"GeneDx"[submitter] AND "CAST"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58096	GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3	ATG10, ATP6AP1L +691 more	Copy number gain	See cases	GPathogenic
Select item 59664	GRCh38/hg38 5q14.3-21.2(chr5:89081352-104687248)x1	ADGRV1, ARB2A +275 more	Copy number loss	See cases	GPathogenic
Select item 59667	GRCh38/hg38 5q14.3-15(chr5:91386552-98365880)x1	ARB2A, ARRDC3-AS1 +147 more	Copy number loss	See cases	GPathogenic
Select item 354634	NM_000439.5(PCSK1):c.*265T>C	CAST, LOC101929710 +1 more	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 354639	NM_000439.5(PCSK1):c.2069G>C (p.Ser690Thr)	CAST, LOC101929710 +1 more (S690T +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 354640	NM_000439.5(PCSK1):c.1993C>G (p.Gln665Glu)	CAST, LOC101929710 +1 more (Q665E +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 1297896	NM_000439.5(PCSK1):c.1885-324C>T	CAST, LOC101929710 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222946	NM_000439.5(PCSK1):c.1884+107G>A	CAST, LOC101929710 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3369014	NM_000439.5(PCSK1):c.1778G>A (p.Gly593Glu)	CAST, LOC101929710 +1 more (G546E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 450068	NM_000439.5(PCSK1):c.1774C>A (p.His592Asn)	CAST, LOC101929710 +1 more (H592N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253179	NM_000439.5(PCSK1):c.1745G>A (p.Gly582Glu)	CAST, LOC101929710 +1 more (G535E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1261687	NM_000439.5(PCSK1):c.1723-153T>C	CAST, LOC101929710 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288669	NM_000439.5(PCSK1):c.1722+272T>A	CAST, LOC101929710 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265015	NM_000439.5(PCSK1):c.1722+54A>G	CAST, LOC101929710 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 450069	NM_000439.5(PCSK1):c.1625A>G (p.Asp542Gly)	CAST, LOC101929710 +1 more (D542G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 432315	NM_000439.5(PCSK1):c.1405G>A (p.Val469Ile)	CAST, LOC101929710 +1 more (V469I +1 more)	Single nucleotide variant (missense variant)	Obesity due to prohormone convertase I deficiency +1 more	GUncertain significance
Select item 431898	NM_000439.5(PCSK1):c.1387G>A (p.Glu463Lys)	CAST, LOC101929710 +1 more (E463K +1 more)	Single nucleotide variant (missense variant)	Body mass index quantitative trait locus 12 +2 more	GConflicting classifications of pathogenicity
Select item 2662474	NM_000439.5(PCSK1):c.1287T>A (p.Asn429Lys)	CAST, LOC101929710 +1 more (N382K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1314682	NM_000439.5(PCSK1):c.1214G>A (p.Arg405Gln)	PCSK1, CAST +1 more (R358Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1274818	NM_000439.5(PCSK1):c.1197-305C>T	CAST, LOC101929710 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228106	NM_000439.5(PCSK1):c.1196+219G>A	CAST, LOC101929710 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296037	NM_000439.5(PCSK1):c.1095+123A>C	CAST, LOC101929710 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251038	NM_000439.5(PCSK1):c.882+56_882+58del	CAST, LOC101929710 +1 more	Microsatellite (intron variant)	not provided	GBenign
Select item 1289489	NM_000439.5(PCSK1):c.709+219dup	CAST, LOC101929710 +1 more	Duplication (intron variant)	not provided	GBenign
Select item 1255162	NM_000439.5(PCSK1):c.709+188T>C	CAST, LOC101929710 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 14040	NM_000439.5(PCSK1):c.661A>G (p.Asn221Asp)	PCSK1, CAST +1 more (N221D +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 354651	NM_000439.5(PCSK1):c.612C>T (p.Asn204=)	CAST, LOC101929710 +1 more	Single nucleotide variant (synonymous variant)	Monogenic Non-Syndromic Obesity +2 more	GBenign/Likely benign
Select item 1275508	NM_000439.5(PCSK1):c.544-47_544-38del	CAST, LOC101929710 +1 more	Deletion (intron variant)	not provided	GBenign
Select item 1272018	NM_000439.5(PCSK1):c.544-45_544-38del	CAST, LOC101929710 +1 more	Deletion (intron variant)	not provided	GBenign
Select item 1248744	NM_000439.5(PCSK1):c.544-46_544-38del	CAST, LOC101929710 +1 more	Deletion (intron variant)	not provided	GBenign
Select item 1247891	NM_000439.5(PCSK1):c.544-39_544-38del	CAST, LOC101929710 +1 more	Deletion (intron variant)	not provided	GBenign
Select item 1242102	NM_000439.5(PCSK1):c.544-38del	CAST, LOC101929710 +1 more	Deletion (intron variant)	not provided	GBenign
Select item 1174378	NM_000439.5(PCSK1):c.544-40_544-38del	CAST, LOC101929710 +1 more	Deletion (intron variant)	not provided	GBenign
Select item 1183539	NM_000439.5(PCSK1):c.397-260G>A	LOC101929710, PCSK1 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283269	NM_000439.5(PCSK1):c.396+90_396+91del	CAST, LOC101929710 +1 more	Deletion (intron variant)	not provided	GBenign
Select item 1270981	NM_000439.5(PCSK1):c.396+91del	CAST, LOC101929710 +1 more	Deletion (intron variant)	not provided	GBenign
Select item 906974	NM_000439.5(PCSK1):c.375G>A (p.Met125Ile)	CAST, LOC101929710 +1 more (M125I +1 more)	Single nucleotide variant (missense variant)	Obesity due to prohormone convertase I deficiency +1 more	GUncertain significance
Select item 1271227	NM_000439.5(PCSK1):c.285+227G>A	CAST, LOC101929710 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1700948	NM_000439.5(PCSK1):c.280G>A (p.Asp94Asn)	CAST, LOC101929710 +1 more (D47N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1268966	NM_000439.5(PCSK1):c.181-58A>C	CAST, LOC101929710 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263807	NM_000439.5(PCSK1):c.181-305T>C	CAST, LOC101929710 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225559	NM_000439.5(PCSK1):c.181-351G>A	CAST, LOC101929710 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239460	NM_000439.5(PCSK1):c.180+864G>A	CAST, LOC101929710 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 430133	NM_000439.5(PCSK1):c.180+757A>G	PCSK1, CAST +1 more (I6V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1279973	NM_000439.5(PCSK1):c.180+647A>G	CAST, LOC101929710 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 354656	NM_000439.5(PCSK1):c.-101T>C	CAST, LOC101929710 +1 more	Single nucleotide variant (5 prime UTR variant)	Monogenic Non-Syndromic Obesity +2 more	GBenign/Likely benign
