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Items: 28

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL11A1
(P1680L +3 more)
Single nucleotide variant
(missense variant +1 more)
Stickler syndrome type 2
+2 more
GConflicting classifications of pathogenicity
COL11A1
(S1573L +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
COL11A1
(H1441Y +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COL11A1
(G1366R +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COL11A1
(K1391I +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GConflicting classifications of pathogenicity
COL11A1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
COL11A1
(G1262fs +3 more)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
COL11A1
(G1235V +3 more)
Single nucleotide variant
(missense variant +1 more)
Stickler syndrome type 2
+1 more
GConflicting classifications of pathogenicity
COL11A1
(P1228L +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COL11A1
Deletion
(inframe_deletion +2 more)
not provided
GUncertain significance
COL11A1
(P1269L +3 more)
Single nucleotide variant
(missense variant +1 more)
Stickler syndrome type 2
+2 more
GUncertain significance
COL11A1
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
COL11A1
(G1132S +3 more)
Single nucleotide variant
(missense variant +1 more)
Stickler syndrome type 2
+3 more
GUncertain significance
COL11A1
(R1037H +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
COL11A1
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
COL11A1
(T838P +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COL11A1
(P873L +3 more)
Single nucleotide variant
(missense variant +1 more)
Fibrochondrogenesis 1
+2 more
GConflicting classifications of pathogenicity
COL11A1
Single nucleotide variant
(intron variant)
not specified
+1 more
GConflicting classifications of pathogenicity
COL11A1
(G722R +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COL11A1
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
COL11A1
Single nucleotide variant
(intron variant)
COL11A1-related disorder
+3 more
GUncertain significance
COL11A1
(P453L +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GConflicting classifications of pathogenicity
COL11A1
(M418V +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COL11A1
(E353Q +2 more)
Single nucleotide variant
(missense variant +2 more)
Stickler syndrome type 2
+2 more
GConflicting classifications of pathogenicity
COL11A1
(T187K)
Single nucleotide variant
(missense variant +1 more)
not provided
GConflicting classifications of pathogenicity
COL11A1
(T187M)
Single nucleotide variant
(missense variant +1 more)
Fibrochondrogenesis 1
+2 more
GConflicting classifications of pathogenicity
COL11A1
(A160T)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
COL11A1
(T58M)
Single nucleotide variant
(missense variant +1 more)
not provided
GConflicting classifications of pathogenicity
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