099Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1625143	NM_001261826.3(AP3D1):c.3474T>C (p.Val1158=)	AP3D1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1938193	NM_001261826.3(AP3D1):c.3473-9C>T	AP3D1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1636757	NM_001261826.3(AP3D1):c.3473-12G>A	AP3D1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1546567	NM_001261826.3(AP3D1):c.3473-13C>T	AP3D1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183770	NM_001261826.3(AP3D1):c.3472+156G>T	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275030	NM_001261826.3(AP3D1):c.3472+66A>G	AP3D1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1907492	NM_001261826.3(AP3D1):c.3472+20G>A	AP3D1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971984	NM_001261826.3(AP3D1):c.3472+18C>G	AP3D1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1168561	NM_001261826.3(AP3D1):c.3472+14G>A	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2877540	NM_001261826.3(AP3D1):c.3472+11T>C	AP3D1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1655627	NM_001261826.3(AP3D1):c.3472+7A>C	AP3D1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1951454	NM_001261826.3(AP3D1):c.3472G>C (p.Val1158Leu)	AP3D1 (V1146L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1580212	NM_001261826.3(AP3D1):c.3472G>A (p.Val1158Ile)	AP3D1 (V1096I +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1940820	NM_001261826.3(AP3D1):c.3471C>T (p.Ser1157=)	AP3D1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3047390	NM_001261826.3(AP3D1):c.3462C>T (p.His1154=)	AP3D1	Single nucleotide variant (synonymous variant)	AP3D1-related disorder	GLikely benign
Select item 3008815	NM_001261826.3(AP3D1):c.3456T>C (p.Phe1152=)	AP3D1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2080034	NM_001261826.3(AP3D1):c.3450C>G (p.Ile1150Met)	AP3D1 (I1088M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1570314	NM_001261826.3(AP3D1):c.3444G>A (p.Ala1148=)	AP3D1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 808420	NM_001261826.3(AP3D1):c.3443C>T (p.Ala1148Val)	AP3D1 (A1148V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2672732	NM_001261826.3(AP3D1):c.3441G>C (p.Leu1147=)	AP3D1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2789075	NM_001261826.3(AP3D1):c.3436C>T (p.Leu1146Phe)	AP3D1 (L1084F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 790197	NM_001261826.3(AP3D1):c.3435T>A (p.Asn1145Lys)	AP3D1 (N1145K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1444782	NM_001261826.3(AP3D1):c.3430C>G (p.Gln1144Glu)	AP3D1 (Q1144E +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2981017	NM_001261826.3(AP3D1):c.3419G>A (p.Arg1140Gln)	AP3D1 (R1140Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2186496	NM_001261826.3(AP3D1):c.3409G>A (p.Asp1137Asn)	AP3D1 (D1075N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1591421	NM_001261826.3(AP3D1):c.3408C>G (p.Val1136=)	AP3D1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 790198	NM_001261826.3(AP3D1):c.3408C>T (p.Val1136=)	AP3D1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1379922	NM_001261826.3(AP3D1):c.3404A>C (p.Lys1135Thr)	AP3D1 (K1073T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2775958	NM_001261826.3(AP3D1):c.3402C>G (p.Ile1134Met)	AP3D1 (I1122M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1166875	NM_001261826.3(AP3D1):c.3400A>G (p.Ile1134Val)	AP3D1 (I1072V +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1023191	NM_001261826.3(AP3D1):c.3400A>C (p.Ile1134Leu)	AP3D1 (I1072L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2100255	NM_001261826.3(AP3D1):c.3387G>C (p.Leu1129Phe)	AP3D1 (L1117F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1466070	NM_001261826.3(AP3D1):c.3386T>C (p.Leu1129Ser)	AP3D1 (L1129S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1461688	NM_001261826.3(AP3D1):c.3384C>G (p.Asp1128Glu)	AP3D1 (D1066E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2795632	NM_001261826.3(AP3D1):c.3367T>C (p.Leu1123=)	AP3D1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1610160	NM_001261826.3(AP3D1):c.3363T>A (p.Ala1121=)	AP3D1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1372673	NM_001261826.3(AP3D1):c.3356C>G (p.Ala1119Gly)	AP3D1 (A1057G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1928089	NM_001261826.3(AP3D1):c.3355G>A (p.Ala1119Thr)	AP3D1 (A1107T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1636753	NM_001261826.3(AP3D1):c.3354C>T (p.Asp1118=)	AP3D1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2111358	NM_001261826.3(AP3D1):c.3351-4A>G	AP3D1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978828	NM_001261826.3(AP3D1):c.3351-14T>C	AP3D1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1241065	NM_001261826.3(AP3D1):c.3351-274C>T	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287308	NM_001261826.3(AP3D1):c.3350+276A>G	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283947	NM_001261826.3(AP3D1):c.3350+205G>A	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178643	NM_001261826.3(AP3D1):c.3350+60C>G	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224817	NM_001261826.3(AP3D1):c.3350+38C>T	AP3D1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1916526	NM_001261826.3(AP3D1):c.3350+16A>T	AP3D1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2047251	NM_001261826.3(AP3D1):c.3350+14C>T	AP3D1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2129685	NM_001261826.3(AP3D1):c.3350+12G>A	AP3D1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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