C5190825[trait identifier] AND "Labcorp Genetics (formerly Invitae), L - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 273

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 471935	NM_001492.6(GDF1):c.1044CTT[1] (p.Phe350del)	CERS1, GDF1 (F350del)	Microsatellite (3 prime UTR variant +1 more)	Visceral heterotaxy +1 more	GUncertain significance
Select item 705802	NM_021267.5(CERS1):c.*1298G>A	CERS1, GDF1	Single nucleotide variant (3 prime UTR variant +1 more)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 220404	NM_001492.6(GDF1):c.925T>C (p.Ser309Pro)	CERS1, GDF1 (S309P)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1571581	NM_021267.5(CERS1):c.*773G>A	CERS1, GDF1	Single nucleotide variant (3 prime UTR variant +1 more)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 215496	NM_001492.6(GDF1):c.456GGC[6] (p.Ala158_Pro159insAla)	CERS1, GDF1	Microsatellite (3 prime UTR variant +1 more)	Visceral heterotaxy +3 more	GBenign
Select item 1148193	NM_021267.5(CERS1):c.1035G>A (p.Val345=)	CERS1, GDF1	Single nucleotide variant (synonymous variant +1 more)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 1119694	NM_021267.5(CERS1):c.1032G>A (p.Leu344=)	CERS1, GDF1	Single nucleotide variant (synonymous variant +1 more)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 1367221	NM_021267.5(CERS1):c.1030C>G (p.Leu344Val)	CERS1, GDF1 (L344V)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy type 8	GUncertain significance
Select item 475367	NM_021267.5(CERS1):c.1018C>G (p.Leu340Val)	CERS1, GDF1 (L340V)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy type 8	GUncertain significance
Select item 542131	NM_021267.5(CERS1):c.1011-2A>G	CERS1, GDF1	Single nucleotide variant (splice acceptor variant)	Progressive myoclonic epilepsy type 8	GUncertain significance
Select item 2097110	NM_021267.5(CERS1):c.1011-4C>G	CERS1, GDF1	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 1151992	NM_021267.5(CERS1):c.1011-4C>T	CERS1, GDF1	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 2809262	NM_021267.5(CERS1):c.1011-5C>T	CERS1, GDF1	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 1639421	NM_021267.5(CERS1):c.1011-8del	CERS1, GDF1	Deletion (intron variant)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 1658671	NM_021267.5(CERS1):c.1011-16C>T	GDF1, CERS1	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 1588087	NM_021267.5(CERS1):c.1010+19G>A	CERS1, GDF1	Single nucleotide variant (3 prime UTR variant +1 more)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 1584359	NM_021267.5(CERS1):c.1010+18C>T	CERS1, GDF1	Single nucleotide variant (3 prime UTR variant +1 more)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 1462107	NM_021267.5(CERS1):c.1009G>C (p.Glu337Gln)	CERS1, GDF1 (E322Q +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy type 8	GUncertain significance
Select item 1572196	NM_021267.5(CERS1):c.1008C>T (p.Ala336=)	CERS1, GDF1	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 1540181	NM_021267.5(CERS1):c.999C>T (p.Pro333=)	CERS1, GDF1	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 2769503	NM_021267.5(CERS1):c.996G>A (p.Lys332=)	CERS1, GDF1	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 1620964	NM_021267.5(CERS1):c.990C>T (p.Ser330=)	CERS1, GDF1	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 642064	NM_021267.5(CERS1):c.989G>T (p.Ser330Ile)	CERS1, GDF1 (S232I +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy type 8	GUncertain significance
Select item 2094037	NM_021267.5(CERS1):c.984C>G (p.Ala328=)	CERS1, GDF1	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 1920009	NM_021267.5(CERS1):c.978C>T (p.Ala326=)	CERS1, GDF1	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 1571077	NM_021267.5(CERS1):c.978C>A (p.Ala326=)	CERS1, GDF1	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 1441864	NM_021267.5(CERS1):c.974C>T (p.Thr325Ile)	CERS1, GDF1 (T227I +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy type 8	GUncertain significance
Select item 1036000	NM_021267.5(CERS1):c.962G>A (p.Arg321Gln)	CERS1, GDF1 (R306Q +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy type 8	GUncertain significance
Select item 1355531	NM_021267.5(CERS1):c.961C>T (p.Arg321Trp)	CERS1, GDF1 (R306W +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy type 8	GUncertain significance
Select item 1159657	NM_021267.5(CERS1):c.958C>T (p.Leu320=)	CERS1, GDF1	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 1438205	NM_021267.5(CERS1):c.955G>A (p.Asp319Asn)	CERS1, GDF1 (D221N +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy type 8	GUncertain significance
