Related gene-specific medical variations for Gene (Select 151188) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3129586	NM_152522.7(ARL6IP6):c.332T>C (p.Ile111Thr)	ARL6IP6, LOC129934936 (I111T)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2548959	NM_152522.7(ARL6IP6):c.334C>A (p.Leu112Ile)	ARL6IP6, LOC129934936 (L112I)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2543565	NM_152522.7(ARL6IP6):c.209G>C (p.Arg70Pro)	ARL6IP6, LOC129934935 (R70P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2500155	NM_152522.7(ARL6IP6):c.373C>T (p.Leu125Phe)	ARL6IP6, LOC129934936 (L125F)	Single nucleotide variant (5 prime UTR variant +2 more)	Bardet-Biedl syndrome	GLikely pathogenic
Select item 2478192	NM_152522.7(ARL6IP6):c.361C>A (p.Leu121Ile)	ARL6IP6, LOC129934936 (L121I)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 994393	NM_152522.7(ARL6IP6):c.341C>T (p.Ser114Leu)	ARL6IP6, LOC129934936 (S114L)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance

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