ClinVar for MedGen (Select 90956) - ClinVar

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Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2921224	NM_001013703.4(EIF2AK4):c.3378G>A (p.Val1126=)	EIF2AK4	Single nucleotide variant (synonymous variant)	Familial pulmonary capillary hemangiomatosis	GLikely benign
Select item 2921015	NM_001013703.4(EIF2AK4):c.1424C>T (p.Thr475Met)	EIF2AK4 (T475M)	Single nucleotide variant (missense variant)	Familial pulmonary capillary hemangiomatosis	GUncertain significance
Select item 2663886	NM_001013703.4(EIF2AK4):c.1769T>G (p.Phe590Cys)	EIF2AK4 (F590C)	Single nucleotide variant (missense variant)	Familial pulmonary capillary hemangiomatosis	GUncertain significance
Select item 2585120	NM_001013703.4(EIF2AK4):c.2309del (p.Ser770fs)	EIF2AK4 (S770fs)	Deletion (frameshift variant)	Familial pulmonary capillary hemangiomatosis	GLikely pathogenic
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 2428577	NM_001013703.4(EIF2AK4):c.744-12T>A	EIF2AK4	Single nucleotide variant (intron variant)	Familial pulmonary capillary hemangiomatosis	GUncertain significance
Select item 1330986	NM_001013703.4(EIF2AK4):c.4892+12C>T	EIF2AK4	Single nucleotide variant (intron variant)	Familial pulmonary capillary hemangiomatosis	GLikely benign
Select item 1330954	NM_001013703.4(EIF2AK4):c.2394A>G (p.Leu798=)	EIF2AK4	Single nucleotide variant (synonymous variant)	Familial pulmonary capillary hemangiomatosis +2 more	GBenign/Likely benign
Select item 1330508	NM_001013703.4(EIF2AK4):c.4806T>G (p.Thr1602=)	EIF2AK4	Single nucleotide variant (synonymous variant)	Familial pulmonary capillary hemangiomatosis	GLikely benign
Select item 1330407	NM_001013703.4(EIF2AK4):c.3159+12C>A	EIF2AK4	Single nucleotide variant (intron variant)	Familial pulmonary capillary hemangiomatosis +1 more	GBenign
Select item 1322819	NM_001013703.4(EIF2AK4):c.4065+1G>T	EIF2AK4	Single nucleotide variant (splice donor variant)	Familial pulmonary capillary hemangiomatosis	GPathogenic
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 995681	NM_001013703.4(EIF2AK4):c.744-11T>G	EIF2AK4	Single nucleotide variant (intron variant)	Familial pulmonary capillary hemangiomatosis +1 more	GBenign/Likely benign
Select item 994404	NM_001013703.4(EIF2AK4):c.4901_4902del (p.Val1634fs)	EIF2AK4 (V1634fs)	Microsatellite (frameshift variant)	Familial pulmonary capillary hemangiomatosis	GUncertain significance
Select item 994323	NM_001013703.4(EIF2AK4):c.3307C>T (p.Leu1103=)	EIF2AK4	Single nucleotide variant (synonymous variant)	Familial pulmonary capillary hemangiomatosis	GLikely benign
Select item 994197	NM_001013703.4(EIF2AK4):c.1078C>T (p.Arg360Cys)	EIF2AK4 (R360C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 993740	NM_001013703.4(EIF2AK4):c.420C>T (p.Pro140=)	EIF2AK4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 993619	NM_001013703.4(EIF2AK4):c.1694T>C (p.Ile565Thr)	EIF2AK4 (I565T)	Single nucleotide variant (missense variant)	Familial pulmonary capillary hemangiomatosis	GUncertain significance
