"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "ANGPTL3 - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1947363	NM_014495.4(ANGPTL3):c.19CTT[1] (p.Leu8del)	ANGPTL3, DOCK7 (L8del)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1465177	NM_014495.4(ANGPTL3):c.71C>T (p.Ser24Leu)	ANGPTL3, DOCK7 (S24L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1937707	NM_014495.4(ANGPTL3):c.73T>C (p.Ser25Pro)	ANGPTL3, DOCK7 (S25P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2717665	NM_014495.4(ANGPTL3):c.207T>C (p.Asn69=)	ANGPTL3, DOCK7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1167253	NM_014495.4(ANGPTL3):c.228C>G (p.Asn76Lys)	ANGPTL3, DOCK7 (N76K)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 23 +1 more	GBenign/Likely benign
Select item 2894743	NM_014495.4(ANGPTL3):c.243T>C (p.Ser81=)	ANGPTL3, DOCK7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1363700	NM_014495.4(ANGPTL3):c.272A>G (p.Glu91Gly)	ANGPTL3, DOCK7 (E91G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2138040	NM_014495.4(ANGPTL3):c.352C>T (p.Leu118Phe)	ANGPTL3, DOCK7 (L118F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 91866	NM_014495.4(ANGPTL3):c.363_367del (p.Asn121fs)	ANGPTL3, DOCK7 (N121fs)	Microsatellite (frameshift variant +1 more)	Developmental and epileptic encephalopathy, 23 +2 more	GPathogenic
Select item 2828374	NM_014495.4(ANGPTL3):c.378C>T (p.Ser126=)	ANGPTL3, DOCK7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 377251	NM_014495.4(ANGPTL3):c.379C>T (p.Leu127Phe)	ANGPTL3, DOCK7 (L127F)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1212517	NM_014495.4(ANGPTL3):c.496-17_496-14del	ANGPTL3, DOCK7	Deletion (intron variant)	Developmental and epileptic encephalopathy, 23 +1 more	GBenign/Likely benign
Select item 2890775	NM_014495.4(ANGPTL3):c.496-16T>A	DOCK7, ANGPTL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 745111	NM_014495.4(ANGPTL3):c.565T>C (p.Leu189=)	ANGPTL3, DOCK7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1031836	NM_014495.4(ANGPTL3):c.575del (p.Gln192fs)	ANGPTL3, DOCK7 (Q192fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1457637	NM_014495.4(ANGPTL3):c.579T>C (p.His193=)	ANGPTL3, DOCK7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1421587	NM_014495.4(ANGPTL3):c.667C>T (p.Pro223Ser)	ANGPTL3, DOCK7 (P223S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2138041	NM_014495.4(ANGPTL3):c.757G>T (p.Gly253Cys)	ANGPTL3, DOCK7 (G253C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1518946	NM_014495.4(ANGPTL3):c.766A>G (p.Thr256Ala)	ANGPTL3, DOCK7 (T256A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 775556	NM_001367561.1(DOCK7):c.1683-15199A>G	ANGPTL3, DOCK7 (M259T)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 23 +1 more	GBenign
Select item 2893114	NM_014495.4(ANGPTL3):c.835+1G>C	ANGPTL3, DOCK7	Single nucleotide variant (intron variant +1 more)	not provided	GLikely pathogenic
Select item 2167665	NM_014495.4(ANGPTL3):c.835+13T>A	DOCK7, ANGPTL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1115180	NM_001367561.1(DOCK7):c.1683-15660C>G	ANGPTL3, DOCK7	Single nucleotide variant (intron variant +1 more)	Developmental and epileptic encephalopathy, 23	GLikely benign
