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Links from MedGen

Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TGFB1
(L11Q)
Single nucleotide variant
(missense variant)
Diaphyseal dysplasia
+4 more
GUncertain significance
TGFB1
(M133I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TGFB1
(F239I)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LOC130064510, TGFB1
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign
TGFB1
(C387R)
Single nucleotide variant
(missense variant)
Inflammatory bowel disease, immunodeficiency, and encephalopathy
GLikely pathogenic
TGFB1, LOC130064510
(R110C)
Single nucleotide variant
(missense variant)
Inflammatory bowel disease, immunodeficiency, and encephalopathy
GLikely pathogenic
LOC130064510, TGFB1
(R45C)
Single nucleotide variant
(missense variant)
Inflammatory bowel disease, immunodeficiency, and encephalopathy
GLikely pathogenic
TGFB1
Single nucleotide variant
(intron variant)
not provided
+4 more
GBenign/Likely benign
TGFB1
(P10L)
Single nucleotide variant
(missense variant)
Diaphyseal dysplasia
+4 more
GBenign
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