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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL2A1
(D1150N +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
COL2A1
(G720S +1 more)
Single nucleotide variant
(missense variant)
Stickler syndrome type 1
+1 more
GConflicting classifications of pathogenicity
COL2A1
(G714D +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
COL2A1
(G618S +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
COL2A1
(P389A +1 more)
Single nucleotide variant
(missense variant)
Stickler syndrome type 1
GUncertain significance
COL2A1
(G261D +1 more)
Single nucleotide variant
(missense variant)
Stickler syndrome type 1
GUncertain significance
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