"PHIP-related condition"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2181425	NM_017934.7(PHIP):c.5465A>G (p.Ter1822=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	PHIP-related condition +1 more	GLikely benign
Select item 978103	NM_017934.7(PHIP):c.5263G>C (p.Glu1755Gln)	IRAK1BP1, PHIP (E1755Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 2635995	NM_017934.7(PHIP):c.5228G>A (p.Arg1743Gln)	IRAK1BP1, PHIP (R1743Q)	Single nucleotide variant (missense variant)	PHIP-related condition	GUncertain significance
Select item 2629520	NM_017934.7(PHIP):c.5209G>A (p.Val1737Met)	IRAK1BP1, PHIP (V1737M)	Single nucleotide variant (missense variant)	PHIP-related condition	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 2636817	NM_017934.7(PHIP):c.5192T>A (p.Val1731Asp)	IRAK1BP1, PHIP (V1731D)	Single nucleotide variant (missense variant)	PHIP-related condition	GUncertain significance
Select item 2166410	NM_017934.7(PHIP):c.4953T>C (p.Ser1651=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	PHIP-related condition +1 more	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 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 2169917	NM_017934.7(PHIP):c.4790C>T (p.Ala1597Val)	IRAK1BP1, PHIP (A1597V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 3061562	NM_017934.7(PHIP):c.4745_4750dup (p.Lys1583_Pro1584insGlnLys)	IRAK1BP1, PHIP	Duplication (inframe insertion)	PHIP-related condition	GUncertain significance
Select item 2632299	NM_017934.7(PHIP):c.4713G>C (p.Arg1571Ser)	IRAK1BP1, PHIP (R1571S)	Single nucleotide variant (missense variant)	PHIP-related condition	GUncertain significance
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 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 2656713	NM_017934.7(PHIP):c.4630A>G (p.Ile1544Val)	IRAK1BP1, PHIP (I1544V)	Single nucleotide variant (missense variant)	PHIP-related condition +1 more	GBenign/Likely benign
Select item 2185868	NM_017934.7(PHIP):c.4585A>C (p.Thr1529Pro)	IRAK1BP1, PHIP (T1529P)	Single nucleotide variant (missense variant)	PHIP-related condition +1 more	GLikely benign
Select item 1030613	NM_017934.7(PHIP):c.4495G>A (p.Glu1499Lys)	IRAK1BP1, PHIP (E1499K)	Single nucleotide variant (missense variant)	PHIP-related condition +1 more	GUncertain significance
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 2173736	NM_017934.7(PHIP):c.4457C>T (p.Pro1486Leu)	IRAK1BP1, PHIP (P1486L)	Single nucleotide variant (missense variant)	PHIP-related condition +1 more	GUncertain significance
Select item 2142348	NM_017934.7(PHIP):c.4323G>T (p.Arg1441Ser)	IRAK1BP1, PHIP (R1441S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2046809	NM_017934.7(PHIP):c.4321A>C (p.Arg1441=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 2160807	NM_017934.7(PHIP):c.4239C>T (p.Phe1413=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	PHIP-related condition +1 more	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 2016200	NM_017934.7(PHIP):c.4207-5C>T	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 786092	NM_017934.7(PHIP):c.4206+5_4206+8del	IRAK1BP1, PHIP	Deletion (intron variant)	PHIP-related condition +1 more	GBenign
Select item 2167856	NM_017934.7(PHIP):c.4206+5A>G	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
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 2187667	NM_017934.7(PHIP):c.4135A>G (p.Met1379Val)	IRAK1BP1, PHIP (M1379V)	Single nucleotide variant (missense variant)	PHIP-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2637250	NM_017934.7(PHIP):c.4120A>T (p.Asn1374Tyr)	IRAK1BP1, PHIP (N1374Y)	Single nucleotide variant (missense variant)	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 3054439	NM_017934.7(PHIP):c.4053+9T>C	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	PHIP-related condition	GLikely benign
Select item 986139	NM_017934.7(PHIP):c.3928C>T (p.Arg1310Cys)	IRAK1BP1, PHIP (R1310C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2055182	NM_017934.7(PHIP):c.3916AGA[2] (p.Arg1308del)	IRAK1BP1, PHIP (R1308del)	Microsatellite (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2635813	NM_017934.7(PHIP):c.3825GAA[2] (p.Lys1278del)	IRAK1BP1, PHIP (K1278del)	Microsatellite (inframe_deletion)	PHIP-related condition	GUncertain significance
