Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_014112.5(TRPS1):c.1053C>A (p.Cys351Ter)	SNV Germline	Chr8:115604916	Pathogenic	Trichorhinophalangeal dysplasia type I	No Assertion Criteria Provided	CA117604	rs_121908430	1 SubmittersRCV000005911
NM_014112.5(TRPS1):c.1870C>T (p.Arg624Ter)	SNV Germline	Chr8:115604099	Pathogenic	Trichorhinophalangeal dysplasia type I Condition: not provided Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I Inborn genetic diseases TRPS1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA117606	rs_121908431	6 SubmittersRCV000005912 RCV000420322 RCV001383894 RCV003242962 RCV005867726
NM_014112.5(TRPS1):c.2557C>T (p.Arg853Ter)	SNV Germline	Chr8:115587144	Pathogenic	Trichorhinophalangeal dysplasia type I Condition: not provided TRPS1-related disorder	Criteria Provided Single Submitter	CA117608	rs_121908432	4 SubmittersRCV000005915 RCV000760409 RCV004739292
NM_014112.5(TRPS1):c.3315C>G (p.Tyr1105Ter)	SNV Germline	Chr8:115414593	Pathogenic	Trichorhinophalangeal dysplasia type I	No Assertion Criteria Provided	CA117612	rs_121908434	1 SubmittersRCV000005918
NM_014112.5(TRPS1):c.2762G>A (p.Arg921Gln)	SNV Germline	Chr8:115418391	Pathogenic	Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA117614	rs_121908435	5 SubmittersRCV000005919 RCV000505300 RCV000706380 RCV001781190
NM_014112.5(TRPS1):c.2795C>T (p.Ala932Val)	SNV Germline	Chr8:115418358	Pathogenic	Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I Condition: not provided Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I Congenital anomaly of kidney and urinary tract	Criteria Provided Multiple Submitters No Conflicts	CA117616	rs_121908436	6 SubmittersRCV000005920 RCV000505309 RCV001091702 RCV001212523 RCV001849257
NM_014112.5(TRPS1):c.2893C>T (p.Arg965Cys)	SNV Germline	Chr8:115415015	Pathogenic	Trichorhinophalangeal dysplasia type I Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I	Criteria Provided Single Submitter	CA117618	rs_28939069	3 SubmittersRCV000005921 RCV000700955
NM_014112.5(TRPS1):c.2894G>A (p.Arg965His)	SNV Germline	Chr8:115415014	Pathogenic/Likely pathogenic	Trichorhinophalangeal dysplasia type I Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA117620	rs_28939070	4 SubmittersRCV000005922 RCV000557205 RCV002281039
NM_014112.5(TRPS1):c.1693C>T (p.Gln565Ter)	SNV Germline	Chr8:115604276	Pathogenic	Trichorhinophalangeal dysplasia type I	Criteria Provided Single Submitter	CA339776	rs_864621974	1 SubmittersRCV000206810
NM_014112.5(TRPS1):c.1630C>T (p.Arg544Ter)	SNV Germline	Chr8:115604339	Pathogenic	Trichorhinophalangeal dysplasia type I Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I Condition: not provided Langer-Giedion syndrome Trichorhinophalangeal syndrome, type III TRPS1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA10602615	rs_886040971	14 SubmittersRCV000258505 RCV000543883 RCV000514786 RCV000856743 RCV001824718 RCV004739646
NM_014112.5(TRPS1):c.3328C>T (p.Leu1110Phe)	SNV Germline	Chr8:115414580	Conflicting classifications of pathogenicity	Condition: not provided Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I TRPS1-related disorder	Criteria Provided Conflicting Classifications	CA4851504	rs_148023627	3 SubmittersRCV000364263 RCV001079045 RCV004543087
NM_014112.5(TRPS1):c.1743C>G (p.Pro581=)	SNV Germline	Chr8:115604226	Conflicting classifications of pathogenicity	Condition: not provided Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I	Criteria Provided Conflicting Classifications	CA10605685	rs_886043582	2 SubmittersRCV000317877 RCV003765647
NM_014112.5(TRPS1):c.1607A>G (p.Tyr536Cys)	SNV Germline	Chr8:115604362	Conflicting classifications of pathogenicity	Condition: not provided Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I	Criteria Provided Conflicting Classifications	CA4851793	rs_749022707	2 SubmittersRCV000325793 RCV001316464
NM_014112.5(TRPS1):c.2976G>A (p.Pro992=)	SNV Germline	Chr8:115414932	Conflicting classifications of pathogenicity	Condition: not provided Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I	Criteria Provided Conflicting Classifications	CA4851539	rs_201030937	2 SubmittersRCV000592632 RCV002058693
NM_014112.5(TRPS1):c.422C>T (p.Pro141Leu)	SNV Germline	Chr8:115619676	Conflicting classifications of pathogenicity	See cases Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I	Criteria Provided Conflicting Classifications	CA4852008	rs_201699015	2 SubmittersRCV002287665 RCV003774952
NM_014112.5(TRPS1):c.2794G>A (p.Ala932Thr)	SNV Germline	Chr8:115418359	Pathogenic/Likely pathogenic	Alopecia areata Brachydactyly Proportionate short stature Pear-shaped nose Trichorhinophalangeal dysplasia type I Trichorhinophalangeal dysplasia type I Trichorhinophalangeal syndrome, type III	Criteria Provided Multiple Submitters No Conflicts	CA16043431	rs_1057518972	3 SubmittersRCV000415011 RCV000505377 RCV000695017
NM_014112.5(TRPS1):c.2762G>C (p.Arg921Pro)	SNV Germline	Chr8:115418391	Likely pathogenic	Trichorhinophalangeal dysplasia type I Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I	Criteria Provided Single Submitter	CA372064303	rs_121908435	2 SubmittersRCV000505360 RCV006556128
NM_014112.5(TRPS1):c.2761C>T (p.Arg921Ter)	SNV Germline	Chr8:115418392	Pathogenic	Trichorhinophalangeal dysplasia type I Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA372064305	rs_751565386	5 SubmittersRCV000505344 RCV000805667 RCV001268213
NM_014112.5(TRPS1):c.2756T>C (p.Leu919Pro)	SNV Germline	Chr8:115418397	Likely pathogenic	Trichorhinophalangeal dysplasia type I Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA372064316	rs_1554617573	3 SubmittersRCV000505296 RCV002060162
NM_014112.5(TRPS1):c.2732A>G (p.Asn911Ser)	SNV Germline	Chr8:115418421	Conflicting classifications of pathogenicity	Trichorhinophalangeal dysplasia type I Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I Trichorhinophalangeal syndrome, type III Metaphyseal chondrodysplasia	Criteria Provided Conflicting Classifications	CA372064367	rs_1554617580	5 SubmittersRCV000505363 RCV001238156 RCV002250646 RCV003883488
NM_014112.5(TRPS1):c.1882C>T (p.Gln628Ter)	SNV Germline	Chr8:115604087	Pathogenic	Trichorhinophalangeal dysplasia type I Condition: not provided	Criteria Provided Single Submitter	CA372066417	rs_1554595930	2 SubmittersRCV000505317 RCV001269908
NM_014112.5(TRPS1):c.1093C>T (p.Gln365Ter)	SNV Germline	Chr8:115604876	Pathogenic	Trichorhinophalangeal dysplasia type I Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA372068161	rs_1554596393	3 SubmittersRCV000505386 RCV001857229 RCV006270387
NM_014112.5(TRPS1):c.310C>T (p.Pro104Ser)	SNV Germline	Chr8:115619788	Conflicting classifications of pathogenicity	Condition: not provided Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4852023	rs_200964070	3 SubmittersRCV000593682 RCV002062079 RCV002532571
NM_014112.5(TRPS1):c.1043G>T (p.Cys348Phe)	SNV Germline	Chr8:115604926	Likely pathogenic	Trichorhinophalangeal dysplasia type I	Criteria Provided Single Submitter	CA372068284	rs_1554596418	1 SubmittersRCV000626152
NM_014112.5(TRPS1):c.2086C>T (p.Arg696Ter)	SNV Germline	Chr8:115603883	Pathogenic	Trichorhinophalangeal dysplasia type I Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I	Criteria Provided Multiple Submitters No Conflicts	CA184614847	rs_368166434	2 SubmittersRCV000696373 RCV005870803
NM_014112.5(TRPS1):c.2568T>G (p.Tyr856Ter)	SNV Germline	Chr8:115587133	Pathogenic	Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I	Criteria Provided Single Submitter	CA372064846	rs_1563623987	1 SubmittersRCV000688760
NM_014112.5(TRPS1):c.2988G>A (p.Arg996=)	SNV Germline	Chr8:115414920	Conflicting classifications of pathogenicity	Condition: not provided Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I	Criteria Provided Conflicting Classifications	CA4851538	rs_202158991	2 SubmittersRCV000728407 RCV002067086
NM_014112.5(TRPS1):c.1849C>T (p.Pro617Ser)	SNV Germline	Chr8:115604120	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I	Criteria Provided Conflicting Classifications	CA4851764	rs_369619683	3 SubmittersRCV000731903 RCV003165979 RCV003768217
NM_014112.5(TRPS1):c.3698G>A (p.Cys1233Tyr)	SNV Germline	Chr8:115414210	Likely pathogenic	Trichorhinophalangeal dysplasia type I Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I	Criteria Provided Single Submitter	CA372062185	rs_1586249260	2 SubmittersRCV000786782 RCV002535737
NM_014112.5(TRPS1):c.2641C>T (p.Gln881Ter)	SNV Germline	Chr8:115587060	Pathogenic	Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA372064702	rs_1156330285	2 SubmittersRCV000812162 RCV002264006
NM_014112.5(TRPS1):c.2700+1G>A	SNV Germline	Chr8:115587000	Pathogenic	Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I	Criteria Provided Single Submitter	CA372064570	rs_1586430684	1 SubmittersRCV000804556
NM_014112.5(TRPS1):c.2645A>G (p.Gln882Arg)	SNV Germline	Chr8:115587056	Conflicting classifications of pathogenicity	Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4851616	rs_369004633	2 SubmittersRCV000954029 RCV002548259
NM_014112.5(TRPS1):c.2798G>A (p.Cys933Tyr)	SNV Germline	Chr8:115418355	Likely pathogenic	Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I Trichorhinophalangeal dysplasia type I	Criteria Provided Multiple Submitters No Conflicts	CA372064222	rs_1812971156	2 SubmittersRCV001070625 RCV002468620
NM_014112.5(TRPS1):c.1180A>T (p.Lys394Ter)	SNV Germline	Chr8:115604789	Pathogenic	Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I	Criteria Provided Single Submitter	CA372067977	rs_1368938675	1 SubmittersRCV001219518
NM_014112.5(TRPS1):c.1817C>T (p.Ser606Phe)	SNV Germline	Chr8:115604152	Likely pathogenic	Trichorhinophalangeal dysplasia type I	Criteria Provided Single Submitter	CA372066546	rs_1817974591	1 SubmittersRCV001260904
NM_014112.5(TRPS1):c.94C>T (p.Gln32Ter)	SNV Unknown	Chr8:115620004	Likely pathogenic	Trichorhinophalangeal dysplasia type I	No Assertion Criteria Provided	CA372070395	rs_1818358114	1 SubmittersRCV001293675
NM_014112.5(TRPS1):c.2890A>G (p.Lys964Glu)	SNV Germline	Chr8:115415018	Likely pathogenic	Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I	Criteria Provided Single Submitter	CA372063994	rs_2129751692	1 SubmittersRCV001379723
NM_014112.5(TRPS1):c.2657C>A (p.Ser886Ter)	SNV Germline	Chr8:115587044	Pathogenic	Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I	Criteria Provided Single Submitter	CA372064668	rs_142472404	1 SubmittersRCV001381080
NM_014112.5(TRPS1):c.2453C>A (p.Ser818Ter)	SNV Germline	Chr8:115587248	Pathogenic	Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I	Criteria Provided Single Submitter	CA372065075	rs_2130444603	1 SubmittersRCV001388522
NM_014112.5(TRPS1):c.913C>T (p.Gln305Ter)	SNV Germline	Chr8:115619185	Pathogenic	Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I	Criteria Provided Single Submitter	CA372068582	rs_1297221126	1 SubmittersRCV001381734
NM_014112.5(TRPS1):c.2194C>T (p.Gln732Ter)	SNV Germline	Chr8:115587507	Pathogenic	Condition: not provided Trichorhinophalangeal dysplasia type I Trichorhinophalangeal syndrome, type III	Criteria Provided Multiple Submitters No Conflicts	CA372065655	rs_2130445786	2 SubmittersRCV001546868 RCV002570673
NM_014112.5(TRPS1):c.2374A>T (p.Lys792Ter)	SNV Germline	Chr8:115587327	Pathogenic/Likely pathogenic	Condition: not provided Trichorhinophalangeal dysplasia type I Trichorhinophalangeal syndrome, type III	Criteria Provided Multiple Submitters No Conflicts	CA372065247	rs_2130444978	2 SubmittersRCV001597490 RCV006557573
NM_014112.5(TRPS1):c.99C>G (p.Ile33Met)	SNV Germline	Chr8:115619999	Conflicting classifications of pathogenicity	Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4852053	rs_61758125	2 SubmittersRCV001958143 RCV002563377
NM_014112.5(TRPS1):c.89A>C (p.Glu30Ala)	SNV Germline	Chr8:115620009	Conflicting classifications of pathogenicity	Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I Condition: not provided	Criteria Provided Conflicting Classifications	CA4852055	rs_763955674	2 SubmittersRCV001917558 RCV004693883
NM_014112.5(TRPS1):c.1777G>T (p.Glu593Ter)	SNV Germline	Chr8:115604192	Pathogenic	Trichorhinophalangeal dysplasia type I Trichorhinophalangeal syndrome, type III	Criteria Provided Single Submitter	CA372066641	rs_2130491235	1 SubmittersRCV001932144
NM_014112.5(TRPS1):c.1690C>T (p.Gln564Ter)	SNV Germline	Chr8:115604279	Pathogenic	Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I	Criteria Provided Single Submitter	CA372066842	rs_755557039	1 SubmittersRCV001944516
NM_014112.5(TRPS1):c.1279T>G (p.Ser427Ala)	SNV Germline	Chr8:115604690	Conflicting classifications of pathogenicity	Trichorhinophalangeal dysplasia type I Trichorhinophalangeal syndrome, type III Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA4851852	rs_373510969	3 SubmittersRCV001977663 RCV003170303 RCV005412349
NM_014112.5(TRPS1):c.3770A>G (p.Gln1257Arg)	SNV Germline	Chr8:115414138	Conflicting classifications of pathogenicity	Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I Condition: not provided	Criteria Provided Conflicting Classifications	CA4851449	rs_201029096	2 SubmittersRCV001865156 RCV003434339
NM_014112.5(TRPS1):c.2188C>T (p.Gln730Ter)	SNV Germline	Chr8:115587513	Pathogenic	Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I	Criteria Provided Single Submitter	CA372065671	rs_2130445833	1 SubmittersRCV002007255
NM_014112.5(TRPS1):c.2786T>G (p.Val929Gly)	SNV Germline	Chr8:115418367	Pathogenic	Trichorhinophalangeal dysplasia type I Trichorhinophalangeal syndrome, type III	Criteria Provided Single Submitter	CA372064246	rs_2129768696	1 SubmittersRCV002034894
NM_014112.5(TRPS1):c.964C>T (p.Gln322Ter)	SNV Germline	Chr8:115619134	Pathogenic	Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I	Criteria Provided Single Submitter	CA372068474	rs_2130530613	1 SubmittersRCV001945822
NM_014112.5(TRPS1):c.2152C>T (p.Gln718Ter)	SNV Germline	Chr8:115587549	Pathogenic	Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I	Criteria Provided Single Submitter	CA372065753	rs_2130445981	1 SubmittersRCV001951132
NM_014112.5(TRPS1):c.3337G>A (p.Val1113Ile)	SNV Germline	Chr8:115414571	Conflicting classifications of pathogenicity	Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4851500	rs_368980249	2 SubmittersRCV001945024 RCV006392243
NM_014112.5(TRPS1):c.3797C>T (p.Thr1266Met)	SNV Germline	Chr8:115414111	Conflicting classifications of pathogenicity	Trichorhinophalangeal dysplasia type I Trichorhinophalangeal syndrome, type III Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4851445	rs_376875568	2 SubmittersRCV002050643 RCV003164021
NM_014112.5(TRPS1):c.1387A>T (p.Lys463Ter)	SNV Germline	Chr8:115604582	Pathogenic	Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I	Criteria Provided Single Submitter	CA372067515	rs_2130493086	1 SubmittersRCV001949526
NM_014112.5(TRPS1):c.769C>T (p.Arg257Ter)	SNV Germline	Chr8:115619329	Pathogenic	Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I Trichorhinophalangeal dysplasia type I TRPS1-related disorder Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA372068906	rs_2130531352	7 SubmittersRCV001959010 RCV002471204 RCV003314028 RCV005002727 RCV006396775
NM_014112.5(TRPS1):c.565G>A (p.Gly189Ser)	SNV Germline	Chr8:115619533	Conflicting classifications of pathogenicity	Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4851978	rs_780885595	2 SubmittersRCV001959219 RCV003170224
NM_014112.5(TRPS1):c.967-1G>T	SNV Germline	Chr8:115605003	Likely pathogenic	Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I	Criteria Provided Single Submitter	CA372068453	rs_2130494791	1 SubmittersRCV002021549
NM_014112.5(TRPS1):c.2096+1G>A	SNV Germline	Chr8:115603872	Likely pathogenic	Trichorhinophalangeal dysplasia type I	Criteria Provided Single Submitter	CA372065930	rs_2536888088	1 SubmittersRCV002287283
NM_014112.5(TRPS1):c.73G>A (p.Val25Ile)	SNV Germline	Chr8:115620025	Conflicting classifications of pathogenicity	not specified Inborn genetic diseases Trichorhinophalangeal dysplasia type I Trichorhinophalangeal syndrome, type III	Criteria Provided Conflicting Classifications	CA4852063	rs_537354921	3 SubmittersRCV002308669 RCV004047722 RCV003775019
NM_014112.5(TRPS1):c.1964C>T (p.Ser655Leu)	SNV Germline	Chr8:115604005	Conflicting classifications of pathogenicity	Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4851744	rs_367794981	3 SubmittersRCV003090996 RCV004700936 RCV005301243
NM_014112.5(TRPS1):c.2930A>G (p.Asn977Ser)	SNV Germline	Chr8:115414978	Conflicting classifications of pathogenicity	Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA372063908	rs_1427693895	2 SubmittersRCV002647700 RCV004963510
NM_014112.5(TRPS1):c.2563A>T (p.Ile855Phe)	SNV Germline	Chr8:115587138	Conflicting classifications of pathogenicity	Trichorhinophalangeal dysplasia type I Trichorhinophalangeal syndrome, type III Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4851633	rs_373433625	2 SubmittersRCV002754911 RCV005505486
NM_014112.5(TRPS1):c.2866C>T (p.Gln956Ter)	SNV Germline	Chr8:115415042	Pathogenic	Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I	Criteria Provided Single Submitter	CA372064049	rs_2536583263	1 SubmittersRCV002863318
NM_014112.5(TRPS1):c.3229A>T (p.Arg1077Ter)	SNV Germline	Chr8:115414679	Pathogenic	Trichorhinophalangeal dysplasia type I Trichorhinophalangeal syndrome, type III	Criteria Provided Single Submitter	CA372063225	rs_2536582212	1 SubmittersRCV002872233
NM_014112.5(TRPS1):c.3703A>G (p.Ile1235Val)	SNV Germline	Chr8:115414205	Conflicting classifications of pathogenicity	Inborn genetic diseases Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I	Criteria Provided Conflicting Classifications	CA4851455	rs_181858552	2 SubmittersRCV002913658 RCV002926591
NM_014112.5(TRPS1):c.1955C>A (p.Ser652Tyr)	SNV Germline	Chr8:115604014	Conflicting classifications of pathogenicity	Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4851745	rs_371696692	2 SubmittersRCV002976440 RCV004681584
NM_014112.5(TRPS1):c.152C>T (p.Ser51Phe)	SNV Germline	Chr8:115619946	Conflicting classifications of pathogenicity	Inborn genetic diseases Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I	Criteria Provided Conflicting Classifications	CA4852046	rs_375022768	2 SubmittersRCV002645558 RCV003777586
NM_014112.5(TRPS1):c.238C>T (p.Pro80Ser)	SNV Germline	Chr8:115619860	Conflicting classifications of pathogenicity	Inborn genetic diseases Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I	Criteria Provided Conflicting Classifications	CA4852033	rs_576991429	2 SubmittersRCV002687151 RCV005227817
NM_014112.5(TRPS1):c.1373C>A (p.Ser458Ter)	SNV Germline	Chr8:115604596	Pathogenic	Trichorhinophalangeal dysplasia type I	No Assertion Criteria Provided	CA372067540	rs_2536890849	1 SubmittersRCV003324615
NM_014112.5(TRPS1):c.877C>T (p.Gln293Ter)	SNV Germline	Chr8:115619221	Pathogenic	Trichorhinophalangeal dysplasia type I	No Assertion Criteria Provided	CA372068657	rs_2536913760	1 SubmittersRCV003324645
NM_014112.5(TRPS1):c.3413C>T (p.Pro1138Leu)	SNV Germline	Chr8:115414495	Conflicting classifications of pathogenicity	Inborn genetic diseases Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I	Criteria Provided Conflicting Classifications	CA184469557	rs_372605816	2 SubmittersRCV003367076 RCV003778042
NM_014112.5(TRPS1):c.697C>T (p.Gln233Ter)	SNV Germline	Chr8:115619401	Pathogenic	Trichorhinophalangeal dysplasia type I	No Assertion Criteria Provided	CA372069076	rs_2536914279	1 SubmittersRCV003389031
NM_014112.5(TRPS1):c.3737A>T (p.His1246Leu)	SNV Germline	Chr8:115414171	Likely pathogenic	Trichorhinophalangeal dysplasia type I	Criteria Provided Single Submitter	CA372062096	rs_2536580771	1 SubmittersRCV003479528
NM_014112.5(TRPS1):c.2500C>T (p.Gln834Ter)	SNV Germline	Chr8:115587201	Pathogenic	Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I	Criteria Provided Single Submitter	CA372064982	rs_2536860942	1 SubmittersRCV003785489
NM_014112.5(TRPS1):c.1417G>A (p.Gly473Arg)	SNV Germline	Chr8:115604552	Conflicting classifications of pathogenicity	Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4851831	rs_377192542	2 SubmittersRCV003783385 RCV004366511
NM_014112.5(TRPS1):c.2097-2A>C	SNV Germline	Chr8:115587606	Pathogenic/Likely pathogenic	Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA372065888	rs_2536862481	2 SubmittersRCV003781673 RCV005255771
NM_014112.5(TRPS1):c.1898C>A (p.Ser633Ter)	SNV Germline	Chr8:115604071	Pathogenic	Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I	Criteria Provided Single Submitter	CA372066378	rs_2536888816	1 SubmittersRCV003806108
NM_014112.5(TRPS1):c.1229G>A (p.Trp410Ter)	SNV Germline	Chr8:115604740	Pathogenic	Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I	Criteria Provided Single Submitter	CA372067870	rs_2536891347	1 SubmittersRCV003805538
NM_014112.5(TRPS1):c.2381G>A (p.Trp794Ter)	SNV Germline	Chr8:115587320	Pathogenic	Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I	Criteria Provided Single Submitter	CA372065230	rs_2536861441	1 SubmittersRCV003802915
NM_014112.5(TRPS1):c.2808C>G (p.Tyr936Ter)	SNV Germline	Chr8:115418345	Pathogenic	Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I	Criteria Provided Single Submitter	CA372064198	rs_1330942177	1 SubmittersRCV003801224
NM_014112.5(TRPS1):c.2506C>T (p.Gln836Ter)	SNV Germline	Chr8:115587195	Pathogenic	Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I	Criteria Provided Single Submitter	CA372064969	rs_1817580833	1 SubmittersRCV003808853
NM_014112.5(TRPS1):c.3275A>G (p.Asn1092Ser)	SNV Germline	Chr8:115414633	Conflicting classifications of pathogenicity	Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV005219616 RCV005303530
NM_014112.5(TRPS1):c.2420G>A (p.Trp807Ter)	SNV Germline	Chr8:115587281	Pathogenic	Trichorhinophalangeal dysplasia type I Trichorhinophalangeal syndrome, type III	Criteria Provided Single Submitter			1 SubmittersRCV005221585
NM_014112.5(TRPS1):c.1168A>T (p.Lys390Ter)	SNV Germline	Chr8:115604801	Pathogenic	Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I	Criteria Provided Single Submitter			1 SubmittersRCV005213043
NM_014112.5(TRPS1):c.1508C>G (p.Ser503Ter)	SNV Germline	Chr8:115604461	Pathogenic	Trichorhinophalangeal dysplasia type I Trichorhinophalangeal syndrome, type III	Criteria Provided Single Submitter			1 SubmittersRCV005221221
NM_014112.5(TRPS1):c.1856C>T (p.Ala619Val)	SNV Germline	Chr8:115604113	Conflicting classifications of pathogenicity	Trichorhinophalangeal dysplasia type I Trichorhinophalangeal syndrome, type III Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV005218820 RCV005291220
NM_014112.5(TRPS1):c.1312C>T (p.Gln438Ter)	SNV Germline	Chr8:115604657	Pathogenic	Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I	Criteria Provided Single Submitter			1 SubmittersRCV005226348
NM_014112.5(TRPS1):c.2700+1G>C	SNV Germline	Chr8:115587000	Likely pathogenic	Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I	Criteria Provided Single Submitter			1 SubmittersRCV005226379
NM_014112.5(TRPS1):c.2923C>T (p.Gln975Ter)	SNV Germline	Chr8:115414985	Pathogenic	Trichorhinophalangeal syndrome, type III Trichorhinophalangeal dysplasia type I	Criteria Provided Single Submitter			1 SubmittersRCV005220103
NM_014112.5(TRPS1):c.2812A>C (p.Lys938Gln)	SNV Germline	Chr8:115418341	Likely pathogenic	Trichorhinophalangeal dysplasia type I Trichorhinophalangeal syndrome, type III	Criteria Provided Single Submitter			1 SubmittersRCV005228417
NM_014112.5(TRPS1):c.674C>T (p.Pro225Leu)	SNV Germline	Chr8:115619424	Conflicting classifications of pathogenicity	Inborn genetic diseases Trichorhinophalangeal dysplasia type I Trichorhinophalangeal syndrome, type III	Criteria Provided Conflicting Classifications			2 SubmittersRCV005296156 RCV006567288
NM_014112.5(TRPS1):c.3738T>G (p.His1246Gln)	SNV Germline	Chr8:115414170	Likely pathogenic	Trichorhinophalangeal dysplasia type I	Criteria Provided Single Submitter			1 SubmittersRCV005624246
NM_014112.5(TRPS1):c.309C>A (p.Ser103Arg)	SNV Germline	Chr8:115619789	Conflicting classifications of pathogenicity	Inborn genetic diseases Trichorhinophalangeal dysplasia type I Trichorhinophalangeal syndrome, type III	Criteria Provided Conflicting Classifications			2 SubmittersRCV005759178 RCV006569085
NM_014112.5(TRPS1):c.3197C>A (p.Ser1066Ter)	SNV Germline	Chr8:115414711	Pathogenic	Trichorhinophalangeal dysplasia type I	Criteria Provided Single Submitter			1 SubmittersRCV006258304
NM_014112.5(TRPS1):c.3352C>T (p.Gln1118Ter)	SNV Germline	Chr8:115414556	Pathogenic	Trichorhinophalangeal dysplasia type I Trichorhinophalangeal syndrome, type III	Criteria Provided Single Submitter			1 SubmittersRCV006602957
NM_014112.5(TRPS1):c.2700+2T>G	SNV Germline	Chr8:115586999	Likely pathogenic	Trichorhinophalangeal dysplasia type I Trichorhinophalangeal syndrome, type III	Criteria Provided Single Submitter			1 SubmittersRCV006592243

