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 COL11A2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA281687	rs_750995470	4 SubmittersRCV000018657 RCV001659702 RCV006704485
NM_080680.3(COL11A2):c.1981G>A (p.Gly661Arg)	SNV Germline	Chr6:33177216	Conflicting classifications of pathogenicity	Otospondylomegaepiphyseal dysplasia, autosomal recessive Condition: not provided COL11A2-related disorder	Criteria Provided Conflicting Classifications	CA127087	rs_121912945	4 SubmittersRCV000018658 RCV001851920 RCV005237391
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.3100C>T (p.Arg1034Cys)	SNV Germline	Chr6:33171763	Pathogenic/Likely pathogenic	Autosomal dominant nonsyndromic hearing loss 13 Rare genetic deafness Condition: not provided COL11A2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA257707	rs_121912947	7 SubmittersRCV000018662 RCV000605765 RCV001091818 RCV003398542
NM_080680.3(COL11A2):c.2423G>A (p.Gly808Glu)	SNV Germline	Chr6:33174534	Pathogenic	Autosomal dominant nonsyndromic hearing loss 13	No Assertion Criteria Provided	CA257711	rs_121912948	1 SubmittersRCV000018663
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 COL11A2-related disorder Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA281690	rs_121912950	8 SubmittersRCV000018665 RCV000761299 RCV001268065 RCV004748528 RCV006342077
NM_080680.3(COL11A2):c.3991C>T (p.Arg1331Ter)	SNV Germline	Chr6:33167822	Pathogenic	Otospondylomegaepiphyseal dysplasia, autosomal recessive Condition: not provided Otospondylomegaepiphyseal dysplasia, autosomal dominant Otospondylomegaepiphyseal dysplasia, autosomal recessive Autosomal dominant nonsyndromic hearing loss 13 Fibrochondrogenesis 2 Autosomal recessive nonsyndromic hearing loss 53	Criteria Provided Multiple Submitters No Conflicts	CA127099	rs_121912951	4 SubmittersRCV000018666 RCV002513107 RCV002496405
NM_080680.3(COL11A2):c.1861C>A (p.Pro621Thr)	SNV Germline	Chr6:33178143	Conflicting classifications of pathogenicity	Autosomal recessive nonsyndromic hearing loss 53 not specified Condition: not provided Hearing impairment Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive Autosomal recessive nonsyndromic hearing loss 53 Otospondylomegaepiphyseal dysplasia, autosomal dominant Fibrochondrogenesis 2 Autosomal dominant nonsyndromic hearing loss 13	Criteria Provided Conflicting Classifications	CA212599	rs_121912952	9 SubmittersRCV000018667 RCV000217775 RCV000584845 RCV001375391 RCV004791228 RCV005042063
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 Connective tissue disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA138614	rs_145499142	12 SubmittersRCV000039826 RCV000268570 RCV000305029 RCV000659336 RCV000709864
NM_080680.3(COL11A2):c.109G>T (p.Ala37Ser)	SNV Germline	Chr6:33189443	Pathogenic	Nonsyndromic Deafness Autosomal recessive nonsyndromic hearing loss 53 Condition: not provided	Criteria Provided Single Submitter	CA212610	rs_606231410	3 SubmittersRCV000148342 RCV000202598 RCV003556192
NM_080680.3(COL11A2):c.4683A>G (p.Thr1561=)	SNV Germline	Chr6:33165616	Conflicting classifications of pathogenicity	not specified Otospondylomegaepiphyseal dysplasia, autosomal recessive Fibrochondrogenesis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA175557	rs_34055850	9 SubmittersRCV000150347 RCV000299642 RCV000404657 RCV001521033
NM_080680.3(COL11A2):c.4495G>A (p.Glu1499Lys)	SNV Germline	Chr6:33165804	Conflicting classifications of pathogenicity	not specified Condition: not provided COL11A2-related disorder	Criteria Provided Conflicting Classifications	CA183320	rs_727504543	4 SubmittersRCV000155698 RCV000766448 RCV004545749
NM_080680.3(COL11A2):c.3932A>G (p.Asn1311Ser)	SNV Germline	Chr6:33168547	Conflicting classifications of pathogenicity	not specified Otospondylomegaepiphyseal dysplasia, autosomal recessive Fibrochondrogenesis 2 Autosomal dominant nonsyndromic hearing loss 13 COL11A2-related disorder Condition: not provided Autosomal dominant nonsyndromic hearing loss 13 Otospondylomegaepiphyseal dysplasia, autosomal dominant Autosomal recessive nonsyndromic hearing loss 53 Otospondylomegaepiphyseal dysplasia, autosomal recessive Fibrochondrogenesis 2	Criteria Provided Conflicting Classifications	CA183082	rs_727504460	9 SubmittersRCV000155584 RCV000261111 RCV000353712 RCV000477787 RCV003907479 RCV001651028 RCV005394529
NM_080680.3(COL11A2):c.3616C>T (p.Leu1206=)	SNV Germline	Chr6:33170067	Conflicting classifications of pathogenicity	not specified Otospondylomegaepiphyseal dysplasia, autosomal recessive Fibrochondrogenesis 2 Condition: not provided COL11A2-related disorder	Criteria Provided Conflicting Classifications	CA182113	rs_147576338	7 SubmittersRCV000155069 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 Connective tissue disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA182115	rs_138380958	10 SubmittersRCV000155070 RCV000261044 RCV000369862 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.2186G>A (p.Arg729Gln)	SNV Germline	Chr6:33176287	Conflicting classifications of pathogenicity	not specified Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive Condition: not provided Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal dominant Otospondylomegaepiphyseal dysplasia, autosomal recessive Autosomal recessive nonsyndromic hearing loss 53 Autosomal dominant nonsyndromic hearing loss 13 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA175569	rs_61730262	9 SubmittersRCV000150354 RCV000311596 RCV000365079 RCV001519340 RCV002505143 RCV005801743
NM_080680.3(COL11A2):c.1287C>T (p.Gly429=)	SNV Germline	Chr6:33180330	Conflicting classifications of pathogenicity	not specified Otospondylomegaepiphyseal dysplasia, autosomal recessive Fibrochondrogenesis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA175571	rs_549704545	6 SubmittersRCV000150355 RCV000263155 RCV000333620 RCV001552633
NM_080680.3(COL11A2):c.5000G>A (p.Arg1667His)	SNV Germline	Chr6:33164337	Conflicting classifications of pathogenicity	not specified Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive Condition: not provided Connective tissue disorder Autosomal recessive nonsyndromic hearing loss 53	Criteria Provided Conflicting Classifications	CA182105	rs_146555195	11 SubmittersRCV000155065 RCV000271332 RCV000326882 RCV000427587 RCV000680464 RCV001804866
NM_080680.3(COL11A2):c.4863+7G>A	SNV Germline	Chr6:33164845	Conflicting classifications of pathogenicity	not specified Condition: not provided COL11A2-related disorder	Criteria Provided Conflicting Classifications	CA183322	rs_200947059	8 SubmittersRCV000155699 RCV000724273 RCV003907480
NM_080680.3(COL11A2):c.4705C>T (p.Arg1569Cys)	SNV Germline	Chr6:33165594	Conflicting classifications of pathogenicity	not specified Condition: not provided Inborn genetic diseases Otospondylomegaepiphyseal dysplasia, autosomal recessive Otospondylomegaepiphyseal dysplasia, autosomal dominant Fibrochondrogenesis 2 Autosomal recessive nonsyndromic hearing loss 53 Autosomal dominant nonsyndromic hearing loss 13	Criteria Provided Conflicting Classifications	CA182788	rs_727504458	5 SubmittersRCV000155445 RCV000766673 RCV002516131 RCV005042304
NM_080680.3(COL11A2):c.4040C>A (p.Pro1347Gln)	SNV Germline	Chr6:33167508	Conflicting classifications of pathogenicity	not specified Otospondylomegaepiphyseal dysplasia, autosomal recessive Otospondylomegaepiphyseal dysplasia, autosomal dominant Fibrochondrogenesis 2 Autosomal recessive nonsyndromic hearing loss 53 Autosomal dominant nonsyndromic hearing loss 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA175561	rs_142890313	5 SubmittersRCV000150349 RCV000764645 RCV001560335
NM_080680.3(COL11A2):c.3878G>A (p.Arg1293Gln)	SNV Germline	Chr6:33168734	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA184316	rs_727504832	3 SubmittersRCV000156172 RCV001582632
NM_080680.3(COL11A2):c.3622C>T (p.Pro1208Ser)	SNV Germline	Chr6:33170061	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA182111	rs_374515005	5 SubmittersRCV000155068 RCV000766988
NM_080680.3(COL11A2):c.3583-3C>T	SNV Germline	Chr6:33170103	Conflicting classifications of pathogenicity	not specified Condition: not provided COL11A2-related disorder	Criteria Provided Conflicting Classifications	CA175563	rs_727502939	4 SubmittersRCV000150350 RCV001719930 RCV003895034
NM_080680.3(COL11A2):c.2921C>T (p.Ala974Val)	SNV Germline	Chr6:33172356	Conflicting classifications of pathogenicity	not specified Connective tissue disorder Otospondylomegaepiphyseal dysplasia, autosomal recessive Otospondylomegaepiphyseal dysplasia, autosomal dominant Fibrochondrogenesis 2 Autosomal recessive nonsyndromic hearing loss 53 Autosomal dominant nonsyndromic hearing loss 13 Otospondylomegaepiphyseal dysplasia, autosomal recessive Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA183327	rs_376797260	6 SubmittersRCV000155702 RCV000680469 RCV000709936 RCV001154084 RCV001154083 RCV001154085 RCV001537799
NM_080680.3(COL11A2):c.1427C>T (p.Ala476Val)	SNV Germline	Chr6:33179738	Conflicting classifications of pathogenicity	not specified Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA184243	rs_373983482	3 SubmittersRCV000156136 RCV002056112 RCV005532589
NM_080680.3(COL11A2):c.1607G>A (p.Arg536Gln)	SNV Germline	Chr6:33179077	Conflicting classifications of pathogenicity	Larsen-like syndrome, B3GAT3 type Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA236250	rs_770888294	4 SubmittersRCV000171392 RCV000998580 RCV004700527
NM_080680.3(COL11A2):c.654T>A (p.Tyr218Ter)	SNV Germline	Chr6:33186771	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA236252	rs_786205578	1 SubmittersRCV000171393
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 COL11A2-related disorder Hearing impairment	Criteria Provided Conflicting Classifications	CA240966	rs_199866657	10 SubmittersRCV000175243 RCV001151604 RCV001151605 RCV001154613 RCV002516668 RCV004748624 RCV005625370
NM_080680.3(COL11A2):c.2017-5T>G	SNV Germline	Chr6:33177050	Conflicting classifications of pathogenicity	not specified Condition: not provided Connective tissue disorder COL11A2-related disorder	Criteria Provided Conflicting Classifications	CA242579	rs_200523422	7 SubmittersRCV000222871 RCV000418538 RCV002277379 RCV003977437
NM_080680.3(COL11A2):c.480T>G (p.Ser160=)	SNV Germline	Chr6:33188488	Conflicting classifications of pathogenicity	not specified Condition: not provided COL11A2-related disorder	Criteria Provided Conflicting Classifications	CA245463	rs_142969513	7 SubmittersRCV000178380 RCV000724443 RCV003967430
NM_080680.3(COL11A2):c.4652G>A (p.Arg1551Gln)	SNV Germline	Chr6:33165647	Conflicting classifications of pathogenicity	not specified Otospondylomegaepiphyseal dysplasia, autosomal recessive Fibrochondrogenesis 2 Condition: not provided COL11A2-related disorder	Criteria Provided Conflicting Classifications	CA246924	rs_145343609	8 SubmittersRCV000218581 RCV000328722 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 recessive Otospondylomegaepiphyseal dysplasia, autosomal dominant	Criteria Provided Conflicting Classifications	CA246955	rs_140017436	4 SubmittersRCV000724553 RCV001157662 RCV001157660 RCV001157661
NM_080680.3(COL11A2):c.889G>A (p.Gly297Ser)	SNV Germline	Chr6:33185042	Conflicting classifications of pathogenicity	not specified Otospondylomegaepiphyseal dysplasia, autosomal dominant Condition: not provided Autosomal dominant nonsyndromic hearing loss 13 Otospondylomegaepiphyseal dysplasia, autosomal dominant Autosomal recessive nonsyndromic hearing loss 53 Otospondylomegaepiphyseal dysplasia, autosomal recessive Fibrochondrogenesis 2 Autosomal dominant nonsyndromic hearing loss 13 Connective tissue disorder COL11A2-related disorder Nonsyndromic genetic hearing loss	Criteria Provided Conflicting Classifications	CA247358	rs_139116571	10 SubmittersRCV000223442 RCV000678342 RCV000724260 RCV000764647 RCV001253705 RCV002277425 RCV004748639 RCV005361084
NM_080680.3(COL11A2):c.2268+1G>T	SNV Germline	Chr6:33176015	Likely pathogenic	Inborn genetic diseases	Criteria Provided Single Submitter	CA204779	rs_797044915	1 SubmittersRCV000190748
NM_080680.3(COL11A2):c.2662C>A (p.Pro888Thr)	SNV Germline	Chr6:33173522	Pathogenic	Autosomal recessive nonsyndromic hearing loss 53	No Assertion Criteria Provided	CA248587	rs_864309523	1 SubmittersRCV000202578
NM_080680.3(COL11A2):c.688G>T (p.Gly230Trp)	SNV Germline	Chr6:33186737	Conflicting classifications of pathogenicity	not specified Otospondylomegaepiphyseal dysplasia, autosomal recessive Fibrochondrogenesis 2 Autosomal dominant nonsyndromic hearing loss 13 Autosomal recessive nonsyndromic hearing loss 53 Condition: not provided Connective tissue disorder COL11A2-related disorder	Criteria Provided Conflicting Classifications	CA3751596	rs_141430703	10 SubmittersRCV000217677 RCV000348697 RCV000393362 RCV000490461 RCV001510421 RCV002277571 RCV003947688
NM_080680.3(COL11A2):c.4786C>T (p.Arg1596Trp)	SNV Germline	Chr6:33164929	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA3749995	rs_778962979	2 SubmittersRCV000223577 RCV003727636
NM_080680.3(COL11A2):c.4751-9A>G	SNV Germline	Chr6:33164973	Conflicting classifications of pathogenicity	not specified Otospondylomegaepiphyseal dysplasia, autosomal recessive Fibrochondrogenesis 2 Condition: not provided Connective tissue disorder COL11A2-related disorder	Criteria Provided Conflicting Classifications	CA3749999	rs_555680585	6 SubmittersRCV000222702 RCV000284515 RCV000345137 RCV000840675 RCV002277577 RCV003929887
NM_080680.3(COL11A2):c.4559G>A (p.Arg1520His)	SNV Germline	Chr6:33165740	Conflicting classifications of pathogenicity	not specified 9 conditions Condition: not provided	Criteria Provided Conflicting Classifications	CA3750050	rs_772567850	3 SubmittersRCV000214943 RCV000414801 RCV001853439
NM_080680.3(COL11A2):c.4383C>T (p.Pro1461=)	SNV Germline	Chr6:33166522	Conflicting classifications of pathogenicity	not specified Otospondylomegaepiphyseal dysplasia, autosomal recessive Fibrochondrogenesis 2 Condition: not provided COL11A2-related disorder	Criteria Provided Conflicting Classifications	CA3750117	rs_148262058	6 SubmittersRCV000219726 RCV000340894 RCV000302355 RCV001705187 RCV003907789
NM_080680.3(COL11A2):c.4291C>T (p.Arg1431Trp)	SNV Germline	Chr6:33166767	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA3750147	rs_369126897	4 SubmittersRCV000222003 RCV000727342
NM_080680.3(COL11A2):c.3529-3C>T	SNV Germline	Chr6:33170382	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA3750464	rs_753183777	3 SubmittersRCV000221943 RCV001567032
NM_080680.3(COL11A2):c.1880G>A (p.Arg627Gln)	SNV Germline	Chr6:33177699	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA3751141	rs_528989984	3 SubmittersRCV000221653 RCV001589125
NM_080680.3(COL11A2):c.1819-10G>A	SNV Germline	Chr6:33178195	Conflicting classifications of pathogenicity	not specified Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal dominant Otospondylomegaepiphyseal dysplasia, autosomal recessive Condition: not provided	Criteria Provided Conflicting Classifications	CA3751180	rs_3129202	6 SubmittersRCV000219221 RCV001154509 RCV001154508 RCV001154510 RCV001486639
NM_080680.3(COL11A2):c.1612-10G>C	SNV Germline	Chr6:33178983	Conflicting classifications of pathogenicity	not specified Otospondylomegaepiphyseal dysplasia, autosomal recessive Fibrochondrogenesis 2 Connective tissue disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA3751282	rs_182657680	9 SubmittersRCV000219751 RCV000374335 RCV000261045 RCV000659335 RCV001513105
NM_080680.3(COL11A2):c.1489C>T (p.Arg497Cys)	SNV Germline	Chr6:33179445	Conflicting classifications of pathogenicity	not specified Condition: not provided Inborn genetic diseases COL11A2-related disorder	Criteria Provided Conflicting Classifications	CA3751339	rs_752552097	5 SubmittersRCV000213887 RCV001589124 RCV004020613 RCV004748662
NM_080680.3(COL11A2):c.1119+1G>C	SNV Germline	Chr6:33184144	Conflicting classifications of pathogenicity	not specified COL11A2-related disorder	Criteria Provided Conflicting Classifications	CA10576688	rs_367706373	2 SubmittersRCV000220795 RCV003417774
NM_080680.3(COL11A2):c.854C>T (p.Thr285Met)	SNV Germline	Chr6:33185723	Conflicting classifications of pathogenicity	not specified Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3751545	rs_747064765	4 SubmittersRCV000218516 RCV001658016 RCV005318350
NM_080680.3(COL11A2):c.752A>T (p.Gln251Leu)	SNV Germline	Chr6:33186673	Conflicting classifications of pathogenicity	not specified Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive Condition: not provided	Criteria Provided Conflicting Classifications	CA3751587	rs_201399429	3 SubmittersRCV000215858 RCV000262918 RCV000372958 RCV002517538
NM_080680.3(COL11A2):c.517C>T (p.Arg173Trp)	SNV Germline	Chr6:33188451	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA3751646	rs_146522169	4 SubmittersRCV000215299 RCV000711213
NM_080680.3(COL11A2):c.233-8G>T	SNV Germline	Chr6:33189196	Conflicting classifications of pathogenicity	not specified Condition: not provided COL11A2-related disorder	Criteria Provided Conflicting Classifications	CA3751709	rs_375268140	6 SubmittersRCV000214662 RCV000727445 RCV003955271
NM_080680.3(COL11A2):c.230C>A (p.Pro77Gln)	SNV Germline	Chr6:33189322	Conflicting classifications of pathogenicity	not specified Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive Condition: not provided Connective tissue disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3751735	rs_35765893	8 SubmittersRCV000214622 RCV000274718 RCV000275901 RCV001722140 RCV002277574 RCV003165522
NM_080680.3(COL11A2):c.5071-7C>G	SNV Germline	Chr6:33163825	Conflicting classifications of pathogenicity	Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive Otospondylomegaepiphyseal dysplasia, autosomal dominant Condition: not provided COL11A2-related disorder not specified	Criteria Provided Conflicting Classifications	CA3749912	rs_200548977	7 SubmittersRCV001153347 RCV001153348 RCV001155958 RCV001421993 RCV003891980 RCV005406994
NM_080680.3(COL11A2):c.4854C>G (p.Asp1618Glu)	SNV Germline	Chr6:33164861	Conflicting classifications of pathogenicity	Condition: not provided Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive Otospondylomegaepiphyseal dysplasia, autosomal dominant Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA3749989	rs_151319255	8 SubmittersRCV000275678 RCV001249267 RCV003165728 RCV005238824
NM_080680.3(COL11A2):c.1382G>A (p.Gly461Asp)	SNV Germline	Chr6:33179783	Conflicting classifications of pathogenicity	not specified Connective tissue disorder Condition: not provided Hearing impairment	Criteria Provided Conflicting Classifications	CA3751367	rs_141140798	7 SubmittersRCV000281273 RCV000659333 RCV000725559 RCV001375359
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	Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive Condition: not provided	Criteria Provided Conflicting Classifications	CA3750023	rs_370966667	4 SubmittersRCV000316797 RCV000359864 RCV000725854
NM_080680.3(COL11A2):c.3352C>A (p.Gln1118Lys)	SNV Germline	Chr6:33171128	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA10605498	rs_369849667	3 SubmittersRCV000353277
NM_080680.3(COL11A2):c.1298G>A (p.Arg433Gln)	SNV Germline	Chr6:33180319	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3751387	rs_762813373	3 SubmittersRCV000362511
NM_080680.3(COL11A2):c.3325C>T (p.Pro1109Ser)	SNV Germline	Chr6:33171155	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3750555	rs_761687232	2 SubmittersRCV000332262
NM_080680.3(COL11A2):c.4149A>G (p.Thr1383=)	SNV Germline	Chr6:33167291	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3750206	rs_746019545	2 SubmittersRCV000394359
NM_080680.3(COL11A2):c.2536C>T (p.Arg846Trp)	SNV Germline	Chr6:33173920	Conflicting classifications of pathogenicity	Condition: not provided not specified Autosomal dominant nonsyndromic hearing loss 13 Otospondylomegaepiphyseal dysplasia, autosomal recessive Otospondylomegaepiphyseal dysplasia, autosomal dominant Fibrochondrogenesis 2 Autosomal recessive nonsyndromic hearing loss 53	Criteria Provided Conflicting Classifications	CA3750850	rs_149071920	5 SubmittersRCV000290535 RCV001731566 RCV005031866
NM_080680.3(COL11A2):c.4767C>T (p.Asp1589=)	SNV Germline	Chr6:33164948	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA10606444	rs_886044178	2 SubmittersRCV000405179
NM_080680.3(COL11A2):c.3182G>A (p.Arg1061Gln)	SNV Germline	Chr6:33171543	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3750609	rs_528982644	3 SubmittersRCV000400579
NM_080680.3(COL11A2):c.5106G>A (p.Thr1702=)	SNV Germline	Chr6:33163783	Conflicting classifications of pathogenicity	not specified Condition: not provided COL11A2-related disorder	Criteria Provided Conflicting Classifications	CA3749903	rs_752823488	5 SubmittersRCV000314761 RCV000726587 RCV003957525
NM_080680.3(COL11A2):c.4651C>T (p.Arg1551Trp)	SNV Germline	Chr6:33165648	Conflicting classifications of pathogenicity	Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive not specified Condition: not provided COL11A2-related disorder	Criteria Provided Conflicting Classifications	CA3750029	rs_141254777	7 SubmittersRCV000294143 RCV000391825 RCV000498284 RCV000766647 RCV003401372
NM_080680.3(COL11A2):c.4586C>T (p.Pro1529Leu)	SNV Germline	Chr6:33165713	Conflicting classifications of pathogenicity	Otospondylomegaepiphyseal dysplasia, autosomal recessive Fibrochondrogenesis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA3750047	rs_201315111	3 SubmittersRCV000354788 RCV000406272 RCV001553516
NM_080680.3(COL11A2):c.3654A>G (p.Ser1218=)	SNV Germline	Chr6:33169867	Conflicting classifications of pathogenicity	Otospondylomegaepiphyseal dysplasia, autosomal recessive Fibrochondrogenesis 2 not specified Condition: not provided COL11A2-related disorder	Criteria Provided Conflicting Classifications	CA3750420	rs_146962984	6 SubmittersRCV000331502 RCV000386057 RCV000605457 RCV002058602 RCV003957835
NM_080680.3(COL11A2):c.3328C>T (p.Pro1110Ser)	SNV Germline	Chr6:33171152	Conflicting classifications of pathogenicity	Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive Condition: not provided	Criteria Provided Conflicting Classifications	CA3750551	rs_141164483	4 SubmittersRCV000355182 RCV000405447 RCV001580488
NM_080680.3(COL11A2):c.2848C>T (p.Pro950Ser)	SNV Germline	Chr6:33172580	Conflicting classifications of pathogenicity	Otospondylomegaepiphyseal dysplasia, autosomal recessive Fibrochondrogenesis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA3750711	rs_768902062	3 SubmittersRCV000282164 RCV000337227 RCV001770281
NM_080680.3(COL11A2):c.1208C>T (p.Pro403Leu)	SNV Germline	Chr6:33180977	Conflicting classifications of pathogenicity	Condition: not provided Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive not specified	Criteria Provided Conflicting Classifications	CA3751427	rs_201179101	5 SubmittersRCV001584080 RCV000289243 RCV000388187 RCV000506175
NM_080680.3(COL11A2):c.4951G>A (p.Val1651Ile)	SNV Germline	Chr6:33164386	Conflicting classifications of pathogenicity	Otospondylomegaepiphyseal dysplasia, autosomal recessive Fibrochondrogenesis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA3749945	rs_766589324	2 SubmittersRCV000338427 RCV000374418 RCV001850898
NM_080680.3(COL11A2):c.3092C>T (p.Pro1031Leu)	SNV Germline	Chr6:33171771	Conflicting classifications of pathogenicity	Otospondylomegaepiphyseal dysplasia, autosomal recessive Fibrochondrogenesis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA3750643	rs_528009333	4 SubmittersRCV000274780 RCV000317488 RCV000596294
NM_080680.3(COL11A2):c.2182A>T (p.Ile728Phe)	SNV Germline	Chr6:33176291	Conflicting classifications of pathogenicity	Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive not specified Condition: not provided COL11A2-related disorder	Criteria Provided Conflicting Classifications	CA3751010	rs_188490457	6 SubmittersRCV000333898 RCV000353689 RCV000602277 RCV001559646 RCV004748743
NM_080680.3(COL11A2):c.453T>C (p.Arg151=)	SNV Germline	Chr6:33188515	Conflicting classifications of pathogenicity	Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive Condition: not provided	Criteria Provided Conflicting Classifications	CA3751656	rs_147115504	2 SubmittersRCV000290354 RCV000390399 RCV002058606
NM_080680.3(COL11A2):c.3725C>T (p.Ser1242Leu)	SNV Germline	Chr6:33169456	Conflicting classifications of pathogenicity	not specified Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3750387	rs_534570825	6 SubmittersRCV000609757 RCV000408334 RCV000408369 RCV000657971 RCV002523565
