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Links from MedGen

Items: 1 to 100 of 533

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
F9
Deletion
Thrombophilia, X-linked, due to factor 9 defect
+1 more
GPathogenic
F9
(W415* +1 more)
Single nucleotide variant
(nonsense)
Hereditary factor IX deficiency disease
GPathogenic
F9
(A299V +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor IX deficiency disease
GPathogenic
F9
(C397S +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor IX deficiency disease
GUncertain significance
F9
(C397R +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor IX deficiency disease
GUncertain significance
F9
(C397F +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor IX deficiency disease
GUncertain significance
F9
(C397G +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor IX deficiency disease
GLikely pathogenic
F9
(G404V +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor IX deficiency disease
GLikely pathogenic
F9
(G404A +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor IX deficiency disease
GLikely pathogenic
F9
(G374A +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor IX deficiency disease
GUncertain significance
F9
Single nucleotide variant
(intron variant)
Hereditary factor IX deficiency disease
GLikely pathogenic
F9
(W393L +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor IX deficiency disease
+1 more
GUncertain significance
F9
Single nucleotide variant
(synonymous variant)
Hereditary factor IX deficiency disease
+1 more
GLikely benign
F9
Single nucleotide variant
(synonymous variant)
Thrombophilia, X-linked, due to factor 9 defect
+1 more
GLikely benign
F9
(D367Y +1 more)
Single nucleotide variant
(missense variant)
Thrombophilia, X-linked, due to factor 9 defect
+1 more
GUncertain significance
F9
Single nucleotide variant
(intron variant)
Thrombophilia, X-linked, due to factor 9 defect
+1 more
GLikely benign
F9
Single nucleotide variant
(synonymous variant +1 more)
Thrombophilia, X-linked, due to factor 9 defect
+1 more
GLikely benign
F9
Single nucleotide variant
(intron variant)
Thrombophilia, X-linked, due to factor 9 defect
+1 more
GLikely benign
F9
Single nucleotide variant
(synonymous variant)
Thrombophilia, X-linked, due to factor 9 defect
+1 more
GLikely benign
F9
Single nucleotide variant
(intron variant)
Thrombophilia, X-linked, due to factor 9 defect
+1 more
GLikely benign
F9
(K349fs +1 more)
Deletion
(frameshift variant)
Thrombophilia, X-linked, due to factor 9 defect
+1 more
GPathogenic
F9
Single nucleotide variant
(synonymous variant)
Thrombophilia, X-linked, due to factor 9 defect
+1 more
GLikely benign
F9
Single nucleotide variant
(synonymous variant)
Thrombophilia, X-linked, due to factor 9 defect
+1 more
GLikely benign
F9
Single nucleotide variant
(synonymous variant)
Thrombophilia, X-linked, due to factor 9 defect
+1 more
GLikely benign
F9
Single nucleotide variant
(intron variant)
Thrombophilia, X-linked, due to factor 9 defect
+1 more
GLikely benign
F9
Single nucleotide variant
(synonymous variant)
Thrombophilia, X-linked, due to factor 9 defect
+1 more
GLikely benign
F9
(R320T +1 more)
Single nucleotide variant
(missense variant)
Thrombophilia, X-linked, due to factor 9 defect
+1 more
GUncertain significance
F9
Single nucleotide variant
(synonymous variant)
Thrombophilia, X-linked, due to factor 9 defect
+1 more
GLikely benign
F9
Single nucleotide variant
(synonymous variant)
Thrombophilia, X-linked, due to factor 9 defect
+1 more
GLikely benign
F9
Deletion
(intron variant)
Thrombophilia, X-linked, due to factor 9 defect
+1 more
GBenign
F9
Single nucleotide variant
(intron variant)
Thrombophilia, X-linked, due to factor 9 defect
+1 more
GLikely benign
F9
Single nucleotide variant
(intron variant)
Thrombophilia, X-linked, due to factor 9 defect
+1 more
GLikely benign
F9
Single nucleotide variant
(synonymous variant)
Hereditary factor IX deficiency disease
+1 more
GLikely benign
F9
Single nucleotide variant
