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Links from MedGen

Items: 1 to 100 of 415

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FANCI
(S472fs +1 more)
Duplication
(frameshift variant)
Fanconi anemia complementation group I
GLikely pathogenic
FANCI
(Q204* +1 more)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group I
GLikely pathogenic
FANCI
Single nucleotide variant
(splice donor variant)
Fanconi anemia complementation group I
GLikely pathogenic
FANCI
(N646fs +1 more)
Deletion
(frameshift variant)
Fanconi anemia complementation group I
GLikely pathogenic
FANCI
(S767fs +1 more)
Deletion
(frameshift variant +1 more)
Fanconi anemia complementation group I
GLikely pathogenic
FANCI
Single nucleotide variant
(splice donor variant)
Fanconi anemia complementation group I
GLikely pathogenic
FANCI
(Y1039fs +2 more)
Deletion
(frameshift variant)
Fanconi anemia complementation group I
+1 more
GPathogenic/Likely pathogenic
FANCI
(K622* +1 more)
Duplication
(nonsense)
Fanconi anemia complementation group I
GLikely pathogenic
FANCI
(E602fs +1 more)
Deletion
(frameshift variant)
Fanconi anemia complementation group I
GLikely pathogenic
FANCI
(S120fs +1 more)
Duplication
(frameshift variant)
Fanconi anemia complementation group I
GLikely pathogenic
FANCI
(K141fs +1 more)
Deletion
(frameshift variant)
Fanconi anemia complementation group I
GLikely pathogenic
FANCI
(Q323* +1 more)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group I
GLikely pathogenic
FANCI
Single nucleotide variant
(splice acceptor variant)
Fanconi anemia complementation group I
GLikely pathogenic
FANCI
(Y1039* +2 more)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group I
GLikely pathogenic
FANCI
(K805fs +2 more)
Deletion
(frameshift variant)
Fanconi anemia complementation group I
GLikely pathogenic
FANCI
Single nucleotide variant
(splice acceptor variant)
Fanconi anemia
+1 more
GLikely pathogenic
FANCI
(Q594* +1 more)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group I
GLikely pathogenic
FANCI
(C491fs +1 more)
Deletion
(frameshift variant)
Fanconi anemia complementation group I
GLikely pathogenic
FANCI
Single nucleotide variant
(splice acceptor variant)
Fanconi anemia
+1 more
GLikely pathogenic
FANCI
(V893fs +2 more)
Deletion
(frameshift variant)
Fanconi anemia complementation group I
GPathogenic
FANCI
(K303* +1 more)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group I
GLikely pathogenic
FANCI
(D783fs +1 more)
Deletion
(frameshift variant +1 more)
Fanconi anemia complementation group I
GLikely pathogenic
FANCI
(K455fs +1 more)
Duplication
(frameshift variant)
Fanconi anemia
+1 more
GPathogenic/Likely pathogenic
FANCI
Single nucleotide variant
(splice acceptor variant)
Fanconi anemia complementation group I
GLikely pathogenic
FANCI
Single nucleotide variant
(splice acceptor variant)
Fanconi anemia complementation group I
GLikely pathogenic
FANCI
(Y606* +1 more)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group I
GLikely pathogenic
FANCI
(E801* +2 more)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group I
+1 more
GPathogenic/Likely pathogenic
FANCI
(L1174fs +2 more)
Deletion
(frameshift variant)
Fanconi anemia complementation group I
GLikely pathogenic
FANCI
(L899* +2 more)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group I
GLikely pathogenic
FANCI
(Q159fs +1 more)
Deletion
(frameshift variant)
Fanconi anemia complementation group I
GLikely pathogenic
FANCI
Single nucleotide variant
(splice donor variant)
Fanconi anemia complementation group I
GLikely pathogenic
FANCI
Single nucleotide variant
(splice acceptor variant)
Fanconi anemia complementation group I
GLikely pathogenic
FANCI
