C1840379[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 506012	NM_153704.6(TMEM67):c.514C>T (p.Arg172Ter)	TMEM67 (R172* +1 more)	Single nucleotide variant (nonsense +1 more)	Familial aplasia of the vermis +11 more	GPathogenic/Likely pathogenic
Select item 217725	NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys)	TMEM67 (R360C +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 3 +23 more	GConflicting classifications of pathogenicity
Select item 1383	NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg)	TMEM67 (C615R +1 more)	Single nucleotide variant (missense variant +1 more)	TMEM67-related disorder +26 more	GPathogenic/Likely pathogenic
Select item 523562	NM_153704.6(TMEM67):c.2418_2423dup (p.805_806MN[3])	TMEM67	Duplication (inframe_insertion +1 more)	Nystagmus +3 more	GLikely pathogenic
Select item 56739	NM_025114.4(CEP290):c.5493del (p.Ala1832fs)	CEP290 (A1832fs)	Deletion (frameshift variant)	CEP290-related disorder +14 more	GPathogenic
Select item 374210	NM_025114.4(CEP290):c.3104-2A>G	CEP290	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome 14 +8 more	GPathogenic/Likely pathogenic

ClinVar