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Links from MedGen

Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TGFB1
(L11Q)
Single nucleotide variant
(missense variant)
Diaphyseal dysplasia
+3 more
GUncertain significance
LOC130064510, TGFB1
Single nucleotide variant
(intron variant)
Cystic fibrosis
+3 more
GBenign
LRP5
(L540F)
Single nucleotide variant
(5 prime UTR variant +1 more)
Diaphyseal dysplasia
+6 more
GUncertain significance
TGFB1
(Y171C)
Single nucleotide variant
(missense variant)
Diaphyseal dysplasia
GLikely pathogenic
TGFB1
(G238R)
Single nucleotide variant
(missense variant)
Diaphyseal dysplasia
GUncertain significance
TGFB1
(W179R)
Single nucleotide variant
(missense variant)
Diaphyseal dysplasia
GUncertain significance
TGFB1
Single nucleotide variant
(intron variant)
not specified
+4 more
GBenign/Likely benign
TGFB1
(H222D)
Single nucleotide variant
(missense variant)
Diaphyseal dysplasia
Gnot provided
TGFB1
Microsatellite
(inframe_insertion)
not provided
GUncertain significance
TGFB1
(P10L)
Single nucleotide variant
(missense variant)
Inflammatory bowel disease, immunodeficiency, and encephalopathy
+4 more
GBenign
TGFB1
(C223R)
Single nucleotide variant
(missense variant)
Diaphyseal dysplasia
GPathogenic
LOC130064510, TGFB1
(Y81H)
Single nucleotide variant
(missense variant)
Diaphyseal dysplasia
GPathogenic
TGFB1
(R218C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
TGFB1
(C223G)
Single nucleotide variant
(missense variant)
Diaphyseal dysplasia
GPathogenic
TGFB1
(R218H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
TGFB1
(C225R)
Single nucleotide variant
(missense variant)
Diaphyseal dysplasia
GPathogenic
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