U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 63

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
F7
(G132R +2 more)
Single nucleotide variant
(missense variant +1 more)
Congenital factor VII deficiency
GLikely pathogenic
F7
(S149P +2 more)
Single nucleotide variant
(missense variant +1 more)
Congenital factor VII deficiency
GUncertain significance
F7
(V228fs +2 more)
Insertion
(frameshift variant +1 more)
Congenital factor VII deficiency
GUncertain significance
F7
(C60F +3 more)
Single nucleotide variant
(missense variant +2 more)
Congenital factor VII deficiency
GLikely pathogenic
F7
(S320N +2 more)
Single nucleotide variant
(missense variant +1 more)
Congenital factor VII deficiency
GUncertain significance
F7
(C170R +2 more)
Single nucleotide variant
(missense variant +1 more)
Congenital factor VII deficiency
GUncertain significance
F7
(E52fs +1 more)
Duplication
(frameshift variant +2 more)
not provided
+1 more
GPathogenic/Likely pathogenic
F7
(V44I)
Single nucleotide variant
(missense variant +1 more)
Congenital factor VII deficiency
GLikely pathogenic
F7
(R148C +2 more)
Single nucleotide variant
(missense variant +1 more)
Congenital factor VII deficiency
GUncertain significance
F7
(D188N +2 more)
Single nucleotide variant
(missense variant +1 more)
Congenital factor VII deficiency
+1 more
GConflicting classifications of pathogenicity
F7
(C344R +2 more)
Single nucleotide variant
(missense variant +1 more)
Congenital factor VII deficiency
GUncertain significance
F7
(P48S +1 more)
Single nucleotide variant
(missense variant +2 more)
Congenital factor VII deficiency
+1 more
GUncertain significance
F7
(E241K +2 more)
Single nucleotide variant
(missense variant +1 more)
Congenital factor VII deficiency
GUncertain significance
F7
(R66G +1 more)
Single nucleotide variant
(missense variant +2 more)
Congenital factor VII deficiency
GUncertain significance
F7
(P236L +2 more)
Single nucleotide variant
(missense variant +1 more)
Congenital factor VII deficiency
GUncertain significance
F7
Single nucleotide variant
(intron variant)
Congenital factor VII deficiency
GUncertain significance
F7
(Q59* +1 more)
Single nucleotide variant
(nonsense +2 more)
Congenital factor VII deficiency
GLikely pathogenic
F7
(E57Q +1 more)
Single nucleotide variant
(missense variant +2 more)
Congenital factor VII deficiency
GUncertain significance
F7
(W163C +2 more)
Single nucleotide variant
(missense variant +1 more)
Congenital factor VII deficiency
GUncertain significance
F7
Single nucleotide variant
(intron variant)
Congenital factor VII deficiency
GUncertain significance
F7
(W340* +2 more)
Single nucleotide variant
(nonsense +1 more)
Congenital factor VII deficiency
GLikely pathogenic
F7
(V229fs +2 more)
Deletion
(frameshift variant +1 more)
Congenital factor VII deficiency
GLikely pathogenic
F7
Single nucleotide variant
(splice donor variant +1 more)
Congenital factor VII deficiency
+1 more
GPathogenic
F7
(I116S +2 more)
Single nucleotide variant
(missense variant +1 more)
Congenital factor VII deficiency
+1 more
GUncertain significance
F7
(D71E +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
F7
(C111R +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GLikely pathogenic
F7
(R242Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Congenital factor VII deficiency
GUncertain significance
F7
Single nucleotide variant
(intron variant)
Congenital factor VII deficiency
+1 more
GPathogenic/Likely pathogenic
F7
(V228M +2 more)
Single nucleotide variant
(missense variant +1 more)
Congenital factor VII deficiency
GPathogenic/Likely pathogenic
F7
(T354I +2 more)
Single nucleotide variant
(missense variant +1 more)
Congenital factor VII deficiency
GUncertain significance
F7
(G49R +1 more)
Single nucleotide variant
(missense variant +2 more)
Congenital factor VII deficiency
