Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000557.5(GDF5):c.1322T>C (p.Leu441Pro)	SNV Germline	Chr20:35434093	Pathogenic	Acromesomelic dysplasia 2B Type A2 brachydactyly Symphalangism, proximal, 1B Condition: not provided	Criteria Provided Single Submitter	CA119565	rs_28936683	3 SubmittersRCV000008887 RCV000008888 RCV001770033 RCV003555978
NM_000557.5(GDF5):c.1133G>A (p.Arg378Gln)	SNV Germline	Chr20:35434282	Pathogenic	Acromesomelic dysplasia 2B	No Assertion Criteria Provided	CA119579	rs_121909350	1 SubmittersRCV000008901
NM_000557.5(GDF5):c.1306C>A (p.Pro436Thr)	SNV Germline	Chr20:35434109	Pathogenic	Acromesomelic dysplasia 2B	No Assertion Criteria Provided	CA119581	rs_121909351	1 SubmittersRCV000008902
NM_003995.4(NPR2):c.94C>A (p.Pro32Thr)	SNV Germline	Chr9:35792502	Pathogenic	Acromesomelic dysplasia 1, Maroteaux type	No Assertion Criteria Provided	CA250692	rs_28931581	1 SubmittersRCV000019362
NM_003995.4(NPR2):c.343T>G (p.Trp115Gly)	SNV Germline	Chr9:35792751	Pathogenic	Acromesomelic dysplasia 1, Maroteaux type	No Assertion Criteria Provided	CA250693	rs_28931582	1 SubmittersRCV000019363
NM_003995.4(NPR2):c.528T>A (p.Asp176Glu)	SNV Germline	Chr9:35792936	Pathogenic	Acromesomelic dysplasia 1, Maroteaux type	No Assertion Criteria Provided	CA250694	rs_28929479	1 SubmittersRCV000019364
NM_003995.4(NPR2):c.1162C>T (p.Arg388Ter)	SNV Germline	Chr9:35800427	Pathogenic	Acromesomelic dysplasia 1, Maroteaux type Acromesomelic dysplasia 1, Maroteaux type Tall stature-scoliosis-macrodactyly of the great toes syndrome	Criteria Provided Single Submitter	CA250695	rs_121912739	3 SubmittersRCV000019365 RCV001385133
NM_003995.4(NPR2):c.64G>T (p.Ala22Ser)	SNV Germline	Chr9:35792472	Conflicting classifications of pathogenicity	not specified Acromesomelic dysplasia 1, Maroteaux type Tall stature-scoliosis-macrodactyly of the great toes syndrome Short stature with nonspecific skeletal abnormalities Acromesomelic dysplasia 1, Maroteaux type Tall stature-scoliosis-macrodactyly of the great toes syndrome NPR2-related disorder	Criteria Provided Conflicting Classifications	CA200453	rs_140014632	4 SubmittersRCV000173314 RCV000768034 RCV000952311 RCV004539597
NM_003995.4(NPR2):c.988-7C>A	SNV Germline	Chr9:35800015	Conflicting classifications of pathogenicity	Condition: not provided Acromesomelic dysplasia 1, Maroteaux type Tall stature-scoliosis-macrodactyly of the great toes syndrome	Criteria Provided Conflicting Classifications	CA245235	rs_555614149	2 SubmittersRCV000178204 RCV003765098
NM_003995.4(NPR2):c.328C>T (p.Arg110Cys)	SNV Germline	Chr9:35792736	Conflicting classifications of pathogenicity	Short stature with nonspecific skeletal abnormalities Acromesomelic dysplasia 1, Maroteaux type Condition: not provided Acromesomelic dysplasia 1, Maroteaux type Tall stature-scoliosis-macrodactyly of the great toes syndrome	Criteria Provided Conflicting Classifications	CA204432	rs_758478717	4 SubmittersRCV000190431 RCV001263517 RCV001781561 RCV001857670
NM_001203.3(BMPR1B):c.157T>C (p.Cys53Arg)	SNV Germline	Chr4:95114733	Pathogenic	Acromesomelic dysplasia 3	No Assertion Criteria Provided	CA279104	rs_863225041	1 SubmittersRCV000201167
NM_001203.3(BMPR1B):c.657G>A (p.Trp219Ter)	SNV Germline	Chr4:95129933	Pathogenic	Acromesomelic dysplasia 3	No Assertion Criteria Provided	CA279069	rs_863225042	1 SubmittersRCV000201044
NM_001203.3(BMPR1B):c.91C>T (p.Arg31Cys)	SNV Germline	Chr4:95104515	Pathogenic	Acromesomelic dysplasia 3	No Assertion Criteria Provided	CA210074	rs_745854387	1 SubmittersRCV000201128
NM_003995.4(NPR2):c.2327G>A (p.Arg776Gln)	SNV Germline	Chr9:35806188	Conflicting classifications of pathogenicity	Condition: not provided Acromesomelic dysplasia 1, Maroteaux type Tall stature-scoliosis-macrodactyly of the great toes syndrome Acromesomelic dysplasia 1, Maroteaux type	Criteria Provided Conflicting Classifications	CA5051937	rs_780293535	4 SubmittersRCV000328406 RCV001166431 RCV001300728
NM_001203.3(BMPR1B):c.289A>G (p.Thr97Ala)	SNV Germline	Chr4:95115727	Conflicting classifications of pathogenicity	Condition: not provided Type A2 brachydactyly Acromesomelic dysplasia 3 BMPR1B-related disorder	Criteria Provided Conflicting Classifications	CA3014934	rs_759423600	4 SubmittersRCV000304200 RCV002518966 RCV003920095
NM_003995.4(NPR2):c.3087A>C (p.Gly1029=)	SNV Germline	Chr9:35809388	Conflicting classifications of pathogenicity	Condition: not provided Acromesomelic dysplasia 1, Maroteaux type Acromesomelic dysplasia 1, Maroteaux type Tall stature-scoliosis-macrodactyly of the great toes syndrome	Criteria Provided Conflicting Classifications	CA5052218	rs_138254005	3 SubmittersRCV000303783 RCV000298974 RCV001410358
NM_001203.3(BMPR1B):c.762G>T (p.Arg254Ser)	SNV Germline	Chr4:95130038	Conflicting classifications of pathogenicity	Brachydactyly Acromesomelic dysplasia 3 Type A2 brachydactyly Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3015085	rs_200198618	3 SubmittersRCV000384921 RCV001861245 RCV004021974
NM_001203.3(BMPR1B):c.1105A>G (p.Asn369Asp)	SNV Germline	Chr4:95148776	Conflicting classifications of pathogenicity	Brachydactyly Type A2 brachydactyly Acromesomelic dysplasia 3 BMPR1B-related disorder	Criteria Provided Conflicting Classifications	CA3015179	rs_778257341	3 SubmittersRCV000283012 RCV001861246 RCV003418072
NM_001203.3(BMPR1B):c.671G>A (p.Arg224His)	SNV Germline	Chr4:95129947	Conflicting classifications of pathogenicity	Brachydactyly Acromesomelic dysplasia 3 Type A2 brachydactyly Condition: not provided BMPR1B-related disorder	Criteria Provided Conflicting Classifications	CA3015054	rs_35973133	5 SubmittersRCV000386085 RCV001235116 RCV003226923 RCV003950237
NM_003995.4(NPR2):c.1572C>T (p.Tyr524=)	SNV Germline	Chr9:35801940	Conflicting classifications of pathogenicity	Acromesomelic dysplasia 1, Maroteaux type Tall stature-scoliosis-macrodactyly of the great toes syndrome Acromesomelic dysplasia 1, Maroteaux type	Criteria Provided Conflicting Classifications	CA5051734	rs_150393424	2 SubmittersRCV000286069 RCV001503161
NM_003995.4(NPR2):c.2337T>C (p.Phe779=)	SNV Germline	Chr9:35806198	Conflicting classifications of pathogenicity	Acromesomelic dysplasia 1, Maroteaux type Tall stature-scoliosis-macrodactyly of the great toes syndrome Acromesomelic dysplasia 1, Maroteaux type	Criteria Provided Conflicting Classifications	CA5051938	rs_115369552	2 SubmittersRCV000398001 RCV002524599
NM_003995.4(NPR2):c.649A>T (p.Ile217Phe)	SNV Germline	Chr9:35793057	Conflicting classifications of pathogenicity	Acromesomelic dysplasia 1, Maroteaux type Tall stature-scoliosis-macrodactyly of the great toes syndrome Acromesomelic dysplasia 1, Maroteaux type	Criteria Provided Conflicting Classifications	CA5051478	rs_191155989	2 SubmittersRCV000315791 RCV000946345
NM_003995.4(NPR2):c.1644C>T (p.Val548=)	SNV Germline	Chr9:35802217	Conflicting classifications of pathogenicity	Acromesomelic dysplasia 1, Maroteaux type NPR2-related disorder	Criteria Provided Conflicting Classifications	CA5051771	rs_772510686	2 SubmittersRCV000345822 RCV004530487
NM_000557.5(GDF5):c.1104C>T (p.Thr368=)	SNV Germline	Chr20:35434311	Conflicting classifications of pathogenicity	Grebe syndrome Acromesomelic dysplasia 2C, Hunter-Thompson type Multiple synostoses syndrome 2 Acromesomelic dysplasia 2B Brachydactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA9832163	rs_748907807	2 SubmittersRCV000307883 RCV000311454 RCV000369626 RCV000404917 RCV000404610 RCV002523158
NM_000557.5(GDF5):c.855C>T (p.Gly285=)	SNV Germline	Chr20:35434560	Conflicting classifications of pathogenicity	Grebe syndrome Acromesomelic dysplasia 2B Multiple synostoses syndrome 2 Acromesomelic dysplasia 2C, Hunter-Thompson type Brachydactyly not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA9832218	rs_149593773	4 SubmittersRCV000300078 RCV000299052 RCV000357395 RCV000391346 RCV000404947 RCV000607716 RCV000863546
