Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_080680.3(COL11A2):c.4392+1G>A	SNV Germline	Chr6:33166512	Pathogenic	Otospondylomegaepiphyseal dysplasia, autosomal dominant Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA281687	rs_750995470	3 SubmittersRCV000018657 RCV001659702
NM_080680.3(COL11A2):c.1981G>A (p.Gly661Arg)	SNV Germline	Chr6:33177216	Pathogenic	Otospondylomegaepiphyseal dysplasia, autosomal recessive Condition: not provided	Criteria Provided Single Submitter	CA127087	rs_121912945	2 SubmittersRCV000018658 RCV001851920
NM_080680.3(COL11A2):c.4322G>A (p.Gly1441Glu)	SNV Germline	Chr6:33166736	Pathogenic	Otospondylomegaepiphyseal dysplasia, autosomal dominant	No Assertion Criteria Provided	CA127091	rs_121912946	1 SubmittersRCV000018660
NM_080680.3(COL11A2):c.2492C>A (p.Ser831Ter)	SNV Germline	Chr6:33174048	Pathogenic	Otospondylomegaepiphyseal dysplasia, autosomal recessive	No Assertion Criteria Provided	CA127095	rs_121912949	1 SubmittersRCV000018664
NM_080680.3(COL11A2):c.4135C>T (p.Arg1379Ter)	SNV Germline	Chr6:33167305	Pathogenic/Likely pathogenic	Otospondylomegaepiphyseal dysplasia, autosomal dominant Autosomal dominant nonsyndromic hearing loss 13 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA281690	rs_121912950	6 SubmittersRCV000018665 RCV000761299 RCV001268065
NM_080680.3(COL11A2):c.3991C>T (p.Arg1331Ter)	SNV Germline	Chr6:33167822	Pathogenic	Otospondylomegaepiphyseal dysplasia, autosomal recessive Otospondylomegaepiphyseal dysplasia, autosomal recessive Autosomal dominant nonsyndromic hearing loss 13 Autosomal recessive nonsyndromic hearing loss 53 Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal dominant Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA127099	rs_121912951	3 SubmittersRCV000018666 RCV002496405 RCV002513107
NM_080680.3(COL11A2):c.1615C>T (p.Arg539Trp)	SNV Germline	Chr6:33178970	Conflicting classifications of pathogenicity	not specified Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive Otospondylomegaepiphyseal dysplasia, autosomal dominant Stickler Syndrome, Dominant Connective tissue disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA138614	rs_145499142	12 SubmittersRCV000039826 RCV000268570 RCV000305029 RCV000319689 RCV000359665 RCV000659336 RCV000709864
NM_080680.3(COL11A2):c.4683A>G (p.Thr1561=)	SNV Germline	Chr6:33165616	Conflicting classifications of pathogenicity	not specified Stickler Syndrome, Dominant Otospondylomegaepiphyseal dysplasia, autosomal recessive Otospondylomegaepiphyseal dysplasia, autosomal dominant Fibrochondrogenesis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA175557	rs_34055850	8 SubmittersRCV000150347 RCV000274971 RCV000299642 RCV000367094 RCV000404657 RCV001521033
NM_080680.3(COL11A2):c.3932A>G (p.Asn1311Ser)	SNV Germline	Chr6:33168547	Conflicting classifications of pathogenicity	not specified Otospondylomegaepiphyseal dysplasia, autosomal recessive Otospondylomegaepiphyseal dysplasia, autosomal dominant Fibrochondrogenesis 2 Stickler Syndrome, Dominant Autosomal dominant nonsyndromic hearing loss 13 Condition: not provided COL11A2-related disorder	Criteria Provided Conflicting Classifications	CA183082	rs_727504460	6 SubmittersRCV000155584 RCV000261111 RCV000301208 RCV000353712 RCV000368741 RCV000477787 RCV001651028 RCV003907479
NM_080680.3(COL11A2):c.3616C>T (p.Leu1206=)	SNV Germline	Chr6:33170067	Conflicting classifications of pathogenicity	not specified Stickler Syndrome, Dominant Otospondylomegaepiphyseal dysplasia, autosomal dominant Otospondylomegaepiphyseal dysplasia, autosomal recessive Fibrochondrogenesis 2 Condition: not provided COL11A2-related disorder	Criteria Provided Conflicting Classifications	CA182113	rs_147576338	7 SubmittersRCV000155069 RCV000338212 RCV000278452 RCV000332238 RCV000372982 RCV000731331 RCV003945231
NM_080680.3(COL11A2):c.3576C>T (p.Gly1192=)	SNV Germline	Chr6:33170332	Conflicting classifications of pathogenicity	not specified Otospondylomegaepiphyseal dysplasia, autosomal recessive Fibrochondrogenesis 2 Stickler Syndrome, Dominant Otospondylomegaepiphyseal dysplasia, autosomal dominant Connective tissue disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA182115	rs_138380958	8 SubmittersRCV000155070 RCV000261044 RCV000369862 RCV000330030 RCV000375471 RCV000680466 RCV001409061
NM_080680.3(COL11A2):c.2682G>A (p.Pro894=)	SNV Germline	Chr6:33173502	Conflicting classifications of pathogenicity	not specified Otospondylomegaepiphyseal dysplasia, autosomal recessive Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal dominant Condition: not provided COL11A2-related disorder	Criteria Provided Conflicting Classifications	CA182117	rs_113067047	5 SubmittersRCV000155071 RCV001154198 RCV001154200 RCV001154199 RCV001697115 RCV003975209
NM_080680.3(COL11A2):c.1287C>T (p.Gly429=)	SNV Germline	Chr6:33180330	Conflicting classifications of pathogenicity	not specified Otospondylomegaepiphyseal dysplasia, autosomal recessive Stickler Syndrome, Dominant Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA175571	rs_549704545	4 SubmittersRCV000150355 RCV000263155 RCV000299559 RCV000333620 RCV000354391 RCV001552633
NM_080680.3(COL11A2):c.5000G>A (p.Arg1667His)	SNV Germline	Chr6:33164337	Conflicting classifications of pathogenicity	not specified Otospondylomegaepiphyseal dysplasia, autosomal dominant Otospondylomegaepiphyseal dysplasia, autosomal recessive Fibrochondrogenesis 2 Condition: not provided Stickler Syndrome, Dominant Connective tissue disorder Autosomal recessive nonsyndromic hearing loss 53	Criteria Provided Conflicting Classifications	CA182105	rs_146555195	11 SubmittersRCV000155065 RCV000277747 RCV000326882 RCV000271332 RCV000427587 RCV000381519 RCV000680464 RCV001804866
NM_080680.3(COL11A2):c.4040C>A (p.Pro1347Gln)	SNV Germline	Chr6:33167508	Conflicting classifications of pathogenicity	not specified Autosomal dominant nonsyndromic hearing loss 13 Autosomal recessive nonsyndromic hearing loss 53 Otospondylomegaepiphyseal dysplasia, autosomal recessive Otospondylomegaepiphyseal dysplasia, autosomal dominant Fibrochondrogenesis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA175561	rs_142890313	5 SubmittersRCV000150349 RCV000764645 RCV001560335
NM_080680.3(COL11A2):c.2921C>T (p.Ala974Val)	SNV Germline	Chr6:33172356	Conflicting classifications of pathogenicity	not specified Autosomal recessive nonsyndromic hearing loss 53 Autosomal dominant nonsyndromic hearing loss 13 Otospondylomegaepiphyseal dysplasia, autosomal dominant Otospondylomegaepiphyseal dysplasia, autosomal recessive Fibrochondrogenesis 2 Connective tissue disorder Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive Condition: not provided Otospondylomegaepiphyseal dysplasia, autosomal dominant	Criteria Provided Conflicting Classifications	CA183327	rs_376797260	6 SubmittersRCV000155702 RCV000709936 RCV000680469 RCV001154083 RCV001154084 RCV001537799 RCV001154085
NM_080680.3(COL11A2):c.1637G>A (p.Arg546Gln)	SNV Germline	Chr6:33178948	Conflicting classifications of pathogenicity	Condition: not provided Otospondylomegaepiphyseal dysplasia, autosomal recessive Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal dominant Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA240966	rs_199866657	8 SubmittersRCV000175243 RCV001151604 RCV001151605 RCV001154613 RCV002516668
NM_080680.3(COL11A2):c.4652G>A (p.Arg1551Gln)	SNV Germline	Chr6:33165647	Conflicting classifications of pathogenicity	not specified Stickler Syndrome, Dominant Otospondylomegaepiphyseal dysplasia, autosomal recessive Otospondylomegaepiphyseal dysplasia, autosomal dominant Fibrochondrogenesis 2 Condition: not provided COL11A2-related disorder	Criteria Provided Conflicting Classifications	CA246924	rs_145343609	8 SubmittersRCV000218581 RCV000320721 RCV000328722 RCV000381022 RCV000377623 RCV000724415 RCV004545755
NM_080680.3(COL11A2):c.4959C>T (p.Tyr1653=)	SNV Germline	Chr6:33164378	Conflicting classifications of pathogenicity	Condition: not provided Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal dominant Otospondylomegaepiphyseal dysplasia, autosomal recessive	Criteria Provided Conflicting Classifications	CA246955	rs_140017436	4 SubmittersRCV000724553 RCV001157662 RCV001157661 RCV001157660
NM_080680.3(COL11A2):c.889G>A (p.Gly297Ser)	SNV Germline	Chr6:33185042	Conflicting classifications of pathogenicity	not specified Otospondylomegaepiphyseal dysplasia, autosomal dominant Otospondylomegaepiphyseal dysplasia, autosomal dominant Autosomal recessive nonsyndromic hearing loss 53 Autosomal dominant nonsyndromic hearing loss 13 Otospondylomegaepiphyseal dysplasia, autosomal recessive Fibrochondrogenesis 2 Condition: not provided Autosomal dominant nonsyndromic hearing loss 13 Connective tissue disorder	Criteria Provided Conflicting Classifications	CA247358	rs_139116571	8 SubmittersRCV000223442 RCV000678342 RCV000764647 RCV000724260 RCV001253705 RCV002277425
NM_080680.3(COL11A2):c.688G>T (p.Gly230Trp)	SNV Germline	Chr6:33186737	Conflicting classifications of pathogenicity	not specified Stickler Syndrome, Dominant Otospondylomegaepiphyseal dysplasia, autosomal recessive Fibrochondrogenesis 2 Autosomal recessive nonsyndromic hearing loss 53 Autosomal dominant nonsyndromic hearing loss 13 Otospondylomegaepiphyseal dysplasia, autosomal dominant Connective tissue disorder Condition: not provided COL11A2-related disorder	Criteria Provided Conflicting Classifications	CA3751596	rs_141430703	8 SubmittersRCV000217677 RCV000293819 RCV000348697 RCV000393362 RCV000490461 RCV000387942 RCV002277571 RCV001510421 RCV003947688
