C0340848[trait identifier] AND "NIHR Bioresource Rare Diseases, Univer - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 812857	NM_001013703.4(EIF2AK4):c.257+4A>C	EIF2AK4	Single nucleotide variant (intron 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 812859	NM_001013703.4(EIF2AK4):c.1159_1160del (p.Leu387fs)	EIF2AK4 (L387fs)	Microsatellite (frameshift variant)	Familial pulmonary capillary hemangiomatosis	GLikely pathogenic
Select item 97064	NM_001013703.4(EIF2AK4):c.1392del (p.Arg465fs)	EIF2AK4 (R465fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 812860	NM_001013703.4(EIF2AK4):c.1739dup (p.Arg581fs)	EIF2AK4 (R581fs)	Duplication (frameshift 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 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 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 812864	NM_001013703.4(EIF2AK4):c.2841del (p.Ile948fs)	EIF2AK4 (I948fs)	Deletion (frameshift variant)	Familial pulmonary capillary hemangiomatosis	GLikely pathogenic
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 812866	NM_001013703.4(EIF2AK4):c.3097C>T (p.Gln1033Ter)	EIF2AK4 (Q1033*)	Single nucleotide variant (nonsense)	Familial pulmonary capillary hemangiomatosis	GPathogenic
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 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 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 812870	NM_001013703.4(EIF2AK4):c.4392dup (p.Lys1465Ter)	EIF2AK4 (K1465*)	Duplication (nonsense)	not provided	GPathogenic
Select item 812871	NM_001013703.4(EIF2AK4):c.4400dup (p.Glu1468fs)	EIF2AK4 (E1468fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 812872	NM_001013703.4(EIF2AK4):c.4418_4421del (p.Thr1473fs)	EIF2AK4 (T1473fs)	Microsatellite (frameshift variant)	Familial pulmonary capillary hemangiomatosis	GPathogenic