ClinVar for MedGen (Select 934726) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1710121	NM_021831.6(AGBL5):c.1465del (p.Arg489fs)	AGBL5 (R489fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 75	GLikely pathogenic
Select item 1213944	NM_021831.6(AGBL5):c.938G>A (p.Arg313His)	AGBL5 (R313H)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 75 +1 more	GUncertain significance
Select item 1184585	NM_021831.6(AGBL5):c.323C>G (p.Pro108Arg)	AGBL5 (P108R)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 75	GLikely pathogenic
Select item 1007408	NM_021831.6(AGBL5):c.2602C>A (p.Gln868Lys)	AGBL5 (Q868K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 916722	NM_021831.6(AGBL5):c.313_319del (p.Gly105fs)	AGBL5 (G105fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 75	GLikely pathogenic
Select item 789558	NM_021831.6(AGBL5):c.2375G>A (p.Arg792Gln)	AGBL5 (R792Q)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 75 +1 more	GBenign/Likely benign
Select item 771695	NM_021831.6(AGBL5):c.2046T>A (p.Ser682=)	AGBL5	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 75 +1 more	GBenign
Select item 242933	NM_021831.6(AGBL5):c.826C>T (p.Arg276Trp)	AGBL5 (R276W)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 75 +1 more	GConflicting classifications of pathogenicity
Select item 242932	NM_021831.6(AGBL5):c.883G>A (p.Asp295Asn)	AGBL5 (D295N)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic