Related gene-specific medical variations for Gene (Select 134728) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377129	NM_017934.7(PHIP):c.3535+1G>A	IRAK1BP1, PHIP	Single nucleotide variant (splice donor variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GLikely pathogenic
Select item 3376478	NM_017934.7(PHIP):c.4081A>G (p.Met1361Val)	IRAK1BP1, PHIP (M1361V)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GUncertain significance
Select item 3376281	NM_017934.7(PHIP):c.4997dup (p.Gln1667fs)	IRAK1BP1, PHIP (Q1667fs)	Duplication (frameshift variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GUncertain significance
Select item 3373188	NM_017934.7(PHIP):c.5440G>C (p.Ala1814Pro)	IRAK1BP1, PHIP (A1814P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373161	NM_017934.7(PHIP):c.4420T>A (p.Ser1474Thr)	IRAK1BP1, PHIP (S1474T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371901	NM_017934.7(PHIP):c.5236A>T (p.Ile1746Leu)	IRAK1BP1, PHIP (I1746L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371836	NM_017934.7(PHIP):c.2951A>G (p.Tyr984Cys)	IRAK1BP1, PHIP (Y984C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369779	NM_017934.7(PHIP):c.2890G>C (p.Val964Leu)	IRAK1BP1, PHIP (V964L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367986	NM_017934.7(PHIP):c.5239GAT[3] (p.Asp1748_Pro1749insAsp)	IRAK1BP1, PHIP	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 3367880	NM_017934.7(PHIP):c.2868T>A (p.Phe956Leu)	IRAK1BP1, PHIP (F956L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366840	NM_017934.7(PHIP):c.4898A>C (p.Lys1633Thr)	IRAK1BP1, PHIP (K1633T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3365722	NM_017934.7(PHIP):c.5204dup (p.Lys1736fs)	IRAK1BP1, PHIP (K1736fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3363657	NM_017934.7(PHIP):c.3454C>G (p.Leu1152Val)	IRAK1BP1, PHIP (L1152V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363452	NM_017934.7(PHIP):c.5416C>T (p.Arg1806Ter)	IRAK1BP1, PHIP (R1806*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3363228	NM_017934.7(PHIP):c.3146T>C (p.Ile1049Thr)	IRAK1BP1, PHIP (I1049T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3358507	NM_017934.7(PHIP):c.4926A>C (p.Lys1642Asn)	IRAK1BP1, PHIP (K1642N)	Single nucleotide variant (missense variant)	PHIP-related disorder	GUncertain significance
Select item 3358146	NM_017934.7(PHIP):c.4495G>C (p.Glu1499Gln)	IRAK1BP1, PHIP (E1499Q)	Single nucleotide variant (missense variant)	PHIP-related disorder	GUncertain significance
Select item 3357905	NM_017934.7(PHIP):c.4425C>G (p.Thr1475=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	PHIP-related disorder	GLikely benign
Select item 3357822	NM_017934.7(PHIP):c.3656+1246C>A	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	PHIP-related disorder	GLikely benign
Select item 3357734	NM_017934.7(PHIP):c.3234T>C (p.Asp1078=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	PHIP-related disorder	GLikely benign
Select item 3357582	NM_017934.7(PHIP):c.2889+9A>G	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	PHIP-related disorder	GLikely benign
Select item 3357235	NM_017934.7(PHIP):c.3474C>A (p.Thr1158=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	PHIP-related disorder	GLikely benign
Select item 3357204	NM_017934.7(PHIP):c.3379+9G>A	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	PHIP-related disorder	GLikely benign
Select item 3356784	NM_017934.7(PHIP):c.3538A>G (p.Ile1180Val)	IRAK1BP1, PHIP (I1180V)	Single nucleotide variant (missense variant)	PHIP-related disorder	GUncertain significance
Select item 3356210	NM_017934.7(PHIP):c.4249C>T (p.His1417Tyr)	IRAK1BP1, PHIP (H1417Y)	Single nucleotide variant (missense variant)	PHIP-related disorder	GUncertain significance
Select item 3356157	NM_017934.7(PHIP):c.5046C>T (p.Ile1682=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	PHIP-related disorder	GLikely benign