Select item 812872	NM_001013703.4(EIF2AK4):c.4418_4421del (p.Thr1473fs)	EIF2AK4 (T1473fs)	Microsatellite (frameshift variant)	Familial pulmonary capillary hemangiomatosis	GPathogenic
Select item 812871	NM_001013703.4(EIF2AK4):c.4400dup (p.Glu1468fs)	EIF2AK4 (E1468fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 812870	NM_001013703.4(EIF2AK4):c.4392dup (p.Lys1465Ter)	EIF2AK4 (K1465*)	Duplication (nonsense)	not provided	GPathogenic
Select item 812869	NM_001013703.4(EIF2AK4):c.3884T>G (p.Leu1295Arg)	EIF2AK4 (L1295R)	Single nucleotide variant (missense variant)	Familial pulmonary capillary hemangiomatosis	GLikely pathogenic
Select item 812868	NM_001013703.4(EIF2AK4):c.3605A>T (p.His1202Leu)	EIF2AK4 (H1202L)	Single nucleotide variant (missense variant)	Familial pulmonary capillary hemangiomatosis	GLikely pathogenic
Select item 812867	NM_001013703.4(EIF2AK4):c.3325G>A (p.Gly1109Arg)	EIF2AK4 (G1109R)	Single nucleotide variant (missense variant)	Familial pulmonary capillary hemangiomatosis	GLikely pathogenic
Select item 812866	NM_001013703.4(EIF2AK4):c.3097C>T (p.Gln1033Ter)	EIF2AK4 (Q1033*)	Single nucleotide variant (nonsense)	Familial pulmonary capillary hemangiomatosis	GPathogenic
Select item 812865	NM_001013703.4(EIF2AK4):c.3055_3064del (p.Leu1019fs)	EIF2AK4 (L1019fs)	Deletion (frameshift variant)	Familial pulmonary capillary hemangiomatosis	GLikely pathogenic
Select item 812864	NM_001013703.4(EIF2AK4):c.2841del (p.Ile948fs)	EIF2AK4 (I948fs)	Deletion (frameshift variant)	Familial pulmonary capillary hemangiomatosis	GLikely pathogenic
Select item 812863	NM_001013703.4(EIF2AK4):c.2727C>G (p.Ser909Arg)	EIF2AK4 (S909R)	Single nucleotide variant (missense variant)	Familial pulmonary capillary hemangiomatosis	GLikely pathogenic
Select item 812862	NM_001013703.4(EIF2AK4):c.1820T>G (p.Val607Gly)	EIF2AK4 (V607G)	Single nucleotide variant (missense variant)	Familial pulmonary capillary hemangiomatosis	GLikely pathogenic
Select item 812861	NM_001013703.4(EIF2AK4):c.1795G>C (p.Gly599Arg)	EIF2AK4 (G599R)	Single nucleotide variant (missense variant)	Familial pulmonary capillary hemangiomatosis	GLikely pathogenic
Select item 812860	NM_001013703.4(EIF2AK4):c.1739dup (p.Arg581fs)	EIF2AK4 (R581fs)	Duplication (frameshift variant)	Familial pulmonary capillary hemangiomatosis	GLikely pathogenic
Select item 812859	NM_001013703.4(EIF2AK4):c.1159_1160del (p.Leu387fs)	EIF2AK4 (L387fs)	Microsatellite (frameshift variant)	Familial pulmonary capillary hemangiomatosis	GLikely pathogenic
Select item 812858	NM_001013703.4(EIF2AK4):c.281dup (p.Asn94fs)	EIF2AK4 (N94fs)	Duplication (frameshift variant)	Familial pulmonary capillary hemangiomatosis	GPathogenic
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 812856	NM_001013703.4(EIF2AK4):c.145-2A>G	EIF2AK4	Single nucleotide variant (splice acceptor variant)	Familial pulmonary capillary hemangiomatosis	GPathogenic
Select item 811859	NM_001013703.4(EIF2AK4):c.3160-8T>C	EIF2AK4	Single nucleotide variant (intron variant)	Familial pulmonary capillary hemangiomatosis +1 more	GBenign