NM_080680.3(COL11A2):c.3267G>A (p.Val1089=)	SNV Germline	Chr6:33171316	Conflicting classifications of pathogenicity	Otospondylomegaepiphyseal dysplasia, autosomal recessive Fibrochondrogenesis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA3750581	rs_781462105	2 SubmittersRCV000266996 RCV000291601 RCV002058603
NM_080680.3(COL11A2):c.2416C>T (p.Arg806Cys)	SNV Germline	Chr6:33174541	Conflicting classifications of pathogenicity	Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3750918	rs_376355040	3 SubmittersRCV000268237 RCV000360580 RCV002058604 RCV004975478
NM_080680.3(COL11A2):c.1818+15G>A	SNV Germline	Chr6:33178293	Conflicting classifications of pathogenicity	Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive Condition: not provided	Criteria Provided Conflicting Classifications	CA3751191	rs_549588854	2 SubmittersRCV000266997 RCV000324551 RCV002524475
NM_080680.3(COL11A2):c.3883G>A (p.Glu1295Lys)	SNV Germline	Chr6:33168729	Conflicting classifications of pathogenicity	Otospondylomegaepiphyseal dysplasia, autosomal recessive Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal dominant Condition: not provided Autosomal recessive nonsyndromic hearing loss 53 Autosomal dominant nonsyndromic hearing loss 13 Otospondylomegaepiphyseal dysplasia, autosomal dominant Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive	Criteria Provided Conflicting Classifications	CA3750325	rs_758507327	5 SubmittersRCV000264819 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 Condition: not provided not specified COL11A2-related disorder	Criteria Provided Conflicting Classifications	CA10626652	rs_886061315	6 SubmittersRCV000292046 RCV000293307 RCV001850900 RCV004767243 RCV004748742
NM_080680.3(COL11A2):c.2271C>T (p.Gly757=)	SNV Germline	Chr6:33175679	Conflicting classifications of pathogenicity	Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive Connective tissue disorder Condition: not provided COL11A2-related disorder not specified	Criteria Provided Conflicting Classifications	CA3750960	rs_745568808	7 SubmittersRCV000282672 RCV000374777 RCV000680470 RCV001338547 RCV003957836 RCV006701386
NM_080680.3(COL11A2):c.1381G>T (p.Gly461Cys)	SNV Germline	Chr6:33179784	Conflicting classifications of pathogenicity	Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA3751368	rs_764998691	4 SubmittersRCV000346166 RCV000386159 RCV001662334 RCV006690377
NM_080680.3(COL11A2):c.5A>G (p.Glu2Gly)	SNV Germline	Chr6:33192236	Conflicting classifications of pathogenicity	Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive Condition: not provided Autosomal dominant nonsyndromic hearing loss 13	Criteria Provided Conflicting Classifications	CA3751773	rs_568840295	4 SubmittersRCV000289533 RCV000342251 RCV002461106 RCV003387834
NM_080680.3(COL11A2):c.4430G>T (p.Gly1477Val)	SNV Unknown	Chr6:33165983	Likely pathogenic	Sensorineural hearing loss disorder	Criteria Provided Single Submitter	CA3750080	rs_745434198	1 SubmittersRCV000415302
NM_080680.3(COL11A2):c.3289A>C (p.Thr1097Pro)	SNV Germline	Chr6:33171294	Conflicting classifications of pathogenicity	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	CA3750574	rs_138045609	3 SubmittersRCV000764646 RCV000437358
NM_080680.3(COL11A2):c.3381G>C (p.Glu1127Asp)	SNV Germline	Chr6:33170903	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3750521	rs_768988213	2 SubmittersRCV000423321
NM_080680.3(COL11A2):c.5083C>T (p.Arg1695Trp)	SNV Germline	Chr6:33163806	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3749909	rs_534700620	2 SubmittersRCV000436866
NM_080680.3(COL11A2):c.1427C>A (p.Ala476Glu)	SNV Germline	Chr6:33179738	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3751362	rs_373983482	3 SubmittersRCV000422137
NM_080680.3(COL11A2):c.706C>T (p.Pro236Ser)	SNV Germline	Chr6:33186719	Conflicting classifications of pathogenicity	not specified Condition: not provided Connective tissue disorder	Criteria Provided Conflicting Classifications	CA3751591	rs_35116188	7 SubmittersRCV000419219 RCV000585218 RCV000659330
NM_080680.3(COL11A2):c.3142G>A (p.Gly1048Ser)	SNV Germline	Chr6:33171721	Conflicting classifications of pathogenicity	Condition: not provided Otospondylomegaepiphyseal dysplasia, autosomal recessive Autosomal recessive nonsyndromic hearing loss 53 Autosomal dominant nonsyndromic hearing loss 13 Otospondylomegaepiphyseal dysplasia, autosomal dominant Fibrochondrogenesis 2	Criteria Provided Conflicting Classifications	CA16605527	rs_1057524643	3 SubmittersRCV000429567 RCV005044647
NM_080680.3(COL11A2):c.2179G>T (p.Gly727Ter)	SNV Germline	Chr6:33176294	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA16605528	rs_768569721	1 SubmittersRCV000425711
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 Otospondylomegaepiphyseal dysplasia, autosomal dominant Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA16618279	rs_911722283	3 SubmittersRCV000487207 RCV002489177
NM_080680.3(COL11A2):c.1879C>T (p.Arg627Ter)	SNV Germline	Chr6:33177700	Pathogenic	Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA3751142	rs_374156844	3 SubmittersRCV000487615
NM_080680.3(COL11A2):c.2555G>A (p.Arg852Gln)	SNV Germline	Chr6:33173901	Conflicting classifications of pathogenicity	not specified Condition: not provided Connective tissue disorder Hearing impairment	Criteria Provided Conflicting Classifications	CA3750846	rs_147927477	12 SubmittersRCV000489315 RCV000766588 RCV000659339 RCV001375473
NM_080680.3(COL11A2):c.190C>T (p.Arg64Ter)	SNV Germline	Chr6:33189362	Pathogenic	Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA363613163	rs_1554226209	2 SubmittersRCV000497961
NM_080680.3(COL11A2):c.3173C>T (p.Pro1058Leu)	SNV Germline	Chr6:33171552	Conflicting classifications of pathogenicity	not specified Condition: not provided COL11A2-related disorder	Criteria Provided Conflicting Classifications	CA3750611	rs_562253142	7 SubmittersRCV000503631 RCV000657862 RCV003932823
NM_080680.3(COL11A2):c.5170C>T (p.Arg1724Trp)	SNV Germline	Chr6:33163719	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA3749896	rs_762351406	2 SubmittersRCV000507084 RCV002524911
NM_080680.3(COL11A2):c.1363C>T (p.Arg455Trp)	SNV Germline	Chr6:33179802	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3751372	rs_144862714	4 SubmittersRCV000513605
NM_080680.3(COL11A2):c.939+1G>A	SNV Germline	Chr6:33184991	Conflicting classifications of pathogenicity	Condition: not provided Fibrochondrogenesis 2 Autosomal dominant nonsyndromic hearing loss 13 Autosomal recessive nonsyndromic hearing loss 53 Otospondylomegaepiphyseal dysplasia, autosomal dominant Otospondylomegaepiphyseal dysplasia, autosomal recessive	Criteria Provided Conflicting Classifications	CA3751522	rs_750173113	5 SubmittersRCV000512809 RCV005034055
NM_080680.3(COL11A2):c.939+8T>C	SNV Germline	Chr6:33184984	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA658653774	rs_1554223902	2 SubmittersRCV000514655
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	5 SubmittersRCV000521843 RCV000678343 RCV003960237
NM_080680.3(COL11A2):c.361C>T (p.Arg121Cys)	SNV Germline	Chr6:33189060	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3751685	rs_553025178	3 SubmittersRCV000520193
NM_080680.3(COL11A2):c.2583+1G>A	SNV Germline	Chr6:33173872	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA363642862	rs_1554218503	1 SubmittersRCV000579175
NM_080680.3(COL11A2):c.529C>T (p.Arg177Ter)	SNV Germline	Chr6:33188439	Pathogenic/Likely pathogenic	Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA3751643	rs_764450149	2 SubmittersRCV000578641
NM_080680.3(COL11A2):c.12C>T (p.Cys4=)	SNV Germline	Chr6:33192229	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA137054928	rs_914781832	2 SubmittersRCV000593796
NM_080680.3(COL11A2):c.1180-4A>G	SNV Germline	Chr6:33181009	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA658796738	rs_1554221961	2 SubmittersRCV000594866
NM_080680.3(COL11A2):c.2932G>A (p.Asp978Asn)	SNV Germline	Chr6:33172345	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3750696	rs_772537556	3 SubmittersRCV000591205
NM_080680.3(COL11A2):c.1380G>A (p.Gly460=)	SNV Germline	Chr6:33179785	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3751369	rs_373168555	3 SubmittersRCV000591588
NM_080680.3(COL11A2):c.3877C>T (p.Arg1293Ter)	SNV Germline	Chr6:33168735	Pathogenic/Likely pathogenic	Condition: not provided Oculodentodigital dysplasia, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA3750328	rs_746754428	3 SubmittersRCV000591888 RCV005645112
NM_080680.3(COL11A2):c.4676G>A (p.Arg1559Gln)	SNV Germline	Chr6:33165623	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA3750022	rs_774845879	4 SubmittersRCV000593018 RCV004965598 RCV006459644
NM_080680.3(COL11A2):c.844G>A (p.Val282Met)	SNV Germline	Chr6:33185733	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3751547	rs_146432857	2 SubmittersRCV000593324
NM_080680.3(COL11A2):c.1451C>T (p.Ala484Val)	SNV Germline	Chr6:33179483	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant nonsyndromic hearing loss 33	Criteria Provided Conflicting Classifications	CA3751342	rs_143965711	4 SubmittersRCV000597123 RCV004527391
NM_080680.3(COL11A2):c.2841C>T (p.Pro947=)	SNV Germline	Chr6:33172587	Conflicting classifications of pathogenicity	Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA3750714	rs_565891154	4 SubmittersRCV000596184 RCV005431795
NM_080680.3(COL11A2):c.5088G>A (p.Thr1696=)	SNV Germline	Chr6:33163801	Conflicting classifications of pathogenicity	not specified Otospondylomegaepiphyseal dysplasia, autosomal dominant Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive Condition: not provided	Criteria Provided Conflicting Classifications	CA3749906	rs_142893093	5 SubmittersRCV000610002 RCV001152080 RCV001152081 RCV001152079 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.4190T>G (p.Leu1397Arg)	SNV Germline	Chr6:33167110	Conflicting classifications of pathogenicity	not specified Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3750187	rs_571981688	4 SubmittersRCV000608919 RCV001591367 RCV004024895
NM_080680.3(COL11A2):c.3799-9C>G	SNV Germline	Chr6:33169017	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA3750361	rs_762361602	2 SubmittersRCV000611433 RCV002528791
NM_080680.3(COL11A2):c.2065C>T (p.Pro689Ser)	SNV Germline	Chr6:33176997	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA3751063	rs_766440021	2 SubmittersRCV000600164 RCV002531148
NM_080680.3(COL11A2):c.4943A>T (p.His1648Leu)	SNV Germline	Chr6:33164394	Conflicting classifications of pathogenicity	Rare genetic deafness not specified	Criteria Provided Conflicting Classifications	CA363616329	rs_1487325262	2 SubmittersRCV000610034 RCV005898794
NM_080680.3(COL11A2):c.4055C>T (p.Pro1352Leu)	SNV Germline	Chr6:33167493	Conflicting classifications of pathogenicity	not specified Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3750239	rs_763995767	3 SubmittersRCV000605192 RCV001860244 RCV002529319
NM_080680.3(COL11A2):c.3116G>T (p.Gly1039Val)	SNV Germline	Chr6:33171747	Conflicting classifications of pathogenicity	Rare genetic deafness Condition: not provided	Criteria Provided Conflicting Classifications	CA363636462	rs_1554216943	2 SubmittersRCV000602313 RCV006463518
NM_080680.3(COL11A2):c.1221G>A (p.Ala407=)	SNV Germline	Chr6:33180964	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA449840082	rs_1554221935	2 SubmittersRCV000604350 RCV006463556
NM_080680.3(COL11A2):c.1720-4G>T	SNV Germline	Chr6:33178492	Conflicting classifications of pathogenicity	not specified Condition: not provided COL11A2-related disorder	Criteria Provided Conflicting Classifications	CA3751227	rs_369678506	4 SubmittersRCV000613122 RCV000728410 RCV003905620
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 dominant Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive Condition: not provided COL11A2-related disorder	Criteria Provided Conflicting Classifications	CA3750756	rs_779878105	4 SubmittersRCV001156603 RCV001156604 RCV001156605 RCV001698018 RCV003962793
NM_080680.3(COL11A2):c.3679C>T (p.Pro1227Ser)	SNV Germline	Chr6:33169842	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3750415	rs_142500487	3 SubmittersRCV000658158 RCV004026024
NM_080680.3(COL11A2):c.982C>T (p.Gln328Ter)	SNV Germline	Chr6:33184282	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA363608979	rs_1554223504	1 SubmittersRCV000659048
NM_080680.3(COL11A2):c.4040C>T (p.Pro1347Leu)	SNV Germline	Chr6:33167508	Conflicting classifications of pathogenicity	Connective tissue disorder Condition: not provided COL11A2-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3750244	rs_142890313	5 SubmittersRCV000659343 RCV001569344 RCV004748886 RCV005540134
NM_080680.3(COL11A2):c.3950T>C (p.Leu1317Pro)	SNV Germline	Chr6:33168529	Conflicting classifications of pathogenicity	Connective tissue disorder Condition: not provided Nonsyndromic genetic hearing loss	Criteria Provided Conflicting Classifications	CA3750302	rs_145871842	6 SubmittersRCV000659342 RCV001724120 RCV005357877
NM_080680.3(COL11A2):c.2560G>A (p.Ala854Thr)	SNV Germline	Chr6:33173896	Conflicting classifications of pathogenicity	Connective tissue disorder Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3750845	rs_371864924	6 SubmittersRCV000659340 RCV001572568 RCV005540133
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	CA3750987	rs_202032297	3 SubmittersRCV000659338 RCV001151380 RCV001151381 RCV001151382 RCV002534314
NM_080680.3(COL11A2):c.1817C>T (p.Ser606Leu)	SNV Germline	Chr6:33178309	Conflicting classifications of pathogenicity	Connective tissue disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA3751198	rs_147328015	3 SubmittersRCV000659337 RCV001861710
NM_080680.3(COL11A2):c.544G>A (p.Val182Ile)	SNV Germline	Chr6:33188424	Conflicting classifications of pathogenicity	Connective tissue disorder not specified Condition: not provided Inborn genetic diseases COL11A2-related disorder	Criteria Provided Conflicting Classifications	CA3751639	rs_375937729	11 SubmittersRCV000659329 RCV000825903 RCV001564237 RCV003163035 RCV004748885
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	CA3751606	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 recessive Otospondylomegaepiphyseal dysplasia, autosomal dominant Fibrochondrogenesis 2 Condition: not provided not specified COL11A2-related disorder	Criteria Provided Conflicting Classifications	CA3750984	rs_201076557	7 SubmittersRCV000680471 RCV001151377 RCV001151378 RCV001151379 RCV001475501 RCV002298737 RCV004748899
NM_080680.3(COL11A2):c.1498C>T (p.Pro500Ser)	SNV Germline	Chr6:33179436	Conflicting classifications of pathogenicity	Connective tissue disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA3751336	rs_747029402	3 SubmittersRCV000680473 RCV000998581
NM_080680.3(COL11A2):c.2637T>C (p.Pro879=)	SNV Germline	Chr6:33173547	Conflicting classifications of pathogenicity	Condition: not provided COL11A2-related disorder	Criteria Provided Conflicting Classifications	CA3750789	rs_199677738	3 SubmittersRCV000733028 RCV004748947
NM_080680.3(COL11A2):c.5121G>T (p.Gln1707His)	SNV Germline	Chr6:33163768	Conflicting classifications of pathogenicity	not specified Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3749900	rs_138667578	5 SubmittersRCV000825901 RCV001816913 RCV005801902
NM_080680.3(COL11A2):c.106C>T (p.Arg36Trp)	SNV Germline	Chr6:33189446	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA3751753	rs_118097056	3 SubmittersRCV000825737 RCV002067418
NM_080680.3(COL11A2):c.579C>T (p.Ala193=)	SNV Germline	Chr6:33188389	Conflicting classifications of pathogenicity	Condition: not provided Otospondylomegaepiphyseal dysplasia, autosomal dominant Otospondylomegaepiphyseal dysplasia, autosomal recessive Fibrochondrogenesis 2 COL11A2-related disorder	Criteria Provided Conflicting Classifications	CA137053960	rs_201054429	4 SubmittersRCV000841577 RCV001157334 RCV001155657 RCV001155658 RCV003965626
NM_080680.3(COL11A2):c.4465G>A (p.Gly1489Ser)	SNV Unknown	Chr6:33165948	Pathogenic	Otospondylomegaepiphyseal dysplasia, autosomal dominant	Criteria Provided Single Submitter	CA363619497	rs_1583287711	1 SubmittersRCV000856785
NM_080680.3(COL11A2):c.4898G>A (p.Gly1633Asp)	SNV Germline	Chr6:33164439	Conflicting classifications of pathogenicity	Condition: not provided COL11A2-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3749959	rs_143920565	6 SubmittersRCV000991816 RCV004749580 RCV004030131
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	CA3751248	rs_139350991	5 SubmittersRCV000998579 RCV001151600 RCV001157017 RCV001157018 RCV003953413
NM_080680.3(COL11A2):c.3385G>A (p.Gly1129Arg)	SNV Germline	Chr6:33170899	Pathogenic/Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 53 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA137066913	rs_550153707	2 SubmittersRCV001004793 RCV002549260
NM_080680.3(COL11A2):c.2708C>T (p.Pro903Leu)	SNV Germline	Chr6:33173376	Conflicting classifications of pathogenicity	Retinal dystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA3750758	rs_567206091	3 SubmittersRCV001074156 RCV001862541
NM_080680.3(COL11A2):c.4438G>A (p.Gly1480Arg)	SNV Germline	Chr6:33165975	Conflicting classifications of pathogenicity	Condition: not provided Otospondylomegaepiphyseal dysplasia, autosomal dominant	Criteria Provided Conflicting Classifications	CA363619619	rs_1172866556	5 SubmittersRCV001091817 RCV006688821
NM_080680.3(COL11A2):c.4983C>T (p.Asp1661=)	SNV Germline	Chr6:33164354	Conflicting classifications of pathogenicity	Otospondylomegaepiphyseal dysplasia, autosomal recessive Otospondylomegaepiphyseal dysplasia, autosomal dominant Fibrochondrogenesis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA3749940	rs_528251146	2 SubmittersRCV001155959 RCV001155960 RCV001155961 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	CA3750021	rs_749716412	3 SubmittersRCV001156078 RCV001156076 RCV001156077 RCV002032438
NM_080680.3(COL11A2):c.4228A>G (p.Lys1410Glu)	SNV Germline	Chr6:33167072	Conflicting classifications of pathogenicity	Otospondylomegaepiphyseal dysplasia, autosomal recessive Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA3750182	rs_780158388	2 SubmittersRCV001152395 RCV001152394 RCV001152396 RCV003558720
NM_080680.3(COL11A2):c.3706C>T (p.Arg1236Cys)	SNV Germline	Chr6:33169475	Conflicting classifications of pathogenicity	Otospondylomegaepiphyseal dysplasia, autosomal dominant Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive Down syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA3750390	rs_751612997	4 SubmittersRCV001158059 RCV001158061 RCV001158060 RCV001375154 RCV001346855
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	CA449881014	rs_1405058032	2 SubmittersRCV001155038 RCV001155039 RCV001155040 RCV001882483
NM_080680.3(COL11A2):c.1714C>A (p.His572Asn)	SNV Germline	Chr6:33178684	Conflicting classifications of pathogenicity	Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive Otospondylomegaepiphyseal dysplasia, autosomal dominant Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3751247	rs_751888761	4 SubmittersRCV001157014 RCV001157016 RCV001157015 RCV001759912 RCV004032823
NM_080680.3(COL11A2):c.622C>T (p.Leu208=)	SNV Germline	Chr6:33186803	Conflicting classifications of pathogenicity	Otospondylomegaepiphyseal dysplasia, autosomal recessive Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal dominant Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA3751607	rs_200272494	8 SubmittersRCV001155654 RCV001155655 RCV001155656 RCV001579994 RCV006702443
NM_080680.3(COL11A2):c.222G>A (p.Gln74=)	SNV Germline	Chr6:33189330	Conflicting classifications of pathogenicity	Otospondylomegaepiphyseal dysplasia, autosomal recessive Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA449852260	rs_1772815896	2 SubmittersRCV001151893 RCV001151891 RCV001151892 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 not specified	Criteria Provided Conflicting Classifications	CA3751742	rs_374898022	4 SubmittersRCV001153142 RCV001153143 RCV001153144 RCV002070864 RCV006702442
NM_080680.3(COL11A2):c.-82C>G	SNV Germline	Chr6:33192322	Conflicting classifications of pathogenicity	Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal dominant Otospondylomegaepiphyseal dysplasia, autosomal recessive	Criteria Provided Conflicting Classifications	CA137054944	rs_539232957	1 SubmittersRCV001157452 RCV001157453 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 not specified	Criteria Provided Conflicting Classifications	CA137061766	rs_921581176	4 SubmittersRCV001156073 RCV001156074 RCV001156075 RCV001577226 RCV006702444
NM_080680.3(COL11A2):c.4231-4C>G	SNV Germline	Chr6:33166831	Conflicting classifications of pathogenicity	Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive Otospondylomegaepiphyseal dysplasia, autosomal dominant	Criteria Provided Conflicting Classifications	CA3750156	rs_564087840	1 SubmittersRCV001152393 RCV001152391 RCV001152392
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	CA1139659480	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	CA137068710	rs_891664323	2 SubmittersRCV001151248 RCV001151246 RCV001151247 RCV003558718
NM_080680.3(COL11A2):c.2431-4C>T	SNV Germline	Chr6:33174222	Conflicting classifications of pathogenicity	Otospondylomegaepiphyseal dysplasia, autosomal recessive Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA566428946	rs_1457746213	2 SubmittersRCV001154317 RCV001154316 RCV001154318 RCV001882481
NM_080680.3(COL11A2):c.3959G>A (p.Arg1320Gln)	SNV Germline	Chr6:33168520	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA3750299	rs_372143434	2 SubmittersRCV001195603 RCV002560204
NM_080680.3(COL11A2):c.3343C>T (p.Pro1115Ser)	SNV Germline	Chr6:33171137	Conflicting classifications of pathogenicity	not specified Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3750546	rs_372806452	5 SubmittersRCV001195604 RCV001547914 RCV006347494
NM_080680.3(COL11A2):c.3676G>A (p.Glu1226Lys)	SNV Germline	Chr6:33169845	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 13 Intellectual disability Condition: not provided	Criteria Provided Conflicting Classifications	CA363628372	rs_1259912377	2 SubmittersRCV001253256 RCV001255333 RCV003727955
NM_080680.3(COL11A2):c.3859G>C (p.Asp1287His)	SNV Germline	Chr6:33168753	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA363625253	rs_1219133025	3 SubmittersRCV001262405 RCV003223713
NM_080680.3(COL11A2):c.5027C>T (p.Pro1676Leu)	SNV Germline	Chr6:33164310	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3749935	rs_769990941	2 SubmittersRCV001307969 RCV005802116
NM_080680.3(COL11A2):c.4558C>T (p.Arg1520Cys)	SNV Germline	Chr6:33165741	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA137062099	rs_934714603	2 SubmittersRCV001302093
NM_080680.3(COL11A2):c.692G>A (p.Gly231Asp)	SNV Germline	Chr6:33186733	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3751594	rs_769697511	3 SubmittersRCV001321316
NM_080680.3(COL11A2):c.689G>A (p.Gly230Glu)	SNV Germline	Chr6:33186736	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3751595	rs_143571317	2 SubmittersRCV001317429
NM_080680.3(COL11A2):c.3697C>T (p.Arg1233Cys)	SNV Germline	Chr6:33169484	Conflicting classifications of pathogenicity	Otospondylomegaepiphyseal dysplasia, autosomal recessive Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA3750394	rs_780613380	4 SubmittersRCV001332797 RCV001751648 RCV005236810
NM_080680.3(COL11A2):c.1510C>T (p.Pro504Ser)	SNV Germline	Chr6:33179278	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 13 Condition: not provided	Criteria Provided Conflicting Classifications	CA3751323	rs_765609390	3 SubmittersRCV001336876 RCV003770867
NM_080680.3(COL11A2):c.2546G>A (p.Arg849Gln)	SNV Germline	Chr6:33173910	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3750849	rs_761524468	2 SubmittersRCV001370392
NM_080680.3(COL11A2):c.914C>T (p.Ser305Leu)	SNV Germline	Chr6:33185017	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA137053201	rs_1049821607	2 SubmittersRCV001371924
NM_080680.3(COL11A2):c.4481C>T (p.Pro1494Leu)	SNV Germline	Chr6:33165932	Conflicting classifications of pathogenicity	Hearing impairment Condition: not provided	Criteria Provided Conflicting Classifications	CA3750076	rs_758796613	3 SubmittersRCV001375206 RCV001762659
NM_080680.3(COL11A2):c.4338+5G>A	SNV Germline	Chr6:33166715	Conflicting classifications of pathogenicity	Hearing impairment Condition: not provided	Criteria Provided Conflicting Classifications	CA2499218216	rs_2150522213	3 SubmittersRCV001375326 RCV003574879
NM_080680.3(COL11A2):c.4202G>A (p.Arg1401Gln)	SNV Germline	Chr6:33167098	Conflicting classifications of pathogenicity	Hearing impairment Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3750184	rs_184399988	3 SubmittersRCV001375158 RCV001871967 RCV002550206
