C3278138[trait identifier] AND "GenomeConnect, ClinGen"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1810297	NM_001854.4(COL11A1):c.5029A>G (p.Arg1677Gly)	COL11A1 (R1561G +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 197911	NM_001854.4(COL11A1):c.3811G>T (p.Val1271Leu)	COL11A1 (V1283L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1300948	NM_001854.4(COL11A1):c.2644C>T (p.Arg882Cys)	COL11A1 (R766C +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1216773	NM_001854.4(COL11A1):c.2513G>A (p.Gly838Glu)	COL11A1 (G722E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 973080	NM_001854.4(COL11A1):c.281C>T (p.Thr94Ile)	COL11A1 (T94I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 282710	NM_080680.3(COL11A2):c.4854C>G (p.Asp1618Glu)	COL11A2 (D1618E +2 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity

ClinVar