"3billion"[submitter] AND "SMC1A"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1068642	NM_006306.4(SMC1A):c.3145C>T (p.Arg1049Ter)	SMC1A (R1027* +1 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 85, with or without midline brain defects +1 more	GPathogenic
Select item 975860	NM_006306.4(SMC1A):c.2611C>T (p.Gln871Ter)	SMC1A (Q849* +1 more)	Single nucleotide variant (nonsense)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GPathogenic/Likely pathogenic
Select item 29929	NM_006306.4(SMC1A):c.2351T>C (p.Ile784Thr)	SMC1A (I784T +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1526114	NM_006306.4(SMC1A):c.1756C>T (p.Arg586Trp)	SMC1A (R564W +1 more)	Single nucleotide variant (missense variant)	Congenital muscular hypertrophy-cerebral syndrome +1 more	GLikely pathogenic
Select item 11675	NM_006306.4(SMC1A):c.1487G>A (p.Arg496His)	SMC1A (R496H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1320145	NM_006306.4(SMC1A):c.109+575dup	SMC1A (T8fs)	Duplication (frameshift variant +1 more)	Congenital muscular hypertrophy-cerebral syndrome	GPathogenic

ClinVar