"Eurofins Ntd Llc (ga)"[submitter] AND "SEC63"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 194646	NM_007214.5(SEC63):c.1605dup (p.Pro536fs)	SEC63 (P536fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 95474	NM_007214.5(SEC63):c.564C>T (p.Asn188=)	SEC63	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 189837	NM_007214.5(SEC63):c.340-12_340-7delinsCCCC	SEC63	Indel (intron variant)	Polycystic liver disease 2 +1 more	GBenign/Likely benign
Select item 95472	NM_007214.5(SEC63):c.340-12_340-7delinsCCC	SEC63	Indel (intron variant)	not specified	GBenign/Likely benign
Select item 197286	NM_007214.5(SEC63):c.340-12_340-11del	SEC63	Deletion (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 167670	NM_007214.5(SEC63):c.340-12del	SEC63	Deletion (intron variant)	not specified +2 more	GBenign
Select item 167669	NM_007214.5(SEC63):c.340-12G>T	SEC63	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 167671	NM_007214.5(SEC63):c.109del (p.Arg37fs)	SEC63 (R37fs)	Deletion (frameshift variant)	not provided	GPathogenic

ClinVar