"Invitae"[submitter] AND "SEC16B"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 786475	NM_033127.4(SEC16B):c.3092A>G (p.Asn1031Ser)	CRYZL2P-SEC16B, SEC16B (N1031S +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 720900	NM_033127.4(SEC16B):c.2804C>T (p.Ser935Leu)	CRYZL2P-SEC16B, SEC16B (S935L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 732165	NM_033127.4(SEC16B):c.2550A>C (p.Gln850His)	SEC16B, CRYZL2P-SEC16B (Q850H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 773416	NM_033127.4(SEC16B):c.1568G>A (p.Gly523Glu)	CRYZL2P-SEC16B, SEC16B (G524E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 746400	NM_033127.4(SEC16B):c.984A>G (p.Ser328=)	CRYZL2P-SEC16B, SEC16B	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 789952	NM_033127.4(SEC16B):c.679C>T (p.Arg227Cys)	CRYZL2P-SEC16B, SEC16B (R227C)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 732634	NM_033127.4(SEC16B):c.52G>A (p.Ala18Thr)	CRYZL2P-SEC16B, SEC16B (A18T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance

ClinVar