NM_080680.3(COL11A2):c.4751-9A>G	SNV Germline	Chr6:33164973	Conflicting classifications of pathogenicity	not specified Otospondylomegaepiphyseal dysplasia, autosomal recessive Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal dominant Stickler Syndrome, Dominant Condition: not provided Connective tissue disorder COL11A2-related disorder	Criteria Provided Conflicting Classifications	CA3749999	rs_555680585	6 SubmittersRCV000222702 RCV000284515 RCV000345137 RCV000346515 RCV000407039 RCV000840675 RCV002277577 RCV003929887
NM_080680.3(COL11A2):c.4383C>T (p.Pro1461=)	SNV Germline	Chr6:33166522	Conflicting classifications of pathogenicity	not specified Fibrochondrogenesis 2 Stickler Syndrome, Dominant Otospondylomegaepiphyseal dysplasia, autosomal recessive Otospondylomegaepiphyseal dysplasia, autosomal dominant Condition: not provided COL11A2-related disorder	Criteria Provided Conflicting Classifications	CA3750117	rs_148262058	6 SubmittersRCV000219726 RCV000302355 RCV000310534 RCV000340894 RCV000406161 RCV001705187 RCV003907789
NM_080680.3(COL11A2):c.1819-10G>A	SNV Germline	Chr6:33178195	Conflicting classifications of pathogenicity	not specified Otospondylomegaepiphyseal dysplasia, autosomal dominant Otospondylomegaepiphyseal dysplasia, autosomal recessive Condition: not provided Fibrochondrogenesis 2	Criteria Provided Conflicting Classifications	CA3751180	rs_3129202	6 SubmittersRCV000219221 RCV001154508 RCV001154510 RCV001486639 RCV001154509
NM_080680.3(COL11A2):c.1612-10G>C	SNV Germline	Chr6:33178983	Conflicting classifications of pathogenicity	not specified Otospondylomegaepiphyseal dysplasia, autosomal dominant Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive Stickler Syndrome, Dominant Connective tissue disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA3751282	rs_182657680	9 SubmittersRCV000219751 RCV000389556 RCV000261045 RCV000374335 RCV000295481 RCV000659335 RCV001513105
NM_080680.3(COL11A2):c.752A>T (p.Gln251Leu)	SNV Germline	Chr6:33186673	Conflicting classifications of pathogenicity	not specified Stickler Syndrome, Dominant Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive Otospondylomegaepiphyseal dysplasia, autosomal dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA3751587	rs_201399429	3 SubmittersRCV000215858 RCV000278458 RCV000262918 RCV000372958 RCV000357558 RCV002517538
NM_080680.3(COL11A2):c.230C>A (p.Pro77Gln)	SNV Germline	Chr6:33189322	Conflicting classifications of pathogenicity	not specified Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal dominant Otospondylomegaepiphyseal dysplasia, autosomal recessive Stickler Syndrome, Dominant Condition: not provided Connective tissue disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3751735	rs_35765893	7 SubmittersRCV000214622 RCV000274718 RCV000385285 RCV000275901 RCV000333347 RCV001722140 RCV002277574 RCV003165522
NM_080680.3(COL11A2):c.5071-7C>G	SNV Germline	Chr6:33163825	Conflicting classifications of pathogenicity	Otospondylomegaepiphyseal dysplasia, autosomal recessive Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal dominant Condition: not provided COL11A2-related disorder	Criteria Provided Conflicting Classifications	CA3749912	rs_200548977	6 SubmittersRCV001153348 RCV001153347 RCV001155958 RCV001421993 RCV003891980
NM_080680.3(COL11A2):c.4854C>G (p.Asp1618Glu)	SNV Germline	Chr6:33164861	Conflicting classifications of pathogenicity	Otospondylomegaepiphyseal dysplasia, autosomal dominant Nonsyndromic Hearing Loss, Dominant Condition: not provided Otospondylomegaepiphyseal dysplasia, autosomal recessive Stickler Syndrome, Dominant Fibrochondrogenesis 1 Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal dominant Otospondylomegaepiphyseal dysplasia, autosomal recessive Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3749989	rs_151319255	7 SubmittersRCV000263619 RCV000274352 RCV000275678 RCV000374670 RCV000369185 RCV000331778 RCV001249267 RCV003165728
NM_080680.3(COL11A2):c.2300A>G (p.Glu767Gly)	SNV Germline	Chr6:33175650	Conflicting classifications of pathogenicity	Condition: not provided Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal dominant Otospondylomegaepiphyseal dysplasia, autosomal recessive	Criteria Provided Conflicting Classifications	CA3750958	rs_775641112	3 SubmittersRCV000296836 RCV001156809 RCV001156810 RCV001156808
NM_080680.3(COL11A2):c.4675C>T (p.Arg1559Trp)	SNV Germline	Chr6:33165624	Conflicting classifications of pathogenicity	Stickler Syndrome, Dominant Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive Otospondylomegaepiphyseal dysplasia, autosomal dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA3750023	rs_370966667	4 SubmittersRCV000259748 RCV000316797 RCV000359864 RCV000356933 RCV000725854
NM_080680.3(COL11A2):c.4651C>T (p.Arg1551Trp)	SNV Germline	Chr6:33165648	Conflicting classifications of pathogenicity	Fibrochondrogenesis 2 Stickler Syndrome, Dominant Otospondylomegaepiphyseal dysplasia, autosomal dominant Otospondylomegaepiphyseal dysplasia, autosomal recessive Condition: not provided not specified COL11A2-related disorder	Criteria Provided Conflicting Classifications	CA3750029	rs_141254777	6 SubmittersRCV000294143 RCV000295270 RCV000352446 RCV000391825 RCV000766647 RCV000498284 RCV003401372
NM_080680.3(COL11A2):c.4586C>T (p.Pro1529Leu)	SNV Germline	Chr6:33165713	Conflicting classifications of pathogenicity	Otospondylomegaepiphyseal dysplasia, autosomal dominant Stickler Syndrome, Dominant Otospondylomegaepiphyseal dysplasia, autosomal recessive Fibrochondrogenesis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA3750047	rs_201315111	3 SubmittersRCV000297620 RCV000306065 RCV000354788 RCV000406272 RCV001553516
NM_080680.3(COL11A2):c.3654A>G (p.Ser1218=)	SNV Germline	Chr6:33169867	Conflicting classifications of pathogenicity	Stickler Syndrome, Dominant Otospondylomegaepiphyseal dysplasia, autosomal recessive Otospondylomegaepiphyseal dysplasia, autosomal dominant Fibrochondrogenesis 2 not specified COL11A2-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA3750420	rs_146962984	5 SubmittersRCV000325506 RCV000331502 RCV000366423 RCV000386057 RCV000605457 RCV003957835 RCV002058602
NM_080680.3(COL11A2):c.3328C>T (p.Pro1110Ser)	SNV Germline	Chr6:33171152	Conflicting classifications of pathogenicity	Otospondylomegaepiphyseal dysplasia, autosomal dominant Stickler Syndrome, Dominant Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive Condition: not provided	Criteria Provided Conflicting Classifications	CA3750551	rs_141164483	3 SubmittersRCV000260343 RCV000348277 RCV000355182 RCV000405447 RCV001580488
NM_080680.3(COL11A2):c.2848C>T (p.Pro950Ser)	SNV Germline	Chr6:33172580	Conflicting classifications of pathogenicity	Otospondylomegaepiphyseal dysplasia, autosomal recessive Stickler Syndrome, Dominant Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA3750711	rs_768902062	3 SubmittersRCV000282164 RCV000283442 RCV000337227 RCV000391260 RCV001770281
NM_080680.3(COL11A2):c.1208C>T (p.Pro403Leu)	SNV Germline	Chr6:33180977	Conflicting classifications of pathogenicity	Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal dominant Stickler Syndrome, Dominant Otospondylomegaepiphyseal dysplasia, autosomal recessive not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA3751427	rs_201179101	4 SubmittersRCV000289243 RCV000330126 RCV000383614 RCV000388187 RCV000506175 RCV001584080
NM_080680.3(COL11A2):c.4951G>A (p.Val1651Ile)	SNV Germline	Chr6:33164386	Conflicting classifications of pathogenicity	Stickler Syndrome, Dominant Otospondylomegaepiphyseal dysplasia, autosomal dominant Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive Condition: not provided	Criteria Provided Conflicting Classifications	CA3749945	rs_766589324	2 SubmittersRCV000292764 RCV000332746 RCV000374418 RCV000338427 RCV001850898
NM_080680.3(COL11A2):c.3092C>T (p.Pro1031Leu)	SNV Germline	Chr6:33171771	Conflicting classifications of pathogenicity	Otospondylomegaepiphyseal dysplasia, autosomal recessive Otospondylomegaepiphyseal dysplasia, autosomal dominant Fibrochondrogenesis 2 Stickler Syndrome, Dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA3750643	rs_528009333	4 SubmittersRCV000274780 RCV000294955 RCV000317488 RCV000389201 RCV000596294
NM_080680.3(COL11A2):c.2182A>T (p.Ile728Phe)	SNV Germline	Chr6:33176291	Conflicting classifications of pathogenicity	Stickler Syndrome, Dominant Otospondylomegaepiphyseal dysplasia, autosomal dominant Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA3751010	rs_188490457	5 SubmittersRCV000276412 RCV000319359 RCV000333898 RCV000353689 RCV001559646 RCV000602277
NM_080680.3(COL11A2):c.453T>C (p.Arg151=)	SNV Germline	Chr6:33188515	Conflicting classifications of pathogenicity	Fibrochondrogenesis 2 Stickler Syndrome, Dominant Otospondylomegaepiphyseal dysplasia, autosomal dominant Otospondylomegaepiphyseal dysplasia, autosomal recessive Condition: not provided	Criteria Provided Conflicting Classifications	CA3751656	rs_147115504	2 SubmittersRCV000290354 RCV000304362 RCV000345336 RCV000390399 RCV002058606
