C0265253[trait identifier] AND "Department of Otolaryngology

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1064932	NM_001852.4(COL9A2):c.1510C>T (p.Arg504Ter)	COL9A2 (R504*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 451381	NM_001378454.1(ALMS1):c.6772del (p.Thr2258fs)	ALMS1 (T2259fs +1 more)	Deletion (frameshift variant)	Stickler syndrome +2 more	GPathogenic/Likely pathogenic
Select item 631847	NM_000091.5(COL4A3):c.3440C>T (p.Ser1147Phe)	COL4A3, MFF-DT (S1147F)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1058204	NM_022124.6(CDH23):c.5989G>A (p.Val1997Met)	CDH23 (V1997M)	Single nucleotide variant (missense variant)	Stickler syndrome +1 more	GUncertain significance
Select item 1064931	NM_001844.5(COL2A1):c.1364C>T (p.Thr455Met)	COL2A1 (T386M +1 more)	Single nucleotide variant (missense variant)	Stickler syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1064970	NM_001384474.1(LOXHD1):c.2308G>A (p.Val770Ile)	LOXHD1 (V770I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity

ClinVar