C1837713[trait identifier] AND "SIB Swiss Institute of Bioinformatics" - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 95756	NM_001134831.2(AHI1):c.3368C>T (p.Ser1123Phe)	AHI1 (S1123F)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 2015	NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln)	AHI1 (R723Q)	Single nucleotide variant (missense variant)	Joubert syndrome 3 +2 more	GConflicting classifications of pathogenicity