MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Osteogenesis Imperfecta (D010013)
..Starting node ..Osteogenesis imperfecta, type 7 (C536048)
Child Nodes:
Sister Nodes:
..Al Gazali Sabrinathan Nair syndrome (C535617)
..Astley-Kendall syndrome (C535392)
..Bruck syndrome 1 (C537406)
..Bruck syndrome 2 (C537407)
..Cole Carpenter syndrome (C535963)
..GNATHODIAPHYSEAL DYSPLASIA (OMIM:166260)
..Grant syndrome (C537293)
..Lowry Maclean syndrome (C537037)
..OI-EDS Combined Syndrome (C565178)
..Osteogenesis imperfecta congenita, microcephaly, and cataracts (C537558)
..Osteogenesis Imperfecta Type VII (C565200)
..Osteogenesis Imperfecta with Opalescent Teeth, Blue Sclerae and Wormian Bones, but Without Fractures (C563487)
..Osteogenesis imperfecta, Levin type (C536039)
..Osteogenesis imperfecta, type 1A (C536041)
..Osteogenesis imperfecta, type 2A (C536042)
..Osteogenesis imperfecta, type 2B (C536043)
..Osteogenesis imperfecta, type 3 (C536044)
..Osteogenesis imperfecta, type 4 (C536045)
..Osteogenesis imperfecta, type 5 (C536046)
..Osteogenesis imperfecta, type 6 (C536047)
..Osteogenesis imperfecta, type 7 (C536048)
..Osteogenesis Imperfecta, Type IX (C564921)
..Osteogenesis Imperfecta, Type V (C567042)
..Osteogenesis imperfecta, type VIII (C536049)
..OSTEOGENESIS IMPERFECTA, TYPE X (OMIM:613848)
..OSTEOGENESIS IMPERFECTA, TYPE XI (OMIM:610968)
..OSTEOGENESIS IMPERFECTA, TYPE XII (OMIM:613849)
..OSTEOGENESIS IMPERFECTA, TYPE XIII (OMIM:614856)
..OSTEOGENESIS IMPERFECTA, TYPE XIV (OMIM:615066)
..OSTEOGENESIS IMPERFECTA, TYPE XV (OMIM:615220)
..OSTEOGENESIS IMPERFECTA, TYPE XVII (OMIM:616507)
..Osteopenic Nonfracture Syndrome (C567172)
..Osteoporosis-pseudoglioma syndrome (C536063)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

9273

Name:

Osteogenesis imperfecta, type 7

Definition:

Alternative IDs:

OMIM:610682

ParentIDs:

MESH:D010013

TreeNumbers:

C05.116.099.708.685/C536048 |C16.320.737/C536048 |C17.300.200.540/C536048

Synonyms:

OI2B, FORMERLY |OI7 |OI, TYPE VII |OSTEOGENESIS IMPERFECTA, TYPE IIB, FORMERLY |OSTEOGENESIS IMPERFECTA, TYPE VII

Slim Mappings:

Connective tissue disease|Genetic disease (inborn)|Musculoskeletal disease

Reference:

MedGen: C536048
MeSH: C536048
OMIM: 610682;
MSeqDR :
Genes: CRTAP;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0004960	Absent pulmonary artery
3	HP:0000592	Blue sclerae
4	HP:0002979	Bowing of the legs
5	HP:0001623	Breech presentation
6	HP:0002812	Coxa vara
7	HP:0006367	Crumpled long bones
8	HP:0001522	Death in infancy
9	HP:0005474	Decreased calvarial ossification
10	HP:0000270	Delayed cranial suture closure
11	HP:0003783	Externally rotated/abducted legs
12	HP:0000126	Hydronephrosis
13	HP:0005304	Hypoplastic pulmonary veins
14	HP:0000343	Long philtrum
15	HP:0002983	Micromelia
16	HP:0005855	Multiple prenatal fractures
17	HP:0006640	Multiple rib fractures
18	HP:0000774	Narrow chest
19	HP:0000938	Osteopenia
20	HP:0000767	Pectus excavatum
21	HP:0000520	Proptosis
22	HP:0003179	Protrusio acetabuli
23	HP:0002757	Recurrent fractures
24	HP:0008905	Rhizomelia
25	HP:0000311	Round face
26	HP:0002650	Scoliosis
27	HP:0002953	Vertebral compression fractures
28	HP:0000260	Wide anterior fontanel
29	HP:0010537	Wide cranial sutures
30	HP:0002645	Wormian bones

