"Laboratory of Medical Genetics, University of Torino"[submitter] AND - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 562135	NM_001034852.3(SMOC1):c.378+1G>T	SMOC1	Single nucleotide variant (splice donor variant)	Microphthalmia with limb anomalies	GPathogenic
Select item 562133	NM_001034852.3(SMOC1):c.709G>T (p.Glu237Ter)	LOC126861980, SMOC1 (E237*)	Single nucleotide variant (nonsense)	Microphthalmia with limb anomalies	GPathogenic
Select item 562136	NM_001034852.3(SMOC1):c.812G>A (p.Cys271Tyr)	LOC126861980, SMOC1 (C271Y)	Single nucleotide variant (missense variant)	Microphthalmia with limb anomalies	GLikely pathogenic
Select item 562137	NM_001034852.3(SMOC1):c.857G>A (p.Arg286His)	LOC126861980, SMOC1 (R286H)	Single nucleotide variant (missense variant)	Microphthalmia with limb anomalies	GPathogenic
Select item 562134	NM_001034852.3(SMOC1):c.1223G>A (p.Cys408Tyr)	SMOC1 (C408Y)	Single nucleotide variant (missense variant)	Microphthalmia with limb anomalies	GLikely pathogenic

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