Related gene-specific medical variations for Gene (Select 55023) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 (inframe insertion)	PHIP-related condition	GUncertain significance
Select item 3060654	NM_017934.7(PHIP):c.4095C>T (p.Thr1365=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	PHIP-related condition	GLikely benign
Select item 3060215	NM_017934.7(PHIP):c.4074C>T (p.Asp1358=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	PHIP-related condition	GLikely benign
Select item 3058863	NM_017934.7(PHIP):c.4664T>G (p.Leu1555Trp)	IRAK1BP1, PHIP (L1555W)	Single nucleotide variant (missense variant)	PHIP-related condition	GUncertain significance
Select item 3058121	NM_017934.7(PHIP):c.3656+1234_3656+1239del	IRAK1BP1, PHIP	Deletion (intron variant)	PHIP-related condition	GLikely benign
Select item 3057797	NM_017934.7(PHIP):c.4783C>T (p.Pro1595Ser)	IRAK1BP1, PHIP (P1595S)	Single nucleotide variant (missense variant)	PHIP-related condition	GUncertain significance
Select item 3054439	NM_017934.7(PHIP):c.4053+9T>C	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	PHIP-related condition	GLikely benign
Select item 3050885	NM_017934.7(PHIP):c.40+10G>C	LOC129996745, PHIP	Single nucleotide variant (intron variant)	PHIP-related condition	GLikely benign
Select item 3050389	NM_017934.7(PHIP):c.4140G>A (p.Glu1380=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	PHIP-related condition	GLikely benign
Select item 3047309	NM_017934.7(PHIP):c.3656+1237_3656+1239del	IRAK1BP1, PHIP	Deletion (intron variant)	PHIP-related condition	GLikely benign
Select item 3041792	NM_017934.7(PHIP):c.4683T>C (p.Pro1561=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	PHIP-related condition	GLikely benign
Select item 3037863	NM_017934.7(PHIP):c.4227C>T (p.Arg1409=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	PHIP-related condition	GLikely benign
Select item 3036717	NM_017934.7(PHIP):c.4835G>C (p.Cys1612Ser)	IRAK1BP1, PHIP (C1612S)	Single nucleotide variant (missense variant)	PHIP-related condition	GUncertain significance
Select item 3033065	NM_017934.7(PHIP):c.3656+1239dup	IRAK1BP1, PHIP	Duplication (intron variant)	PHIP-related condition	GBenign
Select item 3032953	NM_017934.7(PHIP):c.3656+1239del	IRAK1BP1, PHIP	Deletion (intron variant)	PHIP-related condition	GBenign
Select item 3031232	NM_017934.7(PHIP):c.3656+1237_3656+1239dup	IRAK1BP1, PHIP	Duplication (intron variant)	PHIP-related condition	GLikely benign
Select item 3031131	NM_017934.7(PHIP):c.3656+1236_3656+1239del	IRAK1BP1, PHIP	Deletion (intron variant)	PHIP-related condition	GLikely benign
Select item 3030580	NM_017934.7(PHIP):c.4493C>T (p.Thr1498Ile)	IRAK1BP1, PHIP (T1498I)	Single nucleotide variant (missense variant)	PHIP-related condition	GUncertain significance
Select item 3030238	NM_017934.7(PHIP):c.3656+1238_3656+1239dup	IRAK1BP1, PHIP	Duplication (intron variant)	PHIP-related condition	GLikely benign
Select item 3029303	NM_017934.7(PHIP):c.4281T>C (p.Ser1427=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	PHIP-related condition	GLikely benign
Select item 3029282	NM_017934.7(PHIP):c.3333T>C (p.Asp1111=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	PHIP-related condition	GLikely benign
Select item 3029225	NM_017934.7(PHIP):c.3210C>T (p.Asp1070=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	PHIP-related condition	GLikely benign
Select item 3026435	NM_017934.7(PHIP):c.4661C>G (p.Ala1554Gly)	IRAK1BP1, PHIP (A1554G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3024637	GRCh37/hg19 6q14.1(chr6:79650307-79798558)x3	PHIP	Copy number gain	not provided	GUncertain significance
Select item 3024314	NM_017934.7(PHIP):c.4981A>G (p.Arg1661Gly)	IRAK1BP1, PHIP (R1661G)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GUncertain significance
Select item 3024269	NM_017934.7(PHIP):c.3243G>A (p.Trp1081Ter)	IRAK1BP1, PHIP (W1081*)	Single nucleotide variant (nonsense)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GPathogenic
