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Links from MedGen

Items: 1 to 100 of 465

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AOPEP, FANCC
(S279*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group C
GLikely pathogenic
AOPEP, FANCC
Deletion
(splice donor variant)
Fanconi anemia complementation group C
GLikely pathogenic
AOPEP, FANCC
(L303fs)
Deletion
(frameshift variant)
Fanconi anemia complementation group C
GLikely pathogenic
AOPEP, FANCC
Deletion
(nonsense)
Fanconi anemia complementation group C
GLikely pathogenic
AOPEP, FANCC
(W364*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group C
GLikely pathogenic
FANCC
Single nucleotide variant
(splice acceptor variant)
Fanconi anemia complementation group C
GLikely pathogenic
AOPEP, FANCC
(W424*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group C
GLikely pathogenic
AOPEP, FANCC
(R436fs)
Deletion
(frameshift variant)
Fanconi anemia complementation group C
GLikely pathogenic
AOPEP, FANCC
(L183fs)
Deletion
(frameshift variant)
Fanconi anemia complementation group C
GLikely pathogenic
FANCC
Single nucleotide variant
(splice acceptor variant)
Fanconi anemia complementation group C
GLikely pathogenic
FANCC
(E130fs)
Deletion
(frameshift variant)
Fanconi anemia complementation group C
GLikely pathogenic
AOPEP, FANCC
Deletion
(splice donor variant)
Fanconi anemia complementation group C
GPathogenic
FANCC
(E43fs)
Duplication
(frameshift variant)
Fanconi anemia complementation group C
GLikely pathogenic
AOPEP, FANCC
(Q485fs)
Deletion
(frameshift variant)
Fanconi anemia complementation group C
GLikely pathogenic
FANCC
(S57fs)
Deletion
(frameshift variant)
Fanconi anemia complementation group C
GLikely pathogenic
FANCC
(M55fs)
Deletion
(frameshift variant)
Fanconi anemia complementation group C
GLikely pathogenic
FANCC
(Q136*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group C
GLikely pathogenic
FANCC
Deletion
Fanconi anemia complementation group C
GLikely pathogenic
DCLRE1B
Single nucleotide variant
(synonymous variant)
Fanconi anemia complementation group C
GPathogenic
DCLRE1B
(D83G)
Single nucleotide variant
(missense variant +1 more)
Fanconi anemia complementation group C
GPathogenic
AOPEP, FANCC
(D197E)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group C
GUncertain significance
FANCC
(Q42*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group C
+1 more
GPathogenic/Likely pathogenic
FANCC
(W92*)
Single nucleotide variant
(nonsense)
Fanconi anemia
+1 more
GPathogenic/Likely pathogenic
AOPEP, FANCC
(G401fs)
Duplication
(frameshift variant)
Fanconi anemia complementation group C
+1 more
GPathogenic/Likely pathogenic
FANCC
Duplication
Fanconi anemia complementation group C
GLikely pathogenic
AOPEP, FANCC
(E549Q)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
AOPEP, FANCC
(C187fs)
Deletion
(frameshift variant)
Fanconi anemia complementation group C
GLikely pathogenic
FANCC
(C75*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group C
GLikely pathogenic
FANCC
(C95fs)
Deletion
(frameshift variant)
Fanconi anemia complementation group C
GLikely pathogenic
AOPEP, FANCC
(L228fs)
Duplication
(frameshift variant)
Fanconi anemia complementation group C
GLikely pathogenic
FANCC
(G106fs)
Insertion
(frameshift variant)
Fanconi anemia complementation group C
GLikely pathogenic
FANCC
(Y83*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group C
GLikely pathogenic
AOPEP, FANCC
(Y343*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group C
GLikely pathogenic
AOPEP, FANCC
(C274*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group C
GLikely pathogenic
FANCC
(Q172*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group C
GLikely pathogenic
FANCC
(Q87*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group C
GPathogenic
AOPEP, FANCC
(K552*)
Duplication
(nonsense)
Fanconi anemia complementation group C
GPathogenic
FANCC
Single nucleotide variant
(intron variant)
Fanconi anemia
+1 more
GLikely benign
AOPEP, FANCC
Single nucleotide variant
(intron variant)
Fanconi anemia
+1 more
GLikely benign
AOPEP, FANCC
Single nucleotide variant
(intron variant)
Fanconi anemia
+1 more
GLikely benign
AOPEP, FANCC
(P418S)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
FANCC
(C95fs)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
+2 more
GPathogenic/Likely pathogenic
FANCC
(V131I)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group C
+2 more
GUncertain significance
AOPEP, FANCC
(M236fs)
Deletion
(frameshift variant)
Fanconi anemia
+1 more
GPathogenic/Likely pathogenic
AOPEP, FANCC
(L215F)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group C
GUncertain significance
FANCC
Deletion
Fanconi anemia complementation group C
GLikely pathogenic
FANCC
(M1T)
Single nucleotide variant
(missense variant +1 more)
Fanconi anemia complementation group C
GLikely pathogenic
AOPEP, FANCC
(F335fs)
Deletion
(frameshift variant)
Fanconi anemia complementation group C
GPathogenic
FANCC
(S5L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
FANCC
(N164T)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
FANCC
(Q24*)
Single nucleotide variant
(nonsense)
Fanconi anemia
+2 more
GPathogenic/Likely pathogenic
AOPEP, FANCC
(D306V)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
FANCC
Single nucleotide variant
(intron variant)
Fanconi anemia complementation group C
+1 more
GBenign
AOPEP, FANCC
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+2 more
GLikely benign
FANCC
(V154fs)
Deletion
(frameshift variant)
Fanconi anemia
+1 more
GPathogenic/Likely pathogenic
AOPEP, FANCC
(S459fs)
Deletion
(frameshift variant)
Fanconi anemia complementation group C
+2 more
GPathogenic/Likely pathogenic
AOPEP, FANCC
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
FANCC
(I98T)
Single nucleotide variant
(missense variant)
Fanconi anemia
+1 more
GUncertain significance
AOPEP, FANCC
(H452R)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
AOPEP, FANCC
(R245Q)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group C
+2 more
GUncertain significance
AOPEP, FANCC
(V379A)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
FANCC, AOPEP
Single nucleotide variant
(intron variant)
Fanconi anemia complementation group C
GUncertain significance
AOPEP, FANCC
(D195H)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group C
+2 more
GUncertain significance
AOPEP, FANCC
(A222D)
Single nucleotide variant
(missense variant)
Fanconi anemia
+1 more
GUncertain significance
FANCC
(L155*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group C
GLikely pathogenic
AOPEP, FANCC
(E221*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group C
GLikely pathogenic
AOPEP, FANCC
(E265*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group C
GLikely pathogenic
AOPEP, FANCC
(Y343*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group C
GLikely pathogenic
AOPEP, FANCC
(G362*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group C
GLikely pathogenic
FANCC
(W92*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group C
GLikely pathogenic
FANCC
(S108*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group C
GLikely pathogenic
FANCC
(L118*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group C
GLikely pathogenic
AOPEP, FANCC
(Q437R)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
AOPEP, FANCC
Single nucleotide variant
(intron variant)
Fanconi anemia
+2 more
GUncertain significance
FANCC, AOPEP
(A415E)
Single nucleotide variant
(missense variant)
Fanconi anemia
+1 more
GConflicting classifications of pathogenicity
FANCC
(S26T)
Single nucleotide variant
(missense variant)
Fanconi anemia
GUncertain significance
AOPEP, FANCC
Insertion
(splice donor variant)
Fanconi anemia
+2 more
GLikely pathogenic
AOPEP, FANCC
(D295fs)
Duplication
(frameshift variant)
Fanconi anemia
+1 more
GPathogenic/Likely pathogenic
FANCC, LOC130002128
Deletion
(genic upstream transcript variant)
Fanconi anemia complementation group C
GUncertain significance
FANCC, AOPEP
(W533*)
Insertion
(nonsense)
Fanconi anemia complementation group C
GPathogenic
AOPEP, FANCC
(I518fs)
Duplication
(frameshift variant)
Fanconi anemia complementation group C
GPathogenic
FANCC, AOPEP
Single nucleotide variant
(synonymous variant)
Fanconi anemia complementation group C
GPathogenic
AOPEP, FANCC
(W403*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group C
GLikely pathogenic
AOPEP, FANCC
Single nucleotide variant
(splice acceptor variant)
not provided
+2 more
GLikely pathogenic
AOPEP, FANCC
Single nucleotide variant
(synonymous variant)
Fanconi anemia complementation group C
GLikely pathogenic
AOPEP, FANCC
(E221fs)
Deletion
(frameshift variant)
Fanconi anemia complementation group C
GPathogenic
FANCC
Deletion
Fanconi anemia complementation group C
GPathogenic
FANCC
Indel
(splice acceptor variant +1 more)
Fanconi anemia complementation group C
GPathogenic
FANCC
(Q3fs)
Deletion
(frameshift variant)
Fanconi anemia complementation group C
GPathogenic
FANCC
Deletion
Fanconi anemia complementation group C
GPathogenic
AOPEP, FANCC
(L190F)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
FANCC
(S156fs)
Deletion
(frameshift variant)
Fanconi anemia complementation group C
GPathogenic
FANCC, LOC130002128
Deletion
(splice donor variant)
Fanconi anemia complementation group C
GPathogenic
AOPEP, FANCC
Single nucleotide variant
(3 prime UTR variant)
Fanconi anemia complementation group C
GUncertain significance
AOPEP, FANCC
Single nucleotide variant
(3 prime UTR variant)
Fanconi anemia complementation group C
GLikely benign
AOPEP, FANCC
Single nucleotide variant
(3 prime UTR variant)
Fanconi anemia complementation group C
GLikely benign
AOPEP, FANCC
Single nucleotide variant
(3 prime UTR variant)
Fanconi anemia complementation group C
GUncertain significance
AOPEP, FANCC
Single nucleotide variant
(3 prime UTR variant)
Fanconi anemia complementation group C
GUncertain significance
AOPEP, FANCC
Single nucleotide variant
(intron variant)
Fanconi anemia complementation group C
GUncertain significance
AOPEP, FANCC
Single nucleotide variant
(3 prime UTR variant)
Fanconi anemia complementation group C
GUncertain significance
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