ClinVar for MedGen (Select 1658130) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338170	NM_012106.4(ARL2BP):c.22_23del (p.Ser8fs)	ARL2BP (S8fs)	Microsatellite (frameshift variant)	Retinitis pigmentosa with or without situs inversus	GPathogenic
Select item 3338167	NM_012106.4(ARL2BP):c.294-1G>C	ARL2BP	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa with or without situs inversus	GPathogenic
Select item 2577503	NM_012106.4(ARL2BP):c.33_36del (p.Phe13fs)	ARL2BP (F13fs)	Deletion (frameshift variant)	Retinitis pigmentosa	GPathogenic
Select item 1064633	NM_012106.4(ARL2BP):c.293+5G>A	ARL2BP	Single nucleotide variant (intron variant)	not provided +1 more	GLikely pathogenic
Select item 559501	NM_012106.4(ARL2BP):c.207+1G>T	ARL2BP	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa with or without situs inversus +1 more	GPathogenic
Select item 437946	NM_012106.4(ARL2BP):c.207+1G>A	ARL2BP	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 65474	NM_012106.4(ARL2BP):c.134T>G (p.Met45Arg)	ARL2BP (M45R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 65473	NM_012106.4(ARL2BP):c.101-1G>C	ARL2BP	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa with or without situs inversus +2 more	GPathogenic

ClinVar