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Links from MedGen

Items: 1 to 100 of 393

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BCOR
(D1583G +2 more)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
GUncertain significance
BCOR
(Q1254L +2 more)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
GUncertain significance
BCOR
Single nucleotide variant
(intron variant)
Oculofaciocardiodental syndrome
GLikely benign
BCOR
(V973M)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
GUncertain significance
BCOR, LOC126863239
(V436I)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
GUncertain significance
BCOR
Single nucleotide variant
(intron variant)
Oculofaciocardiodental syndrome
GBenign
BCOR
Single nucleotide variant
(intron variant)
Oculofaciocardiodental syndrome
GLikely benign
BCOR
Single nucleotide variant
(intron variant)
Oculofaciocardiodental syndrome
GLikely benign
BCOR
(T1219I +2 more)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
GUncertain significance
BCOR
(S1643P +2 more)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
GUncertain significance
BCOR, LOC126863239
(D420E)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
GUncertain significance
BCOR
Single nucleotide variant
(intron variant)
Oculofaciocardiodental syndrome
GLikely benign
BCOR, LOC126863239
(E519D)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
GUncertain significance
BCOR
Single nucleotide variant
(intron variant)
Oculofaciocardiodental syndrome
GLikely benign
BCOR
(S1298F +2 more)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
+1 more
GBenign/Likely benign
BCOR
(P634Q)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
GUncertain significance
BCOR
(P663T)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
GUncertain significance
BCOR
Single nucleotide variant
(synonymous variant)
Oculofaciocardiodental syndrome
GLikely benign
BCOR, LOC126863239
(L345H)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
GUncertain significance
BCOR
Single nucleotide variant
(synonymous variant)
Oculofaciocardiodental syndrome
GLikely benign
BCOR
Single nucleotide variant
(synonymous variant)
Oculofaciocardiodental syndrome
GBenign
BCOR, LOC126863239
(M265V)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
GUncertain significance
BCOR
Single nucleotide variant
(synonymous variant)
Oculofaciocardiodental syndrome
GLikely benign
BCOR
(R1469fs +2 more)
Deletion
(frameshift variant)
Oculofaciocardiodental syndrome
GPathogenic
BCOR
Single nucleotide variant
(synonymous variant)
Oculofaciocardiodental syndrome
GLikely benign
BCOR
Single nucleotide variant
(synonymous variant)
Oculofaciocardiodental syndrome
GUncertain significance
BCOR
Single nucleotide variant
(synonymous variant)
Oculofaciocardiodental syndrome
GLikely benign
BCOR, LOC126863239
Single nucleotide variant
(synonymous variant)
BCOR-related condition
+1 more
GLikely benign
BCOR
(R1165fs +2 more)
Indel
(frameshift variant +2 more)
Oculofaciocardiodental syndrome
GPathogenic
BCOR
Deletion
(inframe_deletion)
Oculofaciocardiodental syndrome
GUncertain significance
BCOR
(S834G)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
GUncertain significance
BCOR, LOC126863239
(A275fs)
Duplication
(frameshift variant)
Oculofaciocardiodental syndrome
GPathogenic
BCOR
Single nucleotide variant
(intron variant)
Oculofaciocardiodental syndrome
GLikely benign
BCOR
(I638V)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
GUncertain significance
BCOR
Single nucleotide variant
(synonymous variant)
Oculofaciocardiodental syndrome
GLikely benign
BCOR
(P1277A +2 more)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
GUncertain significance
BCOR
(V1047fs +1 more)
Duplication
(frameshift variant)
Oculofaciocardiodental syndrome
GPathogenic
BCOR
Single nucleotide variant
(synonymous variant)
Oculofaciocardiodental syndrome
GBenign
BCOR, LOC126863239
Single nucleotide variant
(synonymous variant)
Oculofaciocardiodental syndrome
GLikely benign
BCOR
Single nucleotide variant
(synonymous variant)
Oculofaciocardiodental syndrome
GLikely benign
BCOR
(E1348fs +2 more)
Deletion
(frameshift variant)
Oculofaciocardiodental syndrome
GPathogenic
BCOR
(D1355N +2 more)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
GUncertain significance
BCOR
(D807E)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
GUncertain significance
BCOR
(N784I)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
GUncertain significance
BCOR, LOC126863239
(R188Q)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
GUncertain significance
BCOR
Single nucleotide variant
(synonymous variant)
Oculofaciocardiodental syndrome
GBenign
BCOR, LOC126863239
(R342G)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
GUncertain significance
BCOR
(E836K)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
GUncertain significance
BCOR, LOC126863239
(A330V)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
GUncertain significance
BCOR, LOC126863239