NM_080680.3(COL11A2):c.*706G>T	SNV Germline	Chr6:33162972	Conflicting classifications of pathogenicity	Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive Otospondylomegaepiphyseal dysplasia, autosomal dominant Stickler Syndrome, Dominant	Criteria Provided Conflicting Classifications	CA10626485	rs_548143581	1 SubmittersRCV000301827 RCV000305218 RCV000365271 RCV000403042
NM_080680.3(COL11A2):c.3725C>T (p.Ser1242Leu)	SNV Germline	Chr6:33169456	Conflicting classifications of pathogenicity	Stickler Syndrome, Dominant Otospondylomegaepiphyseal dysplasia, autosomal dominant Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive Condition: not provided Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA3750387	rs_534570825	5 SubmittersRCV000280238 RCV000300075 RCV000408334 RCV000408369 RCV000657971 RCV002523565 RCV000609757
NM_080680.3(COL11A2):c.3267G>A (p.Val1089=)	SNV Germline	Chr6:33171316	Conflicting classifications of pathogenicity	Otospondylomegaepiphyseal dysplasia, autosomal recessive Fibrochondrogenesis 2 Stickler Syndrome, Dominant Otospondylomegaepiphyseal dysplasia, autosomal dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA3750581	rs_781462105	2 SubmittersRCV000266996 RCV000291601 RCV000346715 RCV000381311 RCV002058603
NM_080680.3(COL11A2):c.2416C>T (p.Arg806Cys)	SNV Germline	Chr6:33174541	Conflicting classifications of pathogenicity	Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal dominant Stickler Syndrome, Dominant Otospondylomegaepiphyseal dysplasia, autosomal recessive Condition: not provided	Criteria Provided Conflicting Classifications	CA3750918	rs_376355040	2 SubmittersRCV000268237 RCV000303393 RCV000307051 RCV000360580 RCV002058604
NM_080680.3(COL11A2):c.2215-11A>G	SNV Germline	Chr6:33176080	Conflicting classifications of pathogenicity	Otospondylomegaepiphyseal dysplasia, autosomal dominant Stickler Syndrome, Dominant Otospondylomegaepiphyseal dysplasia, autosomal recessive Fibrochondrogenesis 2	Criteria Provided Conflicting Classifications	CA3750990	rs_557236389	1 SubmittersRCV000305033 RCV000340039 RCV000343499 RCV000391431
NM_080680.3(COL11A2):c.1818+15G>A	SNV Germline	Chr6:33178293	Conflicting classifications of pathogenicity	Stickler Syndrome, Dominant Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive Otospondylomegaepiphyseal dysplasia, autosomal dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA3751191	rs_549588854	2 SubmittersRCV000263379 RCV000266997 RCV000324551 RCV000320843 RCV002524475
NM_080680.3(COL11A2):c.*822C>G	SNV Germline	Chr6:33162856	Conflicting classifications of pathogenicity	Otospondylomegaepiphyseal dysplasia, autosomal dominant Otospondylomegaepiphyseal dysplasia, autosomal recessive Fibrochondrogenesis 2 Stickler Syndrome, Dominant	Criteria Provided Conflicting Classifications	CA10626641	rs_536130072	1 SubmittersRCV000335549 RCV000348721 RCV000374946 RCV000403286
NM_080680.3(COL11A2):c.3883G>A (p.Glu1295Lys)	SNV Germline	Chr6:33168729	Conflicting classifications of pathogenicity	Otospondylomegaepiphyseal dysplasia, autosomal recessive Stickler Syndrome, Dominant Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal dominant Condition: not provided Autosomal recessive nonsyndromic hearing loss 53 Autosomal dominant nonsyndromic hearing loss 13 Otospondylomegaepiphyseal dysplasia, autosomal recessive Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal dominant	Criteria Provided Conflicting Classifications	CA3750325	rs_758507327	5 SubmittersRCV000264819 RCV000323351 RCV000322375 RCV000383939 RCV001850899 RCV002487566
NM_080680.3(COL11A2):c.3850C>T (p.Arg1284Trp)	SNV Germline	Chr6:33168957	Conflicting classifications of pathogenicity	Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive Otospondylomegaepiphyseal dysplasia, autosomal dominant Stickler Syndrome, Dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA10626652	rs_886061315	3 SubmittersRCV000292046 RCV000293307 RCV000352855 RCV000382942 RCV001850900
NM_080680.3(COL11A2):c.2735T>C (p.Val912Ala)	SNV Germline	Chr6:33173349	Conflicting classifications of pathogenicity	Otospondylomegaepiphyseal dysplasia, autosomal dominant Stickler Syndrome, Dominant Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive Condition: not provided	Criteria Provided Conflicting Classifications	CA3750754	rs_548592690	3 SubmittersRCV000274611 RCV000309896 RCV000331935 RCV000366859 RCV001850901
NM_080680.3(COL11A2):c.2684G>C (p.Gly895Ala)	SNV Germline	Chr6:33173400	Conflicting classifications of pathogenicity	Otospondylomegaepiphyseal dysplasia, autosomal recessive Otospondylomegaepiphyseal dysplasia, autosomal dominant Fibrochondrogenesis 2 Stickler Syndrome, Dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA3750764	rs_555936455	3 SubmittersRCV000290480 RCV000344614 RCV000379273 RCV000400234 RCV001538789
NM_080680.3(COL11A2):c.2271C>T (p.Gly757=)	SNV Germline	Chr6:33175679	Conflicting classifications of pathogenicity	Stickler Syndrome, Dominant Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal dominant Otospondylomegaepiphyseal dysplasia, autosomal recessive Connective tissue disorder Condition: not provided COL11A2-related disorder	Criteria Provided Conflicting Classifications	CA3750960	rs_745568808	6 SubmittersRCV000278172 RCV000282672 RCV000335519 RCV000374777 RCV000680470 RCV001338547 RCV003957836
NM_080680.3(COL11A2):c.1381G>T (p.Gly461Cys)	SNV Germline	Chr6:33179784	Conflicting classifications of pathogenicity	Stickler Syndrome, Dominant Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive Otospondylomegaepiphyseal dysplasia, autosomal dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA3751368	rs_764998691	3 SubmittersRCV000291185 RCV000346166 RCV000386159 RCV000350359 RCV001662334
NM_080680.3(COL11A2):c.5A>G (p.Glu2Gly)	SNV Germline	Chr6:33192236	Conflicting classifications of pathogenicity	Fibrochondrogenesis 2 Stickler Syndrome, Dominant Otospondylomegaepiphyseal dysplasia, autosomal dominant Otospondylomegaepiphyseal dysplasia, autosomal recessive Condition: not provided Autosomal dominant nonsyndromic hearing loss 13	Criteria Provided Conflicting Classifications	CA3751773	rs_568840295	4 SubmittersRCV000289533 RCV000327462 RCV000384306 RCV000342251 RCV002461106 RCV003387834
NM_080680.3(COL11A2):c.3289A>C (p.Thr1097Pro)	SNV Germline	Chr6:33171294	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant nonsyndromic hearing loss 13 Autosomal recessive nonsyndromic hearing loss 53 Otospondylomegaepiphyseal dysplasia, autosomal dominant Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive	Criteria Provided Conflicting Classifications	CA3750574	rs_138045609	3 SubmittersRCV000437358 RCV000764646
NM_080680.3(COL11A2):c.3058C>T (p.Arg1020Ter)	SNV Germline	Chr6:33171805	Pathogenic/Likely pathogenic	Condition: not provided Autosomal recessive nonsyndromic hearing loss 53 Autosomal dominant nonsyndromic hearing loss 13 Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal dominant Otospondylomegaepiphyseal dysplasia, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA16618279	rs_911722283	3 SubmittersRCV000487207 RCV002489177
NM_080680.3(COL11A2):c.587T>C (p.Leu196Pro)	SNV Germline	Chr6:33188381	Conflicting classifications of pathogenicity	Condition: not provided Otospondylomegaepiphyseal dysplasia, autosomal dominant COL11A2-related disorder	Criteria Provided Conflicting Classifications	CA3751631	rs_150982987	4 SubmittersRCV000521843 RCV000678343 RCV003960237
NM_080680.3(COL11A2):c.5088G>A (p.Thr1696=)	SNV Germline	Chr6:33163801	Conflicting classifications of pathogenicity	not specified Otospondylomegaepiphyseal dysplasia, autosomal recessive Otospondylomegaepiphyseal dysplasia, autosomal dominant Fibrochondrogenesis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA3749906	rs_142893093	4 SubmittersRCV000610002 RCV001152079 RCV001152080 RCV001152081 RCV001527817
NM_080680.3(COL11A2):c.5084G>A (p.Arg1695Gln)	SNV Germline	Chr6:33163805	Conflicting classifications of pathogenicity	not specified Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive Otospondylomegaepiphyseal dysplasia, autosomal dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA3749908	rs_781633250	4 SubmittersRCV000615323 RCV001153346 RCV001152082 RCV001152083 RCV001662648
NM_080680.3(COL11A2):c.-21C>G	SNV Germline	Chr6:33192261	Conflicting classifications of pathogenicity	not specified Otospondylomegaepiphyseal dysplasia, autosomal recessive Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal dominant	Criteria Provided Conflicting Classifications	CA3751776	rs_767695417	2 SubmittersRCV000600073 RCV001155744 RCV001155746 RCV001155745
NM_080680.3(COL11A2):c.2709G>A (p.Pro903=)	SNV Germline	Chr6:33173375	Conflicting classifications of pathogenicity	Otospondylomegaepiphyseal dysplasia, autosomal recessive Otospondylomegaepiphyseal dysplasia, autosomal dominant Fibrochondrogenesis 2 Condition: not provided COL11A2-related disorder	Criteria Provided Conflicting Classifications	CA3750756	rs_779878105	4 SubmittersRCV001156605 RCV001156603 RCV001156604 RCV001698018 RCV003962793
NM_080680.3(COL11A2):c.2220G>A (p.Glu740=)	SNV Germline	Chr6:33176064	Conflicting classifications of pathogenicity	Connective tissue disorder Otospondylomegaepiphyseal dysplasia, autosomal recessive Otospondylomegaepiphyseal dysplasia, autosomal dominant Fibrochondrogenesis 2 Condition: not provided	Criteria Provided Conflicting Classifications		rs_202032297	3 SubmittersRCV000659338 RCV001151380 RCV001151381 RCV001151382 RCV002534314
