ClinVar for MedGen (Select 416465) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3393119	NM_000412.5(HRG):c.1194_1196del (p.His400del)	HRG (H400del)	Deletion (inframe_indel)	Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency	GUncertain significance
Select item 3065603	NM_000412.5(HRG):c.372del (p.Phe124fs)	HRG, LOC126806897 (F124fs)	Deletion (frameshift variant)	Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency	GUncertain significance
Select item 3064475	NM_000412.5(HRG):c.227C>T (p.Ser76Leu)	HRG, LOC126806897 (S76L)	Single nucleotide variant (missense variant)	Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency +1 more	GUncertain significance
Select item 1684328	NM_000412.5(HRG):c.745C>T (p.His249Tyr)	HRG (H249Y)	Single nucleotide variant (missense variant)	Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency	GUncertain significance
Select item 1684326	NM_000412.5(HRG):c.946C>T (p.Pro316Ser)	HRG (P316S)	Single nucleotide variant (missense variant)	Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency	GUncertain significance
Select item 1684325	NM_000412.5(HRG):c.736C>A (p.Pro246Thr)	HRG (P246T)	Single nucleotide variant (missense variant)	Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency	GUncertain significance
Select item 1676737	NM_000412.5(HRG):c.72C>A (p.Cys24Ter)	HRG (C24*)	Single nucleotide variant (nonsense)	Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency	GUncertain significance
Select item 1285355	NM_000412.5(HRG):c.1478A>T (p.Asn493Ile)	HRG (N493I)	Single nucleotide variant (missense variant)	Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency +1 more	GBenign
Select item 1285354	NM_000412.5(HRG):c.1342C>T (p.Arg448Cys)	HRG (R448C)	Single nucleotide variant (missense variant)	Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency +1 more	GBenign
Select item 1285353	NM_000412.5(HRG):c.610C>T (p.Pro204Ser)	HRG (P204S)	Single nucleotide variant (missense variant)	Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency +1 more	GBenign
Select item 809579	NM_000412.5(HRG):c.125G>A (p.Arg42Gln)	HRG (R42Q)	Single nucleotide variant (missense variant)	Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency +2 more	GConflicting classifications of pathogenicity
Select item 440913	NM_000412.5(HRG):c.271C>T (p.Pro91Ser)	HRG, LOC126806897 (P91S)	Single nucleotide variant (missense variant)	Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency +1 more	GPathogenic/Likely pathogenic
Select item 374832	C223R	HRG	Single nucleotide variant	Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency	GPathogenic
Select item 14914	NM_000412.5(HRG):c.308G>A (p.Gly103Glu)	HRG, LOC126806897 (G103E)	Single nucleotide variant (missense variant)	Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency	GPathogenic