C4551983[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 975076	NM_000085.5(CLCNKB):c.226C>T (p.Arg76Ter)	CLCNKB, LOC106501713 (R76*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 50819	NM_001242896.3(DEPDC5):c.21C>G (p.Tyr7Ter)	DEPDC5 (Y7*)	Single nucleotide variant (nonsense +1 more)	Epilepsy, familial focal, with variable foci 1 +3 more	GPathogenic
Select item 935803	NM_001242896.3(DEPDC5):c.373T>C (p.Cys125Arg)	DEPDC5 (C125R +1 more)	Single nucleotide variant (missense variant +1 more)	Familial focal epilepsy with variable foci +2 more	GUncertain significance
Select item 946444	NM_001242896.3(DEPDC5):c.500C>T (p.Thr167Met)	DEPDC5 (T139M +1 more)	Single nucleotide variant (missense variant +1 more)	Familial focal epilepsy with variable foci +2 more	GUncertain significance
Select item 1304557	NM_001242896.3(DEPDC5):c.722C>T (p.Ser241Leu)	DEPDC5 (S213L +1 more)	Single nucleotide variant (missense variant +1 more)	Familial focal epilepsy with variable foci +2 more	GUncertain significance
Select item 579549	NM_001242896.3(DEPDC5):c.791G>A (p.Arg264Lys)	DEPDC5 (R264K +1 more)	Single nucleotide variant (missense variant +1 more)	Familial focal epilepsy with variable foci +2 more	GUncertain significance
Select item 2580197	NM_001242896.3(DEPDC5):c.856C>T (p.Arg286Ter)	DEPDC5 (R258*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 466500	NM_001242896.3(DEPDC5):c.968A>G (p.Asn323Ser)	DEPDC5 (N323S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 575286	NM_001242896.3(DEPDC5):c.1354G>A (p.Ala452Thr)	DEPDC5 (A452T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 420430	NM_001242896.3(DEPDC5):c.1525C>T (p.Arg509Cys)	DEPDC5 (R509C +1 more)	Single nucleotide variant (missense variant +1 more)	Familial focal epilepsy with variable foci +4 more	GConflicting classifications of pathogenicity
Select item 649304	NM_001242896.3(DEPDC5):c.2045T>A (p.Phe682Tyr)	DEPDC5 (F654Y +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 653098	NM_001242896.3(DEPDC5):c.2377A>G (p.Met793Val)	DEPDC5 (M765V +3 more)	Single nucleotide variant (missense variant +1 more)	Familial focal epilepsy with variable foci +2 more	GUncertain significance
Select item 407354	NM_001242896.3(DEPDC5):c.2507A>G (p.Tyr836Cys)	DEPDC5 (Y836C +3 more)	Single nucleotide variant (missense variant +1 more)	Familial focal epilepsy with variable foci +1 more	GConflicting classifications of pathogenicity
Select item 534801	NM_001242896.3(DEPDC5):c.2576C>T (p.Thr859Met)	DEPDC5 (T859M +3 more)	Single nucleotide variant (missense variant +1 more)	DEPDC5-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 466480	NM_001242896.3(DEPDC5):c.3216G>C (p.Glu1072Asp)	DEPDC5 (E1072D +3 more)	Single nucleotide variant (missense variant +1 more)	Familial focal epilepsy with variable foci +1 more	GUncertain significance
Select item 264760	NM_001242896.3(DEPDC5):c.3217A>C (p.Ser1073Arg)	DEPDC5 (S1073R +3 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial focal, with variable foci 1 +1 more	GUncertain significance
Select item 665901	NM_001242896.3(DEPDC5):c.3218G>A (p.Ser1073Asn)	DEPDC5 (S1045N +3 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial focal, with variable foci 1 +1 more	GUncertain significance
Select item 1547331	NM_001242896.3(DEPDC5):c.3264+13G>A	DEPDC5	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 1 +1 more	GLikely benign
Select item 210846	NM_001242896.3(DEPDC5):c.3311C>T (p.Ser1104Leu)	DEPDC5 (S1104L +3 more)	Single nucleotide variant (missense variant +2 more)	Familial focal epilepsy with variable foci +4 more	GConflicting classifications of pathogenicity
Select item 407351	NM_001242896.3(DEPDC5):c.3643G>A (p.Val1215Met)	DEPDC5 (V1115M +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 414465	NM_001242896.3(DEPDC5):c.3683T>C (p.Ile1228Thr)	DEPDC5 (I1128T +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 639259	NM_001242896.3(DEPDC5):c.3836A>G (p.His1279Arg)	DEPDC5 (H1201R +6 more)	Single nucleotide variant (missense variant +1 more)	Familial focal epilepsy with variable foci +1 more	GUncertain significance
Select item 534785	NM_001242896.3(DEPDC5):c.4156A>C (p.Ile1386Leu)	DEPDC5 (I1286L +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 664132	NM_001242896.3(DEPDC5):c.4580G>A (p.Arg1527Gln)	DEPDC5 (R1427Q +6 more)	Single nucleotide variant (missense variant +1 more)	Familial focal epilepsy with variable foci +1 more	GUncertain significance

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Items: 24