C4014492[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2440989	NM_001367561.1(DOCK7):c.5770G>A (p.Glu1924Lys)	DOCK7 (E1882K +5 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 23	GUncertain significance
Select item 1020031	NM_001367561.1(DOCK7):c.5302T>C (p.Tyr1768His)	DOCK7 (Y1728H +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 23	GUncertain significance
Select item 475148	NM_001367561.1(DOCK7):c.4415A>G (p.Asp1472Gly)	DOCK7 (D1463G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1344913	NM_001367561.1(DOCK7):c.3676G>A (p.Asp1226Asn)	DOCK7 (D1195N +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 23 +1 more	GUncertain significance
Select item 1163733	NM_001367561.1(DOCK7):c.2503A>G (p.Asn835Asp)	DOCK7 (N835D)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 23 +1 more	GUncertain significance
Select item 948942	NM_001367561.1(DOCK7):c.2360G>A (p.Arg787Gln)	DOCK7 (R787Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 23	GUncertain significance
Select item 2439036	NM_014495.4(ANGPTL3):c.280GAA[2] (p.Glu96del)	ANGPTL3, DOCK7 (E96del)	Microsatellite (inframe_deletion +1 more)	Developmental and epileptic encephalopathy, 23 +1 more	GUncertain significance
Select item 2439905	NM_001367561.1(DOCK7):c.1005_1011del (p.Pro336fs)	DOCK7 (P336fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 23	GLikely pathogenic
Select item 2165532	NM_001367561.1(DOCK7):c.349A>G (p.Ile117Val)	DOCK7 (I117V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 23	GUncertain significance
Select item 649776	NM_001367561.1(DOCK7):c.160G>A (p.Ala54Thr)	DOCK7 (A54T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance