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Items: 38

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MED12
Single nucleotide variant
(synonymous variant)
FG syndrome
+1 more
GConflicting classifications of pathogenicity
MED12
Single nucleotide variant
(synonymous variant)
MED12-related disorder
+4 more
GConflicting classifications of pathogenicity
MED12
Single nucleotide variant
(synonymous variant)
FG syndrome 1
+7 more
GBenign/Likely benign
MED12
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+2 more
GBenign/Likely benign
MED12
(T218M)
Single nucleotide variant
(missense variant)
MED12-related disorder
+3 more
GConflicting classifications of pathogenicity
MED12
Single nucleotide variant
(intron variant)
FG syndrome
+4 more
GBenign
MED12
(R422W)
Single nucleotide variant
(missense variant)
FG syndrome
+5 more
GConflicting classifications of pathogenicity
LOC126863275, MED12
Single nucleotide variant
(synonymous variant)
FG syndrome
+3 more
GBenign
LOC126863275, MED12
Single nucleotide variant
(synonymous variant)
FG syndrome
+1 more
GConflicting classifications of pathogenicity
MED12
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
MED12
Single nucleotide variant
(intron variant)
FG syndrome
+5 more
GConflicting classifications of pathogenicity
MED12
Single nucleotide variant
(synonymous variant)
History of neurodevelopmental disorder
+3 more
GBenign
MED12
Single nucleotide variant
(synonymous variant)
History of neurodevelopmental disorder
+3 more
GBenign/Likely benign
MED12
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MED12
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
MED12
(R1266H)
Single nucleotide variant
(missense variant)
FG syndrome
+2 more
GConflicting classifications of pathogenicity
MED12
(V1282M)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
MED12
Single nucleotide variant
(synonymous variant)
FG syndrome
+6 more
GBenign
MED12
Microsatellite
(intron variant)
not provided
GUncertain significance
MED12
Microsatellite
(intron variant)
not provided
GConflicting classifications of pathogenicity
MED12
Microsatellite
(intron variant)
not specified
GBenign
MED12
Microsatellite
(intron variant)
not specified
GBenign
MED12
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
MED12
(W1557R)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
MED12
(R1611G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MED12
Single nucleotide variant
(synonymous variant)
FG syndrome
+1 more
GConflicting classifications of pathogenicity
MED12
Single nucleotide variant
(synonymous variant)
FG syndrome
+2 more
GConflicting classifications of pathogenicity
MED12
Single nucleotide variant
(intron variant)
FG syndrome
+2 more
GConflicting classifications of pathogenicity
MED12
Single nucleotide variant
(synonymous variant)
History of neurodevelopmental disorder
+3 more
GBenign
MED12
(A1904V)
Single nucleotide variant
(missense variant)
FG syndrome
+4 more
GBenign/Likely benign
MED12
Microsatellite
(inframe_insertion)
FG syndrome
+2 more
GBenign/Likely benign
MED12
Microsatellite
(inframe_insertion)
FG syndrome
+4 more
GConflicting classifications of pathogenicity
MED12
Microsatellite
(inframe_insertion)
History of neurodevelopmental disorder
+5 more
GBenign/Likely benign
MED12
Microsatellite
(inframe_insertion)
FG syndrome
+4 more
GConflicting classifications of pathogenicity
MED12
Microsatellite
(inframe_insertion)
FG syndrome
+2 more
GConflicting classifications of pathogenicity
MED12
Single nucleotide variant
(synonymous variant)
FG syndrome
+2 more
GConflicting classifications of pathogenicity
MED12
Deletion
(inframe_deletion)
History of neurodevelopmental disorder
+5 more
GConflicting classifications of pathogenicity
MED12
Duplication
(inframe_insertion)
FG syndrome
+3 more
GBenign/Likely benign
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