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NC_000003.12:g.(?_33096991)_(33124599_?)del	10491	CRTAP	Pathogenic	-1	RCV000792790;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33138483	33166091		-
NM_006371.4(CRTAP):c.-119G>A	10491	CRTAP	Uncertain significance	900256700	RCV001150536;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155451	33155451	3:g.33155451G>A	-
NM_006371.4(CRTAP):c.-101G>C	10491	CRTAP	Conflicting interpretations of pathogenicity	189698814	RCV001150537\|RCV001568716;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682\|MedGen:C3661900	3	33155469	33155469	3:g.33155469G>C	-
NM_006371.4(CRTAP):c.-88C>T	10491	CRTAP	Uncertain significance	549258892	RCV000372869;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155482	33155482	NC_000003.11:g.33155482C>T	ClinGen:CA10616129	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.4(CRTAP):c.-83G>A	10491	CRTAP	Uncertain significance	890031275	RCV001150538;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155487	33155487	3:g.33155487G>A	-
NM_006371.5(CRTAP):c.-35C>T	10491	CRTAP	Conflicting interpretations of pathogenicity	567359532	RCV000285629\|RCV000418227;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682\|MedGen:CN169374	3	33155535	33155535	NC_000003.11:g.33155535C>T	ClinGen:CA2300162	CN169374 not specified;
NC_000003.12:g.(?_33114058)_(33124599_?)del	10491	CRTAP	Pathogenic	-1	RCV001032684;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155550	33166091	-1	-
NC_000003.11:g.(?_33155570)_(33166091_?)del	10491	CRTAP	Pathogenic	-1	RCV001959166;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155570	33166091	-1	-
NC_000003.11:g.(?_33155570)_(33156060_?)del	10491	CRTAP	Pathogenic	-1	RCV003109511;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155570	33156060		-
NM_006371.5(CRTAP):c.3G>A (p.Met1Ile)	10491	CRTAP	Pathogenic/Likely pathogenic	72659357	RCV000005239\|RCV002468961;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666	3	33155572	33155572	3:g.33155572G>A	ClinGen:CA117153,OMIM:605497.0005	C1853162 610682 Osteogenesis imperfecta type 7;
NM_006371.5(CRTAP):c.4G>C (p.Glu2Gln)	10491	CRTAP	Uncertain significance	-1	RCV002296308;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155573	33155573	33155573	-
NM_006371.5(CRTAP):c.6G>A (p.Glu2=)	10491	CRTAP	Likely benign	13090149	RCV000641677;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155575	33155575	3:g.33155575G>A	ClinGen:CA433062837	C1853162 610682 Osteogenesis imperfecta type 7;
NM_006371.5(CRTAP):c.8del (p.Pro3fs)	10491	CRTAP	Pathogenic	1701306294	RCV001060273;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155576	33155576	3:g.33155576_33155576del	-
NM_006371.5(CRTAP):c.8C>A (p.Pro3Gln)	10491	CRTAP	Uncertain significance	-1	RCV003013387;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155577	33155577	NC_000003.11:g.33155577C>A	-
NM_006371.5(CRTAP):c.13C>A (p.Arg5Ser)	10491	CRTAP	Uncertain significance	758652009	RCV001150539\|RCV002557243;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682\|MeSH:D030342,MedGen:C0950123	3	33155582	33155582	3:g.33155582C>A	-
NM_006371.5(CRTAP):c.22dup (p.Ala8fs)	10491	CRTAP	Pathogenic	137853936	RCV001780878;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155585	33155586	33155585	-
NM_006371.5(CRTAP):c.18_33del (p.Arg6_Gly7insTer)	10491	CRTAP	Pathogenic	752412772	RCV001382201;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155586	33155601	33155585	-
NM_006371.5(CRTAP):c.17G>T (p.Arg6Leu)	10491	CRTAP	Uncertain significance	780490905	RCV002044340;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155586	33155586	33155586	-
NM_006371.5(CRTAP):c.22del (p.Ala8fs)	10491	CRTAP	Pathogenic	-1	RCV003078514;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155586	33155586	NC_000003.11:g.33155591del	-
NM_006371.5(CRTAP):c.18G>C (p.Arg6=)	10491	CRTAP	Likely benign	1333081449	RCV002098778;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155587	33155587	33155587	-
NM_006371.5(CRTAP):c.18G>T (p.Arg6=)	10491	CRTAP	Likely benign	1333081449	RCV002084498;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155587	33155587	33155587	-
NM_006371.5(CRTAP):c.20G>C (p.Gly7Ala)	10491	CRTAP	Uncertain significance	886044235	RCV000263295\|RCV002518097;	N	MedGen:CN517202\|MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155589	33155589	3:g.33155589G>C	ClinGen:CA10606514	CN169374 not specified;
NM_006371.5(CRTAP):c.21G>A (p.Gly7=)	10491	CRTAP	Likely benign	-1	RCV003060762;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155590	33155590		-
NM_006371.5(CRTAP):c.24_31del (p.Ala10fs)	10491	CRTAP	Pathogenic	74315154	RCV001382668\|RCV001597269;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682\|MedGen:C3661900	3	33155591	33155598	33155590	-
NM_006371.5(CRTAP):c.23C>T (p.Ala8Val)	10491	CRTAP	Uncertain significance	770294468	RCV001909514\|RCV002276927;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666	3	33155592	33155592	33155592	-
NM_006371.5(CRTAP):c.24C>G (p.Ala8=)	10491	CRTAP	Likely benign	-1	RCV002604720;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155593	33155593		-
NM_006371.5(CRTAP):c.27G>A (p.Ala9=)	10491	CRTAP	Likely benign	748214555	RCV001439033;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155596	33155596	33155596	-
NM_006371.5(CRTAP):c.36_44dup (p.10ALL[3])	10491	CRTAP	Uncertain significance	777594626	RCV001876386;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155596	33155597	33155596	-
NM_006371.5(CRTAP):c.29C>T (p.Ala10Val)	10491	CRTAP	Uncertain significance	769955892	RCV002009851;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155598	33155598	33155598	-
NM_006371.5(CRTAP):c.35T>C (p.Leu12Pro)	10491	CRTAP	Uncertain significance	-1	RCV002735042;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155604	33155604	NC_000003.11:g.33155604T>C	-
NM_006371.5(CRTAP):c.44_64dup (p.Leu15_Leu21dup)	10491	CRTAP	Uncertain significance	1701307846	RCV001896661;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155605	33155606	33155605	-
NM_006371.5(CRTAP):c.38C>A (p.Ala13Glu)	10491	CRTAP	Uncertain significance	137853938	RCV001206163;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155607	33155607	3:g.33155607C>A	-
NM_006371.5(CRTAP):c.39G>T (p.Ala13=)	10491	CRTAP	Likely benign	774113733	RCV002091685;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155608	33155608	33155608	-
NM_006371.5(CRTAP):c.39G>A (p.Ala13=)	10491	CRTAP	Likely benign	774113733	RCV002092025;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155608	33155608	33155608	-
NM_006371.5(CRTAP):c.40C>G (p.Leu14Val)	10491	CRTAP	Uncertain significance	909805285	RCV001894464;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155609	33155609	33155609	-
NM_006371.5(CRTAP):c.42G>A (p.Leu14=)	10491	CRTAP	Likely benign	-1	RCV002970660;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155611	33155611		-
NM_006371.5(CRTAP):c.49G>A (p.Val17Met)	10491	CRTAP	Conflicting interpretations of pathogenicity	200576259	RCV000755994\|RCV001519909;	N	MedGen:CN517202\|MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155618	33155618	NC_000003.11:g.33155618G>A	-
NM_006371.5(CRTAP):c.50T>A (p.Val17Glu)	10491	CRTAP	Uncertain significance	1701308393	RCV002003190;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155619	33155619	33155619	-
NM_006371.5(CRTAP):c.62_77del (p.Leu21fs)	10491	CRTAP	Pathogenic	1701308701	RCV002073404;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155625	33155640	33155624	-
NM_006371.5(CRTAP):c.57C>T (p.Cys19=)	10491	CRTAP	Uncertain significance	-1	RCV002914613;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155626	33155626		-
NM_006371.5(CRTAP):c.58G>A (p.Ala20Thr)	10491	CRTAP	Uncertain significance	-1	RCV002982487;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155627	33155627	NC_000003.11:g.33155627G>A	-
NM_006371.5(CRTAP):c.62T>G (p.Leu21Arg)	10491	CRTAP	Uncertain significance	775265156	RCV001297851;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155631	33155631	33155631	-
NM_006371.5(CRTAP):c.68C>T (p.Ala23Val)	10491	CRTAP	Uncertain significance	1401887028	RCV001150540\|RCV002276644;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666	3	33155637	33155637	3:g.33155637C>T	-
NM_006371.5(CRTAP):c.70G>A (p.Gly24Arg)	10491	CRTAP	Uncertain significance	763727738	RCV000792562;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155639	33155639	3:g.33155639G>A	-
NM_006371.5(CRTAP):c.72G>A (p.Gly24=)	10491	CRTAP	Likely benign	776316982	RCV002196067;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155641	33155641	33155641	-
NM_006371.5(CRTAP):c.73C>A (p.Arg25Ser)	10491	CRTAP	Uncertain significance	-1	RCV003006312;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155642	33155642	NC_000003.11:g.33155642C>A	-
NM_006371.5(CRTAP):c.75C>T (p.Arg25=)	10491	CRTAP	Likely benign	-1	RCV002624607;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155644	33155644		-
NM_006371.5(CRTAP):c.83A>G (p.Tyr28Cys)	10491	CRTAP	Uncertain significance	-1	RCV002716885;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155652	33155652	NC_000003.11:g.33155652A>G	-
NM_006371.5(CRTAP):c.85G>C (p.Glu29Gln)	10491	CRTAP	Uncertain significance	766784647	RCV000792309;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155654	33155654	3:g.33155654G>C	-
NM_006371.5(CRTAP):c.88C>T (p.Arg30Cys)	10491	CRTAP	Uncertain significance	553076085	RCV000641673;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155657	33155657	3:g.33155657C>T	ClinGen:CA2300189	C1853162 610682 Osteogenesis imperfecta type 7;
NM_006371.5(CRTAP):c.88C>A (p.Arg30Ser)	10491	CRTAP	Uncertain significance	553076085	RCV000705509\|RCV000762370;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682\|MedGen:C3661900	3	33155657	33155657	NC_000003.11:g.33155657C>A	-	C1853162 610682 Osteogenesis imperfecta type 7;
NM_006371.5(CRTAP):c.90C>G (p.Arg30=)	10491	CRTAP	Uncertain significance	1256135890	RCV001042673;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155659	33155659	3:g.33155659C>G	-
NM_006371.5(CRTAP):c.92A>G (p.Tyr31Cys)	10491	CRTAP	Uncertain significance	372115693	RCV000641676;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155661	33155661	3:g.33155661A>G	ClinGen:CA2300192	C1853162 610682 Osteogenesis imperfecta type 7;
NM_006371.5(CRTAP):c.101_109dup (p.Arg34_Phe36dup)	10491	CRTAP	Uncertain significance	778741063	RCV000797974;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155661	33155662	3:g.33155661_33155662insCAGCTTCCG	-
NM_006371.5(CRTAP):c.94A>G (p.Ser32Gly)	10491	CRTAP	Uncertain significance	748431852	RCV001962463;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155663	33155663	33155663	-
NM_006371.5(CRTAP):c.99C>G (p.Phe33Leu)	10491	CRTAP	Uncertain significance	-1	RCV002649569;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155668	33155668	NC_000003.11:g.33155668C>G	-
NM_006371.5(CRTAP):c.101G>T (p.Arg34Leu)	10491	CRTAP	Uncertain significance	1468902182	RCV001223467;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155670	33155670	3:g.33155670G>T	-
NM_006371.5(CRTAP):c.104G>C (p.Ser35Thr)	10491	CRTAP	Uncertain significance	573867257	RCV000342954;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155673	33155673	NC_000003.11:g.33155673G>C	ClinGen:CA2300196	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.105C>T (p.Ser35=)	10491	CRTAP	Likely benign	960183840	RCV001394313;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155674	33155674	33155674	-
NM_006371.5(CRTAP):c.111A>G (p.Pro37=)	10491	CRTAP	Conflicting interpretations of pathogenicity	772038741	RCV001144447\|RCV001586004;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682\|MedGen:CN517202	3	33155680	33155680	3:g.33155680A>G	-
NM_006371.5(CRTAP):c.113G>C (p.Arg38Pro)	10491	CRTAP	Uncertain significance	1311153988	RCV001883659;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155682	33155682	33155682	-
NM_006371.5(CRTAP):c.114G>T (p.Arg38=)	10491	CRTAP	Likely benign	746788797	RCV002047403;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155683	33155683	33155683	-
NM_006371.5(CRTAP):c.115G>T (p.Asp39Tyr)	10491	CRTAP	Uncertain significance	768482278	RCV001312793;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155684	33155684	33155684	-
NM_006371.5(CRTAP):c.118_133delinsTACCC (p.Glu40fs)	10491	CRTAP	Pathogenic	387907333	RCV000034835;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155687	33155702	3:g.33155688_33155702del	ClinGen:CA130911,OMIM:605497.0007	C1853162 610682 Osteogenesis imperfecta type 7;
NM_006371.5(CRTAP):c.118G>T (p.Glu40Ter)	10491	CRTAP	Pathogenic	863225043	RCV000201190;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155687	33155687	NC_000003.11:g.33155687G>T	ClinGen:CA279115,OMIM:605497.0009	C1853162 610682 Osteogenesis imperfecta type 7;
NM_006371.5(CRTAP):c.121C>T (p.Leu41=)	10491	CRTAP	Likely benign	904106169	RCV000945641;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155690	33155690	3:g.33155690C>T	-
