ClinVar for MedGen (Select 1848300) - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664495	NM_004147.4(DRG1):c.418C>T (p.Arg140Ter)	DRG1 (R140*)	Single nucleotide variant (nonsense)	Tan-Almurshedi syndrome	GLikely pathogenic
Select item 2664494	NM_004147.4(DRG1):c.787A>T (p.Lys263Ter)	DRG1 (K263*)	Single nucleotide variant (nonsense)	Tan-Almurshedi syndrome	GLikely pathogenic
Select item 2664493	NM_004147.4(DRG1):c.742_743inv (p.Asn248Phe)	DRG1 (N248F)	Inversion (missense variant)	Tan-Almurshedi syndrome	GLikely pathogenic
Select item 2664492	NM_004147.4(DRG1):c.160G>T (p.Gly54Ter)	DRG1 (G54*)	Single nucleotide variant (nonsense)	Tan-Almurshedi syndrome	GLikely pathogenic

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