"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[s - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 523552	NM_001854.4(COL11A1):c.4048_4065del (p.Ser1350_Pro1355del)	COL11A1	Deletion (inframe_deletion +1 more)	Myopia +7 more	GLikely pathogenic
Select item 930586	NM_001854.4(COL11A1):c.4031C>A (p.Pro1344Gln)	COL11A1 (P1344Q +3 more)	Single nucleotide variant (missense variant +1 more)	Marshall syndrome	GUncertain significance
Select item 932033	NM_001854.4(COL11A1):c.3817-10C>A	COL11A1	Single nucleotide variant (intron variant)	Marshall syndrome	GUncertain significance
Select item 930420	NM_080629.2(COL11A1):c.2796_2813delTCAAGGACCTCAGGGTCC	COL11A1	Deletion	Marshall syndrome +1 more	GPathogenic
Select item 931238	NM_001854.4(COL11A1):c.2590A>C (p.Asn864His)	COL11A1 (N876H +3 more)	Single nucleotide variant (missense variant +1 more)	Marshall syndrome	GUncertain significance
Select item 931132	NM_001854.4(COL11A1):c.1999-10T>C	COL11A1	Single nucleotide variant (intron variant)	Marshall syndrome	GUncertain significance
Select item 931347	NM_001854.4(COL11A1):c.385G>A (p.Val129Ile)	COL11A1 (V129I)	Single nucleotide variant (missense variant +1 more)	Marshall syndrome	GUncertain significance

ClinVar