"Illumina Laboratory Services, Illumina"[submitter] AND "COL11A2"[gene - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 356372	NM_080680.3(COL11A2):c.*925G>A	COL11A2	Single nucleotide variant (3 prime UTR variant)	Stickler Syndrome, Dominant +3 more	GLikely benign
Select item 356373	NM_080680.3(COL11A2):c.*822C>G	COL11A2	Single nucleotide variant (3 prime UTR variant)	Stickler Syndrome, Dominant +3 more	GConflicting classifications of pathogenicity
Select item 904927	NM_080680.3(COL11A2):c.*819C>T	COL11A2	Single nucleotide variant (3 prime UTR variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +2 more	GUncertain significance
Select item 904928	NM_080680.3(COL11A2):c.*788A>C	COL11A2	Single nucleotide variant (3 prime UTR variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +2 more	GUncertain significance
Select item 356374	NM_080680.3(COL11A2):c.*706G>T	COL11A2	Single nucleotide variant (3 prime UTR variant)	Stickler Syndrome, Dominant +3 more	GConflicting classifications of pathogenicity
Select item 356375	NM_080680.3(COL11A2):c.*544C>G	COL11A2	Single nucleotide variant (3 prime UTR variant)	Stickler Syndrome, Dominant +3 more	GUncertain significance
Select item 356376	NM_080680.3(COL11A2):c.*536C>T	COL11A2	Single nucleotide variant (3 prime UTR variant)	Otospondylomegaepiphyseal dysplasia, autosomal recessive +3 more	GUncertain significance
Select item 904202	NM_080680.3(COL11A2):c.*485G>C	COL11A2	Single nucleotide variant (3 prime UTR variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +2 more	GUncertain significance
Select item 356377	NM_080680.3(COL11A2):c.*439C>A	COL11A2	Single nucleotide variant (3 prime UTR variant)	Stickler Syndrome, Dominant +3 more	GUncertain significance
Select item 904203	NM_080680.3(COL11A2):c.*429G>T	COL11A2	Single nucleotide variant (3 prime UTR variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +2 more	GUncertain significance
Select item 904983	NM_080680.3(COL11A2):c.*393A>G	COL11A2	Single nucleotide variant (3 prime UTR variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +2 more	GUncertain significance
Select item 356378	NM_080680.3(COL11A2):c.*248C>A	COL11A2	Single nucleotide variant (3 prime UTR variant)	Otospondylomegaepiphyseal dysplasia, autosomal recessive +3 more	GUncertain significance
Select item 356379	NM_080680.3(COL11A2):c.*128C>G	COL11A2	Single nucleotide variant (3 prime UTR variant)	Stickler Syndrome, Dominant +3 more	GLikely benign
Select item 356380	NM_080680.3(COL11A2):c.*119G>A	COL11A2	Single nucleotide variant (3 prime UTR variant)	Stickler Syndrome, Dominant +3 more	GLikely benign
Select item 178320	NM_080680.3(COL11A2):c.*4C>T	COL11A2	Single nucleotide variant (3 prime UTR variant)	Stickler Syndrome, Dominant +6 more	GBenign/Likely benign
Select item 46568	NM_080680.3(COL11A2):c.5165C>T (p.Pro1722Leu)	COL11A2 (P1722L +2 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +6 more	GBenign/Likely benign
Select item 504742	NM_080680.3(COL11A2):c.5088G>A (p.Thr1696=)	COL11A2	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 505075	NM_080680.3(COL11A2):c.5084G>A (p.Arg1695Gln)	COL11A2 (R1695Q +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 226539	NM_080680.3(COL11A2):c.5071-5T>G	COL11A2	Single nucleotide variant (intron variant)	Connective tissue disorder +6 more	GBenign/Likely benign
Select item 262312	NM_080680.3(COL11A2):c.5071-7C>G	COL11A2	Single nucleotide variant (intron variant)	COL11A2-related condition +4 more	GConflicting classifications of pathogenicity
Select item 178321	NM_080680.3(COL11A2):c.5000G>A (p.Arg1667His)	COL11A2 (R1667H +2 more)	Single nucleotide variant (missense variant)	Stickler Syndrome, Dominant +7 more	GConflicting classifications of pathogenicity
Select item 906636	NM_080680.3(COL11A2):c.4983C>T (p.Asp1661=)	COL11A2	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 198356	NM_080680.3(COL11A2):c.4959C>T (p.Tyr1653=)	COL11A2	Single nucleotide variant (synonymous variant)	Fibrochondrogenesis 2 +3 more	GConflicting classifications of pathogenicity
Select item 356381	NM_080680.3(COL11A2):c.4951G>A (p.Val1651Ile)	COL11A2 (V1651I +2 more)	Single nucleotide variant (missense variant)	Stickler Syndrome, Dominant +4 more	GConflicting classifications of pathogenicity
Select item 178663	NM_080680.3(COL11A2):c.4884G>C (p.Glu1628Asp)	COL11A2 (E1628D +2 more)	Single nucleotide variant (missense variant)	not specified +7 more	GBenign/Likely benign
Select item 356382	NM_080680.3(COL11A2):c.4872C>T (p.Tyr1624=)	COL11A2	Single nucleotide variant (synonymous variant)	Nonsyndromic Hearing Loss, Dominant +6 more	GLikely benign
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
Select item 178604	NM_080680.3(COL11A2):c.4799G>A (p.Arg1600Gln)	COL11A2 (R1600Q +2 more)	Single nucleotide variant (missense variant)	Stickler Syndrome, Dominant +8 more	GBenign/Likely benign
Select item 905130	NM_080680.3(COL11A2):c.4777G>A (p.Gly1593Ser)	COL11A2 (G1593S +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 227272	NM_080680.3(COL11A2):c.4751-9A>G	COL11A2	Single nucleotide variant (intron variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 906713	NM_080680.3(COL11A2):c.4751-12C>G	COL11A2	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 906714	NM_080680.3(COL11A2):c.4706G>A (p.Arg1569His)	COL11A2 (R1462H +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 162976	NM_080680.3(COL11A2):c.4683A>G (p.Thr1561=)	COL11A2	Single nucleotide variant (synonymous variant)	Stickler Syndrome, Dominant +5 more	GConflicting classifications of pathogenicity
Select item 286504	NM_080680.3(COL11A2):c.4675C>T (p.Arg1559Trp)	COL11A2 (R1559W +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 198337	NM_080680.3(COL11A2):c.4652G>A (p.Arg1551Gln)	COL11A2 (R1551Q +2 more)	Single nucleotide variant (missense variant)	Fibrochondrogenesis 2 +5 more	GConflicting classifications of pathogenicity
Select item 356383	NM_080680.3(COL11A2):c.4651C>T (p.Arg1551Trp)	COL11A2 (R1551W +2 more)	Single nucleotide variant (missense variant)	Stickler Syndrome, Dominant +6 more	GConflicting classifications of pathogenicity
Select item 356384	NM_080680.3(COL11A2):c.4586C>T (p.Pro1529Leu)	COL11A2 (P1529L +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 162977	NM_080680.3(COL11A2):c.4521G>A (p.Gln1507=)	COL11A2	Single nucleotide variant (synonymous variant)	Connective tissue disorder +6 more	GBenign/Likely benign
Select item 178322	NM_080680.3(COL11A2):c.4458T>A (p.Gly1486=)	COL11A2	Single nucleotide variant (synonymous variant)	Stickler Syndrome, Dominant +6 more	GBenign/Likely benign
Select item 226538	NM_080680.3(COL11A2):c.4392+12C>T	COL11A2	Single nucleotide variant (intron variant)	Stickler Syndrome, Dominant +5 more	GBenign/Likely benign
