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Links from MedGen

Items: 36

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL18A1, SLC19A1
(S1028* +2 more)
Single nucleotide variant
(nonsense)
Knobloch syndrome 1
GLikely pathogenic
COL18A1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL18A1
Single nucleotide variant
(splice acceptor variant)
Knobloch syndrome 1
+1 more
GLikely pathogenic
COL18A1
(T697M +2 more)
Single nucleotide variant
(missense variant)
Knobloch syndrome 1
+1 more
GUncertain significance
COL18A1
Single nucleotide variant
(splice donor variant)
Knobloch syndrome 1
+1 more
GPathogenic/Likely pathogenic
COL18A1
Deletion
(inframe_deletion)
Glaucoma, primary closed-angle
+1 more
GBenign
COL18A1, SLC19A1
Single nucleotide variant
(synonymous variant)
Knobloch syndrome 1
+2 more
GLikely benign
COL18A1, SLC19A1
Single nucleotide variant
(intron variant)
Glaucoma, primary closed-angle
+2 more
GLikely benign
COL18A1
Single nucleotide variant
(intron variant)
Knobloch syndrome 1
+2 more
GBenign/Likely benign
COL18A1, SLC19A1
(A1149V +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
COL18A1, SLC19A1
(G1090R +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
COL18A1
(R353Q +2 more)
Single nucleotide variant
(missense variant)
Glaucoma, primary closed-angle
+3 more
GUncertain significance
COL18A1
(P425fs +2 more)
Deletion
(frameshift variant)
Knobloch syndrome 1
+1 more
GPathogenic
COL18A1
(G754S +2 more)
Single nucleotide variant
(missense variant)
Glaucoma, primary closed-angle
+2 more
GUncertain significance
COL18A1
(V611A +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
COL18A1
(G814S +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
COL18A1, SLC19A1
(P1576L +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
COL18A1
(R193W +2 more)
Single nucleotide variant
(missense variant)
Glaucoma, primary closed-angle
+3 more
GUncertain significance
COL18A1, SLC19A1
(G977S +2 more)
Single nucleotide variant
(missense variant)
Glaucoma, primary closed-angle
+2 more
GUncertain significance
COL18A1
(P581fs +2 more)
Duplication
(frameshift variant)
not provided
+2 more
GPathogenic
COL18A1, SLC19A1
(A1431V +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
COL18A1, SLC19A1
Single nucleotide variant
(intron variant)
Knobloch syndrome 1
+2 more
GBenign/Likely benign
COL18A1, SLC19A1
(R1106W +2 more)
Single nucleotide variant
(missense variant)
COL18A1-related condition
+3 more
GLikely benign
COL18A1, SLC19A1
(G1430R +2 more)
Single nucleotide variant
(missense variant)
Glaucoma, primary closed-angle
+2 more
GUncertain significance
COL18A1, SLC19A1
(R1160H +2 more)
Single nucleotide variant
(missense variant)
Knobloch syndrome 1
+2 more
GUncertain significance
COL18A1
(G1113R +2 more)
Single nucleotide variant
(missense variant)
Knobloch syndrome 1
+2 more
GUncertain significance
COL18A1, SLC19A1
(R1160C +2 more)
Single nucleotide variant
(missense variant)
Glaucoma, primary closed-angle
+2 more
GUncertain significance
COL18A1, SLC19A1
(P1405fs +2 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
COL18A1
Single nucleotide variant
(synonymous variant)
Knobloch syndrome 1
+3 more
GLikely benign
COL18A1, SLC19A1
Single nucleotide variant
(synonymous variant)
Glaucoma, primary closed-angle
+4 more
GBenign/Likely benign
COL18A1
Single nucleotide variant
(intron variant)
Glaucoma, primary closed-angle
+2 more
GBenign/Likely benign
COL18A1, SLC19A1
(L1082del +1 more)
Microsatellite
(inframe_deletion)
Glaucoma, primary closed-angle
+3 more
GBenign/Likely benign
COL18A1
(G1072fs +2 more)
Duplication
(frameshift variant)
not provided
+2 more
GPathogenic
COL18A1, SLC19A1
(P1078L +1 more)
Single nucleotide variant
(missense variant)
Glaucoma, primary closed-angle
+3 more
GUncertain significance
COL18A1
(V385M +1 more)
Single nucleotide variant
(missense variant)
Glaucoma, primary closed-angle
+3 more
GUncertain significance
COL18A1, SLC19A1
(L1352fs +2 more)
Deletion
(frameshift variant)
Glaucoma, primary closed-angle
+4 more
GPathogenic
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