NM_080680.3(COL11A2):c.628A>G (p.Ile210Val)	SNV Germline	Chr6:33186797	Conflicting classifications of pathogenicity	Otospondylomegaepiphyseal dysplasia, autosomal dominant Condition: not provided	Criteria Provided Conflicting Classifications		rs_778295133	2 SubmittersRCV000660491 RCV001294751
NM_080680.3(COL11A2):c.2254G>A (p.Val752Met)	SNV Germline	Chr6:33176030	Conflicting classifications of pathogenicity	Connective tissue disorder Otospondylomegaepiphyseal dysplasia, autosomal dominant Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive Condition: not provided not specified	Criteria Provided Conflicting Classifications		rs_201076557	6 SubmittersRCV000680471 RCV001151378 RCV001151379 RCV001151377 RCV001475501 RCV002298737
NM_080680.3(COL11A2):c.579C>T (p.Ala193=)	SNV Germline	Chr6:33188389	Conflicting classifications of pathogenicity	Condition: not provided Otospondylomegaepiphyseal dysplasia, autosomal recessive Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal dominant COL11A2-related disorder	Criteria Provided Conflicting Classifications		rs_201054429	4 SubmittersRCV000841577 RCV001155657 RCV001155658 RCV001157334 RCV003965626
NM_080680.3(COL11A2):c.4465G>A (p.Gly1489Ser)	SNV Unknown	Chr6:33165948	Pathogenic	Otospondylomegaepiphyseal dysplasia, autosomal dominant	Criteria Provided Single Submitter		rs_1583287711	1 SubmittersRCV000856785
NM_001844.5(COL2A1):c.3714C>A (p.Tyr1238Ter)	SNV Unknown	Chr12:47975489	Pathogenic	Otospondylomegaepiphyseal dysplasia, autosomal dominant	Criteria Provided Single Submitter		rs_1481453913	1 SubmittersRCV000856777
NM_001844.5(COL2A1):c.1129G>A (p.Ala377Thr)	SNV Unknown	Chr12:47987703	Pathogenic	Otospondylomegaepiphyseal dysplasia, autosomal dominant	Criteria Provided Single Submitter		rs_1045330263	1 SubmittersRCV000856812
NM_080680.3(COL11A2):c.1698C>T (p.Leu566=)	SNV Germline	Chr6:33178700	Conflicting classifications of pathogenicity	Condition: not provided Otospondylomegaepiphyseal dysplasia, autosomal recessive Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal dominant COL11A2-related disorder	Criteria Provided Conflicting Classifications		rs_139350991	5 SubmittersRCV000998579 RCV001151600 RCV001157017 RCV001157018 RCV003953413
NM_080680.3(COL11A2):c.4983C>T (p.Asp1661=)	SNV Germline	Chr6:33164354	Conflicting classifications of pathogenicity	Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive Otospondylomegaepiphyseal dysplasia, autosomal dominant Condition: not provided	Criteria Provided Conflicting Classifications		rs_528251146	2 SubmittersRCV001155961 RCV001155959 RCV001155960 RCV002070919
NM_080680.3(COL11A2):c.4706G>A (p.Arg1569His)	SNV Germline	Chr6:33165593	Conflicting classifications of pathogenicity	Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive Otospondylomegaepiphyseal dysplasia, autosomal dominant Condition: not provided	Criteria Provided Conflicting Classifications		rs_749716412	3 SubmittersRCV001156078 RCV001156076 RCV001156077 RCV002032438
NM_080680.3(COL11A2):c.4228A>G (p.Lys1410Glu)	SNV Germline	Chr6:33167072	Conflicting classifications of pathogenicity	Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal dominant Otospondylomegaepiphyseal dysplasia, autosomal recessive Condition: not provided	Criteria Provided Conflicting Classifications		rs_780158388	2 SubmittersRCV001152394 RCV001152396 RCV001152395 RCV003558720
NM_080680.3(COL11A2):c.3706C>T (p.Arg1236Cys)	SNV Germline	Chr6:33169475	Conflicting classifications of pathogenicity	Otospondylomegaepiphyseal dysplasia, autosomal recessive Condition: not provided Otospondylomegaepiphyseal dysplasia, autosomal dominant Fibrochondrogenesis 2 Complete trisomy 21 syndrome	Criteria Provided Conflicting Classifications		rs_751612997	4 SubmittersRCV001158060 RCV001346855 RCV001158059 RCV001158061 RCV001375154
NM_080680.3(COL11A2):c.2676A>T (p.Gly892=)	SNV Germline	Chr6:33173508	Conflicting classifications of pathogenicity	Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive Otospondylomegaepiphyseal dysplasia, autosomal dominant Condition: not provided	Criteria Provided Conflicting Classifications		rs_1405058032	2 SubmittersRCV001155038 RCV001155039 RCV001155040 RCV001882483
NM_080680.3(COL11A2):c.1714C>A (p.His572Asn)	SNV Germline	Chr6:33178684	Conflicting classifications of pathogenicity	Otospondylomegaepiphyseal dysplasia, autosomal dominant Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_751888761	4 SubmittersRCV001157015 RCV001157014 RCV001157016 RCV001759912 RCV004032823
NM_080680.3(COL11A2):c.622C>T (p.Leu208=)	SNV Germline	Chr6:33186803	Conflicting classifications of pathogenicity	Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive Otospondylomegaepiphyseal dysplasia, autosomal dominant Condition: not provided	Criteria Provided Conflicting Classifications		rs_200272494	6 SubmittersRCV001155655 RCV001155654 RCV001155656 RCV001579994
NM_080680.3(COL11A2):c.222G>A (p.Gln74=)	SNV Germline	Chr6:33189330	Conflicting classifications of pathogenicity	Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal dominant Otospondylomegaepiphyseal dysplasia, autosomal recessive Condition: not provided	Criteria Provided Conflicting Classifications		rs_1772815896	2 SubmittersRCV001151891 RCV001151892 RCV001151893 RCV002557280
NM_080680.3(COL11A2):c.191G>A (p.Arg64Gln)	SNV Germline	Chr6:33189361	Conflicting classifications of pathogenicity	Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive Otospondylomegaepiphyseal dysplasia, autosomal dominant Condition: not provided	Criteria Provided Conflicting Classifications		rs_374898022	2 SubmittersRCV001153142 RCV001153143 RCV001153144 RCV002070864
NM_080680.3(COL11A2):c.-82C>G	SNV Germline	Chr6:33192322	Conflicting classifications of pathogenicity	Otospondylomegaepiphyseal dysplasia, autosomal dominant Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive	Criteria Provided Conflicting Classifications		rs_539232957	1 SubmittersRCV001157453 RCV001157452 RCV001157451
NM_080680.3(COL11A2):c.4751-12C>G	SNV Germline	Chr6:33164976	Conflicting classifications of pathogenicity	Otospondylomegaepiphyseal dysplasia, autosomal recessive Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal dominant Condition: not provided	Criteria Provided Conflicting Classifications		rs_921581176	3 SubmittersRCV001156073 RCV001156074 RCV001156075 RCV001577226
NM_080680.3(COL11A2):c.4231-4C>G	SNV Germline	Chr6:33166831	Conflicting classifications of pathogenicity	Otospondylomegaepiphyseal dysplasia, autosomal recessive Otospondylomegaepiphyseal dysplasia, autosomal dominant Fibrochondrogenesis 2	Criteria Provided Conflicting Classifications		rs_564087840	1 SubmittersRCV001152391 RCV001152392 RCV001152393
NM_080680.3(COL11A2):c.3150+7G>T	SNV Germline	Chr6:33171706	Conflicting classifications of pathogenicity	Otospondylomegaepiphyseal dysplasia, autosomal dominant Otospondylomegaepiphyseal dysplasia, autosomal recessive Fibrochondrogenesis 2 Condition: not provided	Criteria Provided Conflicting Classifications		rs_1327272043	2 SubmittersRCV001152809 RCV001158289 RCV001158290 RCV002070860
NM_080680.3(COL11A2):c.2530-4G>A	SNV Germline	Chr6:33173930	Conflicting classifications of pathogenicity	Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal dominant Otospondylomegaepiphyseal dysplasia, autosomal recessive Condition: not provided	Criteria Provided Conflicting Classifications		rs_891664323	2 SubmittersRCV001151248 RCV001151246 RCV001151247 RCV003558718
NM_080680.3(COL11A2):c.2431-4C>T	SNV Germline	Chr6:33174222	Conflicting classifications of pathogenicity	Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal dominant Otospondylomegaepiphyseal dysplasia, autosomal recessive Condition: not provided	Criteria Provided Conflicting Classifications		rs_1457746213	2 SubmittersRCV001154316 RCV001154318 RCV001154317 RCV001882481
NM_080680.3(COL11A2):c.3697C>T (p.Arg1233Cys)	SNV Germline	Chr6:33169484	Conflicting classifications of pathogenicity	Otospondylomegaepiphyseal dysplasia, autosomal recessive Condition: not provided	Criteria Provided Conflicting Classifications		rs_780613380	3 SubmittersRCV001332797 RCV001751648
NM_080680.3(COL11A2):c.3080G>A (p.Gly1027Glu)	SNV Germline	Chr6:33171783	Likely pathogenic	Otospondylomegaepiphyseal dysplasia, autosomal recessive	Criteria Provided Single Submitter		rs_2150548120	1 SubmittersRCV001809326
NM_080680.3(COL11A2):c.1726A>G (p.Thr576Ala)	SNV Germline	Chr6:33178482	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive nonsyndromic hearing loss 53 Otospondylomegaepiphyseal dysplasia, autosomal recessive Autosomal dominant nonsyndromic hearing loss 13 Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal dominant	Criteria Provided Conflicting Classifications		rs_779116250	3 SubmittersRCV002032090 RCV002486792
NM_080680.3(COL11A2):c.5102G>A (p.Arg1701Gln)	SNV Germline	Chr6:33163787	Conflicting classifications of pathogenicity	Condition: not provided Otospondylomegaepiphyseal dysplasia, autosomal recessive	Criteria Provided Conflicting Classifications			2 SubmittersRCV002603778 RCV003340636
NM_080680.3(COL11A2):c.1672C>T (p.Arg558Ter)	SNV Germline	Chr6:33178726	Pathogenic	Condition: not provided Otospondylomegaepiphyseal dysplasia, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002746403 RCV004007574
NM_080680.3(COL11A2):c.1408C>T (p.Gln470Ter)	SNV Unknown	Chr6:33179757	Likely pathogenic	Otospondylomegaepiphyseal dysplasia, autosomal recessive	Criteria Provided Single Submitter			1 SubmittersRCV003314309

