C2020284[trait identifier] AND "3billion"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 17361	NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser)	COL2A1 (G1128S +1 more)	Single nucleotide variant (missense variant)	Namaqualand hip dysplasia +7 more	GPathogenic/Likely pathogenic
Select item 286275	NM_001844.5(COL2A1):c.3311G>A (p.Gly1104Glu)	COL2A1 (G1104E +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 17366	NM_001844.5(COL2A1):c.2965C>T (p.Arg989Cys)	COL2A1 (R920C +1 more)	Single nucleotide variant (missense variant)	Spondyloperipheral dysplasia +14 more	GPathogenic/Likely pathogenic
Select item 1687304	NM_001844.5(COL2A1):c.2369_2387del (p.Pro790fs)	COL2A1 (P721fs +1 more)	Deletion (frameshift variant)	Stickler syndrome type 1	GLikely pathogenic
Select item 547258	NM_001844.5(COL2A1):c.2381del (p.Pro794fs)	COL2A1 (P794fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 17383	NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys)	COL2A1 (R496C +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +5 more	GPathogenic/Likely pathogenic
Select item 1705352	NM_001844.5(COL2A1):c.610-2A>T	COL2A1	Single nucleotide variant (splice acceptor variant)	Stickler syndrome type 1	GLikely pathogenic
Select item 2572519	NM_001844.5(COL2A1):c.575del (p.Gly192fs)	COL2A1 (G123fs +1 more)	Deletion (frameshift variant)	Stickler syndrome type 1	GLikely pathogenic

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