19687[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57877	GRCh38/hg38 15q13.3-15.1(chr15:32635803-40233825)x1	ACTC1, AQR +219 more	Copy number loss	See cases	GPathogenic
Select item 58352	GRCh38/hg38 15q14-15.1(chr15:39710935-40294591)x3	ANKRD63, BMF +47 more	Copy number gain	See cases	GUncertain significance
Select item 1280084	NC_000015.10:g.39933819G>A	EIF2AK4	Single nucleotide variant	not provided	GBenign
Select item 1219356	NC_000015.10:g.39933821G>A	EIF2AK4	Single nucleotide variant	not provided	GLikely benign
Select item 1200999	NC_000015.10:g.39933839G>A	EIF2AK4, LOC130056812	Single nucleotide variant	not provided	GLikely benign
Select item 1275166	NC_000015.10:g.39934090G>A	EIF2AK4, LOC130056813	Single nucleotide variant	not provided	GBenign
Select item 674658	NM_001013703.3(EIF2AK4):c.-103A>G	EIF2AK4, LOC130056813	Single nucleotide variant	not provided	GBenign
Select item 993783	NM_001013703.4(EIF2AK4):c.-12C>A	EIF2AK4, LOC130056813	Single nucleotide variant (5 prime UTR variant)	Familial pulmonary capillary hemangiomatosis	GBenign
Select item 1436783	NM_001013703.4(EIF2AK4):c.11G>C (p.Gly4Ala)	EIF2AK4, LOC130056813 (G4A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2236074	NM_001013703.4(EIF2AK4):c.41A>C (p.Glu14Ala)	EIF2AK4, LOC130056813 (E14A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3087888	NM_001013703.4(EIF2AK4):c.47C>T (p.Pro16Leu)	EIF2AK4, LOC130056813 (P16L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1559782	NM_001013703.4(EIF2AK4):c.48G>A (p.Pro16=)	LOC130056813, EIF2AK4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 618617	NM_001013703.4(EIF2AK4):c.60G>A (p.Pro20=)	EIF2AK4, LOC130056813	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 744640	NM_001013703.4(EIF2AK4):c.75C>T (p.His25=)	EIF2AK4, LOC130056813	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 995682	NM_001013703.4(EIF2AK4):c.82C>T (p.Gln28Ter)	EIF2AK4, LOC130056813 (Q28*)	Single nucleotide variant (nonsense)	Familial pulmonary capillary hemangiomatosis	GLikely pathogenic
Select item 1937390	NM_001013703.4(EIF2AK4):c.87C>T (p.Ala29=)	EIF2AK4, LOC130056813	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 381178	NM_001013703.4(EIF2AK4):c.99T>C (p.Ile33=)	EIF2AK4, LOC130056813	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1913609	NM_001013703.4(EIF2AK4):c.102C>T (p.Tyr34=)	EIF2AK4, LOC130056813	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2317732	NM_001013703.4(EIF2AK4):c.106G>T (p.Ala36Ser)	EIF2AK4, LOC130056813 (A36S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3087872	NM_001013703.4(EIF2AK4):c.115C>G (p.Gln39Glu)	EIF2AK4, LOC130056813 (Q39E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248450	NM_001013703.4(EIF2AK4):c.125G>A (p.Arg42Gln)	EIF2AK4, LOC130056813 (R42Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3274956	NM_001013703.4(EIF2AK4):c.140G>T (p.Gly47Val)	EIF2AK4, LOC130056813 (G47V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 674659	NM_001013703.4(EIF2AK4):c.145-206A>G	EIF2AK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674660	NM_001013703.4(EIF2AK4):c.145-81A>T	EIF2AK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 812856	NM_001013703.4(EIF2AK4):c.145-2A>G	EIF2AK4	Single nucleotide variant (splice acceptor variant)	Familial pulmonary capillary hemangiomatosis	GPathogenic
Select item 3274952	NM_001013703.4(EIF2AK4):c.148A>G (p.Lys50Glu)	EIF2AK4 (K50E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3087875	NM_001013703.4(EIF2AK4):c.172G>C (p.Val58Leu)	EIF2AK4 (V58L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401651	NM_001013703.4(EIF2AK4):c.218T>C (p.Val73Ala)	EIF2AK4 (V73A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1551710	NM_001013703.4(EIF2AK4):c.219G>A (p.Val73=)	EIF2AK4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 812857	NM_001013703.4(EIF2AK4):c.257+4A>C	EIF2AK4	Single nucleotide variant (intron variant)	Familial pulmonary capillary hemangiomatosis	GLikely pathogenic
Select item 674661	NM_001013703.4(EIF2AK4):c.257+183C>A	EIF2AK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672385	NM_001013703.4(EIF2AK4):c.257+301dup	EIF2AK4	Duplication (intron variant)	not provided	GBenign
