"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "CLSTN2" - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 782435	NM_022131.3(CLSTN2):c.233-8T>G	CLSTN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 786022	NM_022131.3(CLSTN2):c.372C>A (p.Ile124=)	CLSTN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 746910	NM_022131.3(CLSTN2):c.402C>T (p.His134=)	CLSTN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 771136	NM_022131.3(CLSTN2):c.917T>A (p.Ile306Asn)	CLSTN2 (I306N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 728113	NM_022131.3(CLSTN2):c.1098C>T (p.Val366=)	CLSTN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 792299	NM_022131.3(CLSTN2):c.1641T>C (p.Ile547=)	CLSTN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 720918	NM_022131.3(CLSTN2):c.2028C>T (p.Asp676=)	CLSTN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 778115	NM_022131.3(CLSTN2):c.2264G>A (p.Arg755His)	CLSTN2 (R755H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 788973	NM_022131.3(CLSTN2):c.2328G>A (p.Gly776=)	CLSTN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 725566	NM_022131.3(CLSTN2):c.2728G>A (p.Glu910Lys)	CLSTN2 (E910K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 711373	NM_022131.3(CLSTN2):c.2772GGA[3] (p.Glu928_Glu929del)	CLSTN2	Microsatellite (inframe_deletion)	not provided	GBenign