"Revvity Omics, Revvity"[submitter] AND "IRAK1BP1"[gene] - ClinVar - NCBI

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Items: 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 978103	NM_017934.7(PHIP):c.5263G>C (p.Glu1755Gln)	IRAK1BP1, PHIP (E1755Q)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2434695	NM_017934.7(PHIP):c.5112T>G (p.Asp1704Glu)	IRAK1BP1, PHIP (D1704E)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GUncertain significance
Select item 2434691	NM_017934.7(PHIP):c.5020T>G (p.Leu1674Val)	IRAK1BP1, PHIP (L1674V)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GUncertain significance
Select item 2434692	NM_017934.7(PHIP):c.4846G>A (p.Ala1616Thr)	IRAK1BP1, PHIP (A1616T)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1683694	NM_017934.7(PHIP):c.4546G>A (p.Val1516Ile)	IRAK1BP1, PHIP (V1516I)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GUncertain significance
Select item 2434689	NM_017934.7(PHIP):c.4042C>T (p.Leu1348Phe)	IRAK1BP1, PHIP (L1348F)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GUncertain significance
Select item 2434694	NM_017934.7(PHIP):c.3506T>C (p.Val1169Ala)	IRAK1BP1, PHIP (V1169A)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity