Total 105 pathogenic variants reported for Trichorhinophalangeal syndrome 
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.1870C>T (p.Arg624Ter) SNV
Germline		 Chr8:115604099 Pathogenic Trichorhinophalangeal dysplasia type I
Condition: not provided
Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III
Inborn genetic diseases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA117606 rs_121908431

5 SubmittersRCV000005912RCV000420322RCV001383894RCV003242962
NM_014112.5(TRPS1):c.2740A>C (p.Thr914Pro) SNV
Germline		 Chr8:115418413 Pathogenic Trichorhinophalangeal syndrome, type III No Assertion Criteria Provided
 CA117610 rs_121908433

1 SubmittersRCV000005917
NM_014112.5(TRPS1):c.2762G>A (p.Arg921Gln) SNV
Germline		 Chr8:115418391 Pathogenic Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA117614 rs_121908435

5 SubmittersRCV000005919RCV000505300RCV000706380RCV001781190
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 dysplasia type I
Trichorhinophalangeal syndrome, type III
Congenital anomaly of kidney and urinary tract		 Criteria Provided
Multiple Submitters
No Conflicts
 CA117616 rs_121908436

6 SubmittersRCV000005920RCV000505309RCV001091702RCV001212523RCV001849257
NM_014112.5(TRPS1):c.2893C>T (p.Arg965Cys) SNV
Germline		 Chr8:115415015 Pathogenic Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III		 Criteria Provided
Single Submitter
 CA117618 rs_28939069

3 SubmittersRCV000005921RCV000700955
NM_014112.5(TRPS1):c.2894G>A (p.Arg965His) SNV
Germline		 Chr8:115415014 Pathogenic/Likely pathogenic Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA117620 rs_28939070

4 SubmittersRCV000005922RCV000557205RCV002281039
NM_014112.5(TRPS1):c.1630C>T (p.Arg544Ter) SNV
Germline		 Chr8:115604339 Pathogenic Trichorhinophalangeal dysplasia type I
Condition: not provided
Langer-Giedion syndrome
Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10602615 rs_886040971

12 SubmittersRCV000258505RCV000514786RCV000856743RCV000543883RCV001824718
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 SubmittersRCV000364263RCV001079045RCV004543087
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 SubmittersRCV000317877RCV003765647
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 SubmittersRCV000592632RCV002058693
NM_014112.5(TRPS1):c.422C>T (p.Pro141Leu) SNV
Germline		 Chr8:115619676 Conflicting classifications of pathogenicity See cases
Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III		 Criteria Provided
Conflicting Classifications
 rs_201699015

2 SubmittersRCV002287665RCV003774952
NM_014112.5(TRPS1):c.2794G>A (p.Ala932Thr) SNV
Germline		 Chr8:115418359 Pathogenic/Likely pathogenic Proportionate short stature
Pear-shaped nose
Alopecia areata
Brachydactyly
Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16043431 rs_1057518972

3 SubmittersRCV000415011RCV000505377RCV000695017
NM_014112.5(TRPS1):c.2761C>T (p.Arg921Ter) SNV
Germline		 Chr8:115418392 Pathogenic Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA372064305 rs_751565386

4 SubmittersRCV000505344RCV000805667RCV001268213
NM_014112.5(TRPS1):c.2732A>G (p.Asn911Ser) SNV
Germline		 Chr8:115418421 Likely pathogenic Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal syndrome, type III
Metaphyseal chondrodysplasia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA372064367 rs_1554617580

4 SubmittersRCV000505363RCV001238156RCV002250646RCV003883488
NM_014112.5(TRPS1):c.1093C>T (p.Gln365Ter) SNV
Germline		 Chr8:115604876 Pathogenic Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III		 Criteria Provided
Single Submitter
 CA372068161 rs_1554596393

2 SubmittersRCV000505386RCV001857229
NM_014112.5(TRPS1):c.310C>T (p.Pro104Ser) SNV
Germline		 Chr8:115619788 Conflicting classifications of pathogenicity Condition: not provided
Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA4852023 rs_200964070

3 SubmittersRCV000593682RCV002062079RCV002532571
NM_014112.5(TRPS1):c.2086C>T (p.Arg696Ter) SNV
Germline		 Chr8:115603883 Pathogenic Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III		 Criteria Provided
Single Submitter
 rs_368166434

1 SubmittersRCV000696373
NM_014112.5(TRPS1):c.2568T>G (p.Tyr856Ter) SNV
Germline		 Chr8:115587133 Pathogenic Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III		 Criteria Provided
Single Submitter
 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
 rs_202158991