NM_014112.5(TRPS1):c.1053C>A (p.Cys351Ter)

SNV
Germline

Chr8:115604916

Pathogenic

Trichorhinophalangeal dysplasia type I

No Assertion Criteria Provided

CA117604

rs_121908430

1 SubmittersRCV000005911

NM_014112.5(TRPS1):c.1870C>T (p.Arg624Ter)

SNV
Germline

Chr8:115604099

Pathogenic

Trichorhinophalangeal dysplasia type I
Condition: not provided
Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I
Inborn genetic diseases
TRPS1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA117606

rs_121908431

6 SubmittersRCV000005912 RCV000420322 RCV001383894 RCV003242962 RCV005867726

NM_014112.5(TRPS1):c.2557C>T (p.Arg853Ter)

SNV
Germline

Chr8:115587144

Pathogenic

Trichorhinophalangeal dysplasia type I
Condition: not provided
TRPS1-related disorder

Criteria Provided
Single Submitter

CA117608

rs_121908432

4 SubmittersRCV000005915 RCV000760409 RCV004739292

NM_014112.5(TRPS1):c.3315C>G (p.Tyr1105Ter)

SNV
Germline

Chr8:115414593

Pathogenic

Trichorhinophalangeal dysplasia type I

No Assertion Criteria Provided

CA117612

rs_121908434

1 SubmittersRCV000005918

NM_014112.5(TRPS1):c.2762G>A (p.Arg921Gln)

SNV
Germline

Chr8:115418391

Pathogenic

Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA117614

rs_121908435

5 SubmittersRCV000005919 RCV000505300 RCV000706380 RCV001781190

NM_014112.5(TRPS1):c.2795C>T (p.Ala932Val)

SNV
Germline

Chr8:115418358

Pathogenic

Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I
Condition: not provided
Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I
Congenital anomaly of kidney and urinary tract

Criteria Provided
Multiple Submitters
No Conflicts

CA117616

rs_121908436

6 SubmittersRCV000005920 RCV000505309 RCV001091702 RCV001212523 RCV001849257

NM_014112.5(TRPS1):c.2893C>T (p.Arg965Cys)

SNV
Germline

Chr8:115415015

Pathogenic

Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I

Criteria Provided
Single Submitter

CA117618

rs_28939069

3 SubmittersRCV000005921 RCV000700955

NM_014112.5(TRPS1):c.2894G>A (p.Arg965His)

SNV
Germline

Chr8:115415014

Pathogenic/Likely pathogenic

Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA117620

rs_28939070

4 SubmittersRCV000005922 RCV000557205 RCV002281039

NM_014112.5(TRPS1):c.1693C>T (p.Gln565Ter)

SNV
Germline

Chr8:115604276

Pathogenic

Trichorhinophalangeal dysplasia type I

Criteria Provided
Single Submitter

CA339776

rs_864621974

1 SubmittersRCV000206810

NM_014112.5(TRPS1):c.1630C>T (p.Arg544Ter)

SNV
Germline

Chr8:115604339

Pathogenic

Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I
Condition: not provided
Langer-Giedion syndrome
Trichorhinophalangeal syndrome, type III
TRPS1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10602615

rs_886040971

14 SubmittersRCV000258505 RCV000543883 RCV000514786 RCV000856743 RCV001824718 RCV004739646

NM_014112.5(TRPS1):c.3328C>T (p.Leu1110Phe)

SNV
Germline

Chr8:115414580

Conflicting classifications of pathogenicity

Condition: not provided
Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I
TRPS1-related disorder

Criteria Provided
Conflicting Classifications

CA4851504

rs_148023627

3 SubmittersRCV000364263 RCV001079045 RCV004543087

NM_014112.5(TRPS1):c.1743C>G (p.Pro581=)

SNV
Germline

Chr8:115604226

Conflicting classifications of pathogenicity

Condition: not provided
Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I

Criteria Provided
Conflicting Classifications

CA10605685

rs_886043582

2 SubmittersRCV000317877 RCV003765647

NM_014112.5(TRPS1):c.1607A>G (p.Tyr536Cys)

SNV
Germline

Chr8:115604362

Conflicting classifications of pathogenicity

Condition: not provided
Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I

Criteria Provided
Conflicting Classifications

CA4851793

rs_749022707

2 SubmittersRCV000325793 RCV001316464

NM_014112.5(TRPS1):c.2976G>A (p.Pro992=)

SNV
Germline

Chr8:115414932

Conflicting classifications of pathogenicity

Condition: not provided
Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I

Criteria Provided
Conflicting Classifications

CA4851539

rs_201030937

2 SubmittersRCV000592632 RCV002058693

NM_014112.5(TRPS1):c.422C>T (p.Pro141Leu)

SNV
Germline

Chr8:115619676

Conflicting classifications of pathogenicity

See cases
Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I

Criteria Provided
Conflicting Classifications

CA4852008

rs_201699015

2 SubmittersRCV002287665 RCV003774952

NM_014112.5(TRPS1):c.2794G>A (p.Ala932Thr)

SNV
Germline

Chr8:115418359

Pathogenic/Likely pathogenic

Alopecia areata
Brachydactyly
Proportionate short stature
Pear-shaped nose
Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III

Criteria Provided
Multiple Submitters
No Conflicts

CA16043431

rs_1057518972

3 SubmittersRCV000415011 RCV000505377 RCV000695017

NM_014112.5(TRPS1):c.2762G>C (p.Arg921Pro)

SNV
Germline

Chr8:115418391

Likely pathogenic

Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I

Criteria Provided
Single Submitter

CA372064303

rs_121908435

2 SubmittersRCV000505360 RCV006556128

NM_014112.5(TRPS1):c.2761C>T (p.Arg921Ter)

SNV
Germline

Chr8:115418392

Pathogenic

Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA372064305

rs_751565386

5 SubmittersRCV000505344 RCV000805667 RCV001268213

NM_014112.5(TRPS1):c.2756T>C (p.Leu919Pro)

