"Revvity Omics, Revvity"[submitter] AND "COL27A1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 967932	NM_032888.4(COL27A1):c.62+1del	COL27A1	Deletion (splice donor variant)	Steel syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2439329	NM_032888.4(COL27A1):c.358C>T (p.Gln120Ter)	COL27A1 (Q120*)	Single nucleotide variant (nonsense)	Steel syndrome	GLikely pathogenic
Select item 143245	NM_032888.4(COL27A1):c.2089G>C (p.Gly697Arg)	COL27A1 (G697R)	Single nucleotide variant (missense variant)	Steel syndrome +1 more	GPathogenic
Select item 1322126	NM_032888.4(COL27A1):c.3294+1G>C	COL27A1	Single nucleotide variant (splice donor variant)	Steel syndrome	GPathogenic
Select item 2440280	NM_032888.4(COL27A1):c.3754G>T (p.Gly1252Cys)	COL27A1 (G1252C)	Single nucleotide variant (missense variant)	Steel syndrome	GUncertain significance
Select item 2439337	NM_032888.4(COL27A1):c.4357dup (p.Ala1453fs)	COL27A1 (A1453fs)	Duplication (frameshift variant)	Steel syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2440281	NM_032888.4(COL27A1):c.4441G>A (p.Gly1481Ser)	COL27A1 (G1481S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

ClinVar