NM_080680.3(COL11A2):c.3101G>A (p.Arg1034His)	SNV Germline	Chr6:33171762	Conflicting classifications of pathogenicity	Hearing impairment Condition: not provided	Criteria Provided Conflicting Classifications	CA137067504	rs_957902805	3 SubmittersRCV001375385 RCV001664857
NM_080680.3(COL11A2):c.2812C>T (p.Pro938Ser)	SNV Germline	Chr6:33172616	Conflicting classifications of pathogenicity	not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA3750720	rs_764935691	3 SubmittersRCV001449747 RCV003558830
NM_080680.3(COL11A2):c.2220G>T (p.Glu740Asp)	SNV Germline	Chr6:33176064	Conflicting classifications of pathogenicity	Condition: not provided Otospondylomegaepiphyseal dysplasia, autosomal recessive Autosomal recessive nonsyndromic hearing loss 53 Autosomal dominant nonsyndromic hearing loss 13 Otospondylomegaepiphyseal dysplasia, autosomal dominant Fibrochondrogenesis 2 not specified	Criteria Provided Conflicting Classifications	CA3750986	rs_202032297	4 SubmittersRCV001462585 RCV005038231 RCV005237837
NM_080680.3(COL11A2):c.3764G>A (p.Gly1255Asp)	SNV Germline	Chr6:33169417	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA363627626	rs_2150534777	2 SubmittersRCV001547307
NM_080680.3(COL11A2):c.2169+1G>T	SNV Germline	Chr6:33176432	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA363649682	rs_2150568816	1 SubmittersRCV001547054
NM_080680.3(COL11A2):c.1971+6C>T	SNV Germline	Chr6:33177406	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3751113	rs_746341530	2 SubmittersRCV001548259
NM_080680.3(COL11A2):c.143G>A (p.Arg48Gln)	SNV Germline	Chr6:33189409	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3751746	rs_760502556	2 SubmittersRCV001544687
NM_080680.3(COL11A2):c.3830C>A (p.Pro1277His)	SNV Germline	Chr6:33168977	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA3750357	rs_777156156	4 SubmittersRCV001549304 RCV004980593 RCV006702633
NM_080680.3(COL11A2):c.3554G>C (p.Arg1185Pro)	SNV Germline	Chr6:33170354	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA137064737	rs_771004504	3 SubmittersRCV001550847 RCV004039295
NM_080680.3(COL11A2):c.4126C>G (p.Gln1376Glu)	SNV Germline	Chr6:33167314	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3750212	rs_150784358	3 SubmittersRCV001560067 RCV003161097
NM_080680.3(COL11A2):c.1063C>T (p.Arg355Cys)	SNV Germline	Chr6:33184201	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3751487	rs_774410925	2 SubmittersRCV001562628
NM_080680.3(COL11A2):c.4538G>A (p.Arg1513Gln)	SNV Germline	Chr6:33165761	Conflicting classifications of pathogenicity	Condition: not provided COL11A2-related disorder	Criteria Provided Conflicting Classifications	CA3750056	rs_371674362	4 SubmittersRCV001565415 RCV005225438
NM_080680.3(COL11A2):c.973G>A (p.Asp325Asn)	SNV Germline	Chr6:33184291	Conflicting classifications of pathogenicity	Condition: not provided Autosomal recessive nonsyndromic hearing loss 53 Otospondylomegaepiphyseal dysplasia, autosomal recessive Otospondylomegaepiphyseal dysplasia, autosomal dominant Fibrochondrogenesis 2 Autosomal dominant nonsyndromic hearing loss 13	Criteria Provided Conflicting Classifications	CA3751497	rs_369790491	5 SubmittersRCV001565040 RCV005038264
NM_080680.3(COL11A2):c.291A>G (p.Gln97=)	SNV Germline	Chr6:33189130	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3751699	rs_538869102	2 SubmittersRCV001565289
NM_080680.3(COL11A2):c.4344C>G (p.Ile1448Met)	SNV Germline	Chr6:33166561	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3750123	rs_554269032	3 SubmittersRCV001570647 RCV005320825
NM_080680.3(COL11A2):c.3609T>G (p.Val1203=)	SNV Germline	Chr6:33170074	Conflicting classifications of pathogenicity	Condition: not provided COL11A2-related disorder	Criteria Provided Conflicting Classifications	CA3750441	rs_768558233	3 SubmittersRCV001570656 RCV004749715
NM_080680.3(COL11A2):c.1097C>T (p.Ala366Val)	SNV Germline	Chr6:33184167	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3751481	rs_534335166	3 SubmittersRCV001572540
NM_080680.3(COL11A2):c.3326C>A (p.Pro1109His)	SNV Germline	Chr6:33171154	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3750553	rs_751465004	2 SubmittersRCV001574421
NM_080680.3(COL11A2):c.2356C>T (p.Pro786Ser)	SNV Germline	Chr6:33175594	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA137070746	rs_997884133	2 SubmittersRCV001584773
NM_080680.3(COL11A2):c.2591C>A (p.Ser864Tyr)	SNV Germline	Chr6:33173738	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3750818	rs_373490721	3 SubmittersRCV001589565 RCV004980606
NM_080680.3(COL11A2):c.1999G>A (p.Gly667Ser)	SNV Germline	Chr6:33177198	Conflicting classifications of pathogenicity	Condition: not provided not specified Autosomal recessive nonsyndromic hearing loss 53 Otospondylomegaepiphyseal dysplasia, autosomal recessive Otospondylomegaepiphyseal dysplasia, autosomal dominant Fibrochondrogenesis 2 Autosomal dominant nonsyndromic hearing loss 13	Criteria Provided Conflicting Classifications	CA363653678	rs_1322629595	4 SubmittersRCV001591459 RCV004587189 RCV005038269
NM_080680.3(COL11A2):c.4027G>A (p.Ala1343Thr)	SNV Germline	Chr6:33167521	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3750246	rs_759017753	2 SubmittersRCV001582100
NM_080680.3(COL11A2):c.2519G>A (p.Arg840Gln)	SNV Germline	Chr6:33174021	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3750864	rs_538425732	3 SubmittersRCV001593423 RCV004611854
NM_080680.3(COL11A2):c.142C>T (p.Arg48Trp)	SNV Germline	Chr6:33189410	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3751747	rs_151140273	2 SubmittersRCV001586782
NM_080680.3(COL11A2):c.3138G>C (p.Glu1046Asp)	SNV Germline	Chr6:33171725	Conflicting classifications of pathogenicity	Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA3750633	rs_773329088	3 SubmittersRCV001587123 RCV003399397
NM_080680.3(COL11A2):c.1636C>G (p.Arg546Gly)	SNV Germline	Chr6:33178949	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3751277	rs_149697159	3 SubmittersRCV001582335 RCV005802206
NM_080680.3(COL11A2):c.434C>G (p.Ala145Gly)	SNV Germline	Chr6:33188987	Conflicting classifications of pathogenicity	Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA3751674	rs_138305560	3 SubmittersRCV001587854 RCV006702652
NM_080680.3(COL11A2):c.3118C>A (p.Pro1040Thr)	SNV Germline	Chr6:33171745	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3750637	rs_759919085	3 SubmittersRCV001592322 RCV004039520
NM_080680.3(COL11A2):c.3343C>A (p.Pro1115Thr)	SNV Germline	Chr6:33171137	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3750545	rs_372806452	4 SubmittersRCV001592344 RCV002579481
NM_080680.3(COL11A2):c.4544C>T (p.Ser1515Leu)	SNV Germline	Chr6:33165755	Conflicting classifications of pathogenicity	Condition: not provided COL11A2-related disorder	Criteria Provided Conflicting Classifications	CA3750052	rs_764154647	3 SubmittersRCV001596058 RCV003416404
NM_080680.3(COL11A2):c.3958C>T (p.Arg1320Ter)	SNV Germline	Chr6:33168521	Pathogenic/Likely pathogenic	Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA363624516	rs_1206475365	2 SubmittersRCV001597555
NM_080680.3(COL11A2):c.4057G>A (p.Val1353Met)	SNV Germline	Chr6:33167491	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3750237	rs_752706766	3 SubmittersRCV001665307 RCV005540475
NM_080680.3(COL11A2):c.4933G>A (p.Val1645Ile)	SNV Germline	Chr6:33164404	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3749949	rs_556677734	2 SubmittersRCV001658762
NM_080680.3(COL11A2):c.1002G>C (p.Glu334Asp)	SNV Germline	Chr6:33184262	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA3751494	rs_34415548	5 SubmittersRCV001658774 RCV004980620 RCV006457447
NM_080680.3(COL11A2):c.2326C>T (p.Arg776Cys)	SNV Germline	Chr6:33175624	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3750955	rs_776701792	2 SubmittersRCV001732563
NM_080680.3(COL11A2):c.5087C>T (p.Thr1696Met)	SNV Germline	Chr6:33163802	Conflicting classifications of pathogenicity	Condition: not provided COL11A2-related disorder	Criteria Provided Conflicting Classifications	CA3749907	rs_570708095	4 SubmittersRCV001732670 RCV003913353
NM_080680.3(COL11A2):c.940-4G>T	SNV Germline	Chr6:33184328	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA566409892	rs_1397179790	2 SubmittersRCV001762750
NM_080680.3(COL11A2):c.3675C>T (p.Gly1225=)	SNV Germline	Chr6:33169846	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3750416	rs_771644818	2 SubmittersRCV001756450
NM_080680.3(COL11A2):c.2327G>A (p.Arg776His)	SNV Germline	Chr6:33175623	Conflicting classifications of pathogenicity	Condition: not provided COL11A2-related disorder	Criteria Provided Conflicting Classifications	CA3750953	rs_748159740	3 SubmittersRCV001754496 RCV003968529
NM_080680.3(COL11A2):c.1403C>T (p.Ala468Val)	SNV Germline	Chr6:33179762	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA363606011	rs_1475898236	2 SubmittersRCV001770975
NM_080680.3(COL11A2):c.2346C>A (p.Asp782Glu)	SNV Germline	Chr6:33175604	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3750948	rs_769588312	2 SubmittersRCV001772416
NM_080680.3(COL11A2):c.3830C>G (p.Pro1277Arg)	SNV Germline	Chr6:33168977	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA137064035	rs_777156156	2 SubmittersRCV001767335
NM_080680.3(COL11A2):c.3554G>A (p.Arg1185Gln)	SNV Germline	Chr6:33170354	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3750459	rs_771004504	2 SubmittersRCV001770907
NM_080680.3(COL11A2):c.2669C>T (p.Pro890Leu)	SNV Germline	Chr6:33173515	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3750781	rs_764307090	3 SubmittersRCV001767069 RCV003264079
NM_080680.3(COL11A2):c.3446A>G (p.Asn1149Ser)	SNV Germline	Chr6:33170838	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases COL11A2-related disorder	Criteria Provided Conflicting Classifications	CA3750512	rs_754703121	4 SubmittersRCV001772640 RCV003163844 RCV004749730
NM_080680.3(COL11A2):c.4541G>A (p.Arg1514His)	SNV Germline	Chr6:33165758	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3750054	rs_756194499	3 SubmittersRCV001770620 RCV005802215
NM_080680.3(COL11A2):c.4970G>T (p.Gly1657Val)	SNV Germline	Chr6:33164367	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA363616183	rs_1300439797	2 SubmittersRCV001752712
NM_080680.3(COL11A2):c.4307C>T (p.Pro1436Leu)	SNV Germline	Chr6:33166751	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA363620492	rs_1338682682	2 SubmittersRCV001765608
NM_080680.3(COL11A2):c.2821G>A (p.Glu941Lys)	SNV Germline	Chr6:33172607	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3750715	rs_753595762	2 SubmittersRCV001758433
NM_080680.3(COL11A2):c.2510G>A (p.Arg837Gln)	SNV Germline	Chr6:33174030	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3750866	rs_773908748	2 SubmittersRCV001758577
NM_080680.3(COL11A2):c.4337T>C (p.Met1446Thr)	SNV Germline	Chr6:33166721	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3750142	rs_781001180	3 SubmittersRCV001774394 RCV002540473
NM_080680.3(COL11A2):c.3992G>A (p.Arg1331Gln)	SNV Germline	Chr6:33167821	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3750272	rs_146082418	2 SubmittersRCV001769076
NM_080680.3(COL11A2):c.2843C>T (p.Pro948Leu)	SNV Germline	Chr6:33172585	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3750712	rs_779187034	3 SubmittersRCV001763807 RCV004040264
NM_080680.3(COL11A2):c.4010C>T (p.Ala1337Val)	SNV Germline	Chr6:33167803	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3750268	rs_756855492	2 SubmittersRCV001771168
NM_080680.3(COL11A2):c.3335C>A (p.Pro1112His)	SNV Germline	Chr6:33171145	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3750549	rs_759086485	2 SubmittersRCV001766028
NM_080680.3(COL11A2):c.328C>T (p.Arg110Ter)	SNV Germline	Chr6:33189093	Pathogenic	Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA137054162	rs_903118000	2 SubmittersRCV001780523
NM_080680.3(COL11A2):c.2376+1G>A	SNV Germline	Chr6:33175573	Conflicting classifications of pathogenicity	Condition: not provided Monogenic hearing loss	Criteria Provided Conflicting Classifications	CA363646144	rs_2150565478	2 SubmittersRCV001780803 RCV006272151
NM_080680.3(COL11A2):c.3392G>A (p.Arg1131Gln)	SNV Germline	Chr6:33170892	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3750516	rs_529015303	3 SubmittersRCV001794845
NM_080680.3(COL11A2):c.3080G>A (p.Gly1027Glu)	SNV Germline	Chr6:33171783	Likely pathogenic	Otospondylomegaepiphyseal dysplasia, autosomal recessive	Criteria Provided Multiple Submitters No Conflicts	CA363636527	rs_2150548120	2 SubmittersRCV001809326
NM_080680.3(COL11A2):c.2939C>T (p.Pro980Leu)	SNV Germline	Chr6:33172338	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA363636954	rs_1408490036	2 SubmittersRCV001930231
NM_080680.3(COL11A2):c.3985G>A (p.Glu1329Lys)	SNV Germline	Chr6:33167828	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3750274	rs_774304709	2 SubmittersRCV001919039
NM_080680.3(COL11A2):c.760A>G (p.Arg254Gly)	SNV Germline	Chr6:33186665	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3751585	rs_755419571	2 SubmittersRCV001878334
NM_080680.3(COL11A2):c.2179G>A (p.Gly727Arg)	SNV Germline	Chr6:33176294	Conflicting classifications of pathogenicity	Condition: not provided not specified Inborn genetic diseases Otospondylomegaepiphyseal dysplasia, autosomal recessive Autosomal recessive nonsyndromic hearing loss 53 Autosomal dominant nonsyndromic hearing loss 13 Otospondylomegaepiphyseal dysplasia, autosomal dominant Fibrochondrogenesis 2	Criteria Provided Conflicting Classifications	CA3751011	rs_768569721	5 SubmittersRCV001912729 RCV004690165 RCV003375417 RCV005038463
NM_080680.3(COL11A2):c.3151-2A>G	SNV Germline	Chr6:33171576	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA363636293	rs_2150546942	1 SubmittersRCV001963772
NM_080680.3(COL11A2):c.4256T>C (p.Ile1419Thr)	SNV Germline	Chr6:33166802	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3750152	rs_759989401	2 SubmittersRCV001991572 RCV004612087
NM_080680.3(COL11A2):c.1726A>G (p.Thr576Ala)	SNV Germline	Chr6:33178482	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant nonsyndromic hearing loss 13 Otospondylomegaepiphyseal dysplasia, autosomal recessive Otospondylomegaepiphyseal dysplasia, autosomal dominant Fibrochondrogenesis 2 Autosomal recessive nonsyndromic hearing loss 53	Criteria Provided Conflicting Classifications	CA3751226	rs_779116250	3 SubmittersRCV002032090 RCV002486792
NM_080680.3(COL11A2):c.4519C>T (p.Gln1507Ter)	SNV Germline	Chr6:33165780	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA363619202	rs_377656039	1 SubmittersRCV001999787
NM_080680.3(COL11A2):c.3329C>G (p.Pro1110Arg)	SNV Germline	Chr6:33171151	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3750550	rs_377242569	3 SubmittersRCV001991216 RCV005804435
NM_080680.3(COL11A2):c.1364G>A (p.Arg455Gln)	SNV Germline	Chr6:33179801	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA363606092	rs_781138300	2 SubmittersRCV001884464
NM_080680.3(COL11A2):c.3064G>A (p.Ala1022Thr)	SNV Germline	Chr6:33171799	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA363636559	rs_1398107304	2 SubmittersRCV001996308
NM_080680.3(COL11A2):c.2554C>T (p.Arg852Ter)	SNV Germline	Chr6:33173902	Pathogenic/Likely pathogenic	Condition: not provided COL11A2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA363643047	rs_1387164225	3 SubmittersRCV001946767 RCV003408012
NM_080680.3(COL11A2):c.233-1G>T	SNV Germline	Chr6:33189189	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA363612932	rs_2150623900	1 SubmittersRCV001992146
NM_080680.3(COL11A2):c.4979G>A (p.Arg1660His)	SNV Germline	Chr6:33164358	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3749941	rs_202191908	2 SubmittersRCV001935724
NM_080680.3(COL11A2):c.4889C>T (p.Ser1630Phe)	SNV Germline	Chr6:33164448	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3749961	rs_773575924	2 SubmittersRCV001865126 RCV005320912
NM_080680.3(COL11A2):c.4249G>A (p.Gly1417Arg)	SNV Germline	Chr6:33166809	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA363621413	rs_2150522747	1 SubmittersRCV002050737
NM_080680.3(COL11A2):c.1399G>A (p.Val467Met)	SNV Germline	Chr6:33179766	Conflicting classifications of pathogenicity	Condition: not provided Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive Autosomal recessive nonsyndromic hearing loss 53 Autosomal dominant nonsyndromic hearing loss 13 Otospondylomegaepiphyseal dysplasia, autosomal dominant	Criteria Provided Conflicting Classifications	CA137051911	rs_755731113	3 SubmittersRCV001879681 RCV005040460
NM_080680.3(COL11A2):c.3366+1G>A	SNV Germline	Chr6:33171113	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA363634168	rs_2150544713	1 SubmittersRCV001977174
NM_080680.3(COL11A2):c.2425C>G (p.Pro809Ala)	SNV Germline	Chr6:33174532	Conflicting classifications of pathogenicity	Condition: not provided COL11A2-related disorder	Criteria Provided Conflicting Classifications	CA363644121	rs_1483323590	2 SubmittersRCV001929981 RCV003401797
NM_080680.3(COL11A2):c.3031C>T (p.Pro1011Ser)	SNV Germline	Chr6:33172061	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA137067672	rs_997533180	2 SubmittersRCV001962243
NM_080680.3(COL11A2):c.2518C>T (p.Arg840Trp)	SNV Germline	Chr6:33174022	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3750865	rs_769151199	2 SubmittersRCV001959767
NM_080680.3(COL11A2):c.1636C>T (p.Arg546Ter)	SNV Germline	Chr6:33178949	Pathogenic	Condition: not provided COL11A2-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA363659489	rs_149697159	3 SubmittersRCV001958891 RCV004542204
NM_080680.3(COL11A2):c.1562C>T (p.Pro521Leu)	SNV Germline	Chr6:33179122	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3751302	rs_760858147	2 SubmittersRCV001914708
NM_080680.3(COL11A2):c.2651C>T (p.Pro884Leu)	SNV Germline	Chr6:33173533	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3750784	rs_750723746	3 SubmittersRCV001905494 RCV004611915
NM_080680.3(COL11A2):c.2849C>T (p.Pro950Leu)	SNV Germline	Chr6:33172579	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3750710	rs_141465781	2 SubmittersRCV001921485 RCV003355658
NM_080680.3(COL11A2):c.4537C>T (p.Arg1513Trp)	SNV Germline	Chr6:33165762	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3750057	rs_199615717	2 SubmittersRCV001960117
NM_080680.3(COL11A2):c.272G>A (p.Arg91Gln)	SNV Germline	Chr6:33189149	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA3751704	rs_763766268	1 SubmittersRCV001864448
NM_080680.3(COL11A2):c.4208A>T (p.Asp1403Val)	SNV Germline	Chr6:33167092	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA363621901	rs_1353761128	2 SubmittersRCV002000428
NM_080680.3(COL11A2):c.876+1G>A	SNV Germline	Chr6:33185700	Likely pathogenic	Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA363609542	rs_144041807	2 SubmittersRCV002022196
NM_080680.3(COL11A2):c.5203A>T (p.Met1735Leu)	SNV Germline	Chr6:33163686	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA137061094	rs_1048273373	2 SubmittersRCV001879284 RCV006352517
NM_080680.3(COL11A2):c.3496G>T (p.Glu1166Ter)	SNV Germline	Chr6:33170589	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA363630530	rs_1448700521	1 SubmittersRCV001896922
NM_080680.3(COL11A2):c.4922G>A (p.Arg1641Gln)	SNV Germline	Chr6:33164415	Conflicting classifications of pathogenicity	Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA3749955	rs_776247728	2 SubmittersRCV001938922 RCV006458786
NM_080680.3(COL11A2):c.4001G>A (p.Gly1334Glu)	SNV Germline	Chr6:33167812	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA137063137	rs_200078912	3 SubmittersRCV002033294 RCV006352445
NM_080680.3(COL11A2):c.1119+1G>A	SNV Germline	Chr6:33184144	Likely pathogenic	Condition: not provided See cases	Criteria Provided Multiple Submitters No Conflicts	CA3751475	rs_367706373	2 SubmittersRCV002013957 RCV002252751
NM_080680.3(COL11A2):c.696G>C (p.Gln232His)	SNV Germline	Chr6:33186729	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA363610327	rs_1213135480	3 SubmittersRCV001935876 RCV005804364
NM_080680.3(COL11A2):c.4873G>A (p.Val1625Met)	SNV Germline	Chr6:33164464	Conflicting classifications of pathogenicity	Condition: not provided Thyroid cancer, nonmedullary, 1	Criteria Provided Conflicting Classifications	CA3749963	rs_754205211	3 SubmittersRCV001960204 RCV005924250
NM_080680.3(COL11A2):c.4516A>G (p.Ile1506Val)	SNV Germline	Chr6:33165783	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3750059	rs_772312309	3 SubmittersRCV001882195 RCV002554176
NM_080680.3(COL11A2):c.1135C>T (p.Arg379Ter)	SNV Germline	Chr6:33181155	Pathogenic/Likely pathogenic	Condition: not provided Otospondylomegaepiphyseal dysplasia, autosomal dominant	Criteria Provided Multiple Submitters No Conflicts	CA363606814	rs_1417182811	3 SubmittersRCV001979876 RCV005860278
NM_080680.3(COL11A2):c.3059G>A (p.Arg1020Gln)	SNV Germline	Chr6:33171804	Conflicting classifications of pathogenicity	Condition: not provided Autosomal dominant nonsyndromic hearing loss 13	Criteria Provided Conflicting Classifications	CA3750646	rs_779998311	2 SubmittersRCV002010982 RCV002282679
NM_080680.3(COL11A2):c.4999C>T (p.Arg1667Cys)	SNV Germline	Chr6:33164338	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3749939	rs_759322344	2 SubmittersRCV001957663
NM_080680.3(COL11A2):c.2533C>T (p.Pro845Ser)	SNV Germline	Chr6:33173923	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3750851	rs_200993927	3 SubmittersRCV001957745 RCV002562140
NM_080680.3(COL11A2):c.3622C>G (p.Pro1208Ala)	SNV Germline	Chr6:33170061	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3750438	rs_374515005	2 SubmittersRCV002041239
NM_080680.3(COL11A2):c.444-2A>T	SNV Germline	Chr6:33188526	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA363612006	rs_2150621077	1 SubmittersRCV002027132
NM_080680.3(COL11A2):c.3529-5C>T	SNV Germline	Chr6:33170384	Conflicting classifications of pathogenicity	Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA3750466	rs_201941509	2 SubmittersRCV002152639 RCV005058052
NM_080680.3(COL11A2):c.2417G>A (p.Arg806His)	SNV Germline	Chr6:33174540	Conflicting classifications of pathogenicity	Condition: not provided not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3750917	rs_200552277	5 SubmittersRCV002115508 RCV005406342 RCV005804509
NM_080680.3(COL11A2):c.2492C>T (p.Ser831Leu)	SNV Germline	Chr6:33174048	Conflicting classifications of pathogenicity	Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA3750872	rs_121912949	2 SubmittersRCV002122169 RCV004770406
NM_080680.3(COL11A2):c.1378G>T (p.Gly460Trp)	SNV Germline	Chr6:33179787	Conflicting classifications of pathogenicity	Condition: not provided Connective tissue disorder Autosomal dominant nonsyndromic hearing loss 13	Criteria Provided Conflicting Classifications	CA3751370	rs_200635355	5 SubmittersRCV002105932 RCV002277021 RCV004785495
NM_080680.3(COL11A2):c.3961-7C>A	SNV Germline	Chr6:33167859	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA2573140222	rs_1361986900	2 SubmittersRCV002244516
NM_080680.3(COL11A2):c.4294G>T (p.Gly1432Ter)	SNV Germline	Chr6:33166764	Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 53	Criteria Provided Single Submitter	CA363620542	rs_1404134749	1 SubmittersRCV002250856
NM_080680.3(COL11A2):c.3020C>T (p.Pro1007Leu)	SNV Germline	Chr6:33172072	Conflicting classifications of pathogenicity	Condition: not provided COL11A2-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3750669	rs_771092817	4 SubmittersRCV002251674 RCV003418423 RCV006357388
NM_080680.3(COL11A2):c.4399G>T (p.Ala1467Ser)	SNV Germline	Chr6:33166200	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3750099	rs_779385536	3 SubmittersRCV002267331 RCV006357398
NM_080680.3(COL11A2):c.3545C>A (p.Pro1182Gln)	SNV Germline	Chr6:33170363	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA363629760	rs_1411737210	2 SubmittersRCV002269402
NM_080680.3(COL11A2):c.4123-1G>T	SNV Germline	Chr6:33167318	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA363622817	rs_2150524851	1 SubmittersRCV002276147
NM_080680.3(COL11A2):c.3540C>T (p.Gly1180=)	SNV Germline	Chr6:33170368	Conflicting classifications of pathogenicity	Connective tissue disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA3750462	rs_759890035	2 SubmittersRCV002278784 RCV003660920
NM_080680.3(COL11A2):c.3133G>T (p.Gly1045Ter)	SNV Germline	Chr6:33171730	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA363636401	rs_766503812	1 SubmittersRCV002288010
NM_080680.3(COL11A2):c.4482+5G>C	SNV Germline	Chr6:33165926	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA2580074363	rs_2534474285	1 SubmittersRCV002293847
NM_080680.3(COL11A2):c.508C>T (p.Arg170Ter)	SNV Germline	Chr6:33188460	Pathogenic/Likely pathogenic	Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA363611547	rs_1772690053	2 SubmittersRCV002300864
