"Clinical Genetics, Academic Medical Center"[submitter] AND "TMEM67"[g - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 262741	NM_153704.6(TMEM67):c.120T>C (p.Ser40=)	TMEM67	Single nucleotide variant (5 prime UTR variant +2 more)	Meckel-Gruber syndrome +5 more	GConflicting classifications of pathogenicity
Select item 286625	NM_153704.6(TMEM67):c.369C>T (p.Ala123=)	TMEM67	Single nucleotide variant (5 prime UTR variant +2 more)	Meckel-Gruber syndrome +5 more	GConflicting classifications of pathogenicity
Select item 1376	NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter)	TMEM67 (R208* +1 more)	Single nucleotide variant (nonsense +1 more)	Joubert syndrome and related disorders +11 more	GPathogenic
Select item 1373	NM_153704.6(TMEM67):c.651+2T>G	TMEM67	Single nucleotide variant (splice donor variant)	Joubert syndrome and related disorders +4 more	GConflicting classifications of pathogenicity
Select item 126307	NM_153704.6(TMEM67):c.781G>A (p.Asp261Asn)	TMEM67 (D180N +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 3 +9 more	GBenign/Likely benign
Select item 262756	NM_153704.6(TMEM67):c.869+9A>G	TMEM67	Single nucleotide variant (intron variant)	Nephronophthisis 11 +5 more	GConflicting classifications of pathogenicity

ClinVar