"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 126305	NM_153704.6(TMEM67):c.406+1361C>T	TMEM67 (P36L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 675894	NM_153704.6(TMEM67):c.406+1379G>A	TMEM67 (C42Y)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1376	NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter)	TMEM67 (R208* +1 more)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 14 +11 more	GPathogenic
Select item 1387	NM_153704.6(TMEM67):c.755T>C (p.Met252Thr)	TMEM67 (M252T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +9 more	GPathogenic/Likely pathogenic
Select item 126307	NM_153704.6(TMEM67):c.781G>A (p.Asp261Asn)	TMEM67 (D180N +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +9 more	GBenign/Likely benign
Select item 96528	NM_153704.6(TMEM67):c.1066-3C>T	TMEM67	Single nucleotide variant (intron variant)	COACH syndrome 1 +7 more	GBenign
Select item 661970	NM_153704.6(TMEM67):c.1379G>C (p.Arg460Thr)	TMEM67 (R379T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +9 more	GUncertain significance
Select item 126304	NM_153704.6(TMEM67):c.2397T>C (p.Asp799=)	TMEM67	Single nucleotide variant (synonymous variant +1 more)	Meckel-Gruber syndrome +10 more	GBenign/Likely benign

ClinVar