NM_080680.3(COL11A2):c.4840A>C (p.Thr1614Pro)	SNV Germline	Chr6:33164875	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3749990	rs_750038327	3 SubmittersRCV003058811 RCV005804683
NM_080680.3(COL11A2):c.1442C>T (p.Ala481Val)	SNV Germline	Chr6:33179723	Conflicting classifications of pathogenicity	Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA3751359	rs_749620886	4 SubmittersRCV003060666 RCV003994493
NM_080680.3(COL11A2):c.2647G>A (p.Gly883Ser)	SNV Germline	Chr6:33173537	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA3750787	rs_144782720	4 SubmittersRCV003064792 RCV003250724 RCV006687543
NM_080680.3(COL11A2):c.2638G>T (p.Gly880Ter)	SNV Germline	Chr6:33173546	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA363642017	rs_2534941119	1 SubmittersRCV003069744
NM_080680.3(COL11A2):c.1925A>G (p.Gln642Arg)	SNV Germline	Chr6:33177458	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3751117	rs_567782238	2 SubmittersRCV003085395 RCV004614337
NM_080680.3(COL11A2):c.1060T>A (p.Tyr354Asn)	SNV Germline	Chr6:33184204	Conflicting classifications of pathogenicity	Condition: not provided not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3751489	rs_377259695	4 SubmittersRCV003079965 RCV003994498 RCV004978588
NM_080680.3(COL11A2):c.4201C>T (p.Arg1401Trp)	SNV Germline	Chr6:33167099	Conflicting classifications of pathogenicity	Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA3750185	rs_751584939	2 SubmittersRCV003095672 RCV004700950
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	CA363615646	rs_1057341966	2 SubmittersRCV002603778 RCV003340636
NM_080680.3(COL11A2):c.1519C>G (p.Pro507Ala)	SNV Germline	Chr6:33179269	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3751322	rs_759767381	2 SubmittersRCV002636961 RCV004978689
NM_080680.3(COL11A2):c.1457G>A (p.Arg486His)	SNV Germline	Chr6:33179477	Conflicting classifications of pathogenicity	Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA3751340	rs_148825215	3 SubmittersRCV002637717 RCV004783020
NM_080680.3(COL11A2):c.1826G>A (p.Arg609Gln)	SNV Germline	Chr6:33178178	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3751176	rs_760066546	2 SubmittersRCV002620601 RCV005323370
NM_080680.3(COL11A2):c.833C>T (p.Pro278Leu)	SNV Germline	Chr6:33185744	Conflicting classifications of pathogenicity	Condition: not provided COL11A2-related disorder	Criteria Provided Conflicting Classifications	CA3751549	rs_770340871	3 SubmittersRCV002638122 RCV004750305
NM_080680.3(COL11A2):c.2678C>T (p.Pro893Leu)	SNV Germline	Chr6:33173506	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA363641493	rs_1415750932	2 SubmittersRCV002621649 RCV004973519
NM_080680.3(COL11A2):c.5044G>A (p.Val1682Ile)	SNV Germline	Chr6:33164293	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3749933	rs_778248464	2 SubmittersRCV002643455
NM_080680.3(COL11A2):c.5168G>A (p.Arg1723Lys)	SNV Germline	Chr6:33163721	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA137061108	rs_912572166	2 SubmittersRCV002650132
NM_080680.3(COL11A2):c.3734C>T (p.Pro1245Leu)	SNV Germline	Chr6:33169447	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3750385	rs_570577392	2 SubmittersRCV002667516 RCV004612226
NM_080680.3(COL11A2):c.874C>T (p.Gln292Ter)	SNV Germline	Chr6:33185703	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA3751542	rs_766136290	1 SubmittersRCV002694943
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	CA3751251	rs_770271840	2 SubmittersRCV002746403 RCV004007574
NM_080680.3(COL11A2):c.2650C>T (p.Pro884Ser)	SNV Germline	Chr6:33173534	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3750785	rs_756752990	2 SubmittersRCV002913239
NM_080680.3(COL11A2):c.1637G>T (p.Arg546Leu)	SNV Germline	Chr6:33178948	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3751276	rs_199866657	2 SubmittersRCV002909624
NM_080680.3(COL11A2):c.4654G>A (p.Glu1552Lys)	SNV Germline	Chr6:33165645	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3750028	rs_368488233	2 SubmittersRCV002959096 RCV004068240
NM_080680.3(COL11A2):c.1606C>T (p.Arg536Ter)	SNV Germline	Chr6:33179078	Pathogenic/Likely pathogenic	Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA363659914	rs_745874653	3 SubmittersRCV002944235
NM_080680.3(COL11A2):c.653A>G (p.Tyr218Cys)	SNV Germline	Chr6:33186772	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3751603	rs_571279786	3 SubmittersRCV002975669 RCV004614284
NM_080680.3(COL11A2):c.15C>T (p.Ser5=)	SNV Germline	Chr6:33192226	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3751772	rs_765046193	2 SubmittersRCV002942687
NM_080680.3(COL11A2):c.3698G>A (p.Arg1233His)	SNV Germline	Chr6:33169483	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3750392	rs_746286026	3 SubmittersRCV002948847 RCV005535470
NM_080680.3(COL11A2):c.1796C>T (p.Pro599Leu)	SNV Germline	Chr6:33178330	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3751203	rs_780055075	2 SubmittersRCV002982476 RCV004978422
NM_080680.3(COL11A2):c.4387C>T (p.Leu1463Phe)	SNV Germline	Chr6:33166518	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases COL11A2-related disorder	Criteria Provided Conflicting Classifications	CA3750115	rs_780582885	3 SubmittersRCV002979796 RCV003269377 RCV004750237
NM_080680.3(COL11A2):c.4864-1G>C	SNV Germline	Chr6:33164474	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA363616702	rs_2534387868	1 SubmittersRCV003012226
NM_080680.3(COL11A2):c.1119+1G>T	SNV Germline	Chr6:33184144	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA363608132	rs_367706373	1 SubmittersRCV003030521
NM_080680.3(COL11A2):c.3827G>C (p.Gly1276Ala)	SNV Germline	Chr6:33168980	Conflicting classifications of pathogenicity	Condition: not provided not specified Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal dominant Autosomal recessive nonsyndromic hearing loss 53 Autosomal dominant nonsyndromic hearing loss 13 Otospondylomegaepiphyseal dysplasia, autosomal recessive	Criteria Provided Conflicting Classifications	CA363627147	rs_2534685364	3 SubmittersRCV003034866 RCV004700897 RCV005045171
NM_080680.3(COL11A2):c.25C>T (p.Arg9Cys)	SNV Germline	Chr6:33192216	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA363615039	rs_1282223546	2 SubmittersRCV003055830
NM_080680.3(COL11A2):c.2215G>A (p.Gly739Ser)	SNV Germline	Chr6:33176069	Conflicting classifications of pathogenicity	Condition: not provided Fibrochondrogenesis 2 Autosomal recessive nonsyndromic hearing loss 53 Otospondylomegaepiphyseal dysplasia, autosomal recessive Otospondylomegaepiphyseal dysplasia, autosomal dominant Autosomal dominant nonsyndromic hearing loss 13 COL11A2-related disorder	Criteria Provided Conflicting Classifications	CA137071091	rs_763575313	3 SubmittersRCV003035941 RCV005034601 RCV004750251
NM_080680.3(COL11A2):c.2843C>A (p.Pro948Gln)	SNV Germline	Chr6:33172585	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3750713	rs_779187034	2 SubmittersRCV003127051
NM_080680.3(COL11A2):c.3749C>T (p.Pro1250Leu)	SNV Germline	Chr6:33169432	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA363627719	rs_1293342751	2 SubmittersRCV003129501
NM_080680.3(COL11A2):c.4166C>T (p.Pro1389Leu)	SNV Germline	Chr6:33167274	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3750205	rs_781402333	3 SubmittersRCV003145101 RCV006663899
NM_080680.3(COL11A2):c.3852+1G>T	SNV Unknown	Chr6:33168954	Likely pathogenic	Autosomal dominant nonsyndromic hearing loss 13	Criteria Provided Single Submitter	CA363627056	rs_2150532832	1 SubmittersRCV003155546
NM_080680.3(COL11A2):c.4395A>G (p.Gly1465=)	SNV Germline	Chr6:33166204	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3750100	rs_748811826	2 SubmittersRCV003219099
NM_080680.3(COL11A2):c.1179+1G>A	SNV Germline	Chr6:33181110	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3751446	rs_760663026	2 SubmittersRCV003223786
NM_080680.3(COL11A2):c.1408C>T (p.Gln470Ter)	SNV Unknown	Chr6:33179757	Likely pathogenic	Otospondylomegaepiphyseal dysplasia, autosomal recessive	Criteria Provided Single Submitter	CA363606002	rs_2535272417	1 SubmittersRCV003314309
NM_080680.3(COL11A2):c.2033C>A (p.Pro678Gln)	SNV Germline	Chr6:33177029	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3751071	rs_756455152	3 SubmittersRCV003332531 RCV005323417
NM_080680.3(COL11A2):c.3422G>C (p.Gly1141Ala)	SNV Germline	Chr6:33170862	Likely pathogenic	COL11A2-related disorder	Criteria Provided Single Submitter	CA363631476	rs_2534796103	1 SubmittersRCV003404678
NM_080680.3(COL11A2):c.3743C>T (p.Pro1248Leu)	SNV Germline	Chr6:33169438	Conflicting classifications of pathogenicity	COL11A2-related disorder Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA137064282	rs_959259513	3 SubmittersRCV003402966 RCV003553929 RCV004701057
NM_080680.3(COL11A2):c.1490G>A (p.Arg497His)	SNV Germline	Chr6:33179444	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3751338	rs_776761577	2 SubmittersRCV003543868
NM_080680.3(COL11A2):c.2268+1G>C	SNV Germline	Chr6:33176015	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA363648091	rs_797044915	1 SubmittersRCV003547224
NM_080680.3(COL11A2):c.4758C>G (p.Tyr1586Ter)	SNV Germline	Chr6:33164957	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA363617887	rs_1181790213	1 SubmittersRCV003542894
NM_080680.3(COL11A2):c.5145C>T (p.Phe1715=)	SNV Germline	Chr6:33163744	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA449866419	rs_1459036159	2 SubmittersRCV003554398
NM_080680.3(COL11A2):c.181C>T (p.Arg61Ter)	SNV Germline	Chr6:33189371	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA363613181	rs_1455937570	1 SubmittersRCV003562567
NM_080680.3(COL11A2):c.2194A>T (p.Lys732Ter)	SNV Germline	Chr6:33176279	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA363649205	rs_141023125	1 SubmittersRCV003563921
NM_080680.3(COL11A2):c.4760G>A (p.Trp1587Ter)	SNV Germline	Chr6:33164955	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA363617869	rs_1471622578	1 SubmittersRCV003569357
NM_080680.3(COL11A2):c.233-2A>G	SNV Germline	Chr6:33189190	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA363612942	rs_2535554557	1 SubmittersRCV003565919
NM_080680.3(COL11A2):c.4450G>T (p.Glu1484Ter)	SNV Germline	Chr6:33165963	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA363619573	rs_1303980611	1 SubmittersRCV003564410
NM_080680.3(COL11A2):c.4428+1G>A	SNV Germline	Chr6:33166170	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA363619681	rs_2534488667	1 SubmittersRCV003573979
NM_080680.3(COL11A2):c.2899-2A>G	SNV Germline	Chr6:33172380	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA363637266	rs_2534884314	1 SubmittersRCV003574565
NM_080680.3(COL11A2):c.1517G>A (p.Ser506Asn)	SNV Germline	Chr6:33179271	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA137051786	rs_951395468	2 SubmittersRCV003576404
NM_080680.3(COL11A2):c.1872+2T>C	SNV Germline	Chr6:33178130	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA363656085	rs_2535184869	1 SubmittersRCV003576946
NM_080680.3(COL11A2):c.2898+1G>A	SNV Germline	Chr6:33172529	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA363637388	rs_2534890516	1 SubmittersRCV003574080
NM_080680.3(COL11A2):c.3181C>T (p.Arg1061Ter)	SNV Germline	Chr6:33171544	Pathogenic	Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA3750610	rs_776576899	2 SubmittersRCV003664075
NM_080680.3(COL11A2):c.2268+1G>A	SNV Germline	Chr6:33176015	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA363648082	rs_797044915	1 SubmittersRCV003660154
NM_080680.3(COL11A2):c.2542C>T (p.Gln848Ter)	SNV Germline	Chr6:33173914	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA363643123	rs_1242624892	1 SubmittersRCV003665500
NM_080680.3(COL11A2):c.2791-2A>G	SNV Germline	Chr6:33172639	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA363638361	rs_2534898361	1 SubmittersRCV003672625
NM_080680.3(COL11A2):c.1924C>T (p.Gln642Ter)	SNV Germline	Chr6:33177459	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA363654747	rs_1365799072	1 SubmittersRCV003680013
NM_080680.3(COL11A2):c.3524C>T (p.Pro1175Leu)	SNV Germline	Chr6:33170561	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3750484	rs_775793988	2 SubmittersRCV003683066
NM_080680.3(COL11A2):c.1434G>A (p.Leu478=)	SNV Germline	Chr6:33179731	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA449837845	rs_2535270765	2 SubmittersRCV003684022
NM_080680.3(COL11A2):c.745C>T (p.Gln249Ter)	SNV Germline	Chr6:33186680	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA363610210	rs_2535503276	1 SubmittersRCV003681164
NM_080680.3(COL11A2):c.1557+1G>A	SNV Germline	Chr6:33179230	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA363605580	rs_2535244117	1 SubmittersRCV003714035
NM_080680.3(COL11A2):c.2682+2T>G	SNV Germline	Chr6:33173500	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA363641400	rs_1583320505	1 SubmittersRCV003694321
NM_080680.3(COL11A2):c.812T>G (p.Leu271Arg)	SNV Germline	Chr6:33185765	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA363609681	rs_1318659706	2 SubmittersRCV003695144
NM_080680.3(COL11A2):c.3150+5G>A	SNV Germline	Chr6:33171708	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA2739272970	rs_2534839862	1 SubmittersRCV003703816
NM_080680.3(COL11A2):c.3043-2A>T	SNV Germline	Chr6:33171822	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA363636601	rs_2534848742	1 SubmittersRCV003697027
NM_080680.3(COL11A2):c.3032C>G (p.Pro1011Arg)	SNV Germline	Chr6:33172060	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3750666	rs_754998680	2 SubmittersRCV003704618 RCV005323529
NM_080680.3(COL11A2):c.4978C>T (p.Arg1660Cys)	SNV Germline	Chr6:33164359	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3749942	rs_546841812	2 SubmittersRCV003717216
NM_080680.3(COL11A2):c.2158C>T (p.Arg720Ter)	SNV Germline	Chr6:33176444	Pathogenic	Condition: not provided Monogenic hearing loss Otospondylomegaepiphyseal dysplasia, autosomal dominant	Criteria Provided Multiple Submitters No Conflicts	CA3751029	rs_778929272	3 SubmittersRCV003729385 RCV006454818 RCV006555123
NM_080680.3(COL11A2):c.4210G>T (p.Ala1404Ser)	SNV Germline	Chr6:33167090	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications	CA3750183	rs_749171377	2 SubmittersRCV003729415
NM_080680.3(COL11A2):c.3818G>C (p.Gly1273Ala)	SNV Germline	Chr6:33168989	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3750358	rs_759985112	2 SubmittersRCV003734198 RCV005537663
NM_080680.3(COL11A2):c.352C>T (p.Arg118Ter)	SNV Germline	Chr6:33189069	Pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA363612514	rs_1433241638	1 SubmittersRCV003735688
NM_080680.3(COL11A2):c.4127A>G (p.Gln1376Arg)	SNV Germline	Chr6:33167313	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter	CA363622779	rs_2534570132	1 SubmittersRCV003739377
NM_080680.3(COL11A2):c.4798C>T (p.Arg1600Ter)	SNV Germline	Chr6:33164917	Pathogenic/Likely pathogenic	Condition: not provided Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive Otospondylomegaepiphyseal dysplasia, autosomal dominant Autosomal dominant nonsyndromic hearing loss 13 Autosomal recessive nonsyndromic hearing loss 53	Criteria Provided Multiple Submitters No Conflicts	CA363617637	rs_2534413642	3 SubmittersRCV003738958 RCV005037022
NM_080680.3(COL11A2):c.4234C>T (p.His1412Tyr)	SNV Germline	Chr6:33166824	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3750155	rs_757898834	2 SubmittersRCV003835728 RCV004366858
NM_080680.3(COL11A2):c.2159G>C (p.Arg720Pro)	SNV Germline	Chr6:33176443	Conflicting classifications of pathogenicity	Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA363649815	rs_756050324	2 SubmittersRCV003842125 RCV003994596
NM_080680.3(COL11A2):c.1297C>T (p.Arg433Ter)	SNV Germline	Chr6:33180320	Pathogenic/Likely pathogenic	Condition: not provided Autosomal dominant nonsyndromic hearing loss 13 Fibrochondrogenesis 2 Autosomal recessive nonsyndromic hearing loss 53 Otospondylomegaepiphyseal dysplasia, autosomal recessive Otospondylomegaepiphyseal dysplasia, autosomal dominant	Criteria Provided Multiple Submitters No Conflicts	CA363606238	rs_764045158	3 SubmittersRCV003871150 RCV005040599
NM_080680.3(COL11A2):c.4598C>T (p.Ala1533Val)	SNV Germline	Chr6:33165701	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3750042	rs_748442759	2 SubmittersRCV003878518 RCV005806864
NM_080680.3(COL11A2):c.1798C>T (p.Arg600Ter)	SNV Germline	Chr6:33178328	Likely pathogenic	COL11A2-related disorder	No Assertion Criteria Provided	CA3751202	rs_757215211	1 SubmittersRCV003913950
NM_080680.3(COL11A2):c.607-2A>T	SNV Germline	Chr6:33186820	Likely pathogenic	COL11A2-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA363610725	rs_1280126526	2 SubmittersRCV004544209 RCV006564563
NM_080680.3(COL11A2):c.4142G>A (p.Gly1381Glu)	SNV Germline	Chr6:33167298	Conflicting classifications of pathogenicity	not specified Autosomal dominant nonsyndromic hearing loss 13 Autosomal recessive nonsyndromic hearing loss 53 Otospondylomegaepiphyseal dysplasia, autosomal dominant Otospondylomegaepiphyseal dysplasia, autosomal recessive Fibrochondrogenesis 2	Criteria Provided Conflicting Classifications	CA363622651	rs_2534568745	2 SubmittersRCV004526577 RCV005038698
NM_080680.3(COL11A2):c.3852+1G>A	SNV Germline	Chr6:33168954	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter		rs_2150532832	1 SubmittersRCV004590554
NM_080680.3(COL11A2):c.3295G>C (p.Gly1099Arg)	SNV Germline	Chr6:33171288	Conflicting classifications of pathogenicity	not specified 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			2 SubmittersRCV004691077 RCV005038779
NM_080680.3(COL11A2):c.2405G>T (p.Gly802Val)	SNV Germline	Chr6:33174552	Likely pathogenic	COL11A2-related disorder	No Assertion Criteria Provided			1 SubmittersRCV004726545
NM_080680.3(COL11A2):c.3211C>T (p.Pro1071Ser)	SNV Germline	Chr6:33171514	Conflicting classifications of pathogenicity	COL11A2-related disorder Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications			3 SubmittersRCV004726247 RCV004981180 RCV005103646
NM_080680.3(COL11A2):c.3838G>T (p.Glu1280Ter)	SNV Germline	Chr6:33168969	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV004776070
NM_080680.3(COL11A2):c.4991T>C (p.Leu1664Pro)	SNV Germline	Chr6:33164346	Conflicting classifications of pathogenicity	Autosomal dominant nonsyndromic hearing loss 13 Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV004788336 RCV006617200
NM_080680.3(COL11A2):c.4081A>T (p.Lys1361Ter)	SNV Germline	Chr6:33167467	Likely pathogenic	Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive Autosomal dominant nonsyndromic hearing loss 13 Otospondylomegaepiphyseal dysplasia, autosomal dominant Autosomal recessive nonsyndromic hearing loss 53	Criteria Provided Single Submitter			1 SubmittersRCV005039671
NM_080680.3(COL11A2):c.3746G>A (p.Gly1249Glu)	SNV Germline	Chr6:33169435	Likely pathogenic	Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive Autosomal dominant nonsyndromic hearing loss 13 Otospondylomegaepiphyseal dysplasia, autosomal dominant Autosomal recessive nonsyndromic hearing loss 53	Criteria Provided Single Submitter			1 SubmittersRCV005039673
NM_080680.3(COL11A2):c.2567G>A (p.Gly856Glu)	SNV Germline	Chr6:33173889	Likely pathogenic	Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive Autosomal dominant nonsyndromic hearing loss 13 Otospondylomegaepiphyseal dysplasia, autosomal dominant Autosomal recessive nonsyndromic hearing loss 53	Criteria Provided Single Submitter			1 SubmittersRCV005039676
NM_080680.3(COL11A2):c.2062G>A (p.Gly688Arg)	SNV Germline	Chr6:33177000	Likely pathogenic	Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive Autosomal dominant nonsyndromic hearing loss 13 Otospondylomegaepiphyseal dysplasia, autosomal dominant Autosomal recessive nonsyndromic hearing loss 53	Criteria Provided Single Submitter			1 SubmittersRCV005045659
NM_080680.3(COL11A2):c.3636+1G>A	SNV Germline	Chr6:33170046	Pathogenic	Autosomal recessive nonsyndromic hearing loss 53	Criteria Provided Single Submitter			1 SubmittersRCV005052977
NM_080680.3(COL11A2):c.4339G>C (p.Gly1447Arg)	SNV Germline	Chr6:33166566	Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 53	Criteria Provided Single Submitter			1 SubmittersRCV005052978
NM_080680.3(COL11A2):c.4483-1G>C	SNV Germline	Chr6:33165817	Pathogenic	Autosomal recessive nonsyndromic hearing loss 53	Criteria Provided Single Submitter			1 SubmittersRCV005052980
NM_080680.3(COL11A2):c.4553G>C (p.Gly1518Ala)	SNV Germline	Chr6:33165746	Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 53	Criteria Provided Single Submitter			1 SubmittersRCV005052981
NM_080680.3(COL11A2):c.5191C>A (p.Pro1731Thr)	SNV Germline	Chr6:33163698	Conflicting classifications of pathogenicity	Autosomal recessive nonsyndromic hearing loss 53 Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV005052982 RCV005402228
NM_080680.3(COL11A2):c.446G>A (p.Trp149Ter)	SNV Germline	Chr6:33188522	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005137773
NM_080680.3(COL11A2):c.1819-2A>G	SNV Germline	Chr6:33178187	Likely pathogenic	Condition: not provided Autosomal dominant nonsyndromic hearing loss 13	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005138357 RCV005415693
NM_080680.3(COL11A2):c.2722C>T (p.Gln908Ter)	SNV Germline	Chr6:33173362	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005150474
NM_080680.3(COL11A2):c.914C>A (p.Ser305Ter)	SNV Germline	Chr6:33185017	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005143451
NM_080680.3(COL11A2):c.4661T>A (p.Ile1554Asn)	SNV Germline	Chr6:33165638	Conflicting classifications of pathogenicity	Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV005155968
NM_080680.3(COL11A2):c.1825C>T (p.Arg609Ter)	SNV Germline	Chr6:33178179	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005152050
NM_080680.3(COL11A2):c.2023C>T (p.Gln675Ter)	SNV Germline	Chr6:33177039	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005154670
NM_080680.3(COL11A2):c.2620G>T (p.Gly874Ter)	SNV Germline	Chr6:33173709	Pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005201156
NM_080680.3(COL11A2):c.4338+1G>C	SNV Germline	Chr6:33166719	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV005205777
NM_080680.3(COL11A2):c.1360-2A>T	SNV Germline	Chr6:33179807	Likely pathogenic	COL11A2-related disorder	Criteria Provided Single Submitter			1 SubmittersRCV005229613
NM_080680.3(COL11A2):c.840T>A (p.Tyr280Ter)	SNV Unknown	Chr6:33185737	Pathogenic	Autosomal recessive nonsyndromic hearing loss 53	Criteria Provided Single Submitter			1 SubmittersRCV005623260
NM_080680.3(COL11A2):c.1573C>T (p.Gln525Ter)	SNV Unknown	Chr6:33179111	Pathogenic	Autosomal recessive nonsyndromic hearing loss 53	Criteria Provided Single Submitter			1 SubmittersRCV005623261
NM_080680.3(COL11A2):c.3583-1G>A	SNV Germline	Chr6:33170101	Likely pathogenic	Otospondylomegaepiphyseal dysplasia, autosomal recessive	No Assertion Criteria Provided			1 SubmittersRCV006456085
NM_080680.3(COL11A2):c.1611+2T>C	SNV Germline	Chr6:33179071	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV006250343
NM_080680.3(COL11A2):c.3341G>A (p.Gly1114Asp)	SNV Germline	Chr6:33171139	Likely pathogenic	Monogenic hearing loss	Criteria Provided Single Submitter			1 SubmittersRCV006455018
NM_080680.3(COL11A2):c.4153C>T (p.Gln1385Ter)	SNV Germline	Chr6:33167287	Pathogenic	Otospondylomegaepiphyseal dysplasia, autosomal recessive	Criteria Provided Single Submitter			1 SubmittersRCV006456134
NM_080680.3(COL11A2):c.3150+1G>A	SNV Germline	Chr6:33171712	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV006529302
NM_080680.3(COL11A2):c.939+1G>C	SNV Germline	Chr6:33184991	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV006519187
NM_080680.3(COL11A2):c.1359+1G>T	SNV Germline	Chr6:33180257	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV006525164
NM_080680.3(COL11A2):c.4123-1G>C	SNV Germline	Chr6:33167318	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV006593970
NM_080680.3(COL11A2):c.2430+2T>G	SNV Germline	Chr6:33174525	Likely pathogenic	Condition: not provided	Criteria Provided Single Submitter			1 SubmittersRCV006598145
NM_080680.3(COL11A2):c.1901G>C (p.Gly634Ala)	SNV Unknown	Chr6:33177678	Likely pathogenic	Otospondylomegaepiphyseal dysplasia, autosomal dominant	Criteria Provided Single Submitter			1 SubmittersRCV006597542
NM_080680.3(COL11A2):c.3640G>T (p.Glu1214Ter)	SNV Unknown	Chr6:33169881	Pathogenic	Otospondylomegaepiphyseal dysplasia, autosomal recessive	Criteria Provided Single Submitter			1 SubmittersRCV006697045
NM_080680.3(COL11A2):c.444-2A>G	SNV Germline	Chr6:33188526	Likely pathogenic	Autosomal recessive nonsyndromic hearing loss 53 Fibrochondrogenesis 2 Autosomal dominant nonsyndromic hearing loss 13 Otospondylomegaepiphyseal dysplasia, autosomal recessive Otospondylomegaepiphyseal dysplasia, autosomal dominant	Criteria Provided Single Submitter			1 SubmittersRCV006741632

