C4551983[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1712487	NM_001242896.3(DEPDC5):c.413+1G>A	DEPDC5	Single nucleotide variant (splice donor variant)	Epilepsy, familial focal, with variable foci 1	GLikely pathogenic
Select item 1029136	NM_001242896.3(DEPDC5):c.530T>G (p.Met177Arg)	DEPDC5 (M149R +1 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial focal, with variable foci 1	GUncertain significance
Select item 1031248	NM_001242896.3(DEPDC5):c.836T>A (p.Ile279Asn)	DEPDC5 (I251N +1 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial focal, with variable foci 1	GUncertain significance
Select item 1033380	NM_001242896.3(DEPDC5):c.872-3C>T	DEPDC5	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 1 +1 more	GUncertain significance
Select item 1033381	NM_001242896.3(DEPDC5):c.880C>T (p.Pro294Ser)	DEPDC5 (P266S +1 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial focal, with variable foci 1 +1 more	GUncertain significance
Select item 1027724	NM_001242896.3(DEPDC5):c.1828C>A (p.Leu610Ile)	DEPDC5 (L610I +1 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial focal, with variable foci 1	GUncertain significance
Select item 1033378	NM_001242896.3(DEPDC5):c.1960T>C (p.Ser654Pro)	DEPDC5 (S626P +1 more)	Single nucleotide variant (missense variant +2 more)	Familial focal epilepsy with variable foci +1 more	GUncertain significance
Select item 1027725	NM_001242896.3(DEPDC5):c.2633+9T>G	DEPDC5	Single nucleotide variant (intron variant)	Epilepsy, familial focal, with variable foci 1	GUncertain significance
Select item 2671961	NM_001242896.3(DEPDC5):c.2697dup (p.Glu900fs)	DEPDC5 (E822fs +3 more)	Duplication (frameshift variant +1 more)	Epilepsy, familial focal, with variable foci 1	GLikely pathogenic
Select item 2124693	NM_001242896.3(DEPDC5):c.2725T>G (p.Ser909Ala)	DEPDC5 (S831A +3 more)	Single nucleotide variant (missense variant +1 more)	Familial focal epilepsy with variable foci +1 more	GUncertain significance
Select item 1027726	NM_001242896.3(DEPDC5):c.2734C>T (p.Arg912Trp)	DEPDC5 (R834W +3 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial focal, with variable foci 1 +1 more	GUncertain significance
Select item 1033379	NM_001242896.3(DEPDC5):c.3002G>A (p.Arg1001His)	DEPDC5 (R992H +3 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial focal, with variable foci 1	GUncertain significance
Select item 657926	NM_001242896.3(DEPDC5):c.3293G>A (p.Arg1098His)	DEPDC5 (R1098H +3 more)	Single nucleotide variant (missense variant +2 more)	Familial focal epilepsy with variable foci +1 more	GUncertain significance
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 1027727	NM_001242896.3(DEPDC5):c.3612C>G (p.Cys1204Trp)	DEPDC5 (C1126W +6 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, familial focal, with variable foci 1 +1 more	GUncertain significance