SNV
Germline

Chr6:33166512

Pathogenic

Otospondylomegaepiphyseal dysplasia, autosomal dominant
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA281687

rs_750995470

3 SubmittersRCV000018657 RCV001659702

NM_080680.3(COL11A2):c.1981G>A (p.Gly661Arg)

SNV
Germline

Chr6:33177216

Pathogenic

Otospondylomegaepiphyseal dysplasia, autosomal recessive
Condition: not provided

Criteria Provided
Single Submitter

CA127087

rs_121912945

2 SubmittersRCV000018658 RCV001851920

NM_080680.3(COL11A2):c.4322G>A (p.Gly1441Glu)

SNV
Germline

Chr6:33166736

Pathogenic

Otospondylomegaepiphyseal dysplasia, autosomal dominant

No Assertion Criteria Provided

CA127091

rs_121912946

1 SubmittersRCV000018660

NM_080680.3(COL11A2):c.2492C>A (p.Ser831Ter)

SNV
Germline

Chr6:33174048

Pathogenic

Otospondylomegaepiphyseal dysplasia, autosomal recessive

No Assertion Criteria Provided

CA127095

rs_121912949

1 SubmittersRCV000018664

NM_080680.3(COL11A2):c.4135C>T (p.Arg1379Ter)

SNV
Germline

Chr6:33167305

Pathogenic/Likely pathogenic

Otospondylomegaepiphyseal dysplasia, autosomal dominant
Autosomal dominant nonsyndromic hearing loss 13
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA281690

rs_121912950

6 SubmittersRCV000018665 RCV000761299 RCV001268065

NM_080680.3(COL11A2):c.3991C>T (p.Arg1331Ter)

SNV
Germline

Chr6:33167822

Pathogenic

Otospondylomegaepiphyseal dysplasia, autosomal recessive
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Autosomal dominant nonsyndromic hearing loss 13
Autosomal recessive nonsyndromic hearing loss 53
Fibrochondrogenesis 2
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA127099

rs_121912951

3 SubmittersRCV000018666 RCV002496405 RCV002513107

NM_080680.3(COL11A2):c.1615C>T (p.Arg539Trp)

SNV
Germline

Chr6:33178970

Conflicting classifications of pathogenicity

not specified
Fibrochondrogenesis 2
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Stickler Syndrome, Dominant
Connective tissue disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA138614

rs_145499142

12 SubmittersRCV000039826 RCV000268570 RCV000305029 RCV000319689 RCV000359665 RCV000659336 RCV000709864

NM_080680.3(COL11A2):c.4683A>G (p.Thr1561=)

SNV
Germline

Chr6:33165616

Conflicting classifications of pathogenicity

not specified
Stickler Syndrome, Dominant
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Fibrochondrogenesis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA175557

rs_34055850

8 SubmittersRCV000150347 RCV000274971 RCV000299642 RCV000367094 RCV000404657 RCV001521033

NM_080680.3(COL11A2):c.3932A>G (p.Asn1311Ser)

SNV
Germline

Chr6:33168547

Conflicting classifications of pathogenicity

not specified
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Fibrochondrogenesis 2
Stickler Syndrome, Dominant
Autosomal dominant nonsyndromic hearing loss 13
Condition: not provided
COL11A2-related disorder

Criteria Provided
Conflicting Classifications

CA183082

rs_727504460

6 SubmittersRCV000155584 RCV000261111 RCV000301208 RCV000353712 RCV000368741 RCV000477787 RCV001651028 RCV003907479

NM_080680.3(COL11A2):c.3616C>T (p.Leu1206=)

SNV
Germline

Chr6:33170067

Conflicting classifications of pathogenicity

not specified
Stickler Syndrome, Dominant
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Fibrochondrogenesis 2
Condition: not provided
COL11A2-related disorder

Criteria Provided
Conflicting Classifications

CA182113

rs_147576338

7 SubmittersRCV000155069 RCV000338212 RCV000278452 RCV000332238 RCV000372982 RCV000731331 RCV003945231

NM_080680.3(COL11A2):c.3576C>T (p.Gly1192=)

SNV
Germline

Chr6:33170332

Conflicting classifications of pathogenicity

not specified
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Fibrochondrogenesis 2
Stickler Syndrome, Dominant
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Connective tissue disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA182115

rs_138380958

8 SubmittersRCV000155070 RCV000261044 RCV000369862 RCV000330030 RCV000375471 RCV000680466 RCV001409061

NM_080680.3(COL11A2):c.2682G>A (p.Pro894=)

SNV
Germline

Chr6:33173502

Conflicting classifications of pathogenicity

not specified
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Fibrochondrogenesis 2
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Condition: not provided
COL11A2-related disorder

Criteria Provided
Conflicting Classifications

CA182117

rs_113067047

5 SubmittersRCV000155071 RCV001154198 RCV001154200 RCV001154199 RCV001697115 RCV003975209

NM_080680.3(COL11A2):c.1287C>T (p.Gly429=)

SNV
Germline

Chr6:33180330

Conflicting classifications of pathogenicity

not specified
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Stickler Syndrome, Dominant
Fibrochondrogenesis 2
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA175571

rs_549704545

4 SubmittersRCV000150355 RCV000263155 RCV000299559 RCV000333620 RCV000354391 RCV001552633

NM_080680.3(COL11A2):c.5000G>A (p.Arg1667His)

SNV
Germline

Chr6:33164337

Conflicting classifications of pathogenicity

not specified
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Fibrochondrogenesis 2
Condition: not provided
Stickler Syndrome, Dominant
Connective tissue disorder
Autosomal recessive nonsyndromic hearing loss 53

Criteria Provided
Conflicting Classifications

CA182105

rs_146555195

11 SubmittersRCV000155065 RCV000277747 RCV000326882 RCV000271332 RCV000427587 RCV000381519 RCV000680464 RCV001804866

NM_080680.3(COL11A2):c.4040C>A (p.Pro1347Gln)

SNV
Germline

Chr6:33167508

Conflicting classifications of pathogenicity

not specified
Autosomal dominant nonsyndromic hearing loss 13
Autosomal recessive nonsyndromic hearing loss 53
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Fibrochondrogenesis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA175561

rs_142890313

5 SubmittersRCV000150349 RCV000764645 RCV001560335

NM_080680.3(COL11A2):c.2921C>T (p.Ala974Val)

SNV
Germline

Chr6:33172356

Conflicting classifications of pathogenicity

not specified
Autosomal recessive nonsyndromic hearing loss 53
Autosomal dominant nonsyndromic hearing loss 13
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Fibrochondrogenesis 2
Connective tissue disorder
Fibrochondrogenesis 2
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Condition: not provided
Otospondylomegaepiphyseal dysplasia, autosomal dominant

Criteria Provided
Conflicting Classifications

CA183327

rs_376797260

6 SubmittersRCV000155702 RCV000709936 RCV000680469 RCV001154083 RCV001154084 RCV001537799 RCV001154085

NM_080680.3(COL11A2):c.1637G>A (p.Arg546Gln)

SNV
Germline

Chr6:33178948

Conflicting classifications of pathogenicity

Condition: not provided
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Fibrochondrogenesis 2
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA240966

rs_199866657

8 SubmittersRCV000175243 RCV001151604 RCV001151605 RCV001154613 RCV002516668

NM_080680.3(COL11A2):c.4652G>A (p.Arg1551Gln)