NM_080680.3(COL11A2):c.4392+1G>A

SNV
Germline

Chr6:33166512

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA281687

rs_750995470

4 SubmittersRCV000018657 RCV001659702 RCV006704485

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

SNV
Germline

Chr6:33177216

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA127087

rs_121912945

4 SubmittersRCV000018658 RCV001851920 RCV005237391

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.3100C>T (p.Arg1034Cys)

SNV
Germline

Chr6:33171763

Pathogenic/Likely pathogenic

Autosomal dominant nonsyndromic hearing loss 13
Rare genetic deafness
Condition: not provided
COL11A2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA257707

rs_121912947

7 SubmittersRCV000018662 RCV000605765 RCV001091818 RCV003398542

NM_080680.3(COL11A2):c.2423G>A (p.Gly808Glu)

SNV
Germline

Chr6:33174534

Pathogenic

Autosomal dominant nonsyndromic hearing loss 13

No Assertion Criteria Provided

CA257711

rs_121912948

1 SubmittersRCV000018663

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
COL11A2-related disorder
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA281690

rs_121912950

8 SubmittersRCV000018665 RCV000761299 RCV001268065 RCV004748528 RCV006342077

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

SNV
Germline

Chr6:33167822

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA127099

rs_121912951

4 SubmittersRCV000018666 RCV002513107 RCV002496405

NM_080680.3(COL11A2):c.1861C>A (p.Pro621Thr)

SNV
Germline

Chr6:33178143

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA212599

rs_121912952

9 SubmittersRCV000018667 RCV000217775 RCV000584845 RCV001375391 RCV004791228 RCV005042063

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
Connective tissue disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA138614

rs_145499142

12 SubmittersRCV000039826 RCV000268570 RCV000305029 RCV000659336 RCV000709864

NM_080680.3(COL11A2):c.109G>T (p.Ala37Ser)

SNV
Germline

Chr6:33189443

Pathogenic

Nonsyndromic Deafness
Autosomal recessive nonsyndromic hearing loss 53
Condition: not provided

Criteria Provided
Single Submitter

CA212610

rs_606231410

3 SubmittersRCV000148342 RCV000202598 RCV003556192

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

SNV
Germline

Chr6:33165616

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA175557

rs_34055850

9 SubmittersRCV000150347 RCV000299642 RCV000404657 RCV001521033

NM_080680.3(COL11A2):c.4495G>A (p.Glu1499Lys)

SNV
Germline

Chr6:33165804

Conflicting classifications of pathogenicity

not specified
Condition: not provided
COL11A2-related disorder

Criteria Provided
Conflicting Classifications

CA183320

rs_727504543

4 SubmittersRCV000155698 RCV000766448 RCV004545749

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

SNV
Germline

Chr6:33168547

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA183082

rs_727504460

9 SubmittersRCV000155584 RCV000261111 RCV000353712 RCV000477787 RCV003907479 RCV001651028 RCV005394529

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

SNV
Germline

Chr6:33170067

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA182113

rs_147576338

7 SubmittersRCV000155069 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
Connective tissue disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA182115

rs_138380958

10 SubmittersRCV000155070 RCV000261044 RCV000369862 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.2186G>A (p.Arg729Gln)

SNV
Germline

Chr6:33176287

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA175569

rs_61730262

9 SubmittersRCV000150354 RCV000311596 RCV000365079 RCV001519340 RCV002505143 RCV005801743

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

SNV
Germline

Chr6:33180330

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA175571

rs_549704545

6 SubmittersRCV000150355 RCV000263155 RCV000333620 RCV001552633

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

SNV
Germline

Chr6:33164337

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA182105

rs_146555195

11 SubmittersRCV000155065 RCV000271332 RCV000326882 RCV000427587 RCV000680464 RCV001804866

NM_080680.3(COL11A2):c.4863+7G>A

SNV
Germline

Chr6:33164845

Conflicting classifications of pathogenicity

not specified
Condition: not provided
COL11A2-related disorder

Criteria Provided
Conflicting Classifications

CA183322

rs_200947059

8 SubmittersRCV000155699 RCV000724273 RCV003907480

NM_080680.3(COL11A2):c.4705C>T (p.Arg1569Cys)

SNV
Germline

Chr6:33165594

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA182788

rs_727504458

5 SubmittersRCV000155445 RCV000766673 RCV002516131 RCV005042304

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

SNV
Germline

Chr6:33167508

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA175561

rs_142890313

5 SubmittersRCV000150349 RCV000764645 RCV001560335

NM_080680.3(COL11A2):c.3878G>A (p.Arg1293Gln)

SNV
Germline

Chr6:33168734

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA184316

rs_727504832

3 SubmittersRCV000156172 RCV001582632

NM_080680.3(COL11A2):c.3622C>T (p.Pro1208Ser)

SNV
Germline

Chr6:33170061

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA182111

rs_374515005

5 SubmittersRCV000155068 RCV000766988

NM_080680.3(COL11A2):c.3583-3C>T

SNV
Germline

Chr6:33170103

Conflicting classifications of pathogenicity

not specified
Condition: not provided
COL11A2-related disorder

Criteria Provided
Conflicting Classifications

CA175563

rs_727502939

4 SubmittersRCV000150350 RCV001719930 RCV003895034

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

SNV
Germline

Chr6:33172356

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA183327

rs_376797260

6 SubmittersRCV000155702 RCV000680469 RCV000709936 RCV001154084 RCV001154083 RCV001154085 RCV001537799

NM_080680.3(COL11A2):c.1427C>T (p.Ala476Val)

SNV
Germline

Chr6:33179738

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA184243

rs_373983482

3 SubmittersRCV000156136 RCV002056112 RCV005532589

NM_080680.3(COL11A2):c.1607G>A (p.Arg536Gln)

SNV
Germline

Chr6:33179077

Conflicting classifications of pathogenicity

Larsen-like syndrome, B3GAT3 type
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA236250

rs_770888294

4 SubmittersRCV000171392 RCV000998580 RCV004700527

NM_080680.3(COL11A2):c.654T>A (p.Tyr218Ter)

SNV
Germline

Chr6:33186771

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA236252

rs_786205578

1 SubmittersRCV000171393

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
COL11A2-related disorder
Hearing impairment

Criteria Provided
Conflicting Classifications

CA240966

rs_199866657

10 SubmittersRCV000175243 RCV001151604 RCV001151605 RCV001154613 RCV002516668 RCV004748624 RCV005625370

NM_080680.3(COL11A2):c.2017-5T>G

SNV
Germline

Chr6:33177050

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Connective tissue disorder
COL11A2-related disorder

Criteria Provided
Conflicting Classifications

CA242579

rs_200523422

7 SubmittersRCV000222871 RCV000418538 RCV002277379 RCV003977437

NM_080680.3(COL11A2):c.480T>G (p.Ser160=)

SNV
Germline

Chr6:33188488

Conflicting classifications of pathogenicity

not specified
Condition: not provided
COL11A2-related disorder

Criteria Provided
Conflicting Classifications

CA245463

rs_142969513

7 SubmittersRCV000178380 RCV000724443 RCV003967430

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

SNV
Germline

Chr6:33165647

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA246924

rs_145343609

8 SubmittersRCV000218581 RCV000328722 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 recessive
Otospondylomegaepiphyseal dysplasia, autosomal dominant

Criteria Provided
Conflicting Classifications

CA246955

rs_140017436

4 SubmittersRCV000724553 RCV001157662 RCV001157660 RCV001157661

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

SNV
Germline

Chr6:33185042

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA247358

rs_139116571

10 SubmittersRCV000223442 RCV000678342 RCV000724260 RCV000764647 RCV001253705 RCV002277425 RCV004748639 RCV005361084

NM_080680.3(COL11A2):c.2268+1G>T

SNV
Germline

Chr6:33176015

Likely pathogenic

Inborn genetic diseases

Criteria Provided
Single Submitter

CA204779

rs_797044915

1 SubmittersRCV000190748

NM_080680.3(COL11A2):c.2662C>A (p.Pro888Thr)

SNV
Germline

Chr6:33173522

Pathogenic

Autosomal recessive nonsyndromic hearing loss 53

No Assertion Criteria Provided

CA248587

rs_864309523

1 SubmittersRCV000202578

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

SNV
Germline

Chr6:33186737

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3751596

rs_141430703

10 SubmittersRCV000217677 RCV000348697 RCV000393362 RCV000490461 RCV001510421 RCV002277571 RCV003947688

NM_080680.3(COL11A2):c.4786C>T (p.Arg1596Trp)

SNV
Germline

Chr6:33164929

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3749995

rs_778962979

2 SubmittersRCV000223577 RCV003727636

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

SNV
Germline

Chr6:33164973

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3749999

rs_555680585

6 SubmittersRCV000222702 RCV000284515 RCV000345137 RCV000840675 RCV002277577 RCV003929887

NM_080680.3(COL11A2):c.4559G>A (p.Arg1520His)

SNV
Germline

Chr6:33165740

Conflicting classifications of pathogenicity

not specified
9 conditions
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3750050

rs_772567850

3 SubmittersRCV000214943 RCV000414801 RCV001853439

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

SNV
Germline

Chr6:33166522

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3750117

rs_148262058

6 SubmittersRCV000219726 RCV000340894 RCV000302355 RCV001705187 RCV003907789

NM_080680.3(COL11A2):c.4291C>T (p.Arg1431Trp)

SNV
Germline

Chr6:33166767

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3750147

rs_369126897

4 SubmittersRCV000222003 RCV000727342

NM_080680.3(COL11A2):c.3529-3C>T

SNV
Germline

Chr6:33170382

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3750464

rs_753183777

3 SubmittersRCV000221943 RCV001567032

NM_080680.3(COL11A2):c.1880G>A (p.Arg627Gln)

SNV
Germline

Chr6:33177699

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3751141

rs_528989984

3 SubmittersRCV000221653 RCV001589125

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

SNV
Germline

Chr6:33178195

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3751180

rs_3129202

6 SubmittersRCV000219221 RCV001154509 RCV001154508 RCV001154510 RCV001486639

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

SNV
Germline

Chr6:33178983

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3751282

rs_182657680

9 SubmittersRCV000219751 RCV000374335 RCV000261045 RCV000659335 RCV001513105

NM_080680.3(COL11A2):c.1489C>T (p.Arg497Cys)

SNV
Germline

Chr6:33179445

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Inborn genetic diseases
COL11A2-related disorder

Criteria Provided
Conflicting Classifications

CA3751339

rs_752552097

5 SubmittersRCV000213887 RCV001589124 RCV004020613 RCV004748662

NM_080680.3(COL11A2):c.1119+1G>C

SNV
Germline

Chr6:33184144

Conflicting classifications of pathogenicity

not specified
COL11A2-related disorder

Criteria Provided
Conflicting Classifications

CA10576688

rs_367706373

2 SubmittersRCV000220795 RCV003417774

NM_080680.3(COL11A2):c.854C>T (p.Thr285Met)

SNV
Germline

Chr6:33185723

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3751545

rs_747064765

4 SubmittersRCV000218516 RCV001658016 RCV005318350

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

SNV
Germline

Chr6:33186673

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3751587

rs_201399429

3 SubmittersRCV000215858 RCV000262918 RCV000372958 RCV002517538

NM_080680.3(COL11A2):c.517C>T (p.Arg173Trp)

SNV
Germline

Chr6:33188451

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3751646

rs_146522169

4 SubmittersRCV000215299 RCV000711213

NM_080680.3(COL11A2):c.233-8G>T

SNV
Germline

Chr6:33189196

Conflicting classifications of pathogenicity

not specified
Condition: not provided
COL11A2-related disorder

Criteria Provided
Conflicting Classifications

CA3751709

rs_375268140

6 SubmittersRCV000214662 RCV000727445 RCV003955271

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

SNV
Germline

Chr6:33189322

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3751735

rs_35765893

8 SubmittersRCV000214622 RCV000274718 RCV000275901 RCV001722140 RCV002277574 RCV003165522

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

SNV
Germline

Chr6:33163825

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3749912

rs_200548977

7 SubmittersRCV001153347 RCV001153348 RCV001155958 RCV001421993 RCV003891980 RCV005406994

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

SNV
Germline

Chr6:33164861

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3749989

rs_151319255

8 SubmittersRCV000275678 RCV001249267 RCV003165728 RCV005238824

NM_080680.3(COL11A2):c.1382G>A (p.Gly461Asp)

SNV
Germline

Chr6:33179783

Conflicting classifications of pathogenicity

not specified
Connective tissue disorder
Condition: not provided
Hearing impairment

Criteria Provided
Conflicting Classifications

CA3751367

rs_141140798

7 SubmittersRCV000281273 RCV000659333 RCV000725559 RCV001375359

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

Fibrochondrogenesis 2
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3750023

rs_370966667

4 SubmittersRCV000316797 RCV000359864 RCV000725854

NM_080680.3(COL11A2):c.3352C>A (p.Gln1118Lys)

SNV
Germline

Chr6:33171128

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA10605498

rs_369849667

3 SubmittersRCV000353277

NM_080680.3(COL11A2):c.1298G>A (p.Arg433Gln)

SNV
Germline

Chr6:33180319

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3751387

rs_762813373

3 SubmittersRCV000362511

NM_080680.3(COL11A2):c.3325C>T (p.Pro1109Ser)

SNV
Germline

Chr6:33171155

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3750555

rs_761687232

2 SubmittersRCV000332262

NM_080680.3(COL11A2):c.4149A>G (p.Thr1383=)

SNV
Germline

Chr6:33167291

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3750206

rs_746019545

2 SubmittersRCV000394359

NM_080680.3(COL11A2):c.2536C>T (p.Arg846Trp)

SNV
Germline

Chr6:33173920

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3750850

rs_149071920

5 SubmittersRCV000290535 RCV001731566 RCV005031866

NM_080680.3(COL11A2):c.4767C>T (p.Asp1589=)

SNV
Germline

Chr6:33164948

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA10606444

rs_886044178

2 SubmittersRCV000405179

NM_080680.3(COL11A2):c.3182G>A (p.Arg1061Gln)

SNV
Germline

Chr6:33171543

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3750609

rs_528982644

3 SubmittersRCV000400579

NM_080680.3(COL11A2):c.5106G>A (p.Thr1702=)

SNV
Germline

Chr6:33163783

Conflicting classifications of pathogenicity

not specified
Condition: not provided
COL11A2-related disorder

Criteria Provided
Conflicting Classifications

CA3749903

rs_752823488

5 SubmittersRCV000314761 RCV000726587 RCV003957525

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

SNV
Germline

Chr6:33165648

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3750029

rs_141254777

7 SubmittersRCV000294143 RCV000391825 RCV000498284 RCV000766647 RCV003401372

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

SNV
Germline

Chr6:33165713

Conflicting classifications of pathogenicity

Otospondylomegaepiphyseal dysplasia, autosomal recessive
Fibrochondrogenesis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3750047

rs_201315111

3 SubmittersRCV000354788 RCV000406272 RCV001553516

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

SNV
Germline

Chr6:33169867

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3750420

rs_146962984

6 SubmittersRCV000331502 RCV000386057 RCV000605457 RCV002058602 RCV003957835

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

SNV
Germline

Chr6:33171152

Conflicting classifications of pathogenicity

Fibrochondrogenesis 2
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3750551

rs_141164483

4 SubmittersRCV000355182 RCV000405447 RCV001580488

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

SNV
Germline

Chr6:33172580

Conflicting classifications of pathogenicity

Otospondylomegaepiphyseal dysplasia, autosomal recessive
Fibrochondrogenesis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3750711

rs_768902062

3 SubmittersRCV000282164 RCV000337227 RCV001770281

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

SNV
Germline

Chr6:33180977

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3751427

rs_201179101

5 SubmittersRCV001584080 RCV000289243 RCV000388187 RCV000506175

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

SNV
Germline

Chr6:33164386

Conflicting classifications of pathogenicity

Otospondylomegaepiphyseal dysplasia, autosomal recessive
Fibrochondrogenesis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3749945

rs_766589324

2 SubmittersRCV000338427 RCV000374418 RCV001850898

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

SNV
Germline

Chr6:33171771

Conflicting classifications of pathogenicity

Otospondylomegaepiphyseal dysplasia, autosomal recessive
Fibrochondrogenesis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3750643

rs_528009333

4 SubmittersRCV000274780 RCV000317488 RCV000596294

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

SNV
Germline

Chr6:33176291

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3751010

rs_188490457

6 SubmittersRCV000333898 RCV000353689 RCV000602277 RCV001559646 RCV004748743

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

SNV
Germline

Chr6:33188515

Conflicting classifications of pathogenicity

Fibrochondrogenesis 2
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3751656

rs_147115504

2 SubmittersRCV000290354 RCV000390399 RCV002058606

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

SNV
Germline

Chr6:33169456

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3750387

rs_534570825

6 SubmittersRCV000609757 RCV000408334 RCV000408369 RCV000657971 RCV002523565

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

SNV
Germline

Chr6:33171316

Conflicting classifications of pathogenicity

Otospondylomegaepiphyseal dysplasia, autosomal recessive
Fibrochondrogenesis 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3750581

rs_781462105

2 SubmittersRCV000266996 RCV000291601 RCV002058603

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

SNV
Germline

Chr6:33174541

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3750918

rs_376355040

3 SubmittersRCV000268237 RCV000360580 RCV002058604 RCV004975478

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

SNV
Germline

Chr6:33178293

Conflicting classifications of pathogenicity

Fibrochondrogenesis 2
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3751191

rs_549588854

2 SubmittersRCV000266997 RCV000324551 RCV002524475

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

SNV
Germline

Chr6:33168729

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3750325

rs_758507327

5 SubmittersRCV000264819 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
Condition: not provided
not specified
COL11A2-related disorder

Criteria Provided
Conflicting Classifications

CA10626652

rs_886061315

6 SubmittersRCV000292046 RCV000293307 RCV001850900 RCV004767243 RCV004748742

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

SNV
Germline

Chr6:33175679

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3750960

rs_745568808

7 SubmittersRCV000282672 RCV000374777 RCV000680470 RCV001338547 RCV003957836 RCV006701386

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

SNV
Germline

Chr6:33179784

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3751368

rs_764998691

4 SubmittersRCV000346166 RCV000386159 RCV001662334 RCV006690377

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

SNV
Germline

Chr6:33192236

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3751773

rs_568840295

4 SubmittersRCV000289533 RCV000342251 RCV002461106 RCV003387834

NM_080680.3(COL11A2):c.4430G>T (p.Gly1477Val)

SNV
Unknown

Chr6:33165983

Likely pathogenic

Sensorineural hearing loss disorder

Criteria Provided
Single Submitter

CA3750080

rs_745434198

1 SubmittersRCV000415302

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

SNV
Germline

Chr6:33171294

Conflicting classifications of pathogenicity

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

CA3750574

rs_138045609

3 SubmittersRCV000764646 RCV000437358

NM_080680.3(COL11A2):c.3381G>C (p.Glu1127Asp)

SNV
Germline

Chr6:33170903

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3750521

rs_768988213

2 SubmittersRCV000423321

NM_080680.3(COL11A2):c.5083C>T (p.Arg1695Trp)

SNV
Germline

Chr6:33163806

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3749909

rs_534700620

2 SubmittersRCV000436866

NM_080680.3(COL11A2):c.1427C>A (p.Ala476Glu)

SNV
Germline

Chr6:33179738

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3751362

rs_373983482

3 SubmittersRCV000422137

NM_080680.3(COL11A2):c.706C>T (p.Pro236Ser)

SNV
Germline

Chr6:33186719

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Connective tissue disorder

Criteria Provided
Conflicting Classifications

CA3751591

rs_35116188

7 SubmittersRCV000419219 RCV000585218 RCV000659330

NM_080680.3(COL11A2):c.3142G>A (p.Gly1048Ser)

SNV
Germline

Chr6:33171721

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16605527

rs_1057524643

3 SubmittersRCV000429567 RCV005044647

NM_080680.3(COL11A2):c.2179G>T (p.Gly727Ter)

SNV
Germline

Chr6:33176294

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA16605528

rs_768569721

1 SubmittersRCV000425711

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16618279

rs_911722283

3 SubmittersRCV000487207 RCV002489177

NM_080680.3(COL11A2):c.1879C>T (p.Arg627Ter)

SNV
Germline

Chr6:33177700

Pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3751142

rs_374156844

3 SubmittersRCV000487615

NM_080680.3(COL11A2):c.2555G>A (p.Arg852Gln)

SNV
Germline

Chr6:33173901

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Connective tissue disorder
Hearing impairment

Criteria Provided
Conflicting Classifications

CA3750846

rs_147927477

12 SubmittersRCV000489315 RCV000766588 RCV000659339 RCV001375473

NM_080680.3(COL11A2):c.190C>T (p.Arg64Ter)

SNV
Germline

Chr6:33189362

Pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA363613163

rs_1554226209

2 SubmittersRCV000497961

NM_080680.3(COL11A2):c.3173C>T (p.Pro1058Leu)

SNV
Germline

Chr6:33171552

Conflicting classifications of pathogenicity

not specified
Condition: not provided
COL11A2-related disorder

Criteria Provided
Conflicting Classifications

CA3750611

rs_562253142

7 SubmittersRCV000503631 RCV000657862 RCV003932823

NM_080680.3(COL11A2):c.5170C>T (p.Arg1724Trp)

SNV
Germline

Chr6:33163719

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3749896

rs_762351406

2 SubmittersRCV000507084 RCV002524911

NM_080680.3(COL11A2):c.1363C>T (p.Arg455Trp)

SNV
Germline

Chr6:33179802

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3751372

rs_144862714

4 SubmittersRCV000513605

NM_080680.3(COL11A2):c.939+1G>A

SNV
Germline

Chr6:33184991

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3751522

rs_750173113

5 SubmittersRCV000512809 RCV005034055

NM_080680.3(COL11A2):c.939+8T>C

SNV
Germline

Chr6:33184984

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA658653774

rs_1554223902

2 SubmittersRCV000514655

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

5 SubmittersRCV000521843 RCV000678343 RCV003960237

NM_080680.3(COL11A2):c.361C>T (p.Arg121Cys)

SNV
Germline

Chr6:33189060

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3751685

rs_553025178

3 SubmittersRCV000520193

NM_080680.3(COL11A2):c.2583+1G>A

SNV
Germline

Chr6:33173872

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA363642862

rs_1554218503

1 SubmittersRCV000579175

NM_080680.3(COL11A2):c.529C>T (p.Arg177Ter)

SNV
Germline

Chr6:33188439

Pathogenic/Likely pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3751643

rs_764450149

2 SubmittersRCV000578641

NM_080680.3(COL11A2):c.12C>T (p.Cys4=)

SNV
Germline

Chr6:33192229

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA137054928

rs_914781832

2 SubmittersRCV000593796

NM_080680.3(COL11A2):c.1180-4A>G

SNV
Germline

Chr6:33181009

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA658796738

rs_1554221961

2 SubmittersRCV000594866

NM_080680.3(COL11A2):c.2932G>A (p.Asp978Asn)

SNV
Germline

Chr6:33172345

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3750696

rs_772537556

3 SubmittersRCV000591205

NM_080680.3(COL11A2):c.1380G>A (p.Gly460=)

SNV
Germline

Chr6:33179785

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3751369

rs_373168555

3 SubmittersRCV000591588

NM_080680.3(COL11A2):c.3877C>T (p.Arg1293Ter)

SNV
Germline

Chr6:33168735

Pathogenic/Likely pathogenic

Condition: not provided
Oculodentodigital dysplasia, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA3750328

rs_746754428

3 SubmittersRCV000591888 RCV005645112

NM_080680.3(COL11A2):c.4676G>A (p.Arg1559Gln)

SNV
Germline

Chr6:33165623

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA3750022

rs_774845879

4 SubmittersRCV000593018 RCV004965598 RCV006459644

NM_080680.3(COL11A2):c.844G>A (p.Val282Met)

SNV
Germline

Chr6:33185733

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3751547

rs_146432857

2 SubmittersRCV000593324

NM_080680.3(COL11A2):c.1451C>T (p.Ala484Val)

SNV
Germline

Chr6:33179483

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant nonsyndromic hearing loss 33

Criteria Provided
Conflicting Classifications

CA3751342

rs_143965711

4 SubmittersRCV000597123 RCV004527391

NM_080680.3(COL11A2):c.2841C>T (p.Pro947=)

SNV
Germline

Chr6:33172587

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3750714

rs_565891154

4 SubmittersRCV000596184 RCV005431795

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

SNV
Germline

Chr6:33163801

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3749906

rs_142893093

5 SubmittersRCV000610002 RCV001152080 RCV001152081 RCV001152079 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.4190T>G (p.Leu1397Arg)

SNV
Germline

Chr6:33167110

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3750187

rs_571981688

4 SubmittersRCV000608919 RCV001591367 RCV004024895

NM_080680.3(COL11A2):c.3799-9C>G

SNV
Germline

Chr6:33169017

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3750361

rs_762361602

2 SubmittersRCV000611433 RCV002528791

NM_080680.3(COL11A2):c.2065C>T (p.Pro689Ser)

SNV
Germline

Chr6:33176997

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3751063

rs_766440021

2 SubmittersRCV000600164 RCV002531148

NM_080680.3(COL11A2):c.4943A>T (p.His1648Leu)

SNV
Germline

Chr6:33164394

Conflicting classifications of pathogenicity

Rare genetic deafness
not specified

Criteria Provided
Conflicting Classifications

CA363616329

rs_1487325262

2 SubmittersRCV000610034 RCV005898794

NM_080680.3(COL11A2):c.4055C>T (p.Pro1352Leu)

SNV
Germline

Chr6:33167493

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3750239

rs_763995767

3 SubmittersRCV000605192 RCV001860244 RCV002529319

NM_080680.3(COL11A2):c.3116G>T (p.Gly1039Val)

SNV
Germline

Chr6:33171747

Conflicting classifications of pathogenicity

Rare genetic deafness
Condition: not provided

Criteria Provided
Conflicting Classifications

CA363636462

rs_1554216943

2 SubmittersRCV000602313 RCV006463518

NM_080680.3(COL11A2):c.1221G>A (p.Ala407=)

SNV
Germline

Chr6:33180964

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA449840082

rs_1554221935

2 SubmittersRCV000604350 RCV006463556

NM_080680.3(COL11A2):c.1720-4G>T

SNV
Germline

Chr6:33178492

Conflicting classifications of pathogenicity

not specified
Condition: not provided
COL11A2-related disorder

Criteria Provided
Conflicting Classifications

CA3751227

rs_369678506

4 SubmittersRCV000613122 RCV000728410 RCV003905620

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

Criteria Provided
Conflicting Classifications

CA3750756

rs_779878105

4 SubmittersRCV001156603 RCV001156604 RCV001156605 RCV001698018 RCV003962793

NM_080680.3(COL11A2):c.3679C>T (p.Pro1227Ser)

SNV
Germline

Chr6:33169842

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3750415

rs_142500487

3 SubmittersRCV000658158 RCV004026024

NM_080680.3(COL11A2):c.982C>T (p.Gln328Ter)

SNV
Germline

Chr6:33184282

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA363608979

rs_1554223504

1 SubmittersRCV000659048

NM_080680.3(COL11A2):c.4040C>T (p.Pro1347Leu)

SNV
Germline

Chr6:33167508

Conflicting classifications of pathogenicity

Connective tissue disorder
Condition: not provided
COL11A2-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3750244

rs_142890313

5 SubmittersRCV000659343 RCV001569344 RCV004748886 RCV005540134

NM_080680.3(COL11A2):c.3950T>C (p.Leu1317Pro)

SNV
Germline

Chr6:33168529

Conflicting classifications of pathogenicity

Connective tissue disorder
Condition: not provided
Nonsyndromic genetic hearing loss

Criteria Provided
Conflicting Classifications

CA3750302

rs_145871842

6 SubmittersRCV000659342 RCV001724120 RCV005357877

NM_080680.3(COL11A2):c.2560G>A (p.Ala854Thr)

SNV
Germline

Chr6:33173896

Conflicting classifications of pathogenicity

Connective tissue disorder
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3750845

rs_371864924

6 SubmittersRCV000659340 RCV001572568 RCV005540133

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

CA3750987

rs_202032297

3 SubmittersRCV000659338 RCV001151380 RCV001151381 RCV001151382 RCV002534314

NM_080680.3(COL11A2):c.1817C>T (p.Ser606Leu)

SNV
Germline

Chr6:33178309

Conflicting classifications of pathogenicity

Connective tissue disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3751198

rs_147328015

3 SubmittersRCV000659337 RCV001861710

NM_080680.3(COL11A2):c.544G>A (p.Val182Ile)

SNV
Germline

Chr6:33188424

Conflicting classifications of pathogenicity

Connective tissue disorder
not specified
Condition: not provided
Inborn genetic diseases
COL11A2-related disorder

Criteria Provided
Conflicting Classifications

CA3751639

rs_375937729

11 SubmittersRCV000659329 RCV000825903 RCV001564237 RCV003163035 RCV004748885

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

CA3751606

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

Criteria Provided
Conflicting Classifications

CA3750984

rs_201076557

7 SubmittersRCV000680471 RCV001151377 RCV001151378 RCV001151379 RCV001475501 RCV002298737 RCV004748899

NM_080680.3(COL11A2):c.1498C>T (p.Pro500Ser)

SNV
Germline

Chr6:33179436

Conflicting classifications of pathogenicity

Connective tissue disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3751336

rs_747029402

3 SubmittersRCV000680473 RCV000998581

NM_080680.3(COL11A2):c.2637T>C (p.Pro879=)

SNV
Germline

Chr6:33173547

Conflicting classifications of pathogenicity

Condition: not provided
COL11A2-related disorder

Criteria Provided
Conflicting Classifications

CA3750789

rs_199677738

3 SubmittersRCV000733028 RCV004748947

NM_080680.3(COL11A2):c.5121G>T (p.Gln1707His)

SNV
Germline

Chr6:33163768

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3749900

rs_138667578

5 SubmittersRCV000825901 RCV001816913 RCV005801902

NM_080680.3(COL11A2):c.106C>T (p.Arg36Trp)

SNV
Germline

Chr6:33189446

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3751753

rs_118097056

3 SubmittersRCV000825737 RCV002067418

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

SNV
Germline

Chr6:33188389

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA137053960

rs_201054429

4 SubmittersRCV000841577 RCV001157334 RCV001155657 RCV001155658 RCV003965626

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

SNV
Unknown

Chr6:33165948

Pathogenic

Otospondylomegaepiphyseal dysplasia, autosomal dominant

Criteria Provided
Single Submitter

CA363619497

rs_1583287711

1 SubmittersRCV000856785

NM_080680.3(COL11A2):c.4898G>A (p.Gly1633Asp)

SNV
Germline

Chr6:33164439

Conflicting classifications of pathogenicity

Condition: not provided
COL11A2-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3749959

rs_143920565

6 SubmittersRCV000991816 RCV004749580 RCV004030131

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

CA3751248

rs_139350991

5 SubmittersRCV000998579 RCV001151600 RCV001157017 RCV001157018 RCV003953413

NM_080680.3(COL11A2):c.3385G>A (p.Gly1129Arg)

SNV
Germline

Chr6:33170899

Pathogenic/Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 53
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA137066913

rs_550153707

2 SubmittersRCV001004793 RCV002549260

NM_080680.3(COL11A2):c.2708C>T (p.Pro903Leu)

SNV
Germline

Chr6:33173376

Conflicting classifications of pathogenicity

Retinal dystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3750758

rs_567206091

3 SubmittersRCV001074156 RCV001862541

NM_080680.3(COL11A2):c.4438G>A (p.Gly1480Arg)

SNV
Germline

Chr6:33165975

Conflicting classifications of pathogenicity

Condition: not provided
Otospondylomegaepiphyseal dysplasia, autosomal dominant

Criteria Provided
Conflicting Classifications

CA363619619

rs_1172866556

5 SubmittersRCV001091817 RCV006688821

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

SNV
Germline

Chr6:33164354

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3749940

rs_528251146

2 SubmittersRCV001155959 RCV001155960 RCV001155961 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

CA3750021

rs_749716412

3 SubmittersRCV001156078 RCV001156076 RCV001156077 RCV002032438

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

SNV
Germline

Chr6:33167072

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3750182

rs_780158388

2 SubmittersRCV001152395 RCV001152394 RCV001152396 RCV003558720

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

SNV
Germline

Chr6:33169475

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3750390

rs_751612997

4 SubmittersRCV001158059 RCV001158061 RCV001158060 RCV001375154 RCV001346855

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

CA449881014

rs_1405058032

2 SubmittersRCV001155038 RCV001155039 RCV001155040 RCV001882483

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

SNV
Germline

Chr6:33178684

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3751247

rs_751888761

4 SubmittersRCV001157014 RCV001157016 RCV001157015 RCV001759912 RCV004032823

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

SNV
Germline

Chr6:33186803

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3751607

rs_200272494

8 SubmittersRCV001155654 RCV001155655 RCV001155656 RCV001579994 RCV006702443

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

SNV
Germline

Chr6:33189330

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA449852260

rs_1772815896

2 SubmittersRCV001151893 RCV001151891 RCV001151892 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
not specified

Criteria Provided
Conflicting Classifications

CA3751742

rs_374898022

4 SubmittersRCV001153142 RCV001153143 RCV001153144 RCV002070864 RCV006702442

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

SNV
Germline

Chr6:33192322

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA137054944

rs_539232957

1 SubmittersRCV001157452 RCV001157453 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
not specified

Criteria Provided
Conflicting Classifications

CA137061766

rs_921581176

4 SubmittersRCV001156073 RCV001156074 RCV001156075 RCV001577226 RCV006702444

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

SNV
Germline

Chr6:33166831

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3750156

rs_564087840

1 SubmittersRCV001152393 RCV001152391 RCV001152392

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

CA1139659480

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

CA137068710

rs_891664323

2 SubmittersRCV001151248 RCV001151246 RCV001151247 RCV003558718

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

SNV
Germline

Chr6:33174222

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA566428946

rs_1457746213

2 SubmittersRCV001154317 RCV001154316 RCV001154318 RCV001882481

NM_080680.3(COL11A2):c.3959G>A (p.Arg1320Gln)

SNV
Germline

Chr6:33168520

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3750299

rs_372143434

2 SubmittersRCV001195603 RCV002560204

NM_080680.3(COL11A2):c.3343C>T (p.Pro1115Ser)

SNV
Germline

Chr6:33171137

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3750546

rs_372806452

5 SubmittersRCV001195604 RCV001547914 RCV006347494

NM_080680.3(COL11A2):c.3676G>A (p.Glu1226Lys)

SNV
Germline

Chr6:33169845

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 13
Intellectual disability
Condition: not provided

Criteria Provided
Conflicting Classifications

CA363628372

rs_1259912377

2 SubmittersRCV001253256 RCV001255333 RCV003727955

NM_080680.3(COL11A2):c.3859G>C (p.Asp1287His)

SNV
Germline

Chr6:33168753

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA363625253

rs_1219133025

3 SubmittersRCV001262405 RCV003223713

NM_080680.3(COL11A2):c.5027C>T (p.Pro1676Leu)

SNV
Germline

Chr6:33164310

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3749935

rs_769990941

2 SubmittersRCV001307969 RCV005802116

NM_080680.3(COL11A2):c.4558C>T (p.Arg1520Cys)

SNV
Germline

Chr6:33165741

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA137062099

rs_934714603

2 SubmittersRCV001302093

NM_080680.3(COL11A2):c.692G>A (p.Gly231Asp)

SNV
Germline

Chr6:33186733

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3751594

rs_769697511

3 SubmittersRCV001321316

NM_080680.3(COL11A2):c.689G>A (p.Gly230Glu)

SNV
Germline

Chr6:33186736

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3751595

rs_143571317

2 SubmittersRCV001317429

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

SNV
Germline

Chr6:33169484

Conflicting classifications of pathogenicity

Otospondylomegaepiphyseal dysplasia, autosomal recessive
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3750394

rs_780613380

4 SubmittersRCV001332797 RCV001751648 RCV005236810

NM_080680.3(COL11A2):c.1510C>T (p.Pro504Ser)

SNV
Germline

Chr6:33179278

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 13
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3751323

rs_765609390

3 SubmittersRCV001336876 RCV003770867

NM_080680.3(COL11A2):c.2546G>A (p.Arg849Gln)

SNV
Germline

Chr6:33173910

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3750849

rs_761524468

2 SubmittersRCV001370392

NM_080680.3(COL11A2):c.914C>T (p.Ser305Leu)

SNV
Germline

Chr6:33185017

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA137053201

rs_1049821607

2 SubmittersRCV001371924

NM_080680.3(COL11A2):c.4481C>T (p.Pro1494Leu)

SNV
Germline

Chr6:33165932

Conflicting classifications of pathogenicity

Hearing impairment
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3750076

rs_758796613

3 SubmittersRCV001375206 RCV001762659

NM_080680.3(COL11A2):c.4338+5G>A

SNV
Germline

Chr6:33166715

Conflicting classifications of pathogenicity

Hearing impairment
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2499218216

rs_2150522213

3 SubmittersRCV001375326 RCV003574879

NM_080680.3(COL11A2):c.4202G>A (p.Arg1401Gln)

SNV
Germline

Chr6:33167098

Conflicting classifications of pathogenicity

Hearing impairment
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3750184

rs_184399988

3 SubmittersRCV001375158 RCV001871967 RCV002550206

NM_080680.3(COL11A2):c.3101G>A (p.Arg1034His)

SNV
Germline

Chr6:33171762

Conflicting classifications of pathogenicity

Hearing impairment
Condition: not provided

Criteria Provided
Conflicting Classifications

CA137067504

rs_957902805

3 SubmittersRCV001375385 RCV001664857

NM_080680.3(COL11A2):c.2812C>T (p.Pro938Ser)

SNV
Germline

Chr6:33172616

Conflicting classifications of pathogenicity

not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3750720

rs_764935691

3 SubmittersRCV001449747 RCV003558830

NM_080680.3(COL11A2):c.2220G>T (p.Glu740Asp)

SNV
Germline

Chr6:33176064

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3750986

rs_202032297

4 SubmittersRCV001462585 RCV005038231 RCV005237837

NM_080680.3(COL11A2):c.3764G>A (p.Gly1255Asp)

SNV
Germline

Chr6:33169417

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA363627626

rs_2150534777

2 SubmittersRCV001547307

NM_080680.3(COL11A2):c.2169+1G>T

SNV
Germline

Chr6:33176432

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA363649682

rs_2150568816

1 SubmittersRCV001547054

NM_080680.3(COL11A2):c.1971+6C>T

SNV
Germline

Chr6:33177406

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3751113

rs_746341530

2 SubmittersRCV001548259

NM_080680.3(COL11A2):c.143G>A (p.Arg48Gln)

SNV
Germline

Chr6:33189409

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3751746

rs_760502556

2 SubmittersRCV001544687

NM_080680.3(COL11A2):c.3830C>A (p.Pro1277His)

SNV
Germline

Chr6:33168977

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA3750357

rs_777156156

4 SubmittersRCV001549304 RCV004980593 RCV006702633

NM_080680.3(COL11A2):c.3554G>C (p.Arg1185Pro)