(R411W)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
GUncertain significance
BCOR
(H62Y)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
GUncertain significance
BCOR
(Y1549fs +2 more)
Duplication
(frameshift variant)
Oculofaciocardiodental syndrome
GLikely pathogenic
BCOR
(P1093A +1 more)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
GUncertain significance
BCOR, LOC126863239
(W509*)
Single nucleotide variant
(nonsense)
Oculofaciocardiodental syndrome
GLikely pathogenic
BCOR
(A38T)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
GUncertain significance
BCOR
(Q995*)
Single nucleotide variant
(nonsense)
Oculofaciocardiodental syndrome
GPathogenic
BCOR
(L1162fs +2 more)
Duplication
(frameshift variant)
Oculofaciocardiodental syndrome
GLikely pathogenic
BCOR
(E1014fs +1 more)
Deletion
(frameshift variant)
Oculofaciocardiodental syndrome
GPathogenic
BCOR
(Q1101* +1 more)
Single nucleotide variant
(nonsense)
Oculofaciocardiodental syndrome
GPathogenic
BCOR
(S1245fs +2 more)
Deletion
(frameshift variant)
Oculofaciocardiodental syndrome
GLikely pathogenic
BCOR
(A69V)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
GUncertain significance
BCOR
Indel
(splice acceptor variant)
Oculofaciocardiodental syndrome
GLikely pathogenic
BCOR
(M724I)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
GUncertain significance
BCOR
(R1264S +2 more)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
GUncertain significance
BCOR
(A1210S +2 more)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
+1 more
GUncertain significance
BCOR
Deletion
Oculofaciocardiodental syndrome
GPathogenic
BCOR
Single nucleotide variant
(intron variant)
Oculofaciocardiodental syndrome
GLikely benign
BCOR
(V20A)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
GUncertain significance
BCOR
(P1098S +1 more)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
GUncertain significance
BCOR
(S135C)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
GUncertain significance
BCOR
Single nucleotide variant
(synonymous variant)
Oculofaciocardiodental syndrome
+1 more
GBenign/Likely benign
BCOR
(R1387H +2 more)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
GUncertain significance
BCOR, LOC126863239
(I148V)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
GUncertain significance
BCOR
(S1615L +2 more)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
GUncertain significance
BCOR
(T1391A +2 more)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
GUncertain significance
BCOR
(R1323W +2 more)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
GUncertain significance
BCOR
Single nucleotide variant
(synonymous variant)
Oculofaciocardiodental syndrome
GLikely benign
BCOR
(T1111I +1 more)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
GUncertain significance
BCOR
(W1051* +1 more)
Single nucleotide variant
(nonsense)
Oculofaciocardiodental syndrome
GPathogenic
BCOR, LOC126863239
Single nucleotide variant
(synonymous variant)
Oculofaciocardiodental syndrome
GBenign
BCOR
Single nucleotide variant
(synonymous variant)
Oculofaciocardiodental syndrome
GLikely benign
BCOR
Single nucleotide variant
(synonymous variant)
Oculofaciocardiodental syndrome
GLikely benign
BCOR
Single nucleotide variant
(synonymous variant)
Oculofaciocardiodental syndrome
GLikely benign
BCOR
(N621S)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
GUncertain significance
BCOR
Single nucleotide variant
(synonymous variant)
Oculofaciocardiodental syndrome
GLikely benign
BCOR, LOC126863239
(K412fs)
Deletion
(frameshift variant)
Oculofaciocardiodental syndrome
GPathogenic
BCOR
Single nucleotide variant
(splice acceptor variant)
Oculofaciocardiodental syndrome
GLikely pathogenic
BCOR
Single nucleotide variant
(synonymous variant)
BCOR-related condition
+1 more
GBenign/Likely benign
BCOR, LOC126863239
(Q308*)
Single nucleotide variant
(nonsense)
Oculofaciocardiodental syndrome
GPathogenic
BCOR
Duplication
(intron variant)
Oculofaciocardiodental syndrome
GBenign
BCOR
Single nucleotide variant
(synonymous variant)
Oculofaciocardiodental syndrome
GLikely benign
BCOR
Single nucleotide variant
(synonymous variant)
Oculofaciocardiodental syndrome
GBenign
BCOR
(K799R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
BCOR
(E1285K +2 more)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
GUncertain significance
BCOR
(D1022V +1 more)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
GUncertain significance
BCOR
(P1596L +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
BCOR
(R1136H +1 more)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
GUncertain significance
BCOR
(V821M)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
GUncertain significance
BCOR
(Q1587R +2 more)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
GUncertain significance
BCOR, LOC126863239
(P326L)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
GUncertain significance
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