NM_000557.5(GDF5):c.168C>A (p.Asn56Lys)	SNV Germline	Chr20:35437761	Conflicting classifications of pathogenicity	Multiple synostoses syndrome 2 Acromesomelic dysplasia 2B Brachydactyly Grebe syndrome Acromesomelic dysplasia 2C, Hunter-Thompson type Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA9832412	rs_199666386	3 SubmittersRCV000269019 RCV000276931 RCV000307820 RCV000365864 RCV000369568 RCV001865232 RCV002523159
NM_003995.4(NPR2):c.1435C>T (p.Arg479Ter)	SNV Germline	Chr9:35801153	Pathogenic/Likely pathogenic	Acromesomelic dysplasia 1, Maroteaux type Short stature with nonspecific skeletal abnormalities Condition: not provided Tall stature-scoliosis-macrodactyly of the great toes syndrome Acromesomelic dysplasia 1, Maroteaux type	Criteria Provided Multiple Submitters No Conflicts	CA16044039	rs_1057519324	5 SubmittersRCV000416343 RCV001262820 RCV001572044 RCV003766174
NM_003995.4(NPR2):c.560T>A (p.Val187Asp)	SNV Germline	Chr9:35792968	Pathogenic	Acromesomelic dysplasia 1, Maroteaux type	Criteria Provided Single Submitter	CA16044040	rs_1057519335	1 SubmittersRCV000416349
NM_003995.4(NPR2):c.2302T>C (p.Cys768Arg)	SNV Germline	Chr9:35806163	Pathogenic	Acromesomelic dysplasia 1, Maroteaux type	Criteria Provided Single Submitter	CA16044042	rs_1057519333	1 SubmittersRCV000416364
NM_003995.4(NPR2):c.2944G>A (p.Asp982Asn)	SNV Germline	Chr9:35808811	Pathogenic	Acromesomelic dysplasia 1, Maroteaux type	Criteria Provided Single Submitter	CA16044043	rs_1057519336	1 SubmittersRCV000416371
NM_003995.4(NPR2):c.2966G>T (p.Arg989Leu)	SNV Germline	Chr9:35808833	Pathogenic/Likely pathogenic	Condition: not provided Epilepsy, familial focal, with variable foci 2 NPR2-related disorder Acromesomelic dysplasia 1, Maroteaux type Tall stature-scoliosis-macrodactyly of the great toes syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16618861	rs_771373457	5 SubmittersRCV000480765 RCV000985136 RCV002469165 RCV003766658
NM_001148.6(ANK2):c.7951G>C (p.Val2651Leu)	SNV Germline	Chr4:113356569	Conflicting classifications of pathogenicity	Acromesomelic dysplasia 2B Oligosynaptic infertility Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA3051685	rs_777477439	3 SubmittersRCV000585778 RCV002298625 RCV002420262
NM_001203.3(BMPR1B):c.1112G>A (p.Arg371Gln)	SNV Germline	Chr4:95148783	Conflicting classifications of pathogenicity	Type A2 brachydactyly Type A2 brachydactyly Acromesomelic dysplasia 3 BMPR1B-related disorder	Criteria Provided Conflicting Classifications	CA3015183	rs_34970181	3 SubmittersRCV000509388 RCV000685866 RCV003409723
NM_001203.3(BMPR1B):c.640C>A (p.Arg214Ser)	SNV Germline	Chr4:95129916	Pathogenic	Brachydactyly type A1D Type A2 brachydactyly Acromesomelic dysplasia 3 Acromesomelic dysplasia 2B	No Assertion Criteria Provided	CA357681181	rs_1553941890	1 SubmittersRCV000519599
NM_003995.4(NPR2):c.2761C>T (p.Arg921Ter)	SNV Germline	Chr9:35808557	Pathogenic	Condition: not provided Acromesomelic dysplasia 1, Maroteaux type Tall stature-scoliosis-macrodactyly of the great toes syndrome	Criteria Provided Multiple Submitters No Conflicts	CA373384949	rs_1554674642	2 SubmittersRCV000521525 RCV001851496
NM_003995.4(NPR2):c.987+1G>C	SNV Germline	Chr9:35799732	Likely pathogenic	Acromesomelic dysplasia 1, Maroteaux type Tall stature-scoliosis-macrodactyly of the great toes syndrome	Criteria Provided Single Submitter	CA373369547	rs_1554672893	1 SubmittersRCV000526471
NM_003995.4(NPR2):c.697C>T (p.Leu233=)	SNV Germline	Chr9:35793927	Conflicting classifications of pathogenicity	Condition: not provided Acromesomelic dysplasia 1, Maroteaux type Acromesomelic dysplasia 1, Maroteaux type Tall stature-scoliosis-macrodactyly of the great toes syndrome	Criteria Provided Conflicting Classifications	CA5051503	rs_61758518	3 SubmittersRCV000598099 RCV001168606 RCV001493441
NM_003995.4(NPR2):c.90G>A (p.Val30=)	SNV Germline	Chr9:35792498	Conflicting classifications of pathogenicity	Acromesomelic dysplasia 1, Maroteaux type Tall stature-scoliosis-macrodactyly of the great toes syndrome Acromesomelic dysplasia 1, Maroteaux type	Criteria Provided Conflicting Classifications	CA5051402	rs_56036598	2 SubmittersRCV000652337 RCV001166891
NM_003995.4(NPR2):c.2713-2A>T	SNV Germline	Chr9:35808507	Likely pathogenic	Acromesomelic dysplasia 1, Maroteaux type Tall stature-scoliosis-macrodactyly of the great toes syndrome	Criteria Provided Single Submitter		rs_1563993649	1 SubmittersRCV000702502
NM_001203.3(BMPR1B):c.468A>G (p.Arg156=)	SNV Germline	Chr4:95125004	Conflicting classifications of pathogenicity	Condition: not provided Type A2 brachydactyly Acromesomelic dysplasia 3	Criteria Provided Conflicting Classifications		rs_775608689	2 SubmittersRCV000731080 RCV001467970
NM_001203.3(BMPR1B):c.251C>T (p.Thr84Ile)	SNV Germline	Chr4:95115689	Conflicting classifications of pathogenicity	Type A2 brachydactyly Acromesomelic dysplasia 3 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_200083866	2 SubmittersRCV000821954 RCV002535936
NM_001203.3(BMPR1B):c.988C>T (p.His330Tyr)	SNV Germline	Chr4:95131424	Likely pathogenic	Acromesomelic dysplasia 3	Criteria Provided Single Submitter		rs_1177728492	1 SubmittersRCV000850360
NM_003995.4(NPR2):c.298G>A (p.Gly100Ser)	SNV Germline	Chr9:35792706	Likely pathogenic	Acromesomelic dysplasia 1, Maroteaux type	No Assertion Criteria Provided		rs_753644648	1 SubmittersRCV000856598
NM_003995.4(NPR2):c.1351+10T>C	SNV Germline	Chr9:35800851	Conflicting classifications of pathogenicity	Acromesomelic dysplasia 1, Maroteaux type Tall stature-scoliosis-macrodactyly of the great toes syndrome Acromesomelic dysplasia 1, Maroteaux type not specified NPR2-related disorder	Criteria Provided Conflicting Classifications		rs_199798952	4 SubmittersRCV000951775 RCV001169366 RCV003396558 RCV004543578
NM_003995.4(NPR2):c.2966G>A (p.Arg989Gln)	SNV Germline	Chr9:35808833	Pathogenic	Epilepsy, familial focal, with variable foci 2 Acromesomelic dysplasia 1, Maroteaux type	Criteria Provided Single Submitter		rs_771373457	2 SubmittersRCV000985135 RCV001805952
NM_003995.4(NPR2):c.14C>A (p.Ser5Ter)	SNV Germline	Chr9:35792422	Pathogenic	Acromesomelic dysplasia 1, Maroteaux type	No Assertion Criteria Provided		rs_749952755	1 SubmittersRCV001260934
NM_003995.4(NPR2):c.1163G>A (p.Arg388Gln)	SNV Germline	Chr9:35800428	Pathogenic	Acromesomelic dysplasia 1, Maroteaux type Acromesomelic dysplasia 1, Maroteaux type Tall stature-scoliosis-macrodactyly of the great toes syndrome	Criteria Provided Single Submitter		rs_1828106198	2 SubmittersRCV001261879 RCV003769034
NM_003995.4(NPR2):c.2720C>T (p.Thr907Met)	SNV Germline	Chr9:35808516	Pathogenic/Likely pathogenic	Acromesomelic dysplasia 1, Maroteaux type Condition: not provided Acromesomelic dysplasia 1, Maroteaux type Tall stature-scoliosis-macrodactyly of the great toes syndrome Short stature with nonspecific skeletal abnormalities	Criteria Provided Multiple Submitters No Conflicts		rs_1311857509	5 SubmittersRCV001262118 RCV001597245 RCV001385134 RCV002283524
NM_003995.4(NPR2):c.1673T>C (p.Ile558Thr)	SNV Germline	Chr9:35802246	Conflicting classifications of pathogenicity	Acromesomelic dysplasia 1, Maroteaux type Tall stature-scoliosis-macrodactyly of the great toes syndrome Acromesomelic dysplasia 1, Maroteaux type	Criteria Provided Conflicting Classifications		rs_751324720	3 SubmittersRCV001302840 RCV001261881
NM_003995.4(NPR2):c.1887+2T>A	SNV Germline	Chr9:35802805	Pathogenic	Acromesomelic dysplasia 1, Maroteaux type	Criteria Provided Single Submitter		rs_1828226013	1 SubmittersRCV001263189
NM_003995.4(NPR2):c.2143C>T (p.Gln715Ter)	SNV Germline	Chr9:35805925	Pathogenic	Acromesomelic dysplasia 1, Maroteaux type	Criteria Provided Single Submitter		rs_1828356952	1 SubmittersRCV001263532
NM_003995.4(NPR2):c.2870G>A (p.Arg957His)	SNV Germline	Chr9:35808666	Likely pathogenic	Acromesomelic dysplasia 1, Maroteaux type	Criteria Provided Single Submitter		rs_1828565145	1 SubmittersRCV001264759
NM_000557.5(GDF5):c.*259G>C	SNV Germline	Chr20:35433650	Conflicting classifications of pathogenicity	Multiple synostoses syndrome 2 Grebe syndrome Brachydactyly Acromesomelic dysplasia 2B Acromesomelic dysplasia 2C, Hunter-Thompson type	Criteria Provided Conflicting Classifications		rs_150833046	1 SubmittersRCV001137581 RCV001137582 RCV001137583 RCV001137580 RCV001142324
NM_000557.5(GDF5):c.1374C>G (p.Pro458=)	SNV Germline	Chr20:35434041	Conflicting classifications of pathogenicity	Grebe syndrome Brachydactyly Acromesomelic dysplasia 2C, Hunter-Thompson type Multiple synostoses syndrome 2 Acromesomelic dysplasia 2B Condition: not provided	Criteria Provided Conflicting Classifications		rs_776415223	2 SubmittersRCV001139808 RCV001139809 RCV001140582 RCV001140583 RCV001140584 RCV003565468
NM_000557.5(GDF5):c.483G>A (p.Pro161=)	SNV Germline	Chr20:35437446	Conflicting classifications of pathogenicity	Grebe syndrome Brachydactyly Acromesomelic dysplasia 2C, Hunter-Thompson type Acromesomelic dysplasia 2B Multiple synostoses syndrome 2 Condition: not provided	Criteria Provided Conflicting Classifications		rs_752789551	2 SubmittersRCV001140046 RCV001140799 RCV001140800 RCV001140801 RCV001140802 RCV003718358
NM_000557.5(GDF5):c.206C>G (p.Ala69Gly)	SNV Germline	Chr20:35437723	Conflicting classifications of pathogenicity	Acromesomelic dysplasia 2C, Hunter-Thompson type Brachydactyly Grebe syndrome Multiple synostoses syndrome 2 Acromesomelic dysplasia 2B	Criteria Provided Conflicting Classifications		rs_542574339	1 SubmittersRCV001137920 RCV001137922 RCV001137919 RCV001137921 RCV001137923
NM_000557.5(GDF5):c.57G>T (p.Leu19=)	SNV Germline	Chr20:35437872	Conflicting classifications of pathogenicity	Acromesomelic dysplasia 2B Brachydactyly Multiple synostoses syndrome 2 Acromesomelic dysplasia 2C, Hunter-Thompson type Grebe syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_746980493	2 SubmittersRCV001140923 RCV001140924 RCV001140925 RCV001140926 RCV001140922 RCV003688915
NM_000557.5(GDF5):c.-134C>G	SNV Germline	Chr20:35438062	Conflicting classifications of pathogenicity	Brachydactyly Acromesomelic dysplasia 2B Grebe syndrome Multiple synostoses syndrome 2 Acromesomelic dysplasia 2C, Hunter-Thompson type	Criteria Provided Conflicting Classifications		rs_144924248	1 SubmittersRCV001138447 RCV001138449 RCV001138448 RCV001138445 RCV001138446
NM_000557.5(GDF5):c.631+6G>A	SNV Germline	Chr20:35437292	Conflicting classifications of pathogenicity	Grebe syndrome Acromesomelic dysplasia 2C, Hunter-Thompson type Brachydactyly Acromesomelic dysplasia 2B Multiple synostoses syndrome 2	Criteria Provided Conflicting Classifications		rs_768697784	1 SubmittersRCV001137806 RCV001137807 RCV001137808 RCV001137809 RCV001137810
NM_001203.3(BMPR1B):c.11G>A (p.Arg4Gln)	SNV Germline	Chr4:95104435	Conflicting classifications of pathogenicity	Brachydactyly Type A2 brachydactyly Acromesomelic dysplasia 3 Acromesomelic dysplasia 3 Idiopathic pulmonary arterial hypertension Condition: not provided	Criteria Provided Conflicting Classifications		rs_150974461	5 SubmittersRCV001155861 RCV001220771 RCV001334871 RCV001683739 RCV001776122
NM_003995.4(NPR2):c.2460A>C (p.Thr820=)	SNV Germline	Chr9:35806479	Conflicting classifications of pathogenicity	Acromesomelic dysplasia 1, Maroteaux type Acromesomelic dysplasia 1, Maroteaux type Tall stature-scoliosis-macrodactyly of the great toes syndrome	Criteria Provided Conflicting Classifications		rs_754928680	2 SubmittersRCV001166961 RCV001427871
NM_003995.4(NPR2):c.2721G>A (p.Thr907=)	SNV Germline	Chr9:35808517	Conflicting classifications of pathogenicity	Acromesomelic dysplasia 1, Maroteaux type Acromesomelic dysplasia 1, Maroteaux type Tall stature-scoliosis-macrodactyly of the great toes syndrome	Criteria Provided Conflicting Classifications		rs_758549770	2 SubmittersRCV001166965 RCV001464061
NM_003995.4(NPR2):c.1711-9T>G	SNV Germline	Chr9:35802494	Conflicting classifications of pathogenicity	Acromesomelic dysplasia 1, Maroteaux type Acromesomelic dysplasia 1, Maroteaux type Tall stature-scoliosis-macrodactyly of the great toes syndrome	Criteria Provided Conflicting Classifications		rs_777590147	2 SubmittersRCV001169369 RCV003769826
NM_003995.4(NPR2):c.1887+11C>G	SNV Germline	Chr9:35802814	Conflicting classifications of pathogenicity	Acromesomelic dysplasia 1, Maroteaux type Acromesomelic dysplasia 1, Maroteaux type Tall stature-scoliosis-macrodactyly of the great toes syndrome	Criteria Provided Conflicting Classifications		rs_761623564	2 SubmittersRCV001166429 RCV002558628
NM_003995.4(NPR2):c.2519+15C>T	SNV Germline	Chr9:35806553	Conflicting classifications of pathogenicity	Acromesomelic dysplasia 1, Maroteaux type Acromesomelic dysplasia 1, Maroteaux type Tall stature-scoliosis-macrodactyly of the great toes syndrome	Criteria Provided Conflicting Classifications		rs_370934186	2 SubmittersRCV001166963 RCV002068023
NM_003995.4(NPR2):c.1043T>C (p.Leu348Pro)	SNV Germline	Chr9:35800077	Likely pathogenic	Acromesomelic dysplasia 1, Maroteaux type	Criteria Provided Single Submitter		rs_1828089061	1 SubmittersRCV001248807
NM_001203.3(BMPR1B):c.1190T>G (p.Met397Arg)	SNV Germline	Chr4:95148861	Likely pathogenic	Acromesomelic dysplasia 2C, Hunter-Thompson type	No Assertion Criteria Provided		rs_1734835445	1 SubmittersRCV001291418
NM_003995.4(NPR2):c.2299C>T (p.Arg767Ter)	SNV Germline	Chr9:35806160	Pathogenic	Short stature with nonspecific skeletal abnormalities Acromesomelic dysplasia 1, Maroteaux type Acromesomelic dysplasia 1, Maroteaux type Tall stature-scoliosis-macrodactyly of the great toes syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_753472316	3 SubmittersRCV001293708 RCV002241666 RCV003770477
NM_003995.4(NPR2):c.3078+16G>T	SNV Germline	Chr9:35809263	Conflicting classifications of pathogenicity	Acromesomelic dysplasia 1, Maroteaux type Acromesomelic dysplasia 1, Maroteaux type Tall stature-scoliosis-macrodactyly of the great toes syndrome	Criteria Provided Conflicting Classifications		rs_760800240	2 SubmittersRCV001334197 RCV002070180
NM_001203.3(BMPR1B):c.16G>A (p.Ala6Thr)	SNV Germline	Chr4:95104440	Conflicting classifications of pathogenicity	Acromesomelic dysplasia 3 Type A2 brachydactyly Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_143885868	2 SubmittersRCV001347682 RCV002547462
NM_003995.4(NPR2):c.3119G>A (p.Arg1040Gln)	SNV Germline	Chr9:35809420	Conflicting classifications of pathogenicity	Acromesomelic dysplasia 1, Maroteaux type Tall stature-scoliosis-macrodactyly of the great toes syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_146546770	2 SubmittersRCV001337490 RCV004035835
NM_003995.4(NPR2):c.1557+1G>A	SNV Germline	Chr9:35801764	Likely pathogenic	Tall stature-scoliosis-macrodactyly of the great toes syndrome Acromesomelic dysplasia 1, Maroteaux type Tall stature-scoliosis-macrodactyly of the great toes syndrome Acromesomelic dysplasia 1, Maroteaux type Short stature with nonspecific skeletal abnormalities	Criteria Provided Single Submitter		rs_2132081744	2 SubmittersRCV001378048 RCV001535596
NM_001203.3(BMPR1B):c.229T>G (p.Ser77Ala)	SNV Germline	Chr4:95114805	Conflicting classifications of pathogenicity	Type A2 brachydactyly Acromesomelic dysplasia 3 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_200702974	2 SubmittersRCV001467957 RCV004038671
NM_003995.4(NPR2):c.2065C>T (p.Pro689Ser)	SNV Unknown	Chr9:35805847	Likely pathogenic	Acromesomelic dysplasia 1, Maroteaux type	Criteria Provided Single Submitter		rs_2132090317	1 SubmittersRCV001730000