SNV
Germline

Chr6:33165647

Conflicting classifications of pathogenicity

not specified
Stickler Syndrome, Dominant
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Fibrochondrogenesis 2
Condition: not provided
COL11A2-related disorder

Criteria Provided
Conflicting Classifications

CA246924

rs_145343609

8 SubmittersRCV000218581 RCV000320721 RCV000328722 RCV000381022 RCV000377623 RCV000724415 RCV004545755

NM_080680.3(COL11A2):c.4959C>T (p.Tyr1653=)

SNV
Germline

Chr6:33164378

Conflicting classifications of pathogenicity

Condition: not provided
Fibrochondrogenesis 2
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Otospondylomegaepiphyseal dysplasia, autosomal recessive

Criteria Provided
Conflicting Classifications

CA246955

rs_140017436

4 SubmittersRCV000724553 RCV001157662 RCV001157661 RCV001157660

NM_080680.3(COL11A2):c.889G>A (p.Gly297Ser)

SNV
Germline

Chr6:33185042

Conflicting classifications of pathogenicity

not specified
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Autosomal recessive nonsyndromic hearing loss 53
Autosomal dominant nonsyndromic hearing loss 13
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Fibrochondrogenesis 2
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 13
Connective tissue disorder

Criteria Provided
Conflicting Classifications

CA247358

rs_139116571

8 SubmittersRCV000223442 RCV000678342 RCV000764647 RCV000724260 RCV001253705 RCV002277425

NM_080680.3(COL11A2):c.688G>T (p.Gly230Trp)

SNV
Germline

Chr6:33186737

Conflicting classifications of pathogenicity

not specified
Stickler Syndrome, Dominant
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Fibrochondrogenesis 2
Autosomal recessive nonsyndromic hearing loss 53
Autosomal dominant nonsyndromic hearing loss 13
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Connective tissue disorder
Condition: not provided
COL11A2-related disorder

Criteria Provided
Conflicting Classifications

CA3751596

rs_141430703

8 SubmittersRCV000217677 RCV000293819 RCV000348697 RCV000393362 RCV000490461 RCV000387942 RCV002277571 RCV001510421 RCV003947688

NM_080680.3(COL11A2):c.4751-9A>G

SNV
Germline

Chr6:33164973

Conflicting classifications of pathogenicity

not specified
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Fibrochondrogenesis 2
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Stickler Syndrome, Dominant
Condition: not provided
Connective tissue disorder
COL11A2-related disorder

Criteria Provided
Conflicting Classifications

CA3749999

rs_555680585

6 SubmittersRCV000222702 RCV000284515 RCV000345137 RCV000346515 RCV000407039 RCV000840675 RCV002277577 RCV003929887

NM_080680.3(COL11A2):c.4383C>T (p.Pro1461=)

SNV
Germline

Chr6:33166522

Conflicting classifications of pathogenicity

not specified
Fibrochondrogenesis 2
Stickler Syndrome, Dominant
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Condition: not provided
COL11A2-related disorder

Criteria Provided
Conflicting Classifications

CA3750117

rs_148262058

6 SubmittersRCV000219726 RCV000302355 RCV000310534 RCV000340894 RCV000406161 RCV001705187 RCV003907789

NM_080680.3(COL11A2):c.1819-10G>A

SNV
Germline

Chr6:33178195

Conflicting classifications of pathogenicity

not specified
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Condition: not provided
Fibrochondrogenesis 2

Criteria Provided
Conflicting Classifications

CA3751180

rs_3129202

6 SubmittersRCV000219221 RCV001154508 RCV001154510 RCV001486639 RCV001154509

NM_080680.3(COL11A2):c.1612-10G>C

SNV
Germline

Chr6:33178983

Conflicting classifications of pathogenicity

not specified
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Fibrochondrogenesis 2
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Stickler Syndrome, Dominant
Connective tissue disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3751282

rs_182657680

9 SubmittersRCV000219751 RCV000389556 RCV000261045 RCV000374335 RCV000295481 RCV000659335 RCV001513105

NM_080680.3(COL11A2):c.752A>T (p.Gln251Leu)

SNV
Germline

Chr6:33186673

Conflicting classifications of pathogenicity

not specified
Stickler Syndrome, Dominant
Fibrochondrogenesis 2
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3751587

rs_201399429

3 SubmittersRCV000215858 RCV000278458 RCV000262918 RCV000372958 RCV000357558 RCV002517538

NM_080680.3(COL11A2):c.230C>A (p.Pro77Gln)

SNV
Germline

Chr6:33189322

Conflicting classifications of pathogenicity

not specified
Fibrochondrogenesis 2
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Stickler Syndrome, Dominant
Condition: not provided
Connective tissue disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3751735

rs_35765893

7 SubmittersRCV000214622 RCV000274718 RCV000385285 RCV000275901 RCV000333347 RCV001722140 RCV002277574 RCV003165522

NM_080680.3(COL11A2):c.5071-7C>G

SNV
Germline

Chr6:33163825

Conflicting classifications of pathogenicity

Otospondylomegaepiphyseal dysplasia, autosomal recessive
Fibrochondrogenesis 2
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Condition: not provided
COL11A2-related disorder

Criteria Provided
Conflicting Classifications

CA3749912

rs_200548977

6 SubmittersRCV001153348 RCV001153347 RCV001155958 RCV001421993 RCV003891980

NM_080680.3(COL11A2):c.4854C>G (p.Asp1618Glu)

SNV
Germline

Chr6:33164861

Conflicting classifications of pathogenicity

Otospondylomegaepiphyseal dysplasia, autosomal dominant
Nonsyndromic Hearing Loss, Dominant
Condition: not provided
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Stickler Syndrome, Dominant
Fibrochondrogenesis 1
Fibrochondrogenesis 2
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3749989

rs_151319255

7 SubmittersRCV000263619 RCV000274352 RCV000275678 RCV000374670 RCV000369185 RCV000331778 RCV001249267 RCV003165728

NM_080680.3(COL11A2):c.2300A>G (p.Glu767Gly)

SNV
Germline

Chr6:33175650

Conflicting classifications of pathogenicity

Condition: not provided
Fibrochondrogenesis 2
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Otospondylomegaepiphyseal dysplasia, autosomal recessive

Criteria Provided
Conflicting Classifications

CA3750958

rs_775641112

3 SubmittersRCV000296836 RCV001156809 RCV001156810 RCV001156808

NM_080680.3(COL11A2):c.4675C>T (p.Arg1559Trp)

SNV
Germline

Chr6:33165624

Conflicting classifications of pathogenicity

Stickler Syndrome, Dominant
Fibrochondrogenesis 2
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3750023

rs_370966667

4 SubmittersRCV000259748 RCV000316797 RCV000359864 RCV000356933 RCV000725854

NM_080680.3(COL11A2):c.4651C>T (p.Arg1551Trp)

SNV
Germline

Chr6:33165648

Conflicting classifications of pathogenicity

Fibrochondrogenesis 2
Stickler Syndrome, Dominant
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Condition: not provided
not specified
COL11A2-related disorder

Criteria Provided
Conflicting Classifications

CA3750029

rs_141254777

6 SubmittersRCV000294143 RCV000295270 RCV000352446 RCV000391825 RCV000766647 RCV000498284 RCV003401372

NM_080680.3(COL11A2):c.4586C>T (p.Pro1529Leu)

SNV
Germline

Chr6:33165713

Conflicting classifications of pathogenicity

Otospondylomegaepiphyseal dysplasia, autosomal dominant
Stickler Syndrome, Dominant
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Fibrochondrogenesis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3750047

rs_201315111

3 SubmittersRCV000297620 RCV000306065 RCV000354788 RCV000406272 RCV001553516

NM_080680.3(COL11A2):c.3654A>G (p.Ser1218=)

SNV
Germline

Chr6:33169867

Conflicting classifications of pathogenicity

Stickler Syndrome, Dominant
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Fibrochondrogenesis 2
not specified
COL11A2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3750420

rs_146962984

5 SubmittersRCV000325506 RCV000331502 RCV000366423 RCV000386057 RCV000605457 RCV003957835 RCV002058602

NM_080680.3(COL11A2):c.3328C>T (p.Pro1110Ser)

SNV
Germline

Chr6:33171152

Conflicting classifications of pathogenicity

Otospondylomegaepiphyseal dysplasia, autosomal dominant
Stickler Syndrome, Dominant
Fibrochondrogenesis 2
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3750551

rs_141164483

3 SubmittersRCV000260343 RCV000348277 RCV000355182 RCV000405447 RCV001580488

NM_080680.3(COL11A2):c.2848C>T (p.Pro950Ser)

SNV
Germline

Chr6:33172580

Conflicting classifications of pathogenicity

Otospondylomegaepiphyseal dysplasia, autosomal recessive
Stickler Syndrome, Dominant
Fibrochondrogenesis 2
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3750711

rs_768902062

3 SubmittersRCV000282164 RCV000283442 RCV000337227 RCV000391260 RCV001770281

NM_080680.3(COL11A2):c.1208C>T (p.Pro403Leu)

SNV
Germline

Chr6:33180977

Conflicting classifications of pathogenicity

Fibrochondrogenesis 2
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Stickler Syndrome, Dominant
Otospondylomegaepiphyseal dysplasia, autosomal recessive
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3751427

rs_201179101

4 SubmittersRCV000289243 RCV000330126 RCV000383614 RCV000388187 RCV000506175 RCV001584080

NM_080680.3(COL11A2):c.4951G>A (p.Val1651Ile)

SNV
Germline

Chr6:33164386

Conflicting classifications of pathogenicity

Stickler Syndrome, Dominant
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Fibrochondrogenesis 2
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3749945

rs_766589324

2 SubmittersRCV000292764 RCV000332746 RCV000374418 RCV000338427 RCV001850898

NM_080680.3(COL11A2):c.3092C>T (p.Pro1031Leu)

SNV
Germline

Chr6:33171771

Conflicting classifications of pathogenicity

Otospondylomegaepiphyseal dysplasia, autosomal recessive
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Fibrochondrogenesis 2
Stickler Syndrome, Dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3750643

rs_528009333

4 SubmittersRCV000274780 RCV000294955 RCV000317488 RCV000389201 RCV000596294

NM_080680.3(COL11A2):c.2182A>T (p.Ile728Phe)

SNV
Germline

Chr6:33176291

Conflicting classifications of pathogenicity

Stickler Syndrome, Dominant
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Fibrochondrogenesis 2
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3751010

rs_188490457

5 SubmittersRCV000276412 RCV000319359 RCV000333898 RCV000353689 RCV001559646 RCV000602277

NM_080680.3(COL11A2):c.453T>C (p.Arg151=)

SNV
Germline

Chr6:33188515

Conflicting classifications of pathogenicity

Fibrochondrogenesis 2
Stickler Syndrome, Dominant
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3751656

rs_147115504

2 SubmittersRCV000290354 RCV000304362 RCV000345336 RCV000390399 RCV002058606

NM_080680.3(COL11A2):c.*706G>T

SNV
Germline

Chr6:33162972

Conflicting classifications of pathogenicity

Fibrochondrogenesis 2
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Stickler Syndrome, Dominant

Criteria Provided
Conflicting Classifications

CA10626485

rs_548143581

1 SubmittersRCV000301827 RCV000305218 RCV000365271 RCV000403042

NM_080680.3(COL11A2):c.3725C>T (p.Ser1242Leu)

SNV
Germline

Chr6:33169456

Conflicting classifications of pathogenicity

Stickler Syndrome, Dominant
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Fibrochondrogenesis 2
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA3750387

rs_534570825

5 SubmittersRCV000280238 RCV000300075 RCV000408334 RCV000408369 RCV000657971 RCV002523565 RCV000609757

NM_080680.3(COL11A2):c.3267G>A (p.Val1089=)

SNV
Germline

Chr6:33171316

Conflicting classifications of pathogenicity

Otospondylomegaepiphyseal dysplasia, autosomal recessive
Fibrochondrogenesis 2
Stickler Syndrome, Dominant
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3750581

rs_781462105

2 SubmittersRCV000266996 RCV000291601 RCV000346715 RCV000381311 RCV002058603

NM_080680.3(COL11A2):c.2416C>T (p.Arg806Cys)

SNV
Germline

Chr6:33174541

Conflicting classifications of pathogenicity

Fibrochondrogenesis 2
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Stickler Syndrome, Dominant
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3750918

rs_376355040

2 SubmittersRCV000268237 RCV000303393 RCV000307051 RCV000360580 RCV002058604

NM_080680.3(COL11A2):c.2215-11A>G

SNV
Germline

Chr6:33176080

Conflicting classifications of pathogenicity

Otospondylomegaepiphyseal dysplasia, autosomal dominant
Stickler Syndrome, Dominant
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Fibrochondrogenesis 2

Criteria Provided
Conflicting Classifications

CA3750990

rs_557236389

1 SubmittersRCV000305033 RCV000340039 RCV000343499 RCV000391431

NM_080680.3(COL11A2):c.1818+15G>A

SNV
Germline

Chr6:33178293

Conflicting classifications of pathogenicity

Stickler Syndrome, Dominant
Fibrochondrogenesis 2
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3751191

rs_549588854

2 SubmittersRCV000263379 RCV000266997 RCV000324551 RCV000320843 RCV002524475

NM_080680.3(COL11A2):c.*822C>G

SNV
Germline

Chr6:33162856

Conflicting classifications of pathogenicity

Otospondylomegaepiphyseal dysplasia, autosomal dominant
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Fibrochondrogenesis 2
Stickler Syndrome, Dominant

Criteria Provided
Conflicting Classifications

CA10626641

rs_536130072

1 SubmittersRCV000335549 RCV000348721 RCV000374946 RCV000403286

NM_080680.3(COL11A2):c.3883G>A (p.Glu1295Lys)

SNV
Germline

Chr6:33168729

Conflicting classifications of pathogenicity

Otospondylomegaepiphyseal dysplasia, autosomal recessive
Stickler Syndrome, Dominant
Fibrochondrogenesis 2
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Condition: not provided
Autosomal recessive nonsyndromic hearing loss 53
Autosomal dominant nonsyndromic hearing loss 13
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Fibrochondrogenesis 2
Otospondylomegaepiphyseal dysplasia, autosomal dominant

Criteria Provided
Conflicting Classifications

CA3750325

rs_758507327

5 SubmittersRCV000264819 RCV000323351 RCV000322375 RCV000383939 RCV001850899 RCV002487566

NM_080680.3(COL11A2):c.3850C>T (p.Arg1284Trp)

SNV
Germline

Chr6:33168957

Conflicting classifications of pathogenicity

Fibrochondrogenesis 2
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Stickler Syndrome, Dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10626652

rs_886061315

3 SubmittersRCV000292046 RCV000293307 RCV000352855 RCV000382942 RCV001850900

NM_080680.3(COL11A2):c.2735T>C (p.Val912Ala)

SNV
Germline

Chr6:33173349

Conflicting classifications of pathogenicity

Otospondylomegaepiphyseal dysplasia, autosomal dominant
Stickler Syndrome, Dominant
Fibrochondrogenesis 2
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3750754

rs_548592690

3 SubmittersRCV000274611 RCV000309896 RCV000331935 RCV000366859 RCV001850901

NM_080680.3(COL11A2):c.2684G>C (p.Gly895Ala)

SNV
Germline

Chr6:33173400

Conflicting classifications of pathogenicity

Otospondylomegaepiphyseal dysplasia, autosomal recessive
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Fibrochondrogenesis 2
Stickler Syndrome, Dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3750764

rs_555936455

3 SubmittersRCV000290480 RCV000344614 RCV000379273 RCV000400234 RCV001538789

NM_080680.3(COL11A2):c.2271C>T (p.Gly757=)

SNV
Germline

Chr6:33175679

Conflicting classifications of pathogenicity

Stickler Syndrome, Dominant
Fibrochondrogenesis 2
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Connective tissue disorder
Condition: not provided
COL11A2-related disorder

Criteria Provided
Conflicting Classifications

CA3750960

rs_745568808

6 SubmittersRCV000278172 RCV000282672 RCV000335519 RCV000374777 RCV000680470 RCV001338547 RCV003957836

NM_080680.3(COL11A2):c.1381G>T (p.Gly461Cys)

SNV
Germline

Chr6:33179784

Conflicting classifications of pathogenicity

Stickler Syndrome, Dominant
Fibrochondrogenesis 2
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3751368

rs_764998691

3 SubmittersRCV000291185 RCV000346166 RCV000386159 RCV000350359 RCV001662334

NM_080680.3(COL11A2):c.5A>G (p.Glu2Gly)

SNV
Germline

Chr6:33192236

Conflicting classifications of pathogenicity

Fibrochondrogenesis 2
Stickler Syndrome, Dominant
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Condition: not provided
Autosomal dominant nonsyndromic hearing loss 13

Criteria Provided
Conflicting Classifications

CA3751773

rs_568840295

4 SubmittersRCV000289533 RCV000327462 RCV000384306 RCV000342251 RCV002461106 RCV003387834

NM_080680.3(COL11A2):c.3289A>C (p.Thr1097Pro)

SNV
Germline

Chr6:33171294

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant nonsyndromic hearing loss 13
Autosomal recessive nonsyndromic hearing loss 53
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Fibrochondrogenesis 2
Otospondylomegaepiphyseal dysplasia, autosomal recessive

Criteria Provided
Conflicting Classifications

CA3750574

rs_138045609

3 SubmittersRCV000437358 RCV000764646

NM_080680.3(COL11A2):c.3058C>T (p.Arg1020Ter)

SNV
Germline

Chr6:33171805

Pathogenic/Likely pathogenic

Condition: not provided
Autosomal recessive nonsyndromic hearing loss 53
Autosomal dominant nonsyndromic hearing loss 13
Fibrochondrogenesis 2
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Otospondylomegaepiphyseal dysplasia, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA16618279

rs_911722283

3 SubmittersRCV000487207 RCV002489177

NM_080680.3(COL11A2):c.587T>C (p.Leu196Pro)

SNV
Germline

Chr6:33188381

Conflicting classifications of pathogenicity

Condition: not provided
Otospondylomegaepiphyseal dysplasia, autosomal dominant
COL11A2-related disorder

Criteria Provided
Conflicting Classifications

CA3751631

rs_150982987

4 SubmittersRCV000521843 RCV000678343 RCV003960237

NM_080680.3(COL11A2):c.5088G>A (p.Thr1696=)

SNV
Germline

Chr6:33163801

Conflicting classifications of pathogenicity

not specified
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Fibrochondrogenesis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3749906

rs_142893093

4 SubmittersRCV000610002 RCV001152079 RCV001152080 RCV001152081 RCV001527817

NM_080680.3(COL11A2):c.5084G>A (p.Arg1695Gln)

SNV
Germline

Chr6:33163805

Conflicting classifications of pathogenicity

not specified
Fibrochondrogenesis 2
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3749908

rs_781633250

4 SubmittersRCV000615323 RCV001153346 RCV001152082 RCV001152083 RCV001662648

NM_080680.3(COL11A2):c.-21C>G

SNV
Germline

Chr6:33192261

Conflicting classifications of pathogenicity

not specified
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Fibrochondrogenesis 2
Otospondylomegaepiphyseal dysplasia, autosomal dominant