Select item 811620	NM_001013703.4(EIF2AK4):c.3129C>T (p.Ile1043=)	EIF2AK4	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 811616	NM_001013703.4(EIF2AK4):c.2249+15C>A	EIF2AK4	Single nucleotide variant (intron variant)	Familial pulmonary capillary hemangiomatosis	GLikely benign
Select item 811343	NM_001013703.4(EIF2AK4):c.2025G>A (p.Leu675=)	EIF2AK4	Single nucleotide variant (synonymous variant)	Familial pulmonary capillary hemangiomatosis	GLikely benign
Select item 811299	NM_001013703.4(EIF2AK4):c.4851A>G (p.Lys1617=)	EIF2AK4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 810986	NM_001013703.4(EIF2AK4):c.1660+12A>T	EIF2AK4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 810968	NM_001013703.4(EIF2AK4):c.3123T>G (p.Pro1041=)	EIF2AK4	Single nucleotide variant (synonymous variant)	Familial pulmonary capillary hemangiomatosis	GLikely benign
Select item 720697	NM_001013703.4(EIF2AK4):c.2020C>T (p.Pro674Ser)	EIF2AK4 (P674S)	Single nucleotide variant (missense variant)	Familial pulmonary capillary hemangiomatosis +1 more	GBenign/Likely benign
Select item 718584	NM_001013703.4(EIF2AK4):c.2058G>A (p.Pro686=)	EIF2AK4	Single nucleotide variant (synonymous variant)	Familial pulmonary capillary hemangiomatosis +1 more	GBenign
Select item 682150	NM_001013703.4(EIF2AK4):c.1968C>T (p.Ile656=)	EIF2AK4	Single nucleotide variant (synonymous variant)	Familial pulmonary capillary hemangiomatosis +1 more	GBenign/Likely benign
Select item 618620	NM_001013703.4(EIF2AK4):c.4007A>G (p.Lys1336Arg)	EIF2AK4 (K1336R)	Single nucleotide variant (missense variant)	Familial pulmonary capillary hemangiomatosis +2 more	GBenign/Likely benign
Select item 516758	NM_001013703.4(EIF2AK4):c.4893-20TCTTT[2]	EIF2AK4	Microsatellite (intron variant)	EIF2AK4-related condition +2 more	GBenign
Select item 507457	NM_001013703.4(EIF2AK4):c.4562-12T>G	EIF2AK4	Single nucleotide variant (intron variant)	Familial pulmonary capillary hemangiomatosis +2 more	GBenign
Select item 506510	NM_001013703.4(EIF2AK4):c.4303-9T>G	EIF2AK4	Single nucleotide variant (intron variant)	Familial pulmonary capillary hemangiomatosis +1 more	GBenign
Select item 506509	NM_001013703.4(EIF2AK4):c.2662G>C (p.Asp888His)	EIF2AK4 (D888H)	Single nucleotide variant (missense variant)	Familial pulmonary capillary hemangiomatosis +1 more	GBenign
Select item 506508	NM_001013703.4(EIF2AK4):c.2403+12G>A	EIF2AK4	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 506507	NM_001013703.4(EIF2AK4):c.2320-4T>G	EIF2AK4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 439642	NM_001013703.4(EIF2AK4):c.3358-13_3358-10del	EIF2AK4	Deletion (intron variant)	Familial pulmonary capillary hemangiomatosis +1 more	GBenign
Select item 426064	NM_001013703.4(EIF2AK4):c.4728+1_4728+13delinsTTCT	EIF2AK4	Indel (splice donor variant)	Familial pulmonary capillary hemangiomatosis	GPathogenic
Select item 426063	NM_001013703.4(EIF2AK4):c.4205dup (p.Ser1403fs)	EIF2AK4 (S1403fs)	Duplication (frameshift variant)	Familial pulmonary capillary hemangiomatosis +1 more	GPathogenic