Select item 2171729	NM_017934.7(PHIP):c.3815A>G (p.Tyr1272Cys)	IRAK1BP1, PHIP (Y1272C)	Single nucleotide variant (missense variant)	PHIP-related condition +1 more	GLikely benign
Select item 2061236	NM_017934.7(PHIP):c.3805A>G (p.Ile1269Val)	IRAK1BP1, PHIP (I1269V)	Single nucleotide variant (missense variant)	PHIP-related condition +1 more	GUncertain significance
Select item 3033065	NM_017934.7(PHIP):c.3656+1239dup	IRAK1BP1, PHIP	Duplication (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 3030238	NM_017934.7(PHIP):c.3656+1238_3656+1239dup	IRAK1BP1, PHIP	Duplication (intron variant)	PHIP-related condition	GLikely benign
Select item 3058121	NM_017934.7(PHIP):c.3656+1234_3656+1239del	IRAK1BP1, PHIP	Deletion (intron 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 3032953	NM_017934.7(PHIP):c.3656+1239del	IRAK1BP1, PHIP	Deletion (intron variant)	PHIP-related condition	GBenign
Select item 3031131	NM_017934.7(PHIP):c.3656+1236_3656+1239del	IRAK1BP1, PHIP	Deletion (intron variant)	PHIP-related condition	GLikely benign
Select item 1971448	NM_017934.7(PHIP):c.3541G>T (p.Ala1181Ser)	IRAK1BP1, PHIP (A1181S)	Single nucleotide variant (missense variant)	PHIP-related condition +1 more	GConflicting classifications of pathogenicity
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
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 3029282	NM_017934.7(PHIP):c.3333T>C (p.Asp1111=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	PHIP-related condition	GLikely benign
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 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 3029225	NM_017934.7(PHIP):c.3210C>T (p.Asp1070=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	PHIP-related condition	GLikely benign
Select item 2143555	NM_017934.7(PHIP):c.3147A>C (p.Ile1049=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	PHIP-related condition +1 more	GBenign/Likely benign
Select item 2631822	NM_017934.7(PHIP):c.3118A>G (p.Met1040Val)	IRAK1BP1, PHIP (M1040V)	Single nucleotide variant (missense variant)	PHIP-related condition	GUncertain significance
Select item 2413579	NM_017934.7(PHIP):c.3111A>C (p.Ser1037=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2184311	NM_017934.7(PHIP):c.3089C>T (p.Thr1030Ile)	IRAK1BP1, PHIP (T1030I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2629344	NM_017934.7(PHIP):c.2966A>G (p.Lys989Arg)	IRAK1BP1, PHIP (K989R)	Single nucleotide variant (missense variant)	PHIP-related condition +1 more	GUncertain significance
Select item 2087791	NM_017934.7(PHIP):c.2936G>A (p.Arg979Gln)	IRAK1BP1, PHIP (R979Q)	Single nucleotide variant (missense variant)	PHIP-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2069866	NM_017934.7(PHIP):c.2935C>T (p.Arg979Trp)	IRAK1BP1, PHIP (R979W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2167473	NM_017934.7(PHIP):c.2845A>G (p.Thr949Ala)	IRAK1BP1, PHIP (T949A)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2010800	NM_017934.7(PHIP):c.2790A>G (p.Leu930=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	PHIP-related condition +1 more	GLikely benign
Select item 2630007	NM_017934.7(PHIP):c.2710del (p.Glu904fs)	PHIP (E904fs)	Deletion (frameshift variant)	PHIP-related condition	GLikely pathogenic
Select item 2069037	NM_017934.7(PHIP):c.2709T>A (p.Asn903Lys)	PHIP (N903K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2630755	NM_017934.7(PHIP):c.2670_2671del (p.Lys891fs)	PHIP (K891fs)	Deletion (frameshift variant)	PHIP-related condition	GPathogenic
Select item 1257410	NM_017934.7(PHIP):c.2621C>T (p.Thr874Ile)	PHIP (T874I)	Single nucleotide variant (missense variant)	PHIP-related condition +1 more	GBenign
Select item 2414581	NM_017934.7(PHIP):c.2538-3del	PHIP	Deletion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1335631	NM_017934.7(PHIP):c.2538-8C>G	PHIP	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2196960	NM_017934.7(PHIP):c.2496C>G (p.Ser832=)	PHIP	Single nucleotide variant (synonymous variant)	PHIP-related condition +1 more	GLikely benign
Select item 3017637	NM_017934.7(PHIP):c.2470G>A (p.Val824Ile)	PHIP (V824I)	Single nucleotide variant (missense variant)	PHIP-related condition +1 more	GUncertain significance
