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Links from MedGen

Items: 1 to 100 of 1548

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FANCA
Copy number loss
Fanconi anemia complementation group A
GLikely pathogenic
FANCA
Deletion
(splice acceptor variant)
Fanconi anemia complementation group A
GPathogenic
FANCA
Single nucleotide variant
(splice donor variant)
Fanconi anemia complementation group A
GPathogenic
FANCA, LOC130059837
(R894*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group A
GLikely pathogenic
FANCA
Deletion
(splice donor variant)
Fanconi anemia complementation group A
GLikely pathogenic
FANCA
(N729K)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group A
GUncertain significance
FANCA, LOC132090450
(A1132fs)
Indel
(frameshift variant)
Fanconi anemia complementation group A
GLikely pathogenic
FANCA
(W346*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group A
GLikely pathogenic
FANCA, LOC130059837
(S884fs)
Deletion
(frameshift variant)
Fanconi anemia complementation group A
GLikely pathogenic
FANCA, LOC130059837
(L883fs)
Microsatellite
(frameshift variant)
Fanconi anemia complementation group A
GLikely pathogenic
FANCA
(D1033fs)
Deletion
(frameshift variant)
Fanconi anemia complementation group A
GLikely pathogenic
FANCA, LOC130059837
(Q869*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group A
GLikely pathogenic
FANCA
(W177* +1 more)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group A
+1 more
GPathogenic
FANCA
(A149fs +1 more)
Duplication
(frameshift variant)
Fanconi anemia complementation group A
GLikely pathogenic
FANCA
(S103fs)
Deletion
(frameshift variant)
Fanconi anemia
+1 more
GPathogenic/Likely pathogenic
FANCA
Single nucleotide variant
(splice acceptor variant)
Fanconi anemia complementation group A
GLikely pathogenic
FANCA
(K76*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group A
GLikely pathogenic
FANCA
Single nucleotide variant
(splice acceptor variant)
Fanconi anemia complementation group A
GLikely pathogenic
FANCA
(G28fs)
Deletion
(frameshift variant)
Fanconi anemia complementation group A
GLikely pathogenic
FANCA, ZNF276
(P1411fs +1 more)
Deletion
(frameshift variant +2 more)
Fanconi anemia complementation group A
GLikely pathogenic
FANCA, LOC112486223
(V6fs)
Duplication
(frameshift variant)
Fanconi anemia complementation group A
GLikely pathogenic
FANCA
(H544fs)
Deletion
(frameshift variant)
Fanconi anemia complementation group A
GLikely pathogenic
FANCA
Indel
(nonsense)
Fanconi anemia complementation group A
GLikely pathogenic
FANCA
Single nucleotide variant
(splice donor variant)
Fanconi anemia complementation group A
GLikely pathogenic
FANCA
(V411fs)
Deletion
(frameshift variant)
Fanconi anemia complementation group A
GLikely pathogenic
FANCA
Single nucleotide variant
(splice acceptor variant)
Fanconi anemia complementation group A
GLikely pathogenic
FANCA, ZNF276
(A1419fs +1 more)
Indel
(frameshift variant +2 more)
Fanconi anemia complementation group A
GLikely pathogenic
FANCA
(Q387*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group A
GPathogenic
FANCA
(A430fs)
Deletion
(frameshift variant)
Fanconi anemia
+1 more
GPathogenic/Likely pathogenic
FANCA
(F749fs)
Deletion
(frameshift variant)
Fanconi anemia complementation group A
GLikely pathogenic
FANCA
(E1015fs)
Indel
(frameshift variant)
Fanconi anemia complementation group A
GLikely pathogenic
FANCA
(E150fs)
Microsatellite
(frameshift variant +1 more)
Fanconi anemia complementation group A
GLikely pathogenic
FANCA, ZNF276
(K1387*)
Single nucleotide variant
(nonsense +2 more)
