Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001854.4(COL11A1):c.1874G>T (p.Gly625Val)	SNV Germline	Chr1:103004633	Pathogenic	Stickler syndrome type 2	No Assertion Criteria Provided	CA281694	rs_121912943	1 SubmittersRCV000018669
NM_001854.4(COL11A1):c.2927G>T (p.Gly976Val)	SNV Germline	Chr1:102962750	Pathogenic	Marshall/Stickler syndrome	No Assertion Criteria Provided	CA281061	rs_121912944	1 SubmittersRCV000018671
NM_001851.6(COL9A1):c.883C>T (p.Arg295Ter)	SNV Germline	Chr6:70281033	Pathogenic	Stickler syndrome, type 4 See cases	Criteria Provided Single Submitter	CA341439	rs_121912931	3 SubmittersRCV000018735 RCV001420255
NM_001844.5(COL2A1):c.2794C>T (p.Arg932Ter)	SNV Germline	Chr12:47978698	Pathogenic	Stickler syndrome type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA281739	rs_121912866	4 SubmittersRCV000018899 RCV000726311
NM_001844.5(COL2A1):c.625C>T (p.Arg209Ter)	SNV Germline	Chr12:47995904	Pathogenic	Stickler syndrome type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA281742	rs_121912869	3 SubmittersRCV000018904 RCV000579130
NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser)	SNV Germline	Chr12:47975971	Pathogenic/Likely pathogenic	Spondyloepiphyseal dysplasia congenita Condition: not provided Stickler syndrome type 1 Namaqualand hip dysplasia Spondyloperipheral dysplasia Type 2 collagenopathy Spondyloepimetaphyseal dysplasia, Strudwick type Connective tissue disorder	Criteria Provided Multiple Submitters No Conflicts	CA250671	rs_121912870	13 SubmittersRCV000018905 RCV000484896 RCV002247358 RCV002272023 RCV003152666 RCV003320353 RCV001729352 RCV002276564
NM_001844.5(COL2A1):c.800G>A (p.Gly267Asp)	SNV Germline	Chr12:47994440	Pathogenic	Stickler syndrome, type I, nonsyndromic ocular	No Assertion Criteria Provided	CA127156	rs_121912872	1 SubmittersRCV000018908
NM_001844.5(COL2A1):c.823C>T (p.Arg275Cys)	SNV Germline	Chr12:47994041	Pathogenic	Spondyloepiphyseal dysplasia with metatarsal shortening Condition: not provided Stickler syndrome type 1 Acetabular dysplasia Achondrogenesis type II	Criteria Provided Multiple Submitters No Conflicts	CA127158	rs_121912876	8 SubmittersRCV000018912 RCV001385337 RCV000988828 RCV003228897 RCV003323361
NM_001844.5(COL2A1):c.1420-2A>G	SNV Germline	Chr12:47986445	Pathogenic	Kniest dysplasia Stickler syndrome type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_794727377	3 SubmittersRCV000018913 RCV002247359 RCV002513112
NM_001844.5(COL2A1):c.1222-2A>G	SNV Germline	Chr12:47987315	Pathogenic	Stickler syndrome type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_2136577259	3 SubmittersRCV000018917 RCV002513113
NM_001844.5(COL2A1):c.1680+1G>A	SNV Germline	Chr12:47985727	Pathogenic	Stickler syndrome type 1 Condition: not provided	Criteria Provided Single Submitter		rs_1057524696	2 SubmittersRCV000018925 RCV001851925
NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys)	SNV Germline	Chr12:47985575	Pathogenic/Likely pathogenic	Stickler syndrome type 1 Condition: not provided Retinal dystrophy Achondrogenesis type II Stickler syndrome, type I, nonsyndromic ocular COL2A1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA281746	rs_121912884	11 SubmittersRCV000018926 RCV000413561 RCV001074673 RCV001197973 RCV001807733 RCV004528123
NM_001844.5(COL2A1):c.1999C>T (p.Leu667Phe)	SNV Germline	Chr12:47983435	Pathogenic	Stickler syndrome, type I, nonsyndromic ocular Stickler syndrome type 1	No Assertion Criteria Provided	CA127165	rs_121912885	2 SubmittersRCV000018927 RCV000144727
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter)	SNV Germline	Chr12:47983721	Pathogenic	Stickler syndrome type 1 Autosomal dominant rhegmatogenous retinal detachment Condition: not provided 14 conditions	Criteria Provided Multiple Submitters No Conflicts	CA127176	rs_121912893	7 SubmittersRCV000018938 RCV000018939 RCV000481275 RCV000762896
NM_001844.5(COL2A1):c.709-2A>G	SNV Germline	Chr12:47995310	Pathogenic	Stickler syndrome type 1	No Assertion Criteria Provided		rs_1592232116	1 SubmittersRCV000018942
NM_001844.5(COL2A1):c.3886+2T>C	SNV Germline	Chr12:47975315	Pathogenic	Stickler syndrome, type I, nonsyndromic ocular	No Assertion Criteria Provided		rs_1592196064	1 SubmittersRCV000018943
NM_001844.5(COL2A1):c.141G>A (p.Trp47Ter)	SNV Germline	Chr12:48000070	Pathogenic	Stickler syndrome, type I, nonsyndromic ocular	No Assertion Criteria Provided	CA127181	rs_121912896	1 SubmittersRCV000018944
NM_001844.5(COL2A1):c.192C>A (p.Cys64Ter)	SNV Germline	Chr12:48000019	Pathogenic	Stickler syndrome, type I, nonsyndromic ocular Condition: not provided Stickler syndrome type 1 COL2A1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA127183	rs_121912897	7 SubmittersRCV000018945 RCV000657640 RCV002470714 RCV004532390
NM_001844.5(COL2A1):c.170G>A (p.Cys57Tyr)	SNV Germline	Chr12:48000041	Pathogenic	Stickler syndrome, type I, nonsyndromic ocular	No Assertion Criteria Provided	CA127185	rs_121912898	1 SubmittersRCV000018946
NM_001854.4(COL11A1):c.3816+1G>A	SNV Germline	Chr1:102915630	Pathogenic	Marshall syndrome Condition: not provided Inborn genetic diseases Stickler syndrome type 2 COL11A1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA281108	rs_398122828	9 SubmittersRCV000032995 RCV000579344 RCV000623510 RCV002468558 RCV003313929
NM_080680.3(COL11A2):c.1615C>T (p.Arg539Trp)	SNV Germline	Chr6:33178970	Conflicting classifications of pathogenicity	not specified Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive Otospondylomegaepiphyseal dysplasia, autosomal dominant Stickler Syndrome, Dominant Connective tissue disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA138614	rs_145499142	12 SubmittersRCV000039826 RCV000268570 RCV000305029 RCV000319689 RCV000359665 RCV000659336 RCV000709864
NM_001844.5(COL2A1):c.4064G>A (p.Gly1355Asp)	SNV Germline	Chr12:47974685	Conflicting classifications of pathogenicity	Condition: not provided Type II Collagenopathies Stickler syndrome type 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA221742	rs_201646745	5 SubmittersRCV000079727 RCV000378068 RCV000283561 RCV003242977
NM_001854.4(COL11A1):c.215C>G (p.Thr72Ser)	SNV Germline	Chr1:103082864	Conflicting classifications of pathogenicity	Stickler syndrome type 2 Fibrochondrogenesis 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA221845	rs_56230601	4 SubmittersRCV000269415 RCV000329141 RCV000079907
NM_001851.6(COL9A1):c.1519C>T (p.Arg507Ter)	SNV Germline	Chr6:70255375	Pathogenic	Stickler syndrome, type 4 Condition: not provided Connective tissue disorder	Criteria Provided Multiple Submitters No Conflicts	CA273005	rs_189754995	3 SubmittersRCV000148951 RCV001382407 RCV002277296
NM_080680.3(COL11A2):c.4683A>G (p.Thr1561=)	SNV Germline	Chr6:33165616	Conflicting classifications of pathogenicity	not specified Stickler Syndrome, Dominant Otospondylomegaepiphyseal dysplasia, autosomal recessive Otospondylomegaepiphyseal dysplasia, autosomal dominant Fibrochondrogenesis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA175557	rs_34055850	8 SubmittersRCV000150347 RCV000274971 RCV000299642 RCV000367094 RCV000404657 RCV001521033
NM_080680.3(COL11A2):c.3932A>G (p.Asn1311Ser)	SNV Germline	Chr6:33168547	Conflicting classifications of pathogenicity	not specified Otospondylomegaepiphyseal dysplasia, autosomal recessive Otospondylomegaepiphyseal dysplasia, autosomal dominant Fibrochondrogenesis 2 Stickler Syndrome, Dominant Autosomal dominant nonsyndromic hearing loss 13 Condition: not provided COL11A2-related disorder	Criteria Provided Conflicting Classifications	CA183082	rs_727504460	6 SubmittersRCV000155584 RCV000261111 RCV000301208 RCV000353712 RCV000368741 RCV000477787 RCV001651028 RCV003907479
NM_080680.3(COL11A2):c.3616C>T (p.Leu1206=)	SNV Germline	Chr6:33170067	Conflicting classifications of pathogenicity	not specified Stickler Syndrome, Dominant Otospondylomegaepiphyseal dysplasia, autosomal dominant Otospondylomegaepiphyseal dysplasia, autosomal recessive Fibrochondrogenesis 2 Condition: not provided COL11A2-related disorder	Criteria Provided Conflicting Classifications	CA182113	rs_147576338	7 SubmittersRCV000155069 RCV000338212 RCV000278452 RCV000332238 RCV000372982 RCV000731331 RCV003945231
NM_080680.3(COL11A2):c.3576C>T (p.Gly1192=)	SNV Germline	Chr6:33170332	Conflicting classifications of pathogenicity	not specified Otospondylomegaepiphyseal dysplasia, autosomal recessive Fibrochondrogenesis 2 Stickler Syndrome, Dominant Otospondylomegaepiphyseal dysplasia, autosomal dominant Connective tissue disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA182115	rs_138380958	8 SubmittersRCV000155070 RCV000261044 RCV000369862 RCV000330030 RCV000375471 RCV000680466 RCV001409061
NM_080680.3(COL11A2):c.1287C>T (p.Gly429=)	SNV Germline	Chr6:33180330	Conflicting classifications of pathogenicity	not specified Otospondylomegaepiphyseal dysplasia, autosomal recessive Stickler Syndrome, Dominant Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA175571	rs_549704545	4 SubmittersRCV000150355 RCV000263155 RCV000299559 RCV000333620 RCV000354391 RCV001552633
NM_080680.3(COL11A2):c.5000G>A (p.Arg1667His)	SNV Germline	Chr6:33164337	Conflicting classifications of pathogenicity	not specified Otospondylomegaepiphyseal dysplasia, autosomal dominant Otospondylomegaepiphyseal dysplasia, autosomal recessive Fibrochondrogenesis 2 Condition: not provided Stickler Syndrome, Dominant Connective tissue disorder Autosomal recessive nonsyndromic hearing loss 53	Criteria Provided Conflicting Classifications	CA182105	rs_146555195	11 SubmittersRCV000155065 RCV000277747 RCV000326882 RCV000271332 RCV000427587 RCV000381519 RCV000680464 RCV001804866
NM_001854.4(COL11A1):c.4032G>A (p.Pro1344=)	SNV Germline	Chr1:102913637	Conflicting classifications of pathogenicity	Fibrochondrogenesis 1 Stickler syndrome type 2 Connective tissue disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA233798	rs_147637674	6 SubmittersRCV000313074 RCV000349030 RCV000680458 RCV000723756
NM_001852.4(COL9A2):c.1576G>A (p.Val526Met)	SNV Germline	Chr1:40303158	Conflicting classifications of pathogenicity	Condition: not provided Stickler syndrome, type 5	Criteria Provided Conflicting Classifications	CA243036	rs_141556170	4 SubmittersRCV000176927 RCV001507016
NM_001844.5(COL2A1):c.2286G>A (p.Gly762=)	SNV Germline	Chr12:47982517	Conflicting classifications of pathogenicity	Condition: not provided Type II Collagenopathies Stickler syndrome type 1	Criteria Provided Conflicting Classifications	CA244668	rs_371835359	3 SubmittersRCV000177768 RCV000328306 RCV000382831
NM_001844.5(COL2A1):c.2680-9C>T	SNV Germline	Chr12:47979573	Conflicting classifications of pathogenicity	Condition: not provided Type II Collagenopathies Stickler syndrome type 1 COL2A1-related disorder	Criteria Provided Conflicting Classifications	CA245565	rs_369022247	5 SubmittersRCV000723611 RCV001110029 RCV001110028 RCV004537465
NM_001844.5(COL2A1):c.3106C>T (p.Arg1036Ter)	SNV Germline	Chr12:47978015	Pathogenic	Condition: not provided Stickler syndrome type 1	Criteria Provided Multiple Submitters No Conflicts	CA303000	rs_748459670	5 SubmittersRCV000479858 RCV000988819
NM_001854.4(COL11A1):c.3811G>T (p.Val1271Leu)	SNV Germline	Chr1:102915636	Conflicting classifications of pathogenicity	Condition: not provided Fibrochondrogenesis 1 Stickler syndrome type 2 Fibrochondrogenesis 1 Stickler syndrome type 2 Marshall syndrome	Criteria Provided Conflicting Classifications	CA246297	rs_150669855	7 SubmittersRCV000179067 RCV000303130 RCV000395394 RCV002508926
NM_001854.4(COL11A1):c.4057G>A (p.Ala1353Thr)	SNV Germline	Chr1:102912188	Conflicting classifications of pathogenicity	Fibrochondrogenesis 1 Stickler syndrome type 2 Condition: not provided Inborn genetic diseases COL11A1-related disorder	Criteria Provided Conflicting Classifications	CA246381	rs_151249006	7 SubmittersRCV000352679 RCV000399033 RCV000724456 RCV002516788 RCV004537480
NM_001854.4(COL11A1):c.4468A>G (p.Ile1490Val)	SNV Germline	Chr1:102888916	Conflicting classifications of pathogenicity	not specified Stickler syndrome type 2 Fibrochondrogenesis 1 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA203356	rs_145901197	7 SubmittersRCV000179579 RCV000306668 RCV000364746 RCV000897631 RCV004020151
NM_080680.3(COL11A2):c.4652G>A (p.Arg1551Gln)	SNV Germline	Chr6:33165647	Conflicting classifications of pathogenicity	not specified Stickler Syndrome, Dominant Otospondylomegaepiphyseal dysplasia, autosomal recessive Otospondylomegaepiphyseal dysplasia, autosomal dominant Fibrochondrogenesis 2 Condition: not provided COL11A2-related disorder	Criteria Provided Conflicting Classifications	CA246924	rs_145343609	8 SubmittersRCV000218581 RCV000320721 RCV000328722 RCV000381022 RCV000377623 RCV000724415 RCV004545755
NM_001854.4(COL11A1):c.5198G>A (p.Arg1733His)	SNV Germline	Chr1:102879759	Conflicting classifications of pathogenicity	Condition: not provided Stickler syndrome type 2 Fibrochondrogenesis 1 Connective tissue disorder Marshall syndrome COL11A1-related disorder	Criteria Provided Conflicting Classifications	CA246966	rs_140250347	10 SubmittersRCV000179660 RCV000271060 RCV000357636 RCV000680455 RCV001262338 RCV004539684
NM_001854.4(COL11A1):c.965C>T (p.Pro322Leu)	SNV Germline	Chr1:103025546	Conflicting classifications of pathogenicity	Condition: not provided Stickler syndrome type 2 Fibrochondrogenesis 1 not specified COL11A1-related disorder	Criteria Provided Conflicting Classifications	CA247139	rs_183130583	6 SubmittersRCV000179833 RCV001102150 RCV001102151 RCV003488432 RCV004539687
NM_001854.4(COL11A1):c.1021G>C (p.Glu341Gln)	SNV Germline	Chr1:103022966	Conflicting classifications of pathogenicity	not specified Fibrochondrogenesis 1 Stickler syndrome type 2 Condition: not provided COL11A1-related disorder	Criteria Provided Conflicting Classifications	CA247598	rs_144884147	12 SubmittersRCV000180223 RCV000302249 RCV000401943 RCV000724098 RCV004539694
NM_080680.3(COL11A2):c.688G>T (p.Gly230Trp)	SNV Germline	Chr6:33186737	Conflicting classifications of pathogenicity	not specified Stickler Syndrome, Dominant Otospondylomegaepiphyseal dysplasia, autosomal recessive Fibrochondrogenesis 2 Autosomal recessive nonsyndromic hearing loss 53 Autosomal dominant nonsyndromic hearing loss 13 Otospondylomegaepiphyseal dysplasia, autosomal dominant Connective tissue disorder Condition: not provided COL11A2-related disorder	Criteria Provided Conflicting Classifications	CA3751596	rs_141430703	8 SubmittersRCV000217677 RCV000293819 RCV000348697 RCV000393362 RCV000490461 RCV000387942 RCV002277571 RCV001510421 RCV003947688
NM_080680.3(COL11A2):c.4751-9A>G	SNV Germline	Chr6:33164973	Conflicting classifications of pathogenicity	not specified Otospondylomegaepiphyseal dysplasia, autosomal recessive Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal dominant Stickler Syndrome, Dominant Condition: not provided Connective tissue disorder COL11A2-related disorder	Criteria Provided Conflicting Classifications	CA3749999	rs_555680585	6 SubmittersRCV000222702 RCV000284515 RCV000345137 RCV000346515 RCV000407039 RCV000840675 RCV002277577 RCV003929887
NM_080680.3(COL11A2):c.4383C>T (p.Pro1461=)	SNV Germline	Chr6:33166522	Conflicting classifications of pathogenicity	not specified Fibrochondrogenesis 2 Stickler Syndrome, Dominant Otospondylomegaepiphyseal dysplasia, autosomal recessive Otospondylomegaepiphyseal dysplasia, autosomal dominant Condition: not provided COL11A2-related disorder	Criteria Provided Conflicting Classifications	CA3750117	rs_148262058	6 SubmittersRCV000219726 RCV000302355 RCV000310534 RCV000340894 RCV000406161 RCV001705187 RCV003907789
NM_080680.3(COL11A2):c.1612-10G>C	SNV Germline	Chr6:33178983	Conflicting classifications of pathogenicity	not specified Otospondylomegaepiphyseal dysplasia, autosomal dominant Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive Stickler Syndrome, Dominant Connective tissue disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA3751282	rs_182657680	9 SubmittersRCV000219751 RCV000389556 RCV000261045 RCV000374335 RCV000295481 RCV000659335 RCV001513105
NM_080680.3(COL11A2):c.752A>T (p.Gln251Leu)	SNV Germline	Chr6:33186673	Conflicting classifications of pathogenicity	not specified Stickler Syndrome, Dominant Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive Otospondylomegaepiphyseal dysplasia, autosomal dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA3751587	rs_201399429	3 SubmittersRCV000215858 RCV000278458 RCV000262918 RCV000372958 RCV000357558 RCV002517538
NM_080680.3(COL11A2):c.230C>A (p.Pro77Gln)	SNV Germline	Chr6:33189322	Conflicting classifications of pathogenicity	not specified Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal dominant Otospondylomegaepiphyseal dysplasia, autosomal recessive Stickler Syndrome, Dominant Condition: not provided Connective tissue disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3751735	rs_35765893	7 SubmittersRCV000214622 RCV000274718 RCV000385285 RCV000275901 RCV000333347 RCV001722140 RCV002277574 RCV003165522
NM_001844.5(COL2A1):c.2574C>T (p.Gly858=)	SNV Germline	Chr12:47980605	Conflicting classifications of pathogenicity	not specified Connective tissue disorder Stickler syndrome type 1 Type II Collagenopathies Condition: not provided	Criteria Provided Conflicting Classifications	CA6535052	rs_141423593	10 SubmittersRCV000239357 RCV000659400 RCV001110809 RCV001110810 RCV000959727
NM_001854.4(COL11A1):c.3277-13A>C	SNV Germline	Chr1:102940447	Conflicting classifications of pathogenicity	not specified Stickler syndrome type 2 Fibrochondrogenesis 1 Connective tissue disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA974068	rs_371455495	6 SubmittersRCV000242571 RCV000322167 RCV000264812 RCV000659319 RCV001521966
NM_001844.5(COL2A1):c.2949C>T (p.Val983=)	SNV Germline	Chr12:47978345	Conflicting classifications of pathogenicity	not specified Condition: not provided Stickler syndrome type 1 Type II Collagenopathies	Criteria Provided Conflicting Classifications	CA6534943	rs_201719788	5 SubmittersRCV000249904 RCV000918676 RCV001114065 RCV001114064
NM_001844.5(COL2A1):c.1649G>T (p.Arg550Leu)	SNV Germline	Chr12:47985759	Conflicting classifications of pathogenicity	not specified Condition: not provided Stickler syndrome type 1 Orofacial cleft 1	Criteria Provided Conflicting Classifications	CA6535432	rs_186233557	8 SubmittersRCV000254258 RCV000894899 RCV000988827 RCV003320624
NM_001844.5(COL2A1):c.2617G>T (p.Gly873Trp)	SNV Germline	Chr12:47980562	Pathogenic	Condition: not provided Stickler syndrome type 1	Criteria Provided Multiple Submitters No Conflicts	CA10603262	rs_886041713	2 SubmittersRCV000335506 RCV002248504
NM_080680.3(COL11A2):c.4854C>G (p.Asp1618Glu)	SNV Germline	Chr6:33164861	Conflicting classifications of pathogenicity	Otospondylomegaepiphyseal dysplasia, autosomal dominant Nonsyndromic Hearing Loss, Dominant Condition: not provided Otospondylomegaepiphyseal dysplasia, autosomal recessive Stickler Syndrome, Dominant Fibrochondrogenesis 1 Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal dominant Otospondylomegaepiphyseal dysplasia, autosomal recessive Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3749989	rs_151319255	7 SubmittersRCV000263619 RCV000274352 RCV000275678 RCV000374670 RCV000369185 RCV000331778 RCV001249267 RCV003165728
NM_001852.4(COL9A2):c.919G>A (p.Gly307Ser)	SNV Germline	Chr1:40307738	Conflicting classifications of pathogenicity	Condition: not provided Epiphyseal dysplasia, multiple, 2 Stickler syndrome, type 5 Epiphyseal dysplasia, multiple, 2 COL9A2-related disorder	Criteria Provided Conflicting Classifications	CA791670	rs_184896618	6 SubmittersRCV000288033 RCV001097304 RCV002480007 RCV003939967
NM_001851.6(COL9A1):c.1634G>A (p.Arg545His)	SNV Germline	Chr6:70254994	Conflicting classifications of pathogenicity	Stickler syndrome, type 4 Epiphyseal dysplasia, multiple, 6 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3882097	rs_145698301	6 SubmittersRCV000764653 RCV000344967 RCV002518868
NM_001844.5(COL2A1):c.195C>T (p.Asp65=)	SNV Germline	Chr12:48000016	Conflicting classifications of pathogenicity	Connective tissue disorder Condition: not provided Stickler syndrome type 1 Type II Collagenopathies COL2A1-related disorder	Criteria Provided Conflicting Classifications	CA6536076	rs_202210896	8 SubmittersRCV000659384 RCV000725382 RCV001114415 RCV001114416 RCV004535312
NM_001844.5(COL2A1):c.1634A>G (p.Asn545Ser)	SNV Germline	Chr12:47985774	Conflicting classifications of pathogenicity	Type II Collagenopathies Condition: not provided Stickler syndrome type 1	Criteria Provided Conflicting Classifications	CA6535435	rs_145042175	7 SubmittersRCV000278404 RCV000322902 RCV000373035
NM_001844.5(COL2A1):c.3311G>A (p.Gly1104Glu)	SNV Germline	Chr12:47977118	Pathogenic/Likely pathogenic	Condition: not provided Stickler syndrome type 1 Spondyloperipheral dysplasia	Criteria Provided Multiple Submitters No Conflicts	CA10605424	rs_886043356	3 SubmittersRCV000377732 RCV000988818 RCV003152704
NM_001844.5(COL2A1):c.2353C>T (p.Arg785Ter)	SNV Germline	Chr12:47982109	Pathogenic	Condition: not provided Stickler syndrome type 1	Criteria Provided Multiple Submitters No Conflicts	CA10605488	rs_886043410	4 SubmittersRCV000579307 RCV003380537
NM_080680.3(COL11A2):c.4675C>T (p.Arg1559Trp)	SNV Germline	Chr6:33165624	Conflicting classifications of pathogenicity	Stickler Syndrome, Dominant Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive Otospondylomegaepiphyseal dysplasia, autosomal dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA3750023	rs_370966667	4 SubmittersRCV000259748 RCV000316797 RCV000359864 RCV000356933 RCV000725854
NM_001844.5(COL2A1):c.3786C>G (p.Leu1262=)	SNV Germline	Chr12:47975417	Conflicting classifications of pathogenicity	Stickler syndrome type 1 Type II Collagenopathies Connective tissue disorder Condition: not provided COL2A1-related disorder	Criteria Provided Conflicting Classifications	CA6534642	rs_139114389	6 SubmittersRCV000313638 RCV000404529 RCV000659407 RCV000726063 RCV004535396
NM_001854.4(COL11A1):c.2322G>A (p.Lys774=)	SNV Germline	Chr1:102995882	Conflicting classifications of pathogenicity	Fibrochondrogenesis 1 Stickler syndrome type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA974486	rs_140608161	4 SubmittersRCV000364378 RCV000396413 RCV000726319
NM_001854.4(COL11A1):c.3639G>A (p.Gly1213=)	SNV Germline	Chr1:102923351	Conflicting classifications of pathogenicity	Fibrochondrogenesis 1 Stickler syndrome type 2 not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA973919	rs_143651470	7 SubmittersRCV000287252 RCV000342326 RCV000343729 RCV000726358
