U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 444

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC2A10
(C119Y)
Single nucleotide variant
(missense variant)
Arterial tortuosity syndrome
GUncertain significance
SLC2A10
Single nucleotide variant
(synonymous variant)
Arterial tortuosity syndrome
GLikely benign
SLC2A10
Single nucleotide variant
(synonymous variant)
Arterial tortuosity syndrome
GLikely benign
SLC2A10
(V28I)
Single nucleotide variant
(missense variant)
Arterial tortuosity syndrome
GUncertain significance
SLC2A10
Single nucleotide variant
(intron variant)
Arterial tortuosity syndrome
GLikely benign
SLC2A10
Deletion
(intron variant)
Arterial tortuosity syndrome
GLikely benign
SLC2A10
Single nucleotide variant
(synonymous variant)
Arterial tortuosity syndrome
GLikely benign
SLC2A10
Single nucleotide variant
(synonymous variant)
Arterial tortuosity syndrome
GLikely benign
SLC2A10
Single nucleotide variant
(intron variant)
Arterial tortuosity syndrome
GLikely benign
SLC2A10
Single nucleotide variant
(synonymous variant)
Arterial tortuosity syndrome
GLikely benign
SLC2A10
Single nucleotide variant
(synonymous variant)
Arterial tortuosity syndrome
GLikely benign
SLC2A10
Single nucleotide variant
(synonymous variant)
Arterial tortuosity syndrome
GLikely benign
SLC2A10
Indel
(inframe_indel)
Arterial tortuosity syndrome
GPathogenic
SLC2A10
Single nucleotide variant
(synonymous variant)
Arterial tortuosity syndrome
GLikely benign
SLC2A10
Single nucleotide variant
(synonymous variant)
Arterial tortuosity syndrome
GLikely benign
SLC2A10
Single nucleotide variant
(intron variant)
Arterial tortuosity syndrome
GLikely benign
SLC2A10
Single nucleotide variant
(synonymous variant)
Arterial tortuosity syndrome
GLikely benign
SLC2A10
Single nucleotide variant
(synonymous variant)
Arterial tortuosity syndrome
GLikely benign
SLC2A10
Single nucleotide variant
(intron variant)
Arterial tortuosity syndrome
GLikely benign
SLC2A10
Duplication
(intron variant)
Arterial tortuosity syndrome
GLikely benign
SLC2A10
Single nucleotide variant
(synonymous variant)
Arterial tortuosity syndrome
GLikely benign
SLC2A10
Single nucleotide variant
(synonymous variant)
Arterial tortuosity syndrome
GLikely benign
SLC2A10
Single nucleotide variant
(synonymous variant)
Arterial tortuosity syndrome
GLikely benign
SLC2A10
Single nucleotide variant
(synonymous variant)
Arterial tortuosity syndrome
GLikely benign
SLC2A10
(G23V)
Single nucleotide variant
(missense variant)
Arterial tortuosity syndrome
GLikely pathogenic
SLC2A10
(L20fs)
Duplication
(frameshift variant)
Arterial tortuosity syndrome
GLikely pathogenic
SLC2A10
Single nucleotide variant
(synonymous variant)
Arterial tortuosity syndrome
+2 more
GLikely benign
SLC2A10
(L300W)
Single nucleotide variant
(missense variant)
Arterial tortuosity syndrome
GLikely pathogenic
SLC2A10
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
SLC2A10
Single nucleotide variant
(synonymous variant)
Arterial tortuosity syndrome
GLikely benign
SLC2A10
Deletion
Arterial tortuosity syndrome
GPathogenic
SLC2A10
Single nucleotide variant
(intron variant)
Arterial tortuosity syndrome
GLikely benign
SLC2A10
(A302G)
Single nucleotide variant
(missense variant)
Arterial tortuosity syndrome
GUncertain significance
SLC2A10
(A449T)
Single nucleotide variant
(missense variant)
Arterial tortuosity syndrome
GUncertain significance
