"GeneDx"[submitter] AND "PHIP"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1282121	NM_017934.7(PHIP):c.*179TA[7]	IRAK1BP1, PHIP	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 1235438	NM_017934.7(PHIP):c.*179TA[8]	IRAK1BP1, PHIP	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 1310666	NM_017934.7(PHIP):c.5422C>T (p.Arg1808Ter)	IRAK1BP1, PHIP (R1808*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 523826	NM_017934.7(PHIP):c.5317C>T (p.Arg1773Ter)	IRAK1BP1, PHIP (R1773*)	Single nucleotide variant (nonsense)	not provided	GConflicting classifications of pathogenicity
Select item 523818	NM_017934.7(PHIP):c.5227C>T (p.Arg1743Ter)	IRAK1BP1, PHIP (R1743*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2663247	NM_017934.7(PHIP):c.5078A>G (p.Asn1693Ser)	IRAK1BP1, PHIP (N1693S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2506614	NM_017934.7(PHIP):c.5009A>T (p.Lys1670Met)	IRAK1BP1, PHIP (K1670M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 794565	NM_017934.7(PHIP):c.4941T>A (p.Val1647=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2444817	NM_017934.7(PHIP):c.4927C>T (p.Pro1643Ser)	IRAK1BP1, PHIP (P1643S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1265741	NM_017934.7(PHIP):c.4828+217del	IRAK1BP1, PHIP	Deletion (intron variant)	not provided	GBenign
Select item 2443538	NM_017934.7(PHIP):c.4760G>C (p.Arg1587Pro)	IRAK1BP1, PHIP (R1587P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574482	NM_017934.7(PHIP):c.4697T>G (p.Phe1566Cys)	IRAK1BP1, PHIP (F1566C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1248069	NM_017934.7(PHIP):c.4630+241C>T	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1311283	NM_017934.7(PHIP):c.4519A>G (p.Arg1507Gly)	IRAK1BP1, PHIP (R1507G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 817787	NM_017934.7(PHIP):c.4495_4496del (p.Glu1499fs)	PHIP, IRAK1BP1 (E1499fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 450225	NM_017934.7(PHIP):c.4402C>T (p.Gln1468Ter)	IRAK1BP1, PHIP (Q1468*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1227137	NM_017934.7(PHIP):c.4236T>A (p.Ala1412=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1235685	NM_017934.7(PHIP):c.4228C>T (p.Leu1410=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome +1 more	GBenign
Select item 1224596	NM_017934.7(PHIP):c.4207-10del	IRAK1BP1, PHIP	Deletion (intron variant)	not provided	GBenign
Select item 1278955	NM_017934.7(PHIP):c.4206+298G>A	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 432452	NM_017934.7(PHIP):c.4206G>T (p.Arg1402Ser)	IRAK1BP1, PHIP (R1402S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1803428	NM_017934.7(PHIP):c.4153_4155delinsTTT (p.Val1385Phe)	IRAK1BP1, PHIP (V1385F)	Indel (missense variant)	not provided	GUncertain significance
Select item 1237173	NM_017934.7(PHIP):c.4155C>T (p.Val1385=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1274704	NM_017934.7(PHIP):c.4054-184dup	IRAK1BP1, PHIP	Duplication (intron variant)	not provided	GBenign
Select item 1281586	NM_017934.7(PHIP):c.4053+91A>G	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1684132	NM_017934.7(PHIP):c.4031C>T (p.Pro1344Leu)	IRAK1BP1, PHIP (P1344L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 817578	NM_017934.7(PHIP):c.3947dup (p.Tyr1316Ter)	IRAK1BP1, PHIP (Y1316*)	Duplication (nonsense)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1260718	NM_017934.7(PHIP):c.3904-68A>G	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1800637	NM_017934.7(PHIP):c.3853-13T>G	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1266127	NM_017934.7(PHIP):c.3852+131del	IRAK1BP1, PHIP	Deletion (intron variant)	not provided	GBenign
Select item 1229629	NM_017934.7(PHIP):c.3852+120A>T	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1700481	NM_017934.7(PHIP):c.3801_3805del (p.Ile1268fs)	IRAK1BP1, PHIP (I1268fs)	Deletion (frameshift variant)	not provided	GPathogenic