NM_003995.4(NPR2):c.2326C>T (p.Arg776Trp)	SNV Germline	Chr9:35806187	Conflicting classifications of pathogenicity	Acromesomelic dysplasia 1, Maroteaux type Tall stature-scoliosis-macrodactyly of the great toes syndrome Acromesomelic dysplasia 1, Maroteaux type	Criteria Provided Conflicting Classifications		rs_1303913631	2 SubmittersRCV001733607 RCV002032734
NM_006259.3(PRKG2):c.1705C>T (p.Arg569Ter)	SNV Germline	Chr4:81135226	Pathogenic	Acromesomelic dysplasia 4	No Assertion Criteria Provided		rs_1291510415	1 SubmittersRCV001786318
NM_003995.4(NPR2):c.448G>A (p.Gly150Ser)	SNV Germline	Chr9:35792856	Pathogenic	Acromesomelic dysplasia 1, Maroteaux type	Criteria Provided Single Submitter		rs_2132066800	1 SubmittersRCV001806315
NM_003995.4(NPR2):c.2245C>T (p.Arg749Trp)	SNV Germline	Chr9:35806106	Pathogenic/Likely pathogenic	Acromesomelic dysplasia 1, Maroteaux type Acromesomelic dysplasia 1, Maroteaux type Tall stature-scoliosis-macrodactyly of the great toes syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_61758531	2 SubmittersRCV001808015 RCV001885286
NM_003995.4(NPR2):c.1577C>A (p.Ser526Ter)	SNV Germline	Chr9:35801945	Likely pathogenic	Acromesomelic dysplasia 1, Maroteaux type	Criteria Provided Single Submitter		rs_756858649	1 SubmittersRCV001808224
NM_003995.4(NPR2):c.1111C>T (p.Arg371Ter)	SNV Germline	Chr9:35800145	Pathogenic	Acromesomelic dysplasia 1, Maroteaux type	Criteria Provided Single Submitter		rs_1828094222	1 SubmittersRCV001808880
NM_001203.3(BMPR1B):c.892G>A (p.Ala298Thr)	SNV Germline	Chr4:95131328	Conflicting classifications of pathogenicity	Acromesomelic dysplasia 3 Type A2 brachydactyly Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_373000965	2 SubmittersRCV001878395 RCV002548690
NM_003995.4(NPR2):c.1699G>T (p.Glu567Ter)	SNV Germline	Chr9:35802272	Pathogenic	Acromesomelic dysplasia 1, Maroteaux type Tall stature-scoliosis-macrodactyly of the great toes syndrome	Criteria Provided Single Submitter		rs_2132082975	1 SubmittersRCV002037864
NM_003995.4(NPR2):c.613C>T (p.Arg205Ter)	SNV Germline	Chr9:35793021	Pathogenic	Acromesomelic dysplasia 1, Maroteaux type Tall stature-scoliosis-macrodactyly of the great toes syndrome	Criteria Provided Single Submitter		rs_1180840764	1 SubmittersRCV001942099
NM_001203.3(BMPR1B):c.43A>G (p.Lys15Glu)	SNV Germline	Chr4:95104467	Conflicting classifications of pathogenicity	Type A2 brachydactyly Acromesomelic dysplasia 3 Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_1346115955	2 SubmittersRCV002020704 RCV002548202
NM_003995.4(NPR2):c.2869C>T (p.Arg957Cys)	SNV Germline	Chr9:35808665	Likely pathogenic	Acromesomelic dysplasia 1, Maroteaux type Tall stature-scoliosis-macrodactyly of the great toes syndrome	Criteria Provided Single Submitter		rs_370158184	1 SubmittersRCV002026180
NM_003995.4(NPR2):c.2341C>T (p.Gln781Ter)	SNV Germline	Chr9:35806202	Pathogenic	Acromesomelic dysplasia 1, Maroteaux type Tall stature-scoliosis-macrodactyly of the great toes syndrome	Criteria Provided Single Submitter		rs_768852284	1 SubmittersRCV001951316
NM_003995.4(NPR2):c.2221C>T (p.Arg741Ter)	SNV Germline	Chr9:35806082	Pathogenic	Acromesomelic dysplasia 1, Maroteaux type Tall stature-scoliosis-macrodactyly of the great toes syndrome	Criteria Provided Single Submitter		rs_2132090998	1 SubmittersRCV001959140
NM_003995.4(NPR2):c.2845C>T (p.Arg949Ter)	SNV Germline	Chr9:35808641	Pathogenic	Acromesomelic dysplasia 1, Maroteaux type Tall stature-scoliosis-macrodactyly of the great toes syndrome	Criteria Provided Single Submitter		rs_1452208078	1 SubmittersRCV001944334
NM_001203.3(BMPR1B):c.896A>G (p.Lys299Arg)	SNV Germline	Chr4:95131332	Conflicting classifications of pathogenicity	Acromesomelic dysplasia 3 Type A2 brachydactyly Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_773095683	2 SubmittersRCV002192143 RCV003161379
NM_003995.4(NPR2):c.2116G>C (p.Asp706His)	SNV Germline	Chr9:35805898	Likely pathogenic	Acromesomelic dysplasia 1, Maroteaux type	Criteria Provided Single Submitter		rs_2132090468	1 SubmittersRCV002227899
NM_003995.4(NPR2):c.1924C>T (p.His642Tyr)	SNV Germline	Chr9:35805547	Conflicting classifications of pathogenicity	Acromesomelic dysplasia 1, Maroteaux type Acromesomelic dysplasia 1, Maroteaux type Tall stature-scoliosis-macrodactyly of the great toes syndrome NPR2-related disorder	Criteria Provided Conflicting Classifications		rs_2132089495	3 SubmittersRCV002238734 RCV003093929 RCV004533993
NM_003995.4(NPR2):c.277C>A (p.Pro93Thr)	SNV Germline	Chr9:35792685	Likely pathogenic	Acromesomelic dysplasia 1, Maroteaux type	Criteria Provided Single Submitter		rs_773934765	1 SubmittersRCV002264895
NM_003995.4(NPR2):c.1087C>T (p.Arg363Ter)	SNV Germline	Chr9:35800121	Pathogenic	Acromesomelic dysplasia 1, Maroteaux type Acromesomelic dysplasia 1, Maroteaux type Tall stature-scoliosis-macrodactyly of the great toes syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_767258629	2 SubmittersRCV002264896 RCV003774832
NM_003995.4(NPR2):c.2965C>T (p.Arg989Ter)	SNV Germline	Chr9:35808832	Pathogenic	Tall stature-scoliosis-macrodactyly of the great toes syndrome Acromesomelic dysplasia 1, Maroteaux type	Criteria Provided Single Submitter			1 SubmittersRCV002615434
NM_003995.4(NPR2):c.1257G>A (p.Trp419Ter)	SNV Germline	Chr9:35800747	Pathogenic	Acromesomelic dysplasia 1, Maroteaux type Tall stature-scoliosis-macrodactyly of the great toes syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002612397
NM_003995.4(NPR2):c.1511C>G (p.Ser504Ter)	SNV Germline	Chr9:35801717	Pathogenic	Acromesomelic dysplasia 1, Maroteaux type Tall stature-scoliosis-macrodactyly of the great toes syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002885024
NM_003995.4(NPR2):c.721C>T (p.Gln241Ter)	SNV Germline	Chr9:35793951	Pathogenic	Acromesomelic dysplasia 1, Maroteaux type Tall stature-scoliosis-macrodactyly of the great toes syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002880521
NM_003995.4(NPR2):c.2520-3T>C	SNV Germline	Chr9:35807020	Conflicting classifications of pathogenicity	Acromesomelic dysplasia 1, Maroteaux type Tall stature-scoliosis-macrodactyly of the great toes syndrome NPR2-related disorder	Criteria Provided Conflicting Classifications			2 SubmittersRCV002971320 RCV004536490
NM_003995.4(NPR2):c.2424T>G (p.Tyr808Ter)	SNV Germline	Chr9:35806443	Pathogenic	Acromesomelic dysplasia 1, Maroteaux type Tall stature-scoliosis-macrodactyly of the great toes syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003016365
NM_006259.3(PRKG2):c.1409T>G (p.Val470Gly)	SNV Germline	Chr4:81140668	Likely pathogenic	Acromesomelic dysplasia 4	Criteria Provided Single Submitter			1 SubmittersRCV003228231
NM_006259.3(PRKG2):c.1154+1G>A	SNV Germline	Chr4:81148883	Pathogenic	Acromesomelic dysplasia 4	Criteria Provided Single Submitter		rs_995285513	1 SubmittersRCV003228694
NM_003995.4(NPR2):c.1218+4A>G	SNV Germline	Chr9:35800487	Conflicting classifications of pathogenicity	Short stature with nonspecific skeletal abnormalities Acromesomelic dysplasia 1, Maroteaux type	Criteria Provided Conflicting Classifications			2 SubmittersRCV003322689 RCV003328129
NM_001203.3(BMPR1B):c.585+1G>C	SNV Germline	Chr4:95125122	Likely pathogenic	Acromesomelic dysplasia 3 Type A2 brachydactyly	Criteria Provided Single Submitter			1 SubmittersRCV003782784
NM_003995.4(NPR2):c.844C>T (p.Gln282Ter)	SNV Germline	Chr9:35794074	Pathogenic	Acromesomelic dysplasia 1, Maroteaux type Tall stature-scoliosis-macrodactyly of the great toes syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003781100
NM_003995.4(NPR2):c.1801C>A (p.Arg601Ser)	SNV Germline	Chr9:35802593	Pathogenic	Acromesomelic dysplasia 1, Maroteaux type Tall stature-scoliosis-macrodactyly of the great toes syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003781102
NM_003995.4(NPR2):c.1123+1G>C	SNV Germline	Chr9:35800158	Likely pathogenic	Tall stature-scoliosis-macrodactyly of the great toes syndrome Acromesomelic dysplasia 1, Maroteaux type	Criteria Provided Single Submitter			1 SubmittersRCV003792529

NM_000557.5(GDF5):c.1322T>C (p.Leu441Pro)

SNV
Germline

Chr20:35434093

Pathogenic

Acromesomelic dysplasia 2B
Type A2 brachydactyly
Symphalangism, proximal, 1B
Condition: not provided

Criteria Provided
Single Submitter

CA119565

rs_28936683

3 SubmittersRCV000008887 RCV000008888 RCV001770033 RCV003555978

NM_000557.5(GDF5):c.1133G>A (p.Arg378Gln)

SNV
Germline

Chr20:35434282

Pathogenic

Acromesomelic dysplasia 2B

No Assertion Criteria Provided

CA119579

rs_121909350

1 SubmittersRCV000008901

NM_000557.5(GDF5):c.1306C>A (p.Pro436Thr)

SNV
Germline

Chr20:35434109

Pathogenic

Acromesomelic dysplasia 2B

No Assertion Criteria Provided

CA119581

rs_121909351

1 SubmittersRCV000008902

NM_003995.4(NPR2):c.94C>A (p.Pro32Thr)

SNV
Germline

Chr9:35792502

Pathogenic

Acromesomelic dysplasia 1, Maroteaux type

No Assertion Criteria Provided

CA250692

rs_28931581

1 SubmittersRCV000019362

NM_003995.4(NPR2):c.343T>G (p.Trp115Gly)

SNV
Germline

Chr9:35792751

Pathogenic

Acromesomelic dysplasia 1, Maroteaux type

No Assertion Criteria Provided

CA250693

rs_28931582

1 SubmittersRCV000019363

NM_003995.4(NPR2):c.528T>A (p.Asp176Glu)

SNV
Germline

Chr9:35792936

Pathogenic

Acromesomelic dysplasia 1, Maroteaux type

No Assertion Criteria Provided

CA250694

rs_28929479

1 SubmittersRCV000019364

NM_003995.4(NPR2):c.1162C>T (p.Arg388Ter)

SNV
Germline

Chr9:35800427

Pathogenic

Acromesomelic dysplasia 1, Maroteaux type
Acromesomelic dysplasia 1, Maroteaux type
Tall stature-scoliosis-macrodactyly of the great toes syndrome

Criteria Provided
Single Submitter

CA250695

rs_121912739

3 SubmittersRCV000019365 RCV001385133

NM_003995.4(NPR2):c.64G>T (p.Ala22Ser)

SNV
Germline

Chr9:35792472

Conflicting classifications of pathogenicity

not specified
Acromesomelic dysplasia 1, Maroteaux type
Tall stature-scoliosis-macrodactyly of the great toes syndrome
Short stature with nonspecific skeletal abnormalities
Acromesomelic dysplasia 1, Maroteaux type
Tall stature-scoliosis-macrodactyly of the great toes syndrome
NPR2-related disorder

Criteria Provided
Conflicting Classifications

CA200453

rs_140014632

4 SubmittersRCV000173314 RCV000768034 RCV000952311 RCV004539597

NM_003995.4(NPR2):c.988-7C>A

SNV
Germline

Chr9:35800015

Conflicting classifications of pathogenicity

Condition: not provided
Acromesomelic dysplasia 1, Maroteaux type
Tall stature-scoliosis-macrodactyly of the great toes syndrome

Criteria Provided
Conflicting Classifications

CA245235

rs_555614149

2 SubmittersRCV000178204 RCV003765098

NM_003995.4(NPR2):c.328C>T (p.Arg110Cys)

SNV
Germline

Chr9:35792736

Conflicting classifications of pathogenicity

Short stature with nonspecific skeletal abnormalities
Acromesomelic dysplasia 1, Maroteaux type
Condition: not provided
Acromesomelic dysplasia 1, Maroteaux type
Tall stature-scoliosis-macrodactyly of the great toes syndrome

Criteria Provided
Conflicting Classifications

CA204432

rs_758478717

4 SubmittersRCV000190431 RCV001263517 RCV001781561 RCV001857670

NM_001203.3(BMPR1B):c.157T>C (p.Cys53Arg)

SNV
Germline

Chr4:95114733

Pathogenic

Acromesomelic dysplasia 3

No Assertion Criteria Provided

CA279104

rs_863225041

1 SubmittersRCV000201167

NM_001203.3(BMPR1B):c.657G>A (p.Trp219Ter)

SNV
Germline

Chr4:95129933

Pathogenic

Acromesomelic dysplasia 3

No Assertion Criteria Provided

CA279069

rs_863225042

1 SubmittersRCV000201044

NM_001203.3(BMPR1B):c.91C>T (p.Arg31Cys)

SNV
Germline

Chr4:95104515

Pathogenic

Acromesomelic dysplasia 3

No Assertion Criteria Provided

CA210074

rs_745854387

1 SubmittersRCV000201128

NM_003995.4(NPR2):c.2327G>A (p.Arg776Gln)

SNV
Germline

Chr9:35806188

Conflicting classifications of pathogenicity

Condition: not provided
Acromesomelic dysplasia 1, Maroteaux type
Tall stature-scoliosis-macrodactyly of the great toes syndrome
Acromesomelic dysplasia 1, Maroteaux type

Criteria Provided
Conflicting Classifications

CA5051937

rs_780293535

4 SubmittersRCV000328406 RCV001166431 RCV001300728

NM_001203.3(BMPR1B):c.289A>G (p.Thr97Ala)

SNV
Germline

Chr4:95115727

Conflicting classifications of pathogenicity

Condition: not provided
Type A2 brachydactyly
Acromesomelic dysplasia 3
BMPR1B-related disorder

Criteria Provided
Conflicting Classifications

CA3014934

rs_759423600

4 SubmittersRCV000304200 RCV002518966 RCV003920095

NM_003995.4(NPR2):c.3087A>C (p.Gly1029=)

SNV
Germline

Chr9:35809388

Conflicting classifications of pathogenicity

Condition: not provided
Acromesomelic dysplasia 1, Maroteaux type
Acromesomelic dysplasia 1, Maroteaux type
Tall stature-scoliosis-macrodactyly of the great toes syndrome

Criteria Provided
Conflicting Classifications

CA5052218

rs_138254005

3 SubmittersRCV000303783 RCV000298974 RCV001410358

NM_001203.3(BMPR1B):c.762G>T (p.Arg254Ser)

SNV
Germline

Chr4:95130038

Conflicting classifications of pathogenicity

Brachydactyly
Acromesomelic dysplasia 3
Type A2 brachydactyly
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3015085

rs_200198618

3 SubmittersRCV000384921 RCV001861245 RCV004021974

NM_001203.3(BMPR1B):c.1105A>G (p.Asn369Asp)

SNV
Germline

Chr4:95148776

Conflicting classifications of pathogenicity

Brachydactyly
Type A2 brachydactyly
Acromesomelic dysplasia 3
BMPR1B-related disorder

Criteria Provided
Conflicting Classifications

CA3015179

rs_778257341

3 SubmittersRCV000283012 RCV001861246 RCV003418072

NM_001203.3(BMPR1B):c.671G>A (p.Arg224His)

SNV
Germline

Chr4:95129947

Conflicting classifications of pathogenicity

Brachydactyly
Acromesomelic dysplasia 3
Type A2 brachydactyly
Condition: not provided
BMPR1B-related disorder

Criteria Provided
Conflicting Classifications

CA3015054

rs_35973133

5 SubmittersRCV000386085 RCV001235116 RCV003226923 RCV003950237

NM_003995.4(NPR2):c.1572C>T (p.Tyr524=)

SNV
Germline

Chr9:35801940

Conflicting classifications of pathogenicity

Acromesomelic dysplasia 1, Maroteaux type
Tall stature-scoliosis-macrodactyly of the great toes syndrome
Acromesomelic dysplasia 1, Maroteaux type

Criteria Provided
Conflicting Classifications

CA5051734

rs_150393424

2 SubmittersRCV000286069 RCV001503161

NM_003995.4(NPR2):c.2337T>C (p.Phe779=)

SNV
Germline

Chr9:35806198

Conflicting classifications of pathogenicity

Acromesomelic dysplasia 1, Maroteaux type
Tall stature-scoliosis-macrodactyly of the great toes syndrome
Acromesomelic dysplasia 1, Maroteaux type

Criteria Provided
Conflicting Classifications

CA5051938

rs_115369552

2 SubmittersRCV000398001 RCV002524599

NM_003995.4(NPR2):c.649A>T (p.Ile217Phe)

SNV
Germline

Chr9:35793057

Conflicting classifications of pathogenicity

Acromesomelic dysplasia 1, Maroteaux type
Tall stature-scoliosis-macrodactyly of the great toes syndrome
Acromesomelic dysplasia 1, Maroteaux type

Criteria Provided
Conflicting Classifications

CA5051478

rs_191155989

2 SubmittersRCV000315791 RCV000946345

NM_003995.4(NPR2):c.1644C>T (p.Val548=)

SNV
Germline

Chr9:35802217

Conflicting classifications of pathogenicity

Acromesomelic dysplasia 1, Maroteaux type
NPR2-related disorder

Criteria Provided
Conflicting Classifications

CA5051771

rs_772510686

2 SubmittersRCV000345822 RCV004530487

NM_000557.5(GDF5):c.1104C>T (p.Thr368=)

SNV
Germline

Chr20:35434311

Conflicting classifications of pathogenicity

Grebe syndrome
Acromesomelic dysplasia 2C, Hunter-Thompson type
Multiple synostoses syndrome 2
Acromesomelic dysplasia 2B
Brachydactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9832163

rs_748907807

2 SubmittersRCV000307883 RCV000311454 RCV000369626 RCV000404917 RCV000404610 RCV002523158

NM_000557.5(GDF5):c.855C>T (p.Gly285=)

SNV
Germline

Chr20:35434560

Conflicting classifications of pathogenicity

Grebe syndrome
Acromesomelic dysplasia 2B
Multiple synostoses syndrome 2
Acromesomelic dysplasia 2C, Hunter-Thompson type
Brachydactyly
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9832218

rs_149593773

4 SubmittersRCV000300078 RCV000299052 RCV000357395 RCV000391346 RCV000404947 RCV000607716 RCV000863546

NM_000557.5(GDF5):c.168C>A (p.Asn56Lys)

SNV
Germline

Chr20:35437761

Conflicting classifications of pathogenicity

Multiple synostoses syndrome 2
Acromesomelic dysplasia 2B
Brachydactyly
Grebe syndrome
Acromesomelic dysplasia 2C, Hunter-Thompson type
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA9832412

rs_199666386

3 SubmittersRCV000269019 RCV000276931 RCV000307820 RCV000365864 RCV000369568 RCV001865232 RCV002523159

NM_003995.4(NPR2):c.1435C>T (p.Arg479Ter)

SNV
Germline

Chr9:35801153

Pathogenic/Likely pathogenic

Acromesomelic dysplasia 1, Maroteaux type
Short stature with nonspecific skeletal abnormalities
Condition: not provided
Tall stature-scoliosis-macrodactyly of the great toes syndrome
Acromesomelic dysplasia 1, Maroteaux type

Criteria Provided
Multiple Submitters
No Conflicts

CA16044039

rs_1057519324

5 SubmittersRCV000416343 RCV001262820 RCV001572044 RCV003766174

NM_003995.4(NPR2):c.560T>A (p.Val187Asp)

SNV
Germline

Chr9:35792968

Pathogenic

Acromesomelic dysplasia 1, Maroteaux type

Criteria Provided
Single Submitter

CA16044040

rs_1057519335

1 SubmittersRCV000416349

NM_003995.4(NPR2):c.2302T>C (p.Cys768Arg)

SNV
Germline

Chr9:35806163

Pathogenic

Acromesomelic dysplasia 1, Maroteaux type

Criteria Provided
Single Submitter

CA16044042

rs_1057519333

1 SubmittersRCV000416364

NM_003995.4(NPR2):c.2944G>A (p.Asp982Asn)

SNV
Germline

Chr9:35808811

Pathogenic

Acromesomelic dysplasia 1, Maroteaux type

Criteria Provided
Single Submitter

CA16044043

rs_1057519336

1 SubmittersRCV000416371

NM_003995.4(NPR2):c.2966G>T (p.Arg989Leu)

SNV
Germline

Chr9:35808833

Pathogenic/Likely pathogenic

Condition: not provided
Epilepsy, familial focal, with variable foci 2
NPR2-related disorder
Acromesomelic dysplasia 1, Maroteaux type
Tall stature-scoliosis-macrodactyly of the great toes syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16618861

rs_771373457

5 SubmittersRCV000480765 RCV000985136 RCV002469165 RCV003766658

NM_001148.6(ANK2):c.7951G>C (p.Val2651Leu)

SNV
Germline

Chr4:113356569

Conflicting classifications of pathogenicity

Acromesomelic dysplasia 2B
Oligosynaptic infertility
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA3051685

rs_777477439

3 SubmittersRCV000585778 RCV002298625 RCV002420262

NM_001203.3(BMPR1B):c.1112G>A (p.Arg371Gln)

SNV
Germline

Chr4:95148783

Conflicting classifications of pathogenicity

Type A2 brachydactyly
Type A2 brachydactyly
Acromesomelic dysplasia 3
BMPR1B-related disorder

Criteria Provided
Conflicting Classifications

CA3015183

rs_34970181

3 SubmittersRCV000509388 RCV000685866 RCV003409723

NM_001203.3(BMPR1B):c.640C>A (p.Arg214Ser)

SNV
Germline

Chr4:95129916

Pathogenic

Brachydactyly type A1D
Type A2 brachydactyly
Acromesomelic dysplasia 3
Acromesomelic dysplasia 2B

No Assertion Criteria Provided

CA357681181

rs_1553941890

1 SubmittersRCV000519599

NM_003995.4(NPR2):c.2761C>T (p.Arg921Ter)

SNV
Germline

Chr9:35808557

Pathogenic

Condition: not provided
Acromesomelic dysplasia 1, Maroteaux type
Tall stature-scoliosis-macrodactyly of the great toes syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA373384949

rs_1554674642

2 SubmittersRCV000521525 RCV001851496

NM_003995.4(NPR2):c.987+1G>C

SNV
Germline

Chr9:35799732

Likely pathogenic

Acromesomelic dysplasia 1, Maroteaux type
Tall stature-scoliosis-macrodactyly of the great toes syndrome

Criteria Provided
Single Submitter

CA373369547

rs_1554672893

1 SubmittersRCV000526471

NM_003995.4(NPR2):c.697C>T (p.Leu233=)

SNV
Germline

Chr9:35793927

Conflicting classifications of pathogenicity

Condition: not provided
Acromesomelic dysplasia 1, Maroteaux type
Acromesomelic dysplasia 1, Maroteaux type
Tall stature-scoliosis-macrodactyly of the great toes syndrome

Criteria Provided
Conflicting Classifications

CA5051503

rs_61758518

3 SubmittersRCV000598099 RCV001168606 RCV001493441

NM_003995.4(NPR2):c.90G>A (p.Val30=)

SNV
Germline

Chr9:35792498

Conflicting classifications of pathogenicity

Acromesomelic dysplasia 1, Maroteaux type
Tall stature-scoliosis-macrodactyly of the great toes syndrome
Acromesomelic dysplasia 1, Maroteaux type

Criteria Provided
Conflicting Classifications

CA5051402

rs_56036598

2 SubmittersRCV000652337 RCV001166891

NM_003995.4(NPR2):c.2713-2A>T

SNV
Germline

Chr9:35808507

Likely pathogenic

Acromesomelic dysplasia 1, Maroteaux type
Tall stature-scoliosis-macrodactyly of the great toes syndrome

Criteria Provided
Single Submitter

rs_1563993649

1 SubmittersRCV000702502

NM_001203.3(BMPR1B):c.468A>G (p.Arg156=)

SNV
Germline

Chr4:95125004

Conflicting classifications of pathogenicity

Condition: not provided
Type A2 brachydactyly
Acromesomelic dysplasia 3

Criteria Provided
Conflicting Classifications

rs_775608689

2 SubmittersRCV000731080 RCV001467970

NM_001203.3(BMPR1B):c.251C>T (p.Thr84Ile)

SNV
Germline

Chr4:95115689

Conflicting classifications of pathogenicity

Type A2 brachydactyly
Acromesomelic dysplasia 3
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_200083866

2 SubmittersRCV000821954 RCV002535936

NM_001203.3(BMPR1B):c.988C>T (p.His330Tyr)

SNV
Germline

Chr4:95131424

Likely pathogenic

Acromesomelic dysplasia 3

Criteria Provided
Single Submitter

rs_1177728492

1 SubmittersRCV000850360

NM_003995.4(NPR2):c.298G>A (p.Gly100Ser)

SNV
Germline

Chr9:35792706

Likely pathogenic

Acromesomelic dysplasia 1, Maroteaux type

No Assertion Criteria Provided

rs_753644648

1 SubmittersRCV000856598

NM_003995.4(NPR2):c.1351+10T>C

SNV
Germline

Chr9:35800851

Conflicting classifications of pathogenicity

Acromesomelic dysplasia 1, Maroteaux type
Tall stature-scoliosis-macrodactyly of the great toes syndrome
Acromesomelic dysplasia 1, Maroteaux type
not specified
NPR2-related disorder

Criteria Provided
Conflicting Classifications

rs_199798952

4 SubmittersRCV000951775 RCV001169366 RCV003396558 RCV004543578

NM_003995.4(NPR2):c.2966G>A (p.Arg989Gln)

SNV
Germline

Chr9:35808833

Pathogenic

Epilepsy, familial focal, with variable foci 2
Acromesomelic dysplasia 1, Maroteaux type

Criteria Provided
Single Submitter

rs_771373457

2 SubmittersRCV000985135 RCV001805952

NM_003995.4(NPR2):c.14C>A (p.Ser5Ter)

SNV
Germline

Chr9:35792422

Pathogenic

Acromesomelic dysplasia 1, Maroteaux type

No Assertion Criteria Provided

rs_749952755

1 SubmittersRCV001260934

NM_003995.4(NPR2):c.1163G>A (p.Arg388Gln)

SNV
Germline

Chr9:35800428

Pathogenic

Acromesomelic dysplasia 1, Maroteaux type
Acromesomelic dysplasia 1, Maroteaux type
Tall stature-scoliosis-macrodactyly of the great toes syndrome

Criteria Provided
Single Submitter

rs_1828106198

2 SubmittersRCV001261879 RCV003769034

NM_003995.4(NPR2):c.2720C>T (p.Thr907Met)

SNV
Germline

Chr9:35808516

Pathogenic/Likely pathogenic

Acromesomelic dysplasia 1, Maroteaux type
Condition: not provided
Acromesomelic dysplasia 1, Maroteaux type
Tall stature-scoliosis-macrodactyly of the great toes syndrome
Short stature with nonspecific skeletal abnormalities

Criteria Provided
Multiple Submitters
No Conflicts

rs_1311857509

5 SubmittersRCV001262118 RCV001597245 RCV001385134 RCV002283524

NM_003995.4(NPR2):c.1673T>C (p.Ile558Thr)

SNV
Germline

Chr9:35802246

Conflicting classifications of pathogenicity

Acromesomelic dysplasia 1, Maroteaux type
Tall stature-scoliosis-macrodactyly of the great toes syndrome
Acromesomelic dysplasia 1, Maroteaux type

Criteria Provided
Conflicting Classifications

rs_751324720

3 SubmittersRCV001302840 RCV001261881

NM_003995.4(NPR2):c.1887+2T>A

SNV
Germline

Chr9:35802805

Pathogenic

Acromesomelic dysplasia 1, Maroteaux type

Criteria Provided
Single Submitter

rs_1828226013

1 SubmittersRCV001263189

NM_003995.4(NPR2):c.2143C>T (p.Gln715Ter)

