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Links from MedGen

Items: 25

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MED12
(Q2059*)
Single nucleotide variant
(nonsense)
Cholestasis-pigmentary retinopathy-cleft palate syndrome
GLikely pathogenic
MED12
(T615fs)
Duplication
(frameshift variant)
Cholestasis-pigmentary retinopathy-cleft palate syndrome
GPathogenic
MED12
(G1876fs)
Deletion
(frameshift variant)
Cholestasis-pigmentary retinopathy-cleft palate syndrome
GPathogenic/Likely pathogenic
MED12
(Q1495fs)
Deletion
(frameshift variant)
Cholestasis-pigmentary retinopathy-cleft palate syndrome
+1 more
GPathogenic
MED12
(G1810V)
Single nucleotide variant
(missense variant)
Cholestasis-pigmentary retinopathy-cleft palate syndrome
GUncertain significance
MED12
(R1341Q)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+6 more
GUncertain significance
LOC126863275, MED12
(M580fs)
Deletion
(frameshift variant)
Cholestasis-pigmentary retinopathy-cleft palate syndrome
GLikely pathogenic
MED12
(Q2115*)
Single nucleotide variant
(nonsense)
Cholestasis-pigmentary retinopathy-cleft palate syndrome
GPathogenic
MED12
Single nucleotide variant
(intron variant)
Cholestasis-pigmentary retinopathy-cleft palate syndrome
+4 more
GBenign/Likely benign
MED12
(M2026V)
Single nucleotide variant
(missense variant)
Cholestasis-pigmentary retinopathy-cleft palate syndrome
+4 more
GUncertain significance
MED12
(A147T)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
MED12
(Q742*)
Single nucleotide variant
(nonsense)
Cholestasis-pigmentary retinopathy-cleft palate syndrome
GPathogenic
MED12
(Q2057*)
Single nucleotide variant
(nonsense)
Cholestasis-pigmentary retinopathy-cleft palate syndrome
GPathogenic
MED12
(Y1874*)
Single nucleotide variant
(nonsense)
Cholestasis-pigmentary retinopathy-cleft palate syndrome
GPathogenic
MED12
(W1704*)
Single nucleotide variant
(nonsense)
Cholestasis-pigmentary retinopathy-cleft palate syndrome
GPathogenic
MED12
(V1635fs)
Indel
(frameshift variant)
Cholestasis-pigmentary retinopathy-cleft palate syndrome
GPathogenic
MED12
(R1138W)
Single nucleotide variant
(missense variant)
Blepharophimosis - intellectual disability syndrome, MKB type
+2 more
GConflicting classifications of pathogenicity
MED12
(I1387V)
Single nucleotide variant
(missense variant)
FG syndrome 1
+6 more
GUncertain significance
MED12
(V62I)
Single nucleotide variant
(missense variant)
Cholestasis-pigmentary retinopathy-cleft palate syndrome
+2 more
GUncertain significance
MED12
(Q2076del)
Microsatellite
(inframe_deletion)
FG syndrome
+5 more
GLikely benign
MED12
Single nucleotide variant
(synonymous variant)
FG syndrome
+6 more
GBenign/Likely benign
MED12
Single nucleotide variant
(synonymous variant)
FG syndrome
+6 more
GBenign/Likely benign
MED12
Single nucleotide variant
(synonymous variant)
FG syndrome
+7 more
GBenign/Likely benign
MED12
(P1371S)
Single nucleotide variant
(missense variant)
not provided
+7 more
GLikely benign
MED12
Single nucleotide variant
(intron variant)
FG syndrome 1
+5 more
GConflicting classifications of pathogenicity
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