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Links from MedGen

Items: 50

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MED12
(Q2110E)
Single nucleotide variant
(missense variant)
FG syndrome
+2 more
Gnot provided
MED12
(R1341Q)
Single nucleotide variant
(missense variant)
X-linked intellectual disability with marfanoid habitus
+6 more
GUncertain significance
MED12
(S317P)
Single nucleotide variant
(missense variant)
X-linked intellectual disability with marfanoid habitus
GLikely benign
MED12
(S849F)
Single nucleotide variant
(missense variant)
X-linked intellectual disability with marfanoid habitus
GLikely pathogenic
MED12
Single nucleotide variant
(synonymous variant)
FG syndrome 1
+2 more
GUncertain significance
MED12
Single nucleotide variant
(intron variant)
X-linked intellectual disability with marfanoid habitus
+4 more
GBenign/Likely benign
MED12
Single nucleotide variant
(synonymous variant)
FG syndrome
+1 more
GUncertain significance
MED12
(M2026V)
Single nucleotide variant
(missense variant)
Blepharophimosis - intellectual disability syndrome, MKB type
+4 more
GUncertain significance
MED12
(T1945S)
Single nucleotide variant
(missense variant)
FG syndrome
+1 more
GUncertain significance
MED12
(A147T)
Single nucleotide variant
(missense variant)
MED12-related disorder
+6 more
GConflicting classifications of pathogenicity
MED12
Single nucleotide variant
(splice donor variant)
FG syndrome
+1 more
GPathogenic/Likely pathogenic
MED12
Single nucleotide variant
(intron variant)
FG syndrome
+1 more
GUncertain significance
MED12
(R1205C)
Single nucleotide variant
(missense variant)
X-linked intellectual disability with marfanoid habitus
GUncertain significance
LOC126863275, MED12
(L480P)
Single nucleotide variant
(missense variant)
X-linked intellectual disability with marfanoid habitus
GUncertain significance
MED12
(G888A)
Single nucleotide variant
(missense variant)
X-linked intellectual disability with marfanoid habitus
GUncertain significance
MED12
(R1214C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
MED12
(Q1316E)
Single nucleotide variant
(missense variant)
FG syndrome
+3 more
GUncertain significance
MED12
(R850Q)
Single nucleotide variant
(missense variant)
X-linked intellectual disability with marfanoid habitus
+1 more
GUncertain significance
MED12
(M666V)
Single nucleotide variant
(missense variant)
X-linked intellectual disability with marfanoid habitus
+5 more
GConflicting classifications of pathogenicity
MED12
Single nucleotide variant
(intron variant)
X-linked intellectual disability with marfanoid habitus
+1 more
GLikely benign
MED12
(E1248Q)
Single nucleotide variant
(missense variant)
X-linked intellectual disability with marfanoid habitus
GUncertain significance
LOC126863275, MED12
(T459I)
Single nucleotide variant
(missense variant)
FG syndrome
GUncertain significance
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
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)
Blepharophimosis - intellectual disability syndrome, MKB type
+6 more
GUncertain significance
MED12
(R206G)
Single nucleotide variant
(missense variant)
FG syndrome
GUncertain significance
MED12
(S849P)
Single nucleotide variant
(missense variant)
FG syndrome 1
+2 more
GUncertain significance
MED12
(Q2076del)
Microsatellite
(inframe_deletion)
Cholestasis-pigmentary retinopathy-cleft palate syndrome
+6 more
GLikely benign
MED12
Single nucleotide variant
(synonymous variant)
FG syndrome
+6 more
GBenign/Likely benign
MED12
Single nucleotide variant
(synonymous variant)
X-linked intellectual disability with marfanoid habitus
+6 more
GBenign/Likely benign
MED12
Single nucleotide variant
(synonymous variant)
not specified
+7 more
GBenign/Likely benign
MED12
Single nucleotide variant
(intron variant)
not provided
+4 more
GBenign
MED12
Single nucleotide variant
(intron variant)
not provided
+4 more
GBenign
MED12
Single nucleotide variant
(intron variant)
Blepharophimosis - intellectual disability syndrome, MKB type
+4 more
GBenign
MED12
Single nucleotide variant
(intron variant)
Blepharophimosis - intellectual disability syndrome, MKB type
+4 more
GBenign/Likely benign
MED12
(R1341W)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+3 more
GUncertain significance
MED12
(R1295C)
Single nucleotide variant
(missense variant)
FG syndrome 1
+2 more
GConflicting classifications of pathogenicity
MED12
(T617A)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+5 more
GConflicting classifications of pathogenicity
MED12
(R422W)
Single nucleotide variant
(missense variant)
X-linked intellectual disability with marfanoid habitus
+5 more
GConflicting classifications of pathogenicity
MED12
(S347G)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
MED12
(M2033V)
Single nucleotide variant
(missense variant)
MED12-related disorder
+6 more
GConflicting classifications of pathogenicity
MED12
(A1383T)
Single nucleotide variant
(missense variant)
Blepharophimosis - intellectual disability syndrome, MKB type
+4 more
GConflicting classifications of pathogenicity
MED12
(P1371S)
Single nucleotide variant
(missense variant)
X-linked intellectual disability with marfanoid habitus
+7 more
GLikely benign
MED12
(V312L)
Single nucleotide variant
(missense variant)
FG syndrome
+4 more
GBenign/Likely benign
MED12
Single nucleotide variant
(intron variant)
FG syndrome
+4 more
GBenign
MED12
Single nucleotide variant
(synonymous variant)
FG syndrome
+6 more
GBenign
MED12
Single nucleotide variant
(intron variant)
FG syndrome
+5 more
GConflicting classifications of pathogenicity
MED12
(N1007S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
MED12
(R961W)
Single nucleotide variant
(missense variant)
FG syndrome
+6 more
GPathogenic/Likely pathogenic
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