Select item 3356071	NM_017934.7(PHIP):c.4530A>C (p.Arg1510=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	PHIP-related disorder	GLikely benign
Select item 3355936	NM_017934.7(PHIP):c.4617A>T (p.Ile1539=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	PHIP-related disorder	GLikely benign
Select item 3355788	NM_017934.7(PHIP):c.2770-5G>T	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	PHIP-related disorder	GLikely benign
Select item 3355756	NM_017934.7(PHIP):c.3864A>G (p.Lys1288=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	PHIP-related disorder	GLikely benign
Select item 3355297	NM_017934.7(PHIP):c.4659A>G (p.Lys1553=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	PHIP-related disorder	GLikely benign
Select item 3355289	NM_017934.7(PHIP):c.3078A>G (p.Leu1026=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	PHIP-related disorder	GLikely benign
Select item 3355271	NM_017934.7(PHIP):c.4080A>G (p.Pro1360=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	PHIP-related disorder	GLikely benign
Select item 3355227	NM_017934.7(PHIP):c.5094T>C (p.Thr1698=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	PHIP-related disorder	GLikely benign
Select item 3355104	NM_017934.7(PHIP):c.3656+1233_3656+1239del	IRAK1BP1, PHIP	Deletion (intron variant)	PHIP-related disorder	GLikely benign
Select item 3355091	NM_017934.7(PHIP):c.3039G>C (p.Val1013=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	PHIP-related disorder	GLikely benign
Select item 3355012	NM_017934.7(PHIP):c.2952T>C (p.Tyr984=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	PHIP-related disorder	GLikely benign
Select item 3354925	NM_017934.7(PHIP):c.3985T>C (p.Leu1329=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	PHIP-related disorder	GLikely benign
Select item 3354914	NM_017934.7(PHIP):c.4370+7A>G	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	PHIP-related disorder	GLikely benign
Select item 3354632	NM_017934.7(PHIP):c.3000A>G (p.Glu1000=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	PHIP-related disorder	GLikely benign
Select item 3354421	NM_017934.7(PHIP):c.5170A>G (p.Lys1724Glu)	IRAK1BP1, PHIP (K1724E)	Single nucleotide variant (missense variant)	PHIP-related disorder	GUncertain significance
Select item 3354231	NM_017934.7(PHIP):c.4289G>A (p.Arg1430His)	IRAK1BP1, PHIP (R1430H)	Single nucleotide variant (missense variant)	PHIP-related disorder	GUncertain significance
Select item 3354118	NM_017934.7(PHIP):c.3471T>C (p.Gly1157=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	PHIP-related disorder	GLikely benign
Select item 3354090	NM_017934.7(PHIP):c.3273T>A (p.Leu1091=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	PHIP-related disorder	GLikely benign
Select item 3354033	NM_017934.7(PHIP):c.3656+1248T>A	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	PHIP-related disorder	GLikely benign
Select item 3353831	NM_017934.7(PHIP):c.3205+8A>G	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	PHIP-related disorder	GLikely benign
Select item 3353764	NM_017934.7(PHIP):c.2997+9T>C	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	PHIP-related disorder	GLikely benign
Select item 3353739	NM_017934.7(PHIP):c.2847C>T (p.Thr949=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	PHIP-related disorder	GLikely benign
Select item 3353660	NM_017934.7(PHIP):c.4909A>C (p.Arg1637=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	PHIP-related disorder	GLikely benign
Select item 3353644	NM_017934.7(PHIP):c.*7C>T	IRAK1BP1, PHIP	Single nucleotide variant (3 prime UTR variant)	PHIP-related disorder	GLikely benign
Select item 3353426	NM_017934.7(PHIP):c.3707G>A (p.Arg1236Gln)	IRAK1BP1, PHIP (R1236Q)	Single nucleotide variant (missense variant)	PHIP-related disorder	GUncertain significance
