"NIHR Bioresource Rare Diseases, University of Cambridge"[submitter] A - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 827688	NM_000061.3(BTK):c.1580G>A (p.Cys527Tyr)	BTK (C351Y +2 more)	Single nucleotide variant (missense variant)	Inherited Immunodeficiency Diseases	GLikely pathogenic
Select item 827690	NM_000061.3(BTK):c.837T>A (p.Tyr279Ter)	BTK (Y279* +1 more)	Single nucleotide variant (nonsense)	Inherited Immunodeficiency Diseases	GPathogenic
Select item 827691	NM_000061.3(BTK):c.764G>A (p.Arg255Gln)	BTK (R289Q +1 more)	Single nucleotide variant (missense variant)	Inherited Immunodeficiency Diseases	GLikely pathogenic
Select item 632730	NM_000061.3(BTK):c.240G>A (p.Pro80=)	BTK	Single nucleotide variant (synonymous variant)	X-linked agammaglobulinemia +2 more	GConflicting classifications of pathogenicity
Select item 11345	NM_000061.3(BTK):c.43C>T (p.Gln15Ter)	BTK (Q15* +1 more)	Single nucleotide variant (nonsense)	Inherited Immunodeficiency Diseases +2 more	GPathogenic/Likely pathogenic

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