Fanconi anemia complementation group A
GLikely pathogenic
FANCA
(Q1070fs)
Deletion
(frameshift variant)
Fanconi anemia complementation group A
GLikely pathogenic
FANCA
(Y35*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group A
GLikely pathogenic
FANCA, ZNF276
(L1367fs)
Deletion
(frameshift variant +3 more)
Fanconi anemia complementation group A
GLikely pathogenic
FANCA, LOC112486223
(S11fs)
Deletion
(frameshift variant)
Fanconi anemia complementation group A
GLikely pathogenic
FANCA
Single nucleotide variant
(splice donor variant +1 more)
Fanconi anemia complementation group A
GLikely pathogenic
FANCA
Single nucleotide variant
(splice acceptor variant)
Fanconi anemia complementation group A
GLikely pathogenic
FANCA
(S995*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group A
GLikely pathogenic
FANCA
(R52fs)
Deletion
(frameshift variant)
Fanconi anemia complementation group A
GLikely pathogenic
FANCA
Deletion
(splice acceptor variant)
Fanconi anemia complementation group A
GLikely pathogenic
FANCA
(W1173*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group A
GPathogenic
FANCA, ZNF276
(L1313fs)
Deletion
(frameshift variant +2 more)
Fanconi anemia complementation group A
GLikely pathogenic
FANCA
Deletion
(splice acceptor variant)
Fanconi anemia complementation group A
GLikely pathogenic
FANCA
Single nucleotide variant
(splice donor variant)
Fanconi anemia complementation group A
GLikely pathogenic
FANCA
(L61fs)
Indel
(frameshift variant)
Fanconi anemia complementation group A
GPathogenic
FANCA, ZNF276
(L1319fs)
Duplication
(frameshift variant +2 more)
Fanconi anemia complementation group A
GLikely pathogenic
FANCA
(E1255fs)
Indel
(frameshift variant)
Fanconi anemia complementation group A
GLikely pathogenic
FANCA
Single nucleotide variant
(splice donor variant)
Fanconi anemia
+1 more
GPathogenic
FANCA, ZNF276
(F1261fs)
Deletion
(frameshift variant +2 more)
Fanconi anemia complementation group A
GPathogenic
FANCA, LOC112486223
(W5*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group A
GPathogenic
FANCA
Single nucleotide variant
(splice donor variant)
Fanconi anemia complementation group A
GLikely pathogenic
FANCA
Deletion
(splice donor variant)
Fanconi anemia complementation group A
GLikely pathogenic
FANCA
(I865fs)
Deletion
(frameshift variant)
Fanconi anemia complementation group A
GLikely pathogenic
FANCA
(E605*)
Microsatellite
(nonsense)
Fanconi anemia complementation group A
GLikely pathogenic
FANCA
(H1188fs)
Duplication
(frameshift variant)
Fanconi anemia complementation group A
GLikely pathogenic
FANCA
(D425fs)
Duplication
(frameshift variant)
Fanconi anemia complementation group A
GLikely pathogenic
FANCA
(S443fs)
Deletion
(frameshift variant)
Fanconi anemia complementation group A
GLikely pathogenic
FANCA
(R32fs)
Deletion
(frameshift variant)
Fanconi anemia complementation group A
GLikely pathogenic
FANCA, ZNF276
(S1301fs)
Microsatellite
(frameshift variant +2 more)
Fanconi anemia complementation group A
GLikely pathogenic
FANCA, LOC132090450
Deletion
(splice acceptor variant)
Fanconi anemia complementation group A
GLikely pathogenic
FANCA
(Q1107*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group A
GLikely pathogenic
FANCA
Single nucleotide variant
(splice acceptor variant)
Fanconi anemia complementation group A
GLikely pathogenic
FANCA, ZNF276
(K1283*)
Single nucleotide variant
(nonsense +2 more)
Fanconi anemia complementation group A
GLikely pathogenic
FANCA
(E420K)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group A
GLikely pathogenic
FANCA, ZNF276
Duplication
(inframe insertion +2 more)
