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Links from MedGen

Items: 1 to 100 of 1490

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130061310, RAD51C
Single nucleotide variant
(intron variant)
Fanconi anemia complementation group O
GLikely benign
RAD51C
(G31A)
Single nucleotide variant
(missense variant +1 more)
Fanconi anemia complementation group O
GUncertain significance
RAD51C
Single nucleotide variant
(intron variant)
Fanconi anemia complementation group O
GLikely benign
RAD51C
Single nucleotide variant
(intron variant)
Fanconi anemia complementation group O
GLikely benign
RAD51C
(G243A)
Single nucleotide variant
(missense variant +1 more)
Fanconi anemia complementation group O
GUncertain significance
RAD51C
(V41A)
Single nucleotide variant
(missense variant +1 more)
Fanconi anemia complementation group O
GUncertain significance
LOC130061310, RAD51C
Single nucleotide variant
(intron variant)
Fanconi anemia complementation group O
GLikely benign
RAD51C
(L272F)
Single nucleotide variant
(missense variant +1 more)
Fanconi anemia complementation group O
GUncertain significance
RAD51C
Single nucleotide variant
(non-coding transcript variant +1 more)
Fanconi anemia complementation group O
GLikely benign
RAD51C
(P127A)
Single nucleotide variant
(missense variant +1 more)
Fanconi anemia complementation group O
GUncertain significance
RAD51C
Single nucleotide variant
(intron variant)
Fanconi anemia complementation group O
GLikely benign
RAD51C
(S331T)
Single nucleotide variant
(missense variant +1 more)
Fanconi anemia complementation group O
GUncertain significance
LOC129390903, RAD51C
(C213R)
Single nucleotide variant
(missense variant +1 more)
Fanconi anemia complementation group O
GUncertain significance
RAD51C
Single nucleotide variant
(intron variant)
Fanconi anemia complementation group O
GLikely benign
LOC129390903, RAD51C
(H233P)
Single nucleotide variant
(missense variant +1 more)
Fanconi anemia complementation group O
GUncertain significance
RAD51C
(I100V)
Single nucleotide variant
(missense variant +1 more)
Fanconi anemia complementation group O
GUncertain significance
RAD51C
Single nucleotide variant
(3 prime UTR variant +2 more)
Fanconi anemia complementation group O
GLikely benign
RAD51C
(S47R)
Single nucleotide variant
(missense variant +1 more)
Fanconi anemia complementation group O
GUncertain significance
RAD51C
Single nucleotide variant
(3 prime UTR variant +2 more)
Fanconi anemia complementation group O
GLikely benign
LOC129390903, RAD51C
Single nucleotide variant
(intron variant)
Fanconi anemia complementation group O
GLikely benign
RAD51C
Single nucleotide variant
(synonymous variant +1 more)
Fanconi anemia complementation group O
GLikely benign
RAD51C
Single nucleotide variant
(3 prime UTR variant +2 more)
Fanconi anemia complementation group O
GUncertain significance
RAD51C
Single nucleotide variant
(intron variant)
Fanconi anemia complementation group O
GLikely benign
RAD51C
Single nucleotide variant
(intron variant)
Fanconi anemia complementation group O
GLikely benign
RAD51C
Single nucleotide variant
(synonymous variant +1 more)
Fanconi anemia complementation group O
GLikely benign
RAD51C
(H95R)
Single nucleotide variant
(missense variant +1 more)
Fanconi anemia complementation group O
GUncertain significance
RAD51C
(T132K)
Single nucleotide variant
(missense variant +1 more)
Fanconi anemia complementation group O
GUncertain significance
LOC129390903, RAD51C
Single nucleotide variant
(intron variant)
Fanconi anemia complementation group O
GLikely benign
LOC129390903, RAD51C
(F229I)
Single nucleotide variant
(missense variant +1 more)
Fanconi anemia complementation group O
GUncertain significance
RAD51C
Single nucleotide variant
(synonymous variant +1 more)
Fanconi anemia complementation group O
GLikely benign
RAD51C
Single nucleotide variant
(intron variant)
Fanconi anemia complementation group O
GLikely benign
RAD51C
(K48del)
Deletion
(inframe_deletion +2 more)
Fanconi anemia complementation group O
GUncertain significance
RAD51C
Single nucleotide variant