SNV
Germline

Chr9:35805925

Pathogenic

Acromesomelic dysplasia 1, Maroteaux type

Criteria Provided
Single Submitter

rs_1828356952

1 SubmittersRCV001263532

NM_003995.4(NPR2):c.2870G>A (p.Arg957His)

SNV
Germline

Chr9:35808666

Likely pathogenic

Acromesomelic dysplasia 1, Maroteaux type

Criteria Provided
Single Submitter

rs_1828565145

1 SubmittersRCV001264759

NM_000557.5(GDF5):c.*259G>C

SNV
Germline

Chr20:35433650

Conflicting classifications of pathogenicity

Multiple synostoses syndrome 2
Grebe syndrome
Brachydactyly
Acromesomelic dysplasia 2B
Acromesomelic dysplasia 2C, Hunter-Thompson type

Criteria Provided
Conflicting Classifications

rs_150833046

1 SubmittersRCV001137581 RCV001137582 RCV001137583 RCV001137580 RCV001142324

NM_000557.5(GDF5):c.1374C>G (p.Pro458=)

SNV
Germline

Chr20:35434041

Conflicting classifications of pathogenicity

Grebe syndrome
Brachydactyly
Acromesomelic dysplasia 2C, Hunter-Thompson type
Multiple synostoses syndrome 2
Acromesomelic dysplasia 2B
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_776415223

2 SubmittersRCV001139808 RCV001139809 RCV001140582 RCV001140583 RCV001140584 RCV003565468

NM_000557.5(GDF5):c.483G>A (p.Pro161=)

SNV
Germline

Chr20:35437446

Conflicting classifications of pathogenicity

Grebe syndrome
Brachydactyly
Acromesomelic dysplasia 2C, Hunter-Thompson type
Acromesomelic dysplasia 2B
Multiple synostoses syndrome 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_752789551

2 SubmittersRCV001140046 RCV001140799 RCV001140800 RCV001140801 RCV001140802 RCV003718358

NM_000557.5(GDF5):c.206C>G (p.Ala69Gly)

SNV
Germline

Chr20:35437723

Conflicting classifications of pathogenicity

Acromesomelic dysplasia 2C, Hunter-Thompson type
Brachydactyly
Grebe syndrome
Multiple synostoses syndrome 2
Acromesomelic dysplasia 2B

Criteria Provided
Conflicting Classifications

rs_542574339

1 SubmittersRCV001137920 RCV001137922 RCV001137919 RCV001137921 RCV001137923

NM_000557.5(GDF5):c.57G>T (p.Leu19=)

SNV
Germline

Chr20:35437872

Conflicting classifications of pathogenicity

Acromesomelic dysplasia 2B
Brachydactyly
Multiple synostoses syndrome 2
Acromesomelic dysplasia 2C, Hunter-Thompson type
Grebe syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_746980493

2 SubmittersRCV001140923 RCV001140924 RCV001140925 RCV001140926 RCV001140922 RCV003688915

NM_000557.5(GDF5):c.-134C>G

SNV
Germline

Chr20:35438062

Conflicting classifications of pathogenicity

Brachydactyly
Acromesomelic dysplasia 2B
Grebe syndrome
Multiple synostoses syndrome 2
Acromesomelic dysplasia 2C, Hunter-Thompson type

Criteria Provided
Conflicting Classifications

rs_144924248

1 SubmittersRCV001138447 RCV001138449 RCV001138448 RCV001138445 RCV001138446

NM_000557.5(GDF5):c.631+6G>A

SNV
Germline

Chr20:35437292

Conflicting classifications of pathogenicity

Grebe syndrome
Acromesomelic dysplasia 2C, Hunter-Thompson type
Brachydactyly
Acromesomelic dysplasia 2B
Multiple synostoses syndrome 2

Criteria Provided
Conflicting Classifications

rs_768697784

1 SubmittersRCV001137806 RCV001137807 RCV001137808 RCV001137809 RCV001137810

NM_001203.3(BMPR1B):c.11G>A (p.Arg4Gln)

SNV
Germline

Chr4:95104435

Conflicting classifications of pathogenicity

Brachydactyly
Type A2 brachydactyly
Acromesomelic dysplasia 3
Acromesomelic dysplasia 3
Idiopathic pulmonary arterial hypertension
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_150974461

5 SubmittersRCV001155861 RCV001220771 RCV001334871 RCV001683739 RCV001776122

NM_003995.4(NPR2):c.2460A>C (p.Thr820=)

SNV
Germline

Chr9:35806479

Conflicting classifications of pathogenicity

Acromesomelic dysplasia 1, Maroteaux type
Acromesomelic dysplasia 1, Maroteaux type
Tall stature-scoliosis-macrodactyly of the great toes syndrome

Criteria Provided
Conflicting Classifications

rs_754928680

2 SubmittersRCV001166961 RCV001427871

NM_003995.4(NPR2):c.2721G>A (p.Thr907=)

SNV
Germline

Chr9:35808517

Conflicting classifications of pathogenicity

Acromesomelic dysplasia 1, Maroteaux type
Acromesomelic dysplasia 1, Maroteaux type
Tall stature-scoliosis-macrodactyly of the great toes syndrome

Criteria Provided
Conflicting Classifications

rs_758549770

2 SubmittersRCV001166965 RCV001464061

NM_003995.4(NPR2):c.1711-9T>G

SNV
Germline

Chr9:35802494

Conflicting classifications of pathogenicity

Acromesomelic dysplasia 1, Maroteaux type
Acromesomelic dysplasia 1, Maroteaux type
Tall stature-scoliosis-macrodactyly of the great toes syndrome

Criteria Provided
Conflicting Classifications

rs_777590147

2 SubmittersRCV001169369 RCV003769826

NM_003995.4(NPR2):c.1887+11C>G

SNV
Germline

Chr9:35802814

Conflicting classifications of pathogenicity

Acromesomelic dysplasia 1, Maroteaux type
Acromesomelic dysplasia 1, Maroteaux type
Tall stature-scoliosis-macrodactyly of the great toes syndrome

Criteria Provided
Conflicting Classifications

rs_761623564

2 SubmittersRCV001166429 RCV002558628

NM_003995.4(NPR2):c.2519+15C>T

SNV
Germline

Chr9:35806553

Conflicting classifications of pathogenicity

Acromesomelic dysplasia 1, Maroteaux type
Acromesomelic dysplasia 1, Maroteaux type
Tall stature-scoliosis-macrodactyly of the great toes syndrome

Criteria Provided
Conflicting Classifications

rs_370934186

2 SubmittersRCV001166963 RCV002068023

NM_003995.4(NPR2):c.1043T>C (p.Leu348Pro)

SNV
Germline

Chr9:35800077

Likely pathogenic

Acromesomelic dysplasia 1, Maroteaux type

Criteria Provided
Single Submitter

rs_1828089061

1 SubmittersRCV001248807

NM_001203.3(BMPR1B):c.1190T>G (p.Met397Arg)

SNV
Germline

Chr4:95148861

Likely pathogenic

Acromesomelic dysplasia 2C, Hunter-Thompson type

No Assertion Criteria Provided

rs_1734835445

1 SubmittersRCV001291418

NM_003995.4(NPR2):c.2299C>T (p.Arg767Ter)

SNV
Germline

Chr9:35806160

Pathogenic

Short stature with nonspecific skeletal abnormalities
Acromesomelic dysplasia 1, Maroteaux type
Acromesomelic dysplasia 1, Maroteaux type
Tall stature-scoliosis-macrodactyly of the great toes syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_753472316

3 SubmittersRCV001293708 RCV002241666 RCV003770477

NM_003995.4(NPR2):c.3078+16G>T

SNV
Germline

Chr9:35809263

Conflicting classifications of pathogenicity

Acromesomelic dysplasia 1, Maroteaux type
Acromesomelic dysplasia 1, Maroteaux type
Tall stature-scoliosis-macrodactyly of the great toes syndrome

Criteria Provided
Conflicting Classifications

rs_760800240

2 SubmittersRCV001334197 RCV002070180

NM_001203.3(BMPR1B):c.16G>A (p.Ala6Thr)

SNV
Germline

Chr4:95104440

Conflicting classifications of pathogenicity

Acromesomelic dysplasia 3
Type A2 brachydactyly
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_143885868

2 SubmittersRCV001347682 RCV002547462

NM_003995.4(NPR2):c.3119G>A (p.Arg1040Gln)

SNV
Germline

Chr9:35809420

Conflicting classifications of pathogenicity

Acromesomelic dysplasia 1, Maroteaux type
Tall stature-scoliosis-macrodactyly of the great toes syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_146546770

2 SubmittersRCV001337490 RCV004035835

NM_003995.4(NPR2):c.1557+1G>A

SNV
Germline

Chr9:35801764

Likely pathogenic

Tall stature-scoliosis-macrodactyly of the great toes syndrome
Acromesomelic dysplasia 1, Maroteaux type
Tall stature-scoliosis-macrodactyly of the great toes syndrome
Acromesomelic dysplasia 1, Maroteaux type
Short stature with nonspecific skeletal abnormalities

Criteria Provided
Single Submitter

rs_2132081744

2 SubmittersRCV001378048 RCV001535596

NM_001203.3(BMPR1B):c.229T>G (p.Ser77Ala)

SNV
Germline

Chr4:95114805

Conflicting classifications of pathogenicity

Type A2 brachydactyly
Acromesomelic dysplasia 3
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_200702974

2 SubmittersRCV001467957 RCV004038671

NM_003995.4(NPR2):c.2065C>T (p.Pro689Ser)

SNV
Unknown

Chr9:35805847

Likely pathogenic

Acromesomelic dysplasia 1, Maroteaux type

Criteria Provided
Single Submitter

rs_2132090317

1 SubmittersRCV001730000

NM_003995.4(NPR2):c.2326C>T (p.Arg776Trp)

