55023[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154460	GRCh38/hg38 6q12-14.2(chr6:64549655-83426791)x1	ADGRB3, ADGRB3-DT +310 more	Copy number loss	See cases	GPathogenic
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 155438	GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1	AKIRIN2, ANKRD6 +299 more	Copy number loss	See cases	GPathogenic
Select item 155132	GRCh38/hg38 6q14.1(chr6:78661176-80245532)x1	BCKDHB, ELOVL4 +27 more	Copy number loss	See cases	GUncertain significance
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 3353644	NM_017934.7(PHIP):c.*7C>T	IRAK1BP1, PHIP	Single nucleotide variant (3 prime UTR variant)	PHIP-related disorder	GLikely benign
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 1310666	NM_017934.7(PHIP):c.5422C>T (p.Arg1808Ter)	IRAK1BP1, PHIP (R1808*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
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 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 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 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 2043255	NM_017934.7(PHIP):c.5286T>G (p.Ser1762=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1691495	NM_017934.7(PHIP):c.5269G>T (p.Glu1757Ter)	IRAK1BP1, PHIP (E1757*)	Single nucleotide variant (nonsense)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GUncertain significance
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)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2441902	NM_017934.7(PHIP):c.5255A>T (p.Glu1752Val)	IRAK1BP1, PHIP (E1752V)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GUncertain significance
Select item 3350833	NM_017934.7(PHIP):c.5237T>C (p.Ile1746Thr)	IRAK1BP1, PHIP (I1746T)	Single nucleotide variant (missense variant)	PHIP-related disorder	GUncertain significance
Select item 2635995	NM_017934.7(PHIP):c.5228G>A (p.Arg1743Gln)	IRAK1BP1, PHIP (R1743Q)	Single nucleotide variant (missense variant)	PHIP-related disorder	GUncertain significance
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 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 2629520	NM_017934.7(PHIP):c.5209G>A (p.Val1737Met)	IRAK1BP1, PHIP (V1737M)	Single nucleotide variant (missense variant)	PHIP-related disorder +1 more	GUncertain significance
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 2636817	NM_017934.7(PHIP):c.5192T>A (p.Val1731Asp)	IRAK1BP1, PHIP (V1731D)	Single nucleotide variant (missense variant)	PHIP-related disorder	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
Select item 2720057	NM_017934.7(PHIP):c.5180C>T (p.Ala1727Val)	IRAK1BP1, PHIP (A1727V)	Single nucleotide variant (missense variant)	not provided	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 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 2831576	NM_017934.7(PHIP):c.5154G>A (p.Arg1718=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3349312	NM_017934.7(PHIP):c.5152A>C (p.Arg1718=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	PHIP-related disorder	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 2560246	NM_017934.7(PHIP):c.5132G>A (p.Arg1711His)	IRAK1BP1, PHIP (R1711H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3343321	NM_017934.7(PHIP):c.5131C>G (p.Arg1711Gly)	IRAK1BP1, PHIP (R1711G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3348892	NM_017934.7(PHIP):c.5120A>C (p.Gln1707Pro)	IRAK1BP1, PHIP (Q1707P)	Single nucleotide variant (missense variant)	PHIP-related disorder	GUncertain significance
Select item 2434695	NM_017934.7(PHIP):c.5112T>G (p.Asp1704Glu)	IRAK1BP1, PHIP (D1704E)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GUncertain significance
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 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 2663247	NM_017934.7(PHIP):c.5078A>G (p.Asn1693Ser)	IRAK1BP1, PHIP (N1693S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2603870	NM_017934.7(PHIP):c.5054_5063delinsGGATT (p.Glu1685fs)	IRAK1BP1, PHIP (E1685fs)	Indel (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2551911	NM_017934.7(PHIP):c.5057T>G (p.Val1686Gly)	IRAK1BP1, PHIP (V1686G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 1701835	NM_017934.7(PHIP):c.5021del (p.Asp1673_Leu1674insTer)	IRAK1BP1, PHIP	Deletion (nonsense)	Neurodevelopmental disorder	GUncertain significance
Select item 2637598	NM_017934.7(PHIP):c.5019_5020insG (p.Leu1674fs)	IRAK1BP1, PHIP (L1674fs)	Insertion (frameshift variant)	not specified	GUncertain significance
Select item 2434691	NM_017934.7(PHIP):c.5020T>G (p.Leu1674Val)	IRAK1BP1, PHIP (L1674V)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	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 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 2664252	NM_017934.7(PHIP):c.4979del (p.Gly1660fs)	IRAK1BP1, PHIP (G1660fs)	Deletion (frameshift variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GLikely pathogenic
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 2444817	NM_017934.7(PHIP):c.4927C>T (p.Pro1643Ser)	IRAK1BP1, PHIP (P1643S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2093431	NM_017934.7(PHIP):c.4926A>G (p.Lys1642=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	not provided	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 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 2656712	NM_017934.7(PHIP):c.4846G>T (p.Ala1616Ser)	IRAK1BP1, PHIP (A1616S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3036717	NM_017934.7(PHIP):c.4835G>C (p.Cys1612Ser)	IRAK1BP1, PHIP (C1612S)	Single nucleotide variant (missense variant)	PHIP-related disorder	GUncertain significance
Select item 1265741	NM_017934.7(PHIP):c.4828+217del	IRAK1BP1, PHIP	Deletion (intron variant)	not provided	GBenign
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 3057797	NM_017934.7(PHIP):c.4783C>T (p.Pro1595Ser)	IRAK1BP1, PHIP (P1595S)	Single nucleotide variant (missense variant)	PHIP-related disorder	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 2443538	NM_017934.7(PHIP):c.4760G>C (p.Arg1587Pro)	IRAK1BP1, PHIP (R1587P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3347728	NM_017934.7(PHIP):c.4751C>A (p.Pro1584Gln)	IRAK1BP1, PHIP (P1584Q)	Single nucleotide variant (missense variant)	PHIP-related disorder	GUncertain significance
Select item 3061562	NM_017934.7(PHIP):c.4745_4750dup (p.Lys1583_Pro1584insGlnLys)	IRAK1BP1, PHIP	Duplication	PHIP-related disorder	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 2632299	NM_017934.7(PHIP):c.4713G>C (p.Arg1571Ser)	IRAK1BP1, PHIP (R1571S)	Single nucleotide variant (missense variant)	PHIP-related disorder	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 3344223	NM_017934.7(PHIP):c.4705G>A (p.Gly1569Ser)	IRAK1BP1, PHIP (G1569S)	Single nucleotide variant (missense variant)	PHIP-related disorder	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 2216370	NM_017934.7(PHIP):c.4691C>A (p.Ser1564Tyr)	IRAK1BP1, PHIP (S1564Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3041792	NM_017934.7(PHIP):c.4683T>C (p.Pro1561=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	PHIP-related disorder	GLikely benign
Select item 3347950	NM_017934.7(PHIP):c.4667A>G (p.Asn1556Ser)	IRAK1BP1, PHIP (N1556S)	Single nucleotide variant (missense variant)	PHIP-related disorder	GUncertain significance
Select item 3058863	NM_017934.7(PHIP):c.4664T>G (p.Leu1555Trp)	IRAK1BP1, PHIP (L1555W)	Single nucleotide variant (missense variant)	PHIP-related disorder	GUncertain significance
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 1030615	NM_017934.7(PHIP):c.4661C>T (p.Ala1554Val)	IRAK1BP1, PHIP (A1554V)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GUncertain significance
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 2881269	NM_017934.7(PHIP):c.4653T>C (p.His1551=)	IRAK1BP1, PHIP	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance

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