Criteria Provided
Conflicting Classifications

CA3751776

rs_767695417

2 SubmittersRCV000600073 RCV001155744 RCV001155746 RCV001155745

NM_080680.3(COL11A2):c.2709G>A (p.Pro903=)

SNV
Germline

Chr6:33173375

Conflicting classifications of pathogenicity

Otospondylomegaepiphyseal dysplasia, autosomal recessive
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Fibrochondrogenesis 2
Condition: not provided
COL11A2-related disorder

Criteria Provided
Conflicting Classifications

CA3750756

rs_779878105

4 SubmittersRCV001156605 RCV001156603 RCV001156604 RCV001698018 RCV003962793

NM_080680.3(COL11A2):c.2220G>A (p.Glu740=)

SNV
Germline

Chr6:33176064

Conflicting classifications of pathogenicity

Connective tissue disorder
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Fibrochondrogenesis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_202032297

3 SubmittersRCV000659338 RCV001151380 RCV001151381 RCV001151382 RCV002534314

NM_080680.3(COL11A2):c.628A>G (p.Ile210Val)

SNV
Germline

Chr6:33186797

Conflicting classifications of pathogenicity

Otospondylomegaepiphyseal dysplasia, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_778295133

2 SubmittersRCV000660491 RCV001294751

NM_080680.3(COL11A2):c.2254G>A (p.Val752Met)

SNV
Germline

Chr6:33176030

Conflicting classifications of pathogenicity

Connective tissue disorder
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Fibrochondrogenesis 2
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

rs_201076557

6 SubmittersRCV000680471 RCV001151378 RCV001151379 RCV001151377 RCV001475501 RCV002298737

NM_080680.3(COL11A2):c.579C>T (p.Ala193=)

SNV
Germline

Chr6:33188389

Conflicting classifications of pathogenicity

Condition: not provided
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Fibrochondrogenesis 2
Otospondylomegaepiphyseal dysplasia, autosomal dominant
COL11A2-related disorder

Criteria Provided
Conflicting Classifications

rs_201054429

4 SubmittersRCV000841577 RCV001155657 RCV001155658 RCV001157334 RCV003965626

NM_080680.3(COL11A2):c.4465G>A (p.Gly1489Ser)

SNV
Unknown

Chr6:33165948

Pathogenic

Otospondylomegaepiphyseal dysplasia, autosomal dominant

Criteria Provided
Single Submitter

rs_1583287711

1 SubmittersRCV000856785

NM_001844.5(COL2A1):c.3714C>A (p.Tyr1238Ter)

SNV
Unknown

Chr12:47975489

Pathogenic

Otospondylomegaepiphyseal dysplasia, autosomal dominant

Criteria Provided
Single Submitter

rs_1481453913

1 SubmittersRCV000856777

NM_001844.5(COL2A1):c.1129G>A (p.Ala377Thr)

SNV
Unknown

Chr12:47987703

Pathogenic

Otospondylomegaepiphyseal dysplasia, autosomal dominant

Criteria Provided
Single Submitter

rs_1045330263

1 SubmittersRCV000856812

NM_080680.3(COL11A2):c.1698C>T (p.Leu566=)

SNV
Germline

Chr6:33178700

Conflicting classifications of pathogenicity

Condition: not provided
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Fibrochondrogenesis 2
Otospondylomegaepiphyseal dysplasia, autosomal dominant
COL11A2-related disorder

Criteria Provided
Conflicting Classifications

rs_139350991

5 SubmittersRCV000998579 RCV001151600 RCV001157017 RCV001157018 RCV003953413

NM_080680.3(COL11A2):c.4983C>T (p.Asp1661=)

SNV
Germline

Chr6:33164354

Conflicting classifications of pathogenicity

Fibrochondrogenesis 2
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_528251146

2 SubmittersRCV001155961 RCV001155959 RCV001155960 RCV002070919

NM_080680.3(COL11A2):c.4706G>A (p.Arg1569His)

SNV
Germline

Chr6:33165593

Conflicting classifications of pathogenicity

Fibrochondrogenesis 2
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_749716412

3 SubmittersRCV001156078 RCV001156076 RCV001156077 RCV002032438

NM_080680.3(COL11A2):c.4228A>G (p.Lys1410Glu)

SNV
Germline

Chr6:33167072

Conflicting classifications of pathogenicity

Fibrochondrogenesis 2
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_780158388

2 SubmittersRCV001152394 RCV001152396 RCV001152395 RCV003558720

NM_080680.3(COL11A2):c.3706C>T (p.Arg1236Cys)

SNV
Germline

Chr6:33169475

Conflicting classifications of pathogenicity

Otospondylomegaepiphyseal dysplasia, autosomal recessive
Condition: not provided
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Fibrochondrogenesis 2
Complete trisomy 21 syndrome

Criteria Provided
Conflicting Classifications

rs_751612997

4 SubmittersRCV001158060 RCV001346855 RCV001158059 RCV001158061 RCV001375154

NM_080680.3(COL11A2):c.2676A>T (p.Gly892=)

SNV
Germline

Chr6:33173508

Conflicting classifications of pathogenicity

Fibrochondrogenesis 2
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1405058032

2 SubmittersRCV001155038 RCV001155039 RCV001155040 RCV001882483

NM_080680.3(COL11A2):c.1714C>A (p.His572Asn)

SNV
Germline

Chr6:33178684

Conflicting classifications of pathogenicity

Otospondylomegaepiphyseal dysplasia, autosomal dominant
Fibrochondrogenesis 2
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_751888761

4 SubmittersRCV001157015 RCV001157014 RCV001157016 RCV001759912 RCV004032823

NM_080680.3(COL11A2):c.622C>T (p.Leu208=)

SNV
Germline

Chr6:33186803

Conflicting classifications of pathogenicity

Fibrochondrogenesis 2
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_200272494

6 SubmittersRCV001155655 RCV001155654 RCV001155656 RCV001579994

NM_080680.3(COL11A2):c.222G>A (p.Gln74=)

SNV
Germline

Chr6:33189330

Conflicting classifications of pathogenicity

Fibrochondrogenesis 2
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1772815896

2 SubmittersRCV001151891 RCV001151892 RCV001151893 RCV002557280

NM_080680.3(COL11A2):c.191G>A (p.Arg64Gln)

SNV
Germline

Chr6:33189361

Conflicting classifications of pathogenicity

Fibrochondrogenesis 2
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_374898022

2 SubmittersRCV001153142 RCV001153143 RCV001153144 RCV002070864

NM_080680.3(COL11A2):c.-82C>G

SNV
Germline

Chr6:33192322

Conflicting classifications of pathogenicity

Otospondylomegaepiphyseal dysplasia, autosomal dominant
Fibrochondrogenesis 2
Otospondylomegaepiphyseal dysplasia, autosomal recessive

Criteria Provided
Conflicting Classifications

rs_539232957

1 SubmittersRCV001157453 RCV001157452 RCV001157451

NM_080680.3(COL11A2):c.4751-12C>G

SNV
Germline

Chr6:33164976

Conflicting classifications of pathogenicity

Otospondylomegaepiphyseal dysplasia, autosomal recessive
Fibrochondrogenesis 2
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_921581176

3 SubmittersRCV001156073 RCV001156074 RCV001156075 RCV001577226

NM_080680.3(COL11A2):c.4231-4C>G

SNV
Germline

Chr6:33166831

Conflicting classifications of pathogenicity

Otospondylomegaepiphyseal dysplasia, autosomal recessive
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Fibrochondrogenesis 2

Criteria Provided
Conflicting Classifications

rs_564087840

1 SubmittersRCV001152391 RCV001152392 RCV001152393

NM_080680.3(COL11A2):c.3150+7G>T

SNV
Germline

Chr6:33171706

Conflicting classifications of pathogenicity

Otospondylomegaepiphyseal dysplasia, autosomal dominant
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Fibrochondrogenesis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1327272043

2 SubmittersRCV001152809 RCV001158289 RCV001158290 RCV002070860

NM_080680.3(COL11A2):c.2530-4G>A

SNV
Germline

Chr6:33173930

Conflicting classifications of pathogenicity

Fibrochondrogenesis 2
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_891664323

2 SubmittersRCV001151248 RCV001151246 RCV001151247 RCV003558718

NM_080680.3(COL11A2):c.2431-4C>T

SNV
Germline

Chr6:33174222

Conflicting classifications of pathogenicity

Fibrochondrogenesis 2
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1457746213

2 SubmittersRCV001154316 RCV001154318 RCV001154317 RCV001882481

NM_080680.3(COL11A2):c.3697C>T (p.Arg1233Cys)

SNV
Germline

Chr6:33169484

Conflicting classifications of pathogenicity

Otospondylomegaepiphyseal dysplasia, autosomal recessive
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_780613380

3 SubmittersRCV001332797 RCV001751648

NM_080680.3(COL11A2):c.3080G>A (p.Gly1027Glu)

SNV
Germline

Chr6:33171783

Likely pathogenic

Otospondylomegaepiphyseal dysplasia, autosomal recessive

Criteria Provided
Single Submitter

rs_2150548120

1 SubmittersRCV001809326

NM_080680.3(COL11A2):c.1726A>G (p.Thr576Ala)

SNV
Germline

Chr6:33178482

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal recessive nonsyndromic hearing loss 53
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Autosomal dominant nonsyndromic hearing loss 13
Fibrochondrogenesis 2
Otospondylomegaepiphyseal dysplasia, autosomal dominant

Criteria Provided
Conflicting Classifications

rs_779116250

3 SubmittersRCV002032090 RCV002486792

NM_080680.3(COL11A2):c.5102G>A (p.Arg1701Gln)

SNV
Germline

Chr6:33163787

Conflicting classifications of pathogenicity

Condition: not provided
Otospondylomegaepiphyseal dysplasia, autosomal recessive

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002603778 RCV003340636

NM_080680.3(COL11A2):c.1672C>T (p.Arg558Ter)

SNV
Germline