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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3051974	NM_021958.4(HLX):c.499C>T (p.Pro167Ser)	HLX (P167S)	Single nucleotide variant (missense variant)	HLX-related disorder	GLikely benign
Select item 3034582	NM_021958.4(HLX):c.534T>C (p.Ile178=)	HLX	Single nucleotide variant (synonymous variant)	HLX-related disorder	GLikely benign
Select item 2322682	NM_021958.4(HLX):c.866A>C (p.Lys289Thr)	HLX (K289T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance

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