Select item 426062	NM_001013703.4(EIF2AK4):c.4065+1G>C	EIF2AK4	Single nucleotide variant (splice donor variant)	Familial pulmonary capillary hemangiomatosis	GPathogenic
Select item 426061	NM_001013703.4(EIF2AK4):c.3576+1G>T	EIF2AK4	Single nucleotide variant (splice donor variant)	Familial pulmonary capillary hemangiomatosis	GPathogenic
Select item 426060	NM_001013703.4(EIF2AK4):c.3344C>T (p.Pro1115Leu)	EIF2AK4 (P1115L)	Single nucleotide variant (missense variant)	Familial pulmonary capillary hemangiomatosis	GPathogenic
Select item 426059	NM_001013703.4(EIF2AK4):c.3244C>T (p.Gln1082Ter)	EIF2AK4 (Q1082*)	Single nucleotide variant (nonsense)	Familial pulmonary capillary hemangiomatosis	GPathogenic
Select item 426058	NM_001013703.4(EIF2AK4):c.3159G>A (p.Lys1053=)	EIF2AK4	Single nucleotide variant (synonymous variant)	Familial pulmonary capillary hemangiomatosis	GPathogenic
Select item 426057	NM_001013703.4(EIF2AK4):c.2857C>T (p.Gln953Ter)	EIF2AK4 (Q953*)	Single nucleotide variant (nonsense)	Familial pulmonary capillary hemangiomatosis	GPathogenic
Select item 426056	NM_001013703.4(EIF2AK4):c.2458C>T (p.Arg820Ter)	EIF2AK4 (R820*)	Single nucleotide variant (nonsense)	Familial pulmonary capillary hemangiomatosis	GPathogenic
Select item 426055	NM_001013703.4(EIF2AK4):c.2319+1G>A	EIF2AK4	Single nucleotide variant (splice donor variant)	Familial pulmonary capillary hemangiomatosis	GPathogenic
Select item 426054	NM_001013703.4(EIF2AK4):c.2136_2139dup (p.Ser714fs)	EIF2AK4 (S714fs)	Duplication (frameshift variant)	Familial pulmonary capillary hemangiomatosis	GPathogenic
Select item 426053	NM_001013703.4(EIF2AK4):c.1928T>G (p.Leu643Arg)	EIF2AK4 (L643R)	Single nucleotide variant (missense variant)	Familial pulmonary capillary hemangiomatosis	GPathogenic
Select item 426052	NM_001013703.4(EIF2AK4):c.1554-4C>A	EIF2AK4	Single nucleotide variant (intron variant)	Familial pulmonary capillary hemangiomatosis	GPathogenic
Select item 426051	NM_001013703.4(EIF2AK4):c.745C>T (p.Arg249Ter)	EIF2AK4 (R249*)	Single nucleotide variant (nonsense)	not provided	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 402821	NM_001013703.4(EIF2AK4):c.2205CGA[5] (p.Asp736_Asp737dup)	EIF2AK4	Microsatellite (inframe_insertion)	not provided +2 more	GBenign
Select item 381213	NM_001013703.4(EIF2AK4):c.1321A>C (p.Ile441Leu)	EIF2AK4 (I441L)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 381187	NM_001013703.4(EIF2AK4):c.*16G>A	EIF2AK4	Single nucleotide variant (3 prime UTR variant)	Familial pulmonary capillary hemangiomatosis +1 more	GBenign
Select item 381186	NM_001013703.4(EIF2AK4):c.*5A>G	EIF2AK4	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GBenign
Select item 381185	NM_001013703.4(EIF2AK4):c.4562-8G>T	EIF2AK4	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 381184	NM_001013703.4(EIF2AK4):c.4215C>T (p.Gly1405=)	EIF2AK4	Single nucleotide variant (synonymous variant)	Familial pulmonary capillary hemangiomatosis +2 more	GBenign