Select item 3017664	NM_017934.7(PHIP):c.4514G>A (p.Arg1505Gln)	IRAK1BP1, PHIP (R1505Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3015750	NM_017934.7(PHIP):c.4885G>A (p.Gly1629Arg)	IRAK1BP1, PHIP (G1629R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3013982	NM_017934.7(PHIP):c.5193C>G (p.Val1731=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2969062	NM_017934.7(PHIP):c.4032G>A (p.Pro1344=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2920308	NM_017934.7(PHIP):c.4485C>T (p.Asn1495=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2915417	NM_017934.7(PHIP):c.2840C>T (p.Thr947Ile)	IRAK1BP1, PHIP (T947I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2904178	NM_017934.7(PHIP):c.4572T>A (p.Ser1524=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2892547	NM_017934.7(PHIP):c.2974C>A (p.Pro992Thr)	IRAK1BP1, PHIP (P992T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2891590	NM_017934.7(PHIP):c.3303A>G (p.Gln1101=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	PHIP-related condition +1 more	GLikely benign
Select item 2887081	NM_017934.7(PHIP):c.4053+8T>G	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2881269	NM_017934.7(PHIP):c.4653T>C (p.His1551=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2881040	NM_017934.7(PHIP):c.3782+19T>C	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879620	NM_017934.7(PHIP):c.3657-4del	IRAK1BP1, PHIP	Deletion (intron variant)	not provided	GBenign
Select item 2878803	NM_017934.7(PHIP):c.5217_5219del (p.Arg1740del)	IRAK1BP1, PHIP (R1740del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2878129	NM_017934.7(PHIP):c.3903+18T>C	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2875766	NM_017934.7(PHIP):c.4053+13G>T	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2875698	NM_017934.7(PHIP):c.3536-11A>G	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2873257	NM_017934.7(PHIP):c.4908G>A (p.Lys1636=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	PHIP-related condition +1 more	GLikely benign
Select item 2873140	NM_017934.7(PHIP):c.4307C>G (p.Thr1436Ser)	IRAK1BP1, PHIP (T1436S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2872683	NM_017934.7(PHIP):c.3185A>G (p.Lys1062Arg)	IRAK1BP1, PHIP (K1062R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2872287	NM_017934.7(PHIP):c.40+13dup	LOC129996745, PHIP	Duplication (intron variant)	not provided	GBenign
Select item 2872029	NM_017934.7(PHIP):c.40+13G>A	LOC129996745, PHIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871836	NM_017934.7(PHIP):c.4631-7G>A	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871601	NM_017934.7(PHIP):c.5073A>G (p.Thr1691=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870129	NM_017934.7(PHIP):c.3535+18C>T	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2870037	NM_017934.7(PHIP):c.40+11G>A	LOC129996745, PHIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2869827	NM_017934.7(PHIP):c.3426T>C (p.Gly1142=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	PHIP-related condition +1 more	GBenign/Likely benign
Select item 2868533	NM_017934.7(PHIP):c.3535+19G>A	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868234	NM_017934.7(PHIP):c.3957A>T (p.Gln1319His)	IRAK1BP1, PHIP (Q1319H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2867911	NM_017934.7(PHIP):c.3105C>T (p.Gly1035=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867885	NM_017934.7(PHIP):c.3539T>C (p.Ile1180Thr)	IRAK1BP1, PHIP (I1180T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2867875	NM_017934.7(PHIP):c.4631-11G>C	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2867572	NM_017934.7(PHIP):c.4760G>A (p.Arg1587His)	IRAK1BP1, PHIP (R1587H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2865457	NM_017934.7(PHIP):c.2997+8A>C	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2863542	NM_017934.7(PHIP):c.4054-9C>T	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2860518	NM_017934.7(PHIP):c.4081A>T (p.Met1361Leu)	IRAK1BP1, PHIP (M1361L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2851042	