"PreventionGenetics, part of Exact Sciences"[submitter] AND "LOC107652 - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 256194	NM_000451.4(SHOX):c.278-15C>A	LOC107652445, SHOX	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3030748	NM_000451.4(SHOX):c.442G>T (p.Glu148Ter)	LOC107652445, SHOX (E148*)	Single nucleotide variant (nonsense)	SHOX-related disorder	GPathogenic
Select item 3061102	NM_000451.4(SHOX):c.461T>C (p.Leu154Pro)	LOC107652445, SHOX (L154P)	Single nucleotide variant (missense variant)	SHOX-related disorder	GLikely pathogenic

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