"PreventionGenetics, part of Exact Sciences"[submitter] AND "TMEM126B" - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2957668	NM_018480.7(TMEM126B):c.82-5del	TMEM126B	Deletion (intron variant)	TMEM126B-related disorder +1 more	GBenign/Likely benign
Select item 1203741	NM_018480.7(TMEM126B):c.125C>T (p.Ser42Phe)	TMEM126B (S12F +2 more)	Single nucleotide variant (missense variant +2 more)	TMEM126B-related disorder +1 more	GLikely benign
Select item 3052900	NM_018480.7(TMEM126B):c.204-5A>G	TMEM126B	Single nucleotide variant (intron variant)	TMEM126B-related disorder	GLikely benign
Select item 2630644	NM_018480.7(TMEM126B):c.290dup (p.Lys98fs)	TMEM126B (K52fs +4 more)	Duplication (frameshift variant +1 more)	TMEM126B-related disorder	GLikely pathogenic
Select item 1087417	NM_018480.7(TMEM126B):c.498C>T (p.Arg166=)	TMEM126B	Single nucleotide variant (synonymous variant +1 more)	TMEM126B-related disorder +1 more	GLikely benign
Select item 3054176	NM_018480.7(TMEM126B):c.648T>C (p.Tyr216=)	TMEM126B	Single nucleotide variant (synonymous variant +1 more)	TMEM126B-related disorder	GLikely benign

ClinVar