NM_006371.5(CRTAP):c.125T>C (p.Met42Thr)	10491	CRTAP	Uncertain significance	761551356	RCV001309988;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155694	33155694	33155694	-
NM_006371.5(CRTAP):c.131T>C (p.Leu44Pro)	10491	CRTAP	Uncertain significance	772784211	RCV000641672;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155700	33155700	3:g.33155700T>C	ClinGen:CA2300204	C1853162 610682 Osteogenesis imperfecta type 7;
NM_006371.5(CRTAP):c.132C>T (p.Leu44=)	10491	CRTAP	Likely benign	114946269	RCV000552650;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155701	33155701	NC_000003.11:g.33155701C>T	ClinGen:CA2300205	C1853162 610682 Osteogenesis imperfecta type 7;
NM_006371.5(CRTAP):c.143A>G (p.Tyr48Cys)	10491	CRTAP	Uncertain significance	768012717	RCV000530920;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155712	33155712	NC_000003.11:g.33155712A>G	ClinGen:CA10618451	C1853162 610682 Osteogenesis imperfecta type 7;
NM_006371.5(CRTAP):c.143A>T (p.Tyr48Phe)	10491	CRTAP	Uncertain significance	-1	RCV003143360;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155712	33155712	NC_000003.11:g.33155712A>T	-
NM_006371.5(CRTAP):c.146G>C (p.Arg49Pro)	10491	CRTAP	Uncertain significance	1376339738	RCV000803027;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155715	33155715	3:g.33155715G>C	-
NM_006371.5(CRTAP):c.153_175dup (p.His59fs)	10491	CRTAP	Pathogenic	-1	RCV002471682;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155719	33155720	NC_000003.11:g.33155722_33155744dup	-
NM_006371.5(CRTAP):c.150C>T (p.His50=)	10491	CRTAP	Likely benign	-1	RCV002629107;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155719	33155719		-
NM_006371.5(CRTAP):c.155T>C (p.Leu52Pro)	10491	CRTAP	Uncertain significance	1435396409	RCV001948929;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155724	33155724	33155724	-
NM_006371.5(CRTAP):c.157G>C (p.Asp53His)	10491	CRTAP	Uncertain significance	752802071	RCV001925338\|RCV003264227;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682\|MeSH:D030342,MedGen:C0950123	3	33155726	33155726	33155726	-
NM_006371.5(CRTAP):c.162G>A (p.Lys54=)	10491	CRTAP	Likely benign	-1	RCV002628098;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155731	33155731		-
NM_006371.5(CRTAP):c.163T>C (p.Tyr55His)	10491	CRTAP	Uncertain significance	-1	RCV002957198;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155732	33155732	NC_000003.11:g.33155732T>C	-
NM_006371.5(CRTAP):c.167G>A (p.Ser56Asn)	10491	CRTAP	Benign	571617130	RCV001510965;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155736	33155736	33155736	-
NM_006371.5(CRTAP):c.168C>G (p.Ser56Arg)	10491	CRTAP	Uncertain significance	146112611	RCV001057718\|RCV002276606;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666	3	33155737	33155737	3:g.33155737C>G	-
NM_006371.5(CRTAP):c.169G>A (p.Gly57Ser)	10491	CRTAP	Uncertain significance	-1	RCV002633884;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155738	33155738	NC_000003.11:g.33155738G>A	-
NM_006371.5(CRTAP):c.170G>A (p.Gly57Asp)	10491	CRTAP	Uncertain significance	747689884	RCV001049166;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155739	33155739	3:g.33155739G>A	-
NM_006371.5(CRTAP):c.172G>T (p.Glu58Ter)	10491	CRTAP	Pathogenic	769484595	RCV002007475;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155741	33155741	33155741	-
NM_006371.5(CRTAP):c.173A>G (p.Glu58Gly)	10491	CRTAP	Uncertain significance	1701312995	RCV001337780;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155742	33155742	33155742	-
NM_006371.5(CRTAP):c.189C>T (p.Ser63=)	10491	CRTAP	Likely benign	1178355967	RCV001403809;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155758	33155758	3:g.33155758C>T	-
NM_006371.5(CRTAP):c.196T>G (p.Tyr66Asp)	10491	CRTAP	Uncertain significance	-1	RCV002303458;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155765	33155765	33155765	-
NM_006371.5(CRTAP):c.198C>A (p.Tyr66Ter)	10491	CRTAP	Pathogenic	137853939	RCV000815568\|RCV003155319;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666	3	33155767	33155767	3:g.33155767C>A	-
NM_006371.5(CRTAP):c.210C>T (p.Ser70=)	10491	CRTAP	Likely benign	2125595939	RCV001400915;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155779	33155779	33155779	-
NM_006371.5(CRTAP):c.213G>A (p.Leu71=)	10491	CRTAP	Benign	11558338	RCV000173404\|RCV000600764;	N	MedGen:CN169374\|MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155782	33155782	3:g.33155782G>A	ClinGen:CA200504	CN169374 not specified;
NM_006371.5(CRTAP):c.217C>T (p.Leu73=)	10491	CRTAP	Likely benign	-1	RCV002876091;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155786	33155786		-
NM_006371.5(CRTAP):c.224G>A (p.Arg75His)	10491	CRTAP	Uncertain significance	1488937584	RCV001935581;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155793	33155793	33155793	-
NM_006371.5(CRTAP):c.226T>C (p.Leu76=)	10491	CRTAP	Likely benign	368879937	RCV000878615;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155795	33155795	3:g.33155795T>C	-
NM_006371.5(CRTAP):c.231G>A (p.Leu77=)	10491	CRTAP	Likely benign	576184132	RCV002546001;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155800	33155800	3:g.33155800G>A	-
NM_006371.5(CRTAP):c.233G>A (p.Arg78His)	10491	CRTAP	Uncertain significance	372600896	RCV002555607\|RCV001922831;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155802	33155802	33155802	-
NM_006371.5(CRTAP):c.235G>T (p.Asp79Tyr)	10491	CRTAP	Uncertain significance	375833342	RCV001342114;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155804	33155804	33155804	-
NM_006371.5(CRTAP):c.235G>C (p.Asp79His)	10491	CRTAP	Uncertain significance	375833342	RCV002051159;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155804	33155804	33155804	-
NM_006371.5(CRTAP):c.237C>T (p.Asp79=)	10491	CRTAP	Likely benign	-1	RCV002632962;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155806	33155806		-
NM_006371.5(CRTAP):c.239G>A (p.Ser80Asn)	10491	CRTAP	Uncertain significance	754916341	RCV000693781\|RCV003258929;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682\|MeSH:D030342,MedGen:C0950123	3	33155808	33155808	3:g.33155808G>A	-	C1853162 610682 Osteogenesis imperfecta type 7;
NM_006371.5(CRTAP):c.249C>T (p.Phe83=)	10491	CRTAP	Likely benign	781058476	RCV001452461;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155818	33155818	33155818	-
NM_006371.5(CRTAP):c.257G>C (p.Arg86Pro)	10491	CRTAP	Uncertain significance	2125595979	RCV001987527\|RCV002276949;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666	3	33155826	33155826	33155826	-
NM_006371.5(CRTAP):c.260A>G (p.Asn87Ser)	10491	CRTAP	Uncertain significance	-1	RCV002922051;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155829	33155829	NC_000003.11:g.33155829A>G	-
NM_006371.5(CRTAP):c.261C>A (p.Asn87Lys)	10491	CRTAP	Uncertain significance	-1	RCV003083921;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155830	33155830	NC_000003.11:g.33155830C>A	-
NM_006371.5(CRTAP):c.267C>G (p.Ser89Arg)	10491	CRTAP	Uncertain significance	2125595986	RCV001997555;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155836	33155836	33155836	-
NM_006371.5(CRTAP):c.270C>T (p.Ala90=)	10491	CRTAP	Likely benign	769515796	RCV002119598;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155839	33155839	33155839	-
NM_006371.5(CRTAP):c.278_293dup (p.Gly99fs)	10491	CRTAP	Pathogenic	-1	RCV000005240;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155840	33155841	33155840	OMIM:605497.0006
NM_006371.5(CRTAP):c.271G>C (p.Ala91Pro)	10491	CRTAP	Uncertain significance	886058345	RCV000347698;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155840	33155840	NC_000003.11:g.33155840G>C	ClinGen:CA10615639	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.280C>T (p.Pro94Ser)	10491	CRTAP	Uncertain significance	-1	RCV003090553;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155849	33155849	NC_000003.11:g.33155849C>T	-
NM_006371.5(CRTAP):c.282C>T (p.Pro94=)	10491	CRTAP	Conflicting interpretations of pathogenicity	540998437	RCV000391551\|RCV002278542;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666	3	33155851	33155851	NC_000003.11:g.33155851C>T	ClinGen:CA2300239	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.289G>C (p.Ala97Pro)	10491	CRTAP	Uncertain significance	200243989	RCV000506374\|RCV000813639;	N	MedGen:CN169374\|MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155858	33155858	NC_000003.11:g.33155858G>C	ClinGen:CA2300240	CN169374 not specified;
NM_006371.5(CRTAP):c.303C>T (p.Ala101=)	10491	CRTAP	Likely benign	2125596011	RCV002169094;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155872	33155872	33155872	-
NM_006371.5(CRTAP):c.308A>G (p.Tyr103Cys)	10491	CRTAP	Uncertain significance	769117004	RCV001899939\|RCV002276916\|RCV002548732;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MeSH:D030342,MedGen:C0950123	3	33155877	33155877	33155877	-
NM_006371.5(CRTAP):c.312C>G (p.Pro104=)	10491	CRTAP	Likely benign	904096765	RCV000952417;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155881	33155881	3:g.33155881C>G	-
NM_006371.5(CRTAP):c.312C>A (p.Pro104=)	10491	CRTAP	Likely benign	904096765	RCV001481938;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155881	33155881	3:g.33155881C>A	-
NM_006371.5(CRTAP):c.320_321del (p.Arg107fs)	10491	CRTAP	Pathogenic	768626850	RCV000818003;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155887	33155888	3:g.33155887_33155888del	-
NM_006371.5(CRTAP):c.325T>C (p.Phe109Leu)	10491	CRTAP	Uncertain significance	775914088	RCV002036478\|RCV003375564;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682\|MeSH:D030342,MedGen:C0950123	3	33155894	33155894	33155894	-
NM_006371.5(CRTAP):c.329G>T (p.Gly110Val)	10491	CRTAP	Uncertain significance	761073068	RCV001910699;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155898	33155898	33155898	-
NM_006371.5(CRTAP):c.331G>T (p.Gly111Cys)	10491	CRTAP	Uncertain significance	-1	RCV003070168\|RCV003228118;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682\|MedGen:CN517202	3	33155900	33155900	NC_000003.11:g.33155900G>T	-
NM_006371.5(CRTAP):c.339G>C (p.Leu113=)	10491	CRTAP	Likely benign	960380634	RCV000641680;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155908	33155908	3:g.33155908G>C	ClinGen:CA72699598	C1853162 610682 Osteogenesis imperfecta type 7;
NM_006371.5(CRTAP):c.340C>T (p.Arg114Cys)	10491	CRTAP	Uncertain significance	-1	RCV002619013;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155909	33155909	NC_000003.11:g.33155909C>T	-
NM_006371.5(CRTAP):c.343C>G (p.Arg115Gly)	10491	CRTAP	Uncertain significance	-1	RCV003085866;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155912	33155912	NC_000003.11:g.33155912C>G	-
NM_006371.5(CRTAP):c.344G>A (p.Arg115His)	10491	CRTAP	Uncertain significance	867761925	RCV001055105;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155913	33155913	3:g.33155913G>A	-
NM_006371.5(CRTAP):c.348G>C (p.Ala116=)	10491	CRTAP	Likely benign	1176028547	RCV002120675;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155917	33155917	33155917	-
NM_006371.5(CRTAP):c.352_353delinsCT (p.Cys118Leu)	10491	CRTAP	Uncertain significance	1701317564	RCV001301678;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155921	33155922	33155921	-
NM_006371.5(CRTAP):c.353G>A (p.Cys118Tyr)	10491	CRTAP	Uncertain significance	765234021	RCV001001260;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155922	33155922	3:g.33155922G>A	-
NM_006371.5(CRTAP):c.357C>T (p.Leu119=)	10491	CRTAP	Likely benign	2125596063	RCV001493324;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155926	33155926	33155926	-
NM_006371.5(CRTAP):c.368A>G (p.Lys123Arg)	10491	CRTAP	Uncertain significance	767456804	RCV000689439;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155937	33155937	3:g.33155937A>G	-	C1853162 610682 Osteogenesis imperfecta type 7;
NM_006371.5(CRTAP):c.371A>G (p.Gln124Arg)	10491	CRTAP	Uncertain significance	752605909	RCV001237530;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155940	33155940	3:g.33155940A>G	-
NM_006371.5(CRTAP):c.372G>A (p.Gln124=)	10491	CRTAP	Likely benign	755889115	RCV002172863;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155941	33155941	33155941	-
NM_006371.5(CRTAP):c.373G>C (p.Gly125Arg)	10491	CRTAP	Uncertain significance	777442040	RCV001295220;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155942	33155942	33155942	-
NM_006371.5(CRTAP):c.375C>G (p.Gly125=)	10491	CRTAP	Likely benign	-1	RCV002740008;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155944	33155944		-
NM_006371.5(CRTAP):c.376C>T (p.Leu126=)	10491	CRTAP	Conflicting interpretations of pathogenicity	756961672	RCV001144448;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155945	33155945	3:g.33155945C>T	-
NM_006371.5(CRTAP):c.380C>A (p.Pro127Gln)	10491	CRTAP	Uncertain significance	921862940	RCV000793129;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155949	33155949	3:g.33155949C>A	-
NM_006371.5(CRTAP):c.387C>G (p.Phe129Leu)	10491	CRTAP	Uncertain significance	778764392	RCV001218394;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155956	33155956	3:g.33155956C>G	-
NM_006371.5(CRTAP):c.388C>T (p.Arg130Cys)	10491	CRTAP	Uncertain significance	969878155	RCV000796853;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155957	33155957	3:g.33155957C>T	-
NM_006371.5(CRTAP):c.396C>G (p.Ser132=)	10491	CRTAP	Likely benign	1453368481	RCV000545671;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155965	33155965	3:g.33155965C>G	ClinGen:CA433063883	C1853162 610682 Osteogenesis imperfecta type 7;
NM_006371.5(CRTAP):c.400C>A (p.Pro134Thr)	10491	CRTAP	Uncertain significance	-1	RCV002937556;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155969	33155969	NC_000003.11:g.33155969C>A	-
NM_006371.5(CRTAP):c.402C>T (p.Pro134=)	10491	CRTAP	Likely benign	771525192	RCV001994542;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155971	33155971	33155971	-
NM_006371.5(CRTAP):c.404del (p.Ser135fs)	10491	CRTAP	Pathogenic	137853941	RCV002250857;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155973	33155973	33155972	-
NM_006371.5(CRTAP):c.412G>A (p.Val138Met)	10491	CRTAP	Uncertain significance	-1	RCV002835179;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155981	33155981	NC_000003.11:g.33155981G>A	-
NM_006371.5(CRTAP):c.417G>A (p.Leu139=)	10491	CRTAP	Likely benign	-1	RCV002899308;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155986	33155986		-
NM_006371.5(CRTAP):c.420G>T (p.Ala140=)	10491	CRTAP	Likely benign	773473218	RCV000560907;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155989	33155989	NC_000003.11:g.33155989G>T	ClinGen:CA433063968	C1853162 610682 Osteogenesis imperfecta type 7;
NM_006371.5(CRTAP):c.420G>A (p.Ala140=)	10491	CRTAP	Likely benign	773473218	RCV002119930;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155989	33155989	33155989	-
NM_006371.5(CRTAP):c.429G>T (p.Gln143His)	10491	CRTAP	Uncertain significance	766390490	RCV001058887;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155998	33155998	3:g.33155998G>T	-
NM_006371.5(CRTAP):c.430C>T (p.Arg144Cys)	10491	CRTAP	Uncertain significance	-1	RCV002633395;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155999	33155999	NC_000003.11:g.33155999C>T	-
NM_006371.5(CRTAP):c.435C>T (p.Arg145=)	10491	CRTAP	Likely benign	753670727	RCV001955641;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33156004	33156004	33156004	-
NM_006371.5(CRTAP):c.436G>A (p.Glu146Lys)	10491	CRTAP	Uncertain significance	-1	RCV003051571;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33156005	33156005	NC_000003.11:g.33156005G>A	-
NM_006371.5(CRTAP):c.438G>T (p.Glu146Asp)	10491	CRTAP	Uncertain significance	-1	RCV002592182;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33156007	33156007	NC_000003.11:g.33156007G>T	-
NM_006371.5(CRTAP):c.441C>G (p.Pro147=)	10491	CRTAP	Likely benign	962653319	RCV000641679;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33156010	33156010	NC_000003.11:g.33156010C>G	ClinGen:CA72699785	C1853162 610682 Osteogenesis imperfecta type 7;
NM_006371.5(CRTAP):c.443A>C (p.Tyr148Ser)	10491	CRTAP	Uncertain significance	1185323876	RCV002251301;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33156012	33156012	33156012	-
NM_006371.5(CRTAP):c.444C>G (p.Tyr148Ter)	10491	CRTAP	Pathogenic/Likely pathogenic	972668240	RCV000534680;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33156013	33156013	3:g.33156013C>G	ClinGen:CA72699803	C1853162 610682 Osteogenesis imperfecta type 7;
NM_006371.5(CRTAP):c.445A>T (p.Lys149Ter)	10491	CRTAP	Pathogenic	-1	RCV002626063;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33156014	33156014	NC_000003.11:g.33156014A>T	-
NM_006371.5(CRTAP):c.446A>G (p.Lys149Arg)	10491	CRTAP	Uncertain significance	201564256	RCV000559577\|RCV001355127;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682\|MedGen:C3661900	3	33156015	33156015	NC_000003.11:g.33156015A>G	ClinGen:CA2300276	C1853162 610682 Osteogenesis imperfecta type 7;
NM_006371.5(CRTAP):c.450C>T (p.Phe150=)	10491	CRTAP	Likely benign	1701320948	RCV001432284;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33156019	33156019	33156019	-
NM_006371.5(CRTAP):c.451C>G (p.Leu151Val)	10491	CRTAP	Uncertain significance	202118861	RCV000494644\|RCV000533870\|RCV002279269;	N	MedGen:C3661900\|MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666	3	33156020	33156020	3:g.33156020C>G	ClinGen:CA2300277	CN169374 not specified;
NM_006371.5(CRTAP):c.451C>T (p.Leu151=)	10491	CRTAP	Likely benign	202118861	RCV001949658;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33156020	33156020	33156020	-
NM_006371.5(CRTAP):c.452T>G (p.Leu151Arg)	10491	CRTAP	Uncertain significance	1405064021	RCV001317635;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33156021	33156021	33156021	-
NM_006371.5(CRTAP):c.452T>C (p.Leu151Pro)	10491	CRTAP	Likely pathogenic	1405064021	RCV002011676;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33156021	33156021	33156021	-
NM_006371.5(CRTAP):c.453G>A (p.Leu151=)	10491	CRTAP	Likely benign	1472276462	RCV001400354;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33156022	33156022	33156022	-
NM_006371.5(CRTAP):c.456G>C (p.Gln152His)	10491	CRTAP	Conflicting interpretations of pathogenicity	779447329	RCV000548675\|RCV002525305;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682\|MeSH:D030342,MedGen:C0950123	3	33156025	33156025	3:g.33156025G>C	ClinGen:CA2300279	C1853162 610682 Osteogenesis imperfecta type 7;
NM_006371.5(CRTAP):c.459C>G (p.Phe153Leu)	10491	CRTAP	Uncertain significance	531119589	RCV001244812;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33156028	33156028	3:g.33156028C>G	-
NM_006371.5(CRTAP):c.469A>C (p.Lys157Gln)	10491	CRTAP	Uncertain significance	137853942	RCV001892050;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33156038	33156038	33156038	-
NM_006371.5(CRTAP):c.470A>G (p.Lys157Arg)	10491	CRTAP	Pathogenic	2125596197	RCV002073407;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33156039	33156039	33156039	-
NM_006371.5(CRTAP):c.471+1G>C	10491	CRTAP	Pathogenic	72659359	RCV000005237;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33156041	33156041	NC_000003.11:g.33156041G>C	OMIM:605497.0003
NM_006371.5(CRTAP):c.471+2C>A	10491	CRTAP	Pathogenic/Likely pathogenic	137853943	RCV000190575\|RCV000255275\|RCV002277445;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682\|MedGen:CN517202\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666	3	33156042	33156042	3:g.33156042C>A	ClinGen:CA204553	CN517202 not provided;
NM_006371.5(CRTAP):c.471+2C>G	10491	CRTAP	Likely pathogenic	137853943	RCV000192794;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33156042	33156042	NC_000003.11:g.33156042C>G	ClinGen:CA205864	C1853162 610682 Osteogenesis imperfecta type 7;
NM_006371.5(CRTAP):c.471+2C>T	10491	CRTAP	Uncertain significance	137853943	RCV001051022;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33156042	33156042	3:g.33156042C>T	-
NM_006371.5(CRTAP):c.471+4A>G	10491	CRTAP	Likely pathogenic	549296015	RCV001325046;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33156044	33156044	33156044	-
NM_006371.5(CRTAP):c.471+7C>T	10491	CRTAP	Likely benign	-1	RCV002882193;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33156047	33156047	NC_000003.11:g.33156047C>T	-
NM_006371.5(CRTAP):c.471+8C>G	10491	CRTAP	Uncertain significance	1215281758	RCV001262351;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33156048	33156048	3:g.33156048C>G	-
NM_006371.5(CRTAP):c.471+9G>T	10491	CRTAP	Likely benign	763097630	RCV002112815;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33156049	33156049	33156049	-
NM_006371.5(CRTAP):c.471+9G>C	10491	CRTAP	Likely benign	-1	RCV002785534;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33156049	33156049	NC_000003.11:g.33156049G>C	-
NM_006371.5(CRTAP):c.471+11C>T	10491	CRTAP	Likely benign	-1	RCV002963419;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33156051	33156051	NC_000003.11:g.33156051C>T	-
NM_006371.5(CRTAP):c.471+13C>T	10491	CRTAP	Likely benign	770975997	RCV002155706;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33156053	33156053	33156053	-
NM_006371.5(CRTAP):c.471+14G>A	10491	CRTAP	Likely benign	1057480002	RCV002198713;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33156054	33156054	33156054	-
NM_006371.5(CRTAP):c.471+18C>T	10491	CRTAP	Likely benign	759716355	RCV002139973;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33156058	33156058	33156058	-
NM_006371.5(CRTAP):c.471+18C>A	10491	CRTAP	Likely benign	759716355	RCV002107826;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33156058	33156058	33156058	-
NM_006371.5(CRTAP):c.471+18C>G	10491	CRTAP	Likely benign	759716355	RCV002215266;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33156058	33156058	33156058	-
NM_006371.5(CRTAP):c.472-1021C>G	10491	CRTAP	Likely pathogenic	72659360	RCV000005235\|RCV003407276;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682\|	3	33160815	33160815	33160815	OMIM:605497.0001	C1853162 610682 Osteogenesis imperfecta type 7;
NM_006371.5(CRTAP):c.473C>G (p.Ala158Gly)	10491	CRTAP	Uncertain significance	-1	RCV002646634;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33161837	33161837	NC_000003.11:g.33161837C>G	-
NM_006371.5(CRTAP):c.495C>T (p.Ile165=)	10491	CRTAP	Likely benign	962349827	RCV001490019;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33161859	33161859	33161859	-
NM_006371.5(CRTAP):c.496G>A (p.Ala166Thr)	10491	CRTAP	Uncertain significance	1436939742	RCV001920931;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33161860	33161860	33161860	-
NM_006371.5(CRTAP):c.498C>T (p.Ala166=)	10491	CRTAP	Likely benign	1309501247	RCV002102577;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33161862	33161862	33161862	-
NM_006371.5(CRTAP):c.499G>A (p.Ala167Thr)	10491	CRTAP	Uncertain significance	754568024	RCV001304156;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33161863	33161863	33161863	-
NM_006371.5(CRTAP):c.514C>G (p.Leu172Val)	10491	CRTAP	Uncertain significance	142090883	RCV001967197\|RCV002560628;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682\|MeSH:D030342,MedGen:C0950123	3	33161878	33161878	33161878	-
NM_006371.5(CRTAP):c.516A>G (p.Leu172=)	10491	CRTAP	Likely benign	372425538	RCV000436839\|RCV002522425;	N	MedGen:CN169374\|MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33161880	33161880	3:g.33161880A>G	ClinGen:CA2300302	CN169374 not specified;
NM_006371.5(CRTAP):c.517C>G (p.Leu173Val)	10491	CRTAP	Uncertain significance	778115119	RCV001248372;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33161881	33161881	3:g.33161881C>G	-
NM_006371.5(CRTAP):c.518T>C (p.Leu173Pro)	10491	CRTAP	Uncertain significance	139024557	RCV001982552;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33161882	33161882	33161882	-
NM_006371.5(CRTAP):c.527C>A (p.Pro176His)	10491	CRTAP	Uncertain significance	-1	RCV002829563;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33161891	33161891	NC_000003.11:g.33161891C>A	-
NM_006371.5(CRTAP):c.528T>G (p.Pro176=)	10491	CRTAP	Conflicting interpretations of pathogenicity	774680682	RCV001146351;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33161892	33161892	3:g.33161892T>G	-
NM_006371.5(CRTAP):c.531T>C (p.Asp177=)	10491	CRTAP	Likely benign	571683222	RCV000864903;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33161895	33161895	3:g.33161895T>C	-
NM_006371.5(CRTAP):c.534C>T (p.Asp178=)	10491	CRTAP	Benign	4076086	RCV000175826\|RCV000608117;	N	MedGen:CN169374\|MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33161898	33161898	3:g.33161898C>T	ClinGen:CA201645	CN169374 not specified;
NM_006371.5(CRTAP):c.534C>G (p.Asp178Glu)	10491	CRTAP	Uncertain significance	4076086	RCV001146352;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33161898	33161898	3:g.33161898C>G	-
NM_006371.5(CRTAP):c.535G>A (p.Glu179Lys)	10491	CRTAP	Uncertain significance	953081958	RCV000823929;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33161899	33161899	3:g.33161899G>A	-
NM_006371.5(CRTAP):c.542T>C (p.Met181Thr)	10491	CRTAP	Uncertain significance	2125598667	RCV001921685;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33161906	33161906	33161906	-
NM_006371.5(CRTAP):c.544A>C (p.Lys182Gln)	10491	CRTAP	Uncertain significance	-1	RCV003091517;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33161908	33161908	NC_000003.11:g.33161908A>C	-
NM_006371.5(CRTAP):c.558A>G (p.Ala186=)	10491	CRTAP	Benign	35357409	RCV000175827\|RCV000513989\|RCV001000262\|RCV002277366;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666	3	33161922	33161922	3:g.33161922A>G	ClinGen:CA201648	CN517202 not provided;
NM_006371.5(CRTAP):c.558A>T (p.Ala186=)	10491	CRTAP	Likely benign	35357409	RCV001404187;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33161922	33161922	3:g.33161922A>T	-
NM_006371.5(CRTAP):c.561T>G (p.Tyr187Ter)	10491	CRTAP	Pathogenic	387907334	RCV000034836;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33161925	33161925	3:g.33161925T>G	ClinGen:CA130914,OMIM:605497.0008	C1853162 610682 Osteogenesis imperfecta type 7;
NM_006371.5(CRTAP):c.582C>T (p.Ala194=)	10491	CRTAP	Likely benign	149165428	RCV002114334;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33161946	33161946	33161946	-
NM_006371.5(CRTAP):c.583G>A (p.Glu195Lys)	10491	CRTAP	Uncertain significance	201267683	RCV000421177\|RCV001039094\|RCV002278543\|RCV003168521;	N	MedGen:C3661900\|MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666\|MeSH:D030342,MedGen:C0950123	3	33161947	33161947	NC_000003.11:g.33161947G>A	ClinGen:CA2300318	CN169374 not specified;
NM_006371.5(CRTAP):c.585G>A (p.Glu195=)	10491	CRTAP	Likely benign	1208285123	RCV000544907;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33161949	33161949	3:g.33161949G>A	ClinGen:CA432959637	C1853162 610682 Osteogenesis imperfecta type 7;
NM_006371.5(CRTAP):c.601C>T (p.Leu201=)	10491	CRTAP	Likely benign	-1	RCV002866628;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33161965	33161965		-
NM_006371.5(CRTAP):c.602T>G (p.Leu201Arg)	10491	CRTAP	Uncertain significance	376333603	RCV001306806;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33161966	33161966	33161966	-
NM_006371.5(CRTAP):c.609C>G (p.Thr203=)	10491	CRTAP	Likely benign	778959807	RCV002542227;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33161973	33161973	3:g.33161973C>G	-
NM_006371.5(CRTAP):c.611A>C (p.Lys204Thr)	10491	CRTAP	Uncertain significance	145623565	RCV001892046\|RCV002300611;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682\|MedGen:C3661900	3	33161975	33161975	33161975	-
NM_006371.5(CRTAP):c.621A>T (p.Glu207Asp)	10491	CRTAP	Uncertain significance	-1	RCV002619982;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33161985	33161985	NC_000003.11:g.33161985A>T	-
NM_006371.5(CRTAP):c.621+8T>C	10491	CRTAP	Likely benign	2125598738	RCV001502528;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33161993	33161993	33161993	-
NM_006371.5(CRTAP):c.622-18C>T	10491	CRTAP	Likely benign	2125600371	RCV002145853;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33165882	33165882	33165882	-
NM_006371.5(CRTAP):c.622-16T>C	10491	CRTAP	Benign	147610884	RCV000427487\|RCV002061661;	N	MedGen:CN169374\|MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33165884	33165884	3:g.33165884T>C	ClinGen:CA2300333	CN169374 not specified;
NM_006371.5(CRTAP):c.622-15C>A	10491	CRTAP	Likely benign	553702665	RCV002164923;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33165885	33165885	33165885	-
NM_006371.5(CRTAP):c.622-3C>G	10491	CRTAP	Uncertain significance	563594799	RCV000793754;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33165897	33165897	3:g.33165897C>G	-
NM_006371.5(CRTAP):c.623G>A (p.Ser208Asn)	10491	CRTAP	Benign	574565076	RCV002066417;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33165901	33165901	3:g.33165901G>A	-
NM_006371.5(CRTAP):c.633C>T (p.Ile211=)	10491	CRTAP	Likely benign	-1	RCV002587586;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33165911	33165911		-
NM_006371.5(CRTAP):c.634C>T (p.Arg212Ter)	10491	CRTAP	Conflicting interpretations of pathogenicity	137853944	RCV000368253;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33165912	33165912	NC_000003.11:g.33165912C>T	ClinGen:CA2300343	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.636A>C (p.Arg212=)	10491	CRTAP	Likely benign	749259974	RCV000436408\|RCV000537109;	N	MedGen:CN169374\|MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33165914	33165914	3:g.33165914A>C	ClinGen:CA2300345	CN169374 not specified;
NM_006371.5(CRTAP):c.641T>C (p.Val214Ala)	10491	CRTAP	Benign	146124454	RCV000364220\|RCV000547867\|RCV001573099\|RCV002278288;	N	MedGen:CN169374\|MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682\|MedGen:C3661900\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666	3	33165919	33165919	3:g.33165919T>C	ClinGen:CA2300348	CN169374 not specified;
NM_006371.5(CRTAP):c.643C>T (p.Arg215Trp)	10491	CRTAP	Uncertain significance	149281572	RCV000804826;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33165921	33165921	3:g.33165921C>T	-
NM_006371.5(CRTAP):c.644G>A (p.Arg215Gln)	10491	CRTAP	Uncertain significance	572086683	RCV001037812;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33165922	33165922	3:g.33165922G>A	-
NM_006371.5(CRTAP):c.654C>T (p.Asn218=)	10491	CRTAP	Conflicting interpretations of pathogenicity	144486582	RCV000526157\|RCV000607982;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682\|MedGen:CN169374	3	33165932	33165932	3:g.33165932C>T	ClinGen:CA2300353	CN169374 not specified;
NM_006371.5(CRTAP):c.655G>A (p.Gly219Ser)	10491	CRTAP	Conflicting interpretations of pathogenicity	145048208	RCV000540867;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33165933	33165933	NC_000003.11:g.33165933G>A	ClinGen:CA2300355	C1853162 610682 Osteogenesis imperfecta type 7;
NM_006371.5(CRTAP):c.657T>G (p.Gly219=)	10491	CRTAP	Likely benign	-1	RCV003051192;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33165935	33165935		-
NM_006371.5(CRTAP):c.667A>C (p.Arg223=)	10491	CRTAP	Likely benign	780393476	RCV002097061;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33165945	33165945	33165945	-
NM_006371.5(CRTAP):c.677T>A (p.Ile226Asn)	10491	CRTAP	Uncertain significance	2029999836	RCV001346588;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33165955	33165955	33165955	-
NM_006371.5(CRTAP):c.680C>T (p.Thr227Ile)	10491	CRTAP	Uncertain significance	564175168	RCV001973126;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33165958	33165958	33165958	-
NM_006371.5(CRTAP):c.684C>G (p.Asp228Glu)	10491	CRTAP	Uncertain significance	-1	RCV002609015;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33165962	33165962	NC_000003.11:g.33165962C>G	-
NM_006371.5(CRTAP):c.685A>T (p.Met229Leu)	10491	CRTAP	Uncertain significance	-1	RCV003056857;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33165963	33165963	NC_000003.11:g.33165963A>T	-
NM_006371.5(CRTAP):c.687G>A (p.Met229Ile)	10491	CRTAP	Uncertain significance	-1	RCV003107109;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33165965	33165965	NC_000003.11:g.33165965G>A	-
NM_006371.5(CRTAP):c.688G>T (p.Glu230Ter)	10491	CRTAP	Likely pathogenic	1488345176	RCV002251213;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33165966	33165966	33165966	-
NM_006371.5(CRTAP):c.702C>T (p.Pro234=)	10491	CRTAP	Conflicting interpretations of pathogenicity	371017739	RCV000641678\|RCV002279463;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666	3	33165980	33165980	3:g.33165980C>T	ClinGen:CA2300362	C1853162 610682 Osteogenesis imperfecta type 7;
NM_006371.5(CRTAP):c.703G>A (p.Asp235Asn)	10491	CRTAP	Uncertain significance	770887829	RCV001150657;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33165981	33165981	3:g.33165981G>A	-
NM_006371.5(CRTAP):c.721T>G (p.Tyr241Asp)	10491	CRTAP	Uncertain significance	2125600442	RCV002001710;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33165999	33165999	33165999	-
NM_006371.5(CRTAP):c.723C>T (p.Tyr241=)	10491	CRTAP	Likely benign	-1	RCV002967740;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33166001	33166001		-
NM_006371.5(CRTAP):c.724G>A (p.Glu242Lys)	10491	CRTAP	Uncertain significance	147836108	RCV000824458;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33166002	33166002	3:g.33166002G>A	-
NM_006371.5(CRTAP):c.728G>A (p.Cys243Tyr)	10491	CRTAP	Uncertain significance	-1	RCV002296059;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33166006	33166006	33166006	-
NM_006371.5(CRTAP):c.731_732del (p.Leu244fs)	10491	CRTAP	Pathogenic	760337365	RCV001939348;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33166007	33166008	33166006	-
NM_006371.5(CRTAP):c.732C>T (p.Leu244=)	10491	CRTAP	Conflicting interpretations of pathogenicity	149119710	RCV000290568\|RCV000551070\|RCV001537842\|RCV002278291;	N	MedGen:CN169374\|MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682\|MedGen:C3661900\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666	3	33166010	33166010	3:g.33166010C>T	ClinGen:CA2300367	CN169374 not specified;
NM_006371.5(CRTAP):c.733G>A (p.Ala245Thr)	10491	CRTAP	Uncertain significance	-1	RCV002634044;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33166011	33166011	NC_000003.11:g.33166011G>A	-
NM_006371.5(CRTAP):c.741C>T (p.Cys247=)	10491	CRTAP	Likely benign	-1	RCV002740027;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33166019	33166019		-
NM_006371.5(CRTAP):c.742G>A (p.Glu248Lys)	10491	CRTAP	Uncertain significance	765752550	RCV002037334;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33166020	33166020	33166020	-
NM_006371.5(CRTAP):c.744G>A (p.Glu248=)	10491	CRTAP	Likely benign	371845227	RCV002098727;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33166022	33166022	33166022	-
NM_006371.5(CRTAP):c.751A>G (p.Arg251Gly)	10491	CRTAP	Uncertain significance	1351893746	RCV000641675;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33166029	33166029	3:g.33166029A>G	ClinGen:CA352009543	C1853162 610682 Osteogenesis imperfecta type 7;
NM_006371.5(CRTAP):c.756G>C (p.Glu252Asp)	10491	CRTAP	Uncertain significance	116519163	RCV001062256;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33166034	33166034	NC_000003.11:g.33166034G>C	ClinGen:CA2300378	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.756G>A (p.Glu252=)	10491	CRTAP	Likely benign	116519163	RCV000525380;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33166034	33166034	NC_000003.11:g.33166034G>A	ClinGen:CA2300377	C1853162 610682 Osteogenesis imperfecta type 7;
NM_006371.5(CRTAP):c.759C>T (p.Ile253=)	10491	CRTAP	Likely benign	752798767	RCV001458682;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33166037	33166037	33166037	-
NM_006371.5(CRTAP):c.760A>G (p.Lys254Glu)	10491	CRTAP	Uncertain significance	756183963	RCV000793897;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33166038	33166038	3:g.33166038A>G	-
NM_006371.5(CRTAP):c.761A>G (p.Lys254Arg)	10491	CRTAP	Uncertain significance	114245114	RCV001331575;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33166039	33166039	33166039	-
NM_006371.5(CRTAP):c.767T>G (p.Phe256Cys)	10491	CRTAP	Uncertain significance	139099707	RCV000260626;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33166045	33166045	NC_000003.11:g.33166045T>G	ClinGen:CA2300382	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.769A>C (p.Lys257Gln)	10491	CRTAP	Uncertain significance	-1	RCV003038311;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33166047	33166047	NC_000003.11:g.33166047A>C	-
NM_006371.5(CRTAP):c.793+16A>G	10491	CRTAP	Uncertain significance	-1	RCV002922585;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33166087	33166087	NC_000003.11:g.33166087A>G	-
NM_006371.5(CRTAP):c.793+17T>A	10491	CRTAP	Likely benign	767057725	RCV000607804\|RCV002532777;	N	MedGen:CN169374\|MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33166088	33166088	3:g.33166088T>A	ClinGen:CA2300392	CN169374 not specified;
NM_006371.5(CRTAP):c.794-14_794-13del	10491	CRTAP	Likely benign	770107661	RCV002180477;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33171414	33171415	33171413	-
NM_006371.5(CRTAP):c.794-16A>G	10491	CRTAP	Likely benign	-1	RCV003002729;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33171415	33171415	NC_000003.11:g.33171415A>G	-
NM_006371.5(CRTAP):c.794-3C>T	10491	CRTAP	Uncertain significance	-1	RCV003114856;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33171428	33171428	NC_000003.11:g.33171428C>T	-
NM_006371.5(CRTAP):c.794-2A>G	10491	CRTAP	Likely pathogenic	2125602711	RCV001971483;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33171429	33171429	33171429	-
NM_006371.5(CRTAP):c.794-1G>C	10491	CRTAP	Likely pathogenic	-1	RCV003082455;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33171430	33171430	NC_000003.11:g.33171430G>C	-
NM_006371.5(CRTAP):c.802G>A (p.Val268Ile)	10491	CRTAP	Uncertain significance	112423184	RCV002011368;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33171439	33171439	33171439	-
NM_006371.5(CRTAP):c.825A>G (p.Ile275Met)	10491	CRTAP	Uncertain significance	764370024	RCV001904312;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33171462	33171462	33171462	-
NM_006371.5(CRTAP):c.826C>T (p.Gln276Ter)	10491	CRTAP	Pathogenic	72659361	RCV000005238\|RCV001269605;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682\|MedGen:C3661900	3	33171463	33171463	3:g.33171463C>T	ClinGen:CA117150,OMIM:605497.0004	C1853162 610682 Osteogenesis imperfecta type 7;
NM_006371.5(CRTAP):c.851T>C (p.Val284Ala)	10491	CRTAP	Uncertain significance	747772727	RCV001879162;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33171488	33171488	33171488	-
NM_006371.5(CRTAP):c.866C>T (p.Pro289Leu)	10491	CRTAP	Uncertain significance	147140948	RCV001171833\|RCV000641674;	N	MedGen:C3661900\|MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33171503	33171503	3:g.33171503C>T	ClinGen:CA2300428	C1853162 610682 Osteogenesis imperfecta type 7;
NM_006371.5(CRTAP):c.867G>A (p.Pro289=)	10491	CRTAP	Likely benign	746374230	RCV001404223;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33171504	33171504	33171504	-
NM_006371.5(CRTAP):c.879del (p.Phe293fs)	10491	CRTAP	Pathogenic	72659362	RCV000005236;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33171514	33171514	NC_000003.11:g.33171516del	OMIM:605497.0002
NM_006371.5(CRTAP):c.888C>T (p.Thr296=)	10491	CRTAP	Benign	13637	RCV001000324\|RCV001706668;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682\|MedGen:C3661900	3	33171525	33171525	3:g.33171525C>T	ClinGen:CA2300431	CN169374 not specified;
NM_006371.5(CRTAP):c.889A>G (p.Met297Val)	10491	CRTAP	Uncertain significance	761161112	RCV001237783;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33171526	33171526	3:g.33171526A>G	-
NM_006371.5(CRTAP):c.896A>G (p.His299Arg)	10491	CRTAP	Uncertain significance	-1	RCV002646214;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33171533	33171533	NC_000003.11:g.33171533A>G	-
NM_006371.5(CRTAP):c.900C>T (p.Tyr300=)	10491	CRTAP	Likely benign	776879779	RCV002146346;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33171537	33171537	33171537	-
NM_006371.5(CRTAP):c.903_908del (p.Leu301_Gln302del)	10491	CRTAP	Uncertain significance	2030205751	RCV001323847;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33171538	33171543	33171537	-
NM_006371.5(CRTAP):c.904C>A (p.Gln302Lys)	10491	CRTAP	Uncertain significance	2030205875	RCV001214595;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33171541	33171541	3:g.33171541C>A	-
NM_006371.5(CRTAP):c.918T>C (p.Tyr306=)	10491	CRTAP	Likely benign	140613561	RCV002093636;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33171555	33171555	33171555	-
NM_006371.5(CRTAP):c.922+8A>G	10491	CRTAP	Likely benign	368259273	RCV001419771;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33171567	33171567	33171567	-
NM_006371.5(CRTAP):c.922+14del	10491	CRTAP	Likely benign	-1	RCV002650534;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33171573	33171573	NC_000003.11:g.33171573del	-
NM_006371.5(CRTAP):c.922+18A>G	10491	CRTAP	Likely benign	-1	RCV003061326;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33171577	33171577	NC_000003.11:g.33171577A>G	-
NM_006371.5(CRTAP):c.923-19C>T	10491	CRTAP	Likely benign	1194244572	RCV002221065;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33174028	33174028	33174028	-
NM_006371.5(CRTAP):c.927C>T (p.Asn309=)	10491	CRTAP	Likely benign	-1	RCV002975875;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33174051	33174051		-
NM_006371.5(CRTAP):c.928G>A (p.Asp310Asn)	10491	CRTAP	Uncertain significance	111525897	RCV001051315;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33174052	33174052	3:g.33174052G>A	-
NM_006371.5(CRTAP):c.930C>T (p.Asp310=)	10491	CRTAP	Conflicting interpretations of pathogenicity	762039541	RCV000322818;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33174054	33174054	NC_000003.11:g.33174054C>T	ClinGen:CA10615647	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.953C>T (p.Ala318Val)	10491	CRTAP	Uncertain significance	114178925	RCV001214228;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33174077	33174077	3:g.33174077C>T	-
NM_006371.5(CRTAP):c.959G>A (p.Ser320Asn)	10491	CRTAP	Uncertain significance	2125603844	RCV001974767;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33174083	33174083	33174083	-
NM_006371.5(CRTAP):c.962A>G (p.Tyr321Cys)	10491	CRTAP	Uncertain significance	-1	RCV002966177;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33174086	33174086	NC_000003.11:g.33174086A>G	-
NM_006371.5(CRTAP):c.969C>T (p.Leu323=)	10491	CRTAP	Likely benign	1318916871	RCV002127858;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33174093	33174093	33174093	-
NM_006371.5(CRTAP):c.976C>G (p.Gln326Glu)	10491	CRTAP	Uncertain significance	116821774	RCV001150658;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33174100	33174100	3:g.33174100C>G	-
NM_006371.5(CRTAP):c.986A>G (p.Lys329Arg)	10491	CRTAP	Uncertain significance	757967789	RCV001294519;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33174110	33174110	33174110	-
NM_006371.5(CRTAP):c.988G>A (p.Val330Ile)	10491	CRTAP	Uncertain significance	2030300085	RCV001196699;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33174112	33174112	3:g.33174112G>A	-
NM_006371.5(CRTAP):c.1001del (p.Asn334fs)	10491	CRTAP	Pathogenic	2125603874	RCV001901155;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33174124	33174124	33174123	-
NM_006371.5(CRTAP):c.1016dup (p.Tyr340fs)	10491	CRTAP	Likely pathogenic	-1	RCV003340761;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33174139	33174140		-
NM_006371.5(CRTAP):c.1022A>G (p.His341Arg)	10491	CRTAP	Uncertain significance	781545232	RCV000361018\|RCV002278544;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666	3	33174146	33174146	NC_000003.11:g.33174146A>G	ClinGen:CA2300469	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.1030A>G (p.Thr344Ala)	10491	CRTAP	Uncertain significance	1575518722	RCV002023782;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33174154	33174154	33174154	-
NM_006371.5(CRTAP):c.1031C>A (p.Thr344Asn)	10491	CRTAP	Uncertain significance	1305456639	RCV001867601;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33174155	33174155	33174155	-
NM_006371.5(CRTAP):c.1032T>G (p.Thr344=)	10491	CRTAP	Benign	1135127	RCV000246595\|RCV000612944;	N	MedGen:CN169374\|MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33174156	33174156	NC_000003.11:g.33174156T>G	ClinGen:CA2300470	CN169374 not specified;
NM_006371.5(CRTAP):c.1039C>T (p.Leu347Phe)	10491	CRTAP	Conflicting interpretations of pathogenicity	115198029	RCV000506973\|RCV000766891\|RCV000999850\|RCV002279286;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682\|MONDO:MONDO:0019019,MeSH:D010013,MedGen:C0029434,OMIM:PS166200, Orphanet:666	3	33174163	33174163	3:g.33174163C>T	ClinGen:CA2300475	CN169374 not specified;
NM_006371.5(CRTAP):c.1044G>A (p.Ser348=)	10491	CRTAP	Benign	1135128	RCV000251530\|RCV000602578;	N	MedGen:CN169374\|MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33174168	33174168	3:g.33174168G>A	ClinGen:CA2300477	CN169374 not specified;
NM_006371.5(CRTAP):c.1059G>A (p.Gln353=)	10491	CRTAP	Likely benign	2125603921	RCV001435685;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33174183	33174183	33174183	-
NM_006371.5(CRTAP):c.1067C>G (p.Pro356Arg)	10491	CRTAP	Uncertain significance	1487896301	RCV002005677;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33174191	33174191	33174191	-
NM_006371.5(CRTAP):c.1068+11T>C	10491	CRTAP	Conflicting interpretations of pathogenicity	761750861	RCV000383107;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33174203	33174203	NC_000003.11:g.33174203T>C	ClinGen:CA2300479	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.1068+12G>A	10491	CRTAP	Uncertain significance	-1	RCV002933503;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33174204	33174204	NC_000003.11:g.33174204G>A	-
NM_006371.5(CRTAP):c.1111C>T (p.Leu371=)	10491	CRTAP	Likely benign	377713659	RCV002072662;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33175716	33175716	33175716	-
NM_006371.5(CRTAP):c.1112T>C (p.Leu371Pro)	10491	CRTAP	Uncertain significance	-1	RCV002899509;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33175717	33175717	NC_000003.11:g.33175717T>C	-
NM_006371.5(CRTAP):c.1129G>A (p.Glu377Lys)	10491	CRTAP	Uncertain significance	546298253	RCV001208347;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33175734	33175734	3:g.33175734G>A	-
NM_006371.5(CRTAP):c.1135A>G (p.Ile379Val)	10491	CRTAP	Uncertain significance	-1	RCV003015753;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33175740	33175740	NC_000003.11:g.33175740A>G	-
NM_006371.5(CRTAP):c.1138A>G (p.Met380Val)	10491	CRTAP	Uncertain significance	2030358355	RCV001144554;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33175743	33175743	3:g.33175743A>G	-
NM_006371.5(CRTAP):c.1141del (p.Asp381fs)	10491	CRTAP	Uncertain significance	-1	RCV002843451;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33175745	33175745	NC_000003.11:g.33175746del	-
NM_006371.5(CRTAP):c.1151A>G (p.Glu384Gly)	10491	CRTAP	Uncertain significance	754519818	RCV001321230;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33175756	33175756	33175756	-
NM_006371.5(CRTAP):c.1152+5G>C	10491	CRTAP	Uncertain significance	1553617810	RCV000504608;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33175762	33175762	3:g.33175762G>C	ClinGen:CA645509125	C1853162 610682 Osteogenesis imperfecta type 7;
NM_006371.5(CRTAP):c.1152+10del	10491	CRTAP	Likely benign	1167597599	RCV000546482;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33175767	33175767	NC_000003.11:g.33175767del	ClinGen:CA658657282	C1853162 610682 Osteogenesis imperfecta type 7;
NM_006371.5(CRTAP):c.1152+36C>A	10491	CRTAP	Benign	4234239	RCV000834191\|RCV001664469;	N	MedGen:C3661900\|MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33175793	33175793	3:g.33175793C>A	-
NC_000003.11:g.(?_33183867)_(33183940_?)del	10491	CRTAP	Uncertain significance	-1	RCV003109512;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33183867	33183940		-
NM_006371.5(CRTAP):c.1153-8T>C	10491	CRTAP	Likely benign	200397785	RCV000876898;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33183879	33183879	3:g.33183879T>C	-
NM_006371.5(CRTAP):c.1153-3C>G	10491	CRTAP	Pathogenic	201554363	RCV001318996;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33183884	33183884	33183884	-
NM_006371.5(CRTAP):c.1153-3C>T	10491	CRTAP	Uncertain significance	-1	RCV002979265;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33183884	33183884	NC_000003.11:g.33183884C>T	-
NM_006371.5(CRTAP):c.1182C>G (p.Leu394=)	10491	CRTAP	Likely benign	1393973409	RCV001000423;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33183916	33183916	3:g.33183916C>G	-
NM_006371.5(CRTAP):c.1192G>A (p.Glu398Lys)	10491	CRTAP	Uncertain significance	201513139	RCV001984998;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33183926	33183926	33183926	-
NM_006371.5(CRTAP):c.*31C>T	10491	CRTAP	Likely benign	149138748	RCV001144555;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33183971	33183971	3:g.33183971C>T	-
NM_006371.5(CRTAP):c.*50C>G	10491	CRTAP	Uncertain significance	371999646	RCV001144556;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33183990	33183990	3:g.33183990C>G	-
NM_006371.5(CRTAP):c.*69G>T	10491	CRTAP	Uncertain significance	2030606287	RCV001144557;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33184009	33184009	3:g.33184009G>T	-
NM_006371.5(CRTAP):c.*225G>C	10491	CRTAP	Uncertain significance	886058347	RCV000325846;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33184165	33184165	NC_000003.11:g.33184165G>C	ClinGen:CA10618117	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*238G>A	10491	CRTAP	Uncertain significance	886058348	RCV000382765;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33184178	33184178	NC_000003.11:g.33184178G>A	ClinGen:CA10618119	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*269C>T	10491	CRTAP	Benign	143237314	RCV000295408\|RCV001672628;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682\|MedGen:C3661900	3	33184209	33184209	NC_000003.11:g.33184209C>T	ClinGen:CA10618120	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*288C>T	10491	CRTAP	Likely benign	111603077	RCV001146485\|RCV001560500;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682\|MedGen:C3661900	3	33184228	33184228	3:g.33184228C>T	-
NM_006371.5(CRTAP):c.*293G>A	10491	CRTAP	Uncertain significance	939604527	RCV001146486;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33184233	33184233	3:g.33184233G>A	-
NM_006371.5(CRTAP):c.*348A>G	10491	CRTAP	Uncertain significance	886058349	RCV000352810;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33184288	33184288	NC_000003.11:g.33184288A>G	ClinGen:CA10616131	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*422T>C	10491	CRTAP	Uncertain significance	763428960	RCV001146487;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33184362	33184362	3:g.33184362T>C	-
NM_006371.5(CRTAP):c.*496A>G	10491	CRTAP	Uncertain significance	1414037282	RCV001146488;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33184436	33184436	3:g.33184436A>G	-
NM_006371.5(CRTAP):c.*501C>T	10491	CRTAP	Uncertain significance	115581077	RCV001146489;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33184441	33184441	3:g.33184441C>T	-
NM_006371.5(CRTAP):c.*526G>C	10491	CRTAP	Uncertain significance	886058351	RCV000294436;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33184466	33184466	NC_000003.11:g.33184466G>C	ClinGen:CA10615652	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*539C>G	10491	CRTAP	Uncertain significance	750130051	RCV000337706;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33184479	33184479	NC_000003.11:g.33184479C>G	ClinGen:CA10615656	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*608G>A	10491	CRTAP	Uncertain significance	886058352	RCV000408263;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33184548	33184548	NC_000003.11:g.33184548G>A	ClinGen:CA10618122	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*670G>A	10491	CRTAP	Uncertain significance	558551071	RCV000297473;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33184610	33184610	NC_000003.11:g.33184610G>A	ClinGen:CA10618125	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*703A>T	10491	CRTAP	Uncertain significance	886058353	RCV000354700;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33184643	33184643	NC_000003.11:g.33184643A>T	ClinGen:CA10618472	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*712A>T	10491	CRTAP	Uncertain significance	544339410	RCV001149260;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33184652	33184652	3:g.33184652A>T	-
NM_006371.5(CRTAP):c.*777C>A	10491	CRTAP	Benign	116759530	RCV000402746;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33184717	33184717	NC_000003.11:g.33184717C>A	ClinGen:CA10615657	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*865C>G	10491	CRTAP	Uncertain significance	545771795	RCV000306062;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33184805	33184805	3:g.33184805C>G	ClinGen:CA10616133	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*910T>C	10491	CRTAP	Uncertain significance	886058354	RCV000358453;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33184850	33184850	NC_000003.11:g.33184850T>C	ClinGen:CA10615658	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*982A>G	10491	CRTAP	Benign	78409158	RCV001150762;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33184922	33184922	3:g.33184922A>G	-
NM_006371.5(CRTAP):c.*991C>T	10491	CRTAP	Uncertain significance	886058355	RCV000266040;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33184931	33184931	3:g.33184931C>T	ClinGen:CA10615660	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*1041C>T	10491	CRTAP	Likely benign	114487086	RCV001150763;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33184981	33184981	3:g.33184981C>T	-
NM_006371.5(CRTAP):c.*1071G>T	10491	CRTAP	Uncertain significance	140601474	RCV001150764;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33185011	33185011	3:g.33185011G>T	-
NM_006371.5(CRTAP):c.*1124C>A	10491	CRTAP	Likely benign	570473174	RCV000269994;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33185064	33185064	3:g.33185064C>A	ClinGen:CA10616134	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*1181A>T	10491	CRTAP	Uncertain significance	556192429	RCV000332193;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33185121	33185121	3:g.33185121A>T	ClinGen:CA10616135	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*1193A>G	10491	CRTAP	Uncertain significance	1026331026	RCV001150765;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33185133	33185133	3:g.33185133A>G	-
NM_006371.5(CRTAP):c.*1254C>A	10491	CRTAP	Uncertain significance	886058357	RCV000389019;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33185194	33185194	3:g.33185194C>A	ClinGen:CA10618128	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*1361G>A	10491	CRTAP	Uncertain significance	112399944	RCV000330817;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33185301	33185301	NC_000003.11:g.33185301G>A	ClinGen:CA10616137	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*1397G>A	10491	CRTAP	Uncertain significance	528373518	RCV001144662;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33185337	33185337	3:g.33185337G>A	-
NM_006371.5(CRTAP):c.*1431C>T	10491	CRTAP	Uncertain significance	543450336	RCV001144663;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33185371	33185371	3:g.33185371C>T	-
NM_006371.5(CRTAP):c.*1460C>T	10491	CRTAP	Uncertain significance	768618170	RCV000373823;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33185400	33185400	NC_000003.11:g.33185400C>T	ClinGen:CA10616138	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*1467G>A	10491	CRTAP	Benign	4678475	RCV000281743;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33185407	33185407	NC_000003.11:g.33185407G>A	ClinGen:CA10616151	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*1564A>G	10491	CRTAP	Uncertain significance	886058359	RCV000334682;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33185504	33185504	NC_000003.11:g.33185504A>G	ClinGen:CA10615663	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*1582C>A	10491	CRTAP	Benign	1137463	RCV000391367;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33185522	33185522	NC_000003.11:g.33185522C>A	ClinGen:CA10618475	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*1606C>G	10491	CRTAP	Uncertain significance	2030655041	RCV001146609;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33185546	33185546	3:g.33185546C>G	-
NM_006371.5(CRTAP):c.*1608A>G	10491	CRTAP	Uncertain significance	904905604	RCV001146610;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33185548	33185548	3:g.33185548A>G	-
NM_006371.5(CRTAP):c.*1614G>A	10491	CRTAP	Uncertain significance	886058360	RCV000285381;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33185554	33185554	NC_000003.11:g.33185554G>A	ClinGen:CA10615665	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*1637G>C	10491	CRTAP	Uncertain significance	538128865	RCV000342745;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33185577	33185577	NC_000003.11:g.33185577G>C	ClinGen:CA10616164	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*1853A>G	10491	CRTAP	Uncertain significance	1430038230	RCV001146611;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33185793	33185793	3:g.33185793A>G	-
NM_006371.5(CRTAP):c.*1858T>A	10491	CRTAP	Benign	4678476	RCV000391352;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33185798	33185798	NC_000003.11:g.33185798T>A	ClinGen:CA10618134	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*1861A>G	10491	CRTAP	Likely benign	553553619	RCV001146612;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33185801	33185801	3:g.33185801A>G	-
NM_006371.5(CRTAP):c.*1919A>G	10491	CRTAP	Benign	4429578	RCV000303161;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33185859	33185859	NC_000003.11:g.33185859A>G	ClinGen:CA10616170	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*2071A>G	10491	CRTAP	Uncertain significance	969150344	RCV001147527;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33186011	33186011	3:g.33186011A>G	-
NM_006371.5(CRTAP):c.*2113A>G	10491	CRTAP	Uncertain significance	774529962	RCV001147528;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33186053	33186053	3:g.33186053A>G	-
NM_006371.5(CRTAP):c.*2129A>G	10491	CRTAP	Uncertain significance	557919030	RCV001147529;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33186069	33186069	3:g.33186069A>G	-
NM_006371.5(CRTAP):c.*2146C>A	10491	CRTAP	Uncertain significance	113966745	RCV000346442;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33186086	33186086	3:g.33186086C>A	ClinGen:CA10618135	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*2146C>T	10491	CRTAP	Uncertain significance	113966745	RCV000403787;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33186086	33186086	NC_000003.11:g.33186086C>T	ClinGen:CA10618138	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*2147A>G	10491	CRTAP	Benign	4355234	RCV000306824;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33186087	33186087	NC_000003.11:g.33186087A>G	ClinGen:CA10616177	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*2218C>T	10491	CRTAP	Uncertain significance	886058361	RCV000363877;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33186158	33186158	NC_000003.11:g.33186158C>T	ClinGen:CA10618139	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*2242A>C	10491	CRTAP	Uncertain significance	886058362	RCV000274969;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33186182	33186182	NC_000003.11:g.33186182A>C	ClinGen:CA10615669	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*2302G>A	10491	CRTAP	Uncertain significance	886058363	RCV000311349;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33186242	33186242	NC_000003.11:g.33186242G>A	ClinGen:CA10616179	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*2416T>C	10491	CRTAP	Benign	1127898	RCV000370650;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33186356	33186356	NC_000003.11:g.33186356T>C	ClinGen:CA10618487	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*2431G>A	10491	CRTAP	Uncertain significance	886058364	RCV000276105;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33186371	33186371	NC_000003.11:g.33186371G>A	ClinGen:CA10615670	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*2435T>G	10491	CRTAP	Uncertain significance	1370062497	RCV001150863;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33186375	33186375	3:g.33186375T>G	-
NM_006371.5(CRTAP):c.*2456T>G	10491	CRTAP	Uncertain significance	566327751	RCV001150864;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33186396	33186396	3:g.33186396T>G	-
NM_006371.5(CRTAP):c.*2474T>G	10491	CRTAP	Likely benign	78745278	RCV001150865;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33186414	33186414	3:g.33186414T>G	-
NM_006371.5(CRTAP):c.*2524G>A	10491	CRTAP	Likely benign	150800828	RCV001150866;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33186464	33186464	3:g.33186464G>A	-
NM_006371.5(CRTAP):c.*2585G>C	10491	CRTAP	Uncertain significance	886058365	RCV000317102;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33186525	33186525	NC_000003.11:g.33186525G>C	ClinGen:CA10615675	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*2628G>A	10491	CRTAP	Benign	115744599	RCV001144748;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33186568	33186568	3:g.33186568G>A	-
NM_006371.5(CRTAP):c.*2674A>G	10491	CRTAP	Uncertain significance	528845478	RCV001144749;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33186614	33186614	3:g.33186614A>G	-
NM_006371.5(CRTAP):c.*2679G>A	10491	CRTAP	Uncertain significance	547363446	RCV001144750;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33186619	33186619	3:g.33186619G>A	-
NM_006371.5(CRTAP):c.*2687C>T	10491	CRTAP	Uncertain significance	565676142	RCV001144751;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33186627	33186627	3:g.33186627C>T	-
NM_006371.5(CRTAP):c.*2693C>T	10491	CRTAP	Uncertain significance	149468116	RCV001144752;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33186633	33186633	3:g.33186633C>T	-
NM_006371.5(CRTAP):c.*2829C>G	10491	CRTAP	Uncertain significance	1412857097	RCV001144753;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33186769	33186769	3:g.33186769C>G	-
NM_006371.5(CRTAP):c.*2837G>T	10491	CRTAP	Uncertain significance	764661352	RCV000371760;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33186777	33186777	NC_000003.11:g.33186777G>T	ClinGen:CA10616185	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*2876C>T	10491	CRTAP	Likely benign	147135876	RCV001146720;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33186816	33186816	3:g.33186816C>T	-
NM_006371.5(CRTAP):c.*2901G>C	10491	CRTAP	Benign	72857502	RCV000262929;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33186841	33186841	NC_000003.11:g.33186841G>C	ClinGen:CA10618140	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*2943A>G	10491	CRTAP	Likely benign	115684525	RCV000318081;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33186883	33186883	NC_000003.11:g.33186883A>G	ClinGen:CA10616188	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*2956G>A	10491	CRTAP	Uncertain significance	547128745	RCV000377478;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33186896	33186896	NC_000003.11:g.33186896G>A	ClinGen:CA10615690	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*2968G>A	10491	CRTAP	Uncertain significance	1292526404	RCV001146721;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33186908	33186908	3:g.33186908G>A	-
NM_006371.5(CRTAP):c.*2976C>T	10491	CRTAP	Uncertain significance	886058366	RCV000282999;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33186916	33186916	NC_000003.11:g.33186916C>T	ClinGen:CA10616189	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*3005G>A	10491	CRTAP	Benign	114186675	RCV000342407;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33186945	33186945	NC_000003.11:g.33186945G>A	ClinGen:CA10618494	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*3012G>A	10491	CRTAP	Uncertain significance	576963168	RCV001146722;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33186952	33186952	3:g.33186952G>A	-
NM_006371.5(CRTAP):c.*3061C>G	10491	CRTAP	Uncertain significance	371938944	RCV000378409;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33187001	33187001	NC_000003.11:g.33187001C>G	ClinGen:CA10618142	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*3110G>C	10491	CRTAP	Uncertain significance	2030698620	RCV001147621;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33187050	33187050	3:g.33187050G>C	-
NM_006371.5(CRTAP):c.*3113G>A	10491	CRTAP	Uncertain significance	886058367	RCV000288800;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33187053	33187053	NC_000003.11:g.33187053G>A	ClinGen:CA10616190	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*3124G>A	10491	CRTAP	Uncertain significance	375326992	RCV000343726;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33187064	33187064	NC_000003.11:g.33187064G>A	ClinGen:CA10615691	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*3142G>A	10491	CRTAP	Benign	12635415	RCV000393472;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33187082	33187082	NC_000003.11:g.33187082G>A	ClinGen:CA10618496	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*3145A>G	10491	CRTAP	Benign	74503694	RCV000313095;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33187085	33187085	NC_000003.11:g.33187085A>G	ClinGen:CA10618500	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*3221C>T	10491	CRTAP	Uncertain significance	552901003	RCV000349124;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33187161	33187161	NC_000003.11:g.33187161C>T	ClinGen:CA10618501	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*3224T>C	10491	CRTAP	Uncertain significance	886058368	RCV000393459;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33187164	33187164	NC_000003.11:g.33187164T>C	ClinGen:CA10618148	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*3243A>C	10491	CRTAP	Benign	114378448	RCV000314303;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33187183	33187183	NC_000003.11:g.33187183A>C	ClinGen:CA10618503	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*3332G>T	10491	CRTAP	Uncertain significance	535312612	RCV001150959;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33187272	33187272	3:g.33187272G>T	-
NM_006371.5(CRTAP):c.*3454C>T	10491	CRTAP	Likely benign	140429132	RCV001150960;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33187394	33187394	3:g.33187394C>T	-
NM_006371.5(CRTAP):c.*3464A>C	10491	CRTAP	Benign	144325894	RCV000355068;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33187404	33187404	NC_000003.11:g.33187404A>C	ClinGen:CA10616191	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*3485G>A	10491	CRTAP	Benign	1132392	RCV000260313;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33187425	33187425	NC_000003.11:g.33187425G>A	ClinGen:CA10615694	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*3511G>C	10491	CRTAP	Uncertain significance	886058369	RCV000301500;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33187451	33187451	NC_000003.11:g.33187451G>C	ClinGen:CA10616194	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*3588A>G	10491	CRTAP	Uncertain significance	1336476058	RCV001150961;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33187528	33187528	3:g.33187528A>G	-
NM_006371.5(CRTAP):c.*3710T>C	10491	CRTAP	Uncertain significance	1575522291	RCV001150962;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33187650	33187650	3:g.33187650T>C	-
NM_006371.5(CRTAP):c.*3720C>A	10491	CRTAP	Uncertain significance	62250520	RCV000266255;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33187660	33187660	NC_000003.11:g.33187660C>A	ClinGen:CA10616200	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*3731C>T	10491	CRTAP	Uncertain significance	561959158	RCV000321285;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33187671	33187671	NC_000003.11:g.33187671C>T	ClinGen:CA10618157	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*3788G>A	10491	CRTAP	Uncertain significance	772312868	RCV001144855;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33187728	33187728	3:g.33187728G>A	-
NM_006371.5(CRTAP):c.*3793C>T	10491	CRTAP	Benign	72859105	RCV000380554;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33187733	33187733	3:g.33187733C>T	ClinGen:CA10618159	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*3891C>T	10491	CRTAP	Benign	4678478	RCV000267264;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33187831	33187831	3:g.33187831C>T	ClinGen:CA10615698	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*3891C>A	10491	CRTAP	Uncertain significance	4678478	RCV001144856;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33187831	33187831	3:g.33187831C>A	-
NM_006371.5(CRTAP):c.*3949C>T	10491	CRTAP	Benign	72859106	RCV000327071;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33187889	33187889	3:g.33187889C>T	ClinGen:CA10615699	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*3950G>A	10491	CRTAP	Likely benign	141093723	RCV001144857;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33187890	33187890	3:g.33187890G>A	-
NM_006371.5(CRTAP):c.*3978T>C	10491	CRTAP	Uncertain significance	555292232	RCV001146830;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33187918	33187918	3:g.33187918T>C	-
NM_006371.5(CRTAP):c.*4017G>A	10491	CRTAP	Likely benign	115504052	RCV001146831;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33187957	33187957	3:g.33187957G>A	-
NM_006371.5(CRTAP):c.*4099A>G	10491	CRTAP	Uncertain significance	886058370	RCV000381576;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33188039	33188039	3:g.33188039A>G	ClinGen:CA10616201	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*4124G>T	10491	CRTAP	Uncertain significance	183098032	RCV000291935;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33188064	33188064	3:g.33188064G>T	ClinGen:CA10616204	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*4124G>A	10491	CRTAP	Uncertain significance	183098032	RCV001146832;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33188064	33188064	3:g.33188064G>A	-
NM_006371.5(CRTAP):c.*4129T>C	10491	CRTAP	Likely benign	76450273	RCV000346087;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33188069	33188069	3:g.33188069T>C	ClinGen:CA10618161	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*4190C>T	10491	CRTAP	Uncertain significance	1427913520	RCV001146833;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33188130	33188130	3:g.33188130C>T	-
NM_006371.5(CRTAP):c.*4256A>G	10491	CRTAP	Benign	56401432	RCV000292361;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33188196	33188196	NC_000003.11:g.33188196A>G	ClinGen:CA10616206	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*4422C>G	10491	CRTAP	Uncertain significance	373275402	RCV000351977;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33188362	33188362	NC_000003.11:g.33188362C>G	ClinGen:CA10616208	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*4427A>G	10491	CRTAP	Uncertain significance	2030735903	RCV001147724;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33188367	33188367	3:g.33188367A>G	-
NM_006371.5(CRTAP):c.*4459C>A	10491	CRTAP	Uncertain significance	560001702	RCV000279473;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33188399	33188399	NC_000003.11:g.33188399C>A	ClinGen:CA10618507	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*4568C>T	10491	CRTAP	Uncertain significance	536756882	RCV000334456;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33188508	33188508	NC_000003.11:g.33188508C>T	ClinGen:CA10618163	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*4592T>C	10491	CRTAP	Uncertain significance	2030740279	RCV001147725;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33188532	33188532	3:g.33188532T>C	-
NM_006371.5(CRTAP):c.*4601T>C	10491	CRTAP	Uncertain significance	528767183	RCV000407293;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33188541	33188541	NC_000003.11:g.33188541T>C	ClinGen:CA10618525	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*4623A>C	10491	CRTAP	Benign	75873340	RCV001147726;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33188563	33188563	3:g.33188563A>C	-
NM_006371.5(CRTAP):c.*4647T>A	10491	CRTAP	Uncertain significance	886058373	RCV000299573;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33188587	33188587	NC_000003.11:g.33188587T>A	ClinGen:CA10616209	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*4691T>C	10491	CRTAP	Uncertain significance	775051039	RCV000359074;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33188631	33188631	NC_000003.11:g.33188631T>C	ClinGen:CA10618526	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*4705G>T	10491	CRTAP	Likely benign	145711257	RCV000305461;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33188645	33188645	NC_000003.11:g.33188645G>T	ClinGen:CA10615700	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*4705G>A	10491	CRTAP	Uncertain significance	145711257	RCV000406565;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33188645	33188645	NC_000003.11:g.33188645G>A	ClinGen:CA10616212	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*4774C>T	10491	CRTAP	Benign	11925558	RCV000360280;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33188714	33188714	NC_000003.11:g.33188714C>T	ClinGen:CA10616216	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*4786G>C	10491	CRTAP	Uncertain significance	1019554127	RCV001151068;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33188726	33188726	3:g.33188726G>C	-
NM_006371.5(CRTAP):c.*4809A>G	10491	CRTAP	Uncertain significance	886058375	RCV000325420;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33188749	33188749	NC_000003.11:g.33188749A>G	ClinGen:CA10615701	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*4836T>C	10491	CRTAP	Uncertain significance	568448045	RCV001151069;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33188776	33188776	3:g.33188776T>C	-
NM_006371.5(CRTAP):c.*4844C>T	10491	CRTAP	Uncertain significance	146565729	RCV001151070;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33188784	33188784	3:g.33188784C>T	-
NM_006371.5(CRTAP):c.*4857A>C	10491	CRTAP	Uncertain significance	540853691	RCV000366141;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33188797	33188797	NC_000003.11:g.33188797A>C	ClinGen:CA10616217	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*4940G>C	10491	CRTAP	Uncertain significance	1323498830	RCV001144969;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33188880	33188880	3:g.33188880G>C	-
NM_006371.5(CRTAP):c.*4950A>G	10491	CRTAP	Uncertain significance	780502214	RCV001144970;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33188890	33188890	3:g.33188890A>G	-
NM_006371.5(CRTAP):c.*4994C>T	10491	CRTAP	Uncertain significance	760019010	RCV000275065;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33188934	33188934	3:g.33188934C>T	ClinGen:CA10616218	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*5005G>T	10491	CRTAP	Uncertain significance	532876768	RCV001144971;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33188945	33188945	3:g.33188945G>T	-
NM_006371.5(CRTAP):c.*5048G>A	10491	CRTAP	Uncertain significance	886058376	RCV000330114;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33188988	33188988	NC_000003.11:g.33188988G>A	ClinGen:CA10618529	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*5054A>G	10491	CRTAP	Uncertain significance	886058377	RCV000389297;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33188994	33188994	NC_000003.11:g.33188994A>G	ClinGen:CA10616219	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*5077A>G	10491	CRTAP	Uncertain significance	886058378	RCV000294995;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33189017	33189017	NC_000003.11:g.33189017A>G	ClinGen:CA10615702	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.*5134T>C	10491	CRTAP	Uncertain significance	958340124	RCV001146919;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33189074	33189074	3:g.33189074T>C	-
NM_006371.5(CRTAP):c.*5183C>A	10491	CRTAP	Uncertain significance	1284480065	RCV001146920;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33189123	33189123	3:g.33189123C>A	-
NM_006371.5(CRTAP):c.*5190G>T	10491	CRTAP	Uncertain significance	901408269	RCV001146921;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33189130	33189130	3:g.33189130G>T	-
NM_006371.5(CRTAP):c.*5195C>A	10491	CRTAP	Uncertain significance	534020504	RCV001146922;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33189135	33189135	3:g.33189135C>A	-
NM_006371.5(CRTAP):c.*5223T>A	10491	CRTAP	Uncertain significance	192685869	RCV001146923;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33189163	33189163	3:g.33189163T>A	-
NM_006371.5(CRTAP):c.*5313T>G	10491	CRTAP	Uncertain significance	886058379	RCV000371825;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33189253	33189253	NC_000003.11:g.33189253T>G	ClinGen:CA10618530	CN239451 Osteogenesis Imperfecta, Recessive;
NM_006371.5(CRTAP):c.32T>C (p.Leu11Pro)	-1	CRTAP;LOC129936436	Uncertain significance	1701307738	RCV001802429;	N	MONDO:MONDO:0012536,MedGen:C1853162,OMIM:610682	3	33155601	33155601	33155601	-

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