(intron variant)
Fanconi anemia complementation group O
GUncertain significance
RAD51C
Single nucleotide variant
(synonymous variant)
Fanconi anemia complementation group O
GLikely benign
RAD51C
(G361fs)
Deletion
(frameshift variant +1 more)
Fanconi anemia complementation group O
GLikely pathogenic
RAD51C
(M118fs)
Deletion
(frameshift variant +1 more)
Fanconi anemia complementation group O
GPathogenic
RAD51C
(Q97H)
Single nucleotide variant
(missense variant +1 more)
Fanconi anemia complementation group O
GUncertain significance
RAD51C
Single nucleotide variant
(intron variant)
Fanconi anemia complementation group O
GPathogenic
RAD51C
(D13fs)
Insertion
(frameshift variant +1 more)
Fanconi anemia complementation group O
GPathogenic
LOC129390903, RAD51C
(L201F)
Single nucleotide variant
(missense variant +1 more)
Fanconi anemia complementation group O
GUncertain significance
RAD51C
(K48E)
Single nucleotide variant
(missense variant +1 more)
Fanconi anemia complementation group O
GUncertain significance
RAD51C
(P43A)
Single nucleotide variant
(missense variant +1 more)
Fanconi anemia complementation group O
GUncertain significance
RAD51C
Duplication
(intron variant)
Fanconi anemia complementation group O
GLikely benign
RAD51C
(F8I)
Single nucleotide variant
(missense variant +1 more)
Fanconi anemia complementation group O
GUncertain significance
RAD51C
(S79A)
Single nucleotide variant
(missense variant +1 more)
Fanconi anemia complementation group O
GUncertain significance
RAD51C
Single nucleotide variant
(synonymous variant +1 more)
Fanconi anemia complementation group O
GLikely benign
RAD51C
(Q133P)
Single nucleotide variant
(non-coding transcript variant +1 more)
Fanconi anemia complementation group O
GUncertain significance
RAD51C
(Y75F)
Single nucleotide variant
(missense variant +1 more)
Fanconi anemia complementation group O
GUncertain significance
RAD51C
(H192Q)
Single nucleotide variant
(missense variant +1 more)
Fanconi anemia complementation group O
GUncertain significance
RAD51C
Single nucleotide variant
(intron variant)
Fanconi anemia complementation group O
GUncertain significance
RAD51C
Single nucleotide variant
(intron variant)
Fanconi anemia complementation group O
GLikely benign
RAD51C
Single nucleotide variant
(synonymous variant +1 more)
Fanconi anemia complementation group O
GLikely benign
RAD51C
Single nucleotide variant
(intron variant)
Fanconi anemia complementation group O
GLikely benign
RAD51C
Single nucleotide variant
(synonymous variant +1 more)
Fanconi anemia complementation group O
GUncertain significance
RAD51C
(M136V)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group O
GUncertain significance
RAD51C
Single nucleotide variant
(synonymous variant)
Fanconi anemia complementation group O
GLikely benign
RAD51C
Single nucleotide variant
(intron variant)
Fanconi anemia complementation group O
GUncertain significance
RAD51C
Single nucleotide variant
(intron variant)
Fanconi anemia complementation group O
GLikely benign
RAD51C
Single nucleotide variant
(intron variant)
Fanconi anemia complementation group O
GUncertain significance
LOC129390903, RAD51C
Single nucleotide variant
(synonymous variant +1 more)
Fanconi anemia complementation group O
GLikely benign
RAD51C
(D167Y)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group O
GLikely benign
LOC129390903, RAD51C
Single nucleotide variant
(intron variant)
Fanconi anemia complementation group O
GUncertain significance
RAD51C
Deletion
(intron variant)
Fanconi anemia complementation group O
GLikely benign
RAD51C
(V23A)
Single nucleotide variant
(missense variant +1 more)
Fanconi anemia complementation group O
GUncertain significance
RAD51C
(Q11H)
Single nucleotide variant
(missense variant +1 more)
Fanconi anemia complementation group O
GUncertain significance
RAD51C
(S364N)
Single nucleotide variant
(missense variant +1 more)
Fanconi anemia complementation group O
GUncertain significance
RAD51C
(L296V)
Single nucleotide variant
(missense variant +1 more)
Fanconi anemia complementation group O