Select item 226537	NM_080680.3(COL11A2):c.4383C>T (p.Pro1461=)	COL11A2	Single nucleotide variant (synonymous variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 356385	NM_080680.3(COL11A2):c.4265C>T (p.Pro1422Leu)	COL11A2 (P1422L +2 more)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 904453	NM_080680.3(COL11A2):c.4231-4C>G	COL11A2	Single nucleotide variant (intron variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 904454	NM_080680.3(COL11A2):c.4228A>G (p.Lys1410Glu)	COL11A2 (K1303E +2 more)	Single nucleotide variant (missense variant)	Otospondylomegaepiphyseal dysplasia, autosomal recessive +3 more	GConflicting classifications of pathogenicity
Select item 356386	NM_080680.3(COL11A2):c.4080G>A (p.Gly1360=)	COL11A2	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 227271	NM_080680.3(COL11A2):c.4041G>A (p.Pro1347=)	COL11A2	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 906835	NM_080680.3(COL11A2):c.3959G>T (p.Arg1320Leu)	COL11A2 (R1213L +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 46567	NM_080680.3(COL11A2):c.3946C>A (p.Pro1316Thr)	COL11A2 (P1316T +2 more)	Single nucleotide variant (missense variant)	Otospondylomegaepiphyseal dysplasia, autosomal recessive +5 more	GBenign
Select item 178812	NM_080680.3(COL11A2):c.3932A>G (p.Asn1311Ser)	COL11A2 (N1311S +2 more)	Single nucleotide variant (missense variant)	COL11A2-related condition +6 more	GConflicting classifications of pathogenicity
Select item 904520	NM_080680.3(COL11A2):c.3907-5C>T	COL11A2	Single nucleotide variant (intron variant)	Otospondylomegaepiphyseal dysplasia, autosomal recessive +2 more	GUncertain significance
Select item 356387	NM_080680.3(COL11A2):c.3883G>A (p.Glu1295Lys)	COL11A2 (E1295K +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 53 +6 more	GConflicting classifications of pathogenicity
Select item 178323	NM_080680.3(COL11A2):c.3860A>G (p.Asp1287Gly)	COL11A2 (D1287G +2 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +5 more	GBenign/Likely benign
Select item 356388	NM_080680.3(COL11A2):c.3850C>T (p.Arg1284Trp)	COL11A2 (R1284W +2 more)	Single nucleotide variant (missense variant)	Stickler Syndrome, Dominant +4 more	GConflicting classifications of pathogenicity
Select item 905304	NM_080680.3(COL11A2):c.3794A>G (p.Asn1265Ser)	COL11A2 (N1179S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 906906	NM_080680.3(COL11A2):c.3778G>C (p.Asp1260His)	COL11A2 (D1153H +2 more)	Single nucleotide variant (missense variant)	Otospondylomegaepiphyseal dysplasia, autosomal recessive +2 more	GUncertain significance
Select item 356389	NM_080680.3(COL11A2):c.3725C>T (p.Ser1242Leu)	COL11A2 (S1242L +2 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 907893	NM_080680.3(COL11A2):c.3706C>T (p.Arg1236Cys)	COL11A2 (R1150C +2 more)	Single nucleotide variant (missense variant)	Fibrochondrogenesis 2 +4 more	GConflicting classifications of pathogenicity
Select item 197930	NM_080680.3(COL11A2):c.3699C>T (p.Arg1233=)	COL11A2	Single nucleotide variant (synonymous variant)	Stickler Syndrome, Dominant +6 more	GBenign/Likely benign
Select item 356390	NM_080680.3(COL11A2):c.3654A>G (p.Ser1218=)	COL11A2	Single nucleotide variant (synonymous variant)	Stickler Syndrome, Dominant +6 more	GConflicting classifications of pathogenicity
Select item 178325	NM_080680.3(COL11A2):c.3616C>T (p.Leu1206=)	COL11A2	Single nucleotide variant (synonymous variant)	Stickler Syndrome, Dominant +6 more	GConflicting classifications of pathogenicity
Select item 226536	NM_080680.3(COL11A2):c.3615C>A (p.Asn1205Lys)	COL11A2 (N1205K +2 more)	Single nucleotide variant (missense variant)	Otospondylomegaepiphyseal dysplasia, autosomal recessive +5 more	GBenign/Likely benign
