"PreventionGenetics, part of Exact Sciences"[submitter] AND "TMEM165"[ - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 513171	NM_018475.5(TMEM165):c.15T>C (p.Ala5=)	LOC129992613, TMEM165	Single nucleotide variant (synonymous variant +1 more)	TMEM165-congenital disorder of glycosylation +2 more	GLikely benign
Select item 1612289	NM_018475.5(TMEM165):c.96G>T (p.Arg32=)	TMEM165, LOC129992613	Single nucleotide variant (synonymous variant +1 more)	TMEM165-congenital disorder of glycosylation +2 more	GBenign/Likely benign
Select item 3036781	NM_018475.5(TMEM165):c.433+9G>A	TMEM165	Single nucleotide variant (intron variant)	TMEM165-related disorder	GLikely benign
Select item 3052243	NM_018475.5(TMEM165):c.489A>C (p.Ser163=)	TMEM165	Single nucleotide variant (synonymous variant +1 more)	TMEM165-related disorder	GLikely benign
Select item 702600	NM_018475.5(TMEM165):c.921T>G (p.Val307=)	TMEM165	Single nucleotide variant (synonymous variant +1 more)	TMEM165-related disorder +1 more	GBenign/Likely benign
Select item 349069	NM_018475.5(TMEM165):c.2_3del	TMEM165	Deletion (3 prime UTR variant +1 more)	TMEM165-related disorder +3 more	GBenign

ClinVar