Select item 3353250	NM_017934.7(PHIP):c.3412C>T (p.Pro1138Ser)	IRAK1BP1, PHIP (P1138S)	Single nucleotide variant (missense variant)	PHIP-related disorder	GUncertain significance
Select item 3352918	NM_017934.7(PHIP):c.3438A>C (p.Ser1146=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	PHIP-related disorder	GLikely benign
Select item 3352564	NM_017934.7(PHIP):c.4054-4C>G	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	PHIP-related disorder	GLikely benign
Select item 3352051	NM_017934.7(PHIP):c.5154G>T (p.Arg1718Ser)	IRAK1BP1, PHIP (R1718S)	Single nucleotide variant (missense variant)	PHIP-related disorder	GUncertain significance
Select item 3351777	NM_017934.7(PHIP):c.3893G>A (p.Arg1298Gln)	IRAK1BP1, PHIP (R1298Q)	Single nucleotide variant (missense variant)	PHIP-related disorder	GUncertain significance
Select item 3351647	NM_017934.7(PHIP):c.5291C>T (p.Pro1764Leu)	IRAK1BP1, PHIP (P1764L)	Single nucleotide variant (missense variant)	PHIP-related disorder	GUncertain significance
Select item 3351634	NM_017934.7(PHIP):c.4544C>T (p.Pro1515Leu)	IRAK1BP1, PHIP (P1515L)	Single nucleotide variant (missense variant)	PHIP-related disorder	GUncertain significance
Select item 3351192	NM_017934.7(PHIP):c.3561C>T (p.Pro1187=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	PHIP-related disorder	GLikely benign
Select item 3350833	NM_017934.7(PHIP):c.5237T>C (p.Ile1746Thr)	IRAK1BP1, PHIP (I1746T)	Single nucleotide variant (missense variant)	PHIP-related disorder	GUncertain significance
Select item 3350134	NM_017934.7(PHIP):c.3122+7A>G	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	PHIP-related disorder	GUncertain significance
Select item 3350060	NM_017934.7(PHIP):c.3219G>A (p.Arg1073=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	PHIP-related disorder	GLikely benign
Select item 3349828	NM_017934.7(PHIP):c.3782+10C>G	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	PHIP-related disorder	GLikely benign
Select item 3349428	NM_017934.7(PHIP):c.2770-3C>G	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	PHIP-related disorder	GUncertain significance
Select item 3349312	NM_017934.7(PHIP):c.5152A>C (p.Arg1718=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	PHIP-related disorder	GLikely benign
Select item 3349243	NM_017934.7(PHIP):c.4187C>T (p.Thr1396Ile)	IRAK1BP1, PHIP (T1396I)	Single nucleotide variant (missense variant)	PHIP-related disorder	GUncertain significance
Select item 3349189	NM_017934.7(PHIP):c.4153_4155delinsATT (p.Val1385Ile)	IRAK1BP1, PHIP (V1385I)	Indel (missense variant)	PHIP-related disorder	GUncertain significance
Select item 3348892	NM_017934.7(PHIP):c.5120A>C (p.Gln1707Pro)	IRAK1BP1, PHIP (Q1707P)	Single nucleotide variant (missense variant)	PHIP-related disorder	GUncertain significance
Select item 3348760	NM_017934.7(PHIP):c.2770-8T>G	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	PHIP-related disorder	GUncertain significance
Select item 3348626	NM_017934.7(PHIP):c.3609A>G (p.Pro1203=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	PHIP-related disorder	GLikely benign
Select item 3348552	NM_017934.7(PHIP):c.3282G>A (p.Glu1094=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	PHIP-related disorder	GLikely benign
Select item 3348448	NM_017934.7(PHIP):c.3508G>A (p.Ala1170Thr)	IRAK1BP1, PHIP (A1170T)	Single nucleotide variant (missense variant)	PHIP-related disorder	GUncertain significance
Select item 3348397	NM_017934.7(PHIP):c.4252A>G (p.Ile1418Val)	IRAK1BP1, PHIP (I1418V)	Single nucleotide variant (missense variant)	PHIP-related disorder	GUncertain significance
Select item 3348062	NM_017934.7(PHIP):c.4167C>T (p.Phe1389=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	PHIP-related disorder	GLikely benign
Select item 3347950	NM_017934.7(PHIP):c.4667A>G (p.Asn1556Ser)	IRAK1BP1, PHIP (N1556S)	Single nucleotide variant (missense variant)	PHIP-related disorder	GUncertain significance
