C1838049[trait identifier] AND "Athena Diagnostics"[submitter] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 93428	NM_000744.7(CHRNA4):c.1659G>A (p.Ala553=)	CHRNA4	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +4 more	GBenign
Select item 93427	NM_000744.7(CHRNA4):c.1629C>T (p.Ser543=)	CHRNA4	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +4 more	GBenign
Select item 93426	NM_000744.7(CHRNA4):c.1401C>T (p.Ser467=)	CHRNA4	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GBenign/Likely benign
Select item 205026	NM_000744.7(CHRNA4):c.1316A>C (p.Lys439Thr)	CHRNA4 (K439T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 93425	NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=)	CHRNA4	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy 1 +4 more	GBenign
Select item 93424	NM_000744.7(CHRNA4):c.1209G>T (p.Pro403=)	CHRNA4	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +4 more	GBenign
Select item 128750	NM_000744.7(CHRNA4):c.678T>C (p.Cys226=)	CHRNA4	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign
Select item 128749	NM_000744.7(CHRNA4):c.639T>C (p.Asp213=)	CHRNA4	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign
Select item 128747	NM_000744.7(CHRNA4):c.189C>T (p.Leu63=)	CHRNA4	Single nucleotide variant (synonymous variant +2 more)	not provided +4 more	GBenign
Select item 93430	NM_000744.7(CHRNA4):c.51G>A (p.Leu17=)	CHRNA4, LOC100130587	Single nucleotide variant (synonymous variant +2 more)	Autosomal dominant nocturnal frontal lobe epilepsy +4 more	GBenign
Select item 136767	NM_000744.7(CHRNA4):c.9A>G (p.Leu3=)	CHRNA4, LOC100130587	Single nucleotide variant (synonymous variant +2 more)	not specified +5 more	GBenign/Likely benign