"Revvity Omics, Revvity"[submitter] AND "LOC126862987"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 897911	NM_006363.6(SEC23B):c.389T>C (p.Ile130Thr)	LOC126862987, SEC23B (I130T)	Single nucleotide variant (missense variant +1 more)	Congenital dyserythropoietic anemia, type II +1 more	GUncertain significance
Select item 1323571	NM_006363.6(SEC23B):c.443_444del (p.Lys148fs)	LOC126862987, SEC23B (K130fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2689934	NM_006363.6(SEC23B):c.539G>A (p.Cys180Tyr)	LOC126862987, SEC23B (C162Y +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1227	NM_006363.6(SEC23B):c.649C>T (p.Arg217Ter)	LOC126862987, SEC23B (R217* +1 more)	Single nucleotide variant (nonsense)	Cowden syndrome 7 +2 more	GPathogenic/Likely pathogenic
Select item 2435788	NM_006363.6(SEC23B):c.652C>A (p.Pro218Thr)	LOC126862987, SEC23B (P200T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 95389	NM_006363.6(SEC23B):c.689+1G>A	LOC126862987, SEC23B	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic

ClinVar