U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 140

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FANCL
(W212* +3 more)
Single nucleotide variant
(nonsense)
Fanconi anemia
+1 more
GPathogenic/Likely pathogenic
FANCL
Microsatellite
(splice donor variant)
Fanconi anemia complementation group L
GLikely pathogenic
FANCL
(E239fs +3 more)
Deletion
(frameshift variant)
Fanconi anemia complementation group L
GLikely pathogenic
FANCL
(V24fs)
Deletion
(frameshift variant)
Fanconi anemia complementation group L
GLikely pathogenic
FANCL
Deletion
(inframe_indel +1 more)
Fanconi anemia
+1 more
GPathogenic/Likely pathogenic
FANCL
(E358* +3 more)
Single nucleotide variant
(nonsense)
Fanconi anemia
+1 more
GLikely pathogenic
FANCL
(K22*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group L
GLikely pathogenic
FANCL
(I336fs +3 more)
Deletion
(frameshift variant)
Fanconi anemia complementation group L
GLikely pathogenic
FANCL
Microsatellite
(frameshift variant +1 more)
Fanconi anemia complementation group L
+1 more
GLikely pathogenic
FANCL
(G344fs +3 more)
Duplication
(frameshift variant)
Fanconi anemia complementation group L
GLikely pathogenic
FANCL
(Q322* +3 more)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group L
GLikely pathogenic
FANCL
(S112*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group L
GLikely pathogenic
FANCL
(S30*)
Single nucleotide variant
(nonsense)
Fanconi anemia
+1 more
GPathogenic/Likely pathogenic
FANCL
(L53*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group L
GLikely pathogenic
FANCL
(L197fs +3 more)
Deletion
(frameshift variant)
Fanconi anemia complementation group L
GLikely pathogenic
FANCL
(M247fs +3 more)
Duplication
(frameshift variant)
Fanconi anemia complementation group L
GLikely pathogenic
FANCL
Single nucleotide variant
(splice donor variant)
Fanconi anemia complementation group L
GLikely pathogenic
FANCL
(W274* +3 more)
Single nucleotide variant
(nonsense)
Fanconi anemia
+1 more
GPathogenic/Likely pathogenic
FANCL
Single nucleotide variant
(splice acceptor variant)
Fanconi anemia complementation group L
+2 more
GConflicting classifications of pathogenicity
FANCL
(N50fs)
Indel
(frameshift variant)
Fanconi anemia complementation group L
GUncertain significance
FANCL
(H244Y +3 more)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group L
GUncertain significance
FANCL
(N19S)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group L
GUncertain significance
FANCL
Deletion
(splice donor variant)
Fanconi anemia complementation group L
+1 more
GLikely pathogenic
FANCL
(R10fs)
Deletion
(frameshift variant)
Fanconi anemia
+1 more
GPathogenic/Likely pathogenic
FANCL
(L8fs)
Duplication
(frameshift variant +1 more)
Fanconi anemia complementation group L
GLikely pathogenic
FANCL
(Q75*)
Single nucleotide variant
(nonsense)
Fanconi anemia
+1 more
GPathogenic/Likely pathogenic
FANCL
(L214F +3 more)
Single nucleotide variant
(missense variant)
Fanconi anemia
+1 more
GUncertain significance
FANCL
Single nucleotide variant
(intron variant)
Fanconi anemia
+1 more
GLikely benign
FANCL, VRK2
Duplication
(3 prime UTR variant +1 more)
Fanconi anemia
+1 more
GLikely benign
FANCL
Single nucleotide variant
(intron variant)
Fanconi anemia
+1 more
GLikely benign
FANCL
Single nucleotide variant
(intron variant)
Fanconi anemia
+1 more
GBenign/Likely benign
FANCL
Single nucleotide variant
(synonymous variant)
Fanconi anemia complementation group L
+1 more
GLikely benign
FANCL
Single nucleotide variant
(intron variant)
Fanconi anemia
+1 more
GLikely benign
FANCL
Single nucleotide variant
(splice donor variant)
Fanconi anemia
+1 more
GConflicting classifications of pathogenicity
FANCL
(M209T +3 more)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group L
+1 more
GUncertain significance
FANCL
(A103E)
Single nucleotide variant
(missense variant)
Fanconi anemia
+1 more
GUncertain significance
FANCL
(M81V)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group L
+1 more
GUncertain significance
FANCL
(Q287R +3 more)
Single nucleotide variant
(missense variant)
Fanconi anemia
+1 more
GUncertain significance
FANCL
(R10G)
Single nucleotide variant
(missense variant)
Fanconi anemia
+1 more
GUncertain significance
FANCL
(M305L +3 more)
Single nucleotide variant
(missense variant)
Fanconi anemia
+1 more
GUncertain significance
FANCL
(A143V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
FANCL
(T131I)
Single nucleotide variant
(missense variant)
Fanconi anemia
+2 more
GUncertain significance
FANCL
(P249fs +3 more)
Deletion
(frameshift variant)
Fanconi anemia complementation group L
GPathogenic
FANCL
(L214P +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FANCL
Duplication
(intron variant)
Fanconi anemia complementation group L
+1 more
GBenign
FANCL
(P17R)
Single nucleotide variant
(missense variant)
Fanconi anemia
+2 more
GUncertain significance
FANCL
Single nucleotide variant
(intron variant)
Fanconi anemia
+1 more
GLikely benign
FANCL
Single nucleotide variant
(splice acceptor variant)
Fanconi anemia
+2 more
GLikely pathogenic
FANCL
(S7I)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group L
+1 more
GUncertain significance
FANCL
(L9F)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group L
+1 more
GUncertain significance
FANCL
(V167A)
Single nucleotide variant
(missense variant)
Fanconi anemia
+1 more
GUncertain significance
FANCL
(L8M)
Single nucleotide variant
(missense variant)
Fanconi anemia
+1 more
GUncertain significance
FANCL
(L286S +3 more)
Single nucleotide variant
(missense variant)