SNV
Germline

Chr9:35806187

Conflicting classifications of pathogenicity

Acromesomelic dysplasia 1, Maroteaux type
Tall stature-scoliosis-macrodactyly of the great toes syndrome
Acromesomelic dysplasia 1, Maroteaux type

Criteria Provided
Conflicting Classifications

rs_1303913631

2 SubmittersRCV001733607 RCV002032734

NM_006259.3(PRKG2):c.1705C>T (p.Arg569Ter)

SNV
Germline

Chr4:81135226

Pathogenic

Acromesomelic dysplasia 4

No Assertion Criteria Provided

rs_1291510415

1 SubmittersRCV001786318

NM_003995.4(NPR2):c.448G>A (p.Gly150Ser)

SNV
Germline

Chr9:35792856

Pathogenic

Acromesomelic dysplasia 1, Maroteaux type

Criteria Provided
Single Submitter

rs_2132066800

1 SubmittersRCV001806315

NM_003995.4(NPR2):c.2245C>T (p.Arg749Trp)

SNV
Germline

Chr9:35806106

Pathogenic/Likely pathogenic

Acromesomelic dysplasia 1, Maroteaux type
Acromesomelic dysplasia 1, Maroteaux type
Tall stature-scoliosis-macrodactyly of the great toes syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_61758531

2 SubmittersRCV001808015 RCV001885286

NM_003995.4(NPR2):c.1577C>A (p.Ser526Ter)

SNV
Germline

Chr9:35801945

Likely pathogenic

Acromesomelic dysplasia 1, Maroteaux type

Criteria Provided
Single Submitter

rs_756858649

1 SubmittersRCV001808224

NM_003995.4(NPR2):c.1111C>T (p.Arg371Ter)

SNV
Germline

Chr9:35800145

Pathogenic

Acromesomelic dysplasia 1, Maroteaux type

Criteria Provided
Single Submitter

rs_1828094222

1 SubmittersRCV001808880

NM_001203.3(BMPR1B):c.892G>A (p.Ala298Thr)

SNV
Germline

Chr4:95131328

Conflicting classifications of pathogenicity

Acromesomelic dysplasia 3
Type A2 brachydactyly
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_373000965

2 SubmittersRCV001878395 RCV002548690

NM_003995.4(NPR2):c.1699G>T (p.Glu567Ter)

SNV
Germline

Chr9:35802272

Pathogenic

Acromesomelic dysplasia 1, Maroteaux type
Tall stature-scoliosis-macrodactyly of the great toes syndrome

Criteria Provided
Single Submitter

rs_2132082975

1 SubmittersRCV002037864

NM_003995.4(NPR2):c.613C>T (p.Arg205Ter)

SNV
Germline

Chr9:35793021

Pathogenic

Acromesomelic dysplasia 1, Maroteaux type
Tall stature-scoliosis-macrodactyly of the great toes syndrome

Criteria Provided
Single Submitter

rs_1180840764

1 SubmittersRCV001942099

NM_001203.3(BMPR1B):c.43A>G (p.Lys15Glu)

SNV
Germline

Chr4:95104467

Conflicting classifications of pathogenicity

Type A2 brachydactyly
Acromesomelic dysplasia 3
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1346115955

2 SubmittersRCV002020704 RCV002548202

NM_003995.4(NPR2):c.2869C>T (p.Arg957Cys)

SNV
Germline

Chr9:35808665

Likely pathogenic

Acromesomelic dysplasia 1, Maroteaux type
Tall stature-scoliosis-macrodactyly of the great toes syndrome

Criteria Provided
Single Submitter

rs_370158184

1 SubmittersRCV002026180

NM_003995.4(NPR2):c.2341C>T (p.Gln781Ter)

SNV
Germline

Chr9:35806202

Pathogenic

Acromesomelic dysplasia 1, Maroteaux type
Tall stature-scoliosis-macrodactyly of the great toes syndrome

Criteria Provided
Single Submitter

rs_768852284

1 SubmittersRCV001951316

NM_003995.4(NPR2):c.2221C>T (p.Arg741Ter)

SNV
Germline

Chr9:35806082

Pathogenic

Acromesomelic dysplasia 1, Maroteaux type
Tall stature-scoliosis-macrodactyly of the great toes syndrome

Criteria Provided
Single Submitter

rs_2132090998

1 SubmittersRCV001959140

NM_003995.4(NPR2):c.2845C>T (p.Arg949Ter)

SNV
Germline

Chr9:35808641

Pathogenic

Acromesomelic dysplasia 1, Maroteaux type
Tall stature-scoliosis-macrodactyly of the great toes syndrome

Criteria Provided
Single Submitter

rs_1452208078

1 SubmittersRCV001944334

NM_001203.3(BMPR1B):c.896A>G (p.Lys299Arg)

SNV
Germline

Chr4:95131332

Conflicting classifications of pathogenicity

Acromesomelic dysplasia 3
Type A2 brachydactyly
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_773095683

2 SubmittersRCV002192143 RCV003161379

NM_003995.4(NPR2):c.2116G>C (p.Asp706His)

SNV
Germline

Chr9:35805898

Likely pathogenic

Acromesomelic dysplasia 1, Maroteaux type

Criteria Provided
Single Submitter

rs_2132090468

1 SubmittersRCV002227899

NM_003995.4(NPR2):c.1924C>T (p.His642Tyr)

SNV
Germline

Chr9:35805547

Conflicting classifications of pathogenicity

Acromesomelic dysplasia 1, Maroteaux type
Acromesomelic dysplasia 1, Maroteaux type
Tall stature-scoliosis-macrodactyly of the great toes syndrome
NPR2-related disorder

Criteria Provided
Conflicting Classifications

rs_2132089495

3 SubmittersRCV002238734 RCV003093929 RCV004533993

NM_003995.4(NPR2):c.277C>A (p.Pro93Thr)

SNV
Germline

Chr9:35792685

Likely pathogenic

Acromesomelic dysplasia 1, Maroteaux type

Criteria Provided
Single Submitter

rs_773934765

1 SubmittersRCV002264895

NM_003995.4(NPR2):c.1087C>T (p.Arg363Ter)

SNV
Germline

Chr9:35800121

Pathogenic

Acromesomelic dysplasia 1, Maroteaux type
Acromesomelic dysplasia 1, Maroteaux type
Tall stature-scoliosis-macrodactyly of the great toes syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_767258629

2 SubmittersRCV002264896 RCV003774832

NM_003995.4(NPR2):c.2965C>T (p.Arg989Ter)

SNV
Germline

Chr9:35808832

Pathogenic

Tall stature-scoliosis-macrodactyly of the great toes syndrome
Acromesomelic dysplasia 1, Maroteaux type

Criteria Provided
Single Submitter

1 SubmittersRCV002615434

NM_003995.4(NPR2):c.1257G>A (p.Trp419Ter)

SNV
Germline

Chr9:35800747

Pathogenic

Acromesomelic dysplasia 1, Maroteaux type
Tall stature-scoliosis-macrodactyly of the great toes syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002612397

NM_003995.4(NPR2):c.1511C>G (p.Ser504Ter)

SNV
Germline

Chr9:35801717

Pathogenic

Acromesomelic dysplasia 1, Maroteaux type
Tall stature-scoliosis-macrodactyly of the great toes syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002885024

NM_003995.4(NPR2):c.721C>T (p.Gln241Ter)

SNV
Germline

Chr9:35793951

Pathogenic

Acromesomelic dysplasia 1, Maroteaux type
Tall stature-scoliosis-macrodactyly of the great toes syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002880521

NM_003995.4(NPR2):c.2520-3T>C

SNV
Germline

Chr9:35807020

Conflicting classifications of pathogenicity

Acromesomelic dysplasia 1, Maroteaux type
Tall stature-scoliosis-macrodactyly of the great toes syndrome
NPR2-related disorder

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002971320 RCV004536490

NM_003995.4(NPR2):c.2424T>G (p.Tyr808Ter)

SNV
Germline

Chr9:35806443

Pathogenic

Acromesomelic dysplasia 1, Maroteaux type
Tall stature-scoliosis-macrodactyly of the great toes syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003016365

NM_006259.3(PRKG2):c.1409T>G (p.Val470Gly)

SNV
Germline

Chr4:81140668

Likely pathogenic

Acromesomelic dysplasia 4

Criteria Provided
Single Submitter

1 SubmittersRCV003228231

NM_006259.3(PRKG2):c.1154+1G>A

SNV
Germline

Chr4:81148883

Pathogenic

Acromesomelic dysplasia 4

Criteria Provided
Single Submitter

rs_995285513

1 SubmittersRCV003228694

NM_003995.4(NPR2):c.1218+4A>G

SNV
Germline

Chr9:35800487

Conflicting classifications of pathogenicity

Short stature with nonspecific skeletal abnormalities
Acromesomelic dysplasia 1, Maroteaux type

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003322689 RCV003328129

NM_001203.3(BMPR1B):c.585+1G>C

SNV
Germline

Chr4:95125122

Likely pathogenic

Acromesomelic dysplasia 3
Type A2 brachydactyly

Criteria Provided
Single Submitter

1 SubmittersRCV003782784

NM_003995.4(NPR2):c.844C>T (p.Gln282Ter)

SNV
Germline

Chr9:35794074

Pathogenic

Acromesomelic dysplasia 1, Maroteaux type
Tall stature-scoliosis-macrodactyly of the great toes syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003781100

NM_003995.4(NPR2):c.1801C>A (p.Arg601Ser)

SNV
Germline

Chr9:35802593

Pathogenic

Acromesomelic dysplasia 1, Maroteaux type
Tall stature-scoliosis-macrodactyly of the great toes syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003781102

NM_003995.4(NPR2):c.1123+1G>C

SNV
Germline

Chr9:35800158

Likely pathogenic

Tall stature-scoliosis-macrodactyly of the great toes syndrome
Acromesomelic dysplasia 1, Maroteaux type

Criteria Provided
Single Submitter

1 SubmittersRCV003792529