Select item 381183	NM_001013703.4(EIF2AK4):c.4174-17G>T	EIF2AK4	Single nucleotide variant (intron variant)	Familial pulmonary capillary hemangiomatosis +2 more	GBenign
Select item 381182	NM_001013703.4(EIF2AK4):c.3916G>T (p.Gly1306Cys)	EIF2AK4 (G1306C)	Single nucleotide variant (missense variant)	Familial pulmonary capillary hemangiomatosis +2 more	GBenign
Select item 381181	NM_001013703.4(EIF2AK4):c.3408-14G>C	EIF2AK4	Single nucleotide variant (intron variant)	Familial pulmonary capillary hemangiomatosis +2 more	GBenign
Select item 381180	NM_001013703.4(EIF2AK4):c.2249+7G>A	EIF2AK4	Single nucleotide variant (intron variant)	Familial pulmonary capillary hemangiomatosis +2 more	GBenign
Select item 381179	NM_001013703.4(EIF2AK4):c.1667A>G (p.Glu556Gly)	EIF2AK4 (E556G)	Single nucleotide variant (missense variant)	Familial pulmonary capillary hemangiomatosis +2 more	GBenign
Select item 381178	NM_001013703.4(EIF2AK4):c.99T>C (p.Ile33=)	EIF2AK4, LOC130056813	Single nucleotide variant (synonymous variant)	Familial pulmonary capillary hemangiomatosis +2 more	GBenign
Select item 280131	NM_001013703.4(EIF2AK4):c.560_564del (p.Lys187fs)	EIF2AK4 (K187fs)	Deletion (frameshift variant)	not provided	GPathogenic
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 101529	NM_001013703.4(EIF2AK4):c.3448C>T (p.Arg1150Ter)	EIF2AK4 (R1150*)	Single nucleotide variant (nonsense)	Familial pulmonary capillary hemangiomatosis	GPathogenic
Select item 101528	NM_001013703.4(EIF2AK4):c.3766C>T (p.Arg1256Ter)	EIF2AK4 (R1256*)	Single nucleotide variant (nonsense)	Familial pulmonary capillary hemangiomatosis +1 more	GPathogenic
Select item 101527	NM_001013703.4(EIF2AK4):c.1153dup (p.Val385fs)	EIF2AK4 (V385fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 97069	NM_001013703.4(EIF2AK4):c.1387C>T (p.Arg463Ter)	EIF2AK4 (R463*)	Single nucleotide variant (nonsense)	Familial pulmonary capillary hemangiomatosis	GPathogenic
Select item 97068	NM_001013703.4(EIF2AK4):c.1754G>A (p.Arg585Gln)	EIF2AK4 (R585Q)	Single nucleotide variant (missense variant)	Familial pulmonary capillary hemangiomatosis	GPathogenic
Select item 97067	NM_001013703.4(EIF2AK4):c.3406C>T (p.Arg1136Ter)	EIF2AK4 (R1136*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 97066	NM_001013703.4(EIF2AK4):c.567dup (p.Lys190fs)	EIF2AK4 (K190fs)	Duplication (frameshift variant)	Familial pulmonary capillary hemangiomatosis	GPathogenic
Select item 97065	NM_001013703.4(EIF2AK4):c.3802C>T (p.Gln1268Ter)	EIF2AK4 (Q1268*)	Single nucleotide variant (nonsense)	Familial pulmonary capillary hemangiomatosis	GPathogenic
Select item 97064	NM_001013703.4(EIF2AK4):c.1392del (p.Arg465fs)	EIF2AK4 (R465fs)	Deletion (frameshift variant)	Familial pulmonary capillary hemangiomatosis	GPathogenic
Select item 39422	NM_001204.7(BMPR2):c.604A>T (p.Asn202Tyr)	BMPR2 (N202Y)	Single nucleotide variant (missense variant)	Familial pulmonary capillary hemangiomatosis +1 more	GConflicting classifications of pathogenicity

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Items: 93