Single nucleotide variant
(splice acceptor variant)
Fanconi anemia complementation group I
GLikely pathogenic
FANCI
Deletion
(nonsense)
Fanconi anemia complementation group I
GLikely pathogenic
FANCI
(D80fs)
Duplication
(frameshift variant +1 more)
Fanconi anemia complementation group I
+1 more
GPathogenic/Likely pathogenic
FANCI
(Q568* +1 more)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group I
GLikely pathogenic
FANCI
Single nucleotide variant
(splice donor variant)
Fanconi anemia
+1 more
GLikely pathogenic
FANCI
Single nucleotide variant
(splice donor variant)
Fanconi anemia complementation group I
GLikely pathogenic
FANCI
(D563fs +1 more)
Duplication
(frameshift variant)
Fanconi anemia complementation group I
GLikely pathogenic
FANCI
Single nucleotide variant
(splice donor variant)
Fanconi anemia complementation group I
GLikely pathogenic
FANCI
(R851fs +2 more)
Microsatellite
(frameshift variant)
Fanconi anemia
+1 more
GPathogenic/Likely pathogenic
FANCI
(Q540* +1 more)
Single nucleotide variant
(nonsense)
Fanconi anemia
+1 more
GPathogenic/Likely pathogenic
FANCI
(E291fs +1 more)
Duplication
(frameshift variant)
Fanconi anemia complementation group I
GLikely pathogenic
FANCI
(S240fs +1 more)
Deletion
(frameshift variant)
Fanconi anemia complementation group I
GLikely pathogenic
FANCI
(S168* +1 more)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group I
GLikely pathogenic
FANCI
(E84fs)
Deletion
(frameshift variant +1 more)
Fanconi anemia complementation group I
GLikely pathogenic
FANCI
(L1049fs +2 more)
Deletion
(frameshift variant)
Fanconi anemia
+1 more
GPathogenic/Likely pathogenic
FANCI
Single nucleotide variant
(splice donor variant)
Fanconi anemia complementation group I
GLikely pathogenic
FANCI
(L554I +1 more)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group I
GUncertain significance
FANCI
(I182fs +1 more)
Deletion
(frameshift variant)
Fanconi anemia complementation group I
GLikely pathogenic
FANCI
(D189G +1 more)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group I
GUncertain significance
FANCI
(Q249* +1 more)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group I
GLikely pathogenic
FANCI
(T793fs +2 more)
Microsatellite
(frameshift variant)
Fanconi anemia complementation group I
GLikely pathogenic
FANCI
(L398fs +1 more)
Deletion
(frameshift variant)
Fanconi anemia complementation group I
GLikely pathogenic
FANCI
(L552fs +1 more)
Microsatellite
(frameshift variant)
Fanconi anemia complementation group I
GLikely pathogenic
FANCI
(L816* +2 more)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group I
GLikely pathogenic
FANCI
(L164fs +1 more)
Deletion
(frameshift variant)
Fanconi anemia complementation group I
GLikely pathogenic
FANCI
Single nucleotide variant
(splice acceptor variant)
Fanconi anemia complementation group I
+1 more
GLikely pathogenic
FANCI
Deletion
Fanconi anemia complementation group I
GLikely pathogenic
FANCI
Single nucleotide variant
(splice acceptor variant)
Fanconi anemia complementation group I
GLikely pathogenic
FANCI
(Q1089* +2 more)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group I
GLikely pathogenic
FANCI
(V136fs +1 more)
Microsatellite
(frameshift variant)
Fanconi anemia complementation group I
GLikely pathogenic
FANCI
(E1004fs +2 more)
Indel
(frameshift variant)
Fanconi anemia complementation group I
GLikely pathogenic
FANCI
(K807fs +2 more)
Microsatellite
(frameshift variant)
Fanconi anemia complementation group I
GLikely pathogenic
FANCI
(F1051L +2 more)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group I
GUncertain significance
FANCI
(I68M)
Single nucleotide variant
(missense variant +1 more)
