"Myriad Genetics, Inc."[submitter] AND "HGD"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1724707	NM_000187.4(HGD):c.824del (p.Tyr275fs)	HGD (Y275fs)	Deletion (frameshift variant)	Alkaptonuria	GLikely pathogenic
Select item 1724299	NM_000187.4(HGD):c.748del (p.Gln250fs)	HGD (Q250fs)	Deletion (frameshift variant)	Alkaptonuria	GLikely pathogenic
Select item 1723907	NM_000187.4(HGD):c.747C>A (p.Tyr249Ter)	HGD (Y249*)	Single nucleotide variant (nonsense)	Alkaptonuria	GLikely pathogenic
Select item 1723927	NM_000187.4(HGD):c.662T>A (p.Leu221Ter)	HGD (L221*)	Single nucleotide variant (nonsense)	Alkaptonuria	GLikely pathogenic
Select item 1725992	NM_000187.4(HGD):c.626_635del (p.Glu209fs)	HGD (E209fs)	Deletion (frameshift variant)	Alkaptonuria	GLikely pathogenic
Select item 1726491	NM_000187.4(HGD):c.302_303insTG (p.Glu101fs)	HGD (E101fs)	Insertion (frameshift variant)	Alkaptonuria	GLikely pathogenic
Select item 1726791	NM_000187.4(HGD):c.186T>A (p.Tyr62Ter)	HGD (Y62*)	Single nucleotide variant (nonsense)	Alkaptonuria	GLikely pathogenic
Select item 1724424	NM_000187.4(HGD):c.170del (p.Lys57fs)	HGD (K57fs)	Deletion (frameshift variant)	Alkaptonuria	GLikely pathogenic
Select item 1724524	NM_000187.4(HGD):c.148_149del (p.Thr50fs)	HGD (T50fs)	Deletion (frameshift variant)	Alkaptonuria	GLikely pathogenic

ClinVar