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Links from MedGen

Items: 1 to 100 of 264

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FANCG
(Q170*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group G
GLikely pathogenic
FANCG
(R102fs)
Microsatellite
(frameshift variant)
Fanconi anemia complementation group G
GLikely pathogenic
FANCG
(L232fs)
Deletion
(frameshift variant)
Fanconi anemia complementation group G
+1 more
GPathogenic/Likely pathogenic
FANCG
(Y447*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group G
+1 more
GPathogenic/Likely pathogenic
FANCG
(Q198*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group G
GLikely pathogenic
FANCG
(L42*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group G
GLikely pathogenic
FANCG
(G34fs)
Deletion
(frameshift variant)
Fanconi anemia complementation group G
GLikely pathogenic
FANCG
Single nucleotide variant
(splice donor variant)
Fanconi anemia complementation group G
GLikely pathogenic
FANCG
(Q116fs)
Deletion
(frameshift variant)
Fanconi anemia complementation group G
GLikely pathogenic
FANCG
Single nucleotide variant
(splice donor variant)
Fanconi anemia complementation group G
GLikely pathogenic
FANCG
(P241fs)
Deletion
(frameshift variant)
Fanconi anemia complementation group G
GLikely pathogenic
FANCG
(L303fs)
Deletion
(frameshift variant)
Fanconi anemia complementation group G
GLikely pathogenic
FANCG
(D91fs)
Deletion
(frameshift variant)
Fanconi anemia complementation group G
GLikely pathogenic
FANCG
Deletion
(nonsense)
Fanconi anemia complementation group G
GLikely pathogenic
FANCG
(Q247*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group G
GLikely pathogenic
FANCG
Single nucleotide variant
(splice acceptor variant)
Fanconi anemia
+1 more
GPathogenic/Likely pathogenic
FANCG
(W122*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group G
GLikely pathogenic
FANCG
(K491fs)
Indel
(frameshift variant)
Fanconi anemia complementation group G
GPathogenic
FANCG
(Q4fs)
Duplication
(frameshift variant)
Fanconi anemia complementation group G
GLikely pathogenic
FANCG
(L267fs)
Duplication
(frameshift variant)
Fanconi anemia complementation group G
GLikely pathogenic
FANCG
Single nucleotide variant
(splice donor variant)
Fanconi anemia complementation group G
GLikely pathogenic
FANCG
Deletion
(splice acceptor variant)
Fanconi anemia complementation group G
GLikely pathogenic
FANCG
(L334fs)
Deletion
(frameshift variant)
Fanconi anemia complementation group G
GLikely pathogenic
FANCG
(A228fs)
Deletion
(frameshift variant)
Fanconi anemia complementation group G
GLikely pathogenic
FANCG
(N311fs)
Duplication
(frameshift variant)
Fanconi anemia
+1 more
GPathogenic/Likely pathogenic
FANCG
Single nucleotide variant
(splice donor variant)
Fanconi anemia complementation group G
GLikely pathogenic
FANCG
(V246F)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group G
GUncertain significance
FANCG
(P241fs)
Deletion
(frameshift variant)
Fanconi anemia complementation group G
GLikely pathogenic
FANCG
(E304Q)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group G
GUncertain significance
FANCG
(L207fs)
Deletion
(frameshift variant)
Fanconi anemia complementation group G
GPathogenic/Likely pathogenic
FANCG
(E304fs)
Duplication
(frameshift variant)
Fanconi anemia
+1 more
GPathogenic/Likely pathogenic
FANCG
(L591fs)
Deletion
(frameshift variant)
Fanconi anemia
+1 more
GConflicting classifications of pathogenicity
FANCG
Single nucleotide variant
(splice acceptor variant)
Fanconi anemia
+1 more
GLikely pathogenic
FANCG
(E492*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group G
+1 more
GPathogenic
FANCG
Single nucleotide variant
(intron variant)
Fanconi anemia
+1 more
GUncertain significance
FANCG
(S598R)
Single nucleotide variant
(missense variant)
Fanconi anemia
+1 more
GUncertain significance
FANCG
(L166P)
Single nucleotide variant
(missense variant)
Fanconi anemia
+1 more
GUncertain significance
FANCG
(C314fs)
Deletion
(frameshift variant)
Fanconi anemia
+2 more
GPathogenic/Likely pathogenic
FANCG
(Q41*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group G
+1 more
GPathogenic/Likely pathogenic
FANCG
(T357M)
Single nucleotide variant
(missense variant)
Fanconi anemia
+1 more
GUncertain significance
FANCG
(A335T)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group G
GUncertain significance
FANCG
(R605C)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group G
GUncertain significance
FANCG
(E105G)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group G
GUncertain significance
FANCG
(R39*)
Single nucleotide variant
(nonsense)
Fanconi anemia
+1 more
GPathogenic/Likely pathogenic
FANCG
Single nucleotide variant
(intron variant)
Fanconi anemia
+1 more
GLikely benign
FANCG
Single nucleotide variant
(synonymous variant)
Fanconi anemia complementation group G
+1 more
GLikely benign
FANCG
Single nucleotide variant
(synonymous variant)
Fanconi anemia complementation group G
+1 more
GLikely benign
FANCG
Microsatellite
(intron variant)
Fanconi anemia
+1 more
GLikely benign
FANCG
(V312I)
Single nucleotide variant
(missense variant)
Fanconi anemia
+1 more
