ClinVar for Gene (Select 55023) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 991

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3364882	NM_017934.7(PHIP):c.1860G>C (p.Gln620His)	PHIP (Q620H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364575	NM_017934.7(PHIP):c.1020C>A (p.Ser340Arg)	PHIP (S340R)	Single nucleotide variant (missense 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 3362195	NM_017934.7(PHIP):c.663A>C (p.Leu221Phe)	PHIP (L221F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359901	NM_017934.7(PHIP):c.3206G>C (p.Gly1069Ala)	PHIP (G1069A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359560	NM_017934.7(PHIP):c.1432G>A (p.Asp478Asn)	PHIP (D478N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359518	NM_017934.7(PHIP):c.3640G>C (p.Glu1214Gln)	PHIP (E1214Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359271	NM_017934.7(PHIP):c.4054-10_4054-9insAACA	PHIP	Insertion (intron variant)	not provided	GUncertain significance
Select item 3359039	NM_017934.7(PHIP):c.1879+1G>A	PHIP	Single nucleotide variant (splice donor variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GPathogenic
Select item 3359011	NM_017934.7(PHIP):c.3297_3298del (p.Phe1100fs)	PHIP (F1100fs)	Deletion (frameshift variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GPathogenic
Select item 3358636	NM_017934.7(PHIP):c.333A>G (p.Thr111=)	PHIP	Single nucleotide variant (synonymous variant)	PHIP-related disorder	GLikely benign
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 3358467	NM_017934.7(PHIP):c.924-10dup	PHIP	Duplication (intron variant)	PHIP-related disorder	GLikely benign
Select item 3358218	NM_017934.7(PHIP):c.1389+10A>T	PHIP	Single nucleotide variant (intron variant)	PHIP-related disorder	GLikely benign
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 3357902	NM_017934.7(PHIP):c.1096-4A>G	PHIP	Single nucleotide variant (intron 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 3357690	NM_017934.7(PHIP):c.1659A>T (p.Ala553=)	PHIP	Single nucleotide variant (synonymous variant)	PHIP-related disorder	GLikely benign
Select item 3357656	NM_017934.7(PHIP):c.442G>T (p.Asp148Tyr)	PHIP (D148Y)	Single nucleotide variant (missense variant)	PHIP-related disorder	GUncertain significance
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 3357483	NM_017934.7(PHIP):c.2514A>G (p.Ala838=)	PHIP	Single nucleotide variant (synonymous variant)	PHIP-related disorder	GLikely benign
Select item 3357386	NM_017934.7(PHIP):c.1024G>A (p.Asp342Asn)	PHIP (D342N)	Single nucleotide variant (missense variant)	PHIP-related disorder	GUncertain significance
Select item 3357279	NM_017934.7(PHIP):c.105G>A (p.Leu35=)	PHIP	Single nucleotide variant (synonymous 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 3357206	NM_017934.7(PHIP):c.369T>C (p.Ser123=)	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 3356843	NM_017934.7(PHIP):c.1384C>T (p.Leu462=)	PHIP	Single nucleotide variant (synonymous variant)	PHIP-related disorder	GLikely benign
Select item 3356829	NM_017934.7(PHIP):c.111C>T (p.Arg37=)	PHIP	Single nucleotide variant (synonymous 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 3356664	NM_017934.7(PHIP):c.1005T>G (p.Phe335Leu)	PHIP (F335L)	Single nucleotide variant (missense variant)	PHIP-related disorder	GUncertain significance
Select item 3356501	NM_017934.7(PHIP):c.1210T>C (p.Leu404=)	PHIP	Single nucleotide variant (synonymous variant)	PHIP-related disorder	GLikely benign
Select item 3356383	NM_017934.7(PHIP):c.1703A>T (p.Asp568Val)	PHIP (D568V)	Single nucleotide variant (missense variant)	PHIP-related disorder	GUncertain significance
Select item 3356316	NM_017934.7(PHIP):c.924-3C>T	PHIP	Single nucleotide variant (intron variant)	PHIP-related disorder	GLikely benign
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 3355896	NM_017934.7(PHIP):c.1706C>G (p.Ala569Gly)	PHIP (A569G)	Single nucleotide variant (missense variant)	PHIP-related disorder	GUncertain significance