(intron variant)
Hereditary factor IX deficiency disease
+1 more
GLikely benign
F9
Single nucleotide variant
(intron variant)
Thrombophilia, X-linked, due to factor 9 defect
+1 more
GLikely benign
F9
Single nucleotide variant
(synonymous variant +1 more)
Thrombophilia, X-linked, due to factor 9 defect
+1 more
GLikely benign
F9
Single nucleotide variant
(synonymous variant)
Thrombophilia, X-linked, due to factor 9 defect
+1 more
GLikely benign
F9
Single nucleotide variant
(intron variant)
Thrombophilia, X-linked, due to factor 9 defect
+1 more
GLikely benign
F9
Single nucleotide variant
(intron variant)
Thrombophilia, X-linked, due to factor 9 defect
+1 more
GLikely benign
F9
Single nucleotide variant
(synonymous variant)
Thrombophilia, X-linked, due to factor 9 defect
+1 more
GLikely benign
F9
Single nucleotide variant
(synonymous variant)
Thrombophilia, X-linked, due to factor 9 defect
+1 more
GLikely benign
F9
Single nucleotide variant
(intron variant)
Thrombophilia, X-linked, due to factor 9 defect
+1 more
GLikely benign
F9
Single nucleotide variant
(intron variant)
Thrombophilia, X-linked, due to factor 9 defect
+1 more
GLikely benign
F9
Single nucleotide variant
(intron variant)
Thrombophilia, X-linked, due to factor 9 defect
+1 more
GLikely benign
F9
Single nucleotide variant
(intron variant)
Thrombophilia, X-linked, due to factor 9 defect
+1 more
GLikely benign
F9
Single nucleotide variant
(synonymous variant)
Thrombophilia, X-linked, due to factor 9 defect
+1 more
GLikely benign
F9
Single nucleotide variant
(synonymous variant)
Thrombophilia, X-linked, due to factor 9 defect
+1 more
GLikely benign
F9
Single nucleotide variant
(synonymous variant)
Thrombophilia, X-linked, due to factor 9 defect
+1 more
GLikely benign
F9
(S365* +1 more)
Single nucleotide variant
(nonsense)
Hereditary factor IX deficiency disease
+1 more
GPathogenic
F9
Single nucleotide variant
(synonymous variant)
Hereditary factor IX deficiency disease
+1 more
GLikely benign
F9
Single nucleotide variant
(intron variant)
Hereditary factor IX deficiency disease
+1 more
GLikely benign
F9
Single nucleotide variant
(synonymous variant)
Hereditary factor IX deficiency disease
+1 more
GLikely benign
F9
Single nucleotide variant
(synonymous variant)
Hereditary factor IX deficiency disease
+1 more
GLikely benign
F9
Single nucleotide variant
(synonymous variant)
Hereditary factor IX deficiency disease
+1 more
GLikely benign
F9
Single nucleotide variant
(intron variant)
Hereditary factor IX deficiency disease
+1 more
GLikely benign
F9
Single nucleotide variant
(synonymous variant +1 more)
Hereditary factor IX deficiency disease
+1 more
GLikely benign
F9
Single nucleotide variant
(synonymous variant)
Hereditary factor IX deficiency disease
+1 more
GLikely benign
F9
Single nucleotide variant
(synonymous variant)
Hereditary factor IX deficiency disease
+1 more
GLikely benign
F9
Single nucleotide variant
(intron variant)
Hereditary factor IX deficiency disease
+1 more
GLikely benign
F9
Single nucleotide variant
(synonymous variant)
Hereditary factor IX deficiency disease
+1 more
GLikely benign
F9
Deletion
(intron variant)
Thrombophilia, X-linked, due to factor 9 defect
+1 more
GLikely benign
F9
Single nucleotide variant
(intron variant)
Thrombophilia, X-linked, due to factor 9 defect
+1 more
GLikely benign
F9
(R3S)
Single nucleotide variant
(missense variant)
Thrombophilia, X-linked, due to factor 9 defect
+1 more
GLikely benign
F9
Single nucleotide variant
(intron variant)
Thrombophilia, X-linked, due to factor 9 defect
+1 more
GLikely benign
F9
Single nucleotide variant
(synonymous variant)
Thrombophilia, X-linked, due to factor 9 defect
+1 more
GLikely benign
F9
Single nucleotide variant
(synonymous variant)
Thrombophilia, X-linked, due to factor 9 defect
+1 more
GLikely benign
F9
Single nucleotide variant
(intron variant)
Thrombophilia, X-linked, due to factor 9 defect
+1 more
GLikely benign
F9
Single nucleotide variant
(intron variant)
Thrombophilia, X-linked, due to factor 9 defect
+1 more
GLikely benign
F9
Single nucleotide variant
(intron variant)
Thrombophilia, X-linked, due to factor 9 defect
+1 more
GLikely benign
F9
Single nucleotide variant
(synonymous variant)
Thrombophilia, X-linked, due to factor 9 defect
+1 more
GLikely benign
F9
Single nucleotide variant
(intron variant)
Thrombophilia, X-linked, due to factor 9 defect
+1 more
GLikely benign
F9
Single nucleotide variant
(intron variant)
Thrombophilia, X-linked, due to factor 9 defect
+1 more
GLikely benign
F9
Single nucleotide variant
(intron variant)
Thrombophilia, X-linked, due to factor 9 defect
+1 more
GLikely benign
F9
Single nucleotide variant
(intron variant)
Thrombophilia, X-linked, due to factor 9 defect
+1 more
GLikely benign
F9
Single nucleotide variant
(intron variant)
Thrombophilia, X-linked, due to factor 9 defect
+1 more
GLikely benign
F9
(G432S +1 more)
Single nucleotide variant
(missense variant)
Thrombophilia, X-linked, due to factor 9 defect
+1 more
GPathogenic
F9
(W393C +1 more)
Single nucleotide variant
(missense variant)
Thrombophilia, X-linked, due to factor 9 defect
+1 more
GPathogenic
F9
(C407S +1 more)
Single nucleotide variant
(missense variant)
Thrombophilia, X-linked, due to factor 9 defect
+1 more
GLikely pathogenic
F9
(L345H +1 more)
Single nucleotide variant
(missense variant)
Thrombophilia, X-linked, due to factor 9 defect
+1 more
GPathogenic
F9
(F360S +1 more)
Single nucleotide variant
(missense variant)
Thrombophilia, X-linked, due to factor 9 defect
+1 more
GLikely pathogenic
F9
(N290K +1 more)
Single nucleotide variant
(missense variant)
Thrombophilia, X-linked, due to factor 9 defect
+1 more
GUncertain significance
F9
(A317T +1 more)
Single nucleotide variant
(missense variant)
Thrombophilia, X-linked, due to factor 9 defect
+1 more
GUncertain significance
F9
(D315G +1 more)
Single nucleotide variant
(missense variant)
Thrombophilia, X-linked, due to factor 9 defect
+1 more
GPathogenic
F9
Single nucleotide variant
(synonymous variant)
Thrombophilia, X-linked, due to factor 9 defect
+1 more
GPathogenic
F9
(S182* +1 more)
Single nucleotide variant
(nonsense)
Thrombophilia, X-linked, due to factor 9 defect
+1 more
GPathogenic
F9
(T84I)
Single nucleotide variant
(missense variant)
Thrombophilia, X-linked, due to factor 9 defect
+1 more
GLikely pathogenic
F9
(E79V)
Single nucleotide variant
(missense variant)
Thrombophilia, X-linked, due to factor 9 defect
+1 more
GLikely pathogenic
F9
(N48D)
Single nucleotide variant
(missense variant)
Thrombophilia, X-linked, due to factor 9 defect
+1 more
GPathogenic
F9
Single nucleotide variant
(intron variant)
Hereditary factor IX deficiency disease
+1 more
GLikely benign
F9
Single nucleotide variant
(synonymous variant)
Hereditary factor IX deficiency disease
+1 more
GLikely benign
F9
Single nucleotide variant
(intron variant)
Hereditary factor IX deficiency disease
+1 more
GLikely benign
F9
Single nucleotide variant
(synonymous variant)
Hereditary factor IX deficiency disease
+1 more
GLikely benign
F9
Single nucleotide variant
(intron variant)
Hereditary factor IX deficiency disease
+1 more
GLikely benign
F9
(V248fs +1 more)
Deletion
(frameshift variant)
Hereditary factor IX deficiency disease
+1 more
GPathogenic
F9
Single nucleotide variant
(synonymous variant)
Hereditary factor IX deficiency disease
+1 more
GLikely benign
F9
Single nucleotide variant
(intron variant)
Hereditary factor IX deficiency disease
GBenign
F9
(G412E +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor IX deficiency disease
GPathogenic
F9
(C297F +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor IX deficiency disease
GLikely pathogenic
F9
Single nucleotide variant
(intron variant)
Hereditary factor IX deficiency disease
+2 more
GLikely benign
F9
(E282G +1 more)
Single nucleotide variant
(missense variant)
Hereditary factor IX deficiency disease
GLikely pathogenic
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