"Wendy Chung Laboratory, Columbia University Medical Center"[submitter - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664252	NM_017934.7(PHIP):c.4979del (p.Gly1660fs)	IRAK1BP1, PHIP (G1660fs)	Deletion (frameshift variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GLikely pathogenic
Select item 627524	NM_017934.7(PHIP):c.4570del (p.Ser1524fs)	IRAK1BP1, PHIP (S1524fs)	Deletion (frameshift variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GPathogenic
Select item 2664251	NM_017934.7(PHIP):c.4102G>T (p.Glu1368Ter)	IRAK1BP1, PHIP (E1368*)	Single nucleotide variant (nonsense)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GLikely pathogenic
Select item 2664250	NM_017934.7(PHIP):c.3952dup (p.Ile1318fs)	IRAK1BP1, PHIP (I1318fs)	Duplication (frameshift variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GPathogenic
Select item 2664248	NM_017934.7(PHIP):c.3902dup (p.Asp1302fs)	IRAK1BP1, PHIP (D1302fs)	Duplication (frameshift variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GLikely pathogenic
Select item 430079	NM_017934.7(PHIP):c.3782+3_3782+6del	IRAK1BP1, PHIP	Microsatellite (splice donor variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome +1 more	GLikely pathogenic
Select item 984976	NM_017934.7(PHIP):c.3631_3634del (p.Gln1211fs)	IRAK1BP1, PHIP (Q1211fs)	Deletion (frameshift variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome +1 more	GPathogenic
Select item 627522	NM_017934.7(PHIP):c.3595del (p.Thr1198_Val1199insTer)	IRAK1BP1, PHIP	Deletion (nonsense)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GPathogenic
Select item 2664247	NM_017934.7(PHIP):c.3499del (p.Arg1167fs)	IRAK1BP1, PHIP (R1167fs)	Deletion (frameshift variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GPathogenic
Select item 2664246	NM_017934.7(PHIP):c.3394G>T (p.Glu1132Ter)	IRAK1BP1, PHIP (E1132*)	Single nucleotide variant (nonsense)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GPathogenic
Select item 2664245	NM_017934.7(PHIP):c.3216_3227del (p.Phe1072_Ile1076delinsLeu)	IRAK1BP1, PHIP	Deletion (inframe_indel)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GLikely pathogenic
Select item 627527	NM_017934.7(PHIP):c.3161del (p.Val1053_Leu1054insTer)	IRAK1BP1, PHIP	Deletion (nonsense)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GPathogenic
Select item 2664244	NM_017934.7(PHIP):c.2978G>A (p.Trp993Ter)	IRAK1BP1, PHIP (W993*)	Single nucleotide variant (nonsense)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GLikely pathogenic
Select item 2664243	NM_017934.7(PHIP):c.2890-2A>G	IRAK1BP1, PHIP	Single nucleotide variant (splice acceptor variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GLikely pathogenic
Select item 1695371	NM_017934.7(PHIP):c.2888A>G (p.Glu963Gly)	IRAK1BP1, PHIP (E963G)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GLikely pathogenic