"Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan"[submitte - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 93429	NM_000744.7(CHRNA4):c.1758+14A>G	CHRNA4	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
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)	Autosomal dominant nocturnal frontal lobe epilepsy 1 +4 more	GBenign
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)	Autosomal dominant nocturnal frontal lobe epilepsy 1 +4 more	GBenign
Select item 128750	NM_000744.7(CHRNA4):c.678T>C (p.Cys226=)	CHRNA4	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign
Select item 128749	NM_000744.7(CHRNA4):c.639T>C (p.Asp213=)	CHRNA4	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant nocturnal frontal lobe epilepsy +4 more	GBenign
Select item 3255314	NM_000744.7(CHRNA4):c.383+464G>C	CHRNA4, LOC126863087	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3255299	NM_000744.7(CHRNA4):c.383+378A>G	CHRNA4, LOC126863087	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 670759	NM_000744.7(CHRNA4):c.228+26A>G	CHRNA4	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1251570	NM_000744.7(CHRNA4):c.228+22G>A	CHRNA4	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 128747	NM_000744.7(CHRNA4):c.189C>T (p.Leu63=)	CHRNA4	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases +4 more	GBenign
Select item 3255233	NM_000744.7(CHRNA4):c.-30C>G	CHRNA4, LOC100130587	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign