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Links from MedGen

Items: 1 to 100 of 150

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FANCF
(L103fs)
Duplication
(frameshift variant)
Fanconi anemia complementation group F
GLikely pathogenic
FANCF, LOC130005443
(E340*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group F
GLikely pathogenic
FANCF
Deletion
(frameshift variant)
Fanconi anemia complementation group F
GLikely pathogenic
FANCF
(G79*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group F
GLikely pathogenic
FANCF
(L214fs)
Duplication
(frameshift variant)
Fanconi anemia complementation group F
GLikely pathogenic
FANCF
(W26*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group F
GLikely pathogenic
FANCF
(E127*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group F
GLikely pathogenic
FANCF
(F83S)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group F
GUncertain significance
FANCF
(E246fs)
Deletion
(frameshift variant)
Fanconi anemia complementation group F
GLikely pathogenic
FANCF
(M145fs)
Deletion
(frameshift variant)
Fanconi anemia complementation group F
GLikely pathogenic
FANCF
(T56fs)
Deletion
(frameshift variant)
Fanconi anemia complementation group F
GLikely pathogenic
FANCF
(V177fs)
Deletion
(frameshift variant)
Fanconi anemia complementation group F
GLikely pathogenic
FANCF
(S265*)
Duplication
(nonsense)
Fanconi anemia complementation group F
GLikely pathogenic
FANCF
(E220*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group F
+1 more
GPathogenic/Likely pathogenic
FANCF
Microsatellite
(nonsense)
Fanconi anemia
+1 more
GPathogenic/Likely pathogenic
FANCF
(Q68*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group F
GLikely pathogenic
FANCF
(H45fs)
Microsatellite
(frameshift variant)
Fanconi anemia
+1 more
GPathogenic/Likely pathogenic
FANCF, LOC130005444
(Q300*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group F
GLikely pathogenic
FANCF
(Q130fs)
Duplication
(frameshift variant)
Fanconi anemia complementation group F
+2 more
GPathogenic/Likely pathogenic
FANCF
(Q166P)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group F
GUncertain significance
FANCF
(P230S)
Single nucleotide variant
(missense variant)
Fanconi anemia
+1 more
GUncertain significance
FANCF
(L95fs)
Microsatellite
(frameshift variant)
Fanconi anemia complementation group F
GPathogenic
FANCF
(Y40C)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group F
+1 more
GUncertain significance
FANCF
(L35W)
Single nucleotide variant
(missense variant)
Fanconi anemia
+1 more
GUncertain significance
FANCF
(R101P)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group F
+2 more
GUncertain significance
FANCF
(A124S)
Single nucleotide variant
(missense variant)
Fanconi anemia
+1 more
GUncertain significance
FANCF
(Q235H)
Single nucleotide variant
(missense variant)
Fanconi anemia
+1 more
GUncertain significance
FANCF, LOC130005443
(P318S)
Single nucleotide variant
(missense variant)
Fanconi anemia
+1 more
GUncertain significance
FANCF
(R140Q)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group F
+1 more
GUncertain significance
FANCF
(P117S)
Single nucleotide variant
(missense variant)
Fanconi anemia
+1 more
GUncertain significance
FANCF
(V273fs)
Deletion
(frameshift variant)
Fanconi anemia complementation group F
GLikely pathogenic
FANCF
(H267Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
FANCF
(K179fs)
Deletion
(frameshift variant)
Fanconi anemia complementation group F
GPathogenic
FANCF
Deletion
(frameshift variant)
Fanconi anemia complementation group F
GPathogenic
FANCF
(D9fs)
Insertion
(frameshift variant)
Fanconi anemia
+1 more
GPathogenic
FANCF
(T30S)
Single nucleotide variant
(missense variant)
Fanconi anemia
+2 more
GUncertain significance
FANCF, LOC130005443
(T331I)
Single nucleotide variant
(missense variant)
Fanconi anemia
+2 more
GUncertain significance
FANCF
(R195S)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group F
+1 more
GUncertain significance
FANCF
(A206V)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group F
+2 more
GUncertain significance
FANCF
(M145V)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group F
+1 more
GUncertain significance
FANCF
(Y274S)
Single nucleotide variant
(missense variant)
Fanconi anemia
+1 more
GUncertain significance
FANCF
(P28R)
Single nucleotide variant
(missense variant)
Fanconi anemia
+1 more
GUncertain significance
FANCF
(R187G)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group F
+1 more
GUncertain significance
FANCF
(Y151F)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group F
+2 more
GUncertain significance
FANCF
(Q113R)
Single nucleotide variant
(missense variant)
Fanconi anemia
+1 more
GUncertain significance
FANCF
(E194G)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group F
GUncertain significance
FANCF
(G118V)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group F
GUncertain significance
FANCF
(R122G)
Single nucleotide variant
(missense variant)
Fanconi anemia
+1 more
GUncertain significance
FANCF
(V31M)
Single nucleotide variant
(missense variant)
Fanconi anemia
+2 more
GUncertain significance
FANCF, LOC130005444
(W304S)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group F
+1 more
GUncertain significance
FANCF
(L111P)
Single nucleotide variant
