"Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg"[subm - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1967545	NM_001851.6(COL9A1):c.2617C>T (p.Arg873Ter)	COL9A1 (R873* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 196890	NM_001851.6(COL9A1):c.2159G>A (p.Arg720Gln)	COL9A1 (R720Q +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GConflicting classifications of pathogenicity
Select item 393272	NM_001851.6(COL9A1):c.1553A>T (p.Asp518Val)	COL9A1 (D518V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1462315	NM_001851.6(COL9A1):c.437T>G (p.Ile146Ser)	COL9A1 (I146S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1593762	NM_001851.6(COL9A1):c.158A>G (p.Asp53Gly)	COL9A1 (D53G)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3249620	NM_001851.6(COL9A1):c.115G>A (p.Gly39Ser)	COL9A1 (G39S)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3249327	NM_001851.6(COL9A1):c.23C>T (p.Pro8Leu)	COL9A1 (P8L)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance

ClinVar