"Baylor Genetics"[submitter] AND "SMC3"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1028889	NM_005445.4(SMC3):c.130+11C>G	SMC3	Single nucleotide variant (intron variant)	Cornelia de Lange syndrome 3	GUncertain significance
Select item 209193	NM_005445.4(SMC3):c.587T>C (p.Ile196Thr)	SMC3 (I196T)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 3	GLikely pathogenic
Select item 523214	NM_005445.4(SMC3):c.1450GCT[1] (p.Ala485del)	SMC3 (A485del)	Microsatellite (inframe_deletion)	Cornelia de Lange syndrome 3	GLikely pathogenic
Select item 523215	NM_005445.4(SMC3):c.2111T>C (p.Ile704Thr)	SMC3 (I704T)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 3	GLikely pathogenic
Select item 523216	NM_005445.4(SMC3):c.3362C>T (p.Ser1121Phe)	SMC3 (S1121F)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 3 +1 more	GConflicting classifications of pathogenicity
Select item 625657	GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not provided	GPathogenic

ClinVar