U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 54

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MED12
(R1722Q)
Single nucleotide variant
(missense variant)
Blepharophimosis - intellectual disability syndrome, MKB type
GUncertain significance
MED12
(D1770E)
Single nucleotide variant
(missense variant)
Blepharophimosis - intellectual disability syndrome, MKB type
GUncertain significance
MED12
Single nucleotide variant
(intron variant)
Blepharophimosis - intellectual disability syndrome, MKB type
GUncertain significance
MED12
(Y2006C)
Single nucleotide variant
(missense variant)
Blepharophimosis - intellectual disability syndrome, MKB type
GUncertain significance
MED12
(R1341Q)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+6 more
GUncertain significance
MED12
Single nucleotide variant
(synonymous variant)
FG syndrome 1
+2 more
GUncertain significance
MED12
Single nucleotide variant
(intron variant)
Blepharophimosis - intellectual disability syndrome, MKB type
GLikely pathogenic
MED12
Single nucleotide variant
(intron variant)
FG syndrome 1
+4 more
GBenign/Likely benign
MED12
(M2026V)
Single nucleotide variant
(missense variant)
X-linked intellectual disability with marfanoid habitus
+4 more
GUncertain significance
MED12
(L2158I)
Single nucleotide variant
(missense variant)
Blepharophimosis - intellectual disability syndrome, MKB type
GUncertain significance
MED12
(L275V)
Single nucleotide variant
(missense variant)
Blepharophimosis - intellectual disability syndrome, MKB type
GUncertain significance
MED12
(A147T)
Single nucleotide variant
(missense variant)
Cholestasis-pigmentary retinopathy-cleft palate syndrome
+6 more
GConflicting classifications of pathogenicity
MED12
(R1138W)
Single nucleotide variant
(missense variant)
Blepharophimosis - intellectual disability syndrome, MKB type
+2 more
GConflicting classifications of pathogenicity
MED12
(V1216M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
MED12
(R206Q)
Single nucleotide variant
(missense variant)
FG syndrome
+1 more
GConflicting classifications of pathogenicity
MED12
(Q2136R)
Single nucleotide variant
(missense variant)
Blepharophimosis - intellectual disability syndrome, MKB type
GLikely pathogenic
MED12
(P1860S)
Single nucleotide variant
(missense variant)
Blepharophimosis - intellectual disability syndrome, MKB type
GLikely pathogenic
MED12
(Q1316E)
Single nucleotide variant
(missense variant)
X-linked intellectual disability with marfanoid habitus
+3 more
GUncertain significance
MED12
(M666V)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
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)
FG syndrome
+6 more
GUncertain significance
MED12
Single nucleotide variant
(intron variant)
Blepharophimosis - intellectual disability syndrome, MKB type
GUncertain significance
MED12
Single nucleotide variant
(intron variant)
Blepharophimosis - intellectual disability syndrome, MKB type
GUncertain significance
MED12
(R296Q)
Single nucleotide variant
(missense variant)
FG syndrome 1
+4 more
GPathogenic/Likely pathogenic
MED12
Deletion
(inframe_deletion)
Familial thoracic aortic aneurysm and aortic dissection
+2 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
(Q2159P)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
MED12
(Q2076del)
Microsatellite
(inframe_deletion)
FG syndrome 1
+5 more
GLikely benign
MED12
(R91L)
Single nucleotide variant
(missense variant)
Blepharophimosis - intellectual disability syndrome, MKB type
+2 more
GUncertain significance
MED12
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+6 more
GBenign/Likely benign
MED12
Single nucleotide variant
(synonymous variant)
FG syndrome 1
+6 more
GBenign/Likely benign
MED12
(R1611C)
Single nucleotide variant
(missense variant)
Blepharophimosis - intellectual disability syndrome, MKB type
+1 more
GPathogenic/Likely pathogenic
MED12
Single nucleotide variant
(synonymous variant)
FG syndrome
+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
(T617A)
Single nucleotide variant
(missense variant)
FG syndrome
+5 more
GConflicting classifications of pathogenicity
MED12
(R422W)
Single nucleotide variant
(missense variant)
not provided
+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)
Familial thoracic aortic aneurysm and aortic dissection
+6 more
GConflicting classifications of pathogenicity
MED12
(A1383T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
MED12
(P1371S)
Single nucleotide variant
(missense variant)
Blepharophimosis - intellectual disability syndrome, MKB type
+7 more
GLikely benign
MED12
Single nucleotide variant
(intron variant)
FG syndrome
+4 more
GBenign
MED12
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GBenign
MED12
Single nucleotide variant
(intron variant)
FG syndrome
+5 more
GConflicting classifications of pathogenicity
MED12
(H1729N)
Single nucleotide variant
(missense variant)
Blepharophimosis - intellectual disability syndrome, MKB type
GPathogenic
MED12
(S1165P)
Single nucleotide variant
(missense variant)
Blepharophimosis - intellectual disability syndrome, MKB type
GPathogenic
MED12
(R1148H)
Single nucleotide variant
(missense variant)
FG syndrome 1
+1 more
GPathogenic
MED12
(R961W)
Single nucleotide variant
(missense variant)
Intellectual disability
+6 more
GPathogenic/Likely pathogenic
Format
Items per page
Sort by
Choose Destination