NM_001854.4(COL11A1):c.*809C>T	SNV Germline	Chr1:102877210	Conflicting classifications of pathogenicity	Fibrochondrogenesis 1 Stickler syndrome type 2	Criteria Provided Conflicting Classifications	CA10607188	rs_143875783	1 SubmittersRCV000277591 RCV000331347
NM_001854.4(COL11A1):c.*1227T>A	SNV Germline	Chr1:102876792	Conflicting classifications of pathogenicity	Fibrochondrogenesis 1 Stickler syndrome type 2	Criteria Provided Conflicting Classifications	CA10607203	rs_538679983	1 SubmittersRCV000280687 RCV000319615
NM_001854.4(COL11A1):c.*1203G>A	SNV Germline	Chr1:102876816	Conflicting classifications of pathogenicity	Stickler syndrome type 2 Fibrochondrogenesis 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA10607205	rs_190577885	3 SubmittersRCV000293782 RCV000351064 RCV001778882
NM_001854.4(COL11A1):c.5003C>T (p.Pro1668Leu)	SNV Germline	Chr1:102881734	Conflicting classifications of pathogenicity	Fibrochondrogenesis 1 Stickler syndrome type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA973347	rs_541676352	3 SubmittersRCV000265566 RCV000361283 RCV002061149
NM_001854.4(COL11A1):c.*17A>G	SNV Germline	Chr1:102878002	Conflicting classifications of pathogenicity	Fibrochondrogenesis 1 Stickler syndrome type 2 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA973235	rs_190728953	3 SubmittersRCV000312598 RCV000394113 RCV001705438 RCV003387826
NM_001854.4(COL11A1):c.4495C>T (p.Pro1499Ser)	SNV Germline	Chr1:102888889	Conflicting classifications of pathogenicity	Fibrochondrogenesis 1 Stickler syndrome type 2 Condition: not provided COL11A1-related disorder	Criteria Provided Conflicting Classifications	CA973507	rs_199952288	4 SubmittersRCV000310065 RCV000399173 RCV001567972 RCV004543154
NM_001854.4(COL11A1):c.3473T>C (p.Val1158Ala)	SNV Germline	Chr1:102935079	Conflicting classifications of pathogenicity	Fibrochondrogenesis 1 Stickler syndrome type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA974003	rs_375675171	4 SubmittersRCV000348216 RCV000406086 RCV001590910
NM_001854.4(COL11A1):c.1180A>G (p.Thr394Ala)	SNV Germline	Chr1:103022807	Conflicting classifications of pathogenicity	Stickler syndrome type 2 Fibrochondrogenesis 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA975103	rs_538837278	2 SubmittersRCV000282658 RCV000337630 RCV001859738
NM_001854.4(COL11A1):c.4594C>G (p.Pro1532Ala)	SNV Germline	Chr1:102888591	Conflicting classifications of pathogenicity	Stickler syndrome type 2 Fibrochondrogenesis 1 Condition: not provided Meniere disease	Criteria Provided Conflicting Classifications	CA973471	rs_140954784	4 SubmittersRCV000279813 RCV000338595 RCV001660559 RCV004567841
NM_001854.4(COL11A1):c.4222G>A (p.Gly1408Ser)	SNV Germline	Chr1:102898692	Conflicting classifications of pathogenicity	Fibrochondrogenesis 1 Stickler syndrome type 2 Condition: not provided Inborn genetic diseases Intervertebral disc disorder Stickler syndrome type 2 Hearing loss, autosomal dominant 37 Marshall syndrome Fibrochondrogenesis 1	Criteria Provided Conflicting Classifications	CA973631	rs_200496207	8 SubmittersRCV000368686 RCV000393287 RCV000488030 RCV002519362 RCV002480062
NM_001854.4(COL11A1):c.3447C>T (p.Pro1149=)	SNV Germline	Chr1:102935105	Conflicting classifications of pathogenicity	Stickler syndrome type 2 Fibrochondrogenesis 1 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA974007	rs_141432979	6 SubmittersRCV000351641 RCV000393367 RCV001443185 RCV001700031
NM_001854.4(COL11A1):c.3297G>C (p.Gly1099=)	SNV Germline	Chr1:102940414	Conflicting classifications of pathogenicity	Fibrochondrogenesis 1 Stickler syndrome type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA974062	rs_768553239	3 SubmittersRCV000323162 RCV000380333 RCV000488327
NM_001854.4(COL11A1):c.4805A>G (p.Asn1602Ser)	SNV Germline	Chr1:102886860	Conflicting classifications of pathogenicity	Stickler syndrome type 2 Fibrochondrogenesis 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA973405	rs_75495145	3 SubmittersRCV000295104 RCV000397331 RCV001770228
NM_001854.4(COL11A1):c.4719G>A (p.Ser1573=)	SNV Germline	Chr1:102886946	Conflicting classifications of pathogenicity	Stickler syndrome type 2 Fibrochondrogenesis 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA973425	rs_3753842	3 SubmittersRCV000306183 RCV000353979 RCV001569059
NM_001854.4(COL11A1):c.4627A>C (p.Ile1543Leu)	SNV Germline	Chr1:102887038	Conflicting classifications of pathogenicity	Stickler syndrome type 2 Fibrochondrogenesis 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA973450	rs_558548172	7 SubmittersRCV000319120 RCV000366831 RCV001579794
NM_001854.4(COL11A1):c.328G>C (p.Gly110Arg)	SNV Germline	Chr1:103078818	Conflicting classifications of pathogenicity	Stickler syndrome type 2 Fibrochondrogenesis 1 Condition: not provided Connective tissue disorder COL11A1-related disorder Meniere disease	Criteria Provided Conflicting Classifications	CA975481	rs_141978499	10 SubmittersRCV000351685 RCV000404285 RCV000513856 RCV000680462 RCV004537629 RCV004567844
NM_001854.4(COL11A1):c.318A>G (p.Lys106=)	SNV Germline	Chr1:103078828	Conflicting classifications of pathogenicity	Fibrochondrogenesis 1 Stickler syndrome type 2 Condition: not provided COL11A1-related disorder	Criteria Provided Conflicting Classifications	CA975483	rs_150668398	6 SubmittersRCV000303801 RCV000398172 RCV000841411 RCV004543155
NM_001854.4(COL11A1):c.107-12C>T	SNV Germline	Chr1:103082984	Conflicting classifications of pathogenicity	Fibrochondrogenesis 1 Stickler syndrome type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA975552	rs_200564243	2 SubmittersRCV000280386 RCV000340193 RCV002059317
NM_001854.4(COL11A1):c.1949C>G (p.Pro650Arg)	SNV Germline	Chr1:103003264	Conflicting classifications of pathogenicity	Fibrochondrogenesis 1 Stickler syndrome type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA974721	rs_199875795	2 SubmittersRCV000290623 RCV000393400 RCV001859737
NM_001854.4(COL11A1):c.1630-13T>C	SNV Germline	Chr1:103008529	Conflicting classifications of pathogenicity	Fibrochondrogenesis 1 Stickler syndrome type 2 Connective tissue disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA974899	rs_370547604	4 SubmittersRCV000298923 RCV000338624 RCV000659312 RCV001697642
NM_001854.4(COL11A1):c.1896G>A (p.Met632Ile)	SNV Germline	Chr1:103004611	Conflicting classifications of pathogenicity	Stickler syndrome type 2 Fibrochondrogenesis 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA974770	rs_199835797	3 SubmittersRCV000315632 RCV000354589 RCV000896116
NM_001854.4(COL11A1):c.1427G>A (p.Arg476His)	SNV Germline	Chr1:103015729	Conflicting classifications of pathogenicity	Fibrochondrogenesis 1 Stickler syndrome type 2 Condition: not provided Meniere disease	Criteria Provided Conflicting Classifications	CA974978	rs_149558726	5 SubmittersRCV000275597 RCV000330638 RCV000494431 RCV004567842
NM_001854.4(COL11A1):c.1506T>C (p.Asp502=)	SNV Germline	Chr1:103014577	Conflicting classifications of pathogenicity	Stickler syndrome type 2 Fibrochondrogenesis 1 Condition: not provided COL11A1-related disorder	Criteria Provided Conflicting Classifications	CA974949	rs_141770006	5 SubmittersRCV000264137 RCV000305207 RCV000922939 RCV004537628
NM_001854.4(COL11A1):c.628A>G (p.Ile210Val)	SNV Germline	Chr1:103074641	Conflicting classifications of pathogenicity	Stickler syndrome type 2 Fibrochondrogenesis 1 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA975398	rs_779282500	3 SubmittersRCV000324984 RCV000384258 RCV001859739 RCV003258737
NM_001854.4(COL11A1):c.898-15T>C	SNV Germline	Chr1:103025628	Conflicting classifications of pathogenicity	Fibrochondrogenesis 1 Stickler syndrome type 2 Condition: not provided not specified Connective tissue disorder	Criteria Provided Conflicting Classifications	CA975201	rs_200242905	5 SubmittersRCV000315727 RCV000374868 RCV002059316 RCV000615388 RCV000659308
NM_001854.4(COL11A1):c.3788C>T (p.Pro1263Leu)	SNV Germline	Chr1:102915659	Conflicting classifications of pathogenicity	Stickler syndrome type 2 Fibrochondrogenesis 1 Stickler syndrome type 2 Hearing loss, autosomal dominant 37 Marshall syndrome Fibrochondrogenesis 1 Intervertebral disc disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA973846	rs_767905237	3 SubmittersRCV000269269 RCV000364042 RCV002487297 RCV002522048
NM_001854.4(COL11A1):c.3229C>A (p.Pro1077Thr)	SNV Germline	Chr1:102946896	Conflicting classifications of pathogenicity	Fibrochondrogenesis 1 Stickler syndrome type 2 Condition: not provided Hearing loss, autosomal dominant 37	Criteria Provided Conflicting Classifications	CA974092	rs_144562769	5 SubmittersRCV000291280 RCV000343870 RCV001823132 RCV003228921
NM_001854.4(COL11A1):c.2020C>T (p.Pro674Ser)	SNV Germline	Chr1:103002770	Conflicting classifications of pathogenicity	Stickler syndrome type 2 Fibrochondrogenesis 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA974667	rs_201849355	3 SubmittersRCV000317432 RCV000378977 RCV001409133
NM_001854.4(COL11A1):c.-50A>G	SNV Germline	Chr1:103108228	Conflicting classifications of pathogenicity	Fibrochondrogenesis 1 Stickler syndrome type 2 not specified	Criteria Provided Conflicting Classifications	CA975605	rs_369810404	2 SubmittersRCV000277506 RCV000332521 RCV000612431
NM_001854.4(COL11A1):c.1489-5C>A	SNV Germline	Chr1:103014599	Conflicting classifications of pathogenicity	Stickler syndrome type 2 Fibrochondrogenesis 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA974954	rs_370997745	4 SubmittersRCV000324902 RCV000359911 RCV000598053
NM_001854.4(COL11A1):c.1320C>T (p.Val440=)	SNV Germline	Chr1:103018848	Conflicting classifications of pathogenicity	Stickler syndrome type 2 Fibrochondrogenesis 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA975026	rs_201585594	3 SubmittersRCV000295627 RCV000389895 RCV000933405
NM_001854.4(COL11A1):c.845A>G (p.Glu282Gly)	SNV Germline	Chr1:103026268	Conflicting classifications of pathogenicity	Stickler syndrome type 2 Fibrochondrogenesis 1 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA975293	rs_199539580	4 SubmittersRCV000321904 RCV000376489 RCV001569728 RCV002519363
NM_001854.4(COL11A1):c.1011A>T (p.Ile337=)	SNV Germline	Chr1:103022976	Conflicting classifications of pathogenicity	Fibrochondrogenesis 1 Stickler syndrome type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA975135	rs_563115409	2 SubmittersRCV000308205 RCV000362860 RCV003765692
NM_001854.4(COL11A1):c.698A>G (p.Tyr233Cys)	SNV Germline	Chr1:103031198	Conflicting classifications of pathogenicity	Stickler syndrome type 2 Fibrochondrogenesis 1 Condition: not provided Connective tissue disorder not specified Meniere disease	Criteria Provided Conflicting Classifications	CA975345	rs_141304474	6 SubmittersRCV000287951 RCV000403940 RCV001660560 RCV002278329 RCV004525918 RCV004567843
NM_001854.4(COL11A1):c.489-7T>G	SNV Germline	Chr1:103074787	Conflicting classifications of pathogenicity	Stickler syndrome type 2 Fibrochondrogenesis 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA975428	rs_372555374	4 SubmittersRCV000296697 RCV000349482 RCV001516125
NM_001852.4(COL9A2):c.1400A>G (p.Gln467Arg)	SNV Germline	Chr1:40303808	Conflicting classifications of pathogenicity	Epiphyseal dysplasia, multiple, 2 not specified Stickler syndrome, type 5 Epiphyseal dysplasia, multiple, 2 Condition: not provided COL9A2-related disorder	Criteria Provided Conflicting Classifications	CA791455	rs_373264436	7 SubmittersRCV000372533 RCV000478668 RCV000763903 RCV001315749 RCV003940120
NM_001852.4(COL9A2):c.1123C>G (p.Arg375Gly)	SNV Germline	Chr1:40304832	Conflicting classifications of pathogenicity	Epiphyseal dysplasia, multiple, 2 Condition: not provided Epiphyseal dysplasia, multiple, 2 Stickler syndrome, type 5 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA791577	rs_375476174	5 SubmittersRCV000360126 RCV000498672 RCV000509212 RCV002520489
NM_080680.3(COL11A2):c.4651C>T (p.Arg1551Trp)	SNV Germline	Chr6:33165648	Conflicting classifications of pathogenicity	Fibrochondrogenesis 2 Stickler Syndrome, Dominant Otospondylomegaepiphyseal dysplasia, autosomal dominant Otospondylomegaepiphyseal dysplasia, autosomal recessive Condition: not provided not specified COL11A2-related disorder	Criteria Provided Conflicting Classifications	CA3750029	rs_141254777	6 SubmittersRCV000294143 RCV000295270 RCV000352446 RCV000391825 RCV000766647 RCV000498284 RCV003401372
NM_080680.3(COL11A2):c.4586C>T (p.Pro1529Leu)	SNV Germline	Chr6:33165713	Conflicting classifications of pathogenicity	Otospondylomegaepiphyseal dysplasia, autosomal dominant Stickler Syndrome, Dominant Otospondylomegaepiphyseal dysplasia, autosomal recessive Fibrochondrogenesis 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA3750047	rs_201315111	3 SubmittersRCV000297620 RCV000306065 RCV000354788 RCV000406272 RCV001553516
NM_080680.3(COL11A2):c.3654A>G (p.Ser1218=)	SNV Germline	Chr6:33169867	Conflicting classifications of pathogenicity	Stickler Syndrome, Dominant Otospondylomegaepiphyseal dysplasia, autosomal recessive Otospondylomegaepiphyseal dysplasia, autosomal dominant Fibrochondrogenesis 2 not specified COL11A2-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA3750420	rs_146962984	5 SubmittersRCV000325506 RCV000331502 RCV000366423 RCV000386057 RCV000605457 RCV003957835 RCV002058602
NM_080680.3(COL11A2):c.3328C>T (p.Pro1110Ser)	SNV Germline	Chr6:33171152	Conflicting classifications of pathogenicity	Otospondylomegaepiphyseal dysplasia, autosomal dominant Stickler Syndrome, Dominant Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive Condition: not provided	Criteria Provided Conflicting Classifications	CA3750551	rs_141164483	3 SubmittersRCV000260343 RCV000348277 RCV000355182 RCV000405447 RCV001580488
NM_080680.3(COL11A2):c.2848C>T (p.Pro950Ser)	SNV Germline	Chr6:33172580	Conflicting classifications of pathogenicity	Otospondylomegaepiphyseal dysplasia, autosomal recessive Stickler Syndrome, Dominant Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA3750711	rs_768902062	3 SubmittersRCV000282164 RCV000283442 RCV000337227 RCV000391260 RCV001770281
NM_080680.3(COL11A2):c.1208C>T (p.Pro403Leu)	SNV Germline	Chr6:33180977	Conflicting classifications of pathogenicity	Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal dominant Stickler Syndrome, Dominant Otospondylomegaepiphyseal dysplasia, autosomal recessive not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA3751427	rs_201179101	4 SubmittersRCV000289243 RCV000330126 RCV000383614 RCV000388187 RCV000506175 RCV001584080
NM_001851.6(COL9A1):c.902C>T (p.Pro301Leu)	SNV Germline	Chr6:70281014	Conflicting classifications of pathogenicity	Condition: not provided Hearing impairment Connective tissue disorder Stickler syndrome, type 4 COL9A1-related disorder	Criteria Provided Conflicting Classifications	CA3882594	rs_192047082	7 SubmittersRCV000991647 RCV001375076 RCV002278615 RCV003447524 RCV003950271
NM_080680.3(COL11A2):c.4951G>A (p.Val1651Ile)	SNV Germline	Chr6:33164386	Conflicting classifications of pathogenicity	Stickler Syndrome, Dominant Otospondylomegaepiphyseal dysplasia, autosomal dominant Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive Condition: not provided	Criteria Provided Conflicting Classifications	CA3749945	rs_766589324	2 SubmittersRCV000292764 RCV000332746 RCV000374418 RCV000338427 RCV001850898
NM_080680.3(COL11A2):c.3092C>T (p.Pro1031Leu)	SNV Germline	Chr6:33171771	Conflicting classifications of pathogenicity	Otospondylomegaepiphyseal dysplasia, autosomal recessive Otospondylomegaepiphyseal dysplasia, autosomal dominant Fibrochondrogenesis 2 Stickler Syndrome, Dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA3750643	rs_528009333	4 SubmittersRCV000274780 RCV000294955 RCV000317488 RCV000389201 RCV000596294
NM_080680.3(COL11A2):c.2182A>T (p.Ile728Phe)	SNV Germline	Chr6:33176291	Conflicting classifications of pathogenicity	Stickler Syndrome, Dominant Otospondylomegaepiphyseal dysplasia, autosomal dominant Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA3751010	rs_188490457	5 SubmittersRCV000276412 RCV000319359 RCV000333898 RCV000353689 RCV001559646 RCV000602277
NM_080680.3(COL11A2):c.453T>C (p.Arg151=)	SNV Germline	Chr6:33188515	Conflicting classifications of pathogenicity	Fibrochondrogenesis 2 Stickler Syndrome, Dominant Otospondylomegaepiphyseal dysplasia, autosomal dominant Otospondylomegaepiphyseal dysplasia, autosomal recessive Condition: not provided	Criteria Provided Conflicting Classifications	CA3751656	rs_147115504	2 SubmittersRCV000290354 RCV000304362 RCV000345336 RCV000390399 RCV002058606
NM_080680.3(COL11A2):c.*706G>T	SNV Germline	Chr6:33162972	Conflicting classifications of pathogenicity	Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive Otospondylomegaepiphyseal dysplasia, autosomal dominant Stickler Syndrome, Dominant	Criteria Provided Conflicting Classifications	CA10626485	rs_548143581	1 SubmittersRCV000301827 RCV000305218 RCV000365271 RCV000403042
NM_080680.3(COL11A2):c.3725C>T (p.Ser1242Leu)	SNV Germline	Chr6:33169456	Conflicting classifications of pathogenicity	Stickler Syndrome, Dominant Otospondylomegaepiphyseal dysplasia, autosomal dominant Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive Condition: not provided Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA3750387	rs_534570825	5 SubmittersRCV000280238 RCV000300075 RCV000408334 RCV000408369 RCV000657971 RCV002523565 RCV000609757
NM_080680.3(COL11A2):c.3267G>A (p.Val1089=)	SNV Germline	Chr6:33171316	Conflicting classifications of pathogenicity	Otospondylomegaepiphyseal dysplasia, autosomal recessive Fibrochondrogenesis 2 Stickler Syndrome, Dominant Otospondylomegaepiphyseal dysplasia, autosomal dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA3750581	rs_781462105	2 SubmittersRCV000266996 RCV000291601 RCV000346715 RCV000381311 RCV002058603
NM_080680.3(COL11A2):c.2416C>T (p.Arg806Cys)	SNV Germline	Chr6:33174541	Conflicting classifications of pathogenicity	Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal dominant Stickler Syndrome, Dominant Otospondylomegaepiphyseal dysplasia, autosomal recessive Condition: not provided	Criteria Provided Conflicting Classifications	CA3750918	rs_376355040	2 SubmittersRCV000268237 RCV000303393 RCV000307051 RCV000360580 RCV002058604
NM_080680.3(COL11A2):c.2215-11A>G	SNV Germline	Chr6:33176080	Conflicting classifications of pathogenicity	Otospondylomegaepiphyseal dysplasia, autosomal dominant Stickler Syndrome, Dominant Otospondylomegaepiphyseal dysplasia, autosomal recessive Fibrochondrogenesis 2	Criteria Provided Conflicting Classifications	CA3750990	rs_557236389	1 SubmittersRCV000305033 RCV000340039 RCV000343499 RCV000391431
NM_080680.3(COL11A2):c.1818+15G>A	SNV Germline	Chr6:33178293	Conflicting classifications of pathogenicity	Stickler Syndrome, Dominant Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive Otospondylomegaepiphyseal dysplasia, autosomal dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA3751191	rs_549588854	2 SubmittersRCV000263379 RCV000266997 RCV000324551 RCV000320843 RCV002524475
NM_080680.3(COL11A2):c.*822C>G	SNV Germline	Chr6:33162856	Conflicting classifications of pathogenicity	Otospondylomegaepiphyseal dysplasia, autosomal dominant Otospondylomegaepiphyseal dysplasia, autosomal recessive Fibrochondrogenesis 2 Stickler Syndrome, Dominant	Criteria Provided Conflicting Classifications	CA10626641	rs_536130072	1 SubmittersRCV000335549 RCV000348721 RCV000374946 RCV000403286
NM_080680.3(COL11A2):c.3883G>A (p.Glu1295Lys)	SNV Germline	Chr6:33168729	Conflicting classifications of pathogenicity	Otospondylomegaepiphyseal dysplasia, autosomal recessive Stickler Syndrome, Dominant Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal dominant Condition: not provided Autosomal recessive nonsyndromic hearing loss 53 Autosomal dominant nonsyndromic hearing loss 13 Otospondylomegaepiphyseal dysplasia, autosomal recessive Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal dominant	Criteria Provided Conflicting Classifications	CA3750325	rs_758507327	5 SubmittersRCV000264819 RCV000323351 RCV000322375 RCV000383939 RCV001850899 RCV002487566
NM_080680.3(COL11A2):c.3850C>T (p.Arg1284Trp)	SNV Germline	Chr6:33168957	Conflicting classifications of pathogenicity	Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive Otospondylomegaepiphyseal dysplasia, autosomal dominant Stickler Syndrome, Dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA10626652	rs_886061315	3 SubmittersRCV000292046 RCV000293307 RCV000352855 RCV000382942 RCV001850900
NM_080680.3(COL11A2):c.2735T>C (p.Val912Ala)	SNV Germline	Chr6:33173349	Conflicting classifications of pathogenicity	Otospondylomegaepiphyseal dysplasia, autosomal dominant Stickler Syndrome, Dominant Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive Condition: not provided	Criteria Provided Conflicting Classifications	CA3750754	rs_548592690	3 SubmittersRCV000274611 RCV000309896 RCV000331935 RCV000366859 RCV001850901
NM_080680.3(COL11A2):c.2684G>C (p.Gly895Ala)	SNV Germline	Chr6:33173400	Conflicting classifications of pathogenicity	Otospondylomegaepiphyseal dysplasia, autosomal recessive Otospondylomegaepiphyseal dysplasia, autosomal dominant Fibrochondrogenesis 2 Stickler Syndrome, Dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA3750764	rs_555936455	3 SubmittersRCV000290480 RCV000344614 RCV000379273 RCV000400234 RCV001538789
NM_080680.3(COL11A2):c.2271C>T (p.Gly757=)	SNV Germline	Chr6:33175679	Conflicting classifications of pathogenicity	Stickler Syndrome, Dominant Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal dominant Otospondylomegaepiphyseal dysplasia, autosomal recessive Connective tissue disorder Condition: not provided COL11A2-related disorder	Criteria Provided Conflicting Classifications	CA3750960	rs_745568808	6 SubmittersRCV000278172 RCV000282672 RCV000335519 RCV000374777 RCV000680470 RCV001338547 RCV003957836
NM_080680.3(COL11A2):c.1381G>T (p.Gly461Cys)	SNV Germline	Chr6:33179784	Conflicting classifications of pathogenicity	Stickler Syndrome, Dominant Fibrochondrogenesis 2 Otospondylomegaepiphyseal dysplasia, autosomal recessive Otospondylomegaepiphyseal dysplasia, autosomal dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA3751368	rs_764998691	3 SubmittersRCV000291185 RCV000346166 RCV000386159 RCV000350359 RCV001662334
NM_080680.3(COL11A2):c.5A>G (p.Glu2Gly)	SNV Germline	Chr6:33192236	Conflicting classifications of pathogenicity	Fibrochondrogenesis 2 Stickler Syndrome, Dominant Otospondylomegaepiphyseal dysplasia, autosomal dominant Otospondylomegaepiphyseal dysplasia, autosomal recessive Condition: not provided Autosomal dominant nonsyndromic hearing loss 13	Criteria Provided Conflicting Classifications	CA3751773	rs_568840295	4 SubmittersRCV000289533 RCV000327462 RCV000384306 RCV000342251 RCV002461106 RCV003387834
NM_001844.5(COL2A1):c.4250A>G (p.Asn1417Ser)	SNV Germline	Chr12:47974156	Conflicting classifications of pathogenicity	Type II Collagenopathies Stickler syndrome type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA6534514	rs_537186508	3 SubmittersRCV000315540 RCV000354121 RCV001582948
NM_001844.5(COL2A1):c.3494C>T (p.Pro1165Leu)	SNV Germline	Chr12:47976066	Conflicting classifications of pathogenicity	Stickler syndrome type 1 Condition: not provided Type II Collagenopathies	Criteria Provided Conflicting Classifications	CA6534720	rs_374156023	2 SubmittersRCV000266329 RCV001850630 RCV000361437
NM_001844.5(COL2A1):c.2819G>A (p.Arg940Gln)	SNV Germline	Chr12:47978673	Conflicting classifications of pathogenicity	Stickler syndrome type 1 Type II Collagenopathies Condition: not provided Stickler syndrome, type I, nonsyndromic ocular	Criteria Provided Conflicting Classifications	CA6534977	rs_533540496	3 SubmittersRCV000289195 RCV000406174 RCV002056296 RCV004549667
NM_001844.5(COL2A1):c.1680+9C>A	SNV Germline	Chr12:47985719	Conflicting classifications of pathogenicity	Type II Collagenopathies Stickler syndrome type 1 COL2A1-related disorder	Criteria Provided Conflicting Classifications	CA6535425	rs_371857655	2 SubmittersRCV000266835 RCV000379960 RCV004544529
NM_001844.5(COL2A1):c.1680+8G>T	SNV Germline	Chr12:47985720	Conflicting classifications of pathogenicity	Type II Collagenopathies Stickler syndrome type 1 COL2A1-related disorder	Criteria Provided Conflicting Classifications	CA6535426	rs_754310324	2 SubmittersRCV000321992 RCV000376050 RCV004544530
NM_001844.5(COL2A1):c.85+10C>G	SNV Germline	Chr12:48004227	Conflicting classifications of pathogenicity	Stickler syndrome type 1 Type II Collagenopathies Connective tissue disorder Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA6536118	rs_769941617	7 SubmittersRCV000285542 RCV000382203 RCV000680498 RCV000919210 RCV000611318
NM_001844.5(COL2A1):c.4375C>T (p.Arg1459Cys)	SNV Germline	Chr12:47973496	Conflicting classifications of pathogenicity	Stickler syndrome type 1 Type II Collagenopathies Condition: not provided	Criteria Provided Conflicting Classifications	CA6534469	rs_148838496	3 SubmittersRCV000312017 RCV000402928 RCV001235510
NM_001844.5(COL2A1):c.4264C>T (p.Arg1422Trp)	SNV Germline	Chr12:47974142	Conflicting classifications of pathogenicity	Type II Collagenopathies Stickler syndrome type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA6534511	rs_754466377	2 SubmittersRCV000350564 RCV000396722 RCV001344740
NM_001844.5(COL2A1):c.3736G>A (p.Gly1246Ser)	SNV Germline	Chr12:47975467	Conflicting classifications of pathogenicity	Type II Collagenopathies Stickler syndrome type 1 not specified Connective tissue disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA6534653	rs_147569641	8 SubmittersRCV000349799 RCV000397377 RCV000438916 RCV000680493 RCV000893653
NM_001844.5(COL2A1):c.2281G>A (p.Ala761Thr)	SNV Germline	Chr12:47982522	Conflicting classifications of pathogenicity	Type II Collagenopathies Stickler syndrome type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA6535166	rs_751436440	3 SubmittersRCV000288414 RCV000343300 RCV002262963
NM_001844.5(COL2A1):c.1366-13C>A	SNV Germline	Chr12:47986901	Conflicting classifications of pathogenicity	Stickler syndrome type 1 Type II Collagenopathies Connective tissue disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA6535495	rs_200984998	4 SubmittersRCV000269517 RCV000364110 RCV000659392 RCV001398631
NM_001844.5(COL2A1):c.1077C>G (p.Val359=)	SNV Germline	Chr12:47989273	Conflicting classifications of pathogenicity	Stickler syndrome type 1 Type II Collagenopathies Condition: not provided	Criteria Provided Conflicting Classifications	CA6535612	rs_202002349	2 SubmittersRCV000265928 RCV000321211 RCV002056298
NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu)	SNV Germline	Chr12:47994437	Conflicting classifications of pathogenicity	Type II Collagenopathies Stickler syndrome type 1 14 conditions Condition: not provided COL2A1-related disorder	Criteria Provided Conflicting Classifications	CA6535779	rs_142770543	6 SubmittersRCV000296689 RCV000351659 RCV000763850 RCV000976095 RCV004537733
NM_001844.5(COL2A1):c.3561T>G (p.Pro1187=)	SNV Germline	Chr12:47975999	Conflicting classifications of pathogenicity	Type II Collagenopathies Stickler Syndrome, Dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA6534708	rs_536885536	3 SubmittersRCV000270293 RCV000306779 RCV001697751
NM_001844.5(COL2A1):c.3047G>A (p.Arg1016Lys)	SNV Germline	Chr12:47978074	Conflicting classifications of pathogenicity	Type II Collagenopathies Stickler syndrome type 1 Condition: not provided Mendelian syndromes with cleft lip/palate COL2A1-related disorder	Criteria Provided Conflicting Classifications	CA6534909	rs_146046296	5 SubmittersRCV000333414 RCV000387243 RCV001403750 RCV003314586 RCV004544528
NM_001844.5(COL2A1):c.2410-11C>T	SNV Germline	Chr12:47981407	Conflicting classifications of pathogenicity	Type II Collagenopathies Stickler syndrome type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA10641337	rs_886049447	2 SubmittersRCV000261465 RCV000356094 RCV001469152
NM_001844.5(COL2A1):c.1938T>C (p.Pro646=)	SNV Germline	Chr12:47984090	Conflicting classifications of pathogenicity	Stickler syndrome type 1 Type II Collagenopathies Condition: not provided	Criteria Provided Conflicting Classifications	CA6535323	rs_368641858	2 SubmittersRCV000273727 RCV000369857 RCV002056297
NM_001844.5(COL2A1):c.1659A>G (p.Glu553=)	SNV Germline	Chr12:47985749	Conflicting classifications of pathogenicity	Stickler syndrome type 1 Type II Collagenopathies Condition: not provided	Criteria Provided Conflicting Classifications	CA6535431	rs_756360655	2 SubmittersRCV000282098 RCV000337083 RCV003765810
NM_001844.5(COL2A1):c.1498G>A (p.Val500Ile)	SNV Germline	Chr12:47986365	Conflicting classifications of pathogenicity	Stickler syndrome type 1 Type II Collagenopathies Condition: not provided	Criteria Provided Conflicting Classifications	CA6535468	rs_768110640	3 SubmittersRCV000312447 RCV000349004 RCV001764277
NM_001844.5(COL2A1):c.1004C>G (p.Thr335Ser)	SNV Germline	Chr12:47992897	Conflicting classifications of pathogenicity	Type II Collagenopathies Stickler Syndrome, Dominant Condition: not provided	Criteria Provided Conflicting Classifications	CA6535669	rs_755043901	3 SubmittersRCV000317732 RCV000372472 RCV001753770
NM_001844.5(COL2A1):c.246C>T (p.Phe82=)	SNV Germline	Chr12:47999965	Conflicting classifications of pathogenicity	Type II Collagenopathies Stickler syndrome type 1 Condition: not provided COL2A1-related disorder	Criteria Provided Conflicting Classifications	CA6536069	rs_142161948	6 SubmittersRCV000331550 RCV000383362 RCV000757109 RCV004544531
NM_001844.5(COL2A1):c.*305G>A	SNV Germline	Chr12:47973102	Conflicting classifications of pathogenicity	Stickler syndrome type 1 Type II Collagenopathies Condition: not provided	Criteria Provided Conflicting Classifications	CA10642340	rs_532700241	2 SubmittersRCV000309876 RCV000366892 RCV003391102
NM_001844.5(COL2A1):c.4117G>A (p.Val1373Ile)	SNV Germline	Chr12:47974289	Conflicting classifications of pathogenicity	Type II Collagenopathies Stickler syndrome type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA6534531	rs_778382364	2 SubmittersRCV000272004 RCV000357617 RCV001850629
NM_001851.6(COL9A1):c.876+2T>A	SNV Germline	Chr6:70281388	Conflicting classifications of pathogenicity	Epiphyseal dysplasia, multiple, 6 Condition: not provided Stickler syndrome, type 4 COL9A1-related disorder	Criteria Provided Conflicting Classifications	CA3882632	rs_149830493	6 SubmittersRCV000415246 RCV000579034 RCV001334962 RCV004529569
NM_001854.4(COL11A1):c.2754+5G>A	SNV Germline	Chr1:102978703	Pathogenic	Stickler syndrome type 2 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16043725	rs_1057518666	3 SubmittersRCV000414977 RCV000489508
NM_001854.4(COL11A1):c.4802C>A (p.Thr1601Asn)	SNV Germline	Chr1:102886863	Conflicting classifications of pathogenicity	Condition: not provided Connective tissue disorder Stickler syndrome type 2 Fibrochondrogenesis 1 Inborn genetic diseases COL11A1-related disorder	Criteria Provided Conflicting Classifications	CA973407	rs_143206624	6 SubmittersRCV000439022 RCV000680456 RCV001097885 RCV001097884 RCV004022502 RCV004533127
NM_001844.5(COL2A1):c.2818C>T (p.Arg940Ter)	SNV Germline	Chr12:47978674	Pathogenic	Condition: not provided Stickler syndrome type 1 COL2A1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA16606625	rs_1057524114	4 SubmittersRCV000438911 RCV001526694 RCV004533123
NM_001852.4(COL9A2):c.2059A>G (p.Lys687Glu)	SNV Germline	Chr1:40301193	Conflicting classifications of pathogenicity	Intervertebral disc disorder Epiphyseal dysplasia, multiple, 2 Stickler syndrome, type 5 Epiphyseal dysplasia, multiple, 2 Condition: not provided Meniere disease	Criteria Provided Conflicting Classifications	CA791246	rs_201847956	5 SubmittersRCV000477829 RCV001100678 RCV001489852 RCV004568139
NM_001844.5(COL2A1):c.1300C>T (p.Pro434Ser)	SNV Germline	Chr12:47987143	Conflicting classifications of pathogenicity	Stickler syndrome type 1 Type II Collagenopathies Condition: not provided Hearing impairment COL2A1-related disorder	Criteria Provided Conflicting Classifications	CA6535523	rs_140985224	8 SubmittersRCV001110199 RCV001110200 RCV000723634 RCV001375461 RCV004535536
NM_001844.5(COL2A1):c.1597C>T (p.Arg533Ter)	SNV Germline	Chr12:47985811	Pathogenic	Condition: not provided Stickler syndrome type 1 Heart, malformation of Micrognathia Connective tissue disorder See cases	Criteria Provided Multiple Submitters No Conflicts	CA384551753	rs_1085307608	9 SubmittersRCV000489991 RCV002286574 RCV002264702 RCV002279261 RCV003155213
NM_001844.5(COL2A1):c.655G>A (p.Gly219Arg)	SNV Germline	Chr12:47995763	Pathogenic	Condition: not provided Stickler syndrome type 1 COL2A1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA384523805	rs_1131691822	3 SubmittersRCV000494511 RCV001089571 RCV004527601
NM_001844.5(COL2A1):c.2141G>A (p.Gly714Asp)	SNV Germline	Chr12:47982900	Conflicting classifications of pathogenicity	not specified Stickler syndrome type 1	Criteria Provided Conflicting Classifications	CA384547035	rs_1555166537	2 SubmittersRCV000506248 RCV003988849
NM_001851.6(COL9A1):c.353G>A (p.Arg118Gln)	SNV Germline	Chr6:70294510	Conflicting classifications of pathogenicity	Condition: not provided Stickler syndrome, type 4 Epiphyseal dysplasia, multiple, 6	Criteria Provided Conflicting Classifications	CA3882832	rs_143848379	4 SubmittersRCV000732119 RCV000764655
NM_001844.5(COL2A1):c.2101C>T (p.Arg701Ter)	SNV Germline	Chr12:47982940	Pathogenic	Condition: not provided Stickler syndrome type 1	Criteria Provided Multiple Submitters No Conflicts	CA384547258	rs_1555166555	4 SubmittersRCV000522045 RCV000988825
NM_001854.4(COL11A1):c.4547G>T (p.Gly1516Val)	SNV Germline	Chr1:102888730	Pathogenic/Likely pathogenic	Condition: not provided Marshall syndrome Stickler syndrome type 2 Marshall syndrome Hearing loss, autosomal dominant 37 Stickler syndrome type 2	Criteria Provided Multiple Submitters No Conflicts	CA341212387	rs_1553193910	4 SubmittersRCV000591257 RCV000624108 RCV001824151 RCV001799515
NM_001854.4(COL11A1):c.4087-4A>G	SNV Germline	Chr1:102898998	Conflicting classifications of pathogenicity	Fibrochondrogenesis 1 Stickler syndrome type 2 Condition: not provided COL11A1-related disorder	Criteria Provided Conflicting Classifications	CA973675	rs_137999403	4 SubmittersRCV001101757 RCV001101756 RCV000919370 RCV004533237
NM_001844.5(COL2A1):c.3385C>T (p.Leu1129=)	SNV Germline	Chr12:47976862	Conflicting classifications of pathogenicity	not specified Type II Collagenopathies Stickler syndrome type 1 Condition: not provided COL2A1-related disorder	Criteria Provided Conflicting Classifications	CA6534774	rs_745633496	4 SubmittersRCV000614112 RCV001109932 RCV001109933 RCV001474367 RCV004544744
NM_001844.5(COL2A1):c.1023+3G>A	SNV Germline	Chr12:47992875	Conflicting classifications of pathogenicity	Stickler syndrome type 1 Type II Collagenopathies Condition: not provided	Criteria Provided Conflicting Classifications	CA6535660	rs_374570848	3 SubmittersRCV001112956 RCV001112957 RCV001697443
NM_001844.5(COL2A1):c.3120C>T (p.Pro1040=)	SNV Germline	Chr12:47977645	Conflicting classifications of pathogenicity	Stickler syndrome type 1 Type II Collagenopathies Condition: not provided not specified COL2A1-related disorder	Criteria Provided Conflicting Classifications	CA236521255	rs_367982631	6 SubmittersRCV001112704 RCV001112705 RCV001481593 RCV001729657 RCV004544754
NM_001853.4(COL9A3):c.1411C>T (p.Arg471Ter)	SNV Germline	Chr20:62836196	Pathogenic	Inborn genetic diseases Stickler syndrome, IIa 6 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA9949974	rs_747896279	3 SubmittersRCV000623697 RCV002279960 RCV003117430
NM_001844.5(COL2A1):c.3723C>T (p.Ala1241=)	SNV Germline	Chr12:47975480	Conflicting classifications of pathogenicity	Connective tissue disorder Stickler syndrome type 1 Type II Collagenopathies Condition: not provided	Criteria Provided Conflicting Classifications		rs_200993187	5 SubmittersRCV000659405 RCV001113968 RCV001112622 RCV001511229
NM_001844.5(COL2A1):c.3166-1G>A	SNV Germline	Chr12:47977428	Pathogenic	Stickler syndrome type 1	Criteria Provided Single Submitter		rs_1555165204	1 SubmittersRCV000659402
NM_001844.5(COL2A1):c.2304T>C (p.Gly768=)	SNV Germline	Chr12:47982158	Conflicting classifications of pathogenicity	Connective tissue disorder Condition: not provided Stickler syndrome type 1	Criteria Provided Conflicting Classifications		rs_925297712	3 SubmittersRCV000659397 RCV002066958 RCV002470945
NM_001844.5(COL2A1):c.2049+1G>A	SNV Germline	Chr12:47983384	Likely pathogenic	Stickler syndrome type 1	Criteria Provided Single Submitter		rs_1555166658	1 SubmittersRCV000659394
NM_001844.5(COL2A1):c.1177G>A (p.Gly393Ser)	SNV Germline	Chr12:47987655	Pathogenic	Stickler syndrome type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1025202963	2 SubmittersRCV000659391 RCV001868174
NM_001844.5(COL2A1):c.550G>A (p.Ala184Thr)	SNV Germline	Chr12:47996607	Conflicting classifications of pathogenicity	Connective tissue disorder Stickler syndrome type 1 Type II Collagenopathies Condition: not provided	Criteria Provided Conflicting Classifications		rs_201817670	5 SubmittersRCV000659386 RCV001111049 RCV001111050 RCV001433646
NM_001844.5(COL2A1):c.156C>A (p.Cys52Ter)	SNV Germline	Chr12:48000055	Pathogenic/Likely pathogenic	Stickler syndrome type 1 Condition: not provided COL2A1-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_1246771678	4 SubmittersRCV000659383 RCV001387827 RCV004533444
NM_001852.4(COL9A2):c.458C>T (p.Pro153Leu)	SNV Germline	Chr1:40311675	Conflicting classifications of pathogenicity	Epiphyseal dysplasia, multiple, 2 Stickler syndrome, type 5 Epiphyseal dysplasia, multiple, 2 not specified Condition: not provided	Criteria Provided Conflicting Classifications		rs_77937237	6 SubmittersRCV000660517 RCV001099057 RCV001199907 RCV001369753
NM_001854.4(COL11A1):c.4396G>T (p.Glu1466Ter)	SNV Germline	Chr1:102889523	Pathogenic	Stickler syndrome type 2	Criteria Provided Single Submitter		rs_866783525	1 SubmittersRCV000679954
NM_001844.5(COL2A1):c.798G>A (p.Arg266=)	SNV Germline	Chr12:47994442	Conflicting classifications of pathogenicity	Condition: not provided Type II Collagenopathies Stickler syndrome type 1	Criteria Provided Conflicting Classifications		rs_376753701	4 SubmittersRCV000728040 RCV001112960 RCV001114314
NM_001844.5(COL2A1):c.4116C>T (p.Asn1372=)	SNV Germline	Chr12:47974290	Conflicting classifications of pathogenicity	Condition: not provided Stickler syndrome type 1 Type II Collagenopathies Connective tissue disorder	Criteria Provided Conflicting Classifications		rs_150237416	6 SubmittersRCV000729624 RCV001109851 RCV001109850 RCV002279503
NM_001851.6(COL9A1):c.1052C>A (p.Ser351Ter)	SNV Germline	Chr6:70274060	Likely pathogenic	Condition: not provided Stickler syndrome, type 4	Criteria Provided Multiple Submitters No Conflicts		rs_201035486	3 SubmittersRCV000733131 RCV003989592
NM_001844.5(COL2A1):c.2035A>T (p.Lys679Ter)	SNV Unknown	Chr12:47983399	Pathogenic	Stickler syndrome type 1	Criteria Provided Single Submitter		rs_1565679039	1 SubmittersRCV000735218
NM_001854.4(COL11A1):c.2972G>A (p.Gly991Asp)	SNV Germline	Chr1:102962705	Likely pathogenic	Stickler syndrome type 2	Criteria Provided Single Submitter		rs_1557877041	1 SubmittersRCV000761265
NM_001844.5(COL2A1):c.3136C>T (p.Pro1046Ser)	SNV Germline	Chr12:47977629	Likely pathogenic	Stickler syndrome, type I, nonsyndromic ocular	Criteria Provided Single Submitter		rs_751205887	1 SubmittersRCV000789039
NM_001854.4(COL11A1):c.1926A>G (p.Arg642=)	SNV Germline	Chr1:103004462	Conflicting classifications of pathogenicity	Condition: not provided Fibrochondrogenesis 1 Stickler syndrome type 2 COL11A1-related disorder	Criteria Provided Conflicting Classifications		rs_142506188	4 SubmittersRCV000841256 RCV001102044 RCV001102045 RCV004540139
NM_001854.4(COL11A1):c.456C>T (p.Pro152=)	SNV Germline	Chr1:103078690	Conflicting classifications of pathogenicity	Condition: not provided Fibrochondrogenesis 1 Stickler syndrome type 2 COL11A1-related disorder	Criteria Provided Conflicting Classifications		rs_751512442	5 SubmittersRCV000905879 RCV001102231 RCV001102232 RCV004541918
NM_001854.4(COL11A1):c.489-4T>A	SNV Germline	Chr1:103074784	Conflicting classifications of pathogenicity	Condition: not provided Stickler syndrome type 2 Fibrochondrogenesis 1	Criteria Provided Conflicting Classifications		rs_371357098	3 SubmittersRCV000903567 RCV001102227 RCV001102228
NM_001854.4(COL11A1):c.924A>G (p.Glu308=)	SNV Germline	Chr1:103025587	Conflicting classifications of pathogenicity	Condition: not provided Fibrochondrogenesis 1 Stickler syndrome type 2	Criteria Provided Conflicting Classifications		rs_1010235940	2 SubmittersRCV000911268 RCV001096733 RCV001096732
NM_001854.4(COL11A1):c.3978+1G>A	SNV Germline	Chr1:102914351	Conflicting classifications of pathogenicity	Fibrochondrogenesis 1 Stickler syndrome type 2	Criteria Provided Conflicting Classifications		rs_1570712889	2 SubmittersRCV000986390 RCV002290500
NM_001844.5(COL2A1):c.3013G>A (p.Gly1005Ser)	SNV Germline	Chr12:47978108	Pathogenic/Likely pathogenic	Stickler syndrome type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_753342774	2 SubmittersRCV000988820 RCV003558623
NM_001844.5(COL2A1):c.2679+1G>A	SNV Unknown	Chr12:47980008	Pathogenic	Stickler syndrome type 1	Criteria Provided Single Submitter		rs_1592205758	1 SubmittersRCV000988822
NM_001844.5(COL2A1):c.2596C>T (p.Gln866Ter)	SNV Unknown	Chr12:47980583	Likely pathogenic	Stickler syndrome type 1	Criteria Provided Single Submitter		rs_1592206729	1 SubmittersRCV000988823
NM_001844.5(COL2A1):c.1969G>A (p.Gly657Ser)	SNV Unknown	Chr12:47983709	Likely pathogenic	Stickler syndrome type 1	Criteria Provided Single Submitter		rs_1269619781	1 SubmittersRCV000988826
NM_001844.5(COL2A1):c.3598-1G>A	SNV Germline	Chr12:47975606	Pathogenic/Likely pathogenic	Stickler syndrome type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1592196867	2 SubmittersRCV000995717 RCV003708556
NM_001844.5(COL2A1):c.2659C>T (p.Arg887Ter)	SNV Germline	Chr12:47980029	Pathogenic/Likely pathogenic	Condition: not provided Stickler syndrome type 1	Criteria Provided Multiple Submitters No Conflicts		rs_1399676515	4 SubmittersRCV001008652 RCV002291290
NM_001844.5(COL2A1):c.2909C>T (p.Pro970Leu)	SNV Germline	Chr12:47978385	Conflicting classifications of pathogenicity	Condition: not provided Stickler syndrome type 1 Type II Collagenopathies Connective tissue disorder	Criteria Provided Conflicting Classifications		rs_371268468	4 SubmittersRCV001041428 RCV001114066 RCV001114067 RCV002276596
NM_001844.5(COL2A1):c.1833+1G>A	SNV Germline	Chr12:47984994	Pathogenic	Retinal dystrophy Condition: not provided Stickler syndrome type 1	Criteria Provided Multiple Submitters No Conflicts		rs_1939312423	4 SubmittersRCV001074728 RCV001387557 RCV002290588
NM_001854.4(COL11A1):c.5223G>C (p.Glu1741Asp)	SNV Germline	Chr1:102879734	Conflicting classifications of pathogenicity	Stickler syndrome type 2 Fibrochondrogenesis 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_370598483	2 SubmittersRCV001101562 RCV001101561 RCV003769069
NM_001854.4(COL11A1):c.5169G>A (p.Val1723=)	SNV Germline	Chr1:102879788	Conflicting classifications of pathogenicity	Fibrochondrogenesis 1 Stickler syndrome type 2 Condition: not provided	Criteria Provided Conflicting Classifications		rs_1649996140	2 SubmittersRCV001096133 RCV001096134 RCV002069624
NM_001854.4(COL11A1):c.2735C>T (p.Pro912Leu)	SNV Germline	Chr1:102978727	Conflicting classifications of pathogenicity	Stickler syndrome type 2 Fibrochondrogenesis 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_192842970	5 SubmittersRCV001101958 RCV001101959 RCV001664688
NM_001854.4(COL11A1):c.2453G>A (p.Arg818Gln)	SNV Germline	Chr1:102987682	Conflicting classifications of pathogenicity	Fibrochondrogenesis 1 Stickler syndrome type 2 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_142523692	4 SubmittersRCV001096540 RCV001096541 RCV001351829 RCV004032009
NM_001854.4(COL11A1):c.1817C>T (p.Pro606Leu)	SNV Germline	Chr1:103005866	Conflicting classifications of pathogenicity	Stickler syndrome type 2 Fibrochondrogenesis 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_534777436	3 SubmittersRCV001096646 RCV001096647 RCV001760069
NM_001854.4(COL11A1):c.1408G>C (p.Asp470His)	SNV Germline	Chr1:103017825	Conflicting classifications of pathogenicity	Condition: not provided Stickler syndrome type 2 Fibrochondrogenesis 1	Criteria Provided Conflicting Classifications		rs_752749747	3 SubmittersRCV001760072 RCV001098375 RCV001098376
NM_001854.4(COL11A1):c.1341A>G (p.Ala447=)	SNV Germline	Chr1:103018827	Conflicting classifications of pathogenicity	Stickler syndrome type 2 Fibrochondrogenesis 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_372963982	2 SubmittersRCV001100161 RCV001100160 RCV002069686
NM_001854.4(COL11A1):c.1263A>G (p.Ala421=)	SNV Germline	Chr1:103021752	Conflicting classifications of pathogenicity	Fibrochondrogenesis 1 Stickler syndrome type 2 Condition: not provided	Criteria Provided Conflicting Classifications		rs_760330151	3 SubmittersRCV001100162 RCV001100163 RCV001732043
NM_001854.4(COL11A1):c.871A>G (p.Thr291Ala)	SNV Germline	Chr1:103026242	Conflicting classifications of pathogenicity	Fibrochondrogenesis 1 Stickler syndrome type 2 Condition: not provided	Criteria Provided Conflicting Classifications		rs_778869762	2 SubmittersRCV001096734 RCV001098473 RCV001873470
NM_001854.4(COL11A1):c.511G>A (p.Val171Met)	SNV Germline	Chr1:103074758	Conflicting classifications of pathogenicity	Fibrochondrogenesis 1 Condition: not provided Stickler syndrome type 2	Criteria Provided Conflicting Classifications		rs_751182532	3 SubmittersRCV001100245 RCV001759867 RCV001100246
NM_001854.4(COL11A1):c.478G>A (p.Ala160Thr)	SNV Germline	Chr1:103078668	Conflicting classifications of pathogenicity	Fibrochondrogenesis 1 Stickler syndrome type 2 Condition: not provided	Criteria Provided Conflicting Classifications		rs_146954848	4 SubmittersRCV001102229 RCV001102230 RCV001326440
NM_001854.4(COL11A1):c.174G>A (p.Thr58=)	SNV Germline	Chr1:103082905	Conflicting classifications of pathogenicity	Fibrochondrogenesis 1 Stickler syndrome type 2 Condition: not provided	Criteria Provided Conflicting Classifications		rs_530441485	2 SubmittersRCV001098583 RCV001098584 RCV003769054
NM_001854.4(COL11A1):c.3384+13T>G	SNV Germline	Chr1:102940314	Conflicting classifications of pathogenicity	Stickler syndrome type 2 Fibrochondrogenesis 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_201970483	3 SubmittersRCV001101860 RCV001101861 RCV001518054
NM_001854.4(COL11A1):c.2394+8T>C	SNV Germline	Chr1:102989510	Conflicting classifications of pathogenicity	Stickler syndrome type 2 Fibrochondrogenesis 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_1322783114	2 SubmittersRCV001096544 RCV001098281 RCV003736974
NM_001854.4(COL11A1):c.1845+11T>G	SNV Germline	Chr1:103005827	Conflicting classifications of pathogenicity	Stickler syndrome type 2 Fibrochondrogenesis 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_201513205	2 SubmittersRCV001096644 RCV001096645 RCV002554899
NM_001854.4(COL11A1):c.652-13T>G	SNV Germline	Chr1:103031257	Conflicting classifications of pathogenicity	Fibrochondrogenesis 1 Stickler syndrome type 2 Condition: not provided COL11A1-related disorder	Criteria Provided Conflicting Classifications		rs_776608546	3 SubmittersRCV001100243 RCV001100242 RCV001404907 RCV004545060
NM_001844.5(COL2A1):c.4448C>T (p.Pro1483Leu)	SNV Germline	Chr12:47973423	Conflicting classifications of pathogenicity	Type II Collagenopathies Stickler syndrome type 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_376442872	3 SubmittersRCV001110554 RCV001112534 RCV001772326
NM_001844.5(COL2A1):c.4350C>T (p.Ile1450=)	SNV Germline	Chr12:47973521	Conflicting classifications of pathogenicity	Stickler syndrome type 1 Type II Collagenopathies Condition: not provided COL2A1-related disorder	Criteria Provided Conflicting Classifications		rs_137948104	5 SubmittersRCV001112536 RCV001112535 RCV001410869 RCV004538334
NM_001844.5(COL2A1):c.4093A>T (p.Asn1365Tyr)	SNV Germline	Chr12:47974313	Conflicting classifications of pathogenicity	Type II Collagenopathies Stickler syndrome type 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_202105427	2 SubmittersRCV001109855 RCV001109854 RCV001245820
NM_001844.5(COL2A1):c.3713A>C (p.Tyr1238Ser)	SNV Germline	Chr12:47975490	Conflicting classifications of pathogenicity	Stickler syndrome type 1 Type II Collagenopathies Condition: not provided Connective tissue disorder	Criteria Provided Conflicting Classifications		rs_199726428	3 SubmittersRCV001113969 RCV001113970 RCV001320848 RCV002276626
NM_001844.5(COL2A1):c.3663C>T (p.Ser1221=)	SNV Germline	Chr12:47975540	Conflicting classifications of pathogenicity	Stickler syndrome type 1 Type II Collagenopathies Condition: not provided	Criteria Provided Conflicting Classifications		rs_2276459	2 SubmittersRCV001113971 RCV001113972 RCV001517493
NM_001844.5(COL2A1):c.3505G>A (p.Val1169Ile)	SNV Germline	Chr12:47976055	Conflicting classifications of pathogenicity	Type II Collagenopathies Stickler syndrome type 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_760390497	3 SubmittersRCV001109930 RCV001109931 RCV001337220
NM_001844.5(COL2A1):c.3308C>G (p.Ala1103Gly)	SNV Germline	Chr12:47977121	Conflicting classifications of pathogenicity	Stickler syndrome type 1 Type II Collagenopathies Intellectual disability Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_1180226091	4 SubmittersRCV001110723 RCV001110722 RCV001251955 RCV002556166 RCV002555076
NM_001844.5(COL2A1):c.2805C>T (p.Ser935=)	SNV Germline	Chr12:47978687	Conflicting classifications of pathogenicity	Stickler syndrome type 1 Type II Collagenopathies Condition: not provided	Criteria Provided Conflicting Classifications		rs_948633441	2 SubmittersRCV001110026 RCV001110027 RCV001413346
NM_001844.5(COL2A1):c.1138A>G (p.Thr380Ala)	SNV Germline	Chr12:47987694	Conflicting classifications of pathogenicity	Type II Collagenopathies Stickler syndrome type 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_748511528	2 SubmittersRCV001110955 RCV001110954 RCV003727861
NM_001844.5(COL2A1):c.778C>T (p.Pro260Ser)	SNV Germline	Chr12:47994462	Conflicting classifications of pathogenicity	Stickler syndrome type 1 Type II Collagenopathies Condition: not provided	Criteria Provided Conflicting Classifications		rs_1470645150	2 SubmittersRCV001114316 RCV001114315 RCV003679035
NM_001844.5(COL2A1):c.711T>A (p.Gly237=)	SNV Germline	Chr12:47995306	Conflicting classifications of pathogenicity	Stickler syndrome type 1 Type II Collagenopathies Condition: not provided	Criteria Provided Conflicting Classifications		rs_764487245	2 SubmittersRCV001114317 RCV001114318 RCV002556237
NM_001844.5(COL2A1):c.4074+12G>T	SNV Germline	Chr12:47974663	Conflicting classifications of pathogenicity	Stickler syndrome type 1 Type II Collagenopathies Condition: not provided	Criteria Provided Conflicting Classifications		rs_201312340	3 SubmittersRCV001110643 RCV001110644 RCV001811662
NM_001844.5(COL2A1):c.2410-13T>G	SNV Germline	Chr12:47981409	Conflicting classifications of pathogenicity	Stickler syndrome type 1 Type II Collagenopathies Condition: not provided	Criteria Provided Conflicting Classifications		rs_574507277	2 SubmittersRCV001112797 RCV001112798 RCV002069818
NM_001844.5(COL2A1):c.708+14C>T	SNV Germline	Chr12:47995696	Conflicting classifications of pathogenicity	Type II Collagenopathies Stickler syndrome type 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_769173275	2 SubmittersRCV001110296 RCV001110295 RCV001415618
NM_001854.4(COL11A1):c.3115G>A (p.Gly1039Ser)	SNV Unknown	Chr1:102961919	Likely pathogenic	Stickler syndrome type 2 Marshall syndrome	Criteria Provided Single Submitter		rs_764282256	1 SubmittersRCV001257086
NM_001851.6(COL9A1):c.352C>T (p.Arg118Ter)	SNV Germline	Chr6:70294511	Conflicting classifications of pathogenicity	Stickler syndrome, type 4 Condition: not provided	Criteria Provided Conflicting Classifications		rs_147237457	2 SubmittersRCV001196482 RCV001876273
NM_001854.4(COL11A1):c.281C>T (p.Thr94Ile)	SNV Germline	Chr1:103078865	Conflicting classifications of pathogenicity	Marshall syndrome Stickler syndrome type 2 Fibrochondrogenesis 1 Condition: not provided COL11A1-related disorder	Criteria Provided Conflicting Classifications		rs_1283924469	5 SubmittersRCV001249437 RCV001587283 RCV004528439
NM_001854.4(COL11A1):c.1168G>T (p.Glu390Ter)	SNV Germline	Chr1:103022819	Likely pathogenic	Stickler syndrome type 2 Marshall syndrome Fibrochondrogenesis 1	Criteria Provided Single Submitter		rs_1667208458	1 SubmittersRCV001249607
NM_001844.5(COL2A1):c.2862C>T (p.Gly954=)	SNV Germline	Chr12:47978630	Pathogenic/Likely pathogenic	Stickler syndrome type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_367806541	8 SubmittersRCV002294450 RCV001269946
NM_001844.5(COL2A1):c.2059G>A (p.Gly687Ser)	SNV Germline	Chr12:47983128	Pathogenic/Likely pathogenic	Condition: not provided Spondyloepiphyseal dysplasia with metatarsal shortening Stickler syndrome type 1	Criteria Provided Multiple Submitters No Conflicts		rs_1939189846	6 SubmittersRCV001270004 RCV001332046 RCV003989668
NM_001854.4(COL11A1):c.1684-1G>C	SNV Unknown	Chr1:103006316	Likely pathogenic	Stickler syndrome type 2	Criteria Provided Single Submitter		rs_1665610030	1 SubmittersRCV001330656
NM_001854.4(COL11A1):c.1245+1G>A	SNV Germline	Chr1:103022741	Pathogenic/Likely pathogenic	Condition: not provided Intervertebral disc disorder Fibrochondrogenesis 1 Marshall syndrome Hearing loss, autosomal dominant 37 Stickler syndrome type 2	Criteria Provided Multiple Submitters No Conflicts		rs_766849561	4 SubmittersRCV001780801 RCV002503269
NM_001844.5(COL2A1):c.2050G>T (p.Gly684Cys)	SNV Germline	Chr12:47983137	Conflicting classifications of pathogenicity	Stickler syndrome type 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_1231988113	2 SubmittersRCV001333975 RCV002546662
NM_001854.4(COL11A1):c.3692G>T (p.Gly1231Val)	SNV Germline	Chr1:102921534	Conflicting classifications of pathogenicity	Condition: not provided Fibrochondrogenesis 1 Marshall syndrome Stickler syndrome type 2 Hearing loss, autosomal dominant 37 Intervertebral disc disorder	Criteria Provided Conflicting Classifications		rs_750291363	3 SubmittersRCV001341960 RCV001535998
NM_001852.4(COL9A2):c.1510C>T (p.Arg504Ter)	SNV Germline	Chr1:40303568	Pathogenic/Likely pathogenic	Stickler syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_781682527	2 SubmittersRCV001375166 RCV003771213
NM_001844.5(COL2A1):c.1364C>T (p.Thr455Met)	SNV Germline	Chr12:47987079	Conflicting classifications of pathogenicity	Stickler syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_775754967	4 SubmittersRCV001375161 RCV001568263
NM_001384474.1(LOXHD1):c.2308G>A (p.Val770Ile)	SNV Germline	Chr18:46566386	Conflicting classifications of pathogenicity	Stickler syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_754651566	3 SubmittersRCV001375237 RCV002070248 RCV002550209
NM_001844.5(COL2A1):c.2806G>A (p.Gly936Ser)	SNV Germline	Chr12:47978686	Conflicting classifications of pathogenicity	Condition: not provided Stickler syndrome type 1	Criteria Provided Conflicting Classifications		rs_777615798	2 SubmittersRCV001377044 RCV002286578
NM_001844.5(COL2A1):c.3490G>A (p.Gly1164Ser)	SNV Germline	Chr12:47976070	Pathogenic	Condition: not provided Stickler syndrome type 1	Criteria Provided Multiple Submitters No Conflicts		rs_2136514646	2 SubmittersRCV001382420 RCV002246366
NM_001844.5(COL2A1):c.2094+1G>C	SNV Germline	Chr12:47983092	Pathogenic	Condition: not provided Stickler syndrome type 1	Criteria Provided Multiple Submitters No Conflicts		rs_2136552560	2 SubmittersRCV001385790 RCV003493854
NM_001854.4(COL11A1):c.4186G>T (p.Gly1396Cys)	SNV Unknown	Chr1:102898728	Likely pathogenic	Intervertebral disc disorder Stickler syndrome type 2 Hearing loss, autosomal dominant 37 Fibrochondrogenesis 1 Marshall syndrome	Criteria Provided Single Submitter		rs_763199410	1 SubmittersRCV001535915
NM_001854.4(COL11A1):c.2755-2A>G	SNV Germline	Chr1:102974885	Pathogenic	Stickler syndrome type 2 Condition: not provided	Criteria Provided Single Submitter		rs_2101653580	2 SubmittersRCV001542538 RCV001581183
NM_001844.5(COL2A1):c.2464G>A (p.Gly822Ser)	SNV Germline	Chr12:47980968	Likely pathogenic	Stickler syndrome type 1	Criteria Provided Single Submitter		rs_2136539942	1 SubmittersRCV001564047
NM_001844.5(COL2A1):c.1826G>T (p.Gly609Val)	SNV Germline	Chr12:47985002	Likely pathogenic	Stickler syndrome type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_140580674	2 SubmittersRCV001564048 RCV001865988
NM_001854.4(COL11A1):c.3068C>A (p.Ala1023Glu)	SNV Germline	Chr1:102962222	Conflicting classifications of pathogenicity	Condition: not provided Marshall syndrome Intervertebral disc disorder Stickler syndrome type 2 Fibrochondrogenesis 1 Hearing loss, autosomal dominant 37 COL11A1-related disorder	Criteria Provided Conflicting Classifications		rs_1040168773	4 SubmittersRCV001574783 RCV002495920 RCV004536209
NM_001844.5(COL2A1):c.3896G>A (p.Trp1299Ter)	SNV Germline	Chr12:47974853	Pathogenic	Stickler syndrome type 1 Condition: not provided COL2A1-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_2136508909	3 SubmittersRCV001591924 RCV003234087 RCV004528523
NM_001854.4(COL11A1):c.2513G>A (p.Gly838Glu)	SNV Germline	Chr1:102984181	Pathogenic/Likely pathogenic	Condition: not provided Hearing loss, autosomal dominant 37 Marshall syndrome Stickler syndrome type 2 Fibrochondrogenesis 1	Criteria Provided Multiple Submitters No Conflicts		rs_372419698	3 SubmittersRCV001587154 RCV001825009
NM_001844.5(COL2A1):c.1887+1G>A	SNV Germline	Chr12:47984545	Pathogenic	Stickler syndrome type 1	Criteria Provided Single Submitter		rs_2136561510	1 SubmittersRCV001731124
NM_001854.4(COL11A1):c.2644C>T (p.Arg882Cys)	SNV Germline	Chr1:102979071	Conflicting classifications of pathogenicity	Condition: not provided Marshall syndrome Stickler syndrome type 2 Fibrochondrogenesis 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_749003514	4 SubmittersRCV001733091 RCV002508964 RCV004040036
NM_001844.5(COL2A1):c.4317+1G>T	SNV Germline	Chr12:47974088	Pathogenic	Stickler syndrome type 1	Criteria Provided Single Submitter		rs_2136504667	1 SubmittersRCV001787272
NM_001844.5(COL2A1):c.4074+1G>A	SNV Germline	Chr12:47974674	Pathogenic	Stickler syndrome type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_2136507956	2 SubmittersRCV001787274 RCV002541256
NM_001844.5(COL2A1):c.3280C>T (p.Gln1094Ter)	SNV Germline	Chr12:47977149	Pathogenic	Stickler syndrome type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_2136520087	3 SubmittersRCV001814855 RCV001869629
NM_001854.4(COL11A1):c.2285G>A (p.Arg762Gln)	SNV Germline	Chr1:102995999	Conflicting classifications of pathogenicity	Condition: not provided Fibrochondrogenesis 1 Intervertebral disc disorder Marshall syndrome Hearing loss, autosomal dominant 37 Stickler syndrome type 2	Criteria Provided Conflicting Classifications		rs_758825857	3 SubmittersRCV001878497 RCV002478131
NM_001851.6(COL9A1):c.14G>A (p.Trp5Ter)	SNV Germline	Chr6:70302911	Pathogenic	Condition: not provided Stickler syndrome, type 4 Epiphyseal dysplasia, multiple, 6	Criteria Provided Multiple Submitters No Conflicts		rs_770789859	2 SubmittersRCV001878070 RCV002482695
NM_001854.4(COL11A1):c.4709T>C (p.Leu1570Pro)	SNV Germline	Chr1:102886956	Conflicting classifications of pathogenicity	Condition: not provided Intervertebral disc disorder Stickler syndrome type 2 Hearing loss, autosomal dominant 37 Fibrochondrogenesis 1 Marshall syndrome COL11A1-related disorder	Criteria Provided Conflicting Classifications		rs_558265763	4 SubmittersRCV001940346 RCV002491900 RCV004538616
NM_001854.4(COL11A1):c.3276+5G>A	SNV Germline	Chr1:102946844	Conflicting classifications of pathogenicity	Condition: not provided Stickler syndrome type 2	Criteria Provided Conflicting Classifications		rs_2101406246	3 SubmittersRCV002045357 RCV003453951
NM_001844.5(COL2A1):c.1513C>T (p.Pro505Ser)	SNV Germline	Chr12:47986350	Conflicting classifications of pathogenicity	Condition: not provided Stickler syndrome type 1 Spondyloepiphyseal dysplasia congenita	Criteria Provided Conflicting Classifications		rs_865903887	3 SubmittersRCV001945651 RCV003339826 RCV003444066
NM_001844.5(COL2A1):c.2609G>A (p.Gly870Glu)	SNV Germline	Chr12:47980570	Pathogenic/Likely pathogenic	Condition: not provided Stickler syndrome type 1	Criteria Provided Multiple Submitters No Conflicts		rs_886041429	2 SubmittersRCV002003098 RCV002246638
NM_001844.5(COL2A1):c.3436-1G>A	SNV Germline	Chr12:47976568	Pathogenic/Likely pathogenic	Condition: not provided Stickler syndrome type 1	Criteria Provided Multiple Submitters No Conflicts		rs_2136516942	2 SubmittersRCV002023134 RCV004565180
NM_001844.5(COL2A1):c.1258G>T (p.Gly420Ter)	SNV Germline	Chr12:47987277	Pathogenic	Stickler syndrome type 1	Criteria Provided Single Submitter			1 SubmittersRCV002471749
NM_001853.4(COL9A3):c.268C>T (p.Arg90Ter)	SNV Germline	Chr20:62819941	Pathogenic	Stickler syndrome Stickler syndrome, IIa 6 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_763259234	3 SubmittersRCV002238720 RCV002279980 RCV003093927
NM_001853.4(COL9A3):c.1729C>T (p.Arg577Ter)	SNV Germline	Chr20:62837208	Pathogenic/Likely pathogenic	Stickler syndrome Stickler syndrome, IIa 6 Epiphyseal dysplasia, multiple, 3 Intervertebral disc disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1201247953	5 SubmittersRCV002238721 RCV002279981 RCV002502051 RCV003093928
NM_001844.5(COL2A1):c.2519G>A (p.Gly840Asp)	SNV Germline	Chr12:47980660	Likely pathogenic	Stickler syndrome type 1	Criteria Provided Single Submitter		rs_2136538046	1 SubmittersRCV002249000
NM_001844.5(COL2A1):c.1646G>A (p.Gly549Asp)	SNV Germline	Chr12:47985762	Likely pathogenic	Stickler syndrome type 1	Criteria Provided Single Submitter		rs_2136567807	1 SubmittersRCV002249002
NM_001844.5(COL2A1):c.1484G>A (p.Gly495Glu)	SNV Germline	Chr12:47986379	Likely pathogenic	Stickler syndrome type 1	Criteria Provided Single Submitter		rs_2136571080	1 SubmittersRCV002249003
NM_001844.5(COL2A1):c.4171T>C (p.Tyr1391His)	SNV Germline	Chr12:47974235	Pathogenic	Stickler syndrome type 1	Criteria Provided Single Submitter		rs_2136505595	1 SubmittersRCV002249377
NM_001844.5(COL2A1):c.1492G>C (p.Gly498Arg)	SNV Germline	Chr12:47986371	Pathogenic	Stickler syndrome type 1	Criteria Provided Single Submitter		rs_2136571005	1 SubmittersRCV002249379
NM_001844.5(COL2A1):c.737G>T (p.Gly246Val)	SNV Germline	Chr12:47995280	Pathogenic	Stickler syndrome type 1	Criteria Provided Single Submitter		rs_2136616311	1 SubmittersRCV002249380
NM_001854.4(COL11A1):c.2916+1G>A	SNV Germline	Chr1:102965486	Pathogenic/Likely pathogenic	Stickler syndrome type 2 Condition: not provided COL11A1-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_2101595036	3 SubmittersRCV002250987 RCV003094077 RCV004533996
NM_001854.4(COL11A1):c.3276+1G>C	SNV Germline	Chr1:102946848	Likely pathogenic	Stickler syndrome type 2	Criteria Provided Single Submitter		rs_2101406339	1 SubmittersRCV002272626
NM_001853.4(COL9A3):c.1204C>T (p.Arg402Ter)	SNV Germline	Chr20:62830402	Pathogenic	Stickler syndrome, IIa 6 Condition: not provided	Criteria Provided Single Submitter			2 SubmittersRCV002280060 RCV003774919
NM_001844.5(COL2A1):c.610-2A>T	SNV Germline	Chr12:47995921	Likely pathogenic	Stickler syndrome type 1	Criteria Provided Single Submitter			1 SubmittersRCV002283666
NM_001844.5(COL2A1):c.2895+1G>C	SNV Germline	Chr12:47978596	Pathogenic	Stickler syndrome type 1	Criteria Provided Single Submitter			1 SubmittersRCV002286619
NM_001854.4(COL11A1):c.1676G>A (p.Gly559Asp)	SNV Germline	Chr1:103008470	Conflicting classifications of pathogenicity	Stickler syndrome type 2 COL11A1-related disorder	Criteria Provided Conflicting Classifications			2 SubmittersRCV002288378 RCV004529122
NM_001844.5(COL2A1):c.1966C>T (p.Gln656Ter)	SNV Germline	Chr12:47983712	Likely pathogenic	Stickler syndrome type 1	Criteria Provided Single Submitter			1 SubmittersRCV002290174
NM_001844.5(COL2A1):c.429+2T>G	SNV Germline	Chr12:47997869	Likely pathogenic	Stickler syndrome type 1	Criteria Provided Single Submitter			1 SubmittersRCV002290202
NM_001844.5(COL2A1):c.388G>T (p.Glu130Ter)	SNV Germline	Chr12:47997912	Likely pathogenic	Stickler syndrome type 1	Criteria Provided Single Submitter			1 SubmittersRCV002290288
NM_001844.5(COL2A1):c.293-2A>T	SNV Germline	Chr12:47998433	Likely pathogenic	Stickler syndrome type 1	No Assertion Criteria Provided			1 SubmittersRCV002291186
NM_001844.5(COL2A1):c.1420-1G>A	SNV Germline	Chr12:47986444	Pathogenic	Stickler syndrome, type I, nonsyndromic ocular Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002466863 RCV002571405
NM_001844.5(COL2A1):c.1396G>T (p.Glu466Ter)	SNV Germline	Chr12:47986858	Pathogenic	Stickler syndrome type 1	Criteria Provided Single Submitter			1 SubmittersRCV002471635
NM_001844.5(COL2A1):c.925-1G>A	SNV Germline	Chr12:47993503	Pathogenic	Stickler syndrome type 1	Criteria Provided Single Submitter			1 SubmittersRCV002471691
NM_001844.5(COL2A1):c.2625+2T>C	SNV Germline	Chr12:47980552	Likely pathogenic	Stickler syndrome type 1	Criteria Provided Single Submitter			1 SubmittersRCV002471804
NM_001844.5(COL2A1):c.565G>T (p.Glu189Ter)	SNV Germline	Chr12:47996592	Pathogenic	Stickler syndrome, type I, nonsyndromic ocular	Criteria Provided Single Submitter			1 SubmittersRCV002471956
NM_001844.5(COL2A1):c.1527+1G>A	SNV Germline	Chr12:47986335	Likely pathogenic	Stickler syndrome, type I, nonsyndromic ocular	Criteria Provided Single Submitter			1 SubmittersRCV002472045
NM_001844.5(COL2A1):c.661C>T (p.Gln221Ter)	SNV Germline	Chr12:47995757	Conflicting classifications of pathogenicity	Condition: not provided Stickler syndrome type 1	Criteria Provided Conflicting Classifications			2 SubmittersRCV002862651 RCV003151422
NM_001844.5(COL2A1):c.2158G>A (p.Gly720Ser)	SNV Germline	Chr12:47982883	Conflicting classifications of pathogenicity	Condition: not provided Stickler syndrome type 1	Criteria Provided Conflicting Classifications			2 SubmittersRCV003050291 RCV003989800
NM_001854.4(COL11A1):c.3512G>A (p.Gly1171Asp)	SNV Germline	Chr1:102934537	Likely pathogenic	Stickler syndrome type 2	Criteria Provided Single Submitter			1 SubmittersRCV003330334
NM_001844.5(COL2A1):c.655-2A>G	SNV Germline	Chr12:47995765	Pathogenic	Stickler syndrome type 1	No Assertion Criteria Provided			1 SubmittersRCV003388641
NM_001851.6(COL9A1):c.1450-1G>T	SNV Germline	Chr6:70256822	Likely pathogenic	Stickler syndrome, type 4	Criteria Provided Single Submitter			1 SubmittersRCV003447689
NM_001854.4(COL11A1):c.3762+2T>C	SNV Unknown	Chr1:102920309	Likely pathogenic	Stickler syndrome type 2	Criteria Provided Single Submitter			1 SubmittersRCV003482200
NM_001854.4(COL11A1):c.2702G>A (p.Gly901Glu)	SNV Germline	Chr1:102978867	Likely pathogenic	Stickler syndrome type 2	Criteria Provided Single Submitter			1 SubmittersRCV003988754
NM_001844.5(COL2A1):c.1527+1G>C	SNV Germline	Chr12:47986335	Likely pathogenic	Stickler syndrome type 1	Criteria Provided Single Submitter			1 SubmittersRCV003994720
NM_001854.4(COL11A1):c.1951C>T (p.Arg651Ter)	SNV Germline	Chr1:103003262	Likely pathogenic	Marshall syndrome Stickler syndrome type 2	Criteria Provided Single Submitter			1 SubmittersRCV004556009

NM_001854.4(COL11A1):c.1874G>T (p.Gly625Val)

SNV
Germline

Chr1:103004633

Pathogenic

Stickler syndrome type 2

No Assertion Criteria Provided

CA281694

rs_121912943

1 SubmittersRCV000018669

NM_001854.4(COL11A1):c.2927G>T (p.Gly976Val)

SNV
Germline

Chr1:102962750

Pathogenic

Marshall/Stickler syndrome

No Assertion Criteria Provided

CA281061

rs_121912944

1 SubmittersRCV000018671

NM_001851.6(COL9A1):c.883C>T (p.Arg295Ter)

SNV
Germline

Chr6:70281033

Pathogenic

Stickler syndrome, type 4
See cases

Criteria Provided
Single Submitter

CA341439

rs_121912931

3 SubmittersRCV000018735 RCV001420255

NM_001844.5(COL2A1):c.2794C>T (p.Arg932Ter)

SNV
Germline

Chr12:47978698

Pathogenic

Stickler syndrome type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA281739

rs_121912866

4 SubmittersRCV000018899 RCV000726311

NM_001844.5(COL2A1):c.625C>T (p.Arg209Ter)

SNV
Germline

Chr12:47995904

Pathogenic

Stickler syndrome type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA281742

rs_121912869

3 SubmittersRCV000018904 RCV000579130

NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser)

SNV
Germline

Chr12:47975971

Pathogenic/Likely pathogenic

Spondyloepiphyseal dysplasia congenita
Condition: not provided
Stickler syndrome type 1
Namaqualand hip dysplasia
Spondyloperipheral dysplasia
Type 2 collagenopathy
Spondyloepimetaphyseal dysplasia, Strudwick type
Connective tissue disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA250671

rs_121912870

13 SubmittersRCV000018905 RCV000484896 RCV002247358 RCV002272023 RCV003152666 RCV003320353 RCV001729352 RCV002276564

NM_001844.5(COL2A1):c.800G>A (p.Gly267Asp)

SNV
Germline

Chr12:47994440

Pathogenic

Stickler syndrome, type I, nonsyndromic ocular

No Assertion Criteria Provided

CA127156

rs_121912872

1 SubmittersRCV000018908

NM_001844.5(COL2A1):c.823C>T (p.Arg275Cys)

SNV
Germline

Chr12:47994041

Pathogenic

Spondyloepiphyseal dysplasia with metatarsal shortening
Condition: not provided
Stickler syndrome type 1
Acetabular dysplasia
Achondrogenesis type II

Criteria Provided
Multiple Submitters
No Conflicts

CA127158

rs_121912876

8 SubmittersRCV000018912 RCV001385337 RCV000988828 RCV003228897 RCV003323361

NM_001844.5(COL2A1):c.1420-2A>G

SNV
Germline

Chr12:47986445

Pathogenic

Kniest dysplasia
Stickler syndrome type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_794727377

3 SubmittersRCV000018913 RCV002247359 RCV002513112

NM_001844.5(COL2A1):c.1222-2A>G

SNV
Germline

Chr12:47987315

Pathogenic

Stickler syndrome type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2136577259

3 SubmittersRCV000018917 RCV002513113

NM_001844.5(COL2A1):c.1680+1G>A

SNV
Germline

Chr12:47985727

Pathogenic

Stickler syndrome type 1
Condition: not provided

Criteria Provided
Single Submitter

rs_1057524696

2 SubmittersRCV000018925 RCV001851925

NM_001844.5(COL2A1):c.1693C>T (p.Arg565Cys)

SNV
Germline

Chr12:47985575

Pathogenic/Likely pathogenic

Stickler syndrome type 1
Condition: not provided
Retinal dystrophy
Achondrogenesis type II
Stickler syndrome, type I, nonsyndromic ocular
COL2A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA281746

rs_121912884

11 SubmittersRCV000018926 RCV000413561 RCV001074673 RCV001197973 RCV001807733 RCV004528123

NM_001844.5(COL2A1):c.1999C>T (p.Leu667Phe)

SNV
Germline

Chr12:47983435

Pathogenic

Stickler syndrome, type I, nonsyndromic ocular
Stickler syndrome type 1

No Assertion Criteria Provided

CA127165

rs_121912885

2 SubmittersRCV000018927 RCV000144727

NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter)

SNV
Germline

Chr12:47983721

Pathogenic

Stickler syndrome type 1
Autosomal dominant rhegmatogenous retinal detachment
Condition: not provided
14 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA127176

rs_121912893

7 SubmittersRCV000018938 RCV000018939 RCV000481275 RCV000762896

NM_001844.5(COL2A1):c.709-2A>G

SNV
Germline

Chr12:47995310

Pathogenic

Stickler syndrome type 1

No Assertion Criteria Provided

rs_1592232116

1 SubmittersRCV000018942

NM_001844.5(COL2A1):c.3886+2T>C

SNV
Germline

Chr12:47975315

Pathogenic

Stickler syndrome, type I, nonsyndromic ocular

No Assertion Criteria Provided

rs_1592196064

1 SubmittersRCV000018943

NM_001844.5(COL2A1):c.141G>A (p.Trp47Ter)

SNV
Germline

Chr12:48000070

Pathogenic

Stickler syndrome, type I, nonsyndromic ocular

No Assertion Criteria Provided

CA127181

rs_121912896

1 SubmittersRCV000018944

NM_001844.5(COL2A1):c.192C>A (p.Cys64Ter)

SNV
Germline

Chr12:48000019

Pathogenic

Stickler syndrome, type I, nonsyndromic ocular
Condition: not provided
Stickler syndrome type 1
COL2A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA127183

rs_121912897

7 SubmittersRCV000018945 RCV000657640 RCV002470714 RCV004532390

NM_001844.5(COL2A1):c.170G>A (p.Cys57Tyr)

SNV
Germline

Chr12:48000041

Pathogenic

Stickler syndrome, type I, nonsyndromic ocular

No Assertion Criteria Provided

CA127185

rs_121912898

1 SubmittersRCV000018946

NM_001854.4(COL11A1):c.3816+1G>A

SNV
Germline

Chr1:102915630

Pathogenic

Marshall syndrome
Condition: not provided
Inborn genetic diseases
Stickler syndrome type 2
COL11A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA281108

rs_398122828

9 SubmittersRCV000032995 RCV000579344 RCV000623510 RCV002468558 RCV003313929

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

SNV
Germline

Chr6:33178970

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA138614

rs_145499142

12 SubmittersRCV000039826 RCV000268570 RCV000305029 RCV000319689 RCV000359665 RCV000659336 RCV000709864

NM_001844.5(COL2A1):c.4064G>A (p.Gly1355Asp)

SNV
Germline

Chr12:47974685

Conflicting classifications of pathogenicity

Condition: not provided
Type II Collagenopathies
Stickler syndrome type 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA221742

rs_201646745

5 SubmittersRCV000079727 RCV000378068 RCV000283561 RCV003242977

NM_001854.4(COL11A1):c.215C>G (p.Thr72Ser)

SNV
Germline

Chr1:103082864

Conflicting classifications of pathogenicity

Stickler syndrome type 2
Fibrochondrogenesis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA221845

rs_56230601

4 SubmittersRCV000269415 RCV000329141 RCV000079907

NM_001851.6(COL9A1):c.1519C>T (p.Arg507Ter)

SNV
Germline

Chr6:70255375

Pathogenic

Stickler syndrome, type 4
Condition: not provided
Connective tissue disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA273005

rs_189754995

3 SubmittersRCV000148951 RCV001382407 RCV002277296

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

SNV
Germline

Chr6:33165616

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA175557

rs_34055850

8 SubmittersRCV000150347 RCV000274971 RCV000299642 RCV000367094 RCV000404657 RCV001521033

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

SNV
Germline

Chr6:33168547

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA183082

rs_727504460

6 SubmittersRCV000155584 RCV000261111 RCV000301208 RCV000353712 RCV000368741 RCV000477787 RCV001651028 RCV003907479

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

SNV
Germline

Chr6:33170067

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA182113

rs_147576338

7 SubmittersRCV000155069 RCV000338212 RCV000278452 RCV000332238 RCV000372982 RCV000731331 RCV003945231

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

SNV
Germline

Chr6:33170332

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA182115

rs_138380958

8 SubmittersRCV000155070 RCV000261044 RCV000369862 RCV000330030 RCV000375471 RCV000680466 RCV001409061

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

SNV
Germline

Chr6:33180330

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA175571

rs_549704545

4 SubmittersRCV000150355 RCV000263155 RCV000299559 RCV000333620 RCV000354391 RCV001552633

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

SNV
Germline

Chr6:33164337

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA182105

rs_146555195

11 SubmittersRCV000155065 RCV000277747 RCV000326882 RCV000271332 RCV000427587 RCV000381519 RCV000680464 RCV001804866

NM_001854.4(COL11A1):c.4032G>A (p.Pro1344=)

SNV
Germline

Chr1:102913637

Conflicting classifications of pathogenicity

Fibrochondrogenesis 1
Stickler syndrome type 2
Connective tissue disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA233798

rs_147637674

6 SubmittersRCV000313074 RCV000349030 RCV000680458 RCV000723756

NM_001852.4(COL9A2):c.1576G>A (p.Val526Met)

SNV
Germline

Chr1:40303158

Conflicting classifications of pathogenicity

Condition: not provided
Stickler syndrome, type 5

Criteria Provided
Conflicting Classifications

CA243036

rs_141556170

4 SubmittersRCV000176927 RCV001507016

NM_001844.5(COL2A1):c.2286G>A (p.Gly762=)

SNV
Germline

Chr12:47982517

Conflicting classifications of pathogenicity

Condition: not provided
Type II Collagenopathies
Stickler syndrome type 1

Criteria Provided
Conflicting Classifications

CA244668

rs_371835359

3 SubmittersRCV000177768 RCV000328306 RCV000382831

NM_001844.5(COL2A1):c.2680-9C>T

SNV
Germline

Chr12:47979573

Conflicting classifications of pathogenicity

Condition: not provided
Type II Collagenopathies
Stickler syndrome type 1
COL2A1-related disorder

Criteria Provided
Conflicting Classifications

CA245565

rs_369022247

5 SubmittersRCV000723611 RCV001110029 RCV001110028 RCV004537465

NM_001844.5(COL2A1):c.3106C>T (p.Arg1036Ter)

SNV
Germline

Chr12:47978015

Pathogenic

Condition: not provided
Stickler syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA303000

rs_748459670

5 SubmittersRCV000479858 RCV000988819

NM_001854.4(COL11A1):c.3811G>T (p.Val1271Leu)

SNV
Germline

Chr1:102915636

Conflicting classifications of pathogenicity

Condition: not provided
Fibrochondrogenesis 1
Stickler syndrome type 2
Fibrochondrogenesis 1
Stickler syndrome type 2
Marshall syndrome

Criteria Provided
Conflicting Classifications

CA246297

rs_150669855

7 SubmittersRCV000179067 RCV000303130 RCV000395394 RCV002508926

NM_001854.4(COL11A1):c.4057G>A (p.Ala1353Thr)

SNV
Germline

Chr1:102912188

Conflicting classifications of pathogenicity

Fibrochondrogenesis 1
Stickler syndrome type 2
Condition: not provided
Inborn genetic diseases
COL11A1-related disorder

Criteria Provided
Conflicting Classifications

CA246381

rs_151249006

7 SubmittersRCV000352679 RCV000399033 RCV000724456 RCV002516788 RCV004537480

NM_001854.4(COL11A1):c.4468A>G (p.Ile1490Val)

SNV
Germline

Chr1:102888916

Conflicting classifications of pathogenicity

not specified
Stickler syndrome type 2
Fibrochondrogenesis 1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA203356

rs_145901197

7 SubmittersRCV000179579 RCV000306668 RCV000364746 RCV000897631 RCV004020151

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

SNV
Germline

Chr6:33165647

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA246924

rs_145343609

8 SubmittersRCV000218581 RCV000320721 RCV000328722 RCV000381022 RCV000377623 RCV000724415 RCV004545755

NM_001854.4(COL11A1):c.5198G>A (p.Arg1733His)

SNV
Germline

Chr1:102879759

Conflicting classifications of pathogenicity

Condition: not provided
Stickler syndrome type 2
Fibrochondrogenesis 1
Connective tissue disorder
Marshall syndrome
COL11A1-related disorder

Criteria Provided
Conflicting Classifications

CA246966

rs_140250347

10 SubmittersRCV000179660 RCV000271060 RCV000357636 RCV000680455 RCV001262338 RCV004539684

NM_001854.4(COL11A1):c.965C>T (p.Pro322Leu)

SNV
Germline

Chr1:103025546

Conflicting classifications of pathogenicity

Condition: not provided
Stickler syndrome type 2
Fibrochondrogenesis 1
not specified
COL11A1-related disorder

Criteria Provided
Conflicting Classifications

CA247139

rs_183130583

6 SubmittersRCV000179833 RCV001102150 RCV001102151 RCV003488432 RCV004539687

NM_001854.4(COL11A1):c.1021G>C (p.Glu341Gln)

SNV
Germline

Chr1:103022966

Conflicting classifications of pathogenicity

not specified
Fibrochondrogenesis 1
Stickler syndrome type 2
Condition: not provided
COL11A1-related disorder

Criteria Provided
Conflicting Classifications

CA247598

rs_144884147

12 SubmittersRCV000180223 RCV000302249 RCV000401943 RCV000724098 RCV004539694

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

SNV
Germline

Chr6:33186737

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3751596

rs_141430703

8 SubmittersRCV000217677 RCV000293819 RCV000348697 RCV000393362 RCV000490461 RCV000387942 RCV002277571 RCV001510421 RCV003947688

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

SNV
Germline

Chr6:33164973

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3749999

rs_555680585

6 SubmittersRCV000222702 RCV000284515 RCV000345137 RCV000346515 RCV000407039 RCV000840675 RCV002277577 RCV003929887

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

SNV
Germline

Chr6:33166522

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3750117

rs_148262058

6 SubmittersRCV000219726 RCV000302355 RCV000310534 RCV000340894 RCV000406161 RCV001705187 RCV003907789

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

SNV
Germline

Chr6:33178983

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3751282

rs_182657680

9 SubmittersRCV000219751 RCV000389556 RCV000261045 RCV000374335 RCV000295481 RCV000659335 RCV001513105

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

SNV
Germline

Chr6:33186673

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3751587

rs_201399429

3 SubmittersRCV000215858 RCV000278458 RCV000262918 RCV000372958 RCV000357558 RCV002517538

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

SNV
Germline

Chr6:33189322

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3751735

rs_35765893

7 SubmittersRCV000214622 RCV000274718 RCV000385285 RCV000275901 RCV000333347 RCV001722140 RCV002277574 RCV003165522

NM_001844.5(COL2A1):c.2574C>T (p.Gly858=)

SNV
Germline

Chr12:47980605

Conflicting classifications of pathogenicity

not specified
Connective tissue disorder
Stickler syndrome type 1
Type II Collagenopathies
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6535052

rs_141423593

10 SubmittersRCV000239357 RCV000659400 RCV001110809 RCV001110810 RCV000959727

NM_001854.4(COL11A1):c.3277-13A>C

SNV
Germline

Chr1:102940447

Conflicting classifications of pathogenicity

not specified
Stickler syndrome type 2
Fibrochondrogenesis 1
Connective tissue disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA974068

rs_371455495

6 SubmittersRCV000242571 RCV000322167 RCV000264812 RCV000659319 RCV001521966

NM_001844.5(COL2A1):c.2949C>T (p.Val983=)

SNV
Germline

Chr12:47978345

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Stickler syndrome type 1
Type II Collagenopathies

Criteria Provided
Conflicting Classifications

CA6534943

rs_201719788

5 SubmittersRCV000249904 RCV000918676 RCV001114065 RCV001114064

NM_001844.5(COL2A1):c.1649G>T (p.Arg550Leu)

SNV
Germline

Chr12:47985759

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Stickler syndrome type 1
Orofacial cleft 1

Criteria Provided
Conflicting Classifications

CA6535432

rs_186233557

8 SubmittersRCV000254258 RCV000894899 RCV000988827 RCV003320624

NM_001844.5(COL2A1):c.2617G>T (p.Gly873Trp)

SNV
Germline

Chr12:47980562

Pathogenic

Condition: not provided
Stickler syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10603262

rs_886041713

2 SubmittersRCV000335506 RCV002248504

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

SNV
Germline

Chr6:33164861

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3749989

rs_151319255

7 SubmittersRCV000263619 RCV000274352 RCV000275678 RCV000374670 RCV000369185 RCV000331778 RCV001249267 RCV003165728

NM_001852.4(COL9A2):c.919G>A (p.Gly307Ser)

SNV
Germline

Chr1:40307738

Conflicting classifications of pathogenicity

Condition: not provided
Epiphyseal dysplasia, multiple, 2
Stickler syndrome, type 5
Epiphyseal dysplasia, multiple, 2
COL9A2-related disorder

Criteria Provided
Conflicting Classifications

CA791670

rs_184896618

6 SubmittersRCV000288033 RCV001097304 RCV002480007 RCV003939967

NM_001851.6(COL9A1):c.1634G>A (p.Arg545His)

SNV
Germline

Chr6:70254994

Conflicting classifications of pathogenicity

Stickler syndrome, type 4
Epiphyseal dysplasia, multiple, 6
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3882097

rs_145698301

6 SubmittersRCV000764653 RCV000344967 RCV002518868

NM_001844.5(COL2A1):c.195C>T (p.Asp65=)

SNV
Germline

Chr12:48000016

Conflicting classifications of pathogenicity

Connective tissue disorder
Condition: not provided
Stickler syndrome type 1
Type II Collagenopathies
COL2A1-related disorder

Criteria Provided
Conflicting Classifications

CA6536076

rs_202210896

8 SubmittersRCV000659384 RCV000725382 RCV001114415 RCV001114416 RCV004535312

NM_001844.5(COL2A1):c.1634A>G (p.Asn545Ser)

SNV
Germline

Chr12:47985774

Conflicting classifications of pathogenicity

Type II Collagenopathies
Condition: not provided
Stickler syndrome type 1

Criteria Provided
Conflicting Classifications

CA6535435

rs_145042175

7 SubmittersRCV000278404 RCV000322902 RCV000373035

NM_001844.5(COL2A1):c.3311G>A (p.Gly1104Glu)

SNV
Germline

Chr12:47977118

Pathogenic/Likely pathogenic

Condition: not provided
Stickler syndrome type 1
Spondyloperipheral dysplasia

Criteria Provided
Multiple Submitters
No Conflicts

CA10605424

rs_886043356

3 SubmittersRCV000377732 RCV000988818 RCV003152704

NM_001844.5(COL2A1):c.2353C>T (p.Arg785Ter)

SNV
Germline

Chr12:47982109

Pathogenic

Condition: not provided
Stickler syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10605488

rs_886043410

4 SubmittersRCV000579307 RCV003380537

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

SNV
Germline

Chr6:33165624

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3750023

rs_370966667

4 SubmittersRCV000259748 RCV000316797 RCV000359864 RCV000356933 RCV000725854

NM_001844.5(COL2A1):c.3786C>G (p.Leu1262=)

SNV
Germline

Chr12:47975417

Conflicting classifications of pathogenicity

Stickler syndrome type 1
Type II Collagenopathies
Connective tissue disorder
Condition: not provided
COL2A1-related disorder

Criteria Provided
Conflicting Classifications

CA6534642

rs_139114389

6 SubmittersRCV000313638 RCV000404529 RCV000659407 RCV000726063 RCV004535396

NM_001854.4(COL11A1):c.2322G>A (p.Lys774=)

SNV
Germline

Chr1:102995882

Conflicting classifications of pathogenicity

Fibrochondrogenesis 1
Stickler syndrome type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA974486

rs_140608161

4 SubmittersRCV000364378 RCV000396413 RCV000726319

NM_001854.4(COL11A1):c.3639G>A (p.Gly1213=)

SNV
Germline

Chr1:102923351

Conflicting classifications of pathogenicity

Fibrochondrogenesis 1
Stickler syndrome type 2
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA973919

rs_143651470

7 SubmittersRCV000287252 RCV000342326 RCV000343729 RCV000726358

NM_001854.4(COL11A1):c.*809C>T

SNV
Germline

Chr1:102877210

Conflicting classifications of pathogenicity

Fibrochondrogenesis 1
Stickler syndrome type 2

Criteria Provided
Conflicting Classifications

CA10607188

rs_143875783

1 SubmittersRCV000277591 RCV000331347

NM_001854.4(COL11A1):c.*1227T>A

SNV
Germline

Chr1:102876792

Conflicting classifications of pathogenicity

Fibrochondrogenesis 1
Stickler syndrome type 2

Criteria Provided
Conflicting Classifications

CA10607203

rs_538679983

1 SubmittersRCV000280687 RCV000319615

NM_001854.4(COL11A1):c.*1203G>A

SNV
Germline

Chr1:102876816

Conflicting classifications of pathogenicity

Stickler syndrome type 2
Fibrochondrogenesis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10607205

rs_190577885

3 SubmittersRCV000293782 RCV000351064 RCV001778882

NM_001854.4(COL11A1):c.5003C>T (p.Pro1668Leu)

SNV
Germline

Chr1:102881734

Conflicting classifications of pathogenicity

Fibrochondrogenesis 1
Stickler syndrome type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA973347

rs_541676352

3 SubmittersRCV000265566 RCV000361283 RCV002061149

NM_001854.4(COL11A1):c.*17A>G

SNV
Germline

Chr1:102878002

Conflicting classifications of pathogenicity

Fibrochondrogenesis 1
Stickler syndrome type 2
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA973235

rs_190728953

3 SubmittersRCV000312598 RCV000394113 RCV001705438 RCV003387826

NM_001854.4(COL11A1):c.4495C>T (p.Pro1499Ser)

SNV
Germline

Chr1:102888889

Conflicting classifications of pathogenicity

Fibrochondrogenesis 1
Stickler syndrome type 2
Condition: not provided
COL11A1-related disorder

Criteria Provided
Conflicting Classifications

CA973507

rs_199952288

4 SubmittersRCV000310065 RCV000399173 RCV001567972 RCV004543154

NM_001854.4(COL11A1):c.3473T>C (p.Val1158Ala)

SNV
Germline

Chr1:102935079

Conflicting classifications of pathogenicity

Fibrochondrogenesis 1
Stickler syndrome type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA974003

rs_375675171

4 SubmittersRCV000348216 RCV000406086 RCV001590910

NM_001854.4(COL11A1):c.1180A>G (p.Thr394Ala)

SNV
Germline

Chr1:103022807

Conflicting classifications of pathogenicity

Stickler syndrome type 2
Fibrochondrogenesis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA975103

rs_538837278

2 SubmittersRCV000282658 RCV000337630 RCV001859738

NM_001854.4(COL11A1):c.4594C>G (p.Pro1532Ala)

SNV
Germline

Chr1:102888591

Conflicting classifications of pathogenicity

Stickler syndrome type 2
Fibrochondrogenesis 1
Condition: not provided
Meniere disease

Criteria Provided
Conflicting Classifications

CA973471

rs_140954784

4 SubmittersRCV000279813 RCV000338595 RCV001660559 RCV004567841

NM_001854.4(COL11A1):c.4222G>A (p.Gly1408Ser)

SNV
Germline

Chr1:102898692

Conflicting classifications of pathogenicity

Fibrochondrogenesis 1
Stickler syndrome type 2
Condition: not provided
Inborn genetic diseases
Intervertebral disc disorder
Stickler syndrome type 2
Hearing loss, autosomal dominant 37
Marshall syndrome
Fibrochondrogenesis 1

Criteria Provided
Conflicting Classifications

CA973631

rs_200496207

8 SubmittersRCV000368686 RCV000393287 RCV000488030 RCV002519362 RCV002480062

NM_001854.4(COL11A1):c.3447C>T (p.Pro1149=)

SNV
Germline

Chr1:102935105

Conflicting classifications of pathogenicity

Stickler syndrome type 2
Fibrochondrogenesis 1
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA974007

rs_141432979

6 SubmittersRCV000351641 RCV000393367 RCV001443185 RCV001700031

NM_001854.4(COL11A1):c.3297G>C (p.Gly1099=)

SNV
Germline

Chr1:102940414

Conflicting classifications of pathogenicity

Fibrochondrogenesis 1
Stickler syndrome type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA974062

rs_768553239

3 SubmittersRCV000323162 RCV000380333 RCV000488327

NM_001854.4(COL11A1):c.4805A>G (p.Asn1602Ser)

SNV
Germline

Chr1:102886860

Conflicting classifications of pathogenicity

Stickler syndrome type 2
Fibrochondrogenesis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA973405

rs_75495145

3 SubmittersRCV000295104 RCV000397331 RCV001770228

NM_001854.4(COL11A1):c.4719G>A (p.Ser1573=)

SNV
Germline

Chr1:102886946

Conflicting classifications of pathogenicity

Stickler syndrome type 2
Fibrochondrogenesis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA973425

rs_3753842

3 SubmittersRCV000306183 RCV000353979 RCV001569059

NM_001854.4(COL11A1):c.4627A>C (p.Ile1543Leu)

SNV
Germline

Chr1:102887038

Conflicting classifications of pathogenicity

Stickler syndrome type 2
Fibrochondrogenesis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA973450

rs_558548172

7 SubmittersRCV000319120 RCV000366831 RCV001579794

NM_001854.4(COL11A1):c.328G>C (p.Gly110Arg)

SNV
Germline

Chr1:103078818

Conflicting classifications of pathogenicity

Stickler syndrome type 2
Fibrochondrogenesis 1
Condition: not provided
Connective tissue disorder
COL11A1-related disorder
Meniere disease

Criteria Provided
Conflicting Classifications

CA975481

rs_141978499

10 SubmittersRCV000351685 RCV000404285 RCV000513856 RCV000680462 RCV004537629 RCV004567844

NM_001854.4(COL11A1):c.318A>G (p.Lys106=)

SNV
Germline

Chr1:103078828

Conflicting classifications of pathogenicity

Fibrochondrogenesis 1
Stickler syndrome type 2
Condition: not provided
COL11A1-related disorder

Criteria Provided
Conflicting Classifications

CA975483

rs_150668398

6 SubmittersRCV000303801 RCV000398172 RCV000841411 RCV004543155

NM_001854.4(COL11A1):c.107-12C>T

SNV
Germline

Chr1:103082984

Conflicting classifications of pathogenicity

Fibrochondrogenesis 1
Stickler syndrome type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA975552

rs_200564243

2 SubmittersRCV000280386 RCV000340193 RCV002059317

NM_001854.4(COL11A1):c.1949C>G (p.Pro650Arg)

SNV
Germline

Chr1:103003264

Conflicting classifications of pathogenicity

Fibrochondrogenesis 1
Stickler syndrome type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA974721

rs_199875795

2 SubmittersRCV000290623 RCV000393400 RCV001859737

NM_001854.4(COL11A1):c.1630-13T>C

SNV
Germline

Chr1:103008529

Conflicting classifications of pathogenicity

Fibrochondrogenesis 1
Stickler syndrome type 2
Connective tissue disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA974899

rs_370547604

4 SubmittersRCV000298923 RCV000338624 RCV000659312 RCV001697642

NM_001854.4(COL11A1):c.1896G>A (p.Met632Ile)

SNV
Germline

Chr1:103004611

Conflicting classifications of pathogenicity

Stickler syndrome type 2
Fibrochondrogenesis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA974770

rs_199835797

3 SubmittersRCV000315632 RCV000354589 RCV000896116

NM_001854.4(COL11A1):c.1427G>A (p.Arg476His)

SNV
Germline

Chr1:103015729

Conflicting classifications of pathogenicity

Fibrochondrogenesis 1
Stickler syndrome type 2
Condition: not provided
Meniere disease

Criteria Provided
Conflicting Classifications

CA974978

rs_149558726

5 SubmittersRCV000275597 RCV000330638 RCV000494431 RCV004567842

NM_001854.4(COL11A1):c.1506T>C (p.Asp502=)

SNV
Germline

Chr1:103014577

Conflicting classifications of pathogenicity

Stickler syndrome type 2
Fibrochondrogenesis 1
Condition: not provided
COL11A1-related disorder

Criteria Provided
Conflicting Classifications

CA974949

rs_141770006

5 SubmittersRCV000264137 RCV000305207 RCV000922939 RCV004537628

NM_001854.4(COL11A1):c.628A>G (p.Ile210Val)

SNV
Germline

Chr1:103074641

Conflicting classifications of pathogenicity

Stickler syndrome type 2
Fibrochondrogenesis 1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA975398

rs_779282500

3 SubmittersRCV000324984 RCV000384258 RCV001859739 RCV003258737

NM_001854.4(COL11A1):c.898-15T>C

SNV
Germline

Chr1:103025628

Conflicting classifications of pathogenicity

Fibrochondrogenesis 1
Stickler syndrome type 2
Condition: not provided
not specified
Connective tissue disorder

Criteria Provided
Conflicting Classifications

CA975201

rs_200242905

5 SubmittersRCV000315727 RCV000374868 RCV002059316 RCV000615388 RCV000659308

NM_001854.4(COL11A1):c.3788C>T (p.Pro1263Leu)

SNV
Germline

Chr1:102915659

Conflicting classifications of pathogenicity

Stickler syndrome type 2
Fibrochondrogenesis 1
Stickler syndrome type 2
Hearing loss, autosomal dominant 37
Marshall syndrome
Fibrochondrogenesis 1
Intervertebral disc disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA973846

rs_767905237

3 SubmittersRCV000269269 RCV000364042 RCV002487297 RCV002522048

NM_001854.4(COL11A1):c.3229C>A (p.Pro1077Thr)

SNV
Germline

Chr1:102946896

Conflicting classifications of pathogenicity

Fibrochondrogenesis 1
Stickler syndrome type 2
Condition: not provided
Hearing loss, autosomal dominant 37

Criteria Provided
Conflicting Classifications

CA974092

rs_144562769

5 SubmittersRCV000291280 RCV000343870 RCV001823132 RCV003228921

NM_001854.4(COL11A1):c.2020C>T (p.Pro674Ser)

SNV
Germline

Chr1:103002770

Conflicting classifications of pathogenicity

Stickler syndrome type 2
Fibrochondrogenesis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA974667

rs_201849355

3 SubmittersRCV000317432 RCV000378977 RCV001409133

NM_001854.4(COL11A1):c.-50A>G

SNV
Germline

Chr1:103108228

Conflicting classifications of pathogenicity

Fibrochondrogenesis 1
Stickler syndrome type 2
not specified

Criteria Provided
Conflicting Classifications

CA975605

rs_369810404

2 SubmittersRCV000277506 RCV000332521 RCV000612431

NM_001854.4(COL11A1):c.1489-5C>A

SNV
Germline

Chr1:103014599

Conflicting classifications of pathogenicity

Stickler syndrome type 2
Fibrochondrogenesis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA974954

rs_370997745

4 SubmittersRCV000324902 RCV000359911 RCV000598053

NM_001854.4(COL11A1):c.1320C>T (p.Val440=)

SNV
Germline

Chr1:103018848

Conflicting classifications of pathogenicity

Stickler syndrome type 2
Fibrochondrogenesis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA975026

rs_201585594

3 SubmittersRCV000295627 RCV000389895 RCV000933405

NM_001854.4(COL11A1):c.845A>G (p.Glu282Gly)

SNV
Germline

Chr1:103026268

Conflicting classifications of pathogenicity

Stickler syndrome type 2
Fibrochondrogenesis 1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA975293

rs_199539580

4 SubmittersRCV000321904 RCV000376489 RCV001569728 RCV002519363

NM_001854.4(COL11A1):c.1011A>T (p.Ile337=)

SNV
Germline

Chr1:103022976

Conflicting classifications of pathogenicity

Fibrochondrogenesis 1
Stickler syndrome type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA975135

rs_563115409

2 SubmittersRCV000308205 RCV000362860 RCV003765692

NM_001854.4(COL11A1):c.698A>G (p.Tyr233Cys)

SNV
Germline

Chr1:103031198

Conflicting classifications of pathogenicity

Stickler syndrome type 2
Fibrochondrogenesis 1
Condition: not provided
Connective tissue disorder
not specified
Meniere disease

Criteria Provided
Conflicting Classifications

CA975345

rs_141304474

6 SubmittersRCV000287951 RCV000403940 RCV001660560 RCV002278329 RCV004525918 RCV004567843

NM_001854.4(COL11A1):c.489-7T>G

SNV
Germline

Chr1:103074787

Conflicting classifications of pathogenicity

Stickler syndrome type 2
Fibrochondrogenesis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA975428

rs_372555374

4 SubmittersRCV000296697 RCV000349482 RCV001516125

NM_001852.4(COL9A2):c.1400A>G (p.Gln467Arg)

SNV
Germline

Chr1:40303808

Conflicting classifications of pathogenicity

Epiphyseal dysplasia, multiple, 2
not specified
Stickler syndrome, type 5
Epiphyseal dysplasia, multiple, 2
Condition: not provided
COL9A2-related disorder

Criteria Provided
Conflicting Classifications

CA791455

rs_373264436

7 SubmittersRCV000372533 RCV000478668 RCV000763903 RCV001315749 RCV003940120

NM_001852.4(COL9A2):c.1123C>G (p.Arg375Gly)

SNV
Germline

Chr1:40304832

Conflicting classifications of pathogenicity

Epiphyseal dysplasia, multiple, 2
Condition: not provided
Epiphyseal dysplasia, multiple, 2
Stickler syndrome, type 5
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA791577

rs_375476174

5 SubmittersRCV000360126 RCV000498672 RCV000509212 RCV002520489

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

SNV
Germline

Chr6:33165648

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3750029

rs_141254777

6 SubmittersRCV000294143 RCV000295270 RCV000352446 RCV000391825 RCV000766647 RCV000498284 RCV003401372

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

SNV
Germline

Chr6:33165713

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3750047

rs_201315111

3 SubmittersRCV000297620 RCV000306065 RCV000354788 RCV000406272 RCV001553516

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

SNV
Germline

Chr6:33169867

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3750420

rs_146962984

5 SubmittersRCV000325506 RCV000331502 RCV000366423 RCV000386057 RCV000605457 RCV003957835 RCV002058602

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

SNV
Germline

Chr6:33171152

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3750551

rs_141164483

3 SubmittersRCV000260343 RCV000348277 RCV000355182 RCV000405447 RCV001580488

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

SNV
Germline

Chr6:33172580

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3750711

rs_768902062

3 SubmittersRCV000282164 RCV000283442 RCV000337227 RCV000391260 RCV001770281

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

SNV
Germline

Chr6:33180977

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3751427

rs_201179101

4 SubmittersRCV000289243 RCV000330126 RCV000383614 RCV000388187 RCV000506175 RCV001584080

NM_001851.6(COL9A1):c.902C>T (p.Pro301Leu)

SNV
Germline

Chr6:70281014

Conflicting classifications of pathogenicity

Condition: not provided
Hearing impairment
Connective tissue disorder
Stickler syndrome, type 4
COL9A1-related disorder

Criteria Provided
Conflicting Classifications

CA3882594

rs_192047082

7 SubmittersRCV000991647 RCV001375076 RCV002278615 RCV003447524 RCV003950271

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

SNV
Germline

Chr6:33164386

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3749945

rs_766589324

2 SubmittersRCV000292764 RCV000332746 RCV000374418 RCV000338427 RCV001850898

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

SNV
Germline

Chr6:33171771

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3750643

rs_528009333

4 SubmittersRCV000274780 RCV000294955 RCV000317488 RCV000389201 RCV000596294

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

SNV
Germline

Chr6:33176291

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3751010

rs_188490457

5 SubmittersRCV000276412 RCV000319359 RCV000333898 RCV000353689 RCV001559646 RCV000602277

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

SNV
Germline

Chr6:33188515

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3751656

rs_147115504

2 SubmittersRCV000290354 RCV000304362 RCV000345336 RCV000390399 RCV002058606

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

SNV
Germline

Chr6:33162972

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10626485

rs_548143581

1 SubmittersRCV000301827 RCV000305218 RCV000365271 RCV000403042

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

SNV
Germline

Chr6:33169456

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3750387

rs_534570825

5 SubmittersRCV000280238 RCV000300075 RCV000408334 RCV000408369 RCV000657971 RCV002523565 RCV000609757

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

SNV
Germline

Chr6:33171316

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3750581

rs_781462105

2 SubmittersRCV000266996 RCV000291601 RCV000346715 RCV000381311 RCV002058603

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

SNV
Germline

Chr6:33174541

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3750918

rs_376355040

2 SubmittersRCV000268237 RCV000303393 RCV000307051 RCV000360580 RCV002058604

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

SNV
Germline

Chr6:33176080

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3750990

rs_557236389

1 SubmittersRCV000305033 RCV000340039 RCV000343499 RCV000391431

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

SNV
Germline

Chr6:33178293

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3751191

rs_549588854

2 SubmittersRCV000263379 RCV000266997 RCV000324551 RCV000320843 RCV002524475

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

SNV
Germline

Chr6:33162856

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10626641

rs_536130072

1 SubmittersRCV000335549 RCV000348721 RCV000374946 RCV000403286

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

SNV
Germline

Chr6:33168729

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3750325

rs_758507327

5 SubmittersRCV000264819 RCV000323351 RCV000322375 RCV000383939 RCV001850899 RCV002487566

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

SNV
Germline

Chr6:33168957

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10626652

rs_886061315

3 SubmittersRCV000292046 RCV000293307 RCV000352855 RCV000382942 RCV001850900

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

SNV
Germline

Chr6:33173349

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3750754

rs_548592690

3 SubmittersRCV000274611 RCV000309896 RCV000331935 RCV000366859 RCV001850901

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

SNV
Germline

Chr6:33173400

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3750764

rs_555936455

3 SubmittersRCV000290480 RCV000344614 RCV000379273 RCV000400234 RCV001538789

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

SNV
Germline

Chr6:33175679

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3750960

rs_745568808

6 SubmittersRCV000278172 RCV000282672 RCV000335519 RCV000374777 RCV000680470 RCV001338547 RCV003957836

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

SNV
Germline

Chr6:33179784

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3751368

rs_764998691

3 SubmittersRCV000291185 RCV000346166 RCV000386159 RCV000350359 RCV001662334

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

SNV
Germline

Chr6:33192236

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3751773

rs_568840295

4 SubmittersRCV000289533 RCV000327462 RCV000384306 RCV000342251 RCV002461106 RCV003387834

NM_001844.5(COL2A1):c.4250A>G (p.Asn1417Ser)

SNV
Germline

Chr12:47974156

Conflicting classifications of pathogenicity

Type II Collagenopathies
Stickler syndrome type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6534514

rs_537186508

3 SubmittersRCV000315540 RCV000354121 RCV001582948

NM_001844.5(COL2A1):c.3494C>T (p.Pro1165Leu)

SNV
Germline

Chr12:47976066

Conflicting classifications of pathogenicity

Stickler syndrome type 1
Condition: not provided
Type II Collagenopathies

Criteria Provided
Conflicting Classifications

CA6534720

rs_374156023

2 SubmittersRCV000266329 RCV001850630 RCV000361437

NM_001844.5(COL2A1):c.2819G>A (p.Arg940Gln)

SNV
Germline

Chr12:47978673

Conflicting classifications of pathogenicity

Stickler syndrome type 1
Type II Collagenopathies
Condition: not provided
Stickler syndrome, type I, nonsyndromic ocular

Criteria Provided
Conflicting Classifications

CA6534977

rs_533540496

3 SubmittersRCV000289195 RCV000406174 RCV002056296 RCV004549667

NM_001844.5(COL2A1):c.1680+9C>A

SNV
Germline

Chr12:47985719

Conflicting classifications of pathogenicity

Type II Collagenopathies
Stickler syndrome type 1
COL2A1-related disorder

Criteria Provided
Conflicting Classifications

CA6535425

rs_371857655

2 SubmittersRCV000266835 RCV000379960 RCV004544529

NM_001844.5(COL2A1):c.1680+8G>T

SNV
Germline

Chr12:47985720

Conflicting classifications of pathogenicity

Type II Collagenopathies
Stickler syndrome type 1
COL2A1-related disorder

Criteria Provided
Conflicting Classifications

CA6535426

rs_754310324

2 SubmittersRCV000321992 RCV000376050 RCV004544530

NM_001844.5(COL2A1):c.85+10C>G

SNV
Germline

Chr12:48004227

Conflicting classifications of pathogenicity

Stickler syndrome type 1
Type II Collagenopathies
Connective tissue disorder
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA6536118

rs_769941617

7 SubmittersRCV000285542 RCV000382203 RCV000680498 RCV000919210 RCV000611318

NM_001844.5(COL2A1):c.4375C>T (p.Arg1459Cys)

SNV
Germline

Chr12:47973496

Conflicting classifications of pathogenicity

Stickler syndrome type 1
Type II Collagenopathies
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6534469

rs_148838496

3 SubmittersRCV000312017 RCV000402928 RCV001235510

NM_001844.5(COL2A1):c.4264C>T (p.Arg1422Trp)

SNV
Germline

Chr12:47974142

Conflicting classifications of pathogenicity

Type II Collagenopathies
Stickler syndrome type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6534511

rs_754466377

2 SubmittersRCV000350564 RCV000396722 RCV001344740

NM_001844.5(COL2A1):c.3736G>A (p.Gly1246Ser)

SNV
Germline

Chr12:47975467

Conflicting classifications of pathogenicity

Type II Collagenopathies
Stickler syndrome type 1
not specified
Connective tissue disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6534653

rs_147569641

8 SubmittersRCV000349799 RCV000397377 RCV000438916 RCV000680493 RCV000893653

NM_001844.5(COL2A1):c.2281G>A (p.Ala761Thr)

SNV
Germline

Chr12:47982522

Conflicting classifications of pathogenicity

Type II Collagenopathies
Stickler syndrome type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6535166

rs_751436440

3 SubmittersRCV000288414 RCV000343300 RCV002262963

NM_001844.5(COL2A1):c.1366-13C>A

SNV
Germline

Chr12:47986901

Conflicting classifications of pathogenicity

Stickler syndrome type 1
Type II Collagenopathies
Connective tissue disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6535495

rs_200984998

4 SubmittersRCV000269517 RCV000364110 RCV000659392 RCV001398631

NM_001844.5(COL2A1):c.1077C>G (p.Val359=)

SNV
Germline

Chr12:47989273

Conflicting classifications of pathogenicity

Stickler syndrome type 1
Type II Collagenopathies
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6535612

rs_202002349

2 SubmittersRCV000265928 RCV000321211 RCV002056298

NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu)

SNV
Germline

Chr12:47994437

Conflicting classifications of pathogenicity

Type II Collagenopathies
Stickler syndrome type 1
14 conditions
Condition: not provided
COL2A1-related disorder

Criteria Provided
Conflicting Classifications

CA6535779

rs_142770543

6 SubmittersRCV000296689 RCV000351659 RCV000763850 RCV000976095 RCV004537733

NM_001844.5(COL2A1):c.3561T>G (p.Pro1187=)

SNV
Germline

Chr12:47975999

Conflicting classifications of pathogenicity

Type II Collagenopathies
Stickler Syndrome, Dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6534708

rs_536885536

3 SubmittersRCV000270293 RCV000306779 RCV001697751

NM_001844.5(COL2A1):c.3047G>A (p.Arg1016Lys)

SNV
Germline

Chr12:47978074

Conflicting classifications of pathogenicity

Type II Collagenopathies
Stickler syndrome type 1
Condition: not provided
Mendelian syndromes with cleft lip/palate
COL2A1-related disorder

Criteria Provided
Conflicting Classifications

CA6534909

rs_146046296

5 SubmittersRCV000333414 RCV000387243 RCV001403750 RCV003314586 RCV004544528

NM_001844.5(COL2A1):c.2410-11C>T

SNV
Germline

Chr12:47981407

Conflicting classifications of pathogenicity

Type II Collagenopathies
Stickler syndrome type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10641337

rs_886049447

2 SubmittersRCV000261465 RCV000356094 RCV001469152

NM_001844.5(COL2A1):c.1938T>C (p.Pro646=)

SNV
Germline

Chr12:47984090

Conflicting classifications of pathogenicity

Stickler syndrome type 1
Type II Collagenopathies
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6535323

rs_368641858

2 SubmittersRCV000273727 RCV000369857 RCV002056297

NM_001844.5(COL2A1):c.1659A>G (p.Glu553=)

SNV
Germline

Chr12:47985749

Conflicting classifications of pathogenicity

Stickler syndrome type 1
Type II Collagenopathies
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6535431

rs_756360655

2 SubmittersRCV000282098 RCV000337083 RCV003765810

NM_001844.5(COL2A1):c.1498G>A (p.Val500Ile)

SNV
Germline

Chr12:47986365

Conflicting classifications of pathogenicity

Stickler syndrome type 1
Type II Collagenopathies
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6535468

rs_768110640

3 SubmittersRCV000312447 RCV000349004 RCV001764277

NM_001844.5(COL2A1):c.1004C>G (p.Thr335Ser)

SNV
Germline

Chr12:47992897

Conflicting classifications of pathogenicity

Type II Collagenopathies
Stickler Syndrome, Dominant
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6535669

rs_755043901

3 SubmittersRCV000317732 RCV000372472 RCV001753770

NM_001844.5(COL2A1):c.246C>T (p.Phe82=)

SNV
Germline

Chr12:47999965

Conflicting classifications of pathogenicity

Type II Collagenopathies
Stickler syndrome type 1
Condition: not provided
COL2A1-related disorder

Criteria Provided
Conflicting Classifications

CA6536069

rs_142161948

6 SubmittersRCV000331550 RCV000383362 RCV000757109 RCV004544531

NM_001844.5(COL2A1):c.*305G>A

SNV
Germline

Chr12:47973102

Conflicting classifications of pathogenicity

Stickler syndrome type 1
Type II Collagenopathies
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10642340

rs_532700241

2 SubmittersRCV000309876 RCV000366892 RCV003391102

NM_001844.5(COL2A1):c.4117G>A (p.Val1373Ile)

SNV
Germline

Chr12:47974289

Conflicting classifications of pathogenicity

Type II Collagenopathies
Stickler syndrome type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6534531

rs_778382364

2 SubmittersRCV000272004 RCV000357617 RCV001850629

NM_001851.6(COL9A1):c.876+2T>A

SNV
Germline

Chr6:70281388

Conflicting classifications of pathogenicity

Epiphyseal dysplasia, multiple, 6
Condition: not provided
Stickler syndrome, type 4
COL9A1-related disorder

Criteria Provided
Conflicting Classifications

CA3882632

rs_149830493

6 SubmittersRCV000415246 RCV000579034 RCV001334962 RCV004529569

NM_001854.4(COL11A1):c.2754+5G>A

SNV
Germline

Chr1:102978703

Pathogenic

Stickler syndrome type 2
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16043725

rs_1057518666

3 SubmittersRCV000414977 RCV000489508

NM_001854.4(COL11A1):c.4802C>A (p.Thr1601Asn)

SNV
Germline

Chr1:102886863

Conflicting classifications of pathogenicity

Condition: not provided
Connective tissue disorder
Stickler syndrome type 2
Fibrochondrogenesis 1
Inborn genetic diseases
COL11A1-related disorder

Criteria Provided
Conflicting Classifications

CA973407

rs_143206624

6 SubmittersRCV000439022 RCV000680456 RCV001097885 RCV001097884 RCV004022502 RCV004533127

NM_001844.5(COL2A1):c.2818C>T (p.Arg940Ter)

SNV
Germline

Chr12:47978674

Pathogenic

Condition: not provided
Stickler syndrome type 1
COL2A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA16606625

rs_1057524114

4 SubmittersRCV000438911 RCV001526694 RCV004533123

NM_001852.4(COL9A2):c.2059A>G (p.Lys687Glu)

SNV
Germline

Chr1:40301193

Conflicting classifications of pathogenicity

Intervertebral disc disorder
Epiphyseal dysplasia, multiple, 2
Stickler syndrome, type 5
Epiphyseal dysplasia, multiple, 2
Condition: not provided
Meniere disease

Criteria Provided
Conflicting Classifications

CA791246

rs_201847956

5 SubmittersRCV000477829 RCV001100678 RCV001489852 RCV004568139

NM_001844.5(COL2A1):c.1300C>T (p.Pro434Ser)

SNV
Germline

Chr12:47987143

Conflicting classifications of pathogenicity

Stickler syndrome type 1
Type II Collagenopathies
Condition: not provided
Hearing impairment
COL2A1-related disorder

Criteria Provided
Conflicting Classifications

CA6535523

rs_140985224

8 SubmittersRCV001110199 RCV001110200 RCV000723634 RCV001375461 RCV004535536

NM_001844.5(COL2A1):c.1597C>T (p.Arg533Ter)

SNV
Germline

Chr12:47985811

Pathogenic

Condition: not provided
Stickler syndrome type 1
Heart, malformation of
Micrognathia
Connective tissue disorder
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA384551753

rs_1085307608

9 SubmittersRCV000489991 RCV002286574 RCV002264702 RCV002279261 RCV003155213

NM_001844.5(COL2A1):c.655G>A (p.Gly219Arg)

SNV
Germline

Chr12:47995763

Pathogenic

Condition: not provided
Stickler syndrome type 1
COL2A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA384523805

rs_1131691822

3 SubmittersRCV000494511 RCV001089571 RCV004527601

NM_001844.5(COL2A1):c.2141G>A (p.Gly714Asp)

SNV
Germline

Chr12:47982900

Conflicting classifications of pathogenicity

not specified
Stickler syndrome type 1

Criteria Provided
Conflicting Classifications

CA384547035

rs_1555166537

2 SubmittersRCV000506248 RCV003988849

NM_001851.6(COL9A1):c.353G>A (p.Arg118Gln)

SNV
Germline

Chr6:70294510

Conflicting classifications of pathogenicity

Condition: not provided
Stickler syndrome, type 4
Epiphyseal dysplasia, multiple, 6

Criteria Provided
Conflicting Classifications

CA3882832

rs_143848379

4 SubmittersRCV000732119 RCV000764655

NM_001844.5(COL2A1):c.2101C>T (p.Arg701Ter)

SNV
Germline

Chr12:47982940

Pathogenic

Condition: not provided
Stickler syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA384547258

rs_1555166555

4 SubmittersRCV000522045 RCV000988825

NM_001854.4(COL11A1):c.4547G>T (p.Gly1516Val)

SNV
Germline

Chr1:102888730

Pathogenic/Likely pathogenic

Condition: not provided
Marshall syndrome
Stickler syndrome type 2
Marshall syndrome
Hearing loss, autosomal dominant 37
Stickler syndrome type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA341212387

rs_1553193910

4 SubmittersRCV000591257 RCV000624108 RCV001824151 RCV001799515

NM_001854.4(COL11A1):c.4087-4A>G

SNV
Germline

Chr1:102898998

Conflicting classifications of pathogenicity

Fibrochondrogenesis 1
Stickler syndrome type 2
Condition: not provided
COL11A1-related disorder

Criteria Provided
Conflicting Classifications

CA973675

rs_137999403

4 SubmittersRCV001101757 RCV001101756 RCV000919370 RCV004533237

NM_001844.5(COL2A1):c.3385C>T (p.Leu1129=)

SNV
Germline

Chr12:47976862

Conflicting classifications of pathogenicity

not specified
Type II Collagenopathies
Stickler syndrome type 1
Condition: not provided
COL2A1-related disorder

Criteria Provided
Conflicting Classifications

CA6534774

rs_745633496

4 SubmittersRCV000614112 RCV001109932 RCV001109933 RCV001474367 RCV004544744

NM_001844.5(COL2A1):c.1023+3G>A

SNV
Germline

Chr12:47992875

Conflicting classifications of pathogenicity

Stickler syndrome type 1
Type II Collagenopathies
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6535660

rs_374570848

3 SubmittersRCV001112956 RCV001112957 RCV001697443

NM_001844.5(COL2A1):c.3120C>T (p.Pro1040=)

SNV
Germline

Chr12:47977645

Conflicting classifications of pathogenicity

Stickler syndrome type 1
Type II Collagenopathies
Condition: not provided
not specified
COL2A1-related disorder

Criteria Provided
Conflicting Classifications

CA236521255

rs_367982631

6 SubmittersRCV001112704 RCV001112705 RCV001481593 RCV001729657 RCV004544754

NM_001853.4(COL9A3):c.1411C>T (p.Arg471Ter)

SNV
Germline

Chr20:62836196

Pathogenic

Inborn genetic diseases
Stickler syndrome, IIa 6
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA9949974

rs_747896279

3 SubmittersRCV000623697 RCV002279960 RCV003117430

NM_001844.5(COL2A1):c.3723C>T (p.Ala1241=)

SNV
Germline

Chr12:47975480

Conflicting classifications of pathogenicity

Connective tissue disorder
Stickler syndrome type 1
Type II Collagenopathies
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_200993187

5 SubmittersRCV000659405 RCV001113968 RCV001112622 RCV001511229

NM_001844.5(COL2A1):c.3166-1G>A

SNV
Germline

Chr12:47977428

Pathogenic

Stickler syndrome type 1

Criteria Provided
Single Submitter

rs_1555165204

1 SubmittersRCV000659402

NM_001844.5(COL2A1):c.2304T>C (p.Gly768=)

SNV
Germline

Chr12:47982158

Conflicting classifications of pathogenicity

Connective tissue disorder
Condition: not provided
Stickler syndrome type 1

Criteria Provided
Conflicting Classifications

rs_925297712

3 SubmittersRCV000659397 RCV002066958 RCV002470945

NM_001844.5(COL2A1):c.2049+1G>A

SNV
Germline

Chr12:47983384

Likely pathogenic

Stickler syndrome type 1

Criteria Provided
Single Submitter

rs_1555166658

1 SubmittersRCV000659394

NM_001844.5(COL2A1):c.1177G>A (p.Gly393Ser)

SNV
Germline

Chr12:47987655

Pathogenic

Stickler syndrome type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1025202963

2 SubmittersRCV000659391 RCV001868174

NM_001844.5(COL2A1):c.550G>A (p.Ala184Thr)

SNV
Germline

Chr12:47996607

Conflicting classifications of pathogenicity

Connective tissue disorder
Stickler syndrome type 1
Type II Collagenopathies
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_201817670

5 SubmittersRCV000659386 RCV001111049 RCV001111050 RCV001433646

NM_001844.5(COL2A1):c.156C>A (p.Cys52Ter)

SNV
Germline

Chr12:48000055

Pathogenic/Likely pathogenic

Stickler syndrome type 1
Condition: not provided
COL2A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_1246771678

4 SubmittersRCV000659383 RCV001387827 RCV004533444

NM_001852.4(COL9A2):c.458C>T (p.Pro153Leu)

SNV
Germline

Chr1:40311675

Conflicting classifications of pathogenicity

Epiphyseal dysplasia, multiple, 2
Stickler syndrome, type 5
Epiphyseal dysplasia, multiple, 2
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_77937237

6 SubmittersRCV000660517 RCV001099057 RCV001199907 RCV001369753

NM_001854.4(COL11A1):c.4396G>T (p.Glu1466Ter)

SNV
Germline

Chr1:102889523

Pathogenic

Stickler syndrome type 2

Criteria Provided
Single Submitter

rs_866783525

1 SubmittersRCV000679954

NM_001844.5(COL2A1):c.798G>A (p.Arg266=)

SNV
Germline

Chr12:47994442

Conflicting classifications of pathogenicity

Condition: not provided
Type II Collagenopathies
Stickler syndrome type 1

Criteria Provided
Conflicting Classifications

rs_376753701

4 SubmittersRCV000728040 RCV001112960 RCV001114314

NM_001844.5(COL2A1):c.4116C>T (p.Asn1372=)

SNV
Germline

Chr12:47974290

Conflicting classifications of pathogenicity

Condition: not provided
Stickler syndrome type 1
Type II Collagenopathies
Connective tissue disorder

Criteria Provided
Conflicting Classifications

rs_150237416

6 SubmittersRCV000729624 RCV001109851 RCV001109850 RCV002279503

NM_001851.6(COL9A1):c.1052C>A (p.Ser351Ter)

SNV
Germline

Chr6:70274060

Likely pathogenic

Condition: not provided
Stickler syndrome, type 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_201035486

3 SubmittersRCV000733131 RCV003989592

NM_001844.5(COL2A1):c.2035A>T (p.Lys679Ter)

SNV
Unknown

Chr12:47983399

Pathogenic

Stickler syndrome type 1

Criteria Provided
Single Submitter

rs_1565679039

1 SubmittersRCV000735218

NM_001854.4(COL11A1):c.2972G>A (p.Gly991Asp)

SNV
Germline

Chr1:102962705

Likely pathogenic

Stickler syndrome type 2

Criteria Provided
Single Submitter

rs_1557877041

1 SubmittersRCV000761265

NM_001844.5(COL2A1):c.3136C>T (p.Pro1046Ser)

SNV
Germline

Chr12:47977629

Likely pathogenic

Stickler syndrome, type I, nonsyndromic ocular

Criteria Provided
Single Submitter

rs_751205887

1 SubmittersRCV000789039

NM_001854.4(COL11A1):c.1926A>G (p.Arg642=)

SNV
Germline

Chr1:103004462

Conflicting classifications of pathogenicity

Condition: not provided
Fibrochondrogenesis 1
Stickler syndrome type 2
COL11A1-related disorder

Criteria Provided
Conflicting Classifications

rs_142506188

4 SubmittersRCV000841256 RCV001102044 RCV001102045 RCV004540139

NM_001854.4(COL11A1):c.456C>T (p.Pro152=)

SNV
Germline

Chr1:103078690

Conflicting classifications of pathogenicity

Condition: not provided
Fibrochondrogenesis 1
Stickler syndrome type 2
COL11A1-related disorder

Criteria Provided
Conflicting Classifications

rs_751512442

5 SubmittersRCV000905879 RCV001102231 RCV001102232 RCV004541918

NM_001854.4(COL11A1):c.489-4T>A

SNV
Germline

Chr1:103074784

Conflicting classifications of pathogenicity

Condition: not provided
Stickler syndrome type 2
Fibrochondrogenesis 1

Criteria Provided
Conflicting Classifications

rs_371357098

3 SubmittersRCV000903567 RCV001102227 RCV001102228

NM_001854.4(COL11A1):c.924A>G (p.Glu308=)

SNV
Germline

Chr1:103025587

Conflicting classifications of pathogenicity

Condition: not provided
Fibrochondrogenesis 1
Stickler syndrome type 2

Criteria Provided
Conflicting Classifications

rs_1010235940

2 SubmittersRCV000911268 RCV001096733 RCV001096732

NM_001854.4(COL11A1):c.3978+1G>A

SNV
Germline

Chr1:102914351

Conflicting classifications of pathogenicity

Fibrochondrogenesis 1
Stickler syndrome type 2

Criteria Provided
Conflicting Classifications

rs_1570712889

2 SubmittersRCV000986390 RCV002290500

NM_001844.5(COL2A1):c.3013G>A (p.Gly1005Ser)

SNV
Germline

Chr12:47978108

Pathogenic/Likely pathogenic

Stickler syndrome type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_753342774

2 SubmittersRCV000988820 RCV003558623

NM_001844.5(COL2A1):c.2679+1G>A

SNV
Unknown

Chr12:47980008

Pathogenic

Stickler syndrome type 1

Criteria Provided
Single Submitter

rs_1592205758

1 SubmittersRCV000988822

NM_001844.5(COL2A1):c.2596C>T (p.Gln866Ter)

SNV
Unknown

Chr12:47980583

Likely pathogenic

Stickler syndrome type 1

Criteria Provided
Single Submitter

rs_1592206729

1 SubmittersRCV000988823

NM_001844.5(COL2A1):c.1969G>A (p.Gly657Ser)

SNV
Unknown

Chr12:47983709

Likely pathogenic

Stickler syndrome type 1

Criteria Provided
Single Submitter

rs_1269619781

1 SubmittersRCV000988826

NM_001844.5(COL2A1):c.3598-1G>A

SNV
Germline

Chr12:47975606

Pathogenic/Likely pathogenic

Stickler syndrome type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1592196867

2 SubmittersRCV000995717 RCV003708556

NM_001844.5(COL2A1):c.2659C>T (p.Arg887Ter)

SNV
Germline

Chr12:47980029

Pathogenic/Likely pathogenic

Condition: not provided
Stickler syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1399676515

4 SubmittersRCV001008652 RCV002291290

NM_001844.5(COL2A1):c.2909C>T (p.Pro970Leu)

SNV
Germline

Chr12:47978385

Conflicting classifications of pathogenicity

Condition: not provided
Stickler syndrome type 1
Type II Collagenopathies
Connective tissue disorder

Criteria Provided
Conflicting Classifications

rs_371268468

4 SubmittersRCV001041428 RCV001114066 RCV001114067 RCV002276596

NM_001844.5(COL2A1):c.1833+1G>A

SNV
Germline

Chr12:47984994

Pathogenic

Retinal dystrophy
Condition: not provided
Stickler syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1939312423

4 SubmittersRCV001074728 RCV001387557 RCV002290588

NM_001854.4(COL11A1):c.5223G>C (p.Glu1741Asp)

SNV
Germline

Chr1:102879734

Conflicting classifications of pathogenicity

Stickler syndrome type 2
Fibrochondrogenesis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_370598483

2 SubmittersRCV001101562 RCV001101561 RCV003769069

NM_001854.4(COL11A1):c.5169G>A (p.Val1723=)

SNV
Germline

Chr1:102879788

Conflicting classifications of pathogenicity

Fibrochondrogenesis 1
Stickler syndrome type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1649996140

2 SubmittersRCV001096133 RCV001096134 RCV002069624

NM_001854.4(COL11A1):c.2735C>T (p.Pro912Leu)

SNV
Germline

Chr1:102978727

Conflicting classifications of pathogenicity

Stickler syndrome type 2
Fibrochondrogenesis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_192842970

5 SubmittersRCV001101958 RCV001101959 RCV001664688

NM_001854.4(COL11A1):c.2453G>A (p.Arg818Gln)

SNV
Germline

Chr1:102987682

Conflicting classifications of pathogenicity

Fibrochondrogenesis 1
Stickler syndrome type 2
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_142523692

4 SubmittersRCV001096540 RCV001096541 RCV001351829 RCV004032009

NM_001854.4(COL11A1):c.1817C>T (p.Pro606Leu)

SNV
Germline

Chr1:103005866

Conflicting classifications of pathogenicity

Stickler syndrome type 2
Fibrochondrogenesis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_534777436

3 SubmittersRCV001096646 RCV001096647 RCV001760069

NM_001854.4(COL11A1):c.1408G>C (p.Asp470His)

SNV
Germline

Chr1:103017825

Conflicting classifications of pathogenicity

Condition: not provided
Stickler syndrome type 2
Fibrochondrogenesis 1

Criteria Provided
Conflicting Classifications

rs_752749747

3 SubmittersRCV001760072 RCV001098375 RCV001098376

NM_001854.4(COL11A1):c.1341A>G (p.Ala447=)

SNV
Germline

Chr1:103018827

Conflicting classifications of pathogenicity

Stickler syndrome type 2
Fibrochondrogenesis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_372963982

2 SubmittersRCV001100161 RCV001100160 RCV002069686

NM_001854.4(COL11A1):c.1263A>G (p.Ala421=)

SNV
Germline

Chr1:103021752

Conflicting classifications of pathogenicity

Fibrochondrogenesis 1
Stickler syndrome type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_760330151

3 SubmittersRCV001100162 RCV001100163 RCV001732043

NM_001854.4(COL11A1):c.871A>G (p.Thr291Ala)

SNV
Germline

Chr1:103026242

Conflicting classifications of pathogenicity

Fibrochondrogenesis 1
Stickler syndrome type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_778869762

2 SubmittersRCV001096734 RCV001098473 RCV001873470

NM_001854.4(COL11A1):c.511G>A (p.Val171Met)

SNV
Germline

Chr1:103074758

Conflicting classifications of pathogenicity

Fibrochondrogenesis 1
Condition: not provided
Stickler syndrome type 2

Criteria Provided
Conflicting Classifications

rs_751182532

3 SubmittersRCV001100245 RCV001759867 RCV001100246

NM_001854.4(COL11A1):c.478G>A (p.Ala160Thr)

SNV
Germline

Chr1:103078668

Conflicting classifications of pathogenicity

Fibrochondrogenesis 1
Stickler syndrome type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_146954848

4 SubmittersRCV001102229 RCV001102230 RCV001326440

NM_001854.4(COL11A1):c.174G>A (p.Thr58=)

SNV
Germline

Chr1:103082905

Conflicting classifications of pathogenicity

Fibrochondrogenesis 1
Stickler syndrome type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_530441485

2 SubmittersRCV001098583 RCV001098584 RCV003769054

NM_001854.4(COL11A1):c.3384+13T>G

SNV
Germline

Chr1:102940314

Conflicting classifications of pathogenicity

Stickler syndrome type 2
Fibrochondrogenesis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_201970483

3 SubmittersRCV001101860 RCV001101861 RCV001518054

NM_001854.4(COL11A1):c.2394+8T>C

SNV
Germline

Chr1:102989510

Conflicting classifications of pathogenicity

Stickler syndrome type 2
Fibrochondrogenesis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1322783114

2 SubmittersRCV001096544 RCV001098281 RCV003736974

NM_001854.4(COL11A1):c.1845+11T>G

SNV
Germline

Chr1:103005827

Conflicting classifications of pathogenicity

Stickler syndrome type 2
Fibrochondrogenesis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_201513205

2 SubmittersRCV001096644 RCV001096645 RCV002554899

NM_001854.4(COL11A1):c.652-13T>G

SNV
Germline

Chr1:103031257

Conflicting classifications of pathogenicity

Fibrochondrogenesis 1
Stickler syndrome type 2
Condition: not provided
COL11A1-related disorder

Criteria Provided
Conflicting Classifications

rs_776608546

3 SubmittersRCV001100243 RCV001100242 RCV001404907 RCV004545060

NM_001844.5(COL2A1):c.4448C>T (p.Pro1483Leu)

SNV
Germline

Chr12:47973423

Conflicting classifications of pathogenicity

Type II Collagenopathies
Stickler syndrome type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_376442872

3 SubmittersRCV001110554 RCV001112534 RCV001772326

NM_001844.5(COL2A1):c.4350C>T (p.Ile1450=)

SNV
Germline

Chr12:47973521

Conflicting classifications of pathogenicity

Stickler syndrome type 1
Type II Collagenopathies
Condition: not provided
COL2A1-related disorder

Criteria Provided
Conflicting Classifications

rs_137948104

5 SubmittersRCV001112536 RCV001112535 RCV001410869 RCV004538334

NM_001844.5(COL2A1):c.4093A>T (p.Asn1365Tyr)

SNV
Germline

Chr12:47974313

Conflicting classifications of pathogenicity

Type II Collagenopathies
Stickler syndrome type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_202105427

2 SubmittersRCV001109855 RCV001109854 RCV001245820

NM_001844.5(COL2A1):c.3713A>C (p.Tyr1238Ser)

SNV
Germline

Chr12:47975490

Conflicting classifications of pathogenicity

Stickler syndrome type 1
Type II Collagenopathies
Condition: not provided
Connective tissue disorder

Criteria Provided
Conflicting Classifications

rs_199726428

3 SubmittersRCV001113969 RCV001113970 RCV001320848 RCV002276626

NM_001844.5(COL2A1):c.3663C>T (p.Ser1221=)

SNV
Germline

Chr12:47975540

Conflicting classifications of pathogenicity

Stickler syndrome type 1
Type II Collagenopathies
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_2276459

2 SubmittersRCV001113971 RCV001113972 RCV001517493

NM_001844.5(COL2A1):c.3505G>A (p.Val1169Ile)

SNV
Germline

Chr12:47976055

Conflicting classifications of pathogenicity

Type II Collagenopathies
Stickler syndrome type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_760390497

3 SubmittersRCV001109930 RCV001109931 RCV001337220

NM_001844.5(COL2A1):c.3308C>G (p.Ala1103Gly)

SNV
Germline

Chr12:47977121

Conflicting classifications of pathogenicity

Stickler syndrome type 1
Type II Collagenopathies
Intellectual disability
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1180226091

4 SubmittersRCV001110723 RCV001110722 RCV001251955 RCV002556166 RCV002555076

NM_001844.5(COL2A1):c.2805C>T (p.Ser935=)

SNV
Germline

Chr12:47978687

Conflicting classifications of pathogenicity

Stickler syndrome type 1
Type II Collagenopathies
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_948633441

2 SubmittersRCV001110026 RCV001110027 RCV001413346

NM_001844.5(COL2A1):c.1138A>G (p.Thr380Ala)

SNV
Germline

Chr12:47987694

Conflicting classifications of pathogenicity

Type II Collagenopathies
Stickler syndrome type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_748511528

2 SubmittersRCV001110955 RCV001110954 RCV003727861

NM_001844.5(COL2A1):c.778C>T (p.Pro260Ser)

SNV
Germline

Chr12:47994462

Conflicting classifications of pathogenicity

Stickler syndrome type 1
Type II Collagenopathies
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1470645150

2 SubmittersRCV001114316 RCV001114315 RCV003679035

NM_001844.5(COL2A1):c.711T>A (p.Gly237=)

SNV
Germline

Chr12:47995306

Conflicting classifications of pathogenicity

Stickler syndrome type 1
Type II Collagenopathies
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_764487245

2 SubmittersRCV001114317 RCV001114318 RCV002556237

NM_001844.5(COL2A1):c.4074+12G>T

SNV
Germline

Chr12:47974663

Conflicting classifications of pathogenicity

Stickler syndrome type 1
Type II Collagenopathies
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_201312340

3 SubmittersRCV001110643 RCV001110644 RCV001811662

NM_001844.5(COL2A1):c.2410-13T>G

SNV
Germline

Chr12:47981409

Conflicting classifications of pathogenicity

Stickler syndrome type 1
Type II Collagenopathies
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_574507277

2 SubmittersRCV001112797 RCV001112798 RCV002069818

NM_001844.5(COL2A1):c.708+14C>T

SNV
Germline

Chr12:47995696

Conflicting classifications of pathogenicity

Type II Collagenopathies
Stickler syndrome type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_769173275

2 SubmittersRCV001110296 RCV001110295 RCV001415618

NM_001854.4(COL11A1):c.3115G>A (p.Gly1039Ser)

SNV
Unknown

Chr1:102961919

Likely pathogenic

Stickler syndrome type 2
Marshall syndrome

Criteria Provided
Single Submitter

rs_764282256

1 SubmittersRCV001257086

NM_001851.6(COL9A1):c.352C>T (p.Arg118Ter)

SNV
Germline

Chr6:70294511

Conflicting classifications of pathogenicity

Stickler syndrome, type 4
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_147237457

2 SubmittersRCV001196482 RCV001876273

NM_001854.4(COL11A1):c.281C>T (p.Thr94Ile)

SNV
Germline

Chr1:103078865

Conflicting classifications of pathogenicity

Marshall syndrome
Stickler syndrome type 2
Fibrochondrogenesis 1
Condition: not provided
COL11A1-related disorder

Criteria Provided
Conflicting Classifications

rs_1283924469

5 SubmittersRCV001249437 RCV001587283 RCV004528439

NM_001854.4(COL11A1):c.1168G>T (p.Glu390Ter)

SNV
Germline

Chr1:103022819

Likely pathogenic

Stickler syndrome type 2
Marshall syndrome
Fibrochondrogenesis 1

Criteria Provided
Single Submitter

rs_1667208458

1 SubmittersRCV001249607

NM_001844.5(COL2A1):c.2862C>T (p.Gly954=)

SNV
Germline

Chr12:47978630

Pathogenic/Likely pathogenic

Stickler syndrome type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_367806541

8 SubmittersRCV002294450 RCV001269946

NM_001844.5(COL2A1):c.2059G>A (p.Gly687Ser)

SNV
Germline

Chr12:47983128

Pathogenic/Likely pathogenic

Condition: not provided
Spondyloepiphyseal dysplasia with metatarsal shortening
Stickler syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1939189846

6 SubmittersRCV001270004 RCV001332046 RCV003989668

NM_001854.4(COL11A1):c.1684-1G>C

SNV
Unknown

Chr1:103006316

Likely pathogenic

Stickler syndrome type 2

Criteria Provided
Single Submitter

rs_1665610030

1 SubmittersRCV001330656

NM_001854.4(COL11A1):c.1245+1G>A

SNV
Germline

Chr1:103022741

Pathogenic/Likely pathogenic

Condition: not provided
Intervertebral disc disorder
Fibrochondrogenesis 1
Marshall syndrome
Hearing loss, autosomal dominant 37
Stickler syndrome type 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_766849561

4 SubmittersRCV001780801 RCV002503269

NM_001844.5(COL2A1):c.2050G>T (p.Gly684Cys)

SNV
Germline

Chr12:47983137

Conflicting classifications of pathogenicity

Stickler syndrome type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1231988113

2 SubmittersRCV001333975 RCV002546662

NM_001854.4(COL11A1):c.3692G>T (p.Gly1231Val)

SNV
Germline

Chr1:102921534

Conflicting classifications of pathogenicity

Condition: not provided
Fibrochondrogenesis 1
Marshall syndrome
Stickler syndrome type 2
Hearing loss, autosomal dominant 37
Intervertebral disc disorder

Criteria Provided
Conflicting Classifications

rs_750291363

3 SubmittersRCV001341960 RCV001535998

NM_001852.4(COL9A2):c.1510C>T (p.Arg504Ter)

SNV
Germline

Chr1:40303568

Pathogenic/Likely pathogenic

Stickler syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_781682527

2 SubmittersRCV001375166 RCV003771213

NM_001844.5(COL2A1):c.1364C>T (p.Thr455Met)

SNV
Germline

Chr12:47987079

Conflicting classifications of pathogenicity

Stickler syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_775754967

4 SubmittersRCV001375161 RCV001568263

NM_001384474.1(LOXHD1):c.2308G>A (p.Val770Ile)

SNV
Germline

Chr18:46566386

Conflicting classifications of pathogenicity

Stickler syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_754651566

3 SubmittersRCV001375237 RCV002070248 RCV002550209

NM_001844.5(COL2A1):c.2806G>A (p.Gly936Ser)

SNV
Germline

Chr12:47978686

Conflicting classifications of pathogenicity

Condition: not provided
Stickler syndrome type 1

Criteria Provided
Conflicting Classifications

rs_777615798

2 SubmittersRCV001377044 RCV002286578

NM_001844.5(COL2A1):c.3490G>A (p.Gly1164Ser)

SNV
Germline

Chr12:47976070

Pathogenic

Condition: not provided
Stickler syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_2136514646

2 SubmittersRCV001382420 RCV002246366

NM_001844.5(COL2A1):c.2094+1G>C

SNV
Germline

Chr12:47983092

Pathogenic

Condition: not provided
Stickler syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_2136552560

2 SubmittersRCV001385790 RCV003493854

NM_001854.4(COL11A1):c.4186G>T (p.Gly1396Cys)

SNV
Unknown

Chr1:102898728

Likely pathogenic

Intervertebral disc disorder
Stickler syndrome type 2
Hearing loss, autosomal dominant 37
Fibrochondrogenesis 1
Marshall syndrome

Criteria Provided
Single Submitter

rs_763199410

1 SubmittersRCV001535915

NM_001854.4(COL11A1):c.2755-2A>G

SNV
Germline

Chr1:102974885

Pathogenic

Stickler syndrome type 2
Condition: not provided

Criteria Provided
Single Submitter

rs_2101653580

2 SubmittersRCV001542538 RCV001581183

NM_001844.5(COL2A1):c.2464G>A (p.Gly822Ser)

SNV
Germline

Chr12:47980968

Likely pathogenic

Stickler syndrome type 1

Criteria Provided
Single Submitter

rs_2136539942

1 SubmittersRCV001564047

NM_001844.5(COL2A1):c.1826G>T (p.Gly609Val)

SNV
Germline

Chr12:47985002

Likely pathogenic

Stickler syndrome type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_140580674

2 SubmittersRCV001564048 RCV001865988

NM_001854.4(COL11A1):c.3068C>A (p.Ala1023Glu)

SNV
Germline

Chr1:102962222

Conflicting classifications of pathogenicity

Condition: not provided
Marshall syndrome
Intervertebral disc disorder
Stickler syndrome type 2
Fibrochondrogenesis 1
Hearing loss, autosomal dominant 37
COL11A1-related disorder

Criteria Provided
Conflicting Classifications

rs_1040168773

4 SubmittersRCV001574783 RCV002495920 RCV004536209

NM_001844.5(COL2A1):c.3896G>A (p.Trp1299Ter)

SNV
Germline

Chr12:47974853

Pathogenic

Stickler syndrome type 1
Condition: not provided
COL2A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_2136508909

3 SubmittersRCV001591924 RCV003234087 RCV004528523

NM_001854.4(COL11A1):c.2513G>A (p.Gly838Glu)

SNV
Germline

Chr1:102984181

Pathogenic/Likely pathogenic

Condition: not provided
Hearing loss, autosomal dominant 37
Marshall syndrome
Stickler syndrome type 2
Fibrochondrogenesis 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_372419698

3 SubmittersRCV001587154 RCV001825009

NM_001844.5(COL2A1):c.1887+1G>A

SNV
Germline

Chr12:47984545

Pathogenic

Stickler syndrome type 1

Criteria Provided
Single Submitter

rs_2136561510

1 SubmittersRCV001731124

NM_001854.4(COL11A1):c.2644C>T (p.Arg882Cys)

SNV
Germline

Chr1:102979071

Conflicting classifications of pathogenicity

Condition: not provided
Marshall syndrome
Stickler syndrome type 2
Fibrochondrogenesis 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_749003514

4 SubmittersRCV001733091 RCV002508964 RCV004040036

NM_001844.5(COL2A1):c.4317+1G>T

SNV
Germline

Chr12:47974088

Pathogenic

Stickler syndrome type 1

Criteria Provided
Single Submitter

rs_2136504667

1 SubmittersRCV001787272

NM_001844.5(COL2A1):c.4074+1G>A

SNV
Germline

Chr12:47974674

Pathogenic

Stickler syndrome type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2136507956

2 SubmittersRCV001787274 RCV002541256

NM_001844.5(COL2A1):c.3280C>T (p.Gln1094Ter)

SNV
Germline

Chr12:47977149

Pathogenic

Stickler syndrome type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2136520087

3 SubmittersRCV001814855 RCV001869629

NM_001854.4(COL11A1):c.2285G>A (p.Arg762Gln)

SNV
Germline

Chr1:102995999

Conflicting classifications of pathogenicity

Condition: not provided
Fibrochondrogenesis 1
Intervertebral disc disorder
Marshall syndrome
Hearing loss, autosomal dominant 37
Stickler syndrome type 2

Criteria Provided
Conflicting Classifications

rs_758825857

3 SubmittersRCV001878497 RCV002478131

NM_001851.6(COL9A1):c.14G>A (p.Trp5Ter)

SNV
Germline

Chr6:70302911

Pathogenic

Condition: not provided
Stickler syndrome, type 4
Epiphyseal dysplasia, multiple, 6

Criteria Provided
Multiple Submitters
No Conflicts

rs_770789859

2 SubmittersRCV001878070 RCV002482695

NM_001854.4(COL11A1):c.4709T>C (p.Leu1570Pro)

SNV
Germline

Chr1:102886956

Conflicting classifications of pathogenicity

Condition: not provided
Intervertebral disc disorder
Stickler syndrome type 2
Hearing loss, autosomal dominant 37
Fibrochondrogenesis 1
Marshall syndrome
COL11A1-related disorder

Criteria Provided
Conflicting Classifications

rs_558265763

4 SubmittersRCV001940346 RCV002491900 RCV004538616

NM_001854.4(COL11A1):c.3276+5G>A

SNV
Germline

Chr1:102946844

Conflicting classifications of pathogenicity

Condition: not provided
Stickler syndrome type 2

Criteria Provided
Conflicting Classifications

rs_2101406246

3 SubmittersRCV002045357 RCV003453951

NM_001844.5(COL2A1):c.1513C>T (p.Pro505Ser)

SNV
Germline

Chr12:47986350

Conflicting classifications of pathogenicity

Condition: not provided
Stickler syndrome type 1
Spondyloepiphyseal dysplasia congenita

Criteria Provided
Conflicting Classifications

rs_865903887

3 SubmittersRCV001945651 RCV003339826 RCV003444066

NM_001844.5(COL2A1):c.2609G>A (p.Gly870Glu)

SNV
Germline

Chr12:47980570

Pathogenic/Likely pathogenic

Condition: not provided
Stickler syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_886041429

2 SubmittersRCV002003098 RCV002246638

NM_001844.5(COL2A1):c.3436-1G>A

SNV
Germline

Chr12:47976568

Pathogenic/Likely pathogenic

Condition: not provided
Stickler syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_2136516942

2 SubmittersRCV002023134 RCV004565180

NM_001844.5(COL2A1):c.1258G>T (p.Gly420Ter)

SNV
Germline

Chr12:47987277

Pathogenic

Stickler syndrome type 1

Criteria Provided
Single Submitter

1 SubmittersRCV002471749

NM_001853.4(COL9A3):c.268C>T (p.Arg90Ter)

SNV
Germline

Chr20:62819941

Pathogenic

Stickler syndrome
Stickler syndrome, IIa 6
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_763259234

3 SubmittersRCV002238720 RCV002279980 RCV003093927

NM_001853.4(COL9A3):c.1729C>T (p.Arg577Ter)

SNV
Germline

Chr20:62837208

Pathogenic/Likely pathogenic

Stickler syndrome
Stickler syndrome, IIa 6
Epiphyseal dysplasia, multiple, 3
Intervertebral disc disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1201247953

5 SubmittersRCV002238721 RCV002279981 RCV002502051 RCV003093928

NM_001844.5(COL2A1):c.2519G>A (p.Gly840Asp)

SNV
Germline

Chr12:47980660

Likely pathogenic

Stickler syndrome type 1

Criteria Provided
Single Submitter

rs_2136538046

1 SubmittersRCV002249000

NM_001844.5(COL2A1):c.1646G>A (p.Gly549Asp)

SNV
Germline

Chr12:47985762

Likely pathogenic

Stickler syndrome type 1

Criteria Provided
Single Submitter

rs_2136567807

1 SubmittersRCV002249002

NM_001844.5(COL2A1):c.1484G>A (p.Gly495Glu)

SNV
Germline

Chr12:47986379

Likely pathogenic

Stickler syndrome type 1

Criteria Provided
Single Submitter

rs_2136571080

1 SubmittersRCV002249003

NM_001844.5(COL2A1):c.4171T>C (p.Tyr1391His)

SNV
Germline

Chr12:47974235

Pathogenic

Stickler syndrome type 1

Criteria Provided
Single Submitter

rs_2136505595

1 SubmittersRCV002249377

NM_001844.5(COL2A1):c.1492G>C (p.Gly498Arg)

SNV
Germline

Chr12:47986371

Pathogenic

Stickler syndrome type 1

Criteria Provided
Single Submitter

rs_2136571005

1 SubmittersRCV002249379

NM_001844.5(COL2A1):c.737G>T (p.Gly246Val)

SNV
Germline

Chr12:47995280

Pathogenic

Stickler syndrome type 1

Criteria Provided
Single Submitter

rs_2136616311

1 SubmittersRCV002249380

NM_001854.4(COL11A1):c.2916+1G>A

SNV
Germline

Chr1:102965486

Pathogenic/Likely pathogenic

Stickler syndrome type 2
Condition: not provided
COL11A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_2101595036

3 SubmittersRCV002250987 RCV003094077 RCV004533996

NM_001854.4(COL11A1):c.3276+1G>C

SNV
Germline

Chr1:102946848

Likely pathogenic

Stickler syndrome type 2

Criteria Provided
Single Submitter

rs_2101406339

1 SubmittersRCV002272626

NM_001853.4(COL9A3):c.1204C>T (p.Arg402Ter)

SNV
Germline

Chr20:62830402

Pathogenic

Stickler syndrome, IIa 6
Condition: not provided

Criteria Provided
Single Submitter

2 SubmittersRCV002280060 RCV003774919

NM_001844.5(COL2A1):c.610-2A>T

SNV
Germline

Chr12:47995921

Likely pathogenic

Stickler syndrome type 1

Criteria Provided
Single Submitter

1 SubmittersRCV002283666

NM_001844.5(COL2A1):c.2895+1G>C

SNV
Germline

Chr12:47978596

Pathogenic

Stickler syndrome type 1

Criteria Provided
Single Submitter

1 SubmittersRCV002286619

NM_001854.4(COL11A1):c.1676G>A (p.Gly559Asp)

SNV
Germline

Chr1:103008470

Conflicting classifications of pathogenicity

Stickler syndrome type 2
COL11A1-related disorder

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002288378 RCV004529122

NM_001844.5(COL2A1):c.1966C>T (p.Gln656Ter)

SNV
Germline

Chr12:47983712

Likely pathogenic

Stickler syndrome type 1

Criteria Provided
Single Submitter

1 SubmittersRCV002290174

NM_001844.5(COL2A1):c.429+2T>G

SNV
Germline

Chr12:47997869

Likely pathogenic

Stickler syndrome type 1

Criteria Provided
Single Submitter

1 SubmittersRCV002290202

NM_001844.5(COL2A1):c.388G>T (p.Glu130Ter)

SNV
Germline

Chr12:47997912

Likely pathogenic

Stickler syndrome type 1

Criteria Provided
Single Submitter

1 SubmittersRCV002290288

NM_001844.5(COL2A1):c.293-2A>T

SNV
Germline

Chr12:47998433

Likely pathogenic

Stickler syndrome type 1

No Assertion Criteria Provided

1 SubmittersRCV002291186

NM_001844.5(COL2A1):c.1420-1G>A

SNV
Germline

Chr12:47986444

Pathogenic

Stickler syndrome, type I, nonsyndromic ocular
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002466863 RCV002571405

NM_001844.5(COL2A1):c.1396G>T (p.Glu466Ter)

SNV
Germline

Chr12:47986858

Pathogenic

Stickler syndrome type 1

Criteria Provided
Single Submitter

1 SubmittersRCV002471635

NM_001844.5(COL2A1):c.925-1G>A

SNV
Germline

Chr12:47993503

Pathogenic

Stickler syndrome type 1

Criteria Provided
Single Submitter

1 SubmittersRCV002471691

NM_001844.5(COL2A1):c.2625+2T>C

SNV
Germline

Chr12:47980552

Likely pathogenic

Stickler syndrome type 1

Criteria Provided
Single Submitter

1 SubmittersRCV002471804

NM_001844.5(COL2A1):c.565G>T (p.Glu189Ter)

SNV
Germline

Chr12:47996592

Pathogenic

Stickler syndrome, type I, nonsyndromic ocular

Criteria Provided
Single Submitter

1 SubmittersRCV002471956

NM_001844.5(COL2A1):c.1527+1G>A

SNV
Germline

Chr12:47986335

Likely pathogenic

Stickler syndrome, type I, nonsyndromic ocular

Criteria Provided
Single Submitter

1 SubmittersRCV002472045

NM_001844.5(COL2A1):c.661C>T (p.Gln221Ter)

SNV
Germline

Chr12:47995757

Conflicting classifications of pathogenicity

Condition: not provided
Stickler syndrome type 1

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002862651 RCV003151422

NM_001844.5(COL2A1):c.2158G>A (p.Gly720Ser)

SNV
Germline

Chr12:47982883

Conflicting classifications of pathogenicity

Condition: not provided
Stickler syndrome type 1

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003050291 RCV003989800

NM_001854.4(COL11A1):c.3512G>A (p.Gly1171Asp)

SNV
Germline

Chr1:102934537

Likely pathogenic

Stickler syndrome type 2

Criteria Provided
Single Submitter

1 SubmittersRCV003330334

NM_001844.5(COL2A1):c.655-2A>G

SNV
Germline

Chr12:47995765

Pathogenic

Stickler syndrome type 1

No Assertion Criteria Provided

1 SubmittersRCV003388641

NM_001851.6(COL9A1):c.1450-1G>T

SNV
Germline

Chr6:70256822

Likely pathogenic

Stickler syndrome, type 4

Criteria Provided
Single Submitter

1 SubmittersRCV003447689

NM_001854.4(COL11A1):c.3762+2T>C

SNV
Unknown

Chr1:102920309

Likely pathogenic

Stickler syndrome type 2

Criteria Provided
Single Submitter

1 SubmittersRCV003482200

NM_001854.4(COL11A1):c.2702G>A (p.Gly901Glu)

SNV
Germline

Chr1:102978867

Likely pathogenic

Stickler syndrome type 2

Criteria Provided
Single Submitter

1 SubmittersRCV003988754

NM_001844.5(COL2A1):c.1527+1G>C

SNV
Germline

Chr12:47986335

Likely pathogenic

Stickler syndrome type 1

Criteria Provided
Single Submitter

1 SubmittersRCV003994720

NM_001854.4(COL11A1):c.1951C>T (p.Arg651Ter)

SNV
Germline

Chr1:103003262

Likely pathogenic

Marshall syndrome
Stickler syndrome type 2

Criteria Provided
Single Submitter

1 SubmittersRCV004556009