"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "IRAK1BP - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 207

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2786344	NM_001010844.4(IRAK1BP1):c.381+11_381+12insTCTTA	IRAK1BP1	Insertion (intron variant)	not provided	GBenign
Select item 646403	NC_000006.12:g.(?_78940693)_(78970888_?)del	IRAK1BP1, PHIP	Deletion	not provided	GUncertain significance
Select item 2181425	NM_017934.7(PHIP):c.5465A>G (p.Ter1822=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2428317	NM_017934.7(PHIP):c.5377G>A (p.Glu1793Lys)	IRAK1BP1, PHIP (E1793K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2731919	NM_017934.7(PHIP):c.5311C>G (p.Gln1771Glu)	IRAK1BP1, PHIP (Q1771E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2693610	NM_017934.7(PHIP):c.5303C>T (p.Thr1768Ile)	IRAK1BP1, PHIP (T1768I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2043255	NM_017934.7(PHIP):c.5286T>G (p.Ser1762=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2776234	NM_017934.7(PHIP):c.5268T>G (p.Phe1756Leu)	IRAK1BP1, PHIP (F1756L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 978103	NM_017934.7(PHIP):c.5263G>C (p.Glu1755Gln)	IRAK1BP1, PHIP (E1755Q)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2878803	NM_017934.7(PHIP):c.5217_5219del (p.Arg1740del)	IRAK1BP1, PHIP (R1740del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1978102	NM_017934.7(PHIP):c.5211G>A (p.Val1737=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013982	NM_017934.7(PHIP):c.5193C>G (p.Val1731=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2776483	NM_017934.7(PHIP):c.5181A>G (p.Ala1727=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2720057	NM_017934.7(PHIP):c.5180C>T (p.Ala1727Val)	IRAK1BP1, PHIP (A1727V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 2075204	NM_017934.7(PHIP):c.5136A>C (p.Gly1712=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 1721680	NM_017934.7(PHIP):c.5083C>T (p.Leu1695Phe)	IRAK1BP1, PHIP (L1695F)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2114959	NM_017934.7(PHIP):c.4956T>A (p.Gly1652=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2166410	NM_017934.7(PHIP):c.4953T>C (p.Ser1651=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 1982278	NM_017934.7(PHIP):c.4939G>A (p.Val1647Ile)	IRAK1BP1, PHIP (V1647I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2093431	NM_017934.7(PHIP):c.4926A>G (p.Lys1642=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2873257	NM_017934.7(PHIP):c.4908G>A (p.Lys1636=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2129932	NM_017934.7(PHIP):c.4902T>G (p.Leu1634=)	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 3015750	NM_017934.7(PHIP):c.4885G>A (p.Gly1629Arg)	IRAK1BP1, PHIP (G1629R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1980084	NM_017934.7(PHIP):c.4878C>T (p.Gly1626=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2187205	NM_017934.7(PHIP):c.4849C>T (p.Leu1617Phe)	IRAK1BP1, PHIP (L1617F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2428414	NM_017934.7(PHIP):c.4847C>T (p.Ala1616Val)	IRAK1BP1, PHIP (A1616V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2434692	NM_017934.7(PHIP):c.4846G>A (p.Ala1616Thr)	IRAK1BP1, PHIP (A1616T)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2074602	NM_017934.7(PHIP):c.4845C>T (p.Asn1615=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1994320	NM_017934.7(PHIP):c.4828+4_4828+8del	IRAK1BP1, PHIP	Microsatellite (splice donor variant)	not provided	GUncertain significance
Select item 2065257	NM_017934.7(PHIP):c.4828+5G>A	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1985014	NM_017934.7(PHIP):c.4791G>A (p.Ala1597=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2169917	NM_017934.7(PHIP):c.4790C>T (p.Ala1597Val)	IRAK1BP1, PHIP (A1597V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 2851042	NM_017934.7(PHIP):c.4716T>G (p.Asn1572Lys)	IRAK1BP1, PHIP (N1572K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2175363	NM_017934.7(PHIP):c.4689A>G (p.Gln1563=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2881269	NM_017934.7(PHIP):c.4653T>C (p.His1551=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2871836	NM_017934.7(PHIP):c.4631-7G>A	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2867875	NM_017934.7(PHIP):c.4631-11G>C	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2123497	NM_017934.7(PHIP):c.4630+20T>C	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2656713	NM_017934.7(PHIP):c.4630A>G (p.Ile1544Val)	IRAK1BP1, PHIP (I1544V)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2185868	NM_017934.7(PHIP):c.4585A>C (p.Thr1529Pro)	IRAK1BP1, PHIP (T1529P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2904178	NM_017934.7(PHIP):c.4572T>A (p.Ser1524=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2182058	NM_017934.7(PHIP):c.4563A>G (p.Pro1521=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2499019	NM_017934.7(PHIP):c.4516A>G (p.Thr1506Ala)	IRAK1BP1, PHIP (T1506A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2077205	NM_017934.7(PHIP):c.4489A>G (p.Lys1497Glu)	IRAK1BP1, PHIP (K1497E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2824048	NM_017934.7(PHIP):c.4474G>A (p.Ala1492Thr)	IRAK1BP1, PHIP (A1492T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2015491	NM_017934.7(PHIP):c.4473T>C (p.Ala1491=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2159430	NM_017934.7(PHIP):c.4469A>G (p.Asn1490Ser)	IRAK1BP1, PHIP (N1490S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1979908	NM_017934.7(PHIP):c.4458G>A (p.Pro1486=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2173736	NM_017934.7(PHIP):c.4457C>T (p.Pro1486Leu)	IRAK1BP1, PHIP (P1486L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2081972	NM_017934.7(PHIP):c.4441C>G (p.Pro1481Ala)	IRAK1BP1, PHIP (P1481A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2729830	NM_017934.7(PHIP):c.4426T>G (p.Ser1476Ala)	IRAK1BP1, PHIP (S1476A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2027214	NM_017934.7(PHIP):c.4374T>C (p.Pro1458=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2001244	NM_017934.7(PHIP):c.4370+18_4370+19insC	IRAK1BP1, PHIP	Insertion (intron variant)	not provided	GBenign
Select item 1976267	NM_017934.7(PHIP):c.4336A>G (p.Arg1446Gly)	IRAK1BP1, PHIP (R1446G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2142348	NM_017934.7(PHIP):c.4323G>T (p.Arg1441Ser)	IRAK1BP1, PHIP (R1441S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2046809	NM_017934.7(PHIP):c.4321A>C (p.Arg1441=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2091930	NM_017934.7(PHIP):c.4288C>T (p.Arg1430Cys)	IRAK1BP1, PHIP (R1430C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2015827	NM_017934.7(PHIP):c.4253_4255del (p.Ile1418del)	IRAK1BP1, PHIP (I1418del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2160807	NM_017934.7(PHIP):c.4239C>T (p.Phe1413=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1227137	NM_017934.7(PHIP):c.4236T>A (p.Ala1412=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome +1 more	GBenign
Select item 2099221	NM_017934.7(PHIP):c.4227_4228delinsTT (p.Arg1409_Leu1410=)	IRAK1BP1, PHIP	Indel (synonymous variant)	not provided	GUncertain significance
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 2794506	NM_017934.7(PHIP):c.4225C>T (p.Arg1409Cys)	IRAK1BP1, PHIP (R1409C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2016200	NM_017934.7(PHIP):c.4207-5C>T	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2190320	NM_017934.7(PHIP):c.4207-7dup	IRAK1BP1, PHIP	Duplication (intron variant)	not provided	GLikely benign
Select item 2196650	NM_017934.7(PHIP):c.4207-10dup	IRAK1BP1, PHIP	Duplication (intron variant)	not provided	GBenign
Select item 2036349	NM_017934.7(PHIP):c.4207-11_4207-10dup	IRAK1BP1, PHIP	Duplication (intron variant)	not provided	GBenign
Select item 1224596	NM_017934.7(PHIP):c.4207-10del	IRAK1BP1, PHIP	Deletion (intron variant)	not provided	GBenign
Select item 2099594	NM_017934.7(PHIP):c.4207-19T>C	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2115266	NM_017934.7(PHIP):c.4206+13A>C	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 786092	NM_017934.7(PHIP):c.4206+5_4206+8del	IRAK1BP1, PHIP	Deletion (intron variant)	not provided	GBenign
Select item 2167856	NM_017934.7(PHIP):c.4206+5A>G	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	PHIP-related disorder +1 more	GUncertain significance
Select item 1237173	NM_017934.7(PHIP):c.4155C>T (p.Val1385=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome +1 more	GBenign
Select item 2187667	NM_017934.7(PHIP):c.4135A>G (p.Met1379Val)	IRAK1BP1, PHIP (M1379V)	Single nucleotide variant (missense variant)	PHIP-related disorder +1 more	GConflicting classifications of pathogenicity
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 2212699	NM_017934.7(PHIP):c.4096G>A (p.Val1366Ile)	IRAK1BP1, PHIP (V1366I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 2092250	NM_017934.7(PHIP):c.4054-5C>T	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2715122	NM_017934.7(PHIP):c.4054-7C>T	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 1971579	NM_017934.7(PHIP):c.4054-12T>A	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2781050	NM_017934.7(PHIP):c.4053+19A>G	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 2887081	NM_017934.7(PHIP):c.4053+8T>G	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2189058	NM_017934.7(PHIP):c.4053+8T>C	IRAK1BP1, PHIP	Single nucleotide variant (intron variant)	not provided	GLikely benign

<< First< Prev

Page of 3