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Links from MedGen

Items: 1 to 100 of 133

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MED12
(S1483L)
Single nucleotide variant
(missense variant)
FG syndrome 1
GUncertain significance
MED12
(R1357C)
Single nucleotide variant
(missense variant)
FG syndrome 1
GUncertain significance
MED12
(K1610R)
Single nucleotide variant
(missense variant)
FG syndrome 1
+1 more
GUncertain significance
MED12
Single nucleotide variant
(splice donor variant)
FG syndrome 1
GLikely pathogenic
MED12
(P1480L)
Single nucleotide variant
(missense variant)
FG syndrome 1
GLikely pathogenic
MED12
(R296W)
Single nucleotide variant
(missense variant)
FG syndrome 1
GUncertain significance
MED12
(Q2071fs)
Deletion
(frameshift variant)
MED12-related disorder
+1 more
GLikely pathogenic
MED12
Duplication
FG syndrome 1
GUncertain significance
CXorf65, FOXO4
+11 more
Duplication
FG syndrome 1
GUncertain significance
MED12
Deletion
FG syndrome 1
GPathogenic
MED12
(R1341Q)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+6 more
GUncertain significance
MED12
Single nucleotide variant
(intron variant)
FG syndrome 1
+1 more
GUncertain significance
MED12
(M243T)
Single nucleotide variant
(missense variant)
FG syndrome 1
GUncertain significance
MED12
Single nucleotide variant
(synonymous variant)
FG syndrome 1
+2 more
GUncertain significance
MED12
Single nucleotide variant
(intron variant)
Cholestasis-pigmentary retinopathy-cleft palate syndrome
+4 more
GBenign/Likely benign
MED12
Duplication
FG syndrome 1
GUncertain significance
MED12
(Q2062H)
Single nucleotide variant
(missense variant)
FG syndrome 1
+1 more
GUncertain significance
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
(Q2150*)
Single nucleotide variant
(nonsense)
FG syndrome 1
Gnot provided
MED12
(Q2094*)
Single nucleotide variant
(nonsense)
FG syndrome 1
Gnot provided
MED12
(Q2090*)
Single nucleotide variant
(nonsense)
FG syndrome 1
Gnot provided
MED12
Microsatellite
(inframe_deletion)
FG syndrome 1
Gnot provided
MED12
(Y2077*)
Single nucleotide variant
(nonsense)
FG syndrome 1
Gnot provided
MED12
(Q2057*)
Single nucleotide variant
(nonsense)
Cholestasis-pigmentary retinopathy-cleft palate syndrome
GPathogenic
MED12
(Y1973*)
Single nucleotide variant
(nonsense)
FG syndrome 1
Gnot provided
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
(R1467Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MED12
(R1357H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
MED12
(L1312S)
Single nucleotide variant
(missense variant)
FG syndrome 1
Gnot provided
MED12
(V1311E)
Single nucleotide variant
(missense variant)
FG syndrome 1
Gnot provided
MED12
(G1218E)
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
(E1091K)
Single nucleotide variant
(missense variant)
FG syndrome 1
Gnot provided
MED12
(V954G)
Single nucleotide variant
(missense variant)
FG syndrome 1
Gnot provided
MED12
(V929D)
Single nucleotide variant
(missense variant)
FG syndrome 1
Gnot provided
MED12
(S912L)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
MED12
(N898D)
Single nucleotide variant
(missense variant)
FG syndrome 1
Gnot provided
MED12
(I890N)
Single nucleotide variant
(missense variant)
FG syndrome 1
Gnot provided
MED12
(L889fs)
Duplication
(frameshift variant)
FG syndrome 1
Gnot provided
MED12
(I771T)
Single nucleotide variant
(missense variant)
FG syndrome
+2 more
GUncertain significance
MED12
(T736fs)
Deletion
(frameshift variant)
FG syndrome 1
Gnot provided
MED12
Single nucleotide variant
(splice acceptor variant)
FG syndrome 1
Gnot provided
MED12
(E172Q)
Single nucleotide variant
(missense variant)
MED12-related intellectual disability syndrome
GPathogenic
MED12
(R108*)
Single nucleotide variant
(nonsense)
FG syndrome 1
Gnot provided
MED12
(V1216M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
MED12
(S1461L)
Single nucleotide variant
(missense variant)
FG syndrome 1
GUncertain significance
MED12
(R206Q)
Single nucleotide variant
(missense variant)
FG syndrome
+1 more
GConflicting classifications of pathogenicity
MED12
Duplication
FG syndrome 1
GUncertain significance
MED12
Deletion
FG syndrome 1
GUncertain significance
MED12
(R1214C)
Single nucleotide variant
(missense variant)
X-linked intellectual disability with marfanoid habitus
+1 more
GUncertain significance
MED12
(Q1316E)
Single nucleotide variant
(missense variant)
FG syndrome
+3 more
GUncertain significance
MED12
(Y2177L)
Indel
(missense variant)
FG syndrome 1
GUncertain significance
MED12
Microsatellite
(inframe_insertion)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GConflicting classifications of pathogenicity
MED12
(G1920S)
Single nucleotide variant
(missense variant)
FG syndrome 1
+1 more
GUncertain significance
MED12
(M666V)
Single nucleotide variant
(missense variant)
FG syndrome
+5 more
GConflicting classifications of pathogenicity
LOC126863275, MED12
(T459I)
Single nucleotide variant
(missense variant)
FG syndrome
GUncertain significance
GJB1, MED12
+1 more
Duplication
FG syndrome 1
GUncertain significance
MED12
Duplication
FG syndrome 1
GUncertain significance
MED12
Microsatellite
(intron variant)
FG syndrome 1
+1 more
GBenign
MED12
(S75T)
Single nucleotide variant
(missense variant)
FG syndrome 1
GLikely pathogenic
LOC126863275, MED12
Single nucleotide variant
(synonymous variant)
FG syndrome 1
+1 more
GLikely benign
MED12
Single nucleotide variant
(synonymous variant)
FG syndrome 1
GLikely benign
MED12
Single nucleotide variant
(synonymous variant)
FG syndrome 1
GLikely benign
MED12
Single nucleotide variant
(synonymous variant)
FG syndrome 1
GLikely benign
LOC126863275, MED12
Single nucleotide variant
(synonymous variant)
FG syndrome 1
GLikely benign
MED12
Single nucleotide variant
(synonymous variant)
FG syndrome 1
GLikely benign
MED12
(T805P)
Single nucleotide variant
(missense variant)
FG syndrome 1
GBenign
MED12
Single nucleotide variant
(synonymous variant)
FG syndrome 1
GLikely benign
MED12
Single nucleotide variant
(synonymous variant)
FG syndrome 1
GLikely benign
MED12
Single nucleotide variant
(synonymous variant)
FG syndrome 1
GLikely benign
MED12
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GConflicting classifications of pathogenicity
MED12
Single nucleotide variant
(synonymous variant)
FG syndrome 1
GBenign
MED12
Single nucleotide variant
(synonymous variant)
FG syndrome 1
GLikely benign
MED12
Single nucleotide variant
(synonymous variant)
FG syndrome 1
GLikely benign
MED12
(A1169S)
Single nucleotide variant
(missense variant)
FG syndrome 1
+1 more
GLikely pathogenic
MED12
(K1674del)
Microsatellite
(inframe_deletion)
FG syndrome 1
+2 more
GUncertain significance
MED12
(L675F)
Single nucleotide variant
(missense variant)
Wilms tumor 1
+4 more
GUncertain significance
LOC126863275, MED12
(R516C)
Single nucleotide variant
(missense variant)
FG syndrome 1
GLikely pathogenic
MED12
(R1611H)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GConflicting classifications of pathogenicity
MED12
(A210P)
Single nucleotide variant
(missense variant)
X-linked intellectual disability with marfanoid habitus
+3 more
GUncertain significance
MED12
(I1387V)
Single nucleotide variant
(missense variant)
FG syndrome 1
+6 more
GUncertain significance
MED12
Single nucleotide variant
(synonymous variant)
FG syndrome 1
GLikely benign
MED12
(R296Q)
Single nucleotide variant
(missense variant)
FG syndrome 1
+4 more
GPathogenic/Likely pathogenic
MED12
(R1295H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
MED12
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
MED12
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
LOC126863275, MED12
Single nucleotide variant
(synonymous variant)
FG syndrome 1
+2 more
GBenign/Likely benign
LOC126863275, MED12
(R516H)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
MED12
(S849P)
Single nucleotide variant
(missense variant)
FG syndrome 1
+2 more
GUncertain significance
MED12
(Q2159P)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
MED12
(R1627H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MED12
Duplication
FG syndrome 1
GUncertain significance
MED12
Single nucleotide variant
(synonymous variant)
FG syndrome 1
GLikely benign
MED12
(Q2076del)
Microsatellite
(inframe_deletion)
FG syndrome
+5 more
GLikely benign
MED12
Single nucleotide variant
(synonymous variant)
FG syndrome 1
GLikely benign
MED12
Single nucleotide variant
(synonymous variant)
FG syndrome 1
GLikely benign
MED12
Single nucleotide variant
(synonymous variant)
FG syndrome 1
+2 more
GLikely benign
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