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

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1570224	NM_000061.3(BTK):c.1104A>G (p.Gly368=)	BTK	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 3262045	NM_000061.3(BTK):c.717T>A (p.Asp239Glu)	BTK (D239E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2263652	NM_000061.3(BTK):c.536G>T (p.Ser179Ile)	BTK (S179I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239218	NM_000061.3(BTK):c.445G>A (p.Asp149Asn)	BTK (D149N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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