GUncertain significance
FANCG
(L239fs)
Duplication
(frameshift variant)
Fanconi anemia
+1 more
GPathogenic/Likely pathogenic
FANCG
(Q4*)
Single nucleotide variant
(nonsense)
Fanconi anemia
+1 more
GPathogenic/Likely pathogenic
FANCG
Deletion
Fanconi anemia complementation group G
+1 more
GPathogenic/Likely pathogenic
FANCG
(Y551fs)
Microsatellite
(frameshift variant)
Fanconi anemia
+1 more
GPathogenic/Likely pathogenic
FANCG
(S185fs)
Duplication
(frameshift variant)
Fanconi anemia complementation group G
+1 more
GPathogenic/Likely pathogenic
FANCG
Single nucleotide variant
(synonymous variant)
Fanconi anemia complementation group G
+1 more
GUncertain significance
FANCG
(R113fs)
Deletion
(frameshift variant)
Fanconi anemia
+1 more
GPathogenic
FANCG
(V452I)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
FANCG
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
FANCG
(R257C)
Single nucleotide variant
(missense variant)
Fanconi anemia
+1 more
GUncertain significance
FANCG
Single nucleotide variant
(splice acceptor variant)
Fanconi anemia complementation group G
GLikely pathogenic
FANCG
(E304*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group G
GPathogenic
FANCG
(H553Y)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group G
+1 more
GUncertain significance
FANCG
(P281fs)
Deletion
(frameshift variant)
Fanconi anemia complementation group G
GLikely pathogenic
FANCG
(Q343*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group G
GLikely pathogenic
FANCG
Single nucleotide variant
(5 prime UTR variant)
Fanconi anemia complementation group G
GUncertain significance
FANCG
(R359K)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group G
GUncertain significance
FANCG
Single nucleotide variant
(5 prime UTR variant)
Fanconi anemia complementation group G
GLikely benign
FANCG
Single nucleotide variant
(intron variant)
Fanconi anemia complementation group G
+1 more
GBenign
FANCG
Single nucleotide variant
(intron variant)
Fanconi anemia complementation group G
+1 more
GBenign
FANCG
Single nucleotide variant
(synonymous variant)
Fanconi anemia complementation group G
+1 more
GLikely benign
FANCG
Single nucleotide variant
(synonymous variant)
Fanconi anemia
+1 more
GLikely benign
FANCG
Single nucleotide variant
(synonymous variant)
Fanconi anemia
+1 more
GLikely benign
FANCG
Single nucleotide variant
(synonymous variant)
Fanconi anemia complementation group G
+1 more
GLikely benign
FANCG
Single nucleotide variant
(synonymous variant)
Fanconi anemia
+1 more
GConflicting classifications of pathogenicity
FANCG
(D437fs)
Duplication
(frameshift variant)
Fanconi anemia
+1 more
GPathogenic
FANCG
Single nucleotide variant
(splice acceptor variant)
Fanconi anemia
+1 more
GPathogenic
FANCG
(Y551*)
Duplication
(nonsense)
Fanconi anemia
+1 more
GPathogenic
FANCG
(Q263*)
Single nucleotide variant
(nonsense)
Fanconi anemia
+1 more
GPathogenic
FANCG
Single nucleotide variant
(splice acceptor variant)
Fanconi anemia
+1 more
GLikely pathogenic
FANCG
Deletion
(inframe_indel)
Fanconi anemia complementation group G
+1 more
GLikely pathogenic
FANCG
(A507T)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group G
+1 more
GUncertain significance
FANCG
(M431R)
Single nucleotide variant
(missense variant)
Ovarian cancer
+1 more
GConflicting classifications of pathogenicity
FANCG
(R98L)
Single nucleotide variant
(missense variant)
Fanconi anemia
GUncertain significance
FANCG
(R141H)
Single nucleotide variant
(missense variant)
Fanconi anemia
+1 more
GUncertain significance
FANCG
Single nucleotide variant
(synonymous variant)
Fanconi anemia complementation group G
GUncertain significance
FANCG
(D362G)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group G
GUncertain significance
FANCG
(R433W)
Single nucleotide variant
(missense variant)
Fanconi anemia
GUncertain significance
FANCG
(E395fs)
Indel
(frameshift variant)
Fanconi anemia complementation group G
GPathogenic
FANCG
(T568A)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group G
+2 more
GConflicting classifications of pathogenicity
FANCG
(E326*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
FANCG
(G361E)
Single nucleotide variant
(missense variant)
Fanconi anemia
GUncertain significance
FANCG
(P449L)
Single nucleotide variant
(missense variant)
Fanconi anemia
GUncertain significance
FANCG
(W150R)
Single nucleotide variant
(missense variant)
Fanconi anemia
GUncertain significance
FANCG
(G408S)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
FANCG
(P133L)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group G
+1 more
GUncertain significance
FANCG
(H582R)
Single nucleotide variant
(missense variant)
Fanconi anemia
GUncertain significance
FANCG
(L591fs)
Duplication
(frameshift variant)
Fanconi anemia complementation group G
GLikely pathogenic
FANCG
(S588F)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group G
GPathogenic
FANCG
Single nucleotide variant
(splice acceptor variant)
Fanconi anemia complementation group G
GPathogenic
FANCG
Single nucleotide variant
(splice acceptor variant)
Fanconi anemia complementation group G
GPathogenic
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