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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL9A1, LOC129996692
(P396T +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
COL9A1, LOC129996692
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
COL9A1, LOC129996692
(G142V +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
LOC129996692, COL9A1
Single nucleotide variant
(intron variant)
not provided
GBenign/Likely benign
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