Select item 2900853	NM_017934.7(PHIP):c.2461-5C>T	PHIP	Single nucleotide variant (intron variant)	PHIP-related condition +1 more	GLikely benign
Select item 2632825	NM_017934.7(PHIP):c.2434A>G (p.Ile812Val)	PHIP (I812V)	Single nucleotide variant (missense variant)	PHIP-related condition	GUncertain significance
Select item 1980456	NM_017934.7(PHIP):c.2382C>T (p.His794=)	PHIP	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2636935	NM_017934.7(PHIP):c.2320-2A>G	PHIP	Single nucleotide variant (splice acceptor variant)	PHIP-related condition	GLikely pathogenic
Select item 1977259	NM_017934.7(PHIP):c.2311G>A (p.Val771Ile)	PHIP (V771I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1336139	NM_017934.7(PHIP):c.2256G>A (p.Arg752=)	PHIP	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 2050477	NM_017934.7(PHIP):c.2201+6G>A	PHIP	Single nucleotide variant (intron variant)	PHIP-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2046810	NM_017934.7(PHIP):c.2148G>T (p.Leu716=)	PHIP	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3046129	NM_017934.7(PHIP):c.2067A>G (p.Leu689=)	PHIP	Single nucleotide variant (synonymous variant)	PHIP-related condition	GLikely benign
Select item 2037278	NM_017934.7(PHIP):c.2040G>C (p.Glu680Asp)	PHIP (E680D)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2628822	NM_017934.7(PHIP):c.2021C>T (p.Ser674Phe)	PHIP (S674F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2140083	NM_017934.7(PHIP):c.2017+6C>T	PHIP	Single nucleotide variant (intron variant)	PHIP-related condition +1 more	GConflicting classifications of pathogenicity
Select item 1940040	NM_017934.7(PHIP):c.1971A>G (p.Arg657=)	PHIP	Single nucleotide variant (synonymous variant)	PHIP-related condition +1 more	GBenign/Likely benign
Select item 3033997	NM_017934.7(PHIP):c.1635C>T (p.Ser545=)	PHIP	Single nucleotide variant (synonymous variant)	PHIP-related condition	GLikely benign
Select item 3049881	NM_017934.7(PHIP):c.1632G>A (p.Gly544=)	PHIP	Single nucleotide variant (synonymous variant)	PHIP-related condition	GLikely benign
Select item 1571446	NM_017934.7(PHIP):c.1235+9T>A	PHIP	Single nucleotide variant (intron variant)	PHIP-related condition +1 more	GBenign
Select item 2377441	NM_017934.7(PHIP):c.1228C>G (p.Pro410Ala)	PHIP (P410A)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1686057	NM_017934.7(PHIP):c.1186C>T (p.Arg396Ter)	PHIP (R396*)	Single nucleotide variant (nonsense)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome +2 more	GPathogenic/Likely pathogenic
Select item 2632190	NM_017934.7(PHIP):c.1103T>G (p.Val368Gly)	PHIP (V368G)	Single nucleotide variant (missense variant)	PHIP-related condition	GUncertain significance
Select item 2199838	NM_017934.7(PHIP):c.1013C>T (p.Thr338Met)	PHIP (T338M)	Single nucleotide variant (missense variant)	PHIP-related condition +1 more	GUncertain significance
Select item 2783853	NM_017934.7(PHIP):c.1006C>T (p.Leu336=)	PHIP	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3030157	NM_017934.7(PHIP):c.995-10T>C	PHIP	Single nucleotide variant (intron variant)	PHIP-related condition	GLikely benign
Select item 3051569	NM_017934.7(PHIP):c.994+8T>G	PHIP	Single nucleotide variant (intron variant)	PHIP-related condition	GLikely benign
Select item 2055151	NM_017934.7(PHIP):c.924-7A>G	PHIP	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2184310	NM_017934.7(PHIP):c.858A>G (p.Leu286=)	PHIP	Single nucleotide variant (synonymous variant)	PHIP-related condition +1 more	GBenign/Likely benign
Select item 1336136	NM_017934.7(PHIP):c.723A>G (p.Ala241=)	PHIP	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 3029380	NM_017934.7(PHIP):c.715A>G (p.Met239Val)	PHIP (M239V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3058005	NM_017934.7(PHIP):c.696T>C (p.Ala232=)	PHIP	Single nucleotide variant (synonymous variant)	PHIP-related condition	GLikely benign
Select item 2079020	NM_017934.7(PHIP):c.603T>C (p.Gly201=)	PHIP	Single nucleotide variant (synonymous variant)	PHIP-related condition +1 more	GLikely benign
Select item 2722847	NM_017934.7(PHIP):c.601-4T>G	PHIP	Single nucleotide variant (intron variant)	PHIP-related condition +1 more	GBenign/Likely benign

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