Select item 2201168	NM_021267.5(CERS1):c.951G>A (p.Leu317=)	CERS1, GDF1	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 1568628	NM_021267.5(CERS1):c.945C>T (p.His315=)	CERS1, GDF1	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 943499	NM_021267.5(CERS1):c.945C>G (p.His315Gln)	CERS1, GDF1 (H315Q +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy type 8	GUncertain significance
Select item 1153599	NM_021267.5(CERS1):c.942G>A (p.Val314=)	CERS1, GDF1	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 2918190	NM_021267.5(CERS1):c.940G>T (p.Val314Leu)	CERS1, GDF1 (V299L +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy type 8	GUncertain significance
Select item 755559	NM_021267.5(CERS1):c.912G>A (p.Ala304=)	CERS1, GDF1	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 1402617	NM_021267.5(CERS1):c.911C>T (p.Ala304Val)	CERS1, GDF1 (A289V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 475379	NM_021267.5(CERS1):c.906C>T (p.Ile302=)	CERS1, GDF1	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 956495	NM_021267.5(CERS1):c.903C>A (p.Tyr301Ter)	CERS1, GDF1 (Y203* +2 more)	Single nucleotide variant (nonsense +2 more)	Progressive myoclonic epilepsy type 8	GUncertain significance
Select item 542132	NM_021267.5(CERS1):c.901-3C>A	CERS1, GDF1	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 8	GUncertain significance
Select item 1132190	NM_021267.5(CERS1):c.901-4G>A	CERS1, GDF1	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 1491332	NM_021267.5(CERS1):c.901-6T>A	CERS1, GDF1	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 2710790	NM_021267.5(CERS1):c.901-8T>C	CERS1, GDF1	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 137456	NM_001492.6(GDF1):c.-422-11C>T	CERS1, GDF1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 2966051	NM_021267.5(CERS1):c.901-17C>G	CERS1, GDF1	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 1608703	NM_021267.5(CERS1):c.900+20C>T	CERS1, GDF1	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 2754682	NM_021267.5(CERS1):c.900+14G>A	GDF1, CERS1	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 2742076	NM_021267.5(CERS1):c.900+13C>T	CERS1, GDF1	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 2083695	NM_021267.5(CERS1):c.900+11C>T	CERS1, GDF1	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 717275	NM_021267.5(CERS1):c.900+8G>A	CERS1, GDF1	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 2183589	NM_021267.5(CERS1):c.900+7C>T	CERS1, GDF1	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 475378	NM_021267.5(CERS1):c.898C>T (p.Leu300=)	CERS1, GDF1	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy type 8 +1 more	GLikely benign
Select item 796400	NM_021267.5(CERS1):c.876C>G (p.Thr292=)	CERS1, GDF1	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 1107740	NM_021267.5(CERS1):c.873C>G (p.Leu291=)	CERS1, GDF1	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 475377	NM_021267.5(CERS1):c.857C>T (p.Ala286Val)	CERS1, GDF1 (A286V +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy type 8 +1 more	GUncertain significance
Select item 576500	NM_021267.5(CERS1):c.851T>C (p.Phe284Ser)	CERS1, GDF1 (F284S +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy type 8	GUncertain significance
Select item 2199313	NM_021267.5(CERS1):c.846C>T (p.Phe282=)	CERS1, GDF1	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 1402746	NM_021267.5(CERS1):c.845T>A (p.Phe282Tyr)	CERS1, GDF1 (F282Y +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy type 8 +1 more	GUncertain significance
Select item 2082073	NM_021267.5(CERS1):c.840C>T (p.Phe280=)	GDF1, CERS1	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 663158	NM_021267.5(CERS1):c.836C>G (p.Pro279Arg)	CERS1, GDF1 (P181R +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy type 8	GUncertain significance
Select item 1445214	NM_021267.5(CERS1):c.835C>A (p.Pro279Thr)	CERS1, GDF1 (P181T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 1027071	NM_021267.5(CERS1):c.835C>G (p.Pro279Ala)	CERS1, GDF1 (P181A +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy type 8	GUncertain significance
Select item 542134	NM_021267.5(CERS1):c.834C>T (p.Ile278=)	CERS1, GDF1	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 1387459	NM_021267.5(CERS1):c.830A>C (p.Asp277Ala)	CERS1, GDF1 (D262A +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy type 8	GUncertain significance
Select item 1036463	NM_021267.5(CERS1):c.821C>T (p.Thr274Met)	CERS1, GDF1 (T259M +2 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 1017566	NM_021267.5(CERS1):c.818G>A (p.Arg273His)	CERS1, GDF1 (R175H +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy type 8	GUncertain significance