SNV
Germline

Chr6:33170354

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA137064737

rs_771004504

3 SubmittersRCV001550847 RCV004039295

NM_080680.3(COL11A2):c.4126C>G (p.Gln1376Glu)

SNV
Germline

Chr6:33167314

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3750212

rs_150784358

3 SubmittersRCV001560067 RCV003161097

NM_080680.3(COL11A2):c.1063C>T (p.Arg355Cys)

SNV
Germline

Chr6:33184201

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3751487

rs_774410925

2 SubmittersRCV001562628

NM_080680.3(COL11A2):c.4538G>A (p.Arg1513Gln)

SNV
Germline

Chr6:33165761

Conflicting classifications of pathogenicity

Condition: not provided
COL11A2-related disorder

Criteria Provided
Conflicting Classifications

CA3750056

rs_371674362

4 SubmittersRCV001565415 RCV005225438

NM_080680.3(COL11A2):c.973G>A (p.Asp325Asn)

SNV
Germline

Chr6:33184291

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3751497

rs_369790491

5 SubmittersRCV001565040 RCV005038264

NM_080680.3(COL11A2):c.291A>G (p.Gln97=)

SNV
Germline

Chr6:33189130

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3751699

rs_538869102

2 SubmittersRCV001565289

NM_080680.3(COL11A2):c.4344C>G (p.Ile1448Met)

SNV
Germline

Chr6:33166561

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3750123

rs_554269032

3 SubmittersRCV001570647 RCV005320825

NM_080680.3(COL11A2):c.3609T>G (p.Val1203=)

SNV
Germline

Chr6:33170074

Conflicting classifications of pathogenicity

Condition: not provided
COL11A2-related disorder

Criteria Provided
Conflicting Classifications

CA3750441

rs_768558233

3 SubmittersRCV001570656 RCV004749715

NM_080680.3(COL11A2):c.1097C>T (p.Ala366Val)

SNV
Germline

Chr6:33184167

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3751481

rs_534335166

3 SubmittersRCV001572540

NM_080680.3(COL11A2):c.3326C>A (p.Pro1109His)

SNV
Germline

Chr6:33171154

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3750553

rs_751465004

2 SubmittersRCV001574421

NM_080680.3(COL11A2):c.2356C>T (p.Pro786Ser)

SNV
Germline

Chr6:33175594

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA137070746

rs_997884133

2 SubmittersRCV001584773

NM_080680.3(COL11A2):c.2591C>A (p.Ser864Tyr)

SNV
Germline

Chr6:33173738

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3750818

rs_373490721

3 SubmittersRCV001589565 RCV004980606

NM_080680.3(COL11A2):c.1999G>A (p.Gly667Ser)

SNV
Germline

Chr6:33177198

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA363653678

rs_1322629595

4 SubmittersRCV001591459 RCV004587189 RCV005038269

NM_080680.3(COL11A2):c.4027G>A (p.Ala1343Thr)

SNV
Germline

Chr6:33167521

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3750246

rs_759017753

2 SubmittersRCV001582100

NM_080680.3(COL11A2):c.2519G>A (p.Arg840Gln)

SNV
Germline

Chr6:33174021

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3750864

rs_538425732

3 SubmittersRCV001593423 RCV004611854

NM_080680.3(COL11A2):c.142C>T (p.Arg48Trp)

SNV
Germline

Chr6:33189410

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3751747

rs_151140273

2 SubmittersRCV001586782

NM_080680.3(COL11A2):c.3138G>C (p.Glu1046Asp)

SNV
Germline

Chr6:33171725

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3750633

rs_773329088

3 SubmittersRCV001587123 RCV003399397

NM_080680.3(COL11A2):c.1636C>G (p.Arg546Gly)

SNV
Germline

Chr6:33178949

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3751277

rs_149697159

3 SubmittersRCV001582335 RCV005802206

NM_080680.3(COL11A2):c.434C>G (p.Ala145Gly)

SNV
Germline

Chr6:33188987

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3751674

rs_138305560

3 SubmittersRCV001587854 RCV006702652

NM_080680.3(COL11A2):c.3118C>A (p.Pro1040Thr)

SNV
Germline

Chr6:33171745

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3750637

rs_759919085

3 SubmittersRCV001592322 RCV004039520

NM_080680.3(COL11A2):c.3343C>A (p.Pro1115Thr)

SNV
Germline

Chr6:33171137

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3750545

rs_372806452

4 SubmittersRCV001592344 RCV002579481

NM_080680.3(COL11A2):c.4544C>T (p.Ser1515Leu)

SNV
Germline

Chr6:33165755

Conflicting classifications of pathogenicity

Condition: not provided
COL11A2-related disorder

Criteria Provided
Conflicting Classifications

CA3750052

rs_764154647

3 SubmittersRCV001596058 RCV003416404

NM_080680.3(COL11A2):c.3958C>T (p.Arg1320Ter)

SNV
Germline

Chr6:33168521

Pathogenic/Likely pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA363624516

rs_1206475365

2 SubmittersRCV001597555

NM_080680.3(COL11A2):c.4057G>A (p.Val1353Met)

SNV
Germline

Chr6:33167491

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3750237

rs_752706766

3 SubmittersRCV001665307 RCV005540475

NM_080680.3(COL11A2):c.4933G>A (p.Val1645Ile)

SNV
Germline

Chr6:33164404

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3749949

rs_556677734

2 SubmittersRCV001658762

NM_080680.3(COL11A2):c.1002G>C (p.Glu334Asp)

SNV
Germline

Chr6:33184262

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA3751494

rs_34415548

5 SubmittersRCV001658774 RCV004980620 RCV006457447

NM_080680.3(COL11A2):c.2326C>T (p.Arg776Cys)

SNV
Germline

Chr6:33175624

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3750955

rs_776701792

2 SubmittersRCV001732563

NM_080680.3(COL11A2):c.5087C>T (p.Thr1696Met)

SNV
Germline

Chr6:33163802

Conflicting classifications of pathogenicity

Condition: not provided
COL11A2-related disorder

Criteria Provided
Conflicting Classifications

CA3749907

rs_570708095

4 SubmittersRCV001732670 RCV003913353

NM_080680.3(COL11A2):c.940-4G>T

SNV
Germline

Chr6:33184328

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA566409892

rs_1397179790

2 SubmittersRCV001762750

NM_080680.3(COL11A2):c.3675C>T (p.Gly1225=)

SNV
Germline

Chr6:33169846

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3750416

rs_771644818

2 SubmittersRCV001756450

NM_080680.3(COL11A2):c.2327G>A (p.Arg776His)

SNV
Germline

Chr6:33175623

Conflicting classifications of pathogenicity

Condition: not provided
COL11A2-related disorder

Criteria Provided
Conflicting Classifications

CA3750953

rs_748159740

3 SubmittersRCV001754496 RCV003968529

NM_080680.3(COL11A2):c.1403C>T (p.Ala468Val)

SNV
Germline

Chr6:33179762

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA363606011

rs_1475898236

2 SubmittersRCV001770975

NM_080680.3(COL11A2):c.2346C>A (p.Asp782Glu)

SNV
Germline

Chr6:33175604

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3750948

rs_769588312

2 SubmittersRCV001772416

NM_080680.3(COL11A2):c.3830C>G (p.Pro1277Arg)

SNV
Germline

Chr6:33168977

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA137064035

rs_777156156

2 SubmittersRCV001767335

NM_080680.3(COL11A2):c.3554G>A (p.Arg1185Gln)

SNV
Germline

Chr6:33170354

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3750459

rs_771004504

2 SubmittersRCV001770907

NM_080680.3(COL11A2):c.2669C>T (p.Pro890Leu)

SNV
Germline

Chr6:33173515

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3750781

rs_764307090

3 SubmittersRCV001767069 RCV003264079

NM_080680.3(COL11A2):c.3446A>G (p.Asn1149Ser)

SNV
Germline

Chr6:33170838

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
COL11A2-related disorder

Criteria Provided
Conflicting Classifications

CA3750512

rs_754703121

4 SubmittersRCV001772640 RCV003163844 RCV004749730

NM_080680.3(COL11A2):c.4541G>A (p.Arg1514His)

SNV
Germline

Chr6:33165758

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3750054

rs_756194499

3 SubmittersRCV001770620 RCV005802215

NM_080680.3(COL11A2):c.4970G>T (p.Gly1657Val)

SNV
Germline

Chr6:33164367

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA363616183

rs_1300439797

2 SubmittersRCV001752712

NM_080680.3(COL11A2):c.4307C>T (p.Pro1436Leu)

SNV
Germline

Chr6:33166751

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA363620492

rs_1338682682

2 SubmittersRCV001765608

NM_080680.3(COL11A2):c.2821G>A (p.Glu941Lys)

SNV
Germline

Chr6:33172607

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3750715

rs_753595762

2 SubmittersRCV001758433

NM_080680.3(COL11A2):c.2510G>A (p.Arg837Gln)

SNV
Germline

Chr6:33174030

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3750866

rs_773908748

2 SubmittersRCV001758577

NM_080680.3(COL11A2):c.4337T>C (p.Met1446Thr)

SNV
Germline

Chr6:33166721

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3750142

rs_781001180

3 SubmittersRCV001774394 RCV002540473

NM_080680.3(COL11A2):c.3992G>A (p.Arg1331Gln)

SNV
Germline

Chr6:33167821

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3750272

rs_146082418

2 SubmittersRCV001769076

NM_080680.3(COL11A2):c.2843C>T (p.Pro948Leu)

SNV
Germline

Chr6:33172585

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3750712

rs_779187034

3 SubmittersRCV001763807 RCV004040264

NM_080680.3(COL11A2):c.4010C>T (p.Ala1337Val)

SNV
Germline

Chr6:33167803

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3750268

rs_756855492

2 SubmittersRCV001771168

NM_080680.3(COL11A2):c.3335C>A (p.Pro1112His)

SNV
Germline

Chr6:33171145

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3750549

rs_759086485

2 SubmittersRCV001766028

NM_080680.3(COL11A2):c.328C>T (p.Arg110Ter)

SNV
Germline

Chr6:33189093

Pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA137054162

rs_903118000

2 SubmittersRCV001780523

NM_080680.3(COL11A2):c.2376+1G>A

SNV
Germline

Chr6:33175573

Conflicting classifications of pathogenicity

Condition: not provided
Monogenic hearing loss

Criteria Provided
Conflicting Classifications

CA363646144

rs_2150565478

2 SubmittersRCV001780803 RCV006272151

NM_080680.3(COL11A2):c.3392G>A (p.Arg1131Gln)

SNV
Germline

Chr6:33170892

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3750516

rs_529015303

3 SubmittersRCV001794845

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

SNV
Germline

Chr6:33171783

Likely pathogenic

Otospondylomegaepiphyseal dysplasia, autosomal recessive

Criteria Provided
Multiple Submitters
No Conflicts

CA363636527

rs_2150548120

2 SubmittersRCV001809326

NM_080680.3(COL11A2):c.2939C>T (p.Pro980Leu)

SNV
Germline

Chr6:33172338

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA363636954

rs_1408490036

2 SubmittersRCV001930231

NM_080680.3(COL11A2):c.3985G>A (p.Glu1329Lys)

SNV
Germline

Chr6:33167828

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3750274

rs_774304709

2 SubmittersRCV001919039

NM_080680.3(COL11A2):c.760A>G (p.Arg254Gly)

SNV
Germline

Chr6:33186665

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3751585

rs_755419571

2 SubmittersRCV001878334

NM_080680.3(COL11A2):c.2179G>A (p.Gly727Arg)

SNV
Germline

Chr6:33176294

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3751011

rs_768569721

5 SubmittersRCV001912729 RCV004690165 RCV003375417 RCV005038463

NM_080680.3(COL11A2):c.3151-2A>G

SNV
Germline

Chr6:33171576

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA363636293

rs_2150546942

1 SubmittersRCV001963772

NM_080680.3(COL11A2):c.4256T>C (p.Ile1419Thr)

SNV
Germline

Chr6:33166802

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3750152

rs_759989401

2 SubmittersRCV001991572 RCV004612087

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

SNV
Germline

Chr6:33178482

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3751226

rs_779116250

3 SubmittersRCV002032090 RCV002486792

NM_080680.3(COL11A2):c.4519C>T (p.Gln1507Ter)

SNV
Germline

Chr6:33165780

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA363619202

rs_377656039

1 SubmittersRCV001999787

NM_080680.3(COL11A2):c.3329C>G (p.Pro1110Arg)

SNV
Germline

Chr6:33171151

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3750550

rs_377242569

3 SubmittersRCV001991216 RCV005804435

NM_080680.3(COL11A2):c.1364G>A (p.Arg455Gln)

SNV
Germline

Chr6:33179801

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA363606092

rs_781138300

2 SubmittersRCV001884464

NM_080680.3(COL11A2):c.3064G>A (p.Ala1022Thr)

SNV
Germline

Chr6:33171799

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA363636559

rs_1398107304

2 SubmittersRCV001996308

NM_080680.3(COL11A2):c.2554C>T (p.Arg852Ter)

SNV
Germline

Chr6:33173902

Pathogenic/Likely pathogenic

Condition: not provided
COL11A2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA363643047

rs_1387164225

3 SubmittersRCV001946767 RCV003408012

NM_080680.3(COL11A2):c.233-1G>T

SNV
Germline

Chr6:33189189

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA363612932

rs_2150623900

1 SubmittersRCV001992146

NM_080680.3(COL11A2):c.4979G>A (p.Arg1660His)

SNV
Germline

Chr6:33164358

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3749941

rs_202191908

2 SubmittersRCV001935724

NM_080680.3(COL11A2):c.4889C>T (p.Ser1630Phe)

SNV
Germline

Chr6:33164448

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3749961

rs_773575924

2 SubmittersRCV001865126 RCV005320912

NM_080680.3(COL11A2):c.4249G>A (p.Gly1417Arg)

SNV
Germline

Chr6:33166809

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA363621413

rs_2150522747

1 SubmittersRCV002050737

NM_080680.3(COL11A2):c.1399G>A (p.Val467Met)

SNV
Germline

Chr6:33179766

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA137051911

rs_755731113

3 SubmittersRCV001879681 RCV005040460

NM_080680.3(COL11A2):c.3366+1G>A

SNV
Germline

Chr6:33171113

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA363634168

rs_2150544713

1 SubmittersRCV001977174

NM_080680.3(COL11A2):c.2425C>G (p.Pro809Ala)

SNV
Germline

Chr6:33174532

Conflicting classifications of pathogenicity

Condition: not provided
COL11A2-related disorder

Criteria Provided
Conflicting Classifications

CA363644121

rs_1483323590

2 SubmittersRCV001929981 RCV003401797

NM_080680.3(COL11A2):c.3031C>T (p.Pro1011Ser)

SNV
Germline

Chr6:33172061

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA137067672

rs_997533180

2 SubmittersRCV001962243

NM_080680.3(COL11A2):c.2518C>T (p.Arg840Trp)

SNV
Germline

Chr6:33174022

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3750865

rs_769151199

2 SubmittersRCV001959767

NM_080680.3(COL11A2):c.1636C>T (p.Arg546Ter)

SNV
Germline

Chr6:33178949

Pathogenic

Condition: not provided
COL11A2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA363659489

rs_149697159

3 SubmittersRCV001958891 RCV004542204

NM_080680.3(COL11A2):c.1562C>T (p.Pro521Leu)

SNV
Germline

Chr6:33179122

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3751302

rs_760858147

2 SubmittersRCV001914708

NM_080680.3(COL11A2):c.2651C>T (p.Pro884Leu)

SNV
Germline

Chr6:33173533

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3750784

rs_750723746

3 SubmittersRCV001905494 RCV004611915

NM_080680.3(COL11A2):c.2849C>T (p.Pro950Leu)

SNV
Germline

Chr6:33172579

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3750710

rs_141465781

2 SubmittersRCV001921485 RCV003355658

NM_080680.3(COL11A2):c.4537C>T (p.Arg1513Trp)

SNV
Germline

Chr6:33165762

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3750057

rs_199615717

2 SubmittersRCV001960117

NM_080680.3(COL11A2):c.272G>A (p.Arg91Gln)

SNV
Germline

Chr6:33189149

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA3751704

rs_763766268

1 SubmittersRCV001864448

NM_080680.3(COL11A2):c.4208A>T (p.Asp1403Val)

SNV
Germline

Chr6:33167092

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA363621901

rs_1353761128

2 SubmittersRCV002000428

NM_080680.3(COL11A2):c.876+1G>A

SNV
Germline

Chr6:33185700

Likely pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA363609542

rs_144041807

2 SubmittersRCV002022196

NM_080680.3(COL11A2):c.5203A>T (p.Met1735Leu)

SNV
Germline

Chr6:33163686

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA137061094

rs_1048273373

2 SubmittersRCV001879284 RCV006352517

NM_080680.3(COL11A2):c.3496G>T (p.Glu1166Ter)

SNV
Germline

Chr6:33170589

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA363630530

rs_1448700521

1 SubmittersRCV001896922

NM_080680.3(COL11A2):c.4922G>A (p.Arg1641Gln)

SNV
Germline

Chr6:33164415

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3749955

rs_776247728

2 SubmittersRCV001938922 RCV006458786

NM_080680.3(COL11A2):c.4001G>A (p.Gly1334Glu)

SNV
Germline

Chr6:33167812

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA137063137

rs_200078912

3 SubmittersRCV002033294 RCV006352445

NM_080680.3(COL11A2):c.1119+1G>A

SNV
Germline

Chr6:33184144

Likely pathogenic

Condition: not provided
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA3751475

rs_367706373

2 SubmittersRCV002013957 RCV002252751

NM_080680.3(COL11A2):c.696G>C (p.Gln232His)

SNV
Germline

Chr6:33186729

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA363610327

rs_1213135480

3 SubmittersRCV001935876 RCV005804364

NM_080680.3(COL11A2):c.4873G>A (p.Val1625Met)

SNV
Germline

Chr6:33164464

Conflicting classifications of pathogenicity

Condition: not provided
Thyroid cancer, nonmedullary, 1

Criteria Provided
Conflicting Classifications

CA3749963

rs_754205211

3 SubmittersRCV001960204 RCV005924250

NM_080680.3(COL11A2):c.4516A>G (p.Ile1506Val)

SNV
Germline

Chr6:33165783

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3750059

rs_772312309

3 SubmittersRCV001882195 RCV002554176

NM_080680.3(COL11A2):c.1135C>T (p.Arg379Ter)

SNV
Germline

Chr6:33181155

Pathogenic/Likely pathogenic

Condition: not provided
Otospondylomegaepiphyseal dysplasia, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

CA363606814

rs_1417182811

3 SubmittersRCV001979876 RCV005860278

NM_080680.3(COL11A2):c.3059G>A (p.Arg1020Gln)

SNV
Germline

Chr6:33171804

Conflicting classifications of pathogenicity

Condition: not provided
Autosomal dominant nonsyndromic hearing loss 13

Criteria Provided
Conflicting Classifications

CA3750646

rs_779998311

2 SubmittersRCV002010982 RCV002282679

NM_080680.3(COL11A2):c.4999C>T (p.Arg1667Cys)

SNV
Germline

Chr6:33164338

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3749939

rs_759322344

2 SubmittersRCV001957663

NM_080680.3(COL11A2):c.2533C>T (p.Pro845Ser)

SNV
Germline

Chr6:33173923

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3750851

rs_200993927

3 SubmittersRCV001957745 RCV002562140

NM_080680.3(COL11A2):c.3622C>G (p.Pro1208Ala)

SNV
Germline

Chr6:33170061

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3750438

rs_374515005

2 SubmittersRCV002041239

NM_080680.3(COL11A2):c.444-2A>T

SNV
Germline

Chr6:33188526

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA363612006

rs_2150621077

1 SubmittersRCV002027132

NM_080680.3(COL11A2):c.3529-5C>T

SNV
Germline

Chr6:33170384

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3750466

rs_201941509

2 SubmittersRCV002152639 RCV005058052

NM_080680.3(COL11A2):c.2417G>A (p.Arg806His)

SNV
Germline

Chr6:33174540

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3750917

rs_200552277

5 SubmittersRCV002115508 RCV005406342 RCV005804509

NM_080680.3(COL11A2):c.2492C>T (p.Ser831Leu)

SNV
Germline

Chr6:33174048

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3750872

rs_121912949

2 SubmittersRCV002122169 RCV004770406

NM_080680.3(COL11A2):c.1378G>T (p.Gly460Trp)

SNV
Germline

Chr6:33179787

Conflicting classifications of pathogenicity

Condition: not provided
Connective tissue disorder
Autosomal dominant nonsyndromic hearing loss 13

Criteria Provided
Conflicting Classifications

CA3751370

rs_200635355

5 SubmittersRCV002105932 RCV002277021 RCV004785495

NM_080680.3(COL11A2):c.3961-7C>A

SNV
Germline

Chr6:33167859

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA2573140222

rs_1361986900

2 SubmittersRCV002244516

NM_080680.3(COL11A2):c.4294G>T (p.Gly1432Ter)

SNV
Germline

Chr6:33166764

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 53

Criteria Provided
Single Submitter

CA363620542

rs_1404134749

1 SubmittersRCV002250856

NM_080680.3(COL11A2):c.3020C>T (p.Pro1007Leu)

SNV
Germline

Chr6:33172072

Conflicting classifications of pathogenicity

Condition: not provided
COL11A2-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3750669

rs_771092817

4 SubmittersRCV002251674 RCV003418423 RCV006357388

NM_080680.3(COL11A2):c.4399G>T (p.Ala1467Ser)

SNV
Germline

Chr6:33166200

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3750099

rs_779385536

3 SubmittersRCV002267331 RCV006357398

NM_080680.3(COL11A2):c.3545C>A (p.Pro1182Gln)

SNV
Germline

Chr6:33170363

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA363629760

rs_1411737210

2 SubmittersRCV002269402

NM_080680.3(COL11A2):c.4123-1G>T

SNV
Germline

Chr6:33167318

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA363622817

rs_2150524851

1 SubmittersRCV002276147

NM_080680.3(COL11A2):c.3540C>T (p.Gly1180=)

SNV
Germline

Chr6:33170368

Conflicting classifications of pathogenicity

Connective tissue disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3750462

rs_759890035

2 SubmittersRCV002278784 RCV003660920

NM_080680.3(COL11A2):c.3133G>T (p.Gly1045Ter)

SNV
Germline

Chr6:33171730

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA363636401

rs_766503812

1 SubmittersRCV002288010

NM_080680.3(COL11A2):c.4482+5G>C

SNV
Germline

Chr6:33165926

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA2580074363

rs_2534474285

1 SubmittersRCV002293847

NM_080680.3(COL11A2):c.508C>T (p.Arg170Ter)

SNV
Germline

Chr6:33188460

Pathogenic/Likely pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA363611547

rs_1772690053

2 SubmittersRCV002300864

NM_080680.3(COL11A2):c.4840A>C (p.Thr1614Pro)

SNV
Germline

Chr6:33164875

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3749990

rs_750038327

3 SubmittersRCV003058811 RCV005804683

NM_080680.3(COL11A2):c.1442C>T (p.Ala481Val)

SNV
Germline

Chr6:33179723

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3751359

rs_749620886

4 SubmittersRCV003060666 RCV003994493

NM_080680.3(COL11A2):c.2647G>A (p.Gly883Ser)

SNV
Germline

Chr6:33173537

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA3750787

rs_144782720

4 SubmittersRCV003064792 RCV003250724 RCV006687543

NM_080680.3(COL11A2):c.2638G>T (p.Gly880Ter)

SNV
Germline

Chr6:33173546

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA363642017

rs_2534941119

1 SubmittersRCV003069744

NM_080680.3(COL11A2):c.1925A>G (p.Gln642Arg)

SNV
Germline

Chr6:33177458

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3751117

rs_567782238

2 SubmittersRCV003085395 RCV004614337

NM_080680.3(COL11A2):c.1060T>A (p.Tyr354Asn)

SNV
Germline

Chr6:33184204

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3751489

rs_377259695

4 SubmittersRCV003079965 RCV003994498 RCV004978588

NM_080680.3(COL11A2):c.4201C>T (p.Arg1401Trp)

