"Baylor Genetics"[submitter] AND "IRAK1BP1"[gene] - ClinVar - NCBI

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Items: 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2441902	NM_017934.7(PHIP):c.5255A>T (p.Glu1752Val)	IRAK1BP1, PHIP (E1752V)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GUncertain significance
Select item 1030615	NM_017934.7(PHIP):c.4661C>T (p.Ala1554Val)	IRAK1BP1, PHIP (A1554V)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GUncertain significance
Select item 1030614	NM_017934.7(PHIP):c.4631-2A>T	IRAK1BP1, PHIP	Single nucleotide variant (splice acceptor variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GLikely pathogenic
Select item 1030613	NM_017934.7(PHIP):c.4495G>A (p.Glu1499Lys)	IRAK1BP1, PHIP (E1499K)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome +1 more	GUncertain significance
Select item 1030612	NM_017934.7(PHIP):c.3610A>G (p.Thr1204Ala)	IRAK1BP1, PHIP (T1204A)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GUncertain significance
Select item 523846	NM_017934.7(PHIP):c.2902C>T (p.Arg968Ter)	IRAK1BP1, PHIP (R968*)	Single nucleotide variant (nonsense)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome +1 more	GPathogenic/Likely pathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic