"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "HGD"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3168	NM_000187.4(HGD):c.481G>A (p.Gly161Arg)	HGD (G161R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 370939	NM_000187.4(HGD):c.158G>A (p.Arg53Gln)	HGD (R53Q)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 493367	NM_000187.4(HGD):c.94C>T (p.Pro32Ser)	HGD (P32S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic

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