Select item 1243175	NM_001013703.4(EIF2AK4):c.258-350T>C	EIF2AK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297334	NM_001013703.4(EIF2AK4):c.258-13_258-12del	EIF2AK4	Deletion (intron variant)	not provided	GBenign
Select item 1292297	NM_001013703.4(EIF2AK4):c.258-12del	EIF2AK4	Deletion (intron variant)	not provided	GBenign
Select item 1243526	NM_001013703.4(EIF2AK4):c.258-14_258-12del	EIF2AK4	Deletion (intron variant)	not provided	GBenign
Select item 1238638	NM_001013703.4(EIF2AK4):c.258-11G>T	EIF2AK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 789530	NM_001013703.4(EIF2AK4):c.258-10C>T	EIF2AK4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 742230	NM_001013703.4(EIF2AK4):c.258-4C>A	EIF2AK4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 812858	NM_001013703.4(EIF2AK4):c.281dup (p.Asn94fs)	EIF2AK4 (N94fs)	Duplication (frameshift variant)	Familial pulmonary capillary hemangiomatosis	GPathogenic
Select item 2527080	NM_001013703.4(EIF2AK4):c.290G>A (p.Gly97Asp)	EIF2AK4 (G97D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1432088	NM_001013703.4(EIF2AK4):c.292C>G (p.Leu98Val)	EIF2AK4 (L98V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1706626	NM_001013703.4(EIF2AK4):c.301G>T (p.Glu101Ter)	EIF2AK4 (E101*)	Single nucleotide variant (nonsense)	Pulmonary arterial hypertension	GPathogenic
Select item 426050	NM_001013703.4(EIF2AK4):c.354_355del (p.Cys118fs)	EIF2AK4 (C118fs)	Microsatellite (frameshift variant)	Familial pulmonary capillary hemangiomatosis	GPathogenic
Select item 1524233	NM_001013703.4(EIF2AK4):c.360+4A>G	EIF2AK4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1235851	NM_001013703.4(EIF2AK4):c.360+300G>A	EIF2AK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290841	NM_001013703.4(EIF2AK4):c.360+308A>G	EIF2AK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237560	NM_001013703.4(EIF2AK4):c.361-180A>G	EIF2AK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1932049	NM_001013703.4(EIF2AK4):c.367A>G (p.Ile123Val)	EIF2AK4 (I123V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 993740	NM_001013703.4(EIF2AK4):c.420C>T (p.Pro140=)	EIF2AK4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2107943	NM_001013703.4(EIF2AK4):c.434_435del (p.Phe145fs)	EIF2AK4 (F145fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1923326	NM_001013703.4(EIF2AK4):c.457_458del (p.Arg153fs)	EIF2AK4 (R153fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2894105	NM_001013703.4(EIF2AK4):c.480G>A (p.Arg160=)	EIF2AK4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2082669	NM_001013703.4(EIF2AK4):c.496C>T (p.Arg166Trp)	EIF2AK4 (R166W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1990701	NM_001013703.4(EIF2AK4):c.513+17G>A	EIF2AK4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1243170	NM_001013703.4(EIF2AK4):c.514-269A>C	EIF2AK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275027	NM_001013703.4(EIF2AK4):c.514-256A>G	EIF2AK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674892	NM_001013703.4(EIF2AK4):c.514-179G>A	EIF2AK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1109180	NM_001013703.4(EIF2AK4):c.545G>A (p.Arg182Lys)	EIF2AK4 (R182K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2082771	NM_001013703.4(EIF2AK4):c.558A>G (p.Ile186Met)	EIF2AK4 (I186M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 280131	NM_001013703.4(EIF2AK4):c.560_564del (p.Lys187fs)	EIF2AK4 (K187fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2636337	NM_001013703.4(EIF2AK4):c.563_564del (p.Glu188fs)	EIF2AK4 (E188fs)	Deletion (frameshift variant)	EIF2AK4-related disorder	GLikely pathogenic
Select item 97066	NM_001013703.4(EIF2AK4):c.567dup (p.Lys190fs)	EIF2AK4 (K190fs)	Duplication (frameshift variant)	Familial pulmonary capillary hemangiomatosis	GPathogenic
