"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 191361	NM_006883.2(SHOX):c.-507G>C	SHOX	Single nucleotide variant (5 prime UTR variant)	Connective tissue disorder	GBenign
Select item 1702479	NM_006883.2(SHOX):c.-432-14_-432-7del	SHOX	Microsatellite (intron variant)	Connective tissue disorder	GLikely benign
Select item 596727	NM_000451.4(SHOX):c.-55C>T	SHOX	Single nucleotide variant (5 prime UTR variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 36776	NM_000451.4(SHOX):c.63C>T (p.Gly21=)	SHOX	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 1702478	NM_000451.4(SHOX):c.348del (p.Lys116fs)	LOC107652445, SHOX (K116fs)	Deletion (frameshift variant)	Connective tissue disorder	GLikely pathogenic
Select item 36775	NM_000451.4(SHOX):c.400C>A (p.Arg134=)	LOC107652445, SHOX	Single nucleotide variant (synonymous variant)	Connective tissue disorder +2 more	GBenign/Likely benign
Select item 198085	NM_000451.4(SHOX):c.870G>A (p.Leu290=)	SHOX	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign

ClinVar