Fanconi anemia complementation group I
GUncertain significance
FANCI
(Q258E +1 more)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group I
GUncertain significance
FANCI
(K130T +1 more)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group I
GUncertain significance
FANCI
(P414S +1 more)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group I
+1 more
GUncertain significance
FANCI
(R786* +1 more)
Single nucleotide variant
(intron variant +1 more)
Fanconi anemia
+1 more
GPathogenic/Likely pathogenic
FANCI
(Q823* +1 more)
Single nucleotide variant
(nonsense +1 more)
Fanconi anemia complementation group I
+1 more
GPathogenic/Likely pathogenic
FANCI
(R117* +1 more)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group I
+1 more
GPathogenic/Likely pathogenic
FANCI
(Q1002* +2 more)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group I
+1 more
GPathogenic
FANCI
(S1175fs +2 more)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic
FANCI
(Q1031R +2 more)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group I
+1 more
GUncertain significance
FANCI
Single nucleotide variant
(synonymous variant)
Fanconi anemia complementation group I
+1 more
GLikely benign
FANCI
(V290A +1 more)
Single nucleotide variant
(missense variant)
Fanconi anemia
+1 more
GUncertain significance
FANCI
(A1144P +2 more)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group I
+2 more
GUncertain significance
FANCI
Single nucleotide variant
(intron variant)
Fanconi anemia complementation group I
+1 more
GLikely benign
FANCI
Single nucleotide variant
(intron variant)
Fanconi anemia complementation group I
+1 more
GLikely benign
FANCI
Single nucleotide variant
(intron variant)
Fanconi anemia complementation group I
+1 more
GLikely benign
FANCI
Single nucleotide variant
(intron variant)
Fanconi anemia
+1 more
GLikely benign
FANCI
Single nucleotide variant
(intron variant)
Fanconi anemia
+1 more
GLikely benign
FANCI
Single nucleotide variant
(intron variant)
Fanconi anemia
+1 more
GLikely benign
FANCI
Single nucleotide variant
(synonymous variant +1 more)
Fanconi anemia
+1 more
GLikely benign
FANCI
Single nucleotide variant
(intron variant)
Fanconi anemia
+1 more
GLikely benign
FANCI
Single nucleotide variant
(synonymous variant)
Fanconi anemia
+1 more
GBenign/Likely benign
FANCI
Single nucleotide variant
(intron variant)
Fanconi anemia
+1 more
GLikely benign
FANCI
Single nucleotide variant
(intron variant)
Fanconi anemia complementation group I
+1 more
GLikely benign
FANCI
Deletion
(intron variant)
Fanconi anemia
+1 more
GLikely benign
FANCI
Single nucleotide variant
(intron variant)
Fanconi anemia
+1 more
GLikely benign
FANCI
Single nucleotide variant
(synonymous variant)
Fanconi anemia
+1 more
GLikely benign
FANCI
Single nucleotide variant
(synonymous variant)
Fanconi anemia complementation group I
+1 more
GLikely benign
FANCI
Single nucleotide variant
(intron variant)
Fanconi anemia complementation group I
+1 more
GLikely benign
FANCI
(I140V +1 more)
Single nucleotide variant
(missense variant)
Fanconi anemia
+1 more
GUncertain significance
FANCI
(K140E +1 more)
Single nucleotide variant
(missense variant)
Fanconi anemia
+1 more
GUncertain significance
FANCI
Single nucleotide variant
(splice donor variant)
Fanconi anemia
+1 more
GLikely pathogenic
FANCI
(I1250V +2 more)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group I
+1 more
GUncertain significance
FANCI
(N259S +1 more)
Single nucleotide variant
(missense variant)
Fanconi anemia
+1 more
GUncertain significance
FANCI
(H1173Y +2 more)
Single nucleotide variant
(missense variant)
Fanconi anemia
+1 more
GUncertain significance
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