SLC2A10
Single nucleotide variant
(synonymous variant)
Arterial tortuosity syndrome
GLikely benign
SLC2A10
(P211R)
Single nucleotide variant
(missense variant)
Arterial tortuosity syndrome
GUncertain significance
SLC2A10
(I530V)
Single nucleotide variant
(missense variant)
Arterial tortuosity syndrome
GUncertain significance
SLC2A10
Single nucleotide variant
(synonymous variant)
Arterial tortuosity syndrome
GLikely benign
SLC2A10
Single nucleotide variant
(intron variant)
Arterial tortuosity syndrome
GLikely benign
SLC2A10
Single nucleotide variant
(intron variant)
Arterial tortuosity syndrome
GLikely benign
SLC2A10
(A111T)
Single nucleotide variant
(missense variant)
Arterial tortuosity syndrome
GUncertain significance
SLC2A10
(P398S)
Single nucleotide variant
(missense variant)
Arterial tortuosity syndrome
GUncertain significance
SLC2A10
(Q247K)
Single nucleotide variant
(missense variant)
Arterial tortuosity syndrome
GUncertain significance
SLC2A10
(Q338K)
Single nucleotide variant
(missense variant)
Arterial tortuosity syndrome
GUncertain significance
SLC2A10
Single nucleotide variant
(intron variant)
Arterial tortuosity syndrome
GLikely benign
SLC2A10
Single nucleotide variant
(synonymous variant)
Arterial tortuosity syndrome
GLikely benign
SLC2A10
(P378A)
Single nucleotide variant
(missense variant)
Arterial tortuosity syndrome
GUncertain significance
SLC2A10
Single nucleotide variant
(splice acceptor variant)
Arterial tortuosity syndrome
GLikely pathogenic
SLC2A10
(G326D)
Single nucleotide variant
(missense variant)
Arterial tortuosity syndrome
GUncertain significance
SLC2A10
(S124P)
Single nucleotide variant
(missense variant)
Arterial tortuosity syndrome
GUncertain significance
SLC2A10
Single nucleotide variant
(synonymous variant)
Arterial tortuosity syndrome
GLikely benign
SLC2A10
Single nucleotide variant
(synonymous variant)
Arterial tortuosity syndrome
GLikely benign
SLC2A10
Single nucleotide variant
(synonymous variant)
Arterial tortuosity syndrome
GLikely benign
SLC2A10
Single nucleotide variant
(synonymous variant)
Arterial tortuosity syndrome
GLikely benign
SLC2A10
(G2S)
Single nucleotide variant
(missense variant)
Arterial tortuosity syndrome
GUncertain significance
SLC2A10
Single nucleotide variant
(synonymous variant)
Arterial tortuosity syndrome
GLikely benign
SLC2A10
Single nucleotide variant
(synonymous variant)
Arterial tortuosity syndrome
GLikely benign
SLC2A10
Single nucleotide variant
(intron variant)
Arterial tortuosity syndrome
GLikely benign
SLC2A10
(R388W)
Single nucleotide variant
(missense variant)
Arterial tortuosity syndrome
GUncertain significance
SLC2A10
(P327T)
Single nucleotide variant
(missense variant)
Arterial tortuosity syndrome
GUncertain significance
SLC2A10
(M1V)
Single nucleotide variant
(missense variant +1 more)
Arterial tortuosity syndrome
GPathogenic
SLC2A10
(G483E)
Single nucleotide variant
(missense variant)
Arterial tortuosity syndrome
GUncertain significance
SLC2A10
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
SLC2A10
Single nucleotide variant
(intron variant)
Arterial tortuosity syndrome
GLikely benign
SLC2A10
(G529A)
Single nucleotide variant
(missense variant)
Arterial tortuosity syndrome
GUncertain significance
SLC2A10
(T431I)
Single nucleotide variant
(missense variant)
Arterial tortuosity syndrome
GUncertain significance
SLC2A10
(A99V)
Single nucleotide variant
