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Items: 51

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MED12
(R108*)
Single nucleotide variant
(nonsense)
FG syndrome 1
Gnot provided
MED12
(E172Q)
Single nucleotide variant
(missense variant)
MED12-related intellectual disability syndrome
GPathogenic
MED12
(R206Q)
Single nucleotide variant
(missense variant)
FG syndrome
+1 more
GConflicting classifications of pathogenicity
MED12
(R296Q)
Single nucleotide variant
(missense variant)
FG syndrome 1
+4 more
GPathogenic/Likely pathogenic
MED12
Single nucleotide variant
(splice acceptor variant)
FG syndrome 1
Gnot provided
LOC126863275, MED12
(R516H)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
MED12
(R621Q)
Single nucleotide variant
(missense variant)
FG syndrome 1
GLikely pathogenic
MED12
(T736fs)
Deletion
(frameshift variant)
FG syndrome 1
Gnot provided
MED12
(I771T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
MED12
(R815Q)
Single nucleotide variant
(missense variant)
FG syndrome 1
Gnot provided
MED12
(L889fs)
Duplication
(frameshift variant)
FG syndrome 1
Gnot provided
MED12
(I890N)
Single nucleotide variant
(missense variant)
FG syndrome 1
Gnot provided
MED12
(N898D)
Single nucleotide variant
(missense variant)
FG syndrome 1
Gnot provided
MED12
(S912L)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
MED12
(V929D)
Single nucleotide variant
(missense variant)
FG syndrome 1
Gnot provided
MED12
(V954G)
Single nucleotide variant
(missense variant)
FG syndrome 1
Gnot provided
MED12
(G958E)
Single nucleotide variant
(missense variant)
FG syndrome 1
Gnot provided
MED12
(R961W)
Single nucleotide variant
(missense variant)
FG syndrome
+6 more
GPathogenic/Likely pathogenic
MED12
(N1007S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
MED12
(I1023V)
Single nucleotide variant
(missense variant)
FG syndrome
+2 more
GUncertain significance
MED12
(E1091K)
Single nucleotide variant
(missense variant)
FG syndrome 1
Gnot provided
MED12
(R1138W)
Single nucleotide variant
(missense variant)
Blepharophimosis - intellectual disability syndrome, MKB type
+2 more
GConflicting classifications of pathogenicity
MED12
(R1148H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
MED12
(S1165P)
Single nucleotide variant
(missense variant)
Blepharophimosis - intellectual disability syndrome, MKB type
GPathogenic
MED12
(R1214C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
MED12
(V1216M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
MED12
(G1218E)
Single nucleotide variant
(missense variant)
FG syndrome 1
Gnot provided
MED12
(R1295C)
Single nucleotide variant
(missense variant)
FG syndrome 1
+2 more
GConflicting classifications of pathogenicity
MED12
(R1295H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
MED12
(V1311E)
Single nucleotide variant
(missense variant)
FG syndrome 1
Gnot provided
MED12
(L1312S)
Single nucleotide variant
(missense variant)
FG syndrome 1
Gnot provided
MED12
(R1357H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
MED12
(P1371S)
Single nucleotide variant
(missense variant)
X-linked intellectual disability with marfanoid habitus
+7 more
GLikely benign
MED12
(A1383T)
Single nucleotide variant
(missense variant)
Blepharophimosis - intellectual disability syndrome, MKB type
+4 more
GConflicting classifications of pathogenicity
MED12
(R1467Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MED12
(W1557R)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
MED12
(R1611H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MED12
(V1635fs)
Indel
(frameshift variant)
Cholestasis-pigmentary retinopathy-cleft palate syndrome
GPathogenic
MED12
(W1704*)
Single nucleotide variant
(nonsense)
Cholestasis-pigmentary retinopathy-cleft palate syndrome
GPathogenic
MED12
(H1729N)
Single nucleotide variant
(missense variant)
Blepharophimosis - intellectual disability syndrome, MKB type
GPathogenic
MED12
(Y1874*)
Single nucleotide variant
(nonsense)
Cholestasis-pigmentary retinopathy-cleft palate syndrome
GPathogenic
MED12
(S1967fs)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
MED12
(Y1973*)
Single nucleotide variant
(nonsense)
FG syndrome 1
Gnot provided
MED12
(Q1974H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
MED12
(Q2057*)
Single nucleotide variant
(nonsense)
Cholestasis-pigmentary retinopathy-cleft palate syndrome
GPathogenic
MED12
(Y2077*)
Single nucleotide variant
(nonsense)
FG syndrome 1
Gnot provided
MED12
Microsatellite
(inframe_deletion)
FG syndrome 1
Gnot provided
MED12
(Q2090*)
Single nucleotide variant
(nonsense)
FG syndrome 1
Gnot provided
MED12
(Q2094*)
Single nucleotide variant
(nonsense)
FG syndrome 1
Gnot provided
MED12
(Q2150*)
Single nucleotide variant
(nonsense)
FG syndrome 1
Gnot provided
MED12
(Q2159P)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
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