SNV
Germline

Chr8:115418397

Likely pathogenic

Trichorhinophalangeal dysplasia type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA372064316

rs_1554617573

3 SubmittersRCV000505296 RCV002060162

NM_014112.5(TRPS1):c.2732A>G (p.Asn911Ser)

SNV
Germline

Chr8:115418421

Conflicting classifications of pathogenicity

Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III
Metaphyseal chondrodysplasia

Criteria Provided
Conflicting Classifications

CA372064367

rs_1554617580

5 SubmittersRCV000505363 RCV001238156 RCV002250646 RCV003883488

NM_014112.5(TRPS1):c.1882C>T (p.Gln628Ter)

SNV
Germline

Chr8:115604087

Pathogenic

Trichorhinophalangeal dysplasia type I
Condition: not provided

Criteria Provided
Single Submitter

CA372066417

rs_1554595930

2 SubmittersRCV000505317 RCV001269908

NM_014112.5(TRPS1):c.1093C>T (p.Gln365Ter)

SNV
Germline

Chr8:115604876

Pathogenic

Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA372068161

rs_1554596393

3 SubmittersRCV000505386 RCV001857229 RCV006270387

NM_014112.5(TRPS1):c.310C>T (p.Pro104Ser)

SNV
Germline

Chr8:115619788

Conflicting classifications of pathogenicity

Condition: not provided
Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4852023

rs_200964070

3 SubmittersRCV000593682 RCV002062079 RCV002532571

NM_014112.5(TRPS1):c.1043G>T (p.Cys348Phe)

SNV
Germline

Chr8:115604926

Likely pathogenic

Trichorhinophalangeal dysplasia type I

Criteria Provided
Single Submitter

CA372068284

rs_1554596418

1 SubmittersRCV000626152

NM_014112.5(TRPS1):c.2086C>T (p.Arg696Ter)

SNV
Germline

Chr8:115603883

Pathogenic

Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I

Criteria Provided
Multiple Submitters
No Conflicts

CA184614847

rs_368166434

2 SubmittersRCV000696373 RCV005870803

NM_014112.5(TRPS1):c.2568T>G (p.Tyr856Ter)

SNV
Germline

Chr8:115587133

Pathogenic

Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I

Criteria Provided
Single Submitter

CA372064846

rs_1563623987

1 SubmittersRCV000688760

NM_014112.5(TRPS1):c.2988G>A (p.Arg996=)

SNV
Germline

Chr8:115414920

Conflicting classifications of pathogenicity

Condition: not provided
Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I

Criteria Provided
Conflicting Classifications

CA4851538

rs_202158991

2 SubmittersRCV000728407 RCV002067086

NM_014112.5(TRPS1):c.1849C>T (p.Pro617Ser)

SNV
Germline

Chr8:115604120

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I

Criteria Provided
Conflicting Classifications

CA4851764

rs_369619683

3 SubmittersRCV000731903 RCV003165979 RCV003768217

NM_014112.5(TRPS1):c.3698G>A (p.Cys1233Tyr)

SNV
Germline

Chr8:115414210

Likely pathogenic

Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I

Criteria Provided
Single Submitter

CA372062185

rs_1586249260

2 SubmittersRCV000786782 RCV002535737

NM_014112.5(TRPS1):c.2641C>T (p.Gln881Ter)

SNV
Germline

Chr8:115587060

Pathogenic

Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA372064702

rs_1156330285

2 SubmittersRCV000812162 RCV002264006

NM_014112.5(TRPS1):c.2700+1G>A

SNV
Germline

Chr8:115587000

Pathogenic

Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I

Criteria Provided
Single Submitter

CA372064570

rs_1586430684

1 SubmittersRCV000804556

NM_014112.5(TRPS1):c.2645A>G (p.Gln882Arg)

SNV
Germline

Chr8:115587056

Conflicting classifications of pathogenicity

Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4851616

rs_369004633

2 SubmittersRCV000954029 RCV002548259

NM_014112.5(TRPS1):c.2798G>A (p.Cys933Tyr)

SNV
Germline

Chr8:115418355

Likely pathogenic

Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I

Criteria Provided
Multiple Submitters
No Conflicts

CA372064222

rs_1812971156

2 SubmittersRCV001070625 RCV002468620

NM_014112.5(TRPS1):c.1180A>T (p.Lys394Ter)

SNV
Germline

Chr8:115604789

Pathogenic

Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I

Criteria Provided
Single Submitter

CA372067977

rs_1368938675

1 SubmittersRCV001219518

NM_014112.5(TRPS1):c.1817C>T (p.Ser606Phe)

SNV
Germline

Chr8:115604152

Likely pathogenic

Trichorhinophalangeal dysplasia type I

Criteria Provided
Single Submitter

CA372066546

rs_1817974591

1 SubmittersRCV001260904

NM_014112.5(TRPS1):c.94C>T (p.Gln32Ter)

SNV
Unknown

Chr8:115620004

Likely pathogenic

Trichorhinophalangeal dysplasia type I

No Assertion Criteria Provided

CA372070395

rs_1818358114

1 SubmittersRCV001293675

NM_014112.5(TRPS1):c.2890A>G (p.Lys964Glu)

SNV
Germline

Chr8:115415018

Likely pathogenic

Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I

Criteria Provided
Single Submitter

CA372063994

rs_2129751692

1 SubmittersRCV001379723

NM_014112.5(TRPS1):c.2657C>A (p.Ser886Ter)

SNV
Germline

Chr8:115587044

Pathogenic

Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I

Criteria Provided
Single Submitter

CA372064668

rs_142472404

1 SubmittersRCV001381080

NM_014112.5(TRPS1):c.2453C>A (p.Ser818Ter)

SNV
Germline

Chr8:115587248

Pathogenic

Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I

Criteria Provided
Single Submitter

CA372065075

rs_2130444603

1 SubmittersRCV001388522

NM_014112.5(TRPS1):c.913C>T (p.Gln305Ter)

SNV
Germline

Chr8:115619185

Pathogenic

Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I

Criteria Provided
Single Submitter

CA372068582

rs_1297221126

1 SubmittersRCV001381734

NM_014112.5(TRPS1):c.2194C>T (p.Gln732Ter)

SNV
Germline

Chr8:115587507

Pathogenic

Condition: not provided
Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III

Criteria Provided
Multiple Submitters
No Conflicts

CA372065655

rs_2130445786

2 SubmittersRCV001546868 RCV002570673

NM_014112.5(TRPS1):c.2374A>T (p.Lys792Ter)

SNV
Germline

Chr8:115587327

Pathogenic/Likely pathogenic

Condition: not provided
Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III

Criteria Provided
Multiple Submitters
No Conflicts

CA372065247

rs_2130444978

2 SubmittersRCV001597490 RCV006557573

NM_014112.5(TRPS1):c.99C>G (p.Ile33Met)

SNV
Germline

Chr8:115619999

Conflicting classifications of pathogenicity

Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4852053

rs_61758125

2 SubmittersRCV001958143 RCV002563377

NM_014112.5(TRPS1):c.89A>C (p.Glu30Ala)

SNV
Germline

Chr8:115620009

Conflicting classifications of pathogenicity

Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4852055

rs_763955674

2 SubmittersRCV001917558 RCV004693883

NM_014112.5(TRPS1):c.1777G>T (p.Glu593Ter)

SNV
Germline

Chr8:115604192

Pathogenic

Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III

Criteria Provided
Single Submitter

CA372066641

rs_2130491235

1 SubmittersRCV001932144

NM_014112.5(TRPS1):c.1690C>T (p.Gln564Ter)

SNV
Germline

Chr8:115604279

Pathogenic

Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I

Criteria Provided
Single Submitter

CA372066842

rs_755557039

1 SubmittersRCV001944516

NM_014112.5(TRPS1):c.1279T>G (p.Ser427Ala)

SNV
Germline

Chr8:115604690

Conflicting classifications of pathogenicity

Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4851852

rs_373510969

3 SubmittersRCV001977663 RCV003170303 RCV005412349

NM_014112.5(TRPS1):c.3770A>G (p.Gln1257Arg)

SNV
Germline

Chr8:115414138

Conflicting classifications of pathogenicity

Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4851449

rs_201029096

2 SubmittersRCV001865156 RCV003434339

NM_014112.5(TRPS1):c.2188C>T (p.Gln730Ter)

SNV
Germline

Chr8:115587513

Pathogenic

Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I

Criteria Provided
Single Submitter

CA372065671

rs_2130445833

1 SubmittersRCV002007255

NM_014112.5(TRPS1):c.2786T>G (p.Val929Gly)

SNV
Germline

Chr8:115418367

Pathogenic

Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III

Criteria Provided
Single Submitter

CA372064246

rs_2129768696

1 SubmittersRCV002034894

NM_014112.5(TRPS1):c.964C>T (p.Gln322Ter)

SNV
Germline

Chr8:115619134

Pathogenic

Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I

Criteria Provided
Single Submitter

CA372068474

rs_2130530613

1 SubmittersRCV001945822

NM_014112.5(TRPS1):c.2152C>T (p.Gln718Ter)

SNV
Germline

Chr8:115587549

Pathogenic

Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I

Criteria Provided
Single Submitter

CA372065753

rs_2130445981

1 SubmittersRCV001951132

NM_014112.5(TRPS1):c.3337G>A (p.Val1113Ile)

SNV
Germline

Chr8:115414571

Conflicting classifications of pathogenicity

Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4851500

rs_368980249

2 SubmittersRCV001945024 RCV006392243

NM_014112.5(TRPS1):c.3797C>T (p.Thr1266Met)

SNV
Germline

Chr8:115414111

Conflicting classifications of pathogenicity

Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4851445

rs_376875568

2 SubmittersRCV002050643 RCV003164021

NM_014112.5(TRPS1):c.1387A>T (p.Lys463Ter)

SNV
Germline

Chr8:115604582

Pathogenic

Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I

Criteria Provided
Single Submitter

CA372067515

rs_2130493086

1 SubmittersRCV001949526

NM_014112.5(TRPS1):c.769C>T (p.Arg257Ter)

SNV
Germline

Chr8:115619329

Pathogenic

Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I
TRPS1-related disorder
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA372068906

rs_2130531352

7 SubmittersRCV001959010 RCV002471204 RCV003314028 RCV005002727 RCV006396775

NM_014112.5(TRPS1):c.565G>A (p.Gly189Ser)

SNV
Germline

Chr8:115619533

Conflicting classifications of pathogenicity

Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4851978

rs_780885595

2 SubmittersRCV001959219 RCV003170224

NM_014112.5(TRPS1):c.967-1G>T

SNV
Germline

Chr8:115605003

Likely pathogenic

Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I

Criteria Provided
Single Submitter

CA372068453

rs_2130494791

1 SubmittersRCV002021549

NM_014112.5(TRPS1):c.2096+1G>A

SNV
Germline

Chr8:115603872

Likely pathogenic

Trichorhinophalangeal dysplasia type I

Criteria Provided
Single Submitter

CA372065930

rs_2536888088

1 SubmittersRCV002287283

NM_014112.5(TRPS1):c.73G>A (p.Val25Ile)

SNV
Germline

Chr8:115620025

Conflicting classifications of pathogenicity

not specified
Inborn genetic diseases
Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III

Criteria Provided
Conflicting Classifications

CA4852063

rs_537354921

3 SubmittersRCV002308669 RCV004047722 RCV003775019

NM_014112.5(TRPS1):c.1964C>T (p.Ser655Leu)

SNV
Germline

Chr8:115604005

Conflicting classifications of pathogenicity

Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4851744

rs_367794981

3 SubmittersRCV003090996 RCV004700936 RCV005301243

NM_014112.5(TRPS1):c.2930A>G (p.Asn977Ser)

SNV
Germline

Chr8:115414978

Conflicting classifications of pathogenicity

Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA372063908

rs_1427693895

2 SubmittersRCV002647700 RCV004963510

NM_014112.5(TRPS1):c.2563A>T (p.Ile855Phe)

SNV
Germline

Chr8:115587138

Conflicting classifications of pathogenicity

Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4851633

rs_373433625

2 SubmittersRCV002754911 RCV005505486

NM_014112.5(TRPS1):c.2866C>T (p.Gln956Ter)

SNV
Germline

Chr8:115415042

Pathogenic

Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I

Criteria Provided
Single Submitter

CA372064049

rs_2536583263

1 SubmittersRCV002863318

NM_014112.5(TRPS1):c.3229A>T (p.Arg1077Ter)

SNV
Germline

Chr8:115414679

Pathogenic

Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III

Criteria Provided
Single Submitter

CA372063225

rs_2536582212

1 SubmittersRCV002872233

NM_014112.5(TRPS1):c.3703A>G (p.Ile1235Val)

SNV
Germline

Chr8:115414205

Conflicting classifications of pathogenicity

Inborn genetic diseases
Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I

Criteria Provided
Conflicting Classifications

CA4851455

rs_181858552

2 SubmittersRCV002913658 RCV002926591

NM_014112.5(TRPS1):c.1955C>A (p.Ser652Tyr)

SNV
Germline

Chr8:115604014

Conflicting classifications of pathogenicity

Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4851745

rs_371696692

2 SubmittersRCV002976440 RCV004681584

NM_014112.5(TRPS1):c.152C>T (p.Ser51Phe)

SNV
Germline

Chr8:115619946

Conflicting classifications of pathogenicity

Inborn genetic diseases
Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I

Criteria Provided
Conflicting Classifications

CA4852046

rs_375022768

2 SubmittersRCV002645558 RCV003777586

NM_014112.5(TRPS1):c.238C>T (p.Pro80Ser)