NM_017934.7(PHIP):c.4716T>G (p.Asn1572Lys)	IRAK1BP1, PHIP (N1572K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2849782	NM_017934.7(PHIP):c.3960A>G (p.Ala1320=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2844078	NM_017934.7(PHIP):c.4712G>T (p.Arg1571Met)	IRAK1BP1, PHIP (R1571M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2838506	NM_017934.7(PHIP):c.4040T>G (p.Leu1347Arg)	IRAK1BP1, PHIP (L1347R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2836546	NM_017934.7(PHIP):c.3723T>C (p.Pro1241=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2835619	NM_017934.7(PHIP):c.5373G>A (p.Leu1791=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2831576	NM_017934.7(PHIP):c.5154G>A (p.Arg1718=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2831206	NM_017934.7(PHIP):c.3657-6T>A	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2824768	NM_017934.7(PHIP):c.3504T>C (p.Ile1168=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2824048	NM_017934.7(PHIP):c.4474G>A (p.Ala1492Thr)	IRAK1BP1, PHIP (A1492T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2823807	NM_017934.7(PHIP):c.3205+1G>A	IRAK1BP1, PHIP	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2821119	NM_017934.7(PHIP):c.5083C>A (p.Leu1695Ile)	IRAK1BP1, PHIP (L1695I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2815967	NM_017934.7(PHIP):c.2998-5C>T	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2815609	NM_017934.7(PHIP):c.3725G>C (p.Gly1242Ala)	IRAK1BP1, PHIP (G1242A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2813677	NM_017934.7(PHIP):c.2991G>C (p.Glu997Asp)	IRAK1BP1, PHIP (E997D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2810801	NM_017934.7(PHIP):c.4533G>A (p.Val1511=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2808301	NM_017934.7(PHIP):c.3522G>A (p.Gln1174=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2804601	NM_017934.7(PHIP):c.3317+12T>C	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2798583	NM_017934.7(PHIP):c.3211C>T (p.Arg1071Cys)	IRAK1BP1, PHIP (R1071C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2797767	NM_017934.7(PHIP):c.4684G>C (p.Gly1562Arg)	IRAK1BP1, PHIP (G1562R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2796670	NM_017934.7(PHIP):c.2841A>T (p.Thr947=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2794506	NM_017934.7(PHIP):c.4225C>T (p.Arg1409Cys)	IRAK1BP1, PHIP (R1409C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2791382	NM_017934.7(PHIP):c.4949A>G (p.Asn1650Ser)	IRAK1BP1, PHIP (N1650S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2788055	NM_017934.7(PHIP):c.3535+16C>T	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2787895	NM_017934.7(PHIP):c.3255C>A (p.Ile1085=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2785404	NM_017934.7(PHIP):c.4125T>C (p.Tyr1375=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2784646	NM_017934.7(PHIP):c.4892C>T (p.Pro1631Leu)	IRAK1BP1, PHIP (P1631L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2784419	NM_017934.7(PHIP):c.4002A>G (p.Gln1334=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2781260	NM_017934.7(PHIP):c.21C>T (p.Gly7=)	LOC129996745, PHIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2781050	NM_017934.7(PHIP):c.4053+19A>G	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2780968	NM_017934.7(PHIP):c.4450T>C (p.Ser1484Pro)	IRAK1BP1, PHIP (S1484P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2779720	NM_017934.7(PHIP):c.3535+16C>A	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2778724	NM_017934.7(PHIP):c.3141C>T (p.Asp1047=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2778638	NM_017934.7(PHIP):c.3470G>T (p.Gly1157Val)	IRAK1BP1, PHIP (G1157V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2778264	NM_017934.7(PHIP):c.2998-14T>C	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2776483	NM_017934.7(PHIP):c.5181A>G (p.Ala1727=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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