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Links from MedGen

Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HRG, LOC126806897
(F124fs)
Deletion
(frameshift variant)
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
GUncertain significance
HRG, LOC126806897
(S76L)
Single nucleotide variant
(missense variant)
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
GUncertain significance
HRG
(H249Y)
Single nucleotide variant
(missense variant)
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
GUncertain significance
HRG
(P316S)
Single nucleotide variant
(missense variant)
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
GUncertain significance
HRG
(P246T)
Single nucleotide variant
(missense variant)
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
GUncertain significance
HRG
(C24*)
Single nucleotide variant
(nonsense)
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
GUncertain significance
HRG
(N493I)
Single nucleotide variant
(missense variant)
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
GBenign
HRG
(R448C)
Single nucleotide variant
(missense variant)
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
GBenign
HRG
(P204S)
Single nucleotide variant
(missense variant)
HRG-related disorder
+1 more
GBenign
HRG
(R42Q)
Single nucleotide variant
(missense variant)
Thrombus
+3 more
GConflicting classifications of pathogenicity
HRG, HRG-AS1
+1 more
(P91S)
Single nucleotide variant
(missense variant)
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
+1 more
GPathogenic/Likely pathogenic
HRG
Single nucleotide variant
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
GPathogenic
HRG, HRG-AS1
+1 more
(G103E)
Single nucleotide variant
(missense variant)
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
GPathogenic
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