C3554594[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - 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)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 763198	NM_032888.4(COL27A1):c.1135A>T (p.Ile379Phe)	COL27A1 (I379F)	Single nucleotide variant (missense variant)	Steel syndrome +2 more	GLikely benign
Select item 1073679	NM_032888.4(COL27A1):c.1216C>T (p.Gln406Ter)	COL27A1 (Q406*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely 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 716538	NM_032888.4(COL27A1):c.2113C>T (p.Pro705Ser)	COL27A1 (P705S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 740193	NM_032888.4(COL27A1):c.3758G>A (p.Arg1253His)	COL27A1 (R1253H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 725753	NM_032888.4(COL27A1):c.4066G>C (p.Asp1356His)	COL27A1, LOC126860736 (D1356H)	Single nucleotide variant (missense variant)	Steel syndrome +1 more	GBenign

ClinVar