Select item 1183665	NM_001013703.4(EIF2AK4):c.594+204A>G	EIF2AK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674638	NM_001013703.4(EIF2AK4):c.595-132A>G	EIF2AK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2910368	NM_001013703.4(EIF2AK4):c.626A>G (p.Gln209Arg)	EIF2AK4 (Q209R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 618618	NM_001013703.4(EIF2AK4):c.668C>G (p.Ala223Gly)	EIF2AK4 (A223G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2961717	NM_001013703.4(EIF2AK4):c.689C>T (p.Ser230Phe)	EIF2AK4 (S230F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1311303	NM_001013703.4(EIF2AK4):c.709G>A (p.Gly237Ser)	EIF2AK4 (G237S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1233260	NM_001013703.4(EIF2AK4):c.743+129_743+132del	EIF2AK4	Deletion (intron variant)	not provided	GBenign
Select item 1260853	NM_001013703.4(EIF2AK4):c.743+153G>A	EIF2AK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293681	NM_001013703.4(EIF2AK4):c.743+254_743+255del	EIF2AK4	Deletion (intron variant)	not provided	GBenign
Select item 1278410	NM_001013703.4(EIF2AK4):c.743+255del	EIF2AK4	Deletion (intron variant)	not provided	GBenign
Select item 683489	NM_001013703.4(EIF2AK4):c.744-311G>A	EIF2AK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683492	NM_001013703.4(EIF2AK4):c.744-262C>G	EIF2AK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678093	NM_001013703.4(EIF2AK4):c.744-242G>T	EIF2AK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674639	NM_001013703.4(EIF2AK4):c.744-166C>T	EIF2AK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674893	NM_001013703.4(EIF2AK4):c.744-99G>A	EIF2AK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2428577	NM_001013703.4(EIF2AK4):c.744-12T>A	EIF2AK4	Single nucleotide variant (intron variant)	Familial pulmonary capillary hemangiomatosis	GUncertain significance
Select item 995681	NM_001013703.4(EIF2AK4):c.744-11T>G	EIF2AK4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 426051	NM_001013703.4(EIF2AK4):c.745C>T (p.Arg249Ter)	EIF2AK4 (R249*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2238344	NM_001013703.4(EIF2AK4):c.748G>A (p.Glu250Lys)	EIF2AK4 (E250K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354763	NM_001013703.4(EIF2AK4):c.752G>A (p.Arg251His)	EIF2AK4 (R251H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 774494	NM_001013703.4(EIF2AK4):c.859+7A>G	EIF2AK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1637822	NM_001013703.4(EIF2AK4):c.859+17A>C	EIF2AK4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 674640	NM_001013703.4(EIF2AK4):c.859+55A>G	EIF2AK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678114	NM_001013703.4(EIF2AK4):c.859+232T>C	EIF2AK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255132	NM_001013703.4(EIF2AK4):c.860-284G>A	EIF2AK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683494	NM_001013703.4(EIF2AK4):c.860-272A>G	EIF2AK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 101530	NM_001013703.4(EIF2AK4):c.860-1G>A	EIF2AK4	Single nucleotide variant (splice acceptor variant)	Familial pulmonary capillary hemangiomatosis	GPathogenic
Select item 3274954	NM_001013703.4(EIF2AK4):c.908C>G (p.Ala303Gly)	EIF2AK4 (A303G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2633593	NM_001013703.4(EIF2AK4):c.964G>A (p.Gly322Ser)	EIF2AK4 (G322S)	Single nucleotide variant (missense variant)	EIF2AK4-related disorder	GUncertain significance
Select item 2441201	NM_001013703.4(EIF2AK4):c.983A>C (p.Gln328Pro)	EIF2AK4 (Q328P)	Single nucleotide variant (missense variant)	Familial pulmonary capillary hemangiomatosis	GUncertain significance
Select item 1279441	NM_001013703.4(EIF2AK4):c.1017+285A>C	EIF2AK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674641	NM_001013703.4(EIF2AK4):c.1018-41G>A	EIF2AK4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282160	NM_001013703.4(EIF2AK4):c.1018-11dup	EIF2AK4	Duplication (intron variant)	not provided	GBenign
Select item 1248947	NM_001013703.4(EIF2AK4):c.1018-12_1018-11dup	EIF2AK4	Duplication (intron variant)	not provided	GBenign
Select item 1402199	NM_001013703.4(EIF2AK4):c.1018-3C>T	EIF2AK4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1583178	NM_001013703.4(EIF2AK4):c.1035A>G (p.Thr345=)	EIF2AK4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2552618	NM_001013703.4(EIF2AK4):c.1043A>G (p.Asn348Ser)	EIF2AK4 (N348S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign

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