C4014492[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 475165	NM_001367561.1(DOCK7):c.6045C>T (p.Pro2015=)	DOCK7	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 23 +1 more	GBenign/Likely benign
Select item 1076900	NM_001367561.1(DOCK7):c.4637dup (p.Thr1547fs)	DOCK7 (T1507fs +3 more)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 23	GPathogenic/Likely pathogenic
Select item 771268	NM_001367561.1(DOCK7):c.4491G>A (p.Thr1497=)	DOCK7	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 23 +1 more	GLikely benign
Select item 573408	NM_001367561.1(DOCK7):c.4429A>G (p.Thr1477Ala)	DOCK7 (T1446A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1360703	NM_001367561.1(DOCK7):c.3546A>G (p.Gln1182=)	DOCK7	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 23	GConflicting classifications of pathogenicity
Select item 957869	NM_001367561.1(DOCK7):c.3211A>G (p.Asn1071Asp)	DOCK7 (N1040D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 568545	NM_001367561.1(DOCK7):c.2932C>T (p.Arg978Cys)	DOCK7 (R978C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 434959	NM_001367561.1(DOCK7):c.2908A>G (p.Ser970Gly)	DOCK7 (S939G +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1429663	NM_001367561.1(DOCK7):c.800T>C (p.Val267Ala)	DOCK7 (V267A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 23	GUncertain significance