GUncertain significance
RAD51C
Single nucleotide variant
(synonymous variant +1 more)
Fanconi anemia complementation group O
GLikely benign
RAD51C
(E334*)
Single nucleotide variant
(nonsense +1 more)
Fanconi anemia complementation group O
GLikely pathogenic
RAD51C
(G130R)
Single nucleotide variant
(missense variant +1 more)
Fanconi anemia complementation group O
GUncertain significance
RAD51C
Deletion
(inframe_deletion +2 more)
Fanconi anemia complementation group O
GUncertain significance
RAD51C
(K188E)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group O
GUncertain significance
RAD51C
Single nucleotide variant
(synonymous variant +1 more)
Fanconi anemia complementation group O
GLikely benign
RAD51C
Single nucleotide variant
(intron variant)
Fanconi anemia complementation group O
GLikely benign
LOC129390903, RAD51C
Single nucleotide variant
(synonymous variant +1 more)
Fanconi anemia complementation group O
GLikely benign
RAD51C
(S29fs)
Duplication
(frameshift variant +1 more)
Fanconi anemia complementation group O
GPathogenic
RAD51C
Single nucleotide variant
(synonymous variant +1 more)
Fanconi anemia complementation group O
GLikely benign
RAD51C
(L172R)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group O
GUncertain significance
LOC129390903, RAD51C
Single nucleotide variant
(synonymous variant +1 more)
Fanconi anemia complementation group O
+1 more
GLikely benign
RAD51C
Single nucleotide variant
(synonymous variant +1 more)
Fanconi anemia complementation group O
+1 more
GLikely benign
RAD51C
Single nucleotide variant
(synonymous variant +1 more)
Fanconi anemia complementation group O
+1 more
GLikely benign
RAD51C
(R277S)
Single nucleotide variant
(missense variant +1 more)
Fanconi anemia complementation group O
GUncertain significance
RAD51C
(P372T)
Single nucleotide variant
(missense variant +1 more)
Fanconi anemia complementation group O
GUncertain significance
RAD51C
Single nucleotide variant
(3 prime UTR variant +2 more)
Fanconi anemia complementation group O
GLikely benign
RAD51C
Single nucleotide variant
(synonymous variant +1 more)
Fanconi anemia complementation group O
GUncertain significance
RAD51C
(T70S)
Single nucleotide variant
(missense variant +1 more)
Fanconi anemia complementation group O
GUncertain significance
RAD51C
Single nucleotide variant
(synonymous variant +1 more)
Fanconi anemia complementation group O
GLikely benign
RAD51C
(T86K)
Single nucleotide variant
(missense variant +1 more)
Fanconi anemia complementation group O
GUncertain significance
RAD51C
(H316fs)
Deletion
(frameshift variant +1 more)
Fanconi anemia complementation group O
GLikely pathogenic
RAD51C
(L46P)
Single nucleotide variant
(missense variant +1 more)
Fanconi anemia complementation group O
GUncertain significance
LOC130061310, RAD51C
Duplication
(intron variant)
Fanconi anemia complementation group O
GUncertain significance
RAD51C
(S44F)
Single nucleotide variant
(missense variant +1 more)
Fanconi anemia complementation group O
GUncertain significance
RAD51C
(H187D)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group O
GUncertain significance
RAD51C
Single nucleotide variant
(synonymous variant +1 more)
Fanconi anemia complementation group O
GLikely benign
RAD51C
(C85F)
Single nucleotide variant
(missense variant +1 more)
Fanconi anemia complementation group O
GUncertain significance
RAD51C
(T86A)
Single nucleotide variant
(missense variant +1 more)
Fanconi anemia complementation group O
GUncertain significance
LOC130061310, RAD51C
Single nucleotide variant
(intron variant)
Fanconi anemia complementation group O
GLikely benign
LOC129390903, RAD51C
(L220P)
Single nucleotide variant
(missense variant +1 more)
Fanconi anemia complementation group O
GUncertain significance
RAD51C
Single nucleotide variant
(synonymous variant +1 more)
Fanconi anemia complementation group O
+1 more
GConflicting classifications of pathogenicity
RAD51C
Single nucleotide variant
(intron variant)
Fanconi anemia complementation group O
GLikely benign
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