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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130002223, TGFBR1
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
+2 more
GBenign/Likely benign
TGFBR1
Microsatellite
(inframe_insertion)
not specified
+4 more
GConflicting classifications of pathogenicity
TGFBR1
(A26del)
Microsatellite
(inframe_deletion)
Ehlers-Danlos syndrome
+3 more
GBenign/Likely benign
TGFBR1
Microsatellite
(inframe_deletion)
Familial thoracic aortic aneurysm and aortic dissection
+5 more
GBenign/Likely benign
TGFBR1
(K64R)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
TGFBR1
Single nucleotide variant
(synonymous variant +1 more)
TGFBR1-related condition
+5 more
GConflicting classifications of pathogenicity
TGFBR1
Single nucleotide variant
(synonymous variant)
Loeys-Dietz syndrome
+2 more
GConflicting classifications of pathogenicity
TGFBR1
Single nucleotide variant
(synonymous variant)
not specified
+6 more
GBenign/Likely benign
TGFBR1
(N401S +2 more)
Single nucleotide variant
(missense variant)
TGFBR1-related condition
+7 more
GConflicting classifications of pathogenicity
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