(missense variant)
Fanconi anemia
+2 more
GUncertain significance
FANCF
(E127G)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group F
+1 more
GUncertain significance
FANCF
(T20A)
Single nucleotide variant
(missense variant)
Fanconi anemia
+1 more
GUncertain significance
FANCF
(Q166*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group F
GPathogenic
FANCF
(R74fs)
Deletion
(frameshift variant)
Fanconi anemia complementation group F
+1 more
GPathogenic
FANCF
(A29fs)
Deletion
(frameshift variant)
Fanconi anemia complementation group F
+1 more
GPathogenic
FANCF
Single nucleotide variant
(3 prime UTR variant)
Fanconi anemia complementation group F
GUncertain significance
FANCF
Single nucleotide variant
(3 prime UTR variant)
Fanconi anemia complementation group F
GUncertain significance
FANCF
Single nucleotide variant
(3 prime UTR variant)
Fanconi anemia complementation group F
GUncertain significance
FANCF
Single nucleotide variant
(3 prime UTR variant)
Fanconi anemia complementation group F
GBenign
FANCF
Single nucleotide variant
(3 prime UTR variant)
Fanconi anemia complementation group F
GUncertain significance
FANCF
Single nucleotide variant
(3 prime UTR variant)
Fanconi anemia complementation group F
GUncertain significance
FANCF
Single nucleotide variant
(3 prime UTR variant)
Fanconi anemia complementation group F
GUncertain significance
FANCF
Single nucleotide variant
(3 prime UTR variant)
Fanconi anemia complementation group F
GUncertain significance
FANCF
Single nucleotide variant
(3 prime UTR variant)
Fanconi anemia complementation group F
GBenign
FANCF
(H227R)
Single nucleotide variant
(missense variant)
Fanconi anemia
+1 more
GUncertain significance
FANCF, LOC130005443
(K324E)
Single nucleotide variant
(missense variant)
Fanconi anemia
+1 more
GConflicting classifications of pathogenicity
FANCF
Single nucleotide variant
(3 prime UTR variant)
Fanconi anemia complementation group F
GUncertain significance
FANCF
Single nucleotide variant
(3 prime UTR variant)
Fanconi anemia complementation group F
GUncertain significance
FANCF
Single nucleotide variant
(3 prime UTR variant)
Fanconi anemia complementation group F
GUncertain significance
FANCF, LOC130005443
(R355C)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group F
GUncertain significance
LOC130005443, FANCF
(R355H)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group F
+1 more
GUncertain significance
FANCF
Single nucleotide variant
(3 prime UTR variant)
Fanconi anemia complementation group F
GUncertain significance
FANCF
Single nucleotide variant
(3 prime UTR variant)
Fanconi anemia complementation group F
GUncertain significance
FANCF
Single nucleotide variant
(3 prime UTR variant)
Fanconi anemia complementation group F
GLikely benign
FANCF
Single nucleotide variant
(3 prime UTR variant)
Fanconi anemia complementation group F
GUncertain significance
FANCF
(T21S)
Single nucleotide variant
(missense variant)
Fanconi anemia
+1 more
GUncertain significance
FANCF
(Q65*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group F
+2 more
GLikely pathogenic
FANCF
Deletion
(nonsense)
Fanconi anemia
+2 more
GPathogenic/Likely pathogenic
FANCF
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
FANCF, LOC130005443
(C315fs)
Duplication
(frameshift variant)
Fanconi anemia complementation group F
+1 more
GConflicting classifications of pathogenicity
FANCF
(M163I)
Single nucleotide variant
(missense variant)
Fanconi anemia
+1 more
GUncertain significance
FANCF
(P213S)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group F
+1 more
GUncertain significance
FANCF
(G71S)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group F
+1 more
GUncertain significance
FANCF
(A107P)
Indel
(missense variant)
Fanconi anemia
+1 more
GUncertain significance
FANCF
(R50P)
Single nucleotide variant
(missense variant)
Fanconi anemia
+2 more
GUncertain significance
FANCF
(Q312H)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
FANCF
(S265R)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group F
+1 more
GUncertain significance
FANCF
(S191R)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
FANCF
(L5P)
Single nucleotide variant
(missense variant)
Fanconi anemia
+2 more
GUncertain significance
FANCF
(R216P)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
FANCF, LOC130005443
(Q363*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GUncertain significance
FANCF
(N149S)
Single nucleotide variant
(missense variant)
Fanconi anemia
+1 more
GUncertain significance
FANCF
(V23F)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group F
+1 more
GUncertain significance
FANCF
Single nucleotide variant
Fanconi anemia complementation group F
GUncertain significance
FANCF
Single nucleotide variant
Fanconi anemia complementation group F
GUncertain significance
FANCF
(M1T)
Single nucleotide variant
(missense variant +1 more)
Fanconi anemia
+1 more
GConflicting classifications of pathogenicity
FANCF
(A34V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
FANCF
Single nucleotide variant
(synonymous variant)
Fanconi anemia
+2 more
GBenign/Likely benign
FANCF
Single nucleotide variant
(synonymous variant)
Fanconi anemia
+1 more
GConflicting classifications of pathogenicity
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