"HPD-related disorder"[Disease/phenotype] AND "PreventionGenetics, par - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1576	NM_002150.3(HPD):c.1005C>G (p.Ile335Met)	HPD (I335M +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 307481	NM_002150.3(HPD):c.895C>T (p.Leu299=)	HPD	Single nucleotide variant (synonymous variant)	HPD-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2923607	NM_002150.3(HPD):c.633C>T (p.Ser211=)	HPD	Single nucleotide variant (synonymous variant)	Hawkinsinuria +2 more	GLikely benign
Select item 1010137	NM_002150.3(HPD):c.247G>A (p.Gly83Ser)	LOC126861662, HPD (G44S +1 more)	Single nucleotide variant (missense variant)	Hawkinsinuria +3 more	GUncertain significance
Select item 739986	NM_002150.3(HPD):c.156C>T (p.Thr52=)	HPD	Single nucleotide variant (synonymous variant)	Hawkinsinuria +2 more	GLikely benign
Select item 2930347	NM_002150.3(HPD):c.99G>A (p.Thr33=)	HPD	Single nucleotide variant (5 prime UTR variant +1 more)	Hawkinsinuria +2 more	GLikely benign
Select item 307489	NM_002150.3(HPD):c.94-6A>T	HPD	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 2932256	NM_002150.3(HPD):c.6G>A (p.Thr2=)	HPD	Single nucleotide variant (5 prime UTR variant +1 more)	Hawkinsinuria +2 more	GLikely benign

ClinVar