ClinVar for MedGen (Select 1854813) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3258081	NM_031934.6(RAB34):c.457_459del (p.Glu153del)	RAB34 (E131del +3 more)	Deletion (inframe_deletion +1 more)	Orofaciodigital syndrome 20	GUncertain significance
Select item 2921273	NM_031934.6(RAB34):c.632G>A (p.Arg211His)	RAB34 (R189H +3 more)	Single nucleotide variant (missense variant +2 more)	Orofaciodigital syndrome 20	GPathogenic
Select item 2921270	NM_031934.6(RAB34):c.652G>A (p.Glu218Lys)	RAB34 (E275K +3 more)	Single nucleotide variant (missense variant +2 more)	Orofaciodigital syndrome 20	GPathogenic
Select item 2921269	NM_031934.6(RAB34):c.605G>T (p.Gly202Val)	RAB34 (G202V +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2506967	NM_031934.6(RAB34):c.691C>T (p.Arg231Ter)	RAB34 (R209* +4 more)	Single nucleotide variant (nonsense +2 more)	Jeune thoracic dystrophy	GLikely pathogenic
Select item 2506966	NM_031934.6(RAB34):c.254T>C (p.Ile85Thr)	RAB34 (I142T +3 more)	Single nucleotide variant (missense variant +1 more)	Jeune thoracic dystrophy	GLikely pathogenic

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