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 487351	NM_017934.7(PHIP):c.3706C>T (p.Arg1236Ter)	IRAK1BP1, PHIP (R1236*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1314211	NM_017934.7(PHIP):c.3656+3T>C	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2503189	NM_017934.7(PHIP):c.3614A>T (p.Asp1205Val)	IRAK1BP1, PHIP (D1205V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2236280	NM_017934.7(PHIP):c.3578A>G (p.Tyr1193Cys)	IRAK1BP1, PHIP (Y1193C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2429670	NM_017934.7(PHIP):c.3562G>A (p.Val1188Met)	PHIP, IRAK1BP1 (V1188M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1230624	NM_017934.7(PHIP):c.3536-206A>G	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275676	NM_017934.7(PHIP):c.3535+292T>C	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2501968	NM_017934.7(PHIP):c.3460G>T (p.Gly1154Ter)	IRAK1BP1, PHIP (G1154*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1708912	NM_017934.7(PHIP):c.3310A>G (p.Asn1104Asp)	IRAK1BP1, PHIP (N1104D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1229592	NM_017934.7(PHIP):c.3278T>C (p.Leu1093Pro)	IRAK1BP1, PHIP (L1093P)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1254571	NM_017934.7(PHIP):c.3206-289C>T	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1526063	NM_017934.7(PHIP):c.3193C>T (p.Arg1065Ter)	IRAK1BP1, PHIP (R1065*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1226668	NM_017934.7(PHIP):c.3180T>C (p.Asp1060=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome +1 more	GBenign
Select item 2428907	NM_017934.7(PHIP):c.3142G>A (p.Val1048Ile)	IRAK1BP1, PHIP (V1048I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1282829	NM_017934.7(PHIP):c.2998-173A>G	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2575557	NM_017934.7(PHIP):c.2921A>G (p.Tyr974Cys)	IRAK1BP1, PHIP (Y974C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312345	NM_017934.7(PHIP):c.2918C>T (p.Ala973Val)	IRAK1BP1, PHIP (A973V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1704800	NM_017934.7(PHIP):c.2903G>A (p.Arg968Gln)	IRAK1BP1, PHIP (R968Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 523846	NM_017934.7(PHIP):c.2902C>T (p.Arg968Ter)	IRAK1BP1, PHIP (R968*)	Single nucleotide variant (nonsense)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome +1 more	GPathogenic/Likely pathogenic
Select item 450681	NM_017934.7(PHIP):c.2890-8T>G	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 2502104	NM_017934.7(PHIP):c.2889G>C (p.Glu963Asp)	IRAK1BP1, PHIP (E963D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2412834	NM_017934.7(PHIP):c.2885A>C (p.Asp962Ala)	IRAK1BP1, PHIP (D962A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 978399	NM_017934.7(PHIP):c.2854C>T (p.Arg952Ter)	IRAK1BP1, PHIP (R952*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1239852	NM_017934.7(PHIP):c.2832A>G (p.Thr944=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome +1 more	GBenign
Select item 1255347	NM_017934.7(PHIP):c.2769+204T>G	PHIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 817994	NM_017934.7(PHIP):c.2759_2762del (p.Arg920fs)	PHIP (R920fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2446509	NM_017934.7(PHIP):c.2714A>T (p.Glu905Val)	PHIP (E905V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1722952	NM_017934.7(PHIP):c.2656G>T (p.Glu886Ter)	PHIP (E886*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2661945	NM_017934.7(PHIP):c.2630C>G (p.Ala877Gly)	PHIP (A877G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1257410	NM_017934.7(PHIP):c.2621C>T (p.Thr874Ile)	PHIP (T874I)	Single nucleotide variant (missense variant)	PHIP-related disorder +1 more	GBenign
Select item 1246565	NM_017934.7(PHIP):c.2537+55dup	PHIP	Duplication (intron variant)	not provided	GBenign