Select item 3355865	NM_017934.7(PHIP):c.1866A>G (p.Gly622=)	PHIP	Single nucleotide variant (synonymous variant)	PHIP-related disorder	GUncertain significance
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 3355496	NM_017934.7(PHIP):c.694G>A (p.Ala232Thr)	PHIP (A232T)	Single nucleotide variant (missense variant)	PHIP-related disorder	GUncertain significance
Select item 3355432	NM_017934.7(PHIP):c.183G>A (p.Gln61=)	LOC129996744, PHIP	Single nucleotide variant (synonymous variant)	PHIP-related disorder	GLikely benign
Select item 3355308	NM_017934.7(PHIP):c.2715A>G (p.Glu905=)	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 3355205	NM_017934.7(PHIP):c.1240A>C (p.Asn414His)	PHIP (N414H)	Single nucleotide variant (missense variant)	PHIP-related disorder	GUncertain significance
Select item 3355137	NM_017934.7(PHIP):c.2178C>T (p.Pro726=)	PHIP	Single nucleotide variant (synonymous variant)	PHIP-related disorder	GLikely benign
Select item 3355123	NM_017934.7(PHIP):c.2640T>C (p.Ser880=)	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 3354917	NM_017934.7(PHIP):c.1096-7T>C	PHIP	Single nucleotide variant (intron 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 3354778	NM_017934.7(PHIP):c.729A>C (p.Gly243=)	PHIP	Single nucleotide variant (synonymous 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 3354468	NM_017934.7(PHIP):c.177C>T (p.Thr59=)	LOC129996744, 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 3354257	NM_017934.7(PHIP):c.2510G>C (p.Arg837Thr)	PHIP (R837T)	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 3354176	NM_017934.7(PHIP):c.1096-5T>C	PHIP	Single nucleotide variant (intron variant)	PHIP-related disorder	GLikely benign
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 3354000	NM_017934.7(PHIP):c.1036C>T (p.Arg346Trp)	PHIP (R346W)	Single nucleotide variant (missense variant)	PHIP-related disorder	GUncertain significance
Select item 3353951	NM_017934.7(PHIP):c.-6A>G	LOC129996745, PHIP	Single nucleotide variant (5 prime UTR variant)	PHIP-related disorder	GLikely benign
Select item 3353884	NM_017934.7(PHIP):c.2541C>T (p.Asp847=)	PHIP	Single nucleotide variant (synonymous variant)	PHIP-related disorder	GLikely benign
Select item 3353833	NM_017934.7(PHIP):c.828A>T (p.Ser276=)	PHIP	Single nucleotide variant (synonymous 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 3353558	NM_017934.7(PHIP):c.1363A>G (p.Thr455Ala)	PHIP (T455A)	Single nucleotide variant (missense variant)	PHIP-related disorder	GUncertain significance
Select item 3353486	NM_017934.7(PHIP):c.2479G>T (p.Val827Phe)	PHIP (V827F)	Single nucleotide variant (missense variant)	PHIP-related disorder	GUncertain significance
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 3353277	NM_017934.7(PHIP):c.1362C>T (p.Tyr454=)	PHIP	Single nucleotide variant (synonymous variant)	PHIP-related disorder	GLikely benign
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 3352925	NM_017934.7(PHIP):c.897C>G (p.Leu299=)	PHIP	Single nucleotide variant (synonymous variant)	PHIP-related disorder	GLikely benign
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 3351946	NM_017934.7(PHIP):c.1825C>T (p.Arg609Cys)	PHIP (R609C)	Single nucleotide variant (missense variant)	PHIP-related disorder	GUncertain significance
Select item 3351889	NM_017934.7(PHIP):c.137C>T (p.Pro46Leu)	PHIP (P46L)	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 3351721	NM_017934.7(PHIP):c.129+8C>T	PHIP	Single nucleotide variant (intron variant)	PHIP-related disorder	GLikely benign
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 3351529	NM_017934.7(PHIP):c.923+7T>G	PHIP	Single nucleotide variant (intron variant)	PHIP-related disorder	GLikely benign
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 3351058	NM_017934.7(PHIP):c.2715A>T (p.Glu905Asp)	PHIP (E905D)	Single nucleotide variant (missense variant)	PHIP-related disorder	GUncertain significance

<< First< Prev

Page of 10