Select item 356391	NM_080680.3(COL11A2):c.3583-5T>C	COL11A2	Single nucleotide variant (intron variant)	not specified +6 more	GBenign/Likely benign
Select item 178326	NM_080680.3(COL11A2):c.3576C>T (p.Gly1192=)	COL11A2	Single nucleotide variant (synonymous variant)	Stickler Syndrome, Dominant +6 more	GConflicting classifications of pathogenicity
Select item 226535	NM_080680.3(COL11A2):c.3384C>T (p.Pro1128=)	COL11A2	Single nucleotide variant (synonymous variant)	Otospondylomegaepiphyseal dysplasia, autosomal recessive +7 more	GBenign
Select item 356392	NM_080680.3(COL11A2):c.3370G>A (p.Ala1124Thr)	COL11A2 (A1124T +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 356393	NM_080680.3(COL11A2):c.3328C>T (p.Pro1110Ser)	COL11A2 (P1110S +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 46566	NM_080680.3(COL11A2):c.3313-11C>T	COL11A2	Single nucleotide variant (intron variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +7 more	GBenign
Select item 356394	NM_080680.3(COL11A2):c.3267G>A (p.Val1089=)	COL11A2	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 46565	NM_080680.3(COL11A2):c.3174G>A (p.Pro1058=)	COL11A2	Single nucleotide variant (synonymous variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +7 more	GBenign
Select item 46564	NM_080680.3(COL11A2):c.3150+15A>C	COL11A2	Single nucleotide variant (intron variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +7 more	GBenign
Select item 904728	NM_080680.3(COL11A2):c.3150+7G>T	COL11A2	Single nucleotide variant (intron variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +3 more	GConflicting classifications of pathogenicity
Select item 197474	NM_080680.3(COL11A2):c.3111G>T (p.Pro1037=)	COL11A2	Single nucleotide variant (synonymous variant)	Stickler Syndrome, Dominant +6 more	GBenign/Likely benign
Select item 356395	NM_080680.3(COL11A2):c.3092C>T (p.Pro1031Leu)	COL11A2 (P1031L +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 178927	NM_080680.3(COL11A2):c.2921C>T (p.Ala974Val)	COL11A2 (A974V +2 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +5 more	GConflicting classifications of pathogenicity
Select item 356396	NM_080680.3(COL11A2):c.2848C>T (p.Pro950Ser)	COL11A2 (P950S +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 226534	NM_080680.3(COL11A2):c.2757C>T (p.Gly919=)	COL11A2	Single nucleotide variant (synonymous variant)	Connective tissue disorder +6 more	GBenign/Likely benign
Select item 356397	NM_080680.3(COL11A2):c.2735T>C (p.Val912Ala)	COL11A2 (V912A +2 more)	Single nucleotide variant (missense variant)	Stickler Syndrome, Dominant +4 more	GConflicting classifications of pathogenicity
Select item 513695	NM_080680.3(COL11A2):c.2709G>A (p.Pro903=)	COL11A2	Single nucleotide variant (synonymous variant)	COL11A2-related condition +4 more	GConflicting classifications of pathogenicity
Select item 46562	NM_080680.3(COL11A2):c.2700T>C (p.Asp900=)	COL11A2	Single nucleotide variant (synonymous variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +7 more	GBenign
Select item 356398	NM_080680.3(COL11A2):c.2684G>C (p.Gly895Ala)	COL11A2 (G895A +2 more)	Single nucleotide variant (missense variant)	Stickler Syndrome, Dominant +4 more	GConflicting classifications of pathogenicity
Select item 178327	NM_080680.3(COL11A2):c.2682G>A (p.Pro894=)	COL11A2	Single nucleotide variant (synonymous variant)	COL11A2-related condition +5 more	GConflicting classifications of pathogenicity