Select item 2121304	NM_014495.4(ANGPTL3):c.866T>A (p.Ile289Lys)	ANGPTL3, DOCK7 (I289K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1531513	NM_014495.4(ANGPTL3):c.912T>C (p.Tyr304=)	ANGPTL3, DOCK7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2000135	NM_014495.4(ANGPTL3):c.925C>T (p.Leu309Phe)	ANGPTL3, DOCK7 (L309F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2097260	NM_014495.4(ANGPTL3):c.926T>C (p.Leu309Pro)	ANGPTL3, DOCK7 (L309P)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2877024	NM_014495.4(ANGPTL3):c.931+7G>A	ANGPTL3, DOCK7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1803843	NM_014495.4(ANGPTL3):c.956A>G (p.Lys319Arg)	DOCK7, ANGPTL3 (K319R)	Single nucleotide variant (missense variant +1 more)	Familial hypobetalipoproteinemia 2 +2 more	GConflicting classifications of pathogenicity
Select item 1803867	NM_014495.4(ANGPTL3):c.995G>A (p.Arg332Gln)	ANGPTL3, DOCK7 (R332Q)	Single nucleotide variant (missense variant +1 more)	Familial hypobetalipoproteinemia 2 +2 more	GUncertain significance
Select item 1374797	NM_014495.4(ANGPTL3):c.998T>G (p.Ile333Ser)	ANGPTL3, DOCK7 (I333S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1177810	NM_014495.4(ANGPTL3):c.1003T>C (p.Leu335=)	ANGPTL3, DOCK7	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 23 +1 more	GBenign
Select item 1580782	NM_014495.4(ANGPTL3):c.1028A>G (p.His343Arg)	ANGPTL3, DOCK7 (H343R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2739307	NM_014495.4(ANGPTL3):c.1089T>G (p.Val363=)	ANGPTL3, DOCK7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2120397	NM_014495.4(ANGPTL3):c.1091C>G (p.Ala364Gly)	ANGPTL3, DOCK7 (A364G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2959742	NM_014495.4(ANGPTL3):c.1092G>C (p.Ala364=)	ANGPTL3, DOCK7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1632406	NM_014495.4(ANGPTL3):c.1098T>C (p.Thr366=)	ANGPTL3, DOCK7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1963538	NM_014495.4(ANGPTL3):c.1104T>C (p.Asn368=)	ANGPTL3, DOCK7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1573268	NM_014495.4(ANGPTL3):c.1112A>G (p.Asn371Ser)	ANGPTL3, DOCK7 (N371S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2805836	NM_014495.4(ANGPTL3):c.1122G>C (p.Pro374=)	ANGPTL3, DOCK7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2066772	NM_014495.4(ANGPTL3):c.1122G>A (p.Pro374=)	ANGPTL3, DOCK7	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2197337	NM_014495.4(ANGPTL3):c.1147A>T (p.Thr383Ser)	ANGPTL3, DOCK7 (T383S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2743270	NM_014495.4(ANGPTL3):c.1194T>C (p.Tyr398=)	ANGPTL3, DOCK7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1534509	NM_014495.4(ANGPTL3):c.1198+16A>G	ANGPTL3, DOCK7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1658470	NM_014495.4(ANGPTL3):c.1199-8T>G	ANGPTL3, DOCK7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1932982	NM_014495.4(ANGPTL3):c.1298C>T (p.Ser433Phe)	ANGPTL3, DOCK7 (S433F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2971185	NM_014495.4(ANGPTL3):c.1326C>T (p.Tyr442=)	ANGPTL3, DOCK7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3247842	NC_000001.10:g.(?_62976228)_(63153935_?)del	ANGPTL3, DOCK7	Deletion	Developmental and epileptic encephalopathy, 23	GPathogenic
Select item 3247793	NC_000001.10:g.(?_61548464)_(67861772_?)dup	C1orf141, AK4 +32 more	Duplication	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 2425382	NC_000001.10:g.(?_61548464)_(67861772_?)del	AK4, ALG6 +32 more	Deletion	not provided	GPathogenic
Select item 1455430	NC_000001.10:g.(?_62921085)_(63153935_?)del	ANGPTL3, DOCK7	Deletion	Developmental and epileptic encephalopathy, 23	GPathogenic
Select item 1003419	NC_000001.10:g.(?_63063238)_(63153935_?)dup	ANGPTL3, DOCK7	Duplication	Developmental and epileptic encephalopathy, 23	GUncertain significance

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Items: 52