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Links from MedGen

Items: 1 to 100 of 350

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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
LOC126863239, BCOR
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
LOC126863239, BCOR
(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
(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
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)
Oculofaciocardiodental syndrome
GBenign
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
BCOR
Single nucleotide variant
(synonymous variant)
Oculofaciocardiodental syndrome
GLikely benign
BCOR
(E1114K +1 more)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
GUncertain significance
BCOR
Deletion
(intron variant)
Oculofaciocardiodental syndrome
GBenign
BCOR, LOC126863239
(L267V)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
GUncertain significance
BCOR, LOC126863239
(T329R)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
GUncertain significance
BCOR
(S636R)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
GUncertain significance
BCOR, LOC126863239
(Q176*)
Single nucleotide variant
(nonsense)
Oculofaciocardiodental syndrome
GLikely pathogenic
BCOR
Single nucleotide variant
(intron variant)
Oculofaciocardiodental syndrome
GLikely benign
BCOR, LOC126863239
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
Single nucleotide variant
(synonymous variant)
Oculofaciocardiodental syndrome
GLikely benign
BCOR
(K1037fs +1 more)
Indel
(frameshift variant)
Oculofaciocardiodental syndrome
GPathogenic
BCOR, LOC126863239
(Y186*)
Single nucleotide variant
(nonsense)
Oculofaciocardiodental syndrome
GPathogenic
BCOR, LOC126863239
(A165P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
BCOR
(A1663V +2 more)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
GUncertain significance
BCOR
(T128I)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
GUncertain significance
BCOR
(R1000P +1 more)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
GUncertain significance
BCOR
(D908N)
Single nucleotide variant
(missense variant)
Oculofaciocardiodental syndrome
GUncertain significance
BCOR
(K1117fs +1 more)
Deletion
(frameshift variant)
Oculofaciocardiodental syndrome
GLikely pathogenic
BCOR
(T1391fs +2 more)
Deletion
(frameshift variant)
Oculofaciocardiodental syndrome
GPathogenic
BCOR, LOC126863239
(V511fs)
Duplication
(frameshift variant)
Oculofaciocardiodental syndrome
GPathogenic
BCOR
Single nucleotide variant
(intron variant)
Oculofaciocardiodental syndrome
GLikely benign
BCOR, LOC126863239
Single nucleotide variant
(synonymous variant)
Oculofaciocardiodental syndrome
GLikely benign
BCOR
Single nucleotide variant
(intron variant)
Oculofaciocardiodental syndrome
GLikely benign
BCOR
Single nucleotide variant
(intron variant)
Oculofaciocardiodental syndrome
GLikely benign
BCOR
Single nucleotide variant
(synonymous variant)
Oculofaciocardiodental syndrome
GBenign
BCOR
Single nucleotide variant
(intron variant)
Oculofaciocardiodental syndrome
GBenign
BCOR
Single nucleotide variant
(synonymous variant)
Oculofaciocardiodental syndrome
GBenign
BCOR
Single nucleotide variant
(synonymous variant)
Oculofaciocardiodental syndrome
GLikely benign
BCOR, LOC126863239
Single nucleotide variant
(synonymous variant)
Oculofaciocardiodental syndrome
GLikely benign
BCOR
Single nucleotide variant
(intron variant)
Oculofaciocardiodental syndrome
GLikely benign
BCOR
Single nucleotide variant
(synonymous variant)
Oculofaciocardiodental syndrome
GBenign
BCOR
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
BCOR, LOC126863239
Single nucleotide variant
(synonymous variant)
Oculofaciocardiodental syndrome
GLikely benign
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