"PreventionGenetics, part of Exact Sciences"[submitter] AND "EFHC1"[ge - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 128967	NM_018100.4(EFHC1):c.25T>C (p.Leu9=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 205400	NM_018100.4(EFHC1):c.229C>A (p.Pro77Thr)	EFHC1 (P77T +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +4 more	GBenign/Likely benign
Select item 196484	NM_018100.4(EFHC1):c.475C>G (p.Arg159Gly)	EFHC1 (R159G +1 more)	Single nucleotide variant (missense variant +1 more)	EFHC1-related condition +4 more	GBenign/Likely benign
Select item 128968	NM_018100.4(EFHC1):c.475C>T (p.Arg159Trp)	EFHC1 (R159W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 2063	NM_018100.4(EFHC1):c.545G>A (p.Arg182His)	EFHC1 (R182H +1 more)	Single nucleotide variant (missense variant +1 more)	Absence seizure +4 more	GBenign
Select item 128969	NM_018100.4(EFHC1):c.573+10A>G	EFHC1	Single nucleotide variant (intron variant)	Juvenile myoclonic epilepsy +4 more	GBenign/Likely benign
Select item 95886	NM_018100.4(EFHC1):c.629A>T (p.Asp210Val)	EFHC1 (D210V +1 more)	Single nucleotide variant (missense variant +1 more)	Absence seizure +5 more	GConflicting classifications of pathogenicity
Select item 205383	NM_018100.4(EFHC1):c.661C>T (p.Arg221Cys)	EFHC1 (R221C +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +4 more	GConflicting classifications of pathogenicity
Select item 205384	NM_018100.4(EFHC1):c.662G>A (p.Arg221His)	EFHC1 (R221H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 205389	NM_018100.4(EFHC1):c.779G>A (p.Arg260Gln)	EFHC1 (R260Q +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +5 more	GConflicting classifications of pathogenicity
Select item 3041427	NM_018100.4(EFHC1):c.917-1G>C	EFHC1	Single nucleotide variant (splice acceptor variant)	EFHC1-related condition	GUncertain significance
Select item 205402	NM_018100.4(EFHC1):c.1058G>A (p.Arg353Gln)	EFHC1 (R353Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 128962	NM_018100.4(EFHC1):c.1343T>C (p.Met448Thr)	EFHC1 (M448T +1 more)	Single nucleotide variant (missense variant +1 more)	Juvenile myoclonic epilepsy +4 more	GBenign/Likely benign
Select item 193726	NM_018100.4(EFHC1):c.1675T>C (p.Leu559=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	EFHC1-related condition +4 more	GConflicting classifications of pathogenicity
Select item 287376	NM_018100.4(EFHC1):c.1820A>G (p.Asn607Ser)	EFHC1 (N607S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign
Select item 128966	NM_018100.4(EFHC1):c.1855A>C (p.Ile619Leu)	EFHC1 (I619L +1 more)	Single nucleotide variant (missense variant +1 more)	Juvenile myoclonic epilepsy +4 more	GBenign/Likely benign
Select item 205416	NM_018100.4(EFHC1):c.1856T>G (p.Ile619Ser)	EFHC1 (I619S +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +3 more	GConflicting classifications of pathogenicity