"Eurofins Ntd Llc (ga)"[submitter] AND "EFHC1"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 22

	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)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +4 more	GBenign/Likely benign
Select item 137193	NM_018100.4(EFHC1):c.64-5T>C	EFHC1	Single nucleotide variant (intron variant)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +3 more	GConflicting classifications of pathogenicity
Select item 205400	NM_018100.4(EFHC1):c.229C>A (p.Pro77Thr)	EFHC1 (P77T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 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)	Absence seizure +3 more	GBenign/Likely benign
Select item 534108	NM_018100.4(EFHC1):c.484C>T (p.His162Tyr)	EFHC1 (H162Y +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +2 more	GUncertain significance
Select item 286058	NM_018100.4(EFHC1):c.564A>G (p.Gln188=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	Absence seizure +2 more	GUncertain significance
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 +4 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)	not provided +3 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 +3 more	GBenign/Likely benign
Select item 2064	NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu)	EFHC1 (F229L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 197833	NM_018100.4(EFHC1):c.916A>G (p.Lys306Glu)	EFHC1 (K306E +1 more)	Single nucleotide variant (missense variant +1 more)	Absence seizure +2 more	GUncertain significance
Select item 128960	NM_018100.4(EFHC1):c.1155C>T (p.Asn385=)	EFHC1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 286732	NM_018100.4(EFHC1):c.1182del (p.Gln395fs)	EFHC1 (Q376fs +1 more)	Deletion (frameshift variant +1 more)	Absence seizure +2 more	GUncertain significance
Select item 593638	NM_018100.4(EFHC1):c.1262G>A (p.Arg421His)	EFHC1 (R421H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 284178	NM_018100.4(EFHC1):c.1280A>G (p.Glu427Gly)	EFHC1 (E427G +1 more)	Single nucleotide variant (missense variant +1 more)	Absence seizure +2 more	GUncertain significance
Select item 198888	NM_018100.4(EFHC1):c.1306C>T (p.Arg436Cys)	EFHC1 (R436C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 128962	NM_018100.4(EFHC1):c.1343T>C (p.Met448Thr)	EFHC1 (M448T +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +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)	Absence seizure +3 more	GConflicting classifications of pathogenicity
Select item 128964	NM_018100.4(EFHC1):c.1812A>C (p.Glu604Asp)	EFHC1 (E604D +1 more)	Single nucleotide variant (missense variant +1 more)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +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 +3 more	GBenign
Select item 128965	NM_018100.4(EFHC1):c.1852-6C>G	EFHC1	Single nucleotide variant (intron variant)	Myoclonic epilepsy, juvenile, susceptibility to, 1 +2 more	GConflicting classifications of pathogenicity
Select item 205417	NM_018100.4(EFHC1):c.1892A>G (p.Tyr631Cys)	EFHC1 (Y631C +1 more)	Single nucleotide variant (missense variant +1 more)	Absence seizure +2 more	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 22