ClinVar for MedGen (Select 337462) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2506552	GRCh37/hg19 Xp22.12(chrX:19564040-19954016)	BCLAF3, SH3KBP1	Copy number gain	Immunodeficiency 61	GUncertain significance
Select item 1165691	NM_031892.3(SH3KBP1):c.1266G>A (p.Pro422=)	SH3KBP1	Single nucleotide variant (synonymous variant)	SH3KBP1-related disorder +2 more	GBenign/Likely benign
Select item 626219	NC_000023.10:g.19667630_19886572del	SH3KBP1	Deletion	Immunodeficiency 61	GPathogenic

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