Fanconi anemia
+1 more
GUncertain significance
FANCL
(Q346P +3 more)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group L
GUncertain significance
FANCL
Single nucleotide variant
(5 prime UTR variant)
not specified
+1 more
GUncertain significance
FANCL
(S351fs +3 more)
Microsatellite
(frameshift variant)
not specified
+1 more
GUncertain significance
FANCL
(R68Q)
Single nucleotide variant
(missense variant)
Fanconi anemia
+1 more
GUncertain significance
FANCL
(R227G +3 more)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group L
+1 more
GUncertain significance
FANCL
(P163R)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group L
+1 more
GUncertain significance
FANCL
Single nucleotide variant
(intron variant)
Fanconi anemia complementation group L
+1 more
GConflicting classifications of pathogenicity
FANCL
(L14fs)
Deletion
(frameshift variant)
Fanconi anemia complementation group L
+1 more
GPathogenic/Likely pathogenic
FANCL
(V287G +3 more)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group L
+2 more
GUncertain significance
FANCL
(S134I)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group L
+1 more
GUncertain significance
FANCL
(S7N)
Single nucleotide variant
(missense variant)
Fanconi anemia
+1 more
GUncertain significance
FANCL
Single nucleotide variant
(synonymous variant)
Fanconi anemia complementation group L
+1 more
GPathogenic
FANCL
Single nucleotide variant
(intron variant)
Fanconi anemia complementation group L
+1 more
GConflicting classifications of pathogenicity
FANCL
(R146G)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group L
GUncertain significance
FANCL
(Y165D)
Single nucleotide variant
(missense variant)
Fanconi anemia
+1 more
GUncertain significance
FANCL
(A175V)
Single nucleotide variant
(missense variant)
Fanconi anemia
+1 more
GUncertain significance
FANCL
(T178K)
Single nucleotide variant
(missense variant)
Fanconi anemia
+1 more
GUncertain significance
FANCL
(R241H +3 more)
Single nucleotide variant
(missense variant)
Fanconi anemia
+1 more
GUncertain significance
FANCL
Single nucleotide variant
(synonymous variant)
Fanconi anemia complementation group L
GUncertain significance
FANCL
(D291Y +3 more)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group L
GUncertain significance
FANCL
Single nucleotide variant
(5 prime UTR variant +1 more)
Fanconi anemia complementation group L
GUncertain significance
FANCL
Single nucleotide variant
(5 prime UTR variant +1 more)
Fanconi anemia complementation group L
GUncertain significance
FANCL
Single nucleotide variant
(5 prime UTR variant +1 more)
Fanconi anemia complementation group L
GUncertain significance
FANCL, VRK2
(A386T +2 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Fanconi anemia complementation group L
GUncertain significance
FANCL, VRK2
(F384L +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign/Likely benign
VRK2, FANCL
(R373C +2 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Fanconi anemia complementation group L
GUncertain significance
VRK2, FANCL
Single nucleotide variant
(3 prime UTR variant +1 more)
Fanconi anemia complementation group L
GUncertain significance
FANCL, VRK2
(D417H +2 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Fanconi anemia complementation group L
GUncertain significance
FANCL
(A2V)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group L
+1 more
GUncertain significance
VRK2, FANCL
Single nucleotide variant
(3 prime UTR variant +1 more)
Fanconi anemia complementation group L
GUncertain significance
FANCL, VRK2
Single nucleotide variant
(3 prime UTR variant +1 more)
Fanconi anemia complementation group L
GUncertain significance
FANCL
(E232Q +3 more)
Single nucleotide variant
(missense variant)
Fanconi anemia
+1 more
GUncertain significance
FANCL
(R221Q +3 more)
Single nucleotide variant
(missense variant)
Fanconi anemia
+1 more
GUncertain significance
FANCL
(I209V +3 more)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group L
+1 more
GUncertain significance
FANCL
Single nucleotide variant
(synonymous variant)
Fanconi anemia complementation group L
+1 more
GConflicting classifications of pathogenicity
FANCL
(E26Q)
Single nucleotide variant
(missense variant)
Fanconi anemia
+1 more
GUncertain significance
FANCL
(M247fs +3 more)
Duplication
(frameshift variant)
Fanconi anemia complementation group L
GLikely pathogenic
FANCL
(Q355fs +3 more)
Deletion
(frameshift variant)
Fanconi anemia complementation group L
GLikely pathogenic
FANCL
(Q99fs)
Deletion
(frameshift variant)
Fanconi anemia
+3 more
GConflicting classifications of pathogenicity
FANCL
Single nucleotide variant
(synonymous variant)
Fanconi anemia
+1 more
GLikely benign
FANCL
(S82R)
Single nucleotide variant
(missense variant)
Fanconi anemia
+1 more
GUncertain significance
FANCL
Indel
(missense variant)
Fanconi anemia
+1 more
GUncertain significance
FANCL
(I184del +3 more)
Microsatellite
(inframe_indel +1 more)
Fanconi anemia complementation group L
GUncertain significance
FANCL
(A294V +3 more)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group L
+1 more
GUncertain significance
FANCL
(G231D +3 more)
Single nucleotide variant
(missense variant)
Fanconi anemia
+2 more
GUncertain significance
FANCL
(M1T)
Single nucleotide variant
(missense variant +1 more)
Fanconi anemia complementation group L
+3 more
GConflicting classifications of pathogenicity
FANCL
Single nucleotide variant
(splice donor variant)
Fanconi anemia complementation group L
+1 more
GLikely pathogenic
Format
Items per page
Sort by
Choose Destination