"Blueprint Genetics"[submitter] AND "AGBL5"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 866311	NM_021831.6(AGBL5):c.332G>A (p.Arg111His)	AGBL5 (R111H)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +1 more	GUncertain significance
Select item 866301	NM_021831.6(AGBL5):c.796C>G (p.Leu266Val)	AGBL5 (L266V)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 866300	NM_021831.6(AGBL5):c.956A>G (p.Asp319Gly)	AGBL5 (D319G)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 866072	NM_021831.6(AGBL5):c.1114del (p.Gln372fs)	AGBL5 (Q372fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 855712	NM_021831.6(AGBL5):c.1754G>A (p.Ser585Asn)	AGBL5 (S585N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 867071	NM_021831.6(AGBL5):c.1771G>A (p.Ala591Thr)	AGBL5 (A591T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 855713	NM_021831.6(AGBL5):c.2108G>A (p.Arg703Lys)	AGBL5 (R703K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 867072	NM_021831.6(AGBL5):c.2141C>T (p.Pro714Leu)	AGBL5 (P714L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance

ClinVar