ClinVar for OMIM (Select 165240) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 446157	NM_016169.4(SUFU):c.527A>G (p.His176Arg)	SUFU (H176R)	Single nucleotide variant (missense variant)	Joubert syndrome 32	GPathogenic
Select item 446156	NM_016169.4(SUFU):c.1217T>C (p.Ile406Thr)	SUFU (I406T)	Single nucleotide variant (missense variant)	Medulloblastoma +1 more	GUncertain significance
Select item 225651	NM_000523.4(HOXD13):c.32G>C (p.Gly11Ala)	HOXD13 (G11A)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 212765	NM_016008.4(DYNC2LI1):c.349C>G (p.Leu117Val)	DYNC2LI1 (L117V)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 208813	NM_001329943.3(KIAA0586):c.1656G>A (p.Gln552=)	KIAA0586	Single nucleotide variant (synonymous variant)	Joubert syndrome 23 +2 more	GPathogenic
Select item 37056	NM_015631.6(TCTN3):c.1222C>T (p.Gln408Ter)	TCTN3 (Q260* +1 more)	Single nucleotide variant (nonsense)	Orofacial-digital syndrome IV	GPathogenic
Select item 30895	NM_198525.3(KIF7):c.2896_2897del (p.Ala966fs)	KIF7 (A966fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic

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