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Links from MedGen

Items: 70

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
F10
(G321A +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary factor X deficiency disease
GUncertain significance
F10
(L228P +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor X deficiency disease
GLikely pathogenic
F10, F10-AS1
(F71S)
Single nucleotide variant
(missense variant)
Hereditary factor X deficiency disease
GLikely pathogenic
F10
(R302C +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary factor X deficiency disease
GLikely pathogenic
F10, F10-AS1
(R40T)
Single nucleotide variant
(missense variant)
Hereditary factor X deficiency disease
GLikely pathogenic
F10
(K102fs)
Deletion
(frameshift variant)
Hereditary factor X deficiency disease
GLikely pathogenic
F10
(K100fs)
Deletion
(frameshift variant)
Hereditary factor X deficiency disease
GLikely pathogenic
F10
(K83fs)
Microsatellite
(frameshift variant)
Hereditary factor X deficiency disease
GLikely pathogenic
F10, F10-AS1
(E56G)
Single nucleotide variant
(missense variant)
Hereditary factor X deficiency disease
GLikely pathogenic
F10
(D86N)
Single nucleotide variant
(missense variant)
Hereditary factor X deficiency disease
GLikely pathogenic
F10
(C90*)
Single nucleotide variant
(nonsense)
Hereditary factor X deficiency disease
GLikely pathogenic
F10
Deletion
(splice acceptor variant +1 more)
Hereditary factor X deficiency disease
GLikely pathogenic
F10
(Y235* +1 more)
Single nucleotide variant
(nonsense)
Hereditary factor X deficiency disease
GPathogenic
F10
(R322H +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary factor X deficiency disease
GLikely pathogenic
F10
(D374H +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary factor X deficiency disease
GLikely pathogenic
F10, F10-AS1
(E56fs)
Deletion
(frameshift variant)
Hereditary factor X deficiency disease
GPathogenic
F10, F10-AS1
(E69K)
Single nucleotide variant
(missense variant)
Hereditary factor X deficiency disease
GLikely pathogenic
F10, F10-AS1
Single nucleotide variant
(synonymous variant)
Hereditary factor X deficiency disease
GUncertain significance
F10
(T314M +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary factor X deficiency disease
GLikely pathogenic
F10
(I407L +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary factor X deficiency disease
GLikely pathogenic
F10
(K272R +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
F10
(G362S +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary factor X deficiency disease
GPathogenic
F10
Single nucleotide variant
(intron variant)
Hereditary factor X deficiency disease
+1 more
GBenign
F10
Single nucleotide variant
(synonymous variant +1 more)
Hereditary factor X deficiency disease
+1 more
GConflicting classifications of pathogenicity
F10
(E306K +2 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary factor X deficiency disease
GUncertain significance
F10
(D172N +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor X deficiency disease
GUncertain significance
F10
(G154R)
Single nucleotide variant
(missense variant +1 more)
Hereditary factor X deficiency disease
+1 more
GUncertain significance
F10
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GUncertain significance
F10
Single nucleotide variant
(synonymous variant)
Hereditary factor X deficiency disease
GUncertain significance
F10, F10-AS1
(M48L)
Single nucleotide variant
(missense variant)
Hereditary factor X deficiency disease
+1 more
GConflicting classifications of pathogenicity
F10
(P428L +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary factor X deficiency disease
+1 more
GUncertain significance
F10
(R469K +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary factor X deficiency disease
GUncertain significance
F10
Single nucleotide variant
(synonymous variant +1 more)
Hereditary factor X deficiency disease
GUncertain significance
F10
Single nucleotide variant
(5 prime UTR variant)
Hereditary factor X deficiency disease
GUncertain significance
F10
Single nucleotide variant
Hereditary factor X deficiency disease
GUncertain significance
F10
Single nucleotide variant
(intron variant)
not provided
GLikely benign
F10-AS1, F10
Single nucleotide variant
(synonymous variant)
Hereditary factor X deficiency disease
+1 more
GBenign
F10
(R328P +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary factor X deficiency disease
+1 more
GBenign
F10, F10-AS1
Single nucleotide variant
(intron variant)
Hereditary factor X deficiency disease
+1 more
GBenign/Likely benign
F10
(W348* +1 more)
Single nucleotide variant
(nonsense +1 more)
Hereditary factor X deficiency disease
GUncertain significance
F11
Deletion
Hereditary factor X deficiency disease
GLikely pathogenic
F10
(R234S +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor X deficiency disease
GUncertain significance
F10
(R179C +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor X deficiency disease
GUncertain significance
F10, F10-AS1
(E54G)
Single nucleotide variant
(missense variant)
Hereditary factor X deficiency disease
GLikely pathogenic
F10, F10-AS1
(E54K)
Single nucleotide variant
(missense variant)
Factor X deficiency
+1 more
GConflicting classifications of pathogenicity
F10
(E441K +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary factor X deficiency disease
GUncertain significance
F10
(G134R)
Single nucleotide variant
(missense variant +1 more)
Hereditary factor X deficiency disease
+1 more
GConflicting classifications of pathogenicity
F10
(W81G)
Single nucleotide variant
(missense variant)
Hereditary factor X deficiency disease
GUncertain significance
F10
(D413N +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary factor X deficiency disease
GUncertain significance
F10
(G363S +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary factor X deficiency disease
GLikely pathogenic
F10
(G450R +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary factor X deficiency disease
GLikely pathogenic
F10
(C404R +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary factor X deficiency disease
GLikely pathogenic
F10
(R291Q +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
F10
(T409I +1 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary factor X deficiency disease
GUncertain significance
F10
Single nucleotide variant
(synonymous variant +1 more)
Hereditary factor X deficiency disease
GUncertain significance
F10
(T293M +2 more)
Single nucleotide variant
(missense variant)
Hereditary factor X deficiency disease
GUncertain significance
F10
Single nucleotide variant
(intron variant)
Hereditary factor X deficiency disease
GUncertain significance
F10
Single nucleotide variant
(synonymous variant)
Hereditary factor X deficiency disease
GUncertain significance
F10
(P195R +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor X deficiency disease
GUncertain significance
F10
(G192R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
F10
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign/Likely benign
F10
Single nucleotide variant
(synonymous variant +1 more)
Hereditary factor X deficiency disease
+1 more
GBenign/Likely benign
F10
Single nucleotide variant
(synonymous variant)
Hereditary factor X deficiency disease
GUncertain significance
F10
Single nucleotide variant
(intron variant)
Hereditary factor X deficiency disease
GUncertain significance
F10, F10-AS1
(Q30H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
F10
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
F10
(R3C)
Single nucleotide variant
(missense variant)
Hereditary factor X deficiency disease
GUncertain significance
F10
Single nucleotide variant
(synonymous variant)
Hereditary factor X deficiency disease
+2 more
GBenign
F10
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
F10
(E142K)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
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