"PreventionGenetics, part of Exact Sciences"[submitter] AND "SMOC1"[ge - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 769863	NM_001034852.3(SMOC1):c.103C>G (p.Leu35Val)	SMOC1 (L35V)	Single nucleotide variant (missense variant)	SMOC1-related disorder +1 more	GBenign/Likely benign
Select item 257188	NM_001034852.3(SMOC1):c.126G>A (p.Gln42=)	SMOC1	Single nucleotide variant (synonymous variant)	Microphthalmia with limb anomalies +2 more	GBenign
Select item 737631	NM_001034852.3(SMOC1):c.163A>T (p.Ile55Phe)	SMOC1 (I55F)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1897340	NM_001034852.3(SMOC1):c.189C>T (p.Tyr63=)	SMOC1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 282562	NM_001034852.3(SMOC1):c.230C>T (p.Pro77Leu)	SMOC1 (P77L)	Single nucleotide variant (missense variant)	SMOC1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 730045	NM_001034852.3(SMOC1):c.253G>C (p.Gly85Arg)	SMOC1 (G85R)	Single nucleotide variant (missense variant)	SMOC1-related disorder +1 more	GLikely benign
Select item 749270	NM_001034852.3(SMOC1):c.266-8T>C	SMOC1	Single nucleotide variant (intron variant)	SMOC1-related disorder +1 more	GLikely benign
Select item 257189	NM_001034852.3(SMOC1):c.702C>T (p.Ala234=)	LOC126861980, SMOC1	Single nucleotide variant (synonymous variant)	Microphthalmia with limb anomalies +2 more	GBenign
Select item 3032615	NM_001034852.3(SMOC1):c.857+10C>A	LOC126861980, SMOC1	Single nucleotide variant (intron variant)	SMOC1-related disorder	GLikely benign
Select item 257190	NM_001034852.3(SMOC1):c.858-19C>A	LOC126861980, SMOC1	Single nucleotide variant (intron variant)	Microphthalmia with limb anomalies +2 more	GBenign
Select item 3040001	NM_001034852.3(SMOC1):c.981A>G (p.Leu327=)	SMOC1	Single nucleotide variant (synonymous variant)	SMOC1-related disorder	GLikely benign
Select item 257186	NM_001034852.3(SMOC1):c.1046+7T>A	SMOC1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 257187	NM_001034852.3(SMOC1):c.1161C>T (p.Phe387=)	SMOC1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign