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 Stickler syndrome	Criteria Provided Multiple Submitters No Conflicts	CA281739	rs_121912866	6 SubmittersRCV000018899 RCV000726311 RCV006439577
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 Spondyloepimetaphyseal dysplasia, Strudwick type Connective tissue disorder Stickler syndrome type 1 Namaqualand hip dysplasia Type 2 collagenopathy Inborn genetic diseases COL2A1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA250671	rs_121912870	14 SubmittersRCV000018905 RCV000484896 RCV001729352 RCV002276564 RCV002247358 RCV002272023 RCV003320353 RCV005318312 RCV005867784
NM_001844.5(COL2A1):c.800G>A (p.Gly267Asp)	SNV Germline	Chr12:47994440	Pathogenic	Stickler syndrome, type I, nonsyndromic ocular Condition: not provided	Criteria Provided Single Submitter	CA127156	rs_121912872	2 SubmittersRCV000018908 RCV006461178
NM_001844.5(COL2A1):c.823C>T (p.Arg275Cys)	SNV Germline	Chr12:47994041	Pathogenic	Spondyloepiphyseal dysplasia with metatarsal shortening Stickler syndrome type 1 Condition: not provided Achondrogenesis type II Acetabular dysplasia	Criteria Provided Multiple Submitters No Conflicts	CA127158	rs_121912876	9 SubmittersRCV000018912 RCV000988828 RCV001385337 RCV003323361 RCV003228897
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	CA384552989	rs_794727377	3 SubmittersRCV000018913 RCV002247359 RCV002513112
NM_001844.5(COL2A1):c.908G>A (p.Gly303Asp)	SNV Germline	Chr12:47993825	Pathogenic	Kniest dysplasia Condition: not provided Stickler syndrome	Criteria Provided Multiple Submitters No Conflicts	CA127160	rs_121912877	4 SubmittersRCV000018914 RCV000724305 RCV006436389
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	CA384554296	rs_2136577259	3 SubmittersRCV000018917 RCV002513113
NM_001844.5(COL2A1):c.1510G>T (p.Gly504Cys)	SNV Germline	Chr12:47986353	Conflicting classifications of pathogenicity	Condition: not provided Stickler syndrome type 1 Spondyloepimetaphyseal dysplasia, Strudwick type	Criteria Provided Conflicting Classifications	CA250682	rs_121912880	3 SubmittersRCV000380315 RCV005859469 RCV002509164
NM_001844.5(COL2A1):c.2710C>T (p.Arg904Cys)	SNV Germline	Chr12:47979534	Pathogenic	Multiple epiphyseal dysplasia, Beighton type Myopia Condition: not provided Stickler syndrome type 1	Criteria Provided Multiple Submitters No Conflicts	CA127163	rs_121912882	9 SubmittersRCV000018922 RCV000414959 RCV000513905 RCV004595885
NM_001844.5(COL2A1):c.1680+1G>A	SNV Germline	Chr12:47985727	Pathogenic	Stickler syndrome type 1 Condition: not provided	Criteria Provided Single Submitter	CA384551312	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 Achondrogenesis type II Retinal dystrophy Stickler syndrome, type I, nonsyndromic ocular COL2A1-related disorder Stickler syndrome 15 conditions	Criteria Provided Multiple Submitters No Conflicts	CA281746	rs_121912884	15 SubmittersRCV000018926 RCV000413561 RCV001197973 RCV001074673 RCV001807733 RCV004528123 RCV006277651 RCV006261722
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 Stickler syndrome Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA127176	rs_121912893	9 SubmittersRCV000018938 RCV000018939 RCV000481275 RCV000762896 RCV004689424 RCV004975261
NM_001844.5(COL2A1):c.709-2A>G	SNV Germline	Chr12:47995310	Pathogenic	Stickler syndrome type 1 Condition: not provided	Criteria Provided Single Submitter	CA384523481	rs_1592232116	2 SubmittersRCV000018942 RCV005647965
NM_001844.5(COL2A1):c.3886+2T>C	SNV Germline	Chr12:47975315	Pathogenic	Stickler syndrome, type I, nonsyndromic ocular	No Assertion Criteria Provided	CA384536253	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 Stickler syndrome	Criteria Provided Multiple Submitters No Conflicts	CA127183	rs_121912897	8 SubmittersRCV000018945 RCV000657640 RCV002470714 RCV004532390 RCV006277652
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 COL11A1-related disorder Stickler syndrome type 2	Criteria Provided Multiple Submitters No Conflicts	CA281108	rs_398122828	10 SubmittersRCV000032995 RCV000579344 RCV000623510 RCV003313929 RCV002468558
NM_001844.5(COL2A1):c.4064G>A (p.Gly1355Asp)	SNV Germline	Chr12:47974685	Conflicting classifications of pathogenicity	Condition: not provided Stickler syndrome type 1 Inborn genetic diseases Type 2 collagenopathy	Criteria Provided Conflicting Classifications	CA221742	rs_201646745	5 SubmittersRCV000079727 RCV000283561 RCV003242977 RCV006456686
NM_001854.4(COL11A1):c.215C>G (p.Thr72Ser)	SNV Germline	Chr1:103082864	Conflicting classifications of pathogenicity	Condition: not provided Stickler syndrome type 2 Fibrochondrogenesis 1 Skeletal dysplasia	Criteria Provided Conflicting Classifications	CA221845	rs_56230601	5 SubmittersRCV000079907 RCV000269415 RCV000329141 RCV005625277
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_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 not specified	Criteria Provided Conflicting Classifications	CA233798	rs_147637674	7 SubmittersRCV000313074 RCV000349030 RCV000680458 RCV000723756 RCV006268631
NM_001852.4(COL9A2):c.1576G>A (p.Val526Met)	SNV Germline	Chr1:40303158	Conflicting classifications of pathogenicity	Condition: not provided Stickler syndrome, type 5 COL9A2-related disorder not specified	Criteria Provided Conflicting Classifications	CA243036	rs_141556170	6 SubmittersRCV000176927 RCV001507016 RCV004739559 RCV006263719
NM_001844.5(COL2A1):c.1962C>T (p.Gly654=)	SNV Germline	Chr12:47983716	Conflicting classifications of pathogenicity	Condition: not provided Stickler syndrome COL2A1-related disorder 15 conditions	Criteria Provided Conflicting Classifications	CA243640	rs_794727533	6 SubmittersRCV000177457 RCV006436689 RCV004734793 RCV006261740
NM_001844.5(COL2A1):c.2286G>A (p.Gly762=)	SNV Germline	Chr12:47982517	Conflicting classifications of pathogenicity	Condition: not provided Stickler syndrome type 1 Type 2 collagenopathy	Criteria Provided Conflicting Classifications	CA244668	rs_371835359	3 SubmittersRCV000177768 RCV000382831 RCV006456785
NM_001844.5(COL2A1):c.2680-9C>T	SNV Germline	Chr12:47979573	Conflicting classifications of pathogenicity	Condition: not provided Stickler syndrome type 1 COL2A1-related disorder Type 2 collagenopathy	Criteria Provided Conflicting Classifications	CA245565	rs_369022247	5 SubmittersRCV000723611 RCV001110028 RCV004537465 RCV006456787
NM_001844.5(COL2A1):c.3106C>T (p.Arg1036Ter)	SNV Germline	Chr12:47978015	Pathogenic	Condition: not provided Stickler syndrome type 1 Stickler syndrome	Criteria Provided Multiple Submitters No Conflicts	CA303000	rs_748459670	8 SubmittersRCV000479858 RCV000988819 RCV006439709
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 Marshall syndrome Fibrochondrogenesis 1 Stickler syndrome type 2 not specified	Criteria Provided Conflicting Classifications	CA246297	rs_150669855	9 SubmittersRCV000179067 RCV000303130 RCV000395394 RCV002508926 RCV004700543
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	8 SubmittersRCV000179579 RCV000306668 RCV000364746 RCV000897631 RCV004020151
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 not specified	Criteria Provided Conflicting Classifications	CA246966	rs_140250347	11 SubmittersRCV000179660 RCV000271060 RCV000357636 RCV000680455 RCV001262338 RCV004539684 RCV006268653
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 Marshall syndrome Fibrochondrogenesis 1 Intervertebral disc disorder Stickler syndrome type 2 Hearing loss, autosomal dominant 37	Criteria Provided Conflicting Classifications	CA247139	rs_183130583	8 SubmittersRCV000179833 RCV001102150 RCV001102151 RCV003488432 RCV004539687 RCV005031715
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_001844.5(COL2A1):c.2574C>T (p.Gly858=)	SNV Germline	Chr12:47980605	Conflicting classifications of pathogenicity	not specified Connective tissue disorder Condition: not provided Stickler syndrome type 1 Type 2 collagenopathy Melanoma	Criteria Provided Conflicting Classifications	CA6535052	rs_141423593	12 SubmittersRCV000239357 RCV000659400 RCV000959727 RCV001110809 RCV006456888 RCV005891009
NM_001854.4(COL11A1):c.3277-13A>C	SNV Germline	Chr1:102940447	Conflicting classifications of pathogenicity	not specified Fibrochondrogenesis 1 Stickler syndrome type 2 Connective tissue disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA974068	rs_371455495	6 SubmittersRCV000242571 RCV000264812 RCV000322167 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 2 collagenopathy	Criteria Provided Conflicting Classifications	CA6534943	rs_201719788	5 SubmittersRCV000249904 RCV000918676 RCV001114065 RCV006456901
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	9 SubmittersRCV000254258 RCV000894899 RCV000988827 RCV003320624
NM_001844.5(COL2A1):c.544C>T (p.Gln182Ter)	SNV Germline	Chr12:47996613	Pathogenic	Condition: not provided Stickler syndrome type 1	Criteria Provided Multiple Submitters No Conflicts	CA10603196	rs_886041843	3 SubmittersRCV000405387 RCV005863080
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_001851.6(COL9A1):c.1634G>A (p.Arg545His)	SNV Germline	Chr6:70254994	Conflicting classifications of pathogenicity	Condition: not provided Stickler syndrome, type 4 Epiphyseal dysplasia, multiple, 6 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3882097	rs_145698301	6 SubmittersRCV000344967 RCV000764653 RCV002518868
NM_001844.5(COL2A1):c.3574C>T (p.Arg1192Ter)	SNV Germline	Chr12:47975986	Pathogenic	Condition: not provided Spondyloepiphyseal dysplasia congenita COL2A1-related disorder Stickler syndrome type 1	Criteria Provided Multiple Submitters No Conflicts	CA10604522	rs_886042651	6 SubmittersRCV000357221 RCV001849362 RCV004734925 RCV005869209
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 COL2A1-related disorder not specified Type 2 collagenopathy	Criteria Provided Conflicting Classifications	CA6536076	rs_202210896	9 SubmittersRCV000659384 RCV000725382 RCV001114415 RCV004535312 RCV005238832 RCV006456928
NM_001851.6(COL9A1):c.2585A>C (p.Asp862Ala)	SNV Germline	Chr6:70217078	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases COL9A1-related disorder Stickler syndrome Uterine corpus endometrial carcinoma	Criteria Provided Conflicting Classifications	CA3881713	rs_202176764	9 SubmittersRCV000360027 RCV002518942 RCV003930102 RCV005365224 RCV005895668
NM_001844.5(COL2A1):c.1634A>G (p.Asn545Ser)	SNV Germline	Chr12:47985774	Conflicting classifications of pathogenicity	Condition: not provided Stickler syndrome type 1 Type 2 collagenopathy	Criteria Provided Conflicting Classifications	CA6535435	rs_145042175	7 SubmittersRCV000322902 RCV000373035 RCV006456933
NM_001844.5(COL2A1):c.3311G>A (p.Gly1104Glu)	SNV Germline	Chr12:47977118	Pathogenic/Likely pathogenic	Condition: not provided Spondyloperipheral dysplasia Stickler syndrome type 1	Criteria Provided Multiple Submitters No Conflicts	CA10605424	rs_886043356	3 SubmittersRCV000377732 RCV003152704 RCV000988818
NM_001844.5(COL2A1):c.2353C>T (p.Arg785Ter)	SNV Germline	Chr12:47982109	Pathogenic	Condition: not provided Stickler syndrome type 1 Stickler syndrome type 1 Stickler syndrome, type I, nonsyndromic ocular	Criteria Provided Multiple Submitters No Conflicts	CA10605488	rs_886043410	5 SubmittersRCV000579307 RCV003380537 RCV004796151
NM_001844.5(COL2A1):c.3786C>G (p.Leu1262=)	SNV Germline	Chr12:47975417	Conflicting classifications of pathogenicity	Stickler syndrome type 1 Connective tissue disorder Type 2 collagenopathy Condition: not provided COL2A1-related disorder	Criteria Provided Conflicting Classifications	CA6534642	rs_139114389	7 SubmittersRCV000313638 RCV000659407 RCV006456945 RCV000726063 RCV004535396
NM_001854.4(COL11A1):c.2322G>A (p.Lys774=)	SNV Germline	Chr1:102995882	Conflicting classifications of pathogenicity	Fibrochondrogenesis 1 Condition: not provided Stickler syndrome type 2	Criteria Provided Conflicting Classifications	CA974486	rs_140608161	4 SubmittersRCV000364378 RCV000726319 RCV000396413
NM_001854.4(COL11A1):c.3639G>A (p.Gly1213=)	SNV Germline	Chr1:102923351	Conflicting classifications of pathogenicity	Fibrochondrogenesis 1 not specified Condition: not provided Stickler syndrome type 2	Criteria Provided Conflicting Classifications	CA973919	rs_143651470	7 SubmittersRCV000287252 RCV000343729 RCV000726358 RCV000342326
NM_001854.4(COL11A1):c.4554+1G>C	SNV Germline	Chr1:102888722	Pathogenic/Likely pathogenic	Condition: not provided Neurodevelopmental disorder Stickler syndrome type 2	Criteria Provided Multiple Submitters No Conflicts	CA10606524	rs_886044244	4 SubmittersRCV000301688 RCV001778881 RCV004767219
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	4 SubmittersRCV000265566 RCV000361283 RCV002061149
NM_001854.4(COL11A1):c.*17A>G	SNV Germline	Chr1:102878002	Conflicting classifications of pathogenicity	Fibrochondrogenesis 1 Condition: not provided Stickler syndrome type 2 not specified	Criteria Provided Conflicting Classifications	CA973235	rs_190728953	3 SubmittersRCV000312598 RCV001705438 RCV000394113 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 not specified Condition: not provided COL11A1-related disorder	Criteria Provided Conflicting Classifications	CA974003	rs_375675171	6 SubmittersRCV000348216 RCV000406086 RCV006263838 RCV001590910 RCV004737427
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	3 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 Fibrochondrogenesis 1 Hearing loss, autosomal dominant 37 Marshall syndrome Intervertebral disc disorder Stickler syndrome type 2 COL11A1-related disorder	Criteria Provided Conflicting Classifications	CA973631	rs_200496207	11 SubmittersRCV000368686 RCV000393287 RCV000488030 RCV002519362 RCV002480062 RCV004737426
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	7 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 Condition: not provided COL11A1-related disorder not specified Meniere disease Fibrochondrogenesis 1 Connective tissue disorder	Criteria Provided Conflicting Classifications	CA975481	rs_141978499	11 SubmittersRCV000351685 RCV000513856 RCV004537629 RCV005431600 RCV004567844 RCV000404285 RCV000680462
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 not specified	Criteria Provided Conflicting Classifications	CA974721	rs_199875795	3 SubmittersRCV000290623 RCV000393400 RCV001859737 RCV004689707
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 COL11A1-related disorder Meniere disease	Criteria Provided Conflicting Classifications	CA974978	rs_149558726	6 SubmittersRCV000275597 RCV000330638 RCV000494431 RCV004737428 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 not specified	Criteria Provided Conflicting Classifications	CA975398	rs_779282500	5 SubmittersRCV000324984 RCV000384258 RCV001859739 RCV003258737 RCV005238863
NM_001854.4(COL11A1):c.898-15T>C	SNV Germline	Chr1:103025628	Conflicting classifications of pathogenicity	Fibrochondrogenesis 1 Stickler syndrome type 2 not specified Connective tissue disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA975201	rs_200242905	5 SubmittersRCV000315727 RCV000374868 RCV000615388 RCV000659308 RCV002059316
NM_001854.4(COL11A1):c.3788C>T (p.Pro1263Leu)	SNV Germline	Chr1:102915659	Conflicting classifications of pathogenicity	Stickler syndrome type 2 Fibrochondrogenesis 1 Intervertebral disc disorder Stickler syndrome type 2 Hearing loss, autosomal dominant 37 Fibrochondrogenesis 1 Marshall syndrome 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 not specified	Criteria Provided Conflicting Classifications	CA974092	rs_144562769	6 SubmittersRCV000291280 RCV000343870 RCV001823132 RCV003228921 RCV005418060
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 Fibrochondrogenesis 1 Hearing loss, autosomal dominant 37 Marshall syndrome Intervertebral disc disorder Stickler syndrome type 2	Criteria Provided Conflicting Classifications	CA974667	rs_201849355	4 SubmittersRCV000317432 RCV000378977 RCV001409133 RCV005033856
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 Retinal dystrophy Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA975293	rs_199539580	5 SubmittersRCV000321904 RCV000376489 RCV004816520 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 Connective tissue disorder not specified Meniere disease Condition: not provided	Criteria Provided Conflicting Classifications	CA975345	rs_141304474	6 SubmittersRCV000287951 RCV000403940 RCV002278329 RCV004525918 RCV004567843 RCV001660560
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 Stickler syndrome, type 5 Condition: not provided COL9A2-related disorder Epiphyseal dysplasia, multiple, 2 not specified Malignant tumor of esophagus	Criteria Provided Conflicting Classifications	CA791455	rs_373264436	8 SubmittersRCV000763903 RCV001315749 RCV003940120 RCV000372533 RCV000478668 RCV005891695
NM_001852.4(COL9A2):c.1123C>G (p.Arg375Gly)	SNV Germline	Chr1:40304832	Conflicting classifications of pathogenicity	Epiphyseal dysplasia, multiple, 2 Epiphyseal dysplasia, multiple, 2 Stickler syndrome, type 5 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA791577	rs_375476174	5 SubmittersRCV000360126 RCV000509212 RCV000498672 RCV002520489
NM_001851.6(COL9A1):c.902C>T (p.Pro301Leu)	SNV Germline	Chr6:70281014	Conflicting classifications of pathogenicity	Condition: not provided Hearing impairment Stickler syndrome, type 4 Connective tissue disorder COL9A1-related disorder not specified	Criteria Provided Conflicting Classifications	CA3882594	rs_192047082	8 SubmittersRCV000991647 RCV001375076 RCV003447524 RCV002278615 RCV003950271 RCV004767244
NM_001844.5(COL2A1):c.4250A>G (p.Asn1417Ser)	SNV Germline	Chr12:47974156	Conflicting classifications of pathogenicity	Stickler syndrome type 1 Condition: not provided Type 2 collagenopathy	Criteria Provided Conflicting Classifications	CA6534514	rs_537186508	3 SubmittersRCV000354121 RCV001582948 RCV006457000
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 2 collagenopathy	Criteria Provided Conflicting Classifications	CA6534720	rs_374156023	2 SubmittersRCV000266329 RCV001850630 RCV006458202
NM_001844.5(COL2A1):c.2819G>A (p.Arg940Gln)	SNV Germline	Chr12:47978673	Conflicting classifications of pathogenicity	Stickler syndrome type 1 Condition: not provided Stickler syndrome, type I, nonsyndromic ocular Type 2 collagenopathy	Criteria Provided Conflicting Classifications	CA6534977	rs_533540496	3 SubmittersRCV000289195 RCV002056296 RCV004549667 RCV006458207
NM_001844.5(COL2A1):c.1680+9C>A	SNV Germline	Chr12:47985719	Conflicting classifications of pathogenicity	Stickler syndrome type 1 COL2A1-related disorder Type 2 collagenopathy	Criteria Provided Conflicting Classifications	CA6535425	rs_371857655	2 SubmittersRCV000379960 RCV004544529 RCV006458214
NM_001844.5(COL2A1):c.1680+8G>T	SNV Germline	Chr12:47985720	Conflicting classifications of pathogenicity	Stickler syndrome type 1 COL2A1-related disorder Condition: not provided Type 2 collagenopathy	Criteria Provided Conflicting Classifications	CA6535426	rs_754310324	3 SubmittersRCV000376050 RCV004544530 RCV005639012 RCV006458215
NM_001844.5(COL2A1):c.85+10C>G	SNV Germline	Chr12:48004227	Conflicting classifications of pathogenicity	Stickler syndrome type 1 Connective tissue disorder not specified Condition: not provided Type 2 collagenopathy	Criteria Provided Conflicting Classifications	CA6536118	rs_769941617	7 SubmittersRCV000285542 RCV000680498 RCV000611318 RCV000919210 RCV006458228
NM_001844.5(COL2A1):c.4375C>T (p.Arg1459Cys)	SNV Germline	Chr12:47973496	Conflicting classifications of pathogenicity	Stickler syndrome type 1 Condition: not provided Type 2 collagenopathy	Criteria Provided Conflicting Classifications	CA6534469	rs_148838496	3 SubmittersRCV000312017 RCV001235510 RCV006456998
NM_001844.5(COL2A1):c.4264C>T (p.Arg1422Trp)	SNV Germline	Chr12:47974142	Conflicting classifications of pathogenicity	Stickler syndrome type 1 Condition: not provided Type 2 collagenopathy	Criteria Provided Conflicting Classifications	CA6534511	rs_754466377	2 SubmittersRCV000396722 RCV001344740 RCV006456999
NM_001844.5(COL2A1):c.3736G>A (p.Gly1246Ser)	SNV Germline	Chr12:47975467	Conflicting classifications of pathogenicity	Stickler syndrome type 1 not specified Connective tissue disorder Condition: not provided Type 2 collagenopathy	Criteria Provided Conflicting Classifications	CA6534653	rs_147569641	9 SubmittersRCV000397377 RCV000438916 RCV000680493 RCV000893653 RCV006458199
NM_001844.5(COL2A1):c.2281G>A (p.Ala761Thr)	SNV Germline	Chr12:47982522	Conflicting classifications of pathogenicity	Stickler syndrome type 1 Condition: not provided Type 2 collagenopathy	Criteria Provided Conflicting Classifications	CA6535166	rs_751436440	4 SubmittersRCV000343300 RCV002262963 RCV006458210
NM_001844.5(COL2A1):c.1366-13C>A	SNV Germline	Chr12:47986901	Conflicting classifications of pathogenicity	Stickler syndrome type 1 Connective tissue disorder Condition: not provided Type 2 collagenopathy	Criteria Provided Conflicting Classifications	CA6535495	rs_200984998	5 SubmittersRCV000269517 RCV000659392 RCV001398631 RCV006458218
NM_001844.5(COL2A1):c.1077C>G (p.Val359=)	SNV Germline	Chr12:47989273	Conflicting classifications of pathogenicity	Stickler syndrome type 1 Condition: not provided not specified Type 2 collagenopathy	Criteria Provided Conflicting Classifications	CA6535612	rs_202002349	3 SubmittersRCV000265928 RCV002056298 RCV005407037 RCV006458219
NM_001844.5(COL2A1):c.803C>T (p.Pro268Leu)	SNV Germline	Chr12:47994437	Conflicting classifications of pathogenicity	Stickler syndrome type 1 14 conditions Condition: not provided COL2A1-related disorder Type 2 collagenopathy	Criteria Provided Conflicting Classifications	CA6535779	rs_142770543	6 SubmittersRCV000351659 RCV000763850 RCV000976095 RCV004537733 RCV006458222
NM_001844.5(COL2A1):c.3047G>A (p.Arg1016Lys)	SNV Germline	Chr12:47978074	Conflicting classifications of pathogenicity	Stickler syndrome type 1 Condition: not provided Mendelian syndromes with cleft lip/palate COL2A1-related disorder Type 2 collagenopathy	Criteria Provided Conflicting Classifications	CA6534909	rs_146046296	5 SubmittersRCV000387243 RCV001403750 RCV003314586 RCV004544528 RCV006458206
NM_001844.5(COL2A1):c.2410-11C>T	SNV Germline	Chr12:47981407	Conflicting classifications of pathogenicity	Stickler syndrome type 1 Condition: not provided Type 2 collagenopathy	Criteria Provided Conflicting Classifications	CA10641337	rs_886049447	2 SubmittersRCV000356094 RCV001469152 RCV006458209
NM_001844.5(COL2A1):c.1938T>C (p.Pro646=)	SNV Germline	Chr12:47984090	Conflicting classifications of pathogenicity	Stickler syndrome type 1 Condition: not provided Type 2 collagenopathy	Criteria Provided Conflicting Classifications	CA6535323	rs_368641858	2 SubmittersRCV000273727 RCV002056297 RCV006458213
NM_001844.5(COL2A1):c.1659A>G (p.Glu553=)	SNV Germline	Chr12:47985749	Conflicting classifications of pathogenicity	Stickler syndrome type 1 Condition: not provided Type 2 collagenopathy	Criteria Provided Conflicting Classifications	CA6535431	rs_756360655	2 SubmittersRCV000282098 RCV003765810 RCV006458216
NM_001844.5(COL2A1):c.1498G>A (p.Val500Ile)	SNV Germline	Chr12:47986365	Conflicting classifications of pathogenicity	Stickler syndrome type 1 Condition: not provided Type 2 collagenopathy	Criteria Provided Conflicting Classifications	CA6535468	rs_768110640	3 SubmittersRCV000312447 RCV001764277 RCV006458217
NM_001844.5(COL2A1):c.246C>T (p.Phe82=)	SNV Germline	Chr12:47999965	Conflicting classifications of pathogenicity	Stickler syndrome type 1 Condition: not provided COL2A1-related disorder Type 2 collagenopathy	Criteria Provided Conflicting Classifications	CA6536069	rs_142161948	6 SubmittersRCV000383362 RCV000757109 RCV004544531 RCV006458227
NM_001844.5(COL2A1):c.*305G>A	SNV Germline	Chr12:47973102	Conflicting classifications of pathogenicity	Stickler syndrome type 1 Condition: not provided Type 2 collagenopathy	Criteria Provided Conflicting Classifications	CA10642340	rs_532700241	2 SubmittersRCV000309876 RCV003391102 RCV006456990
NM_001844.5(COL2A1):c.4117G>A (p.Val1373Ile)	SNV Germline	Chr12:47974289	Conflicting classifications of pathogenicity	Stickler syndrome type 1 Condition: not provided Type 2 collagenopathy	Criteria Provided Conflicting Classifications	CA6534531	rs_778382364	2 SubmittersRCV000357617 RCV001850629 RCV006458197
NM_001844.5(COL2A1):c.3659T>C (p.Met1220Thr)	SNV Germline	Chr12:47975544	Conflicting classifications of pathogenicity	Stickler syndrome type 1 Condition: not provided Type 2 collagenopathy	Criteria Provided Conflicting Classifications	CA10642342	rs_886049445	2 SubmittersRCV000310097 RCV005055861 RCV006458200
NM_001853.4(COL9A3):c.1756A>C (p.Thr586Pro)	SNV Germline	Chr20:62837235	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Stickler syndrome	Criteria Provided Conflicting Classifications	CA9950183	rs_145821912	5 SubmittersRCV000997797 RCV002520030 RCV005355661
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 Epiphyseal dysplasia, multiple, 6 Stickler syndrome, type 4	Criteria Provided Conflicting Classifications	CA3882632	rs_149830493	8 SubmittersRCV000415246 RCV000579034 RCV001334962 RCV004529569 RCV005625584
NM_001854.4(COL11A1):c.2754+5G>A	SNV Germline	Chr1:102978703	Conflicting classifications of pathogenicity	Stickler syndrome type 2 Condition: not provided Stickler syndrome	Criteria Provided Conflicting Classifications	CA16043725	rs_1057518666	5 SubmittersRCV000414977 RCV000489508 RCV006277830
NM_001854.4(COL11A1):c.4802C>A (p.Thr1601Asn)	SNV Germline	Chr1:102886863	Conflicting classifications of pathogenicity	Condition: not provided Connective tissue disorder Fibrochondrogenesis 1 Stickler syndrome type 2 COL11A1-related disorder Stickler syndrome type 2 Hearing loss, autosomal dominant 37 Marshall syndrome Fibrochondrogenesis 1 Intervertebral disc disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA973407	rs_143206624	7 SubmittersRCV000439022 RCV000680456 RCV001097884 RCV001097885 RCV004533127 RCV005033955 RCV004022502
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	Epiphyseal dysplasia, multiple, 2 Stickler syndrome, type 5 Intervertebral disc disorder Epiphyseal dysplasia, multiple, 2 Condition: not provided Meniere disease COL9A2-related disorder not specified	Criteria Provided Conflicting Classifications	CA791246	rs_201847956	7 SubmittersRCV000477829 RCV001100678 RCV001489852 RCV004568139 RCV004740252 RCV005239060
NM_001844.5(COL2A1):c.1300C>T (p.Pro434Ser)	SNV Germline	Chr12:47987143	Conflicting classifications of pathogenicity	Condition: not provided Stickler syndrome type 1 Hearing impairment COL2A1-related disorder not specified Type 2 collagenopathy	Criteria Provided Conflicting Classifications	CA6535523	rs_140985224	9 SubmittersRCV000723634 RCV001110199 RCV001375461 RCV004535536 RCV005239076 RCV006458413
NM_000088.4(COL1A1):c.658C>T (p.Arg220Ter)	SNV Germline	Chr17:50197770	Pathogenic	Osteogenesis imperfecta type I Ehlers-Danlos syndrome, arthrochalasia type, 2 Condition: not provided Osteogenesis imperfecta Stickler syndrome type 2	Criteria Provided Multiple Submitters No Conflicts	CA291547917	rs_72667036	9 SubmittersRCV000490652 RCV001003534 RCV001552353 RCV002279256 RCV004767298
NM_001844.5(COL2A1):c.1597C>T (p.Arg533Ter)	SNV Germline	Chr12:47985811	Pathogenic	Condition: not provided Heart, malformation of Micrognathia Stickler syndrome type 1 Connective tissue disorder See cases	Criteria Provided Multiple Submitters No Conflicts	CA384551753	rs_1085307608	9 SubmittersRCV000489991 RCV002264702 RCV002286574 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 Condition: not provided	Criteria Provided Conflicting Classifications	CA384547035	rs_1555166537	3 SubmittersRCV000506248 RCV003988849 RCV006463181
NM_001851.6(COL9A1):c.353G>A (p.Arg118Gln)	SNV Germline	Chr6:70294510	Conflicting classifications of pathogenicity	Condition: not provided Epiphyseal dysplasia, multiple, 6 Stickler syndrome, type 4 not specified	Criteria Provided Conflicting Classifications	CA3882832	rs_143848379	5 SubmittersRCV000732119 RCV000764655 RCV006452706
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	6 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 COL11A1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA341212387	rs_1553193910	6 SubmittersRCV000591257 RCV000624108 RCV001799515 RCV001824151 RCV004737861
NM_001854.4(COL11A1):c.2808+1G>A	SNV Germline	Chr1:102974829	Pathogenic	Condition: not provided Stickler syndrome type 2	Criteria Provided Multiple Submitters No Conflicts	CA341161925	rs_1553223152	3 SubmittersRCV000598697 RCV004767434
NM_001854.4(COL11A1):c.4087-4A>G	SNV Germline	Chr1:102898998	Conflicting classifications of pathogenicity	Stickler syndrome type 2 Condition: not provided Fibrochondrogenesis 1 COL11A1-related disorder	Criteria Provided Conflicting Classifications	CA973675	rs_137999403	4 SubmittersRCV001101756 RCV000919370 RCV001101757 RCV004533237
NM_001844.5(COL2A1):c.3385C>T (p.Leu1129=)	SNV Germline	Chr12:47976862	Conflicting classifications of pathogenicity	not specified Stickler syndrome type 1 Condition: not provided COL2A1-related disorder Type 2 collagenopathy	Criteria Provided Conflicting Classifications	CA6534774	rs_745633496	5 SubmittersRCV000614112 RCV001109933 RCV001474367 RCV004544744 RCV006459655
NM_001844.5(COL2A1):c.1023+3G>A	SNV Germline	Chr12:47992875	Conflicting classifications of pathogenicity	Stickler syndrome type 1 Condition: not provided Type 2 collagenopathy	Criteria Provided Conflicting Classifications	CA6535660	rs_374570848	3 SubmittersRCV001112956 RCV001697443 RCV006459648
NM_001844.5(COL2A1):c.3120C>T (p.Pro1040=)	SNV Germline	Chr12:47977645	Conflicting classifications of pathogenicity	Stickler syndrome type 1 Condition: not provided not specified Type 2 collagenopathy COL2A1-related disorder	Criteria Provided Conflicting Classifications	CA236521255	rs_367982631	6 SubmittersRCV001112704 RCV001481593 RCV001729657 RCV006459657 RCV004544754
NM_001853.4(COL9A3):c.1411C>T (p.Arg471Ter)	SNV Germline	Chr20:62836196	Pathogenic	Inborn genetic diseases Stickler syndrome, type 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 Condition: not provided Type 2 collagenopathy	Criteria Provided Conflicting Classifications	CA6534656	rs_200993187	5 SubmittersRCV000659405 RCV001113968 RCV001511229 RCV006459778
NM_001844.5(COL2A1):c.3166-1G>A	SNV Germline	Chr12:47977428	Pathogenic	Stickler syndrome type 1	Criteria Provided Single Submitter	CA384540484	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	CA236524266	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	CA384547778	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 Spondyloepiphyseal dysplasia congenita	Criteria Provided Multiple Submitters No Conflicts	CA236528118	rs_1025202963	4 SubmittersRCV000659391 RCV001868174 RCV005253030
NM_001844.5(COL2A1):c.550G>A (p.Ala184Thr)	SNV Germline	Chr12:47996607	Conflicting classifications of pathogenicity	Connective tissue disorder Stickler syndrome type 1 Condition: not provided Type 2 collagenopathy	Criteria Provided Conflicting Classifications	CA6535885	rs_201817670	5 SubmittersRCV000659386 RCV001111049 RCV001433646 RCV006459777
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 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA384526460	rs_1246771678	5 SubmittersRCV000659383 RCV001387827 RCV004533444 RCV004609480
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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA791930	rs_77937237	7 SubmittersRCV000660517 RCV001099057 RCV001199907 RCV001369753 RCV006367216
NM_001854.4(COL11A1):c.4396G>T (p.Glu1466Ter)	SNV Germline	Chr1:102889523	Pathogenic	Stickler syndrome type 2	Criteria Provided Single Submitter	CA341212718	rs_866783525	1 SubmittersRCV000679954
NM_001844.5(COL2A1):c.798G>A (p.Arg266=)	SNV Germline	Chr12:47994442	Conflicting classifications of pathogenicity	Condition: not provided Stickler syndrome type 1 Type 2 collagenopathy	Criteria Provided Conflicting Classifications	CA6535781	rs_376753701	4 SubmittersRCV000728040 RCV001114314 RCV006459867
NM_001844.5(COL2A1):c.4116C>T (p.Asn1372=)	SNV Germline	Chr12:47974290	Conflicting classifications of pathogenicity	Condition: not provided Stickler syndrome type 1 Connective tissue disorder Type 2 collagenopathy	Criteria Provided Conflicting Classifications	CA6534532	rs_150237416	6 SubmittersRCV000729624 RCV001109851 RCV002279503 RCV006459869
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	CA364663508	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	CA384547870	rs_1565679039	1 SubmittersRCV000735218
NM_001854.4(COL11A1):c.4084C>T (p.Arg1362Ter)	SNV Germline	Chr1:102912161	Pathogenic	Condition: not provided Intervertebral disc disorder Hearing loss, autosomal dominant 37 Fibrochondrogenesis 1 Stickler syndrome type 2 Marshall syndrome	Criteria Provided Multiple Submitters No Conflicts	CA973696	rs_755987732	3 SubmittersRCV000760438 RCV005036087
NM_001854.4(COL11A1):c.2972G>A (p.Gly991Asp)	SNV Germline	Chr1:102962705	Likely pathogenic	Stickler syndrome type 2	Criteria Provided Single Submitter	CA341157875	rs_1557877041	1 SubmittersRCV000761265
NM_001844.5(COL2A1):c.3136C>T (p.Pro1046Ser)	SNV Germline	Chr12:47977629	Conflicting classifications of pathogenicity	Stickler syndrome, type I, nonsyndromic ocular	Criteria Provided Conflicting Classifications	CA384540549	rs_751205887	2 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	CA974754	rs_142506188	4 SubmittersRCV000841256 RCV001102044 RCV001102045 RCV004540139
NM_001852.4(COL9A2):c.1237C>T (p.Pro413Ser)	SNV Germline	Chr1:40304370	Conflicting classifications of pathogenicity	Stickler syndrome, type 5 Epiphyseal dysplasia, multiple, 2 Condition: not provided COL9A2-related disorder	Criteria Provided Conflicting Classifications	CA791521	rs_201985170	5 SubmittersRCV001002762 RCV001098963 RCV002064415 RCV003948040
NM_001854.4(COL11A1):c.456C>T (p.Pro152=)	SNV Germline	Chr1:103078690	Conflicting classifications of pathogenicity	Condition: not provided Stickler syndrome type 2 Fibrochondrogenesis 1 COL11A1-related disorder	Criteria Provided Conflicting Classifications	CA975462	rs_751512442	5 SubmittersRCV000905879 RCV001102232 RCV001102231 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	CA975427	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	CA27712511	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	CA341160711	rs_1570712889	2 SubmittersRCV000986390 RCV002290500
NM_001844.5(COL2A1):c.4343C>G (p.Thr1448Ser)	SNV Germline	Chr12:47973528	Conflicting classifications of pathogenicity	Stickler syndrome type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA384533317	rs_1481212897	3 SubmittersRCV000988817 RCV001858697
NM_001844.5(COL2A1):c.3013G>A (p.Gly1005Ser)	SNV Germline	Chr12:47978108	Pathogenic/Likely pathogenic	Stickler syndrome type 1 Condition: not provided Type 2 collagenopathy	Criteria Provided Multiple Submitters No Conflicts	CA6534912	rs_753342774	3 SubmittersRCV000988820 RCV003558623 RCV006249697
NM_001844.5(COL2A1):c.2679+1G>A	SNV Unknown	Chr12:47980008	Pathogenic	Stickler syndrome type 1	Criteria Provided Single Submitter	CA384544150	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	CA384544391	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	CA384548471	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	CA384537241	rs_1592196867	2 SubmittersRCV000995717 RCV003708556
NM_001844.5(COL2A1):c.1527+135G>A	SNV Germline	Chr12:47986201	Pathogenic/Likely pathogenic	Stargardt disease Condition: not provided Stickler syndrome type 1	Criteria Provided Multiple Submitters No Conflicts	CA915948787	rs_1592218346	5 SubmittersRCV001002986 RCV001571488 RCV005253675
NM_001844.5(COL2A1):c.2659C>T (p.Arg887Ter)	SNV Germline	Chr12:47980029	Pathogenic/Likely pathogenic	Condition: not provided Stickler syndrome type 1 Stickler syndrome, type I, nonsyndromic ocular COL2A1-related disorder Stickler syndrome	Criteria Provided Multiple Submitters No Conflicts	CA384544227	rs_1399676515	7 SubmittersRCV001008652 RCV002291290 RCV005408641 RCV005871111 RCV006605312
NM_001851.6(COL9A1):c.460G>C (p.Val154Leu)	SNV Germline	Chr6:70294403	Conflicting classifications of pathogenicity	Condition: not provided not specified Inborn genetic diseases COL9A1-related disorder Epiphyseal dysplasia, multiple, 6 Stickler syndrome, type 4	Criteria Provided Conflicting Classifications	CA3882804	rs_138583508	7 SubmittersRCV001034447 RCV001700689 RCV003346255 RCV003963000 RCV005626301
NM_001844.5(COL2A1):c.2909C>T (p.Pro970Leu)	SNV Germline	Chr12:47978385	Conflicting classifications of pathogenicity	Condition: not provided Stickler syndrome type 1 Connective tissue disorder Type 2 collagenopathy	Criteria Provided Conflicting Classifications	CA6534948	rs_371268468	4 SubmittersRCV001041428 RCV001114066 RCV002276596 RCV006455357
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	CA384550450	rs_1939312423	4 SubmittersRCV001074728 RCV001387557 RCV002290588
NM_001844.5(COL2A1):c.1221+1G>A	SNV Germline	Chr12:47987610	Pathogenic/Likely pathogenic	Retinal dystrophy Condition: not provided COL2A1-related disorder Stickler syndrome	Criteria Provided Multiple Submitters No Conflicts	CA384554335	rs_1399741348	5 SubmittersRCV001073695 RCV001377071 RCV004734006 RCV006443707
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	CA973288	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	CA419253432	rs_1649996140	2 SubmittersRCV001096133 RCV001096134 RCV002069624
NM_001854.4(COL11A1):c.2735C>T (p.Pro912Leu)	SNV Germline	Chr1:102978727	Conflicting classifications of pathogenicity	Fibrochondrogenesis 1 Stickler syndrome type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA974297	rs_192842970	5 SubmittersRCV001101959 RCV001101958 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	CA974429	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	CA974799	rs_534777436	3 SubmittersRCV001096646 RCV001096647 RCV001760069
NM_001854.4(COL11A1):c.1408G>C (p.Asp470His)	SNV Germline	Chr1:103017825	Conflicting classifications of pathogenicity	Stickler syndrome type 2 Fibrochondrogenesis 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA974993	rs_752749747	3 SubmittersRCV001098375 RCV001098376 RCV001760072
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	CA27743690	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	CA975054	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	CA975288	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 Stickler syndrome type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA975420	rs_751182532	3 SubmittersRCV001100245 RCV001100246 RCV001759867
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	CA975454	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	CA27756355	rs_530441485	3 SubmittersRCV001098583 RCV001098584 RCV003769054
NM_001852.4(COL9A2):c.1753G>T (p.Val585Leu)	SNV Germline	Chr1:40302660	Conflicting classifications of pathogenicity	Epiphyseal dysplasia, multiple, 2 Condition: not provided COL9A2-related disorder Stickler syndrome	Criteria Provided Conflicting Classifications	CA791346	rs_202153520	5 SubmittersRCV001097200 RCV001423359 RCV003938441 RCV005367721
NM_001854.4(COL11A1):c.5275-9A>C	SNV Germline	Chr1:102878174	Conflicting classifications of pathogenicity	Stickler syndrome type 2 Fibrochondrogenesis 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA973261	rs_200949243	2 SubmittersRCV001101557 RCV001101558 RCV005093482
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 not specified	Criteria Provided Conflicting Classifications	CA974048	rs_201970483	5 SubmittersRCV001101860 RCV001101861 RCV001518054 RCV006455416
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	CA884739287	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	CA974791	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	CA975365	rs_776608546	3 SubmittersRCV001100243 RCV001100242 RCV001404907 RCV004545060
NM_001844.5(COL2A1):c.4448C>T (p.Pro1483Leu)	SNV Germline	Chr12:47973423	Conflicting classifications of pathogenicity	Stickler syndrome type 1 Condition: not provided Type 2 collagenopathy	Criteria Provided Conflicting Classifications	CA6534451	rs_376442872	3 SubmittersRCV001112534 RCV001772326 RCV006455425
NM_001844.5(COL2A1):c.4350C>T (p.Ile1450=)	SNV Germline	Chr12:47973521	Conflicting classifications of pathogenicity	Stickler syndrome type 1 Condition: not provided COL2A1-related disorder Type 2 collagenopathy	Criteria Provided Conflicting Classifications	CA6534475	rs_137948104	5 SubmittersRCV001112536 RCV001410869 RCV004538334 RCV006455433
NM_001844.5(COL2A1):c.4093A>T (p.Asn1365Tyr)	SNV Germline	Chr12:47974313	Conflicting classifications of pathogenicity	Stickler syndrome type 1 Condition: not provided Type 2 collagenopathy	Criteria Provided Conflicting Classifications	CA6534540	rs_202105427	2 SubmittersRCV001109854 RCV001245820 RCV006455420
NM_001844.5(COL2A1):c.3713A>C (p.Tyr1238Ser)	SNV Germline	Chr12:47975490	Conflicting classifications of pathogenicity	Stickler syndrome type 1 Condition: not provided Connective tissue disorder Type 2 collagenopathy COL2A1-related disorder	Criteria Provided Conflicting Classifications	CA6534662	rs_199726428	5 SubmittersRCV001113969 RCV001320848 RCV002276626 RCV006455442 RCV004734019
NM_001844.5(COL2A1):c.3663C>T (p.Ser1221=)	SNV Germline	Chr12:47975540	Conflicting classifications of pathogenicity	Stickler syndrome type 1 Condition: not provided Type 2 collagenopathy	Criteria Provided Conflicting Classifications	CA6534671	rs_2276459	2 SubmittersRCV001113971 RCV001517493 RCV006455443
NM_001844.5(COL2A1):c.3505G>A (p.Val1169Ile)	SNV Germline	Chr12:47976055	Conflicting classifications of pathogenicity	Stickler syndrome type 1 Condition: not provided Type 2 collagenopathy not specified	Criteria Provided Conflicting Classifications	CA6534717	rs_760390497	5 SubmittersRCV001109931 RCV001337220 RCV006455421 RCV006455422
NM_001844.5(COL2A1):c.3308C>G (p.Ala1103Gly)	SNV Germline	Chr12:47977121	Conflicting classifications of pathogenicity	Stickler syndrome type 1 Intellectual disability Condition: not provided Inborn genetic diseases Type 2 collagenopathy	Criteria Provided Conflicting Classifications	CA384539526	rs_1180226091	4 SubmittersRCV001110723 RCV001251955 RCV002556166 RCV002555076 RCV006455427
NM_001844.5(COL2A1):c.2805C>T (p.Ser935=)	SNV Germline	Chr12:47978687	Conflicting classifications of pathogenicity	Stickler syndrome type 1 Condition: not provided Type 2 collagenopathy	Criteria Provided Conflicting Classifications	CA236521970	rs_948633441	2 SubmittersRCV001110026 RCV001413346 RCV006455423
NM_001844.5(COL2A1):c.1138A>G (p.Thr380Ala)	SNV Germline	Chr12:47987694	Conflicting classifications of pathogenicity	Stickler syndrome type 1 Condition: not provided Type 2 collagenopathy	Criteria Provided Conflicting Classifications	CA6535588	rs_748511528	2 SubmittersRCV001110954 RCV003727861 RCV006455430
NM_001844.5(COL2A1):c.778C>T (p.Pro260Ser)	SNV Germline	Chr12:47994462	Conflicting classifications of pathogenicity	Stickler syndrome type 1 Condition: not provided Type 2 collagenopathy	Criteria Provided Conflicting Classifications	CA384522473	rs_1470645150	2 SubmittersRCV001114316 RCV003679035 RCV006455445
NM_001844.5(COL2A1):c.711T>A (p.Gly237=)	SNV Germline	Chr12:47995306	Conflicting classifications of pathogenicity	Stickler syndrome type 1 Condition: not provided Type 2 collagenopathy	Criteria Provided Conflicting Classifications	CA6535819	rs_764487245	2 SubmittersRCV001114317 RCV002556237 RCV006455446
NM_001844.5(COL2A1):c.4074+12G>T	SNV Germline	Chr12:47974663	Conflicting classifications of pathogenicity	Stickler syndrome type 1 Condition: not provided Type 2 collagenopathy	Criteria Provided Conflicting Classifications	CA6534567	rs_201312340	3 SubmittersRCV001110643 RCV001811662 RCV006455426
NM_001844.5(COL2A1):c.2410-13T>G	SNV Germline	Chr12:47981409	Conflicting classifications of pathogenicity	Stickler syndrome type 1 Condition: not provided Type 2 collagenopathy	Criteria Provided Conflicting Classifications	CA6535102	rs_574507277	2 SubmittersRCV001112797 RCV002069818 RCV006455436
NM_001844.5(COL2A1):c.924+14A>C	SNV Germline	Chr12:47993795	Conflicting classifications of pathogenicity	Stickler syndrome type 1 Type 2 collagenopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA604837764	rs_1475810942	2 SubmittersRCV001112958 RCV006455438 RCV006465392
NM_001844.5(COL2A1):c.708+14C>T	SNV Germline	Chr12:47995696	Conflicting classifications of pathogenicity	Stickler syndrome type 1 Condition: not provided Type 2 collagenopathy	Criteria Provided Conflicting Classifications	CA6535837	rs_769173275	2 SubmittersRCV001110295 RCV001415618 RCV006455424
NM_001854.4(COL11A1):c.3115G>A (p.Gly1039Ser)	SNV Germline	Chr1:102961919	Conflicting classifications of pathogenicity	Marshall syndrome Stickler syndrome type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA974137	rs_764282256	2 SubmittersRCV001257086 RCV005057075
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	CA3882834	rs_147237457	2 SubmittersRCV001196482 RCV001876273
NM_001854.4(COL11A1):c.281C>T (p.Thr94Ile)	SNV Germline	Chr1:103078865	Conflicting classifications of pathogenicity	Stickler syndrome type 2 Marshall syndrome Fibrochondrogenesis 1 Condition: not provided COL11A1-related disorder not specified	Criteria Provided Conflicting Classifications	CA341168079	rs_1283924469	6 SubmittersRCV001249437 RCV001587283 RCV004528439 RCV005057153
NM_001854.4(COL11A1):c.1168G>T (p.Glu390Ter)	SNV Germline	Chr1:103022819	Likely pathogenic	Fibrochondrogenesis 1 Marshall syndrome Stickler syndrome type 2	Criteria Provided Single Submitter	CA341154439	rs_1667208458	1 SubmittersRCV001249607
NM_001854.4(COL11A1):c.4213G>A (p.Gly1405Ser)	SNV Germline	Chr1:102898701	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided Intervertebral disc disorder Hearing loss, autosomal dominant 37 Marshall syndrome Fibrochondrogenesis 1 Stickler syndrome type 2	Criteria Provided Conflicting Classifications	CA973632	rs_376137502	4 SubmittersRCV001266036 RCV003106170 RCV006261757
NM_001844.5(COL2A1):c.2862C>T (p.Gly954=)	SNV Germline	Chr12:47978630	Pathogenic/Likely pathogenic	Condition: not provided Stickler syndrome type 1 Type 2 collagenopathy	Criteria Provided Multiple Submitters No Conflicts	CA479696709	rs_367806541	11 SubmittersRCV001269946 RCV002294450 RCV005401818
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 COL2A1-related disorder 16 conditions	Criteria Provided Multiple Submitters No Conflicts	CA16609685	rs_1939189846	8 SubmittersRCV001270004 RCV001332046 RCV003989668 RCV005866914 RCV006257332
NM_001854.4(COL11A1):c.907G>A (p.Val303Ile)	SNV Germline	Chr1:103025604	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases not specified Marshall syndrome Hearing loss, autosomal dominant 37 Fibrochondrogenesis Stickler syndrome type 2	Criteria Provided Conflicting Classifications	CA975196	rs_369925361	5 SubmittersRCV001321104 RCV003166859 RCV003490188 RCV005863415
NM_001854.4(COL11A1):c.1684-1G>C	SNV Unknown	Chr1:103006316	Likely pathogenic	Stickler syndrome type 2	Criteria Provided Single Submitter	CA341175248	rs_1665610030	1 SubmittersRCV001330656
NM_001854.4(COL11A1):c.1245+1G>A	SNV Germline	Chr1:103022741	Pathogenic/Likely pathogenic	Condition: not provided Stickler syndrome type 2 Marshall syndrome Fibrochondrogenesis 1 Hearing loss, autosomal dominant 37 Intervertebral disc disorder COL11A1-related disorder Stickler syndrome type 2	Criteria Provided Multiple Submitters No Conflicts	CA975086	rs_766849561	7 SubmittersRCV001780801 RCV002503269 RCV004738382 RCV005862521
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	CA384547687	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 Intervertebral disc disorder Hearing loss, autosomal dominant 37 Fibrochondrogenesis 1 Marshall syndrome Stickler syndrome type 2 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA27682412	rs_750291363	4 SubmittersRCV001341960 RCV001535998 RCV004968073
NM_001854.4(COL11A1):c.4388C>A (p.Pro1463His)	SNV Germline	Chr1:102889531	Conflicting classifications of pathogenicity	Condition: not provided Stickler syndrome type 2	Criteria Provided Conflicting Classifications	CA973552	rs_202194245	2 SubmittersRCV001369696 RCV004789551
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	CA339878064	rs_781682527	3 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	CA6535512	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	CA8952685	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	CA6534978	rs_777615798	2 SubmittersRCV001377044 RCV002286578
NM_001844.5(COL2A1):c.1996-9G>A	SNV Germline	Chr12:47983447	Pathogenic/Likely pathogenic	Condition: not provided not specified COL2A1-related disorder Inborn genetic diseases Type 2 collagenopathy Stickler syndrome type 1	Criteria Provided Multiple Submitters No Conflicts	CA2499221668	rs_2136555221	7 SubmittersRCV001378414 RCV002246357 RCV004545218 RCV005532994 RCV006249751 RCV005622112
NM_001844.5(COL2A1):c.3490G>A (p.Gly1164Ser)	SNV Germline	Chr12:47976070	Pathogenic	Condition: not provided Stickler syndrome type 1 COL2A1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA384537460	rs_2136514646	4 SubmittersRCV001382420 RCV002246366 RCV005866990
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	CA384547381	rs_2136552560	2 SubmittersRCV001385790 RCV003493854
NM_001853.4(COL9A3):c.387C>T (p.Ser129=)	SNV Germline	Chr20:62821774	Conflicting classifications of pathogenicity	Condition: not provided Epiphyseal dysplasia, multiple, 3 Intervertebral disc disorder Stickler syndrome, type 6	Criteria Provided Conflicting Classifications	CA9949228	rs_529110098	2 SubmittersRCV001419553 RCV005023161
NM_001852.4(COL9A2):c.217C>T (p.Pro73Ser)	SNV Germline	Chr1:40314237	Conflicting classifications of pathogenicity	Condition: not provided not specified COL9A2-related disorder Stickler syndrome, type 5	Criteria Provided Conflicting Classifications	CA792071	rs_375150574	6 SubmittersRCV001528017 RCV003487428 RCV004741029 RCV004789658
NM_001854.4(COL11A1):c.4186G>T (p.Gly1396Cys)	SNV Unknown	Chr1:102898728	Likely pathogenic	Fibrochondrogenesis 1 Marshall syndrome Intervertebral disc disorder Stickler syndrome type 2 Hearing loss, autosomal dominant 37	Criteria Provided Single Submitter	CA341155366	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	CA341162272	rs_2101653580	2 SubmittersRCV001542538 RCV001581183
NM_001852.4(COL9A2):c.682C>T (p.Pro228Ser)	SNV Germline	Chr1:40310716	Conflicting classifications of pathogenicity	Condition: not provided not specified COL9A2-related disorder Stickler syndrome, type 5	Criteria Provided Conflicting Classifications	CA791814	rs_370064150	6 SubmittersRCV001563473 RCV003487490 RCV004741036 RCV004785279
NM_001844.5(COL2A1):c.2464G>A (p.Gly822Ser)	SNV Germline	Chr12:47980968	Pathogenic/Likely pathogenic	Stickler syndrome type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA384545069	rs_2136539942	2 SubmittersRCV001564047 RCV005094791
NM_001844.5(COL2A1):c.1826G>T (p.Gly609Val)	SNV Germline	Chr12:47985002	Likely pathogenic	Condition: not provided Stickler syndrome type 1	Criteria Provided Multiple Submitters No Conflicts	CA384550472	rs_140580674	2 SubmittersRCV001865988 RCV001564048
NM_001854.4(COL11A1):c.3068C>A (p.Ala1023Glu)	SNV Germline	Chr1:102962222	Conflicting classifications of pathogenicity	Condition: not provided Marshall syndrome Stickler syndrome type 2 Intervertebral disc disorder Hearing loss, autosomal dominant 37 Fibrochondrogenesis 1 COL11A1-related disorder	Criteria Provided Conflicting Classifications	CA27693634	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	CA384536187	rs_2136508909	4 SubmittersRCV001591924 RCV003234087 RCV004528523
NM_001854.4(COL11A1):c.2513G>A (p.Gly838Glu)	SNV Germline	Chr1:102984181	Pathogenic/Likely pathogenic	Condition: not provided Marshall syndrome Fibrochondrogenesis 1 Hearing loss, autosomal dominant 37 Stickler syndrome type 2 Stickler syndrome type 2	Criteria Provided Multiple Submitters No Conflicts	CA27704961	rs_372419698	4 SubmittersRCV001587154 RCV001825009 RCV004770182
NM_001852.4(COL9A2):c.1753G>A (p.Val585Met)	SNV Germline	Chr1:40302660	Conflicting classifications of pathogenicity	Condition: not provided not specified Stickler syndrome, type 5 COL9A2-related disorder	Criteria Provided Conflicting Classifications	CA791347	rs_202153520	5 SubmittersRCV001590017 RCV003487493 RCV004785289 RCV003399398
NM_001844.5(COL2A1):c.1887+1G>A	SNV Germline	Chr12:47984545	Pathogenic/Likely pathogenic	Stickler syndrome type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA384549269	rs_2136561510	2 SubmittersRCV001731124 RCV006467804
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	CA974348	rs_749003514	4 SubmittersRCV001733091 RCV002508964 RCV004040036
NM_001854.4(COL11A1):c.2241+5G>T	SNV Germline	Chr1:102997075	Pathogenic/Likely pathogenic	Condition: not provided Hearing loss, autosomal dominant 37 Marshall syndrome Stickler syndrome type 2 Intervertebral disc disorder Fibrochondrogenesis 1	Criteria Provided Multiple Submitters No Conflicts	CA2573051325	rs_2101800665	3 SubmittersRCV001752105 RCV005040348
NM_001854.4(COL11A1):c.565C>T (p.Pro189Ser)	SNV Germline	Chr1:103074704	Conflicting classifications of pathogenicity	Condition: not provided Hearing loss, autosomal dominant 37 Marshall syndrome Stickler syndrome type 2 Intervertebral disc disorder Fibrochondrogenesis 1	Criteria Provided Conflicting Classifications	CA975409	rs_201557468	3 SubmittersRCV001773124 RCV002488601
NM_001844.5(COL2A1):c.2764C>T (p.Pro922Ser)	SNV Germline	Chr12:47978728	Conflicting classifications of pathogenicity	Condition: not provided Stickler syndrome type 1	Criteria Provided Conflicting Classifications	CA6534983	rs_769590506	3 SubmittersRCV001774719 RCV004821316
NM_001844.5(COL2A1):c.4317+1G>T	SNV Germline	Chr12:47974088	Pathogenic	Stickler syndrome type 1	Criteria Provided Single Submitter	CA384533388	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	CA384535267	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	CA384539779	rs_2136520087	3 SubmittersRCV001814855 RCV001869629
NM_001853.4(COL9A3):c.1928C>T (p.Pro643Leu)	SNV Germline	Chr20:62840605	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Epiphyseal dysplasia, multiple, 3 Intervertebral disc disorder Stickler syndrome, type 6	Criteria Provided Conflicting Classifications	CA409601449	rs_2147235760	3 SubmittersRCV001984386 RCV004976105 RCV005032077
NM_001854.4(COL11A1):c.2285G>A (p.Arg762Gln)	SNV Germline	Chr1:102995999	Conflicting classifications of pathogenicity	Condition: not provided Intervertebral disc disorder Fibrochondrogenesis 1 Hearing loss, autosomal dominant 37 Stickler syndrome type 2 Marshall syndrome Hearing loss, autosomal dominant 37 Fibrochondrogenesis 1 Hearing loss, autosomal dominant 37 Stickler syndrome type 2 Marshall syndrome	Criteria Provided Conflicting Classifications	CA974505	rs_758825857	5 SubmittersRCV001878497 RCV002478131 RCV004584929 RCV005361770
NM_001851.6(COL9A1):c.14G>A (p.Trp5Ter)	SNV Germline	Chr6:70302911	Pathogenic	Condition: not provided Epiphyseal dysplasia, multiple, 6 Stickler syndrome, type 4	Criteria Provided Multiple Submitters No Conflicts	CA3882993	rs_770789859	2 SubmittersRCV001878070 RCV002482695
NM_001844.5(COL2A1):c.1042G>T (p.Gly348Cys)	SNV Germline	Chr12:47989787	Likely pathogenic	Stickler syndrome, type I, nonsyndromic ocular Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA384555459	rs_2136590405	2 SubmittersRCV005253994 RCV001966943
NM_001854.4(COL11A1):c.4709T>C (p.Leu1570Pro)	SNV Germline	Chr1:102886956	Conflicting classifications of pathogenicity	Condition: not provided Stickler syndrome type 2 Marshall syndrome Fibrochondrogenesis 1 Intervertebral disc disorder Hearing loss, autosomal dominant 37 COL11A1-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA973428	rs_558265763	5 SubmittersRCV001940346 RCV002491900 RCV004538616 RCV006352630
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	CA2573130861	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 Spondyloepiphyseal dysplasia congenita Stickler syndrome type 1	Criteria Provided Conflicting Classifications	CA236527633	rs_865903887	3 SubmittersRCV001945651 RCV003444066 RCV003339826
NM_001854.4(COL11A1):c.3230C>T (p.Pro1077Leu)	SNV Germline	Chr1:102946895	Conflicting classifications of pathogenicity	Condition: not provided Stickler syndrome type 2	Criteria Provided Conflicting Classifications	CA974091	rs_373734529	3 SubmittersRCV001921525 RCV003989734
NM_001844.5(COL2A1):c.3598-2A>G	SNV Germline	Chr12:47975607	Pathogenic/Likely pathogenic	Condition: not provided Stickler syndrome	Criteria Provided Multiple Submitters No Conflicts	CA384537245	rs_2136512643	2 SubmittersRCV001980282 RCV006442487
NM_001844.5(COL2A1):c.3886+1G>A	SNV Germline	Chr12:47975316	Pathogenic	Condition: not provided Stickler syndrome	Criteria Provided Multiple Submitters No Conflicts	CA384536261	rs_2136510769	2 SubmittersRCV002000153 RCV006437107
NM_001853.4(COL9A3):c.1851C>A (p.Asp617Glu)	SNV Germline	Chr20:62838748	Conflicting classifications of pathogenicity	Condition: not provided Intervertebral disc disorder Stickler syndrome, type 6 Epiphyseal dysplasia, multiple, 3	Criteria Provided Conflicting Classifications	CA9950222	rs_199577452	2 SubmittersRCV002006627 RCV004796703
NM_001854.4(COL11A1):c.5231A>G (p.Tyr1744Cys)	SNV Germline	Chr1:102879726	Conflicting classifications of pathogenicity	Condition: not provided Intervertebral disc disorder Marshall syndrome Stickler syndrome type 2 Fibrochondrogenesis 1 Hearing loss, autosomal dominant 37	Criteria Provided Conflicting Classifications	CA973287	rs_769329430	2 SubmittersRCV002040508 RCV004796706
NM_001844.5(COL2A1):c.3597+1G>C	SNV Germline	Chr12:47975962	Pathogenic	Condition: not provided COL2A1-related disorder Stickler syndrome	Criteria Provided Multiple Submitters No Conflicts	CA384537250	rs_1555164874	3 SubmittersRCV002002522 RCV004538681 RCV005250220
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	CA384544367	rs_886041429	2 SubmittersRCV002003098 RCV002246638
NM_001854.4(COL11A1):c.5094C>A (p.Phe1698Leu)	SNV Germline	Chr1:102879863	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Stickler syndrome type 2	Criteria Provided Conflicting Classifications	CA973305	rs_768649832	3 SubmittersRCV001952934 RCV005331067 RCV005361854
NM_001844.5(COL2A1):c.3436-1G>A	SNV Germline	Chr12:47976568	Pathogenic	Condition: not provided Stickler syndrome type 1	Criteria Provided Multiple Submitters No Conflicts	CA384537582	rs_2136516942	2 SubmittersRCV002023134 RCV004565180
NM_001844.5(COL2A1):c.972T>C (p.Gly324=)	SNV Germline	Chr12:47992929	Conflicting classifications of pathogenicity	Condition: not provided Stickler syndrome type 1	Criteria Provided Conflicting Classifications	CA479479239	rs_2136605039	2 SubmittersRCV002075837 RCV005232832
NM_001844.5(COL2A1):c.1258G>T (p.Gly420Ter)	SNV Germline	Chr12:47987277	Pathogenic	Stickler syndrome type 1	Criteria Provided Single Submitter	CA384554157	rs_867799325	1 SubmittersRCV002471749
NM_001854.4(COL11A1):c.1351-1G>A	SNV Germline	Chr1:103017883	Conflicting classifications of pathogenicity	Stickler syndrome type 2 Marshall syndrome Hearing loss, autosomal dominant 37 Condition: not provided	Criteria Provided Conflicting Classifications	CA341179738	rs_1666692498	3 SubmittersRCV002227825 RCV006255381
NM_001853.4(COL9A3):c.268C>T (p.Arg90Ter)	SNV Germline	Chr20:62819941	Pathogenic	Stickler syndrome Stickler syndrome, type 6 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA9949124	rs_763259234	4 SubmittersRCV002238720 RCV002279980 RCV003093927
NM_001853.4(COL9A3):c.1729C>T (p.Arg577Ter)	SNV Germline	Chr20:62837208	Pathogenic/Likely pathogenic	Stickler syndrome, type 6 Stickler syndrome Condition: not provided Epiphyseal dysplasia, multiple, 3 Intervertebral disc disorder	Criteria Provided Multiple Submitters No Conflicts	CA409599468	rs_1201247953	5 SubmittersRCV002279981 RCV002238721 RCV003093928 RCV002502051
NM_001844.5(COL2A1):c.2519G>A (p.Gly840Asp)	SNV Germline	Chr12:47980660	Likely pathogenic	Stickler syndrome type 1	Criteria Provided Single Submitter	CA384544556	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	CA384551516	rs_2136567807	1 SubmittersRCV002249002
NM_001844.5(COL2A1):c.1484G>A (p.Gly495Glu)	SNV Germline	Chr12:47986379	Pathogenic/Likely pathogenic	Stickler syndrome type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA384552620	rs_2136571080	2 SubmittersRCV002249003 RCV005095815
NM_001844.5(COL2A1):c.4171T>C (p.Tyr1391His)	SNV Germline	Chr12:47974235	Pathogenic	Stickler syndrome type 1	Criteria Provided Single Submitter	CA384533712	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	CA384552567	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	CA384523264	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	CA341159576	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	CA341170793	rs_2101406339	1 SubmittersRCV002272626
NM_001853.4(COL9A3):c.1204C>T (p.Arg402Ter)	SNV Germline	Chr20:62830402	Pathogenic	Stickler syndrome, type 6 Condition: not provided	Criteria Provided Single Submitter	CA317334770	rs_989413835	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	CA384523999	rs_2540175543	1 SubmittersRCV002283666
NM_001844.5(COL2A1):c.2895+1G>C	SNV Germline	Chr12:47978596	Pathogenic	Stickler syndrome type 1	Criteria Provided Single Submitter	CA384541711	rs_2540113039	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	CA341175433	rs_2525433209	2 SubmittersRCV002288378 RCV004529122
NM_001844.5(COL2A1):c.1966C>T (p.Gln656Ter)	SNV Germline	Chr12:47983712	Pathogenic/Likely pathogenic	Stickler syndrome type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA384548497	rs_2540139953	2 SubmittersRCV002290174 RCV006470450
NM_001844.5(COL2A1):c.429+2T>G	SNV Germline	Chr12:47997869	Likely pathogenic	Stickler syndrome type 1	Criteria Provided Single Submitter	CA384524928	rs_2540181315	1 SubmittersRCV002290202
NM_001844.5(COL2A1):c.388G>T (p.Glu130Ter)	SNV Germline	Chr12:47997912	Pathogenic/Likely pathogenic	Stickler syndrome type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA384525025	rs_375448469	2 SubmittersRCV002290288 RCV005096069
NM_001844.5(COL2A1):c.293-2A>T	SNV Germline	Chr12:47998433	Likely pathogenic	Stickler syndrome type 1	No Assertion Criteria Provided	CA384525607	rs_2540183621	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	CA384552983	rs_2540149390	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	CA384553266	rs_2540150852	1 SubmittersRCV002471635
NM_001844.5(COL2A1):c.925-1G>A	SNV Germline	Chr12:47993503	Pathogenic	Stickler syndrome type 1	Criteria Provided Single Submitter	CA384521846	rs_2540167332	1 SubmittersRCV002471691
NM_001844.5(COL2A1):c.2625+2T>C	SNV Germline	Chr12:47980552	Likely pathogenic	Stickler syndrome type 1	Criteria Provided Single Submitter	CA384544333	rs_2540121985	1 SubmittersRCV002471804
NM_001844.5(COL2A1):c.565G>T (p.Glu189Ter)	SNV Germline	Chr12:47996592	Pathogenic	Stickler syndrome, type I, nonsyndromic ocular Stickler syndrome	Criteria Provided Multiple Submitters No Conflicts	CA384524217	rs_2540177721	2 SubmittersRCV002471956 RCV006442803
NM_001844.5(COL2A1):c.1527+1G>A	SNV Germline	Chr12:47986335	Likely pathogenic	Stickler syndrome, type I, nonsyndromic ocular Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA384552350	rs_2540148810	2 SubmittersRCV002472045 RCV005098458
NM_001844.5(COL2A1):c.785A>G (p.Lys262Arg)	SNV Germline	Chr12:47994455	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Stickler syndrome, type I, nonsyndromic ocular	Criteria Provided Conflicting Classifications	CA6535783	rs_769679774	3 SubmittersRCV002590171 RCV004065618 RCV005869871
NM_001854.4(COL11A1):c.1630-1G>T	SNV Germline	Chr1:103008517	Pathogenic	Condition: not provided Stickler syndrome	Criteria Provided Multiple Submitters No Conflicts	CA341175627	rs_2101869722	2 SubmittersRCV002614368 RCV006281040
NM_001854.4(COL11A1):c.2203C>G (p.Pro735Ala)	SNV Germline	Chr1:102997118	Conflicting classifications of pathogenicity	Condition: not provided Marshall syndrome Fibrochondrogenesis 1 Stickler syndrome type 2 Hearing loss, autosomal dominant 37 Intervertebral disc disorder	Criteria Provided Conflicting Classifications	CA974541	rs_752066122	2 SubmittersRCV002720665 RCV005034382
NM_001851.6(COL9A1):c.2617C>T (p.Arg873Ter)	SNV Germline	Chr6:70217046	Conflicting classifications of pathogenicity	Condition: not provided Retinal dystrophy Stickler syndrome	Criteria Provided Conflicting Classifications	CA364668082	rs_200829297	3 SubmittersRCV002754948 RCV004817105 RCV005356187
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	CA384523793	rs_2540174635	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	CA384546974	rs_1489630072	2 SubmittersRCV003050291 RCV003989800
NM_001854.4(COL11A1):c.4052G>T (p.Gly1351Val)	SNV Germline	Chr1:102912193	Conflicting classifications of pathogenicity	Condition: not provided Stickler syndrome type 2	Criteria Provided Conflicting Classifications	CA341160212	rs_2524455621	2 SubmittersRCV003145096 RCV004786879
NM_001854.4(COL11A1):c.3512G>A (p.Gly1171Asp)	SNV Germline	Chr1:102934537	Likely pathogenic	Stickler syndrome type 2	Criteria Provided Single Submitter	CA341168114	rs_2524688567	1 SubmittersRCV003330334
NM_001854.4(COL11A1):c.268T>A (p.Phe90Ile)	SNV Germline	Chr1:103082811	Conflicting classifications of pathogenicity	Condition: not provided Marshall syndrome Stickler syndrome type 2	Criteria Provided Conflicting Classifications	CA975516	rs_373790561	3 SubmittersRCV003237211 RCV005429104
NM_001844.5(COL2A1):c.655-2A>G	SNV Germline	Chr12:47995765	Pathogenic	Stickler syndrome type 1	No Assertion Criteria Provided	CA384523810	rs_2136618395	1 SubmittersRCV003388641
NM_001844.5(COL2A1):c.309+1G>A	SNV Germline	Chr12:47998414	Pathogenic/Likely pathogenic	Stickler syndrome type 1 COL2A1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA384525522	rs_2540183519	2 SubmittersRCV005254781 RCV004528020
NM_001851.6(COL9A1):c.1450-1G>T	SNV Germline	Chr6:70256822	Likely pathogenic	Stickler syndrome, type 4	Criteria Provided Single Submitter	CA364678549	rs_755976129	1 SubmittersRCV003447689
NM_001854.4(COL11A1):c.3762+2T>C	SNV Germline	Chr1:102920309	Pathogenic/Likely pathogenic	Stickler syndrome type 2	Criteria Provided Multiple Submitters No Conflicts	CA341163614	rs_2524540006	2 SubmittersRCV003482200
NM_001854.4(COL11A1):c.4186G>A (p.Gly1396Ser)	SNV Germline	Chr1:102898728	Conflicting classifications of pathogenicity	Condition: not provided not specified Marshall syndrome Hearing loss, autosomal dominant 37 Stickler syndrome type 2 Intervertebral disc disorder Fibrochondrogenesis 1	Criteria Provided Conflicting Classifications	CA973637	rs_763199410	3 SubmittersRCV003836530 RCV003994594 RCV004796851
NM_001854.4(COL11A1):c.2702G>A (p.Gly901Glu)	SNV Germline	Chr1:102978867	Likely pathogenic	Stickler syndrome type 2 Marshall syndrome	Criteria Provided Multiple Submitters No Conflicts	CA341163198	rs_2525109250	2 SubmittersRCV003988754 RCV004787086
NM_001844.5(COL2A1):c.1527+1G>C	SNV Germline	Chr12:47986335	Likely pathogenic	Stickler syndrome type 1	Criteria Provided Single Submitter	CA384552348	rs_2540148810	1 SubmittersRCV003994720
NM_001854.4(COL11A1):c.1951C>T (p.Arg651Ter)	SNV Germline	Chr1:103003262	Pathogenic/Likely pathogenic	Stickler syndrome type 2 Marshall syndrome COL11A1-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA341171784	rs_2525370664	3 SubmittersRCV004556009 RCV004736693 RCV005100829
NM_001854.4(COL11A1):c.4547G>A (p.Gly1516Asp)	SNV Germline	Chr1:102888730	Likely pathogenic	Stickler syndrome type 2	No Assertion Criteria Provided			1 SubmittersRCV004768458
NM_001854.4(COL11A1):c.3762+1G>A	SNV Germline	Chr1:102920310	Likely pathogenic	Stickler syndrome type 2	No Assertion Criteria Provided			1 SubmittersRCV004768459
NM_001854.4(COL11A1):c.4384G>T (p.Gly1462Cys)	SNV Unknown	Chr1:102889535	Likely pathogenic	Stickler syndrome type 2	No Assertion Criteria Provided			1 SubmittersRCV004768460
NM_001854.4(COL11A1):c.4537G>T (p.Gly1513Cys)	SNV Germline	Chr1:102888740	Pathogenic	Stickler syndrome type 2	No Assertion Criteria Provided			1 SubmittersRCV004768471
NM_001854.4(COL11A1):c.3277-1G>C	SNV Unknown	Chr1:102940435	Likely pathogenic	Stickler syndrome type 2	No Assertion Criteria Provided			1 SubmittersRCV004768473
NM_001844.5(COL2A1):c.2895+1G>T	SNV Germline	Chr12:47978596	Pathogenic	Stickler syndrome type 1	Criteria Provided Single Submitter			1 SubmittersRCV004776390
NM_001854.4(COL11A1):c.2882G>A (p.Gly961Asp)	SNV Germline	Chr1:102965521	Likely pathogenic	Stickler syndrome type 2	Criteria Provided Single Submitter			1 SubmittersRCV004781977
NM_001854.4(COL11A1):c.2027G>A (p.Gly676Glu)	SNV Germline	Chr1:103002763	Likely pathogenic	Stickler syndrome type 2	Criteria Provided Single Submitter			1 SubmittersRCV004788203
NM_001854.4(COL11A1):c.2135G>C (p.Gly712Ala)	SNV Germline	Chr1:103001932	Likely pathogenic	Stickler syndrome type 2	Criteria Provided Single Submitter			1 SubmittersRCV004788214
NM_001854.4(COL11A1):c.1603G>C (p.Gly535Arg)	SNV Germline	Chr1:103012439	Likely pathogenic	Stickler syndrome type 2	Criteria Provided Single Submitter			1 SubmittersRCV004788519
NM_001854.4(COL11A1):c.3276+2T>G	SNV Germline	Chr1:102946847	Likely pathogenic	Stickler syndrome type 2	Criteria Provided Single Submitter			1 SubmittersRCV004790094
NM_001854.4(COL11A1):c.3071G>A (p.Gly1024Glu)	SNV Germline	Chr1:102962219	Likely pathogenic	Stickler syndrome type 2	Criteria Provided Single Submitter			1 SubmittersRCV004790102
NM_001844.5(COL2A1):c.1527+2T>A	SNV Germline	Chr12:47986334	Likely pathogenic	Stickler syndrome type 1	Criteria Provided Single Submitter			1 SubmittersRCV004795509
NM_001854.4(COL11A1):c.1245+1G>T	SNV Germline	Chr1:103022741	Pathogenic/Likely pathogenic	Stickler syndrome Fibrochondrogenesis 1	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV004800223 RCV005623118
NM_001854.4(COL11A1):c.2549G>A (p.Gly850Asp)	SNV Germline	Chr1:102984145	Likely pathogenic	Stickler syndrome type 2	No Assertion Criteria Provided			1 SubmittersRCV005227163
NM_001853.4(COL9A3):c.1486G>C (p.Gly496Arg)	SNV Germline	Chr20:62836271	Likely pathogenic	Stickler syndrome, type 6	Criteria Provided Single Submitter			1 SubmittersRCV005247940
NM_001854.4(COL11A1):c.3646G>T (p.Gly1216Cys)	SNV Germline	Chr1:102923344	Likely pathogenic	Stickler syndrome type 2	Criteria Provided Single Submitter			1 SubmittersRCV005251562
NM_001844.5(COL2A1):c.4075-2A>C	SNV Germline	Chr12:47974333	Likely pathogenic	Stickler syndrome type 1	Criteria Provided Single Submitter			1 SubmittersRCV005400681
NM_004525.3(LRP2):c.7965T>G (p.Cys2655Trp)	SNV Germline	Chr2:169204022	Likely pathogenic	Stickler syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005623051
NM_001854.4(COL11A1):c.807T>A (p.Tyr269Ter)	SNV Germline	Chr1:103026306	Pathogenic	Stickler syndrome type 2	Criteria Provided Single Submitter			1 SubmittersRCV005638821
NM_001844.5(COL2A1):c.1466G>A (p.Gly489Asp)	SNV Germline	Chr12:47986397	Likely pathogenic	Stickler syndrome, type I, nonsyndromic ocular	Criteria Provided Single Submitter			1 SubmittersRCV005646028
NM_001844.5(COL2A1):c.2518-1G>A	SNV Germline	Chr12:47980662	Pathogenic	Stickler syndrome type 1	Criteria Provided Single Submitter			1 SubmittersRCV005860586
NM_001844.5(COL2A1):c.1165C>T (p.Gln389Ter)	SNV Germline	Chr12:47987667	Pathogenic	Stickler syndrome type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005860995 RCV006489996
NM_001844.5(COL2A1):c.3041G>A (p.Gly1014Glu)	SNV Germline	Chr12:47978080	Pathogenic	Stickler syndrome type 1	Criteria Provided Single Submitter			1 SubmittersRCV005859553
NM_001844.5(COL2A1):c.1438G>C (p.Gly480Arg)	SNV Germline	Chr12:47986425	Likely pathogenic	Stickler syndrome type 1	Criteria Provided Single Submitter			1 SubmittersRCV005859823
NM_000088.4(COL1A1):c.1786G>A (p.Gly596Arg)	SNV Germline	Chr17:50193029	Likely pathogenic	Stickler syndrome type 2	Criteria Provided Single Submitter			1 SubmittersRCV005864402
NM_001854.4(COL11A1):c.3168+1G>C	SNV Germline	Chr1:102961865	Likely pathogenic	Marshall syndrome Stickler syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005938234
NM_001854.4(COL11A1):c.1939G>T (p.Glu647Ter)	SNV Germline	Chr1:103004449	Likely pathogenic	Hearing loss, autosomal dominant 37 Marshall syndrome Stickler syndrome type 2	Criteria Provided Single Submitter			1 SubmittersRCV005938360
NM_001853.4(COL9A3):c.1A>G (p.Met1Val)	SNV Germline	Chr20:62817065	Likely pathogenic	Stickler syndrome, type 6	Criteria Provided Single Submitter			1 SubmittersRCV006249150
NM_001844.5(COL2A1):c.2716G>T (p.Gly906Ter)	SNV Germline	Chr12:47979528	Pathogenic	Stickler syndrome, type I, nonsyndromic ocular	Criteria Provided Single Submitter			1 SubmittersRCV006257628
NM_001854.4(COL11A1):c.1441G>A (p.Gly481Arg)	SNV Germline	Chr1:103015715	Likely pathogenic	Stickler syndrome type 2	Criteria Provided Single Submitter			1 SubmittersRCV006257853
NM_001844.5(COL2A1):c.691G>C (p.Gly231Arg)	SNV Germline	Chr12:47995727	Pathogenic	Stickler syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006278367
NM_001844.5(COL2A1):c.2193+1G>C	SNV Germline	Chr12:47982847	Likely pathogenic	Stickler syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006437325
NM_001854.4(COL11A1):c.4034G>T (p.Gly1345Val)	SNV Germline	Chr1:102912211	Likely pathogenic	Stickler syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006439097
NM_001844.5(COL2A1):c.4010G>A (p.Trp1337Ter)	SNV Germline	Chr12:47974739	Pathogenic	Stickler syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006439114
NM_001854.4(COL11A1):c.2808+6T>G	SNV Germline	Chr1:102974824	Likely pathogenic	Stickler syndrome type 2 Marshall syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006553742
NM_001844.5(COL2A1):c.3109G>T (p.Glu1037Ter)	SNV Germline	Chr12:47978012	Likely pathogenic	Stickler syndrome type 1	Criteria Provided Single Submitter			1 SubmittersRCV006553798
NM_001854.4(COL11A1):c.3458G>C (p.Gly1153Ala)	SNV Germline	Chr1:102935094	Likely pathogenic	Stickler syndrome type 2	Criteria Provided Single Submitter			1 SubmittersRCV006554914
NM_001844.5(COL2A1):c.3166-1G>C	SNV Unknown	Chr12:47977428	Pathogenic	Stickler syndrome type 1	Criteria Provided Single Submitter			1 SubmittersRCV006597632

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
Stickler syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA281739

rs_121912866

6 SubmittersRCV000018899 RCV000726311 RCV006439577

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
Spondyloepimetaphyseal dysplasia, Strudwick type
Connective tissue disorder
Stickler syndrome type 1
Namaqualand hip dysplasia
Type 2 collagenopathy
Inborn genetic diseases
COL2A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA250671

rs_121912870

14 SubmittersRCV000018905 RCV000484896 RCV001729352 RCV002276564 RCV002247358 RCV002272023 RCV003320353 RCV005318312 RCV005867784

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

SNV
Germline

Chr12:47994440

Pathogenic

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

Criteria Provided
Single Submitter

CA127156

rs_121912872

2 SubmittersRCV000018908 RCV006461178

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

SNV
Germline

Chr12:47994041

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA127158

rs_121912876

9 SubmittersRCV000018912 RCV000988828 RCV001385337 RCV003323361 RCV003228897

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

CA384552989

rs_794727377

3 SubmittersRCV000018913 RCV002247359 RCV002513112

NM_001844.5(COL2A1):c.908G>A (p.Gly303Asp)

SNV
Germline

Chr12:47993825

Pathogenic

Kniest dysplasia
Condition: not provided
Stickler syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA127160

rs_121912877

4 SubmittersRCV000018914 RCV000724305 RCV006436389

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

CA384554296

rs_2136577259

3 SubmittersRCV000018917 RCV002513113

NM_001844.5(COL2A1):c.1510G>T (p.Gly504Cys)

SNV
Germline

Chr12:47986353

Conflicting classifications of pathogenicity

Condition: not provided
Stickler syndrome type 1
Spondyloepimetaphyseal dysplasia, Strudwick type

Criteria Provided
Conflicting Classifications

CA250682

rs_121912880

3 SubmittersRCV000380315 RCV005859469 RCV002509164

NM_001844.5(COL2A1):c.2710C>T (p.Arg904Cys)

SNV
Germline

Chr12:47979534

Pathogenic

Multiple epiphyseal dysplasia, Beighton type
Myopia
Condition: not provided
Stickler syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA127163

rs_121912882

9 SubmittersRCV000018922 RCV000414959 RCV000513905 RCV004595885

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

SNV
Germline

Chr12:47985727

Pathogenic

Stickler syndrome type 1
Condition: not provided

Criteria Provided
Single Submitter

CA384551312

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
Achondrogenesis type II
Retinal dystrophy
Stickler syndrome, type I, nonsyndromic ocular
COL2A1-related disorder
Stickler syndrome
15 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA281746

rs_121912884

15 SubmittersRCV000018926 RCV000413561 RCV001197973 RCV001074673 RCV001807733 RCV004528123 RCV006277651 RCV006261722

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
Stickler syndrome
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA127176

rs_121912893

9 SubmittersRCV000018938 RCV000018939 RCV000481275 RCV000762896 RCV004689424 RCV004975261

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

SNV
Germline

Chr12:47995310

Pathogenic

Stickler syndrome type 1
Condition: not provided

Criteria Provided
Single Submitter

CA384523481

rs_1592232116

2 SubmittersRCV000018942 RCV005647965

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

SNV
Germline

Chr12:47975315

Pathogenic

Stickler syndrome, type I, nonsyndromic ocular

No Assertion Criteria Provided

CA384536253

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
Stickler syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA127183

rs_121912897

8 SubmittersRCV000018945 RCV000657640 RCV002470714 RCV004532390 RCV006277652

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
COL11A1-related disorder
Stickler syndrome type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA281108

rs_398122828

10 SubmittersRCV000032995 RCV000579344 RCV000623510 RCV003313929 RCV002468558

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

SNV
Germline

Chr12:47974685

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA221742

rs_201646745

5 SubmittersRCV000079727 RCV000283561 RCV003242977 RCV006456686

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

SNV
Germline

Chr1:103082864

Conflicting classifications of pathogenicity

Condition: not provided
Stickler syndrome type 2
Fibrochondrogenesis 1
Skeletal dysplasia

Criteria Provided
Conflicting Classifications

CA221845

rs_56230601

5 SubmittersRCV000079907 RCV000269415 RCV000329141 RCV005625277

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_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
not specified

Criteria Provided
Conflicting Classifications

CA233798

rs_147637674

7 SubmittersRCV000313074 RCV000349030 RCV000680458 RCV000723756 RCV006268631

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

SNV
Germline

Chr1:40303158

Conflicting classifications of pathogenicity

Condition: not provided
Stickler syndrome, type 5
COL9A2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA243036

rs_141556170

6 SubmittersRCV000176927 RCV001507016 RCV004739559 RCV006263719

NM_001844.5(COL2A1):c.1962C>T (p.Gly654=)

SNV
Germline

Chr12:47983716

Conflicting classifications of pathogenicity

Condition: not provided
Stickler syndrome
COL2A1-related disorder
15 conditions

Criteria Provided
Conflicting Classifications

CA243640

rs_794727533

6 SubmittersRCV000177457 RCV006436689 RCV004734793 RCV006261740

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

SNV
Germline

Chr12:47982517

Conflicting classifications of pathogenicity

Condition: not provided
Stickler syndrome type 1
Type 2 collagenopathy

Criteria Provided
Conflicting Classifications

CA244668

rs_371835359

3 SubmittersRCV000177768 RCV000382831 RCV006456785

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

SNV
Germline

Chr12:47979573

Conflicting classifications of pathogenicity

Condition: not provided
Stickler syndrome type 1
COL2A1-related disorder
Type 2 collagenopathy

Criteria Provided
Conflicting Classifications

CA245565

rs_369022247

5 SubmittersRCV000723611 RCV001110028 RCV004537465 RCV006456787

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

SNV
Germline

Chr12:47978015

Pathogenic

Condition: not provided
Stickler syndrome type 1
Stickler syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA303000

rs_748459670

8 SubmittersRCV000479858 RCV000988819 RCV006439709

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
Marshall syndrome
Fibrochondrogenesis 1
Stickler syndrome type 2
not specified

Criteria Provided
Conflicting Classifications

CA246297

rs_150669855

9 SubmittersRCV000179067 RCV000303130 RCV000395394 RCV002508926 RCV004700543

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

8 SubmittersRCV000179579 RCV000306668 RCV000364746 RCV000897631 RCV004020151

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
not specified

Criteria Provided
Conflicting Classifications

CA246966

rs_140250347

11 SubmittersRCV000179660 RCV000271060 RCV000357636 RCV000680455 RCV001262338 RCV004539684 RCV006268653

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

Criteria Provided
Conflicting Classifications

CA247139

rs_183130583

8 SubmittersRCV000179833 RCV001102150 RCV001102151 RCV003488432 RCV004539687 RCV005031715

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_001844.5(COL2A1):c.2574C>T (p.Gly858=)

SNV
Germline

Chr12:47980605

Conflicting classifications of pathogenicity

not specified
Connective tissue disorder
Condition: not provided
Stickler syndrome type 1
Type 2 collagenopathy
Melanoma

Criteria Provided
Conflicting Classifications

CA6535052

rs_141423593

12 SubmittersRCV000239357 RCV000659400 RCV000959727 RCV001110809 RCV006456888 RCV005891009

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

SNV
Germline

Chr1:102940447

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA974068

rs_371455495

6 SubmittersRCV000242571 RCV000264812 RCV000322167 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 2 collagenopathy

Criteria Provided
Conflicting Classifications

CA6534943

rs_201719788

5 SubmittersRCV000249904 RCV000918676 RCV001114065 RCV006456901

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

9 SubmittersRCV000254258 RCV000894899 RCV000988827 RCV003320624

NM_001844.5(COL2A1):c.544C>T (p.Gln182Ter)

SNV
Germline

Chr12:47996613

Pathogenic

Condition: not provided
Stickler syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10603196

rs_886041843

3 SubmittersRCV000405387 RCV005863080

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_001851.6(COL9A1):c.1634G>A (p.Arg545His)

SNV
Germline

Chr6:70254994

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3882097

rs_145698301

6 SubmittersRCV000344967 RCV000764653 RCV002518868

NM_001844.5(COL2A1):c.3574C>T (p.Arg1192Ter)

SNV
Germline

Chr12:47975986

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10604522

rs_886042651

6 SubmittersRCV000357221 RCV001849362 RCV004734925 RCV005869209

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
COL2A1-related disorder
not specified
Type 2 collagenopathy

Criteria Provided
Conflicting Classifications

CA6536076

rs_202210896

9 SubmittersRCV000659384 RCV000725382 RCV001114415 RCV004535312 RCV005238832 RCV006456928

NM_001851.6(COL9A1):c.2585A>C (p.Asp862Ala)

SNV
Germline

Chr6:70217078

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
COL9A1-related disorder
Stickler syndrome
Uterine corpus endometrial carcinoma

Criteria Provided
Conflicting Classifications

CA3881713

rs_202176764

9 SubmittersRCV000360027 RCV002518942 RCV003930102 RCV005365224 RCV005895668

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

SNV
Germline

Chr12:47985774

Conflicting classifications of pathogenicity

Condition: not provided
Stickler syndrome type 1
Type 2 collagenopathy

Criteria Provided
Conflicting Classifications

CA6535435

rs_145042175

7 SubmittersRCV000322902 RCV000373035 RCV006456933

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

SNV
Germline

Chr12:47977118

Pathogenic/Likely pathogenic

Condition: not provided
Spondyloperipheral dysplasia
Stickler syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10605424

rs_886043356

3 SubmittersRCV000377732 RCV003152704 RCV000988818

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

SNV
Germline

Chr12:47982109

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10605488

rs_886043410

5 SubmittersRCV000579307 RCV003380537 RCV004796151

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

SNV
Germline

Chr12:47975417

Conflicting classifications of pathogenicity

Stickler syndrome type 1
Connective tissue disorder
Type 2 collagenopathy
Condition: not provided
COL2A1-related disorder

Criteria Provided
Conflicting Classifications

CA6534642

rs_139114389

7 SubmittersRCV000313638 RCV000659407 RCV006456945 RCV000726063 RCV004535396

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

SNV
Germline

Chr1:102995882

Conflicting classifications of pathogenicity

Fibrochondrogenesis 1
Condition: not provided
Stickler syndrome type 2

Criteria Provided
Conflicting Classifications

CA974486

rs_140608161

4 SubmittersRCV000364378 RCV000726319 RCV000396413

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

SNV
Germline

Chr1:102923351

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA973919

rs_143651470

7 SubmittersRCV000287252 RCV000343729 RCV000726358 RCV000342326

NM_001854.4(COL11A1):c.4554+1G>C

SNV
Germline

Chr1:102888722

Pathogenic/Likely pathogenic

Condition: not provided
Neurodevelopmental disorder
Stickler syndrome type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA10606524

rs_886044244

4 SubmittersRCV000301688 RCV001778881 RCV004767219

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

4 SubmittersRCV000265566 RCV000361283 RCV002061149

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

SNV
Germline

Chr1:102878002

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA973235

rs_190728953

3 SubmittersRCV000312598 RCV001705438 RCV000394113 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
not specified
Condition: not provided
COL11A1-related disorder

Criteria Provided
Conflicting Classifications

CA974003

rs_375675171

6 SubmittersRCV000348216 RCV000406086 RCV006263838 RCV001590910 RCV004737427

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

3 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
Fibrochondrogenesis 1
Hearing loss, autosomal dominant 37
Marshall syndrome
Intervertebral disc disorder
Stickler syndrome type 2
COL11A1-related disorder

Criteria Provided
Conflicting Classifications

CA973631

rs_200496207

11 SubmittersRCV000368686 RCV000393287 RCV000488030 RCV002519362 RCV002480062 RCV004737426

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

7 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
Condition: not provided
COL11A1-related disorder
not specified
Meniere disease
Fibrochondrogenesis 1
Connective tissue disorder

Criteria Provided
Conflicting Classifications

CA975481

rs_141978499

11 SubmittersRCV000351685 RCV000513856 RCV004537629 RCV005431600 RCV004567844 RCV000404285 RCV000680462

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
not specified

Criteria Provided
Conflicting Classifications

CA974721

rs_199875795

3 SubmittersRCV000290623 RCV000393400 RCV001859737 RCV004689707

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
COL11A1-related disorder
Meniere disease

Criteria Provided
Conflicting Classifications

CA974978

rs_149558726

6 SubmittersRCV000275597 RCV000330638 RCV000494431 RCV004737428 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
not specified

Criteria Provided
Conflicting Classifications

CA975398

rs_779282500

5 SubmittersRCV000324984 RCV000384258 RCV001859739 RCV003258737 RCV005238863

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

SNV
Germline

Chr1:103025628

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA975201

rs_200242905

5 SubmittersRCV000315727 RCV000374868 RCV000615388 RCV000659308 RCV002059316

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

SNV
Germline

Chr1:102915659

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA974092

rs_144562769

6 SubmittersRCV000291280 RCV000343870 RCV001823132 RCV003228921 RCV005418060

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

Criteria Provided
Conflicting Classifications

CA974667

rs_201849355

4 SubmittersRCV000317432 RCV000378977 RCV001409133 RCV005033856

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
Retinal dystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA975293

rs_199539580

5 SubmittersRCV000321904 RCV000376489 RCV004816520 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
Connective tissue disorder
not specified
Meniere disease
Condition: not provided

Criteria Provided
Conflicting Classifications

CA975345

rs_141304474

6 SubmittersRCV000287951 RCV000403940 RCV002278329 RCV004525918 RCV004567843 RCV001660560

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

Criteria Provided
Conflicting Classifications

CA791455

rs_373264436

8 SubmittersRCV000763903 RCV001315749 RCV003940120 RCV000372533 RCV000478668 RCV005891695

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

SNV
Germline

Chr1:40304832

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA791577

rs_375476174

5 SubmittersRCV000360126 RCV000509212 RCV000498672 RCV002520489

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

SNV
Germline

Chr6:70281014

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3882594

rs_192047082

8 SubmittersRCV000991647 RCV001375076 RCV003447524 RCV002278615 RCV003950271 RCV004767244

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

SNV
Germline

Chr12:47974156

Conflicting classifications of pathogenicity

Stickler syndrome type 1
Condition: not provided
Type 2 collagenopathy

Criteria Provided
Conflicting Classifications

CA6534514

rs_537186508

3 SubmittersRCV000354121 RCV001582948 RCV006457000

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 2 collagenopathy

Criteria Provided
Conflicting Classifications

CA6534720

rs_374156023

2 SubmittersRCV000266329 RCV001850630 RCV006458202

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

SNV
Germline

Chr12:47978673

Conflicting classifications of pathogenicity

Stickler syndrome type 1
Condition: not provided
Stickler syndrome, type I, nonsyndromic ocular
Type 2 collagenopathy

Criteria Provided
Conflicting Classifications

CA6534977

rs_533540496

3 SubmittersRCV000289195 RCV002056296 RCV004549667 RCV006458207

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

SNV
Germline

Chr12:47985719

Conflicting classifications of pathogenicity

Stickler syndrome type 1
COL2A1-related disorder
Type 2 collagenopathy

Criteria Provided
Conflicting Classifications

CA6535425

rs_371857655

2 SubmittersRCV000379960 RCV004544529 RCV006458214

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

SNV
Germline

Chr12:47985720

Conflicting classifications of pathogenicity

Stickler syndrome type 1
COL2A1-related disorder
Condition: not provided
Type 2 collagenopathy

Criteria Provided
Conflicting Classifications

CA6535426

rs_754310324

3 SubmittersRCV000376050 RCV004544530 RCV005639012 RCV006458215

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

SNV
Germline

Chr12:48004227

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6536118

rs_769941617

7 SubmittersRCV000285542 RCV000680498 RCV000611318 RCV000919210 RCV006458228

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

SNV
Germline

Chr12:47973496

Conflicting classifications of pathogenicity

Stickler syndrome type 1
Condition: not provided
Type 2 collagenopathy

Criteria Provided
Conflicting Classifications

CA6534469

rs_148838496

3 SubmittersRCV000312017 RCV001235510 RCV006456998

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

SNV
Germline

Chr12:47974142

Conflicting classifications of pathogenicity

Stickler syndrome type 1
Condition: not provided
Type 2 collagenopathy

Criteria Provided
Conflicting Classifications

CA6534511

rs_754466377

2 SubmittersRCV000396722 RCV001344740 RCV006456999

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

SNV
Germline

Chr12:47975467

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6534653

rs_147569641

9 SubmittersRCV000397377 RCV000438916 RCV000680493 RCV000893653 RCV006458199

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

SNV
Germline

Chr12:47982522

Conflicting classifications of pathogenicity

Stickler syndrome type 1
Condition: not provided
Type 2 collagenopathy

Criteria Provided
Conflicting Classifications

CA6535166

rs_751436440

4 SubmittersRCV000343300 RCV002262963 RCV006458210

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

SNV
Germline

Chr12:47986901

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6535495

rs_200984998

5 SubmittersRCV000269517 RCV000659392 RCV001398631 RCV006458218

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

SNV
Germline

Chr12:47989273

Conflicting classifications of pathogenicity

Stickler syndrome type 1
Condition: not provided
not specified
Type 2 collagenopathy

Criteria Provided
Conflicting Classifications

CA6535612

rs_202002349

3 SubmittersRCV000265928 RCV002056298 RCV005407037 RCV006458219

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

SNV
Germline

Chr12:47994437

Conflicting classifications of pathogenicity

Stickler syndrome type 1
14 conditions
Condition: not provided
COL2A1-related disorder
Type 2 collagenopathy

Criteria Provided
Conflicting Classifications

CA6535779

rs_142770543

6 SubmittersRCV000351659 RCV000763850 RCV000976095 RCV004537733 RCV006458222

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

SNV
Germline

Chr12:47978074

Conflicting classifications of pathogenicity

Stickler syndrome type 1
Condition: not provided
Mendelian syndromes with cleft lip/palate
COL2A1-related disorder
Type 2 collagenopathy

Criteria Provided
Conflicting Classifications

CA6534909

rs_146046296

5 SubmittersRCV000387243 RCV001403750 RCV003314586 RCV004544528 RCV006458206

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

SNV
Germline

Chr12:47981407

Conflicting classifications of pathogenicity

Stickler syndrome type 1
Condition: not provided
Type 2 collagenopathy

Criteria Provided
Conflicting Classifications

CA10641337

rs_886049447

2 SubmittersRCV000356094 RCV001469152 RCV006458209

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

SNV
Germline

Chr12:47984090

Conflicting classifications of pathogenicity

Stickler syndrome type 1
Condition: not provided
Type 2 collagenopathy

Criteria Provided
Conflicting Classifications

CA6535323

rs_368641858

2 SubmittersRCV000273727 RCV002056297 RCV006458213

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

SNV
Germline

Chr12:47985749

Conflicting classifications of pathogenicity

Stickler syndrome type 1
Condition: not provided
Type 2 collagenopathy

Criteria Provided
Conflicting Classifications

CA6535431

rs_756360655

2 SubmittersRCV000282098 RCV003765810 RCV006458216

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

SNV
Germline

Chr12:47986365

Conflicting classifications of pathogenicity

Stickler syndrome type 1
Condition: not provided
Type 2 collagenopathy

Criteria Provided
Conflicting Classifications

CA6535468

rs_768110640

3 SubmittersRCV000312447 RCV001764277 RCV006458217

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

SNV
Germline

Chr12:47999965

Conflicting classifications of pathogenicity

Stickler syndrome type 1
Condition: not provided
COL2A1-related disorder
Type 2 collagenopathy

Criteria Provided
Conflicting Classifications

CA6536069

rs_142161948

6 SubmittersRCV000383362 RCV000757109 RCV004544531 RCV006458227

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

SNV
Germline

Chr12:47973102

Conflicting classifications of pathogenicity

Stickler syndrome type 1
Condition: not provided
Type 2 collagenopathy

Criteria Provided
Conflicting Classifications

CA10642340

rs_532700241

2 SubmittersRCV000309876 RCV003391102 RCV006456990

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

SNV
Germline

Chr12:47974289

Conflicting classifications of pathogenicity

Stickler syndrome type 1
Condition: not provided
Type 2 collagenopathy

Criteria Provided
Conflicting Classifications

CA6534531

rs_778382364

2 SubmittersRCV000357617 RCV001850629 RCV006458197

NM_001844.5(COL2A1):c.3659T>C (p.Met1220Thr)

SNV
Germline

Chr12:47975544

Conflicting classifications of pathogenicity

Stickler syndrome type 1
Condition: not provided
Type 2 collagenopathy

Criteria Provided
Conflicting Classifications

CA10642342

rs_886049445

2 SubmittersRCV000310097 RCV005055861 RCV006458200

NM_001853.4(COL9A3):c.1756A>C (p.Thr586Pro)

SNV
Germline

Chr20:62837235

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Stickler syndrome

Criteria Provided
Conflicting Classifications

CA9950183

rs_145821912

5 SubmittersRCV000997797 RCV002520030 RCV005355661

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
Epiphyseal dysplasia, multiple, 6
Stickler syndrome, type 4

Criteria Provided
Conflicting Classifications

CA3882632

rs_149830493

8 SubmittersRCV000415246 RCV000579034 RCV001334962 RCV004529569 RCV005625584

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

SNV
Germline

Chr1:102978703

Conflicting classifications of pathogenicity

Stickler syndrome type 2
Condition: not provided
Stickler syndrome

Criteria Provided
Conflicting Classifications

CA16043725

rs_1057518666

5 SubmittersRCV000414977 RCV000489508 RCV006277830

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

SNV
Germline

Chr1:102886863

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA973407

rs_143206624

7 SubmittersRCV000439022 RCV000680456 RCV001097884 RCV001097885 RCV004533127 RCV005033955 RCV004022502

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

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

Criteria Provided
Conflicting Classifications

CA791246

rs_201847956

7 SubmittersRCV000477829 RCV001100678 RCV001489852 RCV004568139 RCV004740252 RCV005239060

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

SNV
Germline

Chr12:47987143

Conflicting classifications of pathogenicity

Condition: not provided
Stickler syndrome type 1
Hearing impairment
COL2A1-related disorder
not specified
Type 2 collagenopathy

Criteria Provided
Conflicting Classifications

CA6535523

rs_140985224

9 SubmittersRCV000723634 RCV001110199 RCV001375461 RCV004535536 RCV005239076 RCV006458413

NM_000088.4(COL1A1):c.658C>T (p.Arg220Ter)

SNV
Germline

Chr17:50197770

Pathogenic

Osteogenesis imperfecta type I
Ehlers-Danlos syndrome, arthrochalasia type, 2
Condition: not provided
Osteogenesis imperfecta
Stickler syndrome type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA291547917

rs_72667036

9 SubmittersRCV000490652 RCV001003534 RCV001552353 RCV002279256 RCV004767298

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

SNV
Germline

Chr12:47985811

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA384551753

rs_1085307608

9 SubmittersRCV000489991 RCV002264702 RCV002286574 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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA384547035

rs_1555166537

3 SubmittersRCV000506248 RCV003988849 RCV006463181

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

SNV
Germline

Chr6:70294510

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3882832

rs_143848379

5 SubmittersRCV000732119 RCV000764655 RCV006452706

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

6 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
COL11A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA341212387

rs_1553193910

6 SubmittersRCV000591257 RCV000624108 RCV001799515 RCV001824151 RCV004737861

NM_001854.4(COL11A1):c.2808+1G>A

SNV
Germline

Chr1:102974829

Pathogenic

Condition: not provided
Stickler syndrome type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA341161925

rs_1553223152

3 SubmittersRCV000598697 RCV004767434

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

SNV
Germline

Chr1:102898998

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA973675

rs_137999403

4 SubmittersRCV001101756 RCV000919370 RCV001101757 RCV004533237

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

SNV
Germline

Chr12:47976862

Conflicting classifications of pathogenicity

not specified
Stickler syndrome type 1
Condition: not provided
COL2A1-related disorder
Type 2 collagenopathy

Criteria Provided
Conflicting Classifications

CA6534774

rs_745633496

5 SubmittersRCV000614112 RCV001109933 RCV001474367 RCV004544744 RCV006459655

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

SNV
Germline

Chr12:47992875

Conflicting classifications of pathogenicity

Stickler syndrome type 1
Condition: not provided
Type 2 collagenopathy

Criteria Provided
Conflicting Classifications

CA6535660

rs_374570848

3 SubmittersRCV001112956 RCV001697443 RCV006459648

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

SNV
Germline

Chr12:47977645

Conflicting classifications of pathogenicity

Stickler syndrome type 1
Condition: not provided
not specified
Type 2 collagenopathy
COL2A1-related disorder

Criteria Provided
Conflicting Classifications

CA236521255

rs_367982631

6 SubmittersRCV001112704 RCV001481593 RCV001729657 RCV006459657 RCV004544754

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

SNV
Germline

Chr20:62836196

Pathogenic

Inborn genetic diseases
Stickler syndrome, type 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
Condition: not provided
Type 2 collagenopathy

Criteria Provided
Conflicting Classifications

CA6534656

rs_200993187

5 SubmittersRCV000659405 RCV001113968 RCV001511229 RCV006459778

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

SNV
Germline

Chr12:47977428

Pathogenic

Stickler syndrome type 1

Criteria Provided
Single Submitter

CA384540484

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

CA236524266

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

CA384547778

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
Spondyloepiphyseal dysplasia congenita

Criteria Provided
Multiple Submitters
No Conflicts

CA236528118

rs_1025202963

4 SubmittersRCV000659391 RCV001868174 RCV005253030

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

SNV
Germline

Chr12:47996607

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6535885

rs_201817670

5 SubmittersRCV000659386 RCV001111049 RCV001433646 RCV006459777

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
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA384526460

rs_1246771678

5 SubmittersRCV000659383 RCV001387827 RCV004533444 RCV004609480

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA791930

rs_77937237

7 SubmittersRCV000660517 RCV001099057 RCV001199907 RCV001369753 RCV006367216

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

SNV
Germline

Chr1:102889523

Pathogenic

Stickler syndrome type 2

Criteria Provided
Single Submitter

CA341212718

rs_866783525

1 SubmittersRCV000679954

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

SNV
Germline

Chr12:47994442

Conflicting classifications of pathogenicity

Condition: not provided
Stickler syndrome type 1
Type 2 collagenopathy

Criteria Provided
Conflicting Classifications

CA6535781

rs_376753701

4 SubmittersRCV000728040 RCV001114314 RCV006459867

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

SNV
Germline

Chr12:47974290

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6534532

rs_150237416

6 SubmittersRCV000729624 RCV001109851 RCV002279503 RCV006459869

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

CA364663508

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

CA384547870

rs_1565679039

1 SubmittersRCV000735218

NM_001854.4(COL11A1):c.4084C>T (p.Arg1362Ter)

SNV
Germline

Chr1:102912161

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA973696

rs_755987732

3 SubmittersRCV000760438 RCV005036087

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

SNV
Germline

Chr1:102962705

Likely pathogenic

Stickler syndrome type 2

Criteria Provided
Single Submitter

CA341157875

rs_1557877041

1 SubmittersRCV000761265

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

SNV
Germline

Chr12:47977629

Conflicting classifications of pathogenicity

Stickler syndrome, type I, nonsyndromic ocular

Criteria Provided
Conflicting Classifications

CA384540549

rs_751205887

2 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

CA974754

rs_142506188

4 SubmittersRCV000841256 RCV001102044 RCV001102045 RCV004540139

NM_001852.4(COL9A2):c.1237C>T (p.Pro413Ser)

SNV
Germline

Chr1:40304370

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA791521

rs_201985170

5 SubmittersRCV001002762 RCV001098963 RCV002064415 RCV003948040

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

SNV
Germline

Chr1:103078690

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA975462

rs_751512442

5 SubmittersRCV000905879 RCV001102232 RCV001102231 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

CA975427

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

CA27712511

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

CA341160711

rs_1570712889

2 SubmittersRCV000986390 RCV002290500

NM_001844.5(COL2A1):c.4343C>G (p.Thr1448Ser)

SNV
Germline

Chr12:47973528

Conflicting classifications of pathogenicity

Stickler syndrome type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA384533317

rs_1481212897

3 SubmittersRCV000988817 RCV001858697

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

SNV
Germline

Chr12:47978108

Pathogenic/Likely pathogenic

Stickler syndrome type 1
Condition: not provided
Type 2 collagenopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA6534912

rs_753342774

3 SubmittersRCV000988820 RCV003558623 RCV006249697

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

SNV
Unknown

Chr12:47980008

Pathogenic

Stickler syndrome type 1

Criteria Provided
Single Submitter

CA384544150

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

CA384544391

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

CA384548471

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

CA384537241

rs_1592196867

2 SubmittersRCV000995717 RCV003708556

NM_001844.5(COL2A1):c.1527+135G>A

SNV
Germline

Chr12:47986201

Pathogenic/Likely pathogenic

Stargardt disease
Condition: not provided
Stickler syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA915948787

rs_1592218346

5 SubmittersRCV001002986 RCV001571488 RCV005253675

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

SNV
Germline

Chr12:47980029

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA384544227

rs_1399676515

7 SubmittersRCV001008652 RCV002291290 RCV005408641 RCV005871111 RCV006605312

NM_001851.6(COL9A1):c.460G>C (p.Val154Leu)

SNV
Germline

Chr6:70294403

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA3882804

rs_138583508

7 SubmittersRCV001034447 RCV001700689 RCV003346255 RCV003963000 RCV005626301

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

SNV
Germline

Chr12:47978385

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6534948

rs_371268468

4 SubmittersRCV001041428 RCV001114066 RCV002276596 RCV006455357

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

CA384550450

rs_1939312423

4 SubmittersRCV001074728 RCV001387557 RCV002290588

NM_001844.5(COL2A1):c.1221+1G>A

SNV
Germline

Chr12:47987610

Pathogenic/Likely pathogenic

Retinal dystrophy
Condition: not provided
COL2A1-related disorder
Stickler syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA384554335

rs_1399741348

5 SubmittersRCV001073695 RCV001377071 RCV004734006 RCV006443707

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

CA973288

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

CA419253432

rs_1649996140

2 SubmittersRCV001096133 RCV001096134 RCV002069624

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

SNV
Germline

Chr1:102978727

Conflicting classifications of pathogenicity

Fibrochondrogenesis 1
Stickler syndrome type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA974297

rs_192842970

5 SubmittersRCV001101959 RCV001101958 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

CA974429

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

CA974799

rs_534777436

3 SubmittersRCV001096646 RCV001096647 RCV001760069

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

SNV
Germline

Chr1:103017825

Conflicting classifications of pathogenicity

Stickler syndrome type 2
Fibrochondrogenesis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA974993

rs_752749747

3 SubmittersRCV001098375 RCV001098376 RCV001760072

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

CA27743690

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

CA975054

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

CA975288

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
Stickler syndrome type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA975420

rs_751182532

3 SubmittersRCV001100245 RCV001100246 RCV001759867

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

CA975454

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

CA27756355

rs_530441485

3 SubmittersRCV001098583 RCV001098584 RCV003769054

NM_001852.4(COL9A2):c.1753G>T (p.Val585Leu)

SNV
Germline

Chr1:40302660

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA791346

rs_202153520

5 SubmittersRCV001097200 RCV001423359 RCV003938441 RCV005367721

NM_001854.4(COL11A1):c.5275-9A>C

SNV
Germline

Chr1:102878174

Conflicting classifications of pathogenicity

Stickler syndrome type 2
Fibrochondrogenesis 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA973261

rs_200949243

2 SubmittersRCV001101557 RCV001101558 RCV005093482

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
not specified

Criteria Provided
Conflicting Classifications

CA974048

rs_201970483

5 SubmittersRCV001101860 RCV001101861 RCV001518054 RCV006455416

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

CA884739287

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

CA974791

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

CA975365

rs_776608546

3 SubmittersRCV001100243 RCV001100242 RCV001404907 RCV004545060

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

SNV
Germline

Chr12:47973423

Conflicting classifications of pathogenicity

Stickler syndrome type 1
Condition: not provided
Type 2 collagenopathy

Criteria Provided
Conflicting Classifications

CA6534451

rs_376442872

3 SubmittersRCV001112534 RCV001772326 RCV006455425

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

SNV
Germline

Chr12:47973521

Conflicting classifications of pathogenicity

Stickler syndrome type 1
Condition: not provided
COL2A1-related disorder
Type 2 collagenopathy

Criteria Provided
Conflicting Classifications

CA6534475

rs_137948104

5 SubmittersRCV001112536 RCV001410869 RCV004538334 RCV006455433

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

SNV
Germline

Chr12:47974313

Conflicting classifications of pathogenicity

Stickler syndrome type 1
Condition: not provided
Type 2 collagenopathy

Criteria Provided
Conflicting Classifications

CA6534540

rs_202105427

2 SubmittersRCV001109854 RCV001245820 RCV006455420

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

SNV
Germline

Chr12:47975490

Conflicting classifications of pathogenicity

Stickler syndrome type 1
Condition: not provided
Connective tissue disorder
Type 2 collagenopathy
COL2A1-related disorder

Criteria Provided
Conflicting Classifications

CA6534662

rs_199726428

5 SubmittersRCV001113969 RCV001320848 RCV002276626 RCV006455442 RCV004734019

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

SNV
Germline

Chr12:47975540

Conflicting classifications of pathogenicity

Stickler syndrome type 1
Condition: not provided
Type 2 collagenopathy

Criteria Provided
Conflicting Classifications

CA6534671

rs_2276459

2 SubmittersRCV001113971 RCV001517493 RCV006455443

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

SNV
Germline

Chr12:47976055

Conflicting classifications of pathogenicity

Stickler syndrome type 1
Condition: not provided
Type 2 collagenopathy
not specified

Criteria Provided
Conflicting Classifications

CA6534717

rs_760390497

5 SubmittersRCV001109931 RCV001337220 RCV006455421 RCV006455422

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

SNV
Germline

Chr12:47977121

Conflicting classifications of pathogenicity

Stickler syndrome type 1
Intellectual disability
Condition: not provided
Inborn genetic diseases
Type 2 collagenopathy

Criteria Provided
Conflicting Classifications

CA384539526

rs_1180226091

4 SubmittersRCV001110723 RCV001251955 RCV002556166 RCV002555076 RCV006455427

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

SNV
Germline

Chr12:47978687

Conflicting classifications of pathogenicity

Stickler syndrome type 1
Condition: not provided
Type 2 collagenopathy

Criteria Provided
Conflicting Classifications

CA236521970

rs_948633441

2 SubmittersRCV001110026 RCV001413346 RCV006455423

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

SNV
Germline

Chr12:47987694

Conflicting classifications of pathogenicity

Stickler syndrome type 1
Condition: not provided
Type 2 collagenopathy

Criteria Provided
Conflicting Classifications

CA6535588

rs_748511528

2 SubmittersRCV001110954 RCV003727861 RCV006455430

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

SNV
Germline

Chr12:47994462

Conflicting classifications of pathogenicity

Stickler syndrome type 1
Condition: not provided
Type 2 collagenopathy

Criteria Provided
Conflicting Classifications

CA384522473

rs_1470645150

2 SubmittersRCV001114316 RCV003679035 RCV006455445

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

SNV
Germline

Chr12:47995306

Conflicting classifications of pathogenicity

Stickler syndrome type 1
Condition: not provided
Type 2 collagenopathy

Criteria Provided
Conflicting Classifications

CA6535819

rs_764487245

2 SubmittersRCV001114317 RCV002556237 RCV006455446

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

SNV
Germline

Chr12:47974663

Conflicting classifications of pathogenicity

Stickler syndrome type 1
Condition: not provided
Type 2 collagenopathy

Criteria Provided
Conflicting Classifications

CA6534567

rs_201312340

3 SubmittersRCV001110643 RCV001811662 RCV006455426

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

SNV
Germline

Chr12:47981409

Conflicting classifications of pathogenicity

Stickler syndrome type 1
Condition: not provided
Type 2 collagenopathy

Criteria Provided
Conflicting Classifications

CA6535102

rs_574507277

2 SubmittersRCV001112797 RCV002069818 RCV006455436

NM_001844.5(COL2A1):c.924+14A>C

SNV
Germline

Chr12:47993795

Conflicting classifications of pathogenicity

Stickler syndrome type 1
Type 2 collagenopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA604837764

rs_1475810942

2 SubmittersRCV001112958 RCV006455438 RCV006465392

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

SNV
Germline

Chr12:47995696

Conflicting classifications of pathogenicity

Stickler syndrome type 1
Condition: not provided
Type 2 collagenopathy

Criteria Provided
Conflicting Classifications

CA6535837

rs_769173275

2 SubmittersRCV001110295 RCV001415618 RCV006455424

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

SNV
Germline

Chr1:102961919

Conflicting classifications of pathogenicity

Marshall syndrome
Stickler syndrome type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA974137

rs_764282256

2 SubmittersRCV001257086 RCV005057075

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

CA3882834

rs_147237457

2 SubmittersRCV001196482 RCV001876273

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

SNV
Germline

Chr1:103078865

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA341168079

rs_1283924469

6 SubmittersRCV001249437 RCV001587283 RCV004528439 RCV005057153

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

SNV
Germline

Chr1:103022819

Likely pathogenic

Fibrochondrogenesis 1
Marshall syndrome
Stickler syndrome type 2

Criteria Provided
Single Submitter

CA341154439

rs_1667208458

1 SubmittersRCV001249607

NM_001854.4(COL11A1):c.4213G>A (p.Gly1405Ser)

SNV
Germline

Chr1:102898701

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA973632

rs_376137502

4 SubmittersRCV001266036 RCV003106170 RCV006261757

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

SNV
Germline

Chr12:47978630

Pathogenic/Likely pathogenic

Condition: not provided
Stickler syndrome type 1
Type 2 collagenopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA479696709

rs_367806541

11 SubmittersRCV001269946 RCV002294450 RCV005401818

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
COL2A1-related disorder
16 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA16609685

rs_1939189846

8 SubmittersRCV001270004 RCV001332046 RCV003989668 RCV005866914 RCV006257332

NM_001854.4(COL11A1):c.907G>A (p.Val303Ile)

SNV
Germline

Chr1:103025604

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
not specified
Marshall syndrome
Hearing loss, autosomal dominant 37
Fibrochondrogenesis
Stickler syndrome type 2

Criteria Provided
Conflicting Classifications

CA975196

rs_369925361

5 SubmittersRCV001321104 RCV003166859 RCV003490188 RCV005863415

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

SNV
Unknown

Chr1:103006316

Likely pathogenic

Stickler syndrome type 2

Criteria Provided
Single Submitter

CA341175248

rs_1665610030

1 SubmittersRCV001330656

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

SNV
Germline

Chr1:103022741

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA975086

rs_766849561

7 SubmittersRCV001780801 RCV002503269 RCV004738382 RCV005862521

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

CA384547687

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

Criteria Provided
Conflicting Classifications

CA27682412

rs_750291363

4 SubmittersRCV001341960 RCV001535998 RCV004968073

NM_001854.4(COL11A1):c.4388C>A (p.Pro1463His)

SNV
Germline

Chr1:102889531

Conflicting classifications of pathogenicity

Condition: not provided
Stickler syndrome type 2

Criteria Provided
Conflicting Classifications

CA973552

rs_202194245

2 SubmittersRCV001369696 RCV004789551

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

CA339878064

rs_781682527

3 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

CA6535512

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

CA8952685

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

CA6534978

rs_777615798

2 SubmittersRCV001377044 RCV002286578

NM_001844.5(COL2A1):c.1996-9G>A

SNV
Germline

Chr12:47983447

Pathogenic/Likely pathogenic

Condition: not provided
not specified
COL2A1-related disorder
Inborn genetic diseases
Type 2 collagenopathy
Stickler syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA2499221668

rs_2136555221

7 SubmittersRCV001378414 RCV002246357 RCV004545218 RCV005532994 RCV006249751 RCV005622112

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

SNV
Germline

Chr12:47976070

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA384537460

rs_2136514646

4 SubmittersRCV001382420 RCV002246366 RCV005866990

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

CA384547381

rs_2136552560

2 SubmittersRCV001385790 RCV003493854

NM_001853.4(COL9A3):c.387C>T (p.Ser129=)

SNV
Germline

Chr20:62821774

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9949228

rs_529110098

2 SubmittersRCV001419553 RCV005023161

NM_001852.4(COL9A2):c.217C>T (p.Pro73Ser)

SNV
Germline

Chr1:40314237

Conflicting classifications of pathogenicity

Condition: not provided
not specified
COL9A2-related disorder
Stickler syndrome, type 5

Criteria Provided
Conflicting Classifications

CA792071

rs_375150574

6 SubmittersRCV001528017 RCV003487428 RCV004741029 RCV004789658

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

SNV
Unknown

Chr1:102898728

Likely pathogenic

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

Criteria Provided
Single Submitter

CA341155366

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

CA341162272

rs_2101653580

2 SubmittersRCV001542538 RCV001581183

NM_001852.4(COL9A2):c.682C>T (p.Pro228Ser)

SNV
Germline

Chr1:40310716

Conflicting classifications of pathogenicity

Condition: not provided
not specified
COL9A2-related disorder
Stickler syndrome, type 5

Criteria Provided
Conflicting Classifications

CA791814

rs_370064150

6 SubmittersRCV001563473 RCV003487490 RCV004741036 RCV004785279

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

SNV
Germline

Chr12:47980968

Pathogenic/Likely pathogenic

Stickler syndrome type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA384545069

rs_2136539942

2 SubmittersRCV001564047 RCV005094791

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

SNV
Germline

Chr12:47985002

Likely pathogenic

Condition: not provided
Stickler syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA384550472

rs_140580674

2 SubmittersRCV001865988 RCV001564048

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

SNV
Germline

Chr1:102962222

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA27693634

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

CA384536187

rs_2136508909

4 SubmittersRCV001591924 RCV003234087 RCV004528523

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

SNV
Germline

Chr1:102984181

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA27704961

rs_372419698

4 SubmittersRCV001587154 RCV001825009 RCV004770182

NM_001852.4(COL9A2):c.1753G>A (p.Val585Met)

SNV
Germline

Chr1:40302660

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Stickler syndrome, type 5
COL9A2-related disorder

Criteria Provided
Conflicting Classifications

CA791347

rs_202153520

5 SubmittersRCV001590017 RCV003487493 RCV004785289 RCV003399398

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

SNV
Germline

Chr12:47984545

Pathogenic/Likely pathogenic

Stickler syndrome type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA384549269

rs_2136561510

2 SubmittersRCV001731124 RCV006467804

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

CA974348

rs_749003514

4 SubmittersRCV001733091 RCV002508964 RCV004040036

NM_001854.4(COL11A1):c.2241+5G>T

SNV
Germline

Chr1:102997075

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA2573051325

rs_2101800665

3 SubmittersRCV001752105 RCV005040348

NM_001854.4(COL11A1):c.565C>T (p.Pro189Ser)

SNV
Germline

Chr1:103074704

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA975409

rs_201557468

3 SubmittersRCV001773124 RCV002488601

NM_001844.5(COL2A1):c.2764C>T (p.Pro922Ser)

SNV
Germline

Chr12:47978728

Conflicting classifications of pathogenicity

Condition: not provided
Stickler syndrome type 1

Criteria Provided
Conflicting Classifications

CA6534983

rs_769590506

3 SubmittersRCV001774719 RCV004821316

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

SNV
Germline

Chr12:47974088

Pathogenic

Stickler syndrome type 1

Criteria Provided
Single Submitter

CA384533388

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

CA384535267

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

CA384539779

rs_2136520087

3 SubmittersRCV001814855 RCV001869629

NM_001853.4(COL9A3):c.1928C>T (p.Pro643Leu)

SNV
Germline

Chr20:62840605

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Epiphyseal dysplasia, multiple, 3
Intervertebral disc disorder
Stickler syndrome, type 6

Criteria Provided
Conflicting Classifications

CA409601449

rs_2147235760

3 SubmittersRCV001984386 RCV004976105 RCV005032077

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

SNV
Germline

Chr1:102995999

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA974505

rs_758825857

5 SubmittersRCV001878497 RCV002478131 RCV004584929 RCV005361770

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

SNV
Germline

Chr6:70302911

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA3882993

rs_770789859

2 SubmittersRCV001878070 RCV002482695

NM_001844.5(COL2A1):c.1042G>T (p.Gly348Cys)

SNV
Germline

Chr12:47989787

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA384555459

rs_2136590405

2 SubmittersRCV005253994 RCV001966943

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

SNV
Germline

Chr1:102886956

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA973428

rs_558265763

5 SubmittersRCV001940346 RCV002491900 RCV004538616 RCV006352630

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

CA2573130861

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
Spondyloepiphyseal dysplasia congenita
Stickler syndrome type 1

Criteria Provided
Conflicting Classifications

CA236527633

rs_865903887

3 SubmittersRCV001945651 RCV003444066 RCV003339826

NM_001854.4(COL11A1):c.3230C>T (p.Pro1077Leu)

SNV
Germline

Chr1:102946895

Conflicting classifications of pathogenicity

Condition: not provided
Stickler syndrome type 2

Criteria Provided
Conflicting Classifications

CA974091

rs_373734529

3 SubmittersRCV001921525 RCV003989734

NM_001844.5(COL2A1):c.3598-2A>G

SNV
Germline

Chr12:47975607

Pathogenic/Likely pathogenic

Condition: not provided
Stickler syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA384537245

rs_2136512643

2 SubmittersRCV001980282 RCV006442487

NM_001844.5(COL2A1):c.3886+1G>A

SNV
Germline

Chr12:47975316

Pathogenic

Condition: not provided
Stickler syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA384536261

rs_2136510769

2 SubmittersRCV002000153 RCV006437107

NM_001853.4(COL9A3):c.1851C>A (p.Asp617Glu)

SNV
Germline

Chr20:62838748

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9950222

rs_199577452

2 SubmittersRCV002006627 RCV004796703

NM_001854.4(COL11A1):c.5231A>G (p.Tyr1744Cys)

SNV
Germline

Chr1:102879726

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA973287

rs_769329430

2 SubmittersRCV002040508 RCV004796706

NM_001844.5(COL2A1):c.3597+1G>C

SNV
Germline

Chr12:47975962

Pathogenic

Condition: not provided
COL2A1-related disorder
Stickler syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA384537250

rs_1555164874

3 SubmittersRCV002002522 RCV004538681 RCV005250220

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

CA384544367

rs_886041429

2 SubmittersRCV002003098 RCV002246638

NM_001854.4(COL11A1):c.5094C>A (p.Phe1698Leu)

SNV
Germline

Chr1:102879863

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Stickler syndrome type 2

Criteria Provided
Conflicting Classifications

CA973305

rs_768649832

3 SubmittersRCV001952934 RCV005331067 RCV005361854

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

SNV
Germline

Chr12:47976568

Pathogenic

Condition: not provided
Stickler syndrome type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA384537582

rs_2136516942

2 SubmittersRCV002023134 RCV004565180

NM_001844.5(COL2A1):c.972T>C (p.Gly324=)

SNV
Germline

Chr12:47992929

Conflicting classifications of pathogenicity

Condition: not provided
Stickler syndrome type 1

Criteria Provided
Conflicting Classifications

CA479479239

rs_2136605039

2 SubmittersRCV002075837 RCV005232832

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

SNV
Germline

Chr12:47987277

Pathogenic

Stickler syndrome type 1

Criteria Provided
Single Submitter

CA384554157

rs_867799325

1 SubmittersRCV002471749

NM_001854.4(COL11A1):c.1351-1G>A

SNV
Germline

Chr1:103017883

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA341179738

rs_1666692498

3 SubmittersRCV002227825 RCV006255381

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

SNV
Germline

Chr20:62819941

Pathogenic

Stickler syndrome
Stickler syndrome, type 6
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA9949124

rs_763259234

4 SubmittersRCV002238720 RCV002279980 RCV003093927

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

SNV
Germline

Chr20:62837208

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA409599468

rs_1201247953

5 SubmittersRCV002279981 RCV002238721 RCV003093928 RCV002502051

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

SNV
Germline

Chr12:47980660

Likely pathogenic

Stickler syndrome type 1

Criteria Provided
Single Submitter

CA384544556

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

CA384551516

rs_2136567807

1 SubmittersRCV002249002

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

SNV
Germline

Chr12:47986379

Pathogenic/Likely pathogenic

Stickler syndrome type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA384552620

rs_2136571080

2 SubmittersRCV002249003 RCV005095815

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

SNV
Germline

Chr12:47974235

Pathogenic

Stickler syndrome type 1

Criteria Provided
Single Submitter

CA384533712

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

CA384552567

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

CA384523264

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

CA341159576

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

CA341170793

rs_2101406339

1 SubmittersRCV002272626

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

SNV
Germline

Chr20:62830402

Pathogenic

Stickler syndrome, type 6
Condition: not provided

Criteria Provided
Single Submitter

CA317334770

rs_989413835

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

CA384523999

rs_2540175543

1 SubmittersRCV002283666

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

SNV
Germline

Chr12:47978596

Pathogenic

Stickler syndrome type 1

Criteria Provided
Single Submitter

CA384541711

rs_2540113039

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

CA341175433

rs_2525433209

2 SubmittersRCV002288378 RCV004529122

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

SNV
Germline

Chr12:47983712

Pathogenic/Likely pathogenic

Stickler syndrome type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA384548497

rs_2540139953

2 SubmittersRCV002290174 RCV006470450

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

SNV
Germline

Chr12:47997869

Likely pathogenic

Stickler syndrome type 1

Criteria Provided
Single Submitter

CA384524928

rs_2540181315

1 SubmittersRCV002290202

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

SNV
Germline

Chr12:47997912

Pathogenic/Likely pathogenic

Stickler syndrome type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA384525025

rs_375448469

2 SubmittersRCV002290288 RCV005096069

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

SNV
Germline

Chr12:47998433

Likely pathogenic

Stickler syndrome type 1

No Assertion Criteria Provided

CA384525607

rs_2540183621

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

CA384552983

rs_2540149390

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

CA384553266

rs_2540150852

1 SubmittersRCV002471635

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

SNV
Germline

Chr12:47993503

Pathogenic

Stickler syndrome type 1

Criteria Provided
Single Submitter

CA384521846

rs_2540167332

1 SubmittersRCV002471691

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

SNV
Germline

Chr12:47980552

Likely pathogenic

Stickler syndrome type 1

Criteria Provided
Single Submitter

CA384544333

rs_2540121985

1 SubmittersRCV002471804

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

SNV
Germline

Chr12:47996592

Pathogenic

Stickler syndrome, type I, nonsyndromic ocular
Stickler syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA384524217

rs_2540177721

2 SubmittersRCV002471956 RCV006442803

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

SNV
Germline

Chr12:47986335

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA384552350

rs_2540148810

2 SubmittersRCV002472045 RCV005098458

NM_001844.5(COL2A1):c.785A>G (p.Lys262Arg)

SNV
Germline

Chr12:47994455

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Stickler syndrome, type I, nonsyndromic ocular

Criteria Provided
Conflicting Classifications

CA6535783

rs_769679774

3 SubmittersRCV002590171 RCV004065618 RCV005869871

NM_001854.4(COL11A1):c.1630-1G>T

SNV
Germline

Chr1:103008517

Pathogenic

Condition: not provided
Stickler syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA341175627

rs_2101869722

2 SubmittersRCV002614368 RCV006281040

NM_001854.4(COL11A1):c.2203C>G (p.Pro735Ala)

SNV
Germline

Chr1:102997118

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA974541

rs_752066122

2 SubmittersRCV002720665 RCV005034382

NM_001851.6(COL9A1):c.2617C>T (p.Arg873Ter)

SNV
Germline

Chr6:70217046

Conflicting classifications of pathogenicity

Condition: not provided
Retinal dystrophy
Stickler syndrome

Criteria Provided
Conflicting Classifications

CA364668082

rs_200829297

3 SubmittersRCV002754948 RCV004817105 RCV005356187

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

CA384523793

rs_2540174635

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

CA384546974

rs_1489630072

2 SubmittersRCV003050291 RCV003989800

NM_001854.4(COL11A1):c.4052G>T (p.Gly1351Val)

SNV
Germline

Chr1:102912193

Conflicting classifications of pathogenicity

Condition: not provided
Stickler syndrome type 2

Criteria Provided
Conflicting Classifications

CA341160212

rs_2524455621

2 SubmittersRCV003145096 RCV004786879

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

SNV
Germline

Chr1:102934537

Likely pathogenic

Stickler syndrome type 2

Criteria Provided
Single Submitter

CA341168114

rs_2524688567

1 SubmittersRCV003330334

NM_001854.4(COL11A1):c.268T>A (p.Phe90Ile)

SNV
Germline

Chr1:103082811

Conflicting classifications of pathogenicity

Condition: not provided
Marshall syndrome
Stickler syndrome type 2

Criteria Provided
Conflicting Classifications

CA975516

rs_373790561

3 SubmittersRCV003237211 RCV005429104

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

SNV
Germline

Chr12:47995765

Pathogenic

Stickler syndrome type 1

No Assertion Criteria Provided

CA384523810

rs_2136618395

1 SubmittersRCV003388641

NM_001844.5(COL2A1):c.309+1G>A

SNV
Germline

Chr12:47998414

Pathogenic/Likely pathogenic

Stickler syndrome type 1
COL2A1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA384525522

rs_2540183519

2 SubmittersRCV005254781 RCV004528020

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

SNV
Germline

Chr6:70256822

Likely pathogenic

Stickler syndrome, type 4

Criteria Provided
Single Submitter

CA364678549

rs_755976129

1 SubmittersRCV003447689

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

SNV
Germline

Chr1:102920309

Pathogenic/Likely pathogenic

Stickler syndrome type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA341163614

rs_2524540006

2 SubmittersRCV003482200

NM_001854.4(COL11A1):c.4186G>A (p.Gly1396Ser)

SNV
Germline

Chr1:102898728

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA973637

rs_763199410

3 SubmittersRCV003836530 RCV003994594 RCV004796851

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

SNV
Germline

Chr1:102978867

Likely pathogenic

Stickler syndrome type 2
Marshall syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA341163198

rs_2525109250

2 SubmittersRCV003988754 RCV004787086

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

SNV
Germline

Chr12:47986335

Likely pathogenic

Stickler syndrome type 1

Criteria Provided
Single Submitter

CA384552348

rs_2540148810

1 SubmittersRCV003994720

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

SNV
Germline

Chr1:103003262

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA341171784

rs_2525370664

3 SubmittersRCV004556009 RCV004736693 RCV005100829

NM_001854.4(COL11A1):c.4547G>A (p.Gly1516Asp)

SNV
Germline

Chr1:102888730

Likely pathogenic

Stickler syndrome type 2

No Assertion Criteria Provided

1 SubmittersRCV004768458

NM_001854.4(COL11A1):c.3762+1G>A

SNV
Germline

Chr1:102920310

Likely pathogenic

Stickler syndrome type 2

No Assertion Criteria Provided

1 SubmittersRCV004768459

NM_001854.4(COL11A1):c.4384G>T (p.Gly1462Cys)

SNV
Unknown

Chr1:102889535

Likely pathogenic

Stickler syndrome type 2

No Assertion Criteria Provided

1 SubmittersRCV004768460

NM_001854.4(COL11A1):c.4537G>T (p.Gly1513Cys)

SNV
Germline

Chr1:102888740

Pathogenic

Stickler syndrome type 2

No Assertion Criteria Provided

1 SubmittersRCV004768471

NM_001854.4(COL11A1):c.3277-1G>C

SNV
Unknown

Chr1:102940435

Likely pathogenic

Stickler syndrome type 2

No Assertion Criteria Provided

1 SubmittersRCV004768473

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

SNV
Germline

Chr12:47978596

Pathogenic

Stickler syndrome type 1

Criteria Provided
Single Submitter

1 SubmittersRCV004776390

NM_001854.4(COL11A1):c.2882G>A (p.Gly961Asp)

SNV
Germline

Chr1:102965521

Likely pathogenic

Stickler syndrome type 2

Criteria Provided
Single Submitter

1 SubmittersRCV004781977

NM_001854.4(COL11A1):c.2027G>A (p.Gly676Glu)

SNV
Germline

Chr1:103002763

Likely pathogenic

Stickler syndrome type 2

Criteria Provided
Single Submitter

1 SubmittersRCV004788203

NM_001854.4(COL11A1):c.2135G>C (p.Gly712Ala)

SNV
Germline

Chr1:103001932

Likely pathogenic

Stickler syndrome type 2

Criteria Provided
Single Submitter

1 SubmittersRCV004788214

NM_001854.4(COL11A1):c.1603G>C (p.Gly535Arg)

SNV
Germline

Chr1:103012439

Likely pathogenic

Stickler syndrome type 2

Criteria Provided
Single Submitter

1 SubmittersRCV004788519

NM_001854.4(COL11A1):c.3276+2T>G

SNV
Germline

Chr1:102946847

Likely pathogenic

Stickler syndrome type 2

Criteria Provided
Single Submitter

1 SubmittersRCV004790094

NM_001854.4(COL11A1):c.3071G>A (p.Gly1024Glu)

SNV
Germline

Chr1:102962219

Likely pathogenic

Stickler syndrome type 2

Criteria Provided
Single Submitter

1 SubmittersRCV004790102

NM_001844.5(COL2A1):c.1527+2T>A

SNV
Germline

Chr12:47986334

Likely pathogenic

Stickler syndrome type 1

Criteria Provided
Single Submitter

1 SubmittersRCV004795509

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

SNV
Germline

Chr1:103022741

Pathogenic/Likely pathogenic

Stickler syndrome
Fibrochondrogenesis 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004800223 RCV005623118

NM_001854.4(COL11A1):c.2549G>A (p.Gly850Asp)

SNV
Germline

Chr1:102984145

Likely pathogenic

Stickler syndrome type 2

No Assertion Criteria Provided

1 SubmittersRCV005227163

NM_001853.4(COL9A3):c.1486G>C (p.Gly496Arg)

SNV
Germline

Chr20:62836271

Likely pathogenic

Stickler syndrome, type 6

Criteria Provided
Single Submitter

1 SubmittersRCV005247940

NM_001854.4(COL11A1):c.3646G>T (p.Gly1216Cys)

SNV
Germline

Chr1:102923344

Likely pathogenic

Stickler syndrome type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005251562

NM_001844.5(COL2A1):c.4075-2A>C

SNV
Germline

Chr12:47974333

Likely pathogenic

Stickler syndrome type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005400681

NM_004525.3(LRP2):c.7965T>G (p.Cys2655Trp)

SNV
Germline

Chr2:169204022

Likely pathogenic

Stickler syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005623051

NM_001854.4(COL11A1):c.807T>A (p.Tyr269Ter)

SNV
Germline

Chr1:103026306

Pathogenic

Stickler syndrome type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005638821

NM_001844.5(COL2A1):c.1466G>A (p.Gly489Asp)

SNV
Germline

Chr12:47986397

Likely pathogenic

Stickler syndrome, type I, nonsyndromic ocular

Criteria Provided
Single Submitter

1 SubmittersRCV005646028

NM_001844.5(COL2A1):c.2518-1G>A

SNV
Germline

Chr12:47980662

Pathogenic

Stickler syndrome type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005860586

NM_001844.5(COL2A1):c.1165C>T (p.Gln389Ter)

SNV
Germline

Chr12:47987667

Pathogenic

Stickler syndrome type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005860995 RCV006489996

NM_001844.5(COL2A1):c.3041G>A (p.Gly1014Glu)

SNV
Germline

Chr12:47978080

Pathogenic

Stickler syndrome type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005859553

NM_001844.5(COL2A1):c.1438G>C (p.Gly480Arg)

SNV
Germline

Chr12:47986425

Likely pathogenic

Stickler syndrome type 1

Criteria Provided
Single Submitter

1 SubmittersRCV005859823

NM_000088.4(COL1A1):c.1786G>A (p.Gly596Arg)

SNV
Germline

Chr17:50193029

Likely pathogenic

Stickler syndrome type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005864402

NM_001854.4(COL11A1):c.3168+1G>C

SNV
Germline

Chr1:102961865

Likely pathogenic

Marshall syndrome
Stickler syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005938234

NM_001854.4(COL11A1):c.1939G>T (p.Glu647Ter)

SNV
Germline

Chr1:103004449

Likely pathogenic

Hearing loss, autosomal dominant 37
Marshall syndrome
Stickler syndrome type 2

Criteria Provided
Single Submitter

1 SubmittersRCV005938360

NM_001853.4(COL9A3):c.1A>G (p.Met1Val)

SNV
Germline

Chr20:62817065

Likely pathogenic

Stickler syndrome, type 6

Criteria Provided
Single Submitter

1 SubmittersRCV006249150

NM_001844.5(COL2A1):c.2716G>T (p.Gly906Ter)

SNV
Germline

Chr12:47979528

Pathogenic

Stickler syndrome, type I, nonsyndromic ocular

Criteria Provided
Single Submitter

1 SubmittersRCV006257628

NM_001854.4(COL11A1):c.1441G>A (p.Gly481Arg)

SNV
Germline

Chr1:103015715

Likely pathogenic

Stickler syndrome type 2

Criteria Provided
Single Submitter

1 SubmittersRCV006257853

NM_001844.5(COL2A1):c.691G>C (p.Gly231Arg)

SNV
Germline

Chr12:47995727

Pathogenic

Stickler syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006278367

NM_001844.5(COL2A1):c.2193+1G>C

SNV
Germline

Chr12:47982847

Likely pathogenic

Stickler syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006437325

NM_001854.4(COL11A1):c.4034G>T (p.Gly1345Val)

SNV
Germline

Chr1:102912211

Likely pathogenic

Stickler syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006439097

NM_001844.5(COL2A1):c.4010G>A (p.Trp1337Ter)

SNV
Germline

Chr12:47974739

Pathogenic

Stickler syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006439114

NM_001854.4(COL11A1):c.2808+6T>G

SNV
Germline

Chr1:102974824

Likely pathogenic

Stickler syndrome type 2
Marshall syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006553742

NM_001844.5(COL2A1):c.3109G>T (p.Glu1037Ter)

SNV
Germline

Chr12:47978012

Likely pathogenic

Stickler syndrome type 1

Criteria Provided
Single Submitter

1 SubmittersRCV006553798

NM_001854.4(COL11A1):c.3458G>C (p.Gly1153Ala)

SNV
Germline

Chr1:102935094

Likely pathogenic

Stickler syndrome type 2

Criteria Provided
Single Submitter

1 SubmittersRCV006554914

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

SNV
Unknown

Chr12:47977428

Pathogenic

Stickler syndrome type 1

Criteria Provided
Single Submitter

1 SubmittersRCV006597632