SNV
Germline

Chr6:33167099

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3750185

rs_751584939

2 SubmittersRCV003095672 RCV004700950

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

CA363615646

rs_1057341966

2 SubmittersRCV002603778 RCV003340636

NM_080680.3(COL11A2):c.1519C>G (p.Pro507Ala)

SNV
Germline

Chr6:33179269

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3751322

rs_759767381

2 SubmittersRCV002636961 RCV004978689

NM_080680.3(COL11A2):c.1457G>A (p.Arg486His)

SNV
Germline

Chr6:33179477

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA3751340

rs_148825215

3 SubmittersRCV002637717 RCV004783020

NM_080680.3(COL11A2):c.1826G>A (p.Arg609Gln)

SNV
Germline

Chr6:33178178

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3751176

rs_760066546

2 SubmittersRCV002620601 RCV005323370

NM_080680.3(COL11A2):c.833C>T (p.Pro278Leu)

SNV
Germline

Chr6:33185744

Conflicting classifications of pathogenicity

Condition: not provided
COL11A2-related disorder

Criteria Provided
Conflicting Classifications

CA3751549

rs_770340871

3 SubmittersRCV002638122 RCV004750305

NM_080680.3(COL11A2):c.2678C>T (p.Pro893Leu)

SNV
Germline

Chr6:33173506

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA363641493

rs_1415750932

2 SubmittersRCV002621649 RCV004973519

NM_080680.3(COL11A2):c.5044G>A (p.Val1682Ile)

SNV
Germline

Chr6:33164293

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3749933

rs_778248464

2 SubmittersRCV002643455

NM_080680.3(COL11A2):c.5168G>A (p.Arg1723Lys)

SNV
Germline

Chr6:33163721

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA137061108

rs_912572166

2 SubmittersRCV002650132

NM_080680.3(COL11A2):c.3734C>T (p.Pro1245Leu)

SNV
Germline

Chr6:33169447

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3750385

rs_570577392

2 SubmittersRCV002667516 RCV004612226

NM_080680.3(COL11A2):c.874C>T (p.Gln292Ter)

SNV
Germline

Chr6:33185703

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA3751542

rs_766136290

1 SubmittersRCV002694943

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

CA3751251

rs_770271840

2 SubmittersRCV002746403 RCV004007574

NM_080680.3(COL11A2):c.2650C>T (p.Pro884Ser)

SNV
Germline

Chr6:33173534

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3750785

rs_756752990

2 SubmittersRCV002913239

NM_080680.3(COL11A2):c.1637G>T (p.Arg546Leu)

SNV
Germline

Chr6:33178948

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3751276

rs_199866657

2 SubmittersRCV002909624

NM_080680.3(COL11A2):c.4654G>A (p.Glu1552Lys)

SNV
Germline

Chr6:33165645

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3750028

rs_368488233

2 SubmittersRCV002959096 RCV004068240

NM_080680.3(COL11A2):c.1606C>T (p.Arg536Ter)

SNV
Germline

Chr6:33179078

Pathogenic/Likely pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA363659914

rs_745874653

3 SubmittersRCV002944235

NM_080680.3(COL11A2):c.653A>G (p.Tyr218Cys)

SNV
Germline

Chr6:33186772

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3751603

rs_571279786

3 SubmittersRCV002975669 RCV004614284

NM_080680.3(COL11A2):c.15C>T (p.Ser5=)

SNV
Germline

Chr6:33192226

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3751772

rs_765046193

2 SubmittersRCV002942687

NM_080680.3(COL11A2):c.3698G>A (p.Arg1233His)

SNV
Germline

Chr6:33169483

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3750392

rs_746286026

3 SubmittersRCV002948847 RCV005535470

NM_080680.3(COL11A2):c.1796C>T (p.Pro599Leu)

SNV
Germline

Chr6:33178330

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3751203

rs_780055075

2 SubmittersRCV002982476 RCV004978422

NM_080680.3(COL11A2):c.4387C>T (p.Leu1463Phe)

SNV
Germline

Chr6:33166518

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
COL11A2-related disorder

Criteria Provided
Conflicting Classifications

CA3750115

rs_780582885

3 SubmittersRCV002979796 RCV003269377 RCV004750237

NM_080680.3(COL11A2):c.4864-1G>C

SNV
Germline

Chr6:33164474

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA363616702

rs_2534387868

1 SubmittersRCV003012226

NM_080680.3(COL11A2):c.1119+1G>T

SNV
Germline

Chr6:33184144

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA363608132

rs_367706373

1 SubmittersRCV003030521

NM_080680.3(COL11A2):c.3827G>C (p.Gly1276Ala)

SNV
Germline

Chr6:33168980

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA363627147

rs_2534685364

3 SubmittersRCV003034866 RCV004700897 RCV005045171

NM_080680.3(COL11A2):c.25C>T (p.Arg9Cys)

SNV
Germline

Chr6:33192216

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA363615039

rs_1282223546

2 SubmittersRCV003055830

NM_080680.3(COL11A2):c.2215G>A (p.Gly739Ser)

SNV
Germline

Chr6:33176069

Conflicting classifications of pathogenicity

Condition: not provided
Fibrochondrogenesis 2
Autosomal recessive nonsyndromic hearing loss 53
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Autosomal dominant nonsyndromic hearing loss 13
COL11A2-related disorder

Criteria Provided
Conflicting Classifications

CA137071091

rs_763575313

3 SubmittersRCV003035941 RCV005034601 RCV004750251

NM_080680.3(COL11A2):c.2843C>A (p.Pro948Gln)

SNV
Germline

Chr6:33172585

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3750713

rs_779187034

2 SubmittersRCV003127051

NM_080680.3(COL11A2):c.3749C>T (p.Pro1250Leu)

SNV
Germline

Chr6:33169432

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA363627719

rs_1293342751

2 SubmittersRCV003129501

NM_080680.3(COL11A2):c.4166C>T (p.Pro1389Leu)

SNV
Germline

Chr6:33167274

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3750205

rs_781402333

3 SubmittersRCV003145101 RCV006663899

NM_080680.3(COL11A2):c.3852+1G>T

SNV
Unknown

Chr6:33168954

Likely pathogenic

Autosomal dominant nonsyndromic hearing loss 13

Criteria Provided
Single Submitter

CA363627056

rs_2150532832

1 SubmittersRCV003155546

NM_080680.3(COL11A2):c.4395A>G (p.Gly1465=)

SNV
Germline

Chr6:33166204

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3750100

rs_748811826

2 SubmittersRCV003219099

NM_080680.3(COL11A2):c.1179+1G>A

SNV
Germline

Chr6:33181110

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3751446

rs_760663026

2 SubmittersRCV003223786

NM_080680.3(COL11A2):c.1408C>T (p.Gln470Ter)

SNV
Unknown

Chr6:33179757

Likely pathogenic

Otospondylomegaepiphyseal dysplasia, autosomal recessive

Criteria Provided
Single Submitter

CA363606002

rs_2535272417

1 SubmittersRCV003314309

NM_080680.3(COL11A2):c.2033C>A (p.Pro678Gln)

SNV
Germline

Chr6:33177029

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3751071

rs_756455152

3 SubmittersRCV003332531 RCV005323417

NM_080680.3(COL11A2):c.3422G>C (p.Gly1141Ala)

SNV
Germline

Chr6:33170862

Likely pathogenic

COL11A2-related disorder

Criteria Provided
Single Submitter

CA363631476

rs_2534796103

1 SubmittersRCV003404678

NM_080680.3(COL11A2):c.3743C>T (p.Pro1248Leu)

SNV
Germline

Chr6:33169438

Conflicting classifications of pathogenicity

COL11A2-related disorder
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA137064282

rs_959259513

3 SubmittersRCV003402966 RCV003553929 RCV004701057

NM_080680.3(COL11A2):c.1490G>A (p.Arg497His)

SNV
Germline

Chr6:33179444

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3751338

rs_776761577

2 SubmittersRCV003543868

NM_080680.3(COL11A2):c.2268+1G>C

SNV
Germline

Chr6:33176015

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA363648091

rs_797044915

1 SubmittersRCV003547224

NM_080680.3(COL11A2):c.4758C>G (p.Tyr1586Ter)

SNV
Germline

Chr6:33164957

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA363617887

rs_1181790213

1 SubmittersRCV003542894

NM_080680.3(COL11A2):c.5145C>T (p.Phe1715=)

SNV
Germline

Chr6:33163744

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA449866419

rs_1459036159

2 SubmittersRCV003554398

NM_080680.3(COL11A2):c.181C>T (p.Arg61Ter)

SNV
Germline

Chr6:33189371

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA363613181

rs_1455937570

1 SubmittersRCV003562567

NM_080680.3(COL11A2):c.2194A>T (p.Lys732Ter)

SNV
Germline

Chr6:33176279

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA363649205

rs_141023125

1 SubmittersRCV003563921

NM_080680.3(COL11A2):c.4760G>A (p.Trp1587Ter)

SNV
Germline

Chr6:33164955

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA363617869

rs_1471622578

1 SubmittersRCV003569357

NM_080680.3(COL11A2):c.233-2A>G

SNV
Germline

Chr6:33189190

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA363612942

rs_2535554557

1 SubmittersRCV003565919

NM_080680.3(COL11A2):c.4450G>T (p.Glu1484Ter)

SNV
Germline

Chr6:33165963

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA363619573

rs_1303980611

1 SubmittersRCV003564410

NM_080680.3(COL11A2):c.4428+1G>A

SNV
Germline

Chr6:33166170

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA363619681

rs_2534488667

1 SubmittersRCV003573979

NM_080680.3(COL11A2):c.2899-2A>G

SNV
Germline

Chr6:33172380

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA363637266

rs_2534884314

1 SubmittersRCV003574565

NM_080680.3(COL11A2):c.1517G>A (p.Ser506Asn)

SNV
Germline

Chr6:33179271

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA137051786

rs_951395468

2 SubmittersRCV003576404

NM_080680.3(COL11A2):c.1872+2T>C

SNV
Germline

Chr6:33178130

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA363656085

rs_2535184869

1 SubmittersRCV003576946

NM_080680.3(COL11A2):c.2898+1G>A

SNV
Germline

Chr6:33172529

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA363637388

rs_2534890516

1 SubmittersRCV003574080

NM_080680.3(COL11A2):c.3181C>T (p.Arg1061Ter)

SNV
Germline

Chr6:33171544

Pathogenic

Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA3750610

rs_776576899

2 SubmittersRCV003664075

NM_080680.3(COL11A2):c.2268+1G>A

SNV
Germline

Chr6:33176015

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA363648082

rs_797044915

1 SubmittersRCV003660154

NM_080680.3(COL11A2):c.2542C>T (p.Gln848Ter)

SNV
Germline

Chr6:33173914

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA363643123

rs_1242624892

1 SubmittersRCV003665500

NM_080680.3(COL11A2):c.2791-2A>G

SNV
Germline

Chr6:33172639

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA363638361

rs_2534898361

1 SubmittersRCV003672625

NM_080680.3(COL11A2):c.1924C>T (p.Gln642Ter)

SNV
Germline

Chr6:33177459

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA363654747

rs_1365799072

1 SubmittersRCV003680013

NM_080680.3(COL11A2):c.3524C>T (p.Pro1175Leu)

SNV
Germline

Chr6:33170561

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3750484

rs_775793988

2 SubmittersRCV003683066

NM_080680.3(COL11A2):c.1434G>A (p.Leu478=)

SNV
Germline

Chr6:33179731

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA449837845

rs_2535270765

2 SubmittersRCV003684022

NM_080680.3(COL11A2):c.745C>T (p.Gln249Ter)

SNV
Germline

Chr6:33186680

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA363610210

rs_2535503276

1 SubmittersRCV003681164

NM_080680.3(COL11A2):c.1557+1G>A

SNV
Germline

Chr6:33179230

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA363605580

rs_2535244117

1 SubmittersRCV003714035

NM_080680.3(COL11A2):c.2682+2T>G

SNV
Germline

Chr6:33173500

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA363641400

rs_1583320505

1 SubmittersRCV003694321

NM_080680.3(COL11A2):c.812T>G (p.Leu271Arg)

SNV
Germline

Chr6:33185765

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA363609681

rs_1318659706

2 SubmittersRCV003695144

NM_080680.3(COL11A2):c.3150+5G>A

SNV
Germline

Chr6:33171708

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA2739272970

rs_2534839862

1 SubmittersRCV003703816

NM_080680.3(COL11A2):c.3043-2A>T

SNV
Germline

Chr6:33171822

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA363636601

rs_2534848742

1 SubmittersRCV003697027

NM_080680.3(COL11A2):c.3032C>G (p.Pro1011Arg)

SNV
Germline

Chr6:33172060

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3750666

rs_754998680

2 SubmittersRCV003704618 RCV005323529

NM_080680.3(COL11A2):c.4978C>T (p.Arg1660Cys)

SNV
Germline

Chr6:33164359

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3749942

rs_546841812

2 SubmittersRCV003717216

NM_080680.3(COL11A2):c.2158C>T (p.Arg720Ter)

SNV
Germline

Chr6:33176444

Pathogenic

Condition: not provided
Monogenic hearing loss
Otospondylomegaepiphyseal dysplasia, autosomal dominant

Criteria Provided
Multiple Submitters
No Conflicts

CA3751029

rs_778929272

3 SubmittersRCV003729385 RCV006454818 RCV006555123

NM_080680.3(COL11A2):c.4210G>T (p.Ala1404Ser)

SNV
Germline

Chr6:33167090

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

CA3750183

rs_749171377

2 SubmittersRCV003729415

NM_080680.3(COL11A2):c.3818G>C (p.Gly1273Ala)

SNV
Germline

Chr6:33168989

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3750358

rs_759985112

2 SubmittersRCV003734198 RCV005537663

NM_080680.3(COL11A2):c.352C>T (p.Arg118Ter)

SNV
Germline

Chr6:33189069

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA363612514

rs_1433241638

1 SubmittersRCV003735688

NM_080680.3(COL11A2):c.4127A>G (p.Gln1376Arg)

SNV
Germline

Chr6:33167313

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

CA363622779

rs_2534570132

1 SubmittersRCV003739377

NM_080680.3(COL11A2):c.4798C>T (p.Arg1600Ter)

SNV
Germline

Chr6:33164917

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA363617637

rs_2534413642

3 SubmittersRCV003738958 RCV005037022

NM_080680.3(COL11A2):c.4234C>T (p.His1412Tyr)

SNV
Germline

Chr6:33166824

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3750155

rs_757898834

2 SubmittersRCV003835728 RCV004366858

NM_080680.3(COL11A2):c.2159G>C (p.Arg720Pro)

SNV
Germline

Chr6:33176443

Conflicting classifications of pathogenicity

Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA363649815

rs_756050324

2 SubmittersRCV003842125 RCV003994596

NM_080680.3(COL11A2):c.1297C>T (p.Arg433Ter)

SNV
Germline

Chr6:33180320

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA363606238

rs_764045158

3 SubmittersRCV003871150 RCV005040599

NM_080680.3(COL11A2):c.4598C>T (p.Ala1533Val)

SNV
Germline

Chr6:33165701

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3750042

rs_748442759

2 SubmittersRCV003878518 RCV005806864

NM_080680.3(COL11A2):c.1798C>T (p.Arg600Ter)

SNV
Germline

Chr6:33178328

Likely pathogenic

COL11A2-related disorder

No Assertion Criteria Provided

CA3751202

rs_757215211

1 SubmittersRCV003913950

NM_080680.3(COL11A2):c.607-2A>T

SNV
Germline

Chr6:33186820

Likely pathogenic

COL11A2-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA363610725

rs_1280126526

2 SubmittersRCV004544209 RCV006564563

NM_080680.3(COL11A2):c.4142G>A (p.Gly1381Glu)

SNV
Germline

Chr6:33167298

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA363622651

rs_2534568745

2 SubmittersRCV004526577 RCV005038698

NM_080680.3(COL11A2):c.3852+1G>A

SNV
Germline

Chr6:33168954

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

rs_2150532832

1 SubmittersRCV004590554

NM_080680.3(COL11A2):c.3295G>C (p.Gly1099Arg)

SNV
Germline

Chr6:33171288

Conflicting classifications of pathogenicity

not specified
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

2 SubmittersRCV004691077 RCV005038779

NM_080680.3(COL11A2):c.2405G>T (p.Gly802Val)

SNV
Germline

Chr6:33174552

Likely pathogenic

COL11A2-related disorder

No Assertion Criteria Provided

1 SubmittersRCV004726545

NM_080680.3(COL11A2):c.3211C>T (p.Pro1071Ser)

SNV
Germline

Chr6:33171514

Conflicting classifications of pathogenicity

COL11A2-related disorder
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

3 SubmittersRCV004726247 RCV004981180 RCV005103646

NM_080680.3(COL11A2):c.3838G>T (p.Glu1280Ter)

SNV
Germline

Chr6:33168969

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV004776070

NM_080680.3(COL11A2):c.4991T>C (p.Leu1664Pro)

SNV
Germline

Chr6:33164346

Conflicting classifications of pathogenicity

Autosomal dominant nonsyndromic hearing loss 13
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004788336 RCV006617200

NM_080680.3(COL11A2):c.4081A>T (p.Lys1361Ter)

SNV
Germline

Chr6:33167467

Likely pathogenic

Fibrochondrogenesis 2
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Autosomal dominant nonsyndromic hearing loss 13
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Autosomal recessive nonsyndromic hearing loss 53

Criteria Provided
Single Submitter

1 SubmittersRCV005039671

NM_080680.3(COL11A2):c.3746G>A (p.Gly1249Glu)

SNV
Germline

Chr6:33169435

Likely pathogenic

Fibrochondrogenesis 2
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Autosomal dominant nonsyndromic hearing loss 13
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Autosomal recessive nonsyndromic hearing loss 53

Criteria Provided
Single Submitter

1 SubmittersRCV005039673

NM_080680.3(COL11A2):c.2567G>A (p.Gly856Glu)

SNV
Germline

Chr6:33173889

Likely pathogenic

Fibrochondrogenesis 2
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Autosomal dominant nonsyndromic hearing loss 13
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Autosomal recessive nonsyndromic hearing loss 53

Criteria Provided
Single Submitter

1 SubmittersRCV005039676

NM_080680.3(COL11A2):c.2062G>A (p.Gly688Arg)

SNV
Germline

Chr6:33177000

Likely pathogenic

Fibrochondrogenesis 2
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Autosomal dominant nonsyndromic hearing loss 13
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Autosomal recessive nonsyndromic hearing loss 53

Criteria Provided
Single Submitter

1 SubmittersRCV005045659

NM_080680.3(COL11A2):c.3636+1G>A

SNV
Germline

Chr6:33170046

Pathogenic

Autosomal recessive nonsyndromic hearing loss 53

Criteria Provided
Single Submitter

1 SubmittersRCV005052977

NM_080680.3(COL11A2):c.4339G>C (p.Gly1447Arg)

SNV
Germline

Chr6:33166566

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 53

Criteria Provided
Single Submitter

1 SubmittersRCV005052978

NM_080680.3(COL11A2):c.4483-1G>C

SNV
Germline

Chr6:33165817

Pathogenic

Autosomal recessive nonsyndromic hearing loss 53

Criteria Provided
Single Submitter

1 SubmittersRCV005052980

NM_080680.3(COL11A2):c.4553G>C (p.Gly1518Ala)

SNV
Germline

Chr6:33165746

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 53

Criteria Provided
Single Submitter

1 SubmittersRCV005052981

NM_080680.3(COL11A2):c.5191C>A (p.Pro1731Thr)

SNV
Germline

Chr6:33163698

Conflicting classifications of pathogenicity

Autosomal recessive nonsyndromic hearing loss 53
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005052982 RCV005402228

NM_080680.3(COL11A2):c.446G>A (p.Trp149Ter)

SNV
Germline

Chr6:33188522

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005137773

NM_080680.3(COL11A2):c.1819-2A>G

SNV
Germline

Chr6:33178187

Likely pathogenic

Condition: not provided
Autosomal dominant nonsyndromic hearing loss 13

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005138357 RCV005415693

NM_080680.3(COL11A2):c.2722C>T (p.Gln908Ter)

SNV
Germline

Chr6:33173362

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005150474

NM_080680.3(COL11A2):c.914C>A (p.Ser305Ter)

SNV
Germline

Chr6:33185017

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005143451

NM_080680.3(COL11A2):c.4661T>A (p.Ile1554Asn)

SNV
Germline

Chr6:33165638

Conflicting classifications of pathogenicity

Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005155968

NM_080680.3(COL11A2):c.1825C>T (p.Arg609Ter)

SNV
Germline

Chr6:33178179

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005152050

NM_080680.3(COL11A2):c.2023C>T (p.Gln675Ter)

SNV
Germline

Chr6:33177039

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005154670

NM_080680.3(COL11A2):c.2620G>T (p.Gly874Ter)

SNV
Germline

Chr6:33173709

Pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005201156

NM_080680.3(COL11A2):c.4338+1G>C

SNV
Germline

Chr6:33166719

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV005205777

NM_080680.3(COL11A2):c.1360-2A>T

SNV
Germline

Chr6:33179807

Likely pathogenic

COL11A2-related disorder

Criteria Provided
Single Submitter

1 SubmittersRCV005229613

NM_080680.3(COL11A2):c.840T>A (p.Tyr280Ter)

SNV
Unknown

Chr6:33185737

Pathogenic

Autosomal recessive nonsyndromic hearing loss 53

Criteria Provided
Single Submitter

1 SubmittersRCV005623260

NM_080680.3(COL11A2):c.1573C>T (p.Gln525Ter)

SNV
Unknown

Chr6:33179111

Pathogenic

Autosomal recessive nonsyndromic hearing loss 53

Criteria Provided
Single Submitter

1 SubmittersRCV005623261

NM_080680.3(COL11A2):c.3583-1G>A

SNV
Germline

Chr6:33170101

Likely pathogenic

Otospondylomegaepiphyseal dysplasia, autosomal recessive

No Assertion Criteria Provided

1 SubmittersRCV006456085

NM_080680.3(COL11A2):c.1611+2T>C

SNV
Germline

Chr6:33179071

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV006250343

NM_080680.3(COL11A2):c.3341G>A (p.Gly1114Asp)

SNV
Germline

Chr6:33171139

Likely pathogenic

Monogenic hearing loss

Criteria Provided
Single Submitter

1 SubmittersRCV006455018

NM_080680.3(COL11A2):c.4153C>T (p.Gln1385Ter)

SNV
Germline

Chr6:33167287

Pathogenic

Otospondylomegaepiphyseal dysplasia, autosomal recessive

Criteria Provided
Single Submitter

1 SubmittersRCV006456134

NM_080680.3(COL11A2):c.3150+1G>A

SNV
Germline

Chr6:33171712

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV006529302

NM_080680.3(COL11A2):c.939+1G>C

SNV
Germline

Chr6:33184991

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV006519187

NM_080680.3(COL11A2):c.1359+1G>T

SNV
Germline

Chr6:33180257

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV006525164

NM_080680.3(COL11A2):c.4123-1G>C

SNV
Germline

Chr6:33167318

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV006593970

NM_080680.3(COL11A2):c.2430+2T>G

SNV
Germline

Chr6:33174525

Likely pathogenic

Condition: not provided

Criteria Provided
Single Submitter

1 SubmittersRCV006598145

NM_080680.3(COL11A2):c.1901G>C (p.Gly634Ala)

SNV
Unknown

Chr6:33177678

Likely pathogenic

Otospondylomegaepiphyseal dysplasia, autosomal dominant

Criteria Provided
Single Submitter

1 SubmittersRCV006597542

NM_080680.3(COL11A2):c.3640G>T (p.Glu1214Ter)

SNV
Unknown

Chr6:33169881

Pathogenic

Otospondylomegaepiphyseal dysplasia, autosomal recessive

Criteria Provided
Single Submitter

1 SubmittersRCV006697045

NM_080680.3(COL11A2):c.444-2A>G

SNV
Germline

Chr6:33188526

Likely pathogenic

Autosomal recessive nonsyndromic hearing loss 53
Fibrochondrogenesis 2
Autosomal dominant nonsyndromic hearing loss 13
Otospondylomegaepiphyseal dysplasia, autosomal recessive
Otospondylomegaepiphyseal dysplasia, autosomal dominant

Criteria Provided
Single Submitter

1 SubmittersRCV006741632