Select item 58098	GRCh38/hg38 5q15-22.3(chr5:96454445-114050905)x3	TSSK1B, WDR36 +275 more	Copy number gain	See cases	GPathogenic
Select item 1289047	NC_000005.10:g.96661874_96661875insCAGA	CAST	Insertion	not provided	GBenign
Select item 1274367	NM_001750.7(CAST):c.75+165_75+166insAGCAGGTGGCTGCAGGTGGC	CAST	Insertion (intron variant)	not provided	GBenign
Select item 1247631	NM_001750.7(CAST):c.75+157GCAGGTGGCT[3]	CAST	Microsatellite (intron variant)	not provided	GBenign
Select item 1247873	NM_001750.7(CAST):c.75+190C>T	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264856	NM_001750.7(CAST):c.75+271G>A	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229291	NM_001750.7(CAST):c.76-220T>C	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178477	NM_001750.7(CAST):c.139-254A>G	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192696	NM_001750.7(CAST):c.168A>G (p.Gln56=)	CAST	Single nucleotide variant (synonymous variant +1 more)	Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome +1 more	GBenign
Select item 1282014	NM_001750.7(CAST):c.210+216G>T	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270998	NM_001750.7(CAST):c.270+237TTGTT[6]	CAST	Microsatellite (intron variant)	not provided	GBenign
Select item 1287556	NM_001750.7(CAST):c.336+54C>T	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260567	NM_001750.7(CAST):c.337-236T>C	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261635	NM_001750.7(CAST):c.378+268A>G	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296751	NM_001750.7(CAST):c.379-224A>C	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251790	NM_001750.7(CAST):c.379-142A>T	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2581758	NM_001750.7(CAST):c.454C>T (p.Gln152Ter)	CAST (Q111* +10 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1286199	NM_001750.7(CAST):c.549+207A>G	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266031	NM_001750.7(CAST):c.549+233C>T	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266274	NM_001750.7(CAST):c.550-118C>A	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239484	NM_001750.7(CAST):c.630+12C>G	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264261	NM_001750.7(CAST):c.630+88C>T	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277198	NM_001750.7(CAST):c.631-96A>G	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220977	NM_001750.7(CAST):c.631-35A>G	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231098	NM_001750.7(CAST):c.699+213A>T	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177939	NM_001750.7(CAST):c.699+219AAAC[2]	CAST	Microsatellite (intron variant)	not provided	GBenign
Select item 1274351	NM_001750.7(CAST):c.918G>A (p.Ser306=)	CAST	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1241904	NM_001750.7(CAST):c.1099-50G>A	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221320	NM_001750.7(CAST):c.1099-22C>G	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286778	NM_001750.7(CAST):c.1200+82C>T	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266205	NM_001750.7(CAST):c.1200+242A>G	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244512	NM_001750.7(CAST):c.1201-221G>T	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 791137	NM_001750.7(CAST):c.1207G>C (p.Ala403Pro)	CAST (A266P +16 more)	Single nucleotide variant (missense variant +1 more)	Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome +1 more	GBenign
Select item 1249890	NM_001750.7(CAST):c.1284+272C>T	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245681	NM_001750.7(CAST):c.1332+242C>T	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231572	NM_001750.7(CAST):c.1332+246A>T	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284102	NM_001750.7(CAST):c.1428+114G>A	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192697	NM_001750.7(CAST):c.1472G>C (p.Cys491Ser)	CAST (C336S +16 more)	Single nucleotide variant (missense variant +1 more)	Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome +1 more	GBenign
Select item 1252380	NM_001750.7(CAST):c.1524+232C>G	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266334	NM_001750.7(CAST):c.1525-253C>T	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282797	NM_001750.7(CAST):c.1525-125C>G	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192698	NM_001750.7(CAST):c.1525-106G>A	CAST	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1267377	NM_001750.7(CAST):c.1525-45G>A	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182630	NM_001750.7(CAST):c.1626+111A>G	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258514	NM_001750.7(CAST):c.1711-158A>G	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290800	NM_001750.7(CAST):c.1711-137C>T	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247991	NM_001750.7(CAST):c.1711-10C>T	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239061	NM_001750.7(CAST):c.1761+24G>A	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227939	NM_001750.7(CAST):c.1833+31T>C	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264424	NM_001750.7(CAST):c.1833+83C>T	CAST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241023	NM_001750.7(CAST):c.1834-130T>C	CAST, ERAP1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1270230	NM_001750.7(CAST):c.1834-83T>G	CAST, ERAP1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1242577	NM_001750.7(CAST):c.1932+68G>A	CAST, ERAP1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1179486	NM_001750.7(CAST):c.1932+138G>A	CAST, ERAP1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign

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