"Undiagnosed Diseases Network, NIH"[submitter] AND "IRAK1BP1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 638583	NM_017934.7(PHIP):c.3656+1242A>T	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GPathogenic
Select item 870652	Single allele	IRAK1BP1, PHIP	Deletion	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GPathogenic