Select item 3347728	NM_017934.7(PHIP):c.4751C>A (p.Pro1584Gln)	IRAK1BP1, PHIP (P1584Q)	Single nucleotide variant (missense variant)	PHIP-related disorder	GUncertain significance
Select item 3347493	NM_017934.7(PHIP):c.3931A>G (p.Asn1311Asp)	IRAK1BP1, PHIP (N1311D)	Single nucleotide variant (missense variant)	PHIP-related disorder	GUncertain significance
Select item 3347282	NM_017934.7(PHIP):c.2855G>A (p.Arg952Gln)	IRAK1BP1, PHIP (R952Q)	Single nucleotide variant (missense variant)	PHIP-related disorder	GUncertain significance
Select item 3347260	NM_017934.7(PHIP):c.3399A>G (p.Leu1133=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	PHIP-related disorder	GUncertain significance
Select item 3345658	NM_017934.7(PHIP):c.3122+10G>C	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	PHIP-related disorder	GLikely benign
Select item 3345375	NM_017934.7(PHIP):c.3043_3045dup (p.Leu1015_Pro1016insLeu)	IRAK1BP1, PHIP	Duplication (inframe_insertion)	PHIP-related disorder	GUncertain significance
Select item 3345348	NM_017934.7(PHIP):c.4270G>C (p.Asp1424His)	IRAK1BP1, PHIP (D1424H)	Single nucleotide variant (missense variant)	PHIP-related disorder	GUncertain significance
Select item 3345209	NM_017934.7(PHIP):c.3263A>T (p.Gln1088Leu)	IRAK1BP1, PHIP (Q1088L)	Single nucleotide variant (missense variant)	PHIP-related disorder	GUncertain significance
Select item 3344929	NM_017934.7(PHIP):c.4309A>G (p.Ile1437Val)	IRAK1BP1, PHIP (I1437V)	Single nucleotide variant (missense variant)	PHIP-related disorder	GUncertain significance
Select item 3344316	NM_017934.7(PHIP):c.3927A>G (p.Leu1309=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	PHIP-related disorder	GLikely benign
Select item 3344223	NM_017934.7(PHIP):c.4705G>A (p.Gly1569Ser)	IRAK1BP1, PHIP (G1569S)	Single nucleotide variant (missense variant)	PHIP-related disorder	GUncertain significance
Select item 3343321	NM_017934.7(PHIP):c.5131C>G (p.Arg1711Gly)	IRAK1BP1, PHIP (R1711G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342980	NM_017934.7(PHIP):c.3013A>C (p.Lys1005Gln)	IRAK1BP1, PHIP (K1005Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337451	NM_017934.7(PHIP):c.3318-1G>C	IRAK1BP1, PHIP	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 3306171	NM_017934.7(PHIP):c.3557C>G (p.Ala1186Gly)	IRAK1BP1, PHIP (A1186G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306170	NM_017934.7(PHIP):c.3017T>C (p.Ile1006Thr)	IRAK1BP1, PHIP (I1006T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3242043	NM_017934.7(PHIP):c.3675G>T (p.Met1225Ile)	IRAK1BP1, PHIP (M1225I)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GUncertain significance
Select item 3233696	NM_017934.7(PHIP):c.4285C>G (p.Leu1429Val)	IRAK1BP1, PHIP (L1429V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3212214	NM_017934.7(PHIP):c.5036T>C (p.Val1679Ala)	IRAK1BP1, PHIP (V1679A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067317	NM_017934.7(PHIP):c.4053+8T>A	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3061562	NM_017934.7(PHIP):c.4745_4750dup (p.Lys1583_Pro1584insGlnLys)	IRAK1BP1, PHIP	Duplication	PHIP-related disorder	GUncertain significance
Select item 3060654	NM_017934.7(PHIP):c.4095C>T (p.Thr1365=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	PHIP-related disorder	GLikely benign
Select item 3060215	NM_017934.7(PHIP):c.4074C>T (p.Asp1358=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	PHIP-related disorder	GLikely benign
Select item 3058863	NM_017934.7(PHIP):c.4664T>G (p.Leu1555Trp)	IRAK1BP1, PHIP (L1555W)	Single nucleotide variant (missense variant)	PHIP-related disorder	GUncertain significance
Select item 3058121	NM_017934.7(PHIP):c.3656+1234_3656+1239del	IRAK1BP1, PHIP	Deletion (intron variant)	PHIP-related disorder	GLikely benign

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