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Links from MedGen

Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL9A3
(R577*)
Single nucleotide variant
(nonsense)
Epiphyseal dysplasia, multiple, 3
+3 more
GPathogenic/Likely pathogenic
COL9A3
(R90*)
Single nucleotide variant
(nonsense)
Stickler syndrome
+1 more
GPathogenic
LOXHD1
(V770I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
COL9A2
(R504*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
COL2A1
(T386M +1 more)
Single nucleotide variant
(missense variant)
Stickler syndrome
+1 more
GConflicting classifications of pathogenicity
CDH23
(V1997M)
Single nucleotide variant
(missense variant)
Stickler syndrome
+1 more
GUncertain significance
COL2A1
Deletion
(splice acceptor variant)
Stickler syndrome
GLikely pathogenic
COL9A2
(G592S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
COL4A3, MFF-DT
(S1147F)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
LOXL3
(L299del +2 more)
Deletion
(inframe_deletion)
Stickler syndrome
+2 more
GConflicting classifications of pathogenicity
ALMS1
(T2259fs +1 more)
Deletion
(frameshift variant)
Stickler syndrome
+2 more
GPathogenic/Likely pathogenic
COL11A1
Deletion
(splice acceptor variant)
Stickler syndrome
+2 more
GPathogenic
COL2A1
Duplication
(inframe_insertion)
Stickler syndrome
GPathogenic
COL2A1
(E1051fs +1 more)
Insertion
(frameshift variant)
Stickler syndrome
GPathogenic
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