"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 198360	NM_001854.4(COL11A1):c.5198G>A (p.Arg1733His)	COL11A1, LOC126805814 (R1745H +3 more)	Single nucleotide variant (missense variant +1 more)	COL11A1-related condition +5 more	GConflicting classifications of pathogenicity
Select item 291498	NM_001854.4(COL11A1):c.4627A>C (p.Ile1543Leu)	COL11A1 (I1555L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 198301	NM_001854.4(COL11A1):c.4468A>G (p.Ile1490Val)	COL11A1 (I1502V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 197989	NM_001854.4(COL11A1):c.4185C>T (p.Val1395=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	Connective tissue disorder +4 more	GBenign/Likely benign
Select item 166921	NM_001854.4(COL11A1):c.4140+10A>T	COL11A1	Single nucleotide variant (intron variant)	Connective tissue disorder +4 more	GBenign/Likely benign
Select item 290834	NM_001854.4(COL11A1):c.3979-3T>C	COL11A1	Single nucleotide variant (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 197911	NM_001854.4(COL11A1):c.3811G>T (p.Val1271Leu)	COL11A1 (V1283L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 289661	NM_001854.4(COL11A1):c.3639G>A (p.Gly1213=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 291516	NM_001854.4(COL11A1):c.3447C>T (p.Pro1149=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 258453	NM_001854.4(COL11A1):c.2901A>C (p.Gly967=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 196779	NM_001854.4(COL11A1):c.2578T>A (p.Phe860Ile)	COL11A1 (F872I +3 more)	Single nucleotide variant (missense variant +1 more)	Connective tissue disorder +4 more	GBenign
Select item 1205360	NM_001854.4(COL11A1):c.2421A>T (p.Arg807Ser)	COL11A1 (R691S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 721212	NM_001854.4(COL11A1):c.2340+9_2340+13del	COL11A1	Deletion (intron variant)	COL11A1-related condition +1 more	GBenign/Likely benign
Select item 166924	NM_001854.4(COL11A1):c.1792-39ATG[11]	COL11A1	Microsatellite (intron variant)	Stickler Syndrome, Dominant +4 more	GConflicting classifications of pathogenicity
Select item 392525	NM_001854.4(COL11A1):c.1201T>A (p.Phe401Ile)	COL11A1 (F401I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 198777	NM_001854.4(COL11A1):c.1021G>C (p.Glu341Gln)	COL11A1 (E353Q +2 more)	Single nucleotide variant (missense variant +2 more)	COL11A1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 1210009	NM_001854.4(COL11A1):c.990+8G>A	COL11A1	Single nucleotide variant (intron variant)	COL11A1-related condition +1 more	GLikely benign
Select item 93969	NM_001854.4(COL11A1):c.660T>C (p.Ile220=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 291545	NM_001854.4(COL11A1):c.652-7_652-6dup	COL11A1	Duplication (intron variant)	Marshall syndrome +3 more	GConflicting classifications of pathogenicity
Select item 218828	NM_001854.4(COL11A1):c.652-6del	COL11A1	Deletion (intron variant)	not provided +6 more	GBenign
Select item 197735	NM_001854.4(COL11A1):c.652-7_652-6del	COL11A1	Deletion (intron variant)	Stickler Syndrome, Dominant +5 more	GBenign
Select item 1164537	NM_001854.4(COL11A1):c.612G>T (p.Thr204=)	COL11A1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1297617	NM_001854.4(COL11A1):c.484G>A (p.Gly162Arg)	COL11A1 (G162R)	Single nucleotide variant (missense variant +1 more)	COL11A1-related condition	GUncertain significance
Select item 291550	NM_001854.4(COL11A1):c.130G>A (p.Ala44Thr)	COL11A1 (A44T)	Single nucleotide variant (missense variant +1 more)	Stickler syndrome type 2 +7 more	GBenign/Likely benign

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Items: 24