"Invitae"[submitter] AND "SMIM27"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1904086	NM_001387564.1(SMIM27):c.-18T>A	SMIM27, TOPORS	Single nucleotide variant (intron variant +2 more)	not provided	GLikely benign
Select item 2005006	NM_001387564.1(SMIM27):c.-11G>A	SMIM27, TOPORS	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1151217	NM_001387564.1(SMIM27):c.-9C>T	SMIM27, TOPORS	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2793958	NM_005802.5(TOPORS):c.3+2T>C	SMIM27, TOPORS	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1020362	NM_005802.5(TOPORS):c.3+1G>A	SMIM27, TOPORS	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2994492	NM_001387564.1(SMIM27):c.1A>G (p.Met1Val)	SMIM27, TOPORS (M1T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 858769	NM_001387564.1(SMIM27):c.2T>C (p.Met1Thr)	SMIM27, TOPORS (M1V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance

ClinVar