(missense variant)
Arterial tortuosity syndrome
GUncertain significance
SLC2A10
Single nucleotide variant
(intron variant)
Arterial tortuosity syndrome
GUncertain significance
SLC2A10
Single nucleotide variant
(synonymous variant)
Arterial tortuosity syndrome
GLikely benign
SLC2A10
(G471D)
Single nucleotide variant
(missense variant)
Arterial tortuosity syndrome
GUncertain significance
SLC2A10
(G93V)
Single nucleotide variant
(missense variant)
Arterial tortuosity syndrome
GUncertain significance
SLC2A10
(A32G)
Single nucleotide variant
(missense variant)
Arterial tortuosity syndrome
GUncertain significance
SLC2A10
(L16S)
Single nucleotide variant
(missense variant)
Arterial tortuosity syndrome
GUncertain significance
SLC2A10
(S4fs)
Deletion
(frameshift variant)
Arterial tortuosity syndrome
GPathogenic
SLC2A10
Single nucleotide variant
(synonymous variant)
Arterial tortuosity syndrome
GLikely benign
SLC2A10
Single nucleotide variant
(synonymous variant)
Arterial tortuosity syndrome
+1 more
GConflicting classifications of pathogenicity
SLC2A10
(D468G)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
SLC2A10
(E442G)
Single nucleotide variant
(missense variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GUncertain significance
SLC2A10
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
SLC2A10
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
SLC2A10
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
SLC2A10
(I470F)
Single nucleotide variant
(missense variant)
Arterial tortuosity syndrome
GUncertain significance
SLC2A10
(T284N)
Single nucleotide variant
(missense variant)
Arterial tortuosity syndrome
GUncertain significance
SLC2A10
Single nucleotide variant
(synonymous variant)
Arterial tortuosity syndrome
GLikely benign
SLC2A10
Single nucleotide variant
(synonymous variant)
Arterial tortuosity syndrome
GLikely benign
SLC2A10
Single nucleotide variant
(synonymous variant)
Arterial tortuosity syndrome
GLikely benign
SLC2A10
Single nucleotide variant
(intron variant)
Arterial tortuosity syndrome
GLikely benign
SLC2A10
Single nucleotide variant
(intron variant)
Arterial tortuosity syndrome
GLikely benign
SLC2A10
Single nucleotide variant
(synonymous variant)
Arterial tortuosity syndrome
GLikely benign
SLC2A10
Single nucleotide variant
(synonymous variant)
Arterial tortuosity syndrome
GLikely benign
SLC2A10
Single nucleotide variant
(synonymous variant)
Familial thoracic aortic aneurysm and aortic dissection
+1 more
GLikely benign
SLC2A10
Single nucleotide variant
(synonymous variant)
Arterial tortuosity syndrome
GLikely benign
SLC2A10
Deletion
(intron variant)
Arterial tortuosity syndrome
GLikely benign
SLC2A10
Single nucleotide variant
(synonymous variant)
Arterial tortuosity syndrome
GLikely benign
SLC2A10
Single nucleotide variant
(synonymous variant)
Arterial tortuosity syndrome
GLikely benign
SLC2A10
Single nucleotide variant
(synonymous variant)
Arterial tortuosity syndrome
GLikely benign
SLC2A10
Single nucleotide variant
(synonymous variant)
Arterial tortuosity syndrome
GLikely benign
SLC2A10
Single nucleotide variant
(synonymous variant)
Arterial tortuosity syndrome
GLikely benign
SLC2A10
Single nucleotide variant
(synonymous variant)
Arterial tortuosity syndrome
GLikely benign
SLC2A10
Single nucleotide variant
(synonymous variant)
Arterial tortuosity syndrome
GLikely benign
Format
Items per page
Sort by
Choose Destination