ClinVar (all) for Orgtrack (Select 507651) - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1264350	NM_000187.4(HGD):c.587C>T (p.Thr196Ile)	HGD (T196I)	Single nucleotide variant (missense variant)	Alkaptonuria	GLikely pathogenic
Select item 1264349	NM_000187.4(HGD):c.1084G>A (p.Gly362Arg)	HGD (G362R)	Single nucleotide variant (missense variant)	Alkaptonuria	GLikely pathogenic
Select item 1264348	NM_000187.4(HGD):c.16-2063A>C	HGD	Single nucleotide variant (intron variant)	Alkaptonuria	GLikely pathogenic
Select item 1264347	NM_000187.4(HGD):c.1031del (p.Gly344fs)	HGD (G344fs)	Deletion (frameshift variant)	Alkaptonuria	GPathogenic

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