Select item 1273475	NM_017934.7(PHIP):c.2537+40G>A	PHIP	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1267191	NM_017934.7(PHIP):c.2461-179T>C	PHIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295115	NM_017934.7(PHIP):c.2460+71C>T	PHIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1307750	NM_017934.7(PHIP):c.2397A>T (p.Arg799Ser)	PHIP (R799S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1683986	NM_017934.7(PHIP):c.2359A>C (p.Lys787Gln)	PHIP (K787Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442506	NM_017934.7(PHIP):c.2336A>G (p.His779Arg)	PHIP (H779R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1276386	NM_017934.7(PHIP):c.2320-314G>A	PHIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286143	NM_017934.7(PHIP):c.2320-316A>G	PHIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248431	NM_017934.7(PHIP):c.2319+260C>G	PHIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 423438	NM_017934.7(PHIP):c.2304A>G (p.Ile768Met)	PHIP (I768M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1286935	NM_017934.7(PHIP):c.2202-278A>G	PHIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2580740	NM_017934.7(PHIP):c.2071C>T (p.Arg691Cys)	PHIP (R691C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1241919	NM_017934.7(PHIP):c.2018-271A>G	PHIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228892	NM_017934.7(PHIP):c.2017+231A>G	PHIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179564	NM_017934.7(PHIP):c.2017+48G>A	PHIP	Single nucleotide variant (intron variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome +1 more	GBenign
Select item 2577759	NM_017934.7(PHIP):c.1983A>C (p.Glu661Asp)	PHIP (E661D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1321645	NM_017934.7(PHIP):c.1976C>G (p.Ser659Cys)	PHIP (S659C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2272631	NM_017934.7(PHIP):c.1912C>G (p.Gln638Glu)	PHIP (Q638E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2442692	NM_017934.7(PHIP):c.1802G>T (p.Arg601Ile)	PHIP (R601I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1223939	NM_017934.7(PHIP):c.1654-131T>C	PHIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2579433	NM_017934.7(PHIP):c.1644A>C (p.Lys548Asn)	PHIP (K548N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 627526	NM_017934.7(PHIP):c.1562A>G (p.Lys521Arg)	PHIP (K521R)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 1230536	NM_017934.7(PHIP):c.1524+59G>T	PHIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246371	NM_017934.7(PHIP):c.1389+118G>A	PHIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 424321	NM_017934.7(PHIP):c.1342_1343del (p.Leu448fs)	PHIP (L448fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1310317	NM_017934.7(PHIP):c.1339A>G (p.Thr447Ala)	PHIP (T447A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313333	NM_017934.7(PHIP):c.1319T>C (p.Ile440Thr)	PHIP (I440T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2581892	NM_017934.7(PHIP):c.1256A>G (p.Glu419Gly)	PHIP (E419G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1308130	NM_017934.7(PHIP):c.1168C>T (p.Arg390Cys)	PHIP (R390C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1231189	NM_017934.7(PHIP):c.1136+313A>T	PHIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1702574	NM_017934.7(PHIP):c.1039G>A (p.Val347Ile)	PHIP (V347I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1235308	NM_017934.7(PHIP):c.923+205dup	PHIP	Duplication (intron variant)	not provided	GBenign
Select item 872609	NM_017934.7(PHIP):c.919_923del (p.Ile307fs)	PHIP (I307fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 426892	NM_017934.7(PHIP):c.860C>A (p.Ser287Tyr)	PHIP (S287Y)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome +1 more	GLikely pathogenic
Select item 523912	NM_017934.7(PHIP):c.855T>A (p.Tyr285Ter)	PHIP (Y285*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic

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