GLikely pathogenic
F7
(D161E +2 more)
Single nucleotide variant
(missense variant +1 more)
Congenital factor VII deficiency
GUncertain significance
F7
(G155R +2 more)
Single nucleotide variant
(missense variant +1 more)
Congenital factor VII deficiency
GLikely pathogenic
F7
(A29D +1 more)
Single nucleotide variant
(missense variant +2 more)
Congenital factor VII deficiency
GLikely pathogenic
F7
(G135S +2 more)
Single nucleotide variant
(missense variant +1 more)
Congenital factor VII deficiency
GLikely pathogenic
F7
(L224P +2 more)
Single nucleotide variant
(missense variant +1 more)
Congenital factor VII deficiency
GLikely pathogenic
F7
(G307S +2 more)
Single nucleotide variant
(missense variant +1 more)
Congenital factor VII deficiency
GLikely pathogenic
F7
(Y359* +2 more)
Single nucleotide variant
(nonsense +1 more)
Congenital factor VII deficiency
GPathogenic
F7
(R128* +2 more)
Single nucleotide variant
(nonsense +1 more)
Congenital factor VII deficiency
GPathogenic
F7
(G134S +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
F7
(R223H +2 more)
Single nucleotide variant
(missense variant +1 more)
Congenital factor VII deficiency
+1 more
GPathogenic/Likely pathogenic
F7
(E361K +2 more)
Single nucleotide variant
(missense variant +1 more)
Factor VII deficiency
+3 more
GUncertain significance
F7
Single nucleotide variant
(5 prime UTR variant +1 more)
Factor VII deficiency
GUncertain significance
F7
(A282T +2 more)
Single nucleotide variant
(missense variant +1 more)
Factor VII deficiency
+1 more
GUncertain significance
F7
(R262Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
F7
Microsatellite
(splice donor variant)
not provided
+3 more
GConflicting classifications of pathogenicity
F7
(A282V +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
F7
Deletion
(splice donor variant)
Congenital factor VII deficiency
+1 more
GUncertain significance
F7
Single nucleotide variant
(splice donor variant)
Myocardial infarction, susceptibility to
+3 more
GPathogenic/Likely pathogenic
F7
(S50C +1 more)
Single nucleotide variant
(missense variant +2 more)
Factor VII deficiency
GUncertain significance
F7
(G321S +2 more)
Single nucleotide variant
(missense variant +1 more)
Congenital factor VII deficiency
+1 more
GLikely pathogenic
F7
(Q138R +2 more)
Single nucleotide variant
(missense variant +1 more)
Myocardial infarction, susceptibility to
+3 more
GPathogenic/Likely pathogenic
F7
(R148H +2 more)
Single nucleotide variant
(missense variant +1 more)
Congenital factor VII deficiency
+1 more
GConflicting classifications of pathogenicity
F7
(E73K +1 more)
Single nucleotide variant
(missense variant +2 more)
Factor VII deficiency
GUncertain significance
F7
(P442fs +2 more)
Deletion
(frameshift variant +1 more)
Myocardial infarction, susceptibility to
+4 more
GPathogenic/Likely pathogenic
F7
(T219N +2 more)
Single nucleotide variant
(missense variant +1 more)
Congenital factor VII deficiency
+1 more
GLikely pathogenic
F7
Single nucleotide variant
(intron variant)
Myocardial infarction, susceptibility to
+3 more
GLikely benign
F7
(T362M +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
F7
(R342Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Myocardial infarction, susceptibility to
+4 more
GPathogenic/Likely pathogenic; other
F7
Single nucleotide variant
(5 prime UTR variant +1 more)
Congenital factor VII deficiency
+1 more
GUncertain significance
F7
(C348F +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GPathogenic/Likely pathogenic
F7
(R200fs +2 more)
Deletion
(frameshift variant +1 more)
Congenital factor VII deficiency
+1 more
GPathogenic
F7
(A354V +2 more)
Single nucleotide variant
(missense variant +1 more)
Factor VII deficiency
+4 more
GConflicting classifications of pathogenicity
Format
Items per page
Sort by
Choose Destination