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Links from MedGen

Items: 19

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SMOC1
Single nucleotide variant
(splice acceptor variant)
Microphthalmia with limb anomalies
GLikely pathogenic
SMOC1
(S161*)
Single nucleotide variant
(nonsense)
Microphthalmia with limb anomalies
GPathogenic
LOC126861980, SMOC1
Deletion
(intron variant)
not provided
+1 more
GBenign
LOC126861980, SMOC1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
LOC126861980, SMOC1
Single nucleotide variant
(intron variant)
Microphthalmia with limb anomalies
+1 more
GBenign
SMOC1
(R75*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
LOC126861980, SMOC1
(R286H)
Single nucleotide variant
(missense variant)
Microphthalmia with limb anomalies
GPathogenic
LOC126861980, SMOC1
(C271Y)
Single nucleotide variant
(missense variant)
Microphthalmia with limb anomalies
GLikely pathogenic
SMOC1
Single nucleotide variant
(splice donor variant)
Microphthalmia with limb anomalies
GPathogenic
SMOC1
(C408Y)
Single nucleotide variant
(missense variant)
Microphthalmia with limb anomalies
GLikely pathogenic
LOC126861980, SMOC1
(E237*)
Single nucleotide variant
(nonsense)
Microphthalmia with limb anomalies
GPathogenic
SMOC1
(S123P)
Single nucleotide variant
(missense variant)
Microphthalmia with limb anomalies
GPathogenic
SMOC1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
LOC126861980, SMOC1
Single nucleotide variant
(intron variant)
Microphthalmia with limb anomalies
+2 more
GBenign
LOC126861980, SMOC1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
SMOC1
Single nucleotide variant
(synonymous variant)
Microphthalmia with limb anomalies
+2 more
GBenign
SMOC1
Single nucleotide variant
(splice donor variant)
Microphthalmia with limb anomalies
GPathogenic
SMOC1
Single nucleotide variant
(splice donor variant)
Microphthalmia with limb anomalies
GPathogenic
LOC126861980, SMOC1
(Q240*)
Single nucleotide variant
(nonsense)
Microphthalmia with limb anomalies
GPathogenic
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