"Genome-Nilou Lab"[submitter] AND "ANGPTL3"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1167253	NM_014495.4(ANGPTL3):c.228C>G (p.Asn76Lys)	ANGPTL3, DOCK7 (N76K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2439036	NM_014495.4(ANGPTL3):c.280GAA[2] (p.Glu96del)	ANGPTL3, DOCK7 (E96del)	Microsatellite (inframe_deletion +1 more)	Familial hypobetalipoproteinemia 2 +1 more	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 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 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 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 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