ClinVar for MedGen (Select 154638) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1325107	NM_001034852.3(SMOC1):c.584-2A>G	SMOC1	Single nucleotide variant (splice acceptor variant)	Microphthalmia with limb anomalies	GLikely pathogenic
Select item 1323630	NM_001034852.3(SMOC1):c.482C>A (p.Ser161Ter)	SMOC1 (S161*)	Single nucleotide variant (nonsense)	Microphthalmia with limb anomalies	GPathogenic
Select item 1269782	NM_001034852.3(SMOC1):c.858-27del	LOC126861980, SMOC1	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1233175	NM_001034852.3(SMOC1):c.858-26C>T	LOC126861980, SMOC1	Single nucleotide variant (intron variant)	Microphthalmia with limb anomalies +1 more	GBenign
Select item 1222669	NM_001034852.3(SMOC1):c.857+32C>T	LOC126861980, SMOC1	Single nucleotide variant (intron variant)	Microphthalmia with limb anomalies +1 more	GBenign
Select item 599220	NM_001034852.3(SMOC1):c.223C>T (p.Arg75Ter)	SMOC1 (R75*)	Single nucleotide variant (nonsense)	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 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 562135	NM_001034852.3(SMOC1):c.378+1G>T	SMOC1	Single nucleotide variant (splice donor 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
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 427815	NM_001034852.3(SMOC1):c.367T>C (p.Ser123Pro)	SMOC1 (S123P)	Single nucleotide variant (missense variant)	Microphthalmia with limb anomalies	GPathogenic
Select item 287146	NM_001034852.3(SMOC1):c.567G>A (p.Pro189=)	SMOC1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely 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 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 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 30728	NM_001034852.3(SMOC1):c.378+1G>A	SMOC1	Single nucleotide variant (splice donor variant)	Microphthalmia with limb anomalies	GPathogenic
Select item 30727	NM_001034852.3(SMOC1):c.664+1G>A	SMOC1	Single nucleotide variant (splice donor variant)	Microphthalmia with limb anomalies	GPathogenic
Select item 30726	NM_001034852.3(SMOC1):c.718C>T (p.Gln240Ter)	LOC126861980, SMOC1 (Q240*)	Single nucleotide variant (nonsense)	Microphthalmia with limb anomalies	GPathogenic