Select item 1483773	NM_021267.5(CERS1):c.817C>T (p.Arg273Cys)	CERS1, GDF1 (R175C +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy type 8	GUncertain significance
Select item 1554347	NM_021267.5(CERS1):c.816G>A (p.Leu272=)	CERS1, GDF1	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 1917315	NM_021267.5(CERS1):c.805C>T (p.His269Tyr)	CERS1, GDF1 (H171Y +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy type 8	GUncertain significance
Select item 1562609	NM_021267.5(CERS1):c.798C>T (p.Ala266=)	CERS1, GDF1	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 1416704	NM_021267.5(CERS1):c.797C>T (p.Ala266Val)	CERS1, GDF1 (A251V +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy type 8 +1 more	GUncertain significance
Select item 1533598	NM_021267.5(CERS1):c.790C>T (p.Leu264=)	CERS1, GDF1	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 475376	NM_021267.5(CERS1):c.787G>A (p.Val263Ile)	CERS1, GDF1 (V263I +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 1355269	NM_021267.5(CERS1):c.785A>G (p.Lys262Arg)	CERS1, GDF1 (K247R +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy type 8	GUncertain significance
Select item 1595818	NM_021267.5(CERS1):c.780G>T (p.Pro260=)	CERS1, GDF1	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 1534964	NM_021267.5(CERS1):c.780G>A (p.Pro260=)	CERS1, GDF1	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 943251	NM_021267.5(CERS1):c.779C>T (p.Pro260Leu)	CERS1, GDF1 (P260L +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy type 8	GUncertain significance
Select item 1593399	NM_021267.5(CERS1):c.768C>A (p.Leu256=)	CERS1, GDF1	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 801420	NM_021267.5(CERS1):c.763C>T (p.Arg255Cys)	CERS1, GDF1 (R157C +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy type 8	GConflicting classifications of pathogenicity
Select item 2093063	NM_021267.5(CERS1):c.753-3C>A	CERS1, GDF1	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 8	GUncertain significance
Select item 1961354	NM_021267.5(CERS1):c.753-4G>A	CERS1, GDF1	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 2994224	NM_021267.5(CERS1):c.753-17G>A	CERS1, GDF1	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 1966947	NM_021267.5(CERS1):c.753-18T>G	CERS1, GDF1	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 712246	NM_021267.5(CERS1):c.752+9T>C	CERS1, GDF1	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 1154753	NM_021267.5(CERS1):c.750C>T (p.Ser250=)	CERS1, GDF1	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 568282	NM_021267.5(CERS1):c.742G>A (p.Gly248Ser)	GDF1, CERS1 (G248S +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy type 8	GUncertain significance
Select item 1024152	NM_021267.5(CERS1):c.738C>G (p.Ser246Arg)	CERS1, GDF1 (S148R +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy type 8	GUncertain significance
Select item 1585756	NM_021267.5(CERS1):c.732C>T (p.Cys244=)	CERS1, GDF1	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 1487462	NM_021267.5(CERS1):c.725T>C (p.Leu242Ser)	CERS1, GDF1 (L144S +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy type 8	GUncertain significance
Select item 1622905	NM_021267.5(CERS1):c.717A>G (p.Ala239=)	CERS1, GDF1	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 1363274	NM_021267.5(CERS1):c.715_716delinsTT (p.Ala239Leu)	GDF1, CERS1 (A141L +2 more)	Indel (missense variant +2 more)	Progressive myoclonic epilepsy type 8	GUncertain significance
Select item 1385162	NM_021267.5(CERS1):c.709G>T (p.Ala237Ser)	CERS1, GDF1 (A222S +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy type 8	GUncertain significance
Select item 1046336	NM_021267.5(CERS1):c.709G>A (p.Ala237Thr)	CERS1, GDF1 (A237T +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy type 8	GUncertain significance
Select item 542126	NM_021267.5(CERS1):c.708T>A (p.His236Gln)	CERS1, GDF1 (H236Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 1116660	NM_021267.5(CERS1):c.702G>A (p.Arg234=)	CERS1, GDF1	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy type 8	GLikely benign
Select item 1009837	NM_021267.5(CERS1):c.701G>T (p.Arg234Leu)	GDF1, CERS1 (R136L +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy type 8	GUncertain significance
Select item 861075	NM_021267.5(CERS1):c.701G>A (p.Arg234Gln)	GDF1, CERS1 (R136Q +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy type 8 +1 more	GUncertain significance
Select item 1371651	NM_021267.5(CERS1):c.700C>G (p.Arg234Gly)	CERS1, GDF1 (R219G +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy type 8	GUncertain significance
Select item 1482369	NM_021267.5(CERS1):c.698A>G (p.His233Arg)	CERS1, GDF1 (H135R +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy type 8	GUncertain significance

<< First< Prev

Page of 3