Fanconi anemia complementation group A
GUncertain significance
FANCA
Deletion
(splice acceptor variant +1 more)
Fanconi anemia complementation group A
GPathogenic
FANCA, ZNF276
Single nucleotide variant
(non-coding transcript variant +2 more)
Fanconi anemia
+1 more
GUncertain significance
FANCA, ZNF276
(A1390T)
Single nucleotide variant
(missense variant +3 more)
Fanconi anemia complementation group A
GLikely pathogenic
DMD, FANCA
Deletion
Fanconi anemia complementation group A
GPathogenic
FANCA
(Y998*)
Duplication
(nonsense)
Fanconi anemia complementation group A
GLikely pathogenic
FANCA
(L910P)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group A
GUncertain significance
FANCA
Single nucleotide variant
(splice acceptor variant)
Fanconi anemia complementation group A
GLikely pathogenic
FANCA
(L762I)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group A
GUncertain significance
FANCA, ZNF276
Single nucleotide variant
(3 prime UTR variant +3 more)
Fanconi anemia complementation group A
GUncertain significance
FANCA
(G972fs)
Deletion
(frameshift variant)
Fanconi anemia complementation group A
GLikely pathogenic
FANCA
(R1084P)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group A
GUncertain significance
FANCA, LOC130059837
+1 more
Copy number loss
Fanconi anemia complementation group A
GPathogenic
FANCA
Copy number loss
Fanconi anemia complementation group A
GPathogenic
FANCA, LOC130059837
+1 more
Copy number loss
Fanconi anemia complementation group A
GPathogenic
FANCA
(F456S)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group A
GLikely pathogenic
FANCA
(L354Q)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group A
GUncertain significance
FANCA
(M717fs)
Duplication
(frameshift variant)
Fanconi anemia complementation group A
GPathogenic
FANCA
(F1052L)
Single nucleotide variant
(missense variant)
Fanconi anemia
+1 more
GUncertain significance
FANCA, LOC130059837
(L891F)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group A
GUncertain significance
FANCA
(T654S)
Single nucleotide variant
(missense variant)
Fanconi anemia complementation group A
GUncertain significance
FANCA, LOC132090445
+1 more
Deletion
(3 prime UTR variant +2 more)
Fanconi anemia complementation group A
GLikely pathogenic
FANCA, LOC112486223
(R18fs)
Duplication
(frameshift variant)
Fanconi anemia complementation group A
GPathogenic
FANCA
(L498fs)
Deletion
(frameshift variant)
Fanconi anemia
+1 more
GPathogenic
FANCA
(S696I)
Single nucleotide variant
(missense variant)
Fanconi anemia
+1 more
GUncertain significance
FANCA
Single nucleotide variant
(splice acceptor variant)
Fanconi anemia complementation group A
+1 more
GLikely pathogenic
FANCA
(V523F)
Single nucleotide variant
(missense variant)
Fanconi anemia
+1 more
GUncertain significance
FANCA
Duplication
(splice donor variant)
Fanconi anemia complementation group A
+1 more
GPathogenic/Likely pathogenic
FANCA
Single nucleotide variant
(splice acceptor variant)
Fanconi anemia
+1 more
GLikely pathogenic
FANCA
Single nucleotide variant
(splice donor variant)
Fanconi anemia complementation group A
+1 more
GPathogenic
FANCA, ZNF276
(E1310fs)
Microsatellite
(frameshift variant +2 more)
Fanconi anemia complementation group A
+1 more
GPathogenic/Likely pathogenic
FANCA
(E169Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
FANCA
(E63*)
Single nucleotide variant
(nonsense)
Fanconi anemia
+1 more
GPathogenic/Likely pathogenic
FANCA
(E408*)
Single nucleotide variant
(nonsense)
Fanconi anemia complementation group A
GLikely pathogenic
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