"Baylor Genetics"[submitter] AND "DOCK7"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1033394	NM_001367561.1(DOCK7):c.5819G>A (p.Arg1940Gln)	DOCK7 (R1909Q +5 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 23	GUncertain significance
Select item 2441820	NM_001367561.1(DOCK7):c.5494-4A>G	DOCK7	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 23	GUncertain significance
Select item 541906	NM_001367561.1(DOCK7):c.4490C>T (p.Thr1497Met)	DOCK7 (T1488M +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 23 +1 more	GUncertain significance
Select item 1032725	NM_001367561.1(DOCK7):c.3689C>A (p.Ser1230Tyr)	DOCK7 (S1230Y +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 23 +1 more	GUncertain significance
Select item 1032724	NM_001367561.1(DOCK7):c.3098G>A (p.Arg1033Lys)	DOCK7 (R1002K +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 23 +1 more	GUncertain significance
Select item 1032723	NM_001367561.1(DOCK7):c.2654G>T (p.Arg885Ile)	DOCK7 (R885I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 23	GUncertain significance
Select item 475133	NM_001367561.1(DOCK7):c.2605G>A (p.Gly869Ser)	DOCK7 (G869S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 23 +2 more	GUncertain significance
Select item 1032722	NM_001367561.1(DOCK7):c.1142A>G (p.Lys381Arg)	DOCK7 (K381R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 23 +1 more	GConflicting classifications of pathogenicity