Select item 46561	NM_080680.3(COL11A2):c.2681C>T (p.Pro894Leu)	COL11A2 (P894L +2 more)	Single nucleotide variant (missense variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +5 more	GBenign
Select item 906098	NM_080680.3(COL11A2):c.2676A>T (p.Gly892=)	COL11A2	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 906099	NM_080680.3(COL11A2):c.2666G>A (p.Gly889Glu)	COL11A2 (G803E +2 more)	Single nucleotide variant (missense variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +2 more	GUncertain significance
Select item 46560	NM_080680.3(COL11A2):c.2628+3G>A	COL11A2	Single nucleotide variant (intron variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +7 more	GBenign
Select item 227266	NM_080680.3(COL11A2):c.2584-5del	COL11A2	Deletion (intron variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +5 more	GBenign/Likely benign
Select item 903738	NM_080680.3(COL11A2):c.2530-4G>A	COL11A2	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 46559	NM_080680.3(COL11A2):c.2520G>A (p.Arg840=)	COL11A2	Single nucleotide variant (synonymous variant)	Connective tissue disorder +6 more	GBenign/Likely benign
Select item 262308	NM_080680.3(COL11A2):c.2484+13del	COL11A2	Deletion (intron variant)	not provided +5 more	GBenign
Select item 905654	NM_080680.3(COL11A2):c.2477G>C (p.Gly826Ala)	COL11A2 (G740A +2 more)	Single nucleotide variant (missense variant)	Otospondylomegaepiphyseal dysplasia, autosomal recessive +2 more	GUncertain significance
Select item 905655	NM_080680.3(COL11A2):c.2431-4C>T	COL11A2	Single nucleotide variant (intron variant)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +3 more	GConflicting classifications of pathogenicity
Select item 356399	NM_080680.3(COL11A2):c.2416C>T (p.Arg806Cys)	COL11A2 (R806C +2 more)	Single nucleotide variant (missense variant)	Otospondylomegaepiphyseal dysplasia, autosomal recessive +4 more	GConflicting classifications of pathogenicity
Select item 196635	NM_080680.3(COL11A2):c.2336C>T (p.Pro779Leu)	COL11A2 (P779L +2 more)	Single nucleotide variant (missense variant)	Stickler Syndrome, Dominant +5 more	GBenign/Likely benign
Select item 286092	NM_080680.3(COL11A2):c.2300A>G (p.Glu767Gly)	COL11A2 (E767G +2 more)	Single nucleotide variant (missense variant)	Fibrochondrogenesis 2 +3 more	GConflicting classifications of pathogenicity
Select item 356400	NM_080680.3(COL11A2):c.2271C>T (p.Gly757=)	COL11A2	Single nucleotide variant (synonymous variant)	COL11A2-related condition +6 more	GConflicting classifications of pathogenicity
Select item 561277	NM_080680.3(COL11A2):c.2254G>A (p.Val752Met)	COL11A2 (V752M +2 more)	Single nucleotide variant (missense variant)	Fibrochondrogenesis 2 +5 more	GConflicting classifications of pathogenicity
Select item 547218	NM_080680.3(COL11A2):c.2220G>A (p.Glu740=)	COL11A2	Single nucleotide variant (synonymous variant)	Connective tissue disorder +4 more	GConflicting classifications of pathogenicity
Select item 356401	NM_080680.3(COL11A2):c.2215-11A>G	COL11A2	Single nucleotide variant (intron variant)	Stickler Syndrome, Dominant +3 more	GConflicting classifications of pathogenicity
Select item 162992	NM_080680.3(COL11A2):c.2186G>A (p.Arg729Gln)	COL11A2 (R729Q +2 more)	Single nucleotide variant (missense variant)	Fibrochondrogenesis 2 +7 more	GBenign/Likely benign
Select item 356402	NM_080680.3(COL11A2):c.2182A>T (p.Ile728Phe)	COL11A2 (I728F +2 more)	Single nucleotide variant (missense variant)	Stickler Syndrome, Dominant +5 more	GConflicting classifications of pathogenicity

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