SNV
Germline

Chr8:115619860

Conflicting classifications of pathogenicity

Inborn genetic diseases
Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I

Criteria Provided
Conflicting Classifications

CA4852033

rs_576991429

2 SubmittersRCV002687151 RCV005227817

NM_014112.5(TRPS1):c.1373C>A (p.Ser458Ter)

SNV
Germline

Chr8:115604596

Pathogenic

Trichorhinophalangeal dysplasia type I

No Assertion Criteria Provided

CA372067540

rs_2536890849

1 SubmittersRCV003324615

NM_014112.5(TRPS1):c.877C>T (p.Gln293Ter)

SNV
Germline

Chr8:115619221

Pathogenic

Trichorhinophalangeal dysplasia type I

No Assertion Criteria Provided

CA372068657

rs_2536913760

1 SubmittersRCV003324645

NM_014112.5(TRPS1):c.3413C>T (p.Pro1138Leu)

SNV
Germline

Chr8:115414495

Conflicting classifications of pathogenicity

Inborn genetic diseases
Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I

Criteria Provided
Conflicting Classifications

CA184469557

rs_372605816

2 SubmittersRCV003367076 RCV003778042

NM_014112.5(TRPS1):c.697C>T (p.Gln233Ter)

SNV
Germline

Chr8:115619401

Pathogenic

Trichorhinophalangeal dysplasia type I

No Assertion Criteria Provided

CA372069076

rs_2536914279

1 SubmittersRCV003389031

NM_014112.5(TRPS1):c.3737A>T (p.His1246Leu)

SNV
Germline

Chr8:115414171

Likely pathogenic

Trichorhinophalangeal dysplasia type I

Criteria Provided
Single Submitter

CA372062096

rs_2536580771

1 SubmittersRCV003479528

NM_014112.5(TRPS1):c.2500C>T (p.Gln834Ter)

SNV
Germline

Chr8:115587201

Pathogenic

Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I

Criteria Provided
Single Submitter

CA372064982

rs_2536860942

1 SubmittersRCV003785489

NM_014112.5(TRPS1):c.1417G>A (p.Gly473Arg)

SNV
Germline

Chr8:115604552

Conflicting classifications of pathogenicity

Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4851831

rs_377192542

2 SubmittersRCV003783385 RCV004366511

NM_014112.5(TRPS1):c.2097-2A>C

SNV
Germline

Chr8:115587606

Pathogenic/Likely pathogenic

Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA372065888

rs_2536862481

2 SubmittersRCV003781673 RCV005255771

NM_014112.5(TRPS1):c.1898C>A (p.Ser633Ter)

SNV
Germline

Chr8:115604071

Pathogenic

Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I

Criteria Provided
Single Submitter

CA372066378

rs_2536888816

1 SubmittersRCV003806108

NM_014112.5(TRPS1):c.1229G>A (p.Trp410Ter)

SNV
Germline

Chr8:115604740

Pathogenic

Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I

Criteria Provided
Single Submitter

CA372067870

rs_2536891347

1 SubmittersRCV003805538

NM_014112.5(TRPS1):c.2381G>A (p.Trp794Ter)

SNV
Germline

Chr8:115587320

Pathogenic

Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I

Criteria Provided
Single Submitter

CA372065230

rs_2536861441

1 SubmittersRCV003802915

NM_014112.5(TRPS1):c.2808C>G (p.Tyr936Ter)

SNV
Germline

Chr8:115418345

Pathogenic

Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I

Criteria Provided
Single Submitter

CA372064198

rs_1330942177

1 SubmittersRCV003801224

NM_014112.5(TRPS1):c.2506C>T (p.Gln836Ter)

SNV
Germline

Chr8:115587195

Pathogenic

Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I

Criteria Provided
Single Submitter

CA372064969

rs_1817580833

1 SubmittersRCV003808853

NM_014112.5(TRPS1):c.3275A>G (p.Asn1092Ser)

SNV
Germline

Chr8:115414633

Conflicting classifications of pathogenicity

Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005219616 RCV005303530

NM_014112.5(TRPS1):c.2420G>A (p.Trp807Ter)

SNV
Germline

Chr8:115587281

Pathogenic

Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III

Criteria Provided
Single Submitter

1 SubmittersRCV005221585

NM_014112.5(TRPS1):c.1168A>T (p.Lys390Ter)

SNV
Germline

Chr8:115604801

Pathogenic

Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I

Criteria Provided
Single Submitter

1 SubmittersRCV005213043

NM_014112.5(TRPS1):c.1508C>G (p.Ser503Ter)

SNV
Germline

Chr8:115604461

Pathogenic

Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III

Criteria Provided
Single Submitter

1 SubmittersRCV005221221

NM_014112.5(TRPS1):c.1856C>T (p.Ala619Val)

SNV
Germline

Chr8:115604113

Conflicting classifications of pathogenicity

Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005218820 RCV005291220

NM_014112.5(TRPS1):c.1312C>T (p.Gln438Ter)

SNV
Germline

Chr8:115604657

Pathogenic

Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I

Criteria Provided
Single Submitter

1 SubmittersRCV005226348

NM_014112.5(TRPS1):c.2700+1G>C

SNV
Germline

Chr8:115587000

Likely pathogenic

Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I

Criteria Provided
Single Submitter

1 SubmittersRCV005226379

NM_014112.5(TRPS1):c.2923C>T (p.Gln975Ter)

SNV
Germline

Chr8:115414985

Pathogenic

Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I

Criteria Provided
Single Submitter

1 SubmittersRCV005220103

NM_014112.5(TRPS1):c.2812A>C (p.Lys938Gln)

SNV
Germline

Chr8:115418341

Likely pathogenic

Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III

Criteria Provided
Single Submitter

1 SubmittersRCV005228417

NM_014112.5(TRPS1):c.674C>T (p.Pro225Leu)

SNV
Germline

Chr8:115619424

Conflicting classifications of pathogenicity

Inborn genetic diseases
Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005296156 RCV006567288

NM_014112.5(TRPS1):c.3738T>G (p.His1246Gln)

SNV
Germline

Chr8:115414170

Likely pathogenic

Trichorhinophalangeal dysplasia type I

Criteria Provided
Single Submitter

1 SubmittersRCV005624246

NM_014112.5(TRPS1):c.309C>A (p.Ser103Arg)

SNV
Germline

Chr8:115619789

Conflicting classifications of pathogenicity

Inborn genetic diseases
Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005759178 RCV006569085

NM_014112.5(TRPS1):c.3197C>A (p.Ser1066Ter)

SNV
Germline

Chr8:115414711

Pathogenic

Trichorhinophalangeal dysplasia type I

Criteria Provided
Single Submitter

1 SubmittersRCV006258304

NM_014112.5(TRPS1):c.3352C>T (p.Gln1118Ter)

SNV
Germline

Chr8:115414556

Pathogenic

Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III

Criteria Provided
Single Submitter

1 SubmittersRCV006602957

NM_014112.5(TRPS1):c.2700+2T>G

SNV
Germline

Chr8:115586999

Likely pathogenic

Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III

Criteria Provided
Single Submitter

1 SubmittersRCV006592243