Related gene-specific medical variations for Gene (Select 84100) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246909	NC_000003.11:g.(?_97498983)_(97499084_?)dup	ARL6	Duplication	Retinitis pigmentosa 55 +1 more	GLikely pathogenic
Select item 3246908	NC_000003.11:g.(?_97486952)_(97487094_?)del	ARL6	Deletion	Retinitis pigmentosa 55 +1 more	GPathogenic
Select item 2584549	NM_001278293.3(ARL6):c.254+1371G>A	ARL6	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 3 +1 more	GUncertain significance
Select item 2498296	NM_001278293.3(ARL6):c.302G>T (p.Arg101Ile)	ARL6 (R101I)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GPathogenic
Select item 1803838	NM_001278293.3(ARL6):c.-27-3C>T	ARL6	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 3	GUncertain significance
Select item 813156	NM_001278293.3(ARL6):c.528G>T (p.Trp176Cys)	ARL6 (W176C)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome	GPathogenic
Select item 809517	NM_001278293.3(ARL6):c.249T>A (p.Tyr83Ter)	ARL6 (Y83*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 262016	NM_001278293.3(ARL6):c.349+36G>A	ARL6	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 262015	NM_001278293.3(ARL6):c.255-49A>G	ARL6	Single nucleotide variant (intron variant)	not specified	GLikely benign

ClinVar