"Ambry Genetics"[submitter] AND "LOC126863087"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1063842	NM_000744.7(CHRNA4):c.367A>G (p.Ile123Val)	CHRNA4, LOC126863087 (I123V)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy +1 more	GUncertain significance
Select item 581212	NM_000744.7(CHRNA4):c.362C>T (p.Pro121Leu)	CHRNA4, LOC126863087 (P121L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 477010	NM_000744.7(CHRNA4):c.345C>T (p.Ser115=)	CHRNA4, LOC126863087	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy +2 more	GLikely benign
Select item 937064	NM_000744.7(CHRNA4):c.311A>C (p.Asp104Ala)	CHRNA4, LOC126863087 (D104A)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy +2 more	GConflicting classifications of pathogenicity
Select item 205045	NM_000744.7(CHRNA4):c.296G>A (p.Arg99His)	CHRNA4, LOC126863087 (R99H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 205043	NM_000744.7(CHRNA4):c.274G>C (p.Glu92Gln)	CHRNA4, LOC126863087 (E92Q)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy +6 more	GConflicting classifications of pathogenicity
Select item 1793622	NM_000744.7(CHRNA4):c.259G>T (p.Val87Leu)	CHRNA4, LOC126863087 (V87L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 377670	NM_000744.7(CHRNA4):c.258C>T (p.Asn86=)	CHRNA4, LOC126863087	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GBenign/Likely benign
Select item 392155	NM_000744.7(CHRNA4):c.255G>A (p.Thr85=)	CHRNA4, LOC126863087	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GLikely benign