"Invitae"[submitter] AND "SELE"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 789698	NM_000450.2(SELE):c.1261G>C (p.Glu421Gln)	SELE (E421Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 711295	NM_000450.2(SELE):c.1260C>T (p.Asn420=)	SELE	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 719000	NM_000450.2(SELE):c.1210T>C (p.Leu404=)	SELE	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 788718	NM_000450.2(SELE):c.887A>C (p.Lys296Thr)	SELE (K296T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 715852	NM_000450.2(SELE):c.883G>A (p.Glu295Lys)	SELE (E295K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 773415	NM_000450.2(SELE):c.873T>C (p.Asn291=)	SELE	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 730763	NM_000450.2(SELE):c.624C>T (p.Ile208=)	SELE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1457087	NC_000001.10:g.(?_169660781)_(170521603_?)del	FIRRM, GORAB +6 more	Deletion	not provided	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance

ClinVar