2 SubmittersRCV000728407RCV002067086
NM_014112.5(TRPS1):c.1849C>T (p.Pro617Ser) SNV
Germline		 Chr8:115604120 Conflicting classifications of pathogenicity Condition: not provided
Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_369619683

3 SubmittersRCV000731903RCV003768217RCV003165979
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
 rs_1586249260

2 SubmittersRCV000786782RCV002535737
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
 rs_1156330285

2 SubmittersRCV000812162RCV002264006
NM_014112.5(TRPS1):c.2700+1G>A SNV
Germline		 Chr8:115587000 Pathogenic Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III		 Criteria Provided
Single Submitter
 rs_1586430684

1 SubmittersRCV000804556
NM_014112.5(TRPS1):c.2645A>G (p.Gln882Arg) SNV
Germline		 Chr8:115587056 Conflicting classifications of pathogenicity Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_369004633

2 SubmittersRCV000954029RCV002548259
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
 rs_1812971156

2 SubmittersRCV001070625RCV002468620
NM_014112.5(TRPS1):c.1180A>T (p.Lys394Ter) SNV
Germline		 Chr8:115604789 Pathogenic Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III		 Criteria Provided
Single Submitter
 rs_1368938675

1 SubmittersRCV001219518
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
 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
 rs_142472404

1 SubmittersRCV001381080
NM_014112.5(TRPS1):c.2453C>A (p.Ser818Ter) SNV
Germline		 Chr8:115587248 Pathogenic Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III		 Criteria Provided
Single Submitter
 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
 rs_1297221126

1 SubmittersRCV001381734
NM_014112.5(TRPS1):c.2194C>T (p.Gln732Ter) SNV
Germline		 Chr8:115587507 Pathogenic Condition: not provided
Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2130445786

2 SubmittersRCV001546868RCV002570673
NM_014112.5(TRPS1):c.1382C>G (p.Ser461Ter) SNV
Unknown		 Chr8:115604587 Pathogenic Trichorhinophalangeal syndrome Criteria Provided
Single Submitter
 rs_2130493114

1 SubmittersRCV001795617
NM_014112.5(TRPS1):c.99C>G (p.Ile33Met) SNV
Germline		 Chr8:115619999 Conflicting classifications of pathogenicity Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_61758125

2 SubmittersRCV001958143RCV002563377
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
 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
 rs_755557039

1 SubmittersRCV001944516
NM_014112.5(TRPS1):c.1279T>G (p.Ser427Ala) SNV
Germline		 Chr8:115604690 Conflicting classifications of pathogenicity Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 rs_373510969

2 SubmittersRCV001977663RCV003170303
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
 rs_201029096

2 SubmittersRCV001865156RCV003434339
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
 rs_2130445833

1 SubmittersRCV002007255
NM_014112.5(TRPS1):c.2786T>G (p.Val929Gly) SNV
Germline		 Chr8:115418367 Pathogenic Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I		 Criteria Provided
Single Submitter
 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
 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
 rs_2130445981

1 SubmittersRCV001951132
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
 rs_376875568

2 SubmittersRCV002050643RCV003164021
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
 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
TRPS1-related disorder
Trichorhinophalangeal dysplasia type I		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_2130531352

5 SubmittersRCV001959010RCV003314028RCV002471204
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
 rs_780885595

2 SubmittersRCV001959219RCV003170224
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
 rs_2130494791

1 SubmittersRCV002021549
NM_014112.5(TRPS1):c.2726G>A (p.Cys909Tyr) SNV
Germline		 Chr8:115418427 Pathogenic Trichorhinophalangeal syndrome type I or III Criteria Provided
Single Submitter
 rs_2129769241

1 SubmittersRCV002272981
NM_014112.5(TRPS1):c.73G>A (p.Val25Ile) SNV
Germline		 Chr8:115620025 Conflicting classifications of pathogenicity not specified
Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications

3 SubmittersRCV002308669RCV003775019RCV004047722
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

1 SubmittersRCV002863318
NM_014112.5(TRPS1):c.3229A>T (p.Arg1077Ter) SNV
Germline		 Chr8:115414679 Pathogenic Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I		 Criteria Provided
Single Submitter

1 SubmittersRCV002872233
NM_014112.5(TRPS1):c.3703A>G (p.Ile1235Val) SNV
Germline		 Chr8:115414205 Conflicting classifications of pathogenicity Inborn genetic diseases
Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002913658RCV002926591
NM_014112.5(TRPS1):c.152C>T (p.Ser51Phe) SNV
Germline		 Chr8:115619946 Conflicting classifications of pathogenicity Inborn genetic diseases
Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002645558RCV003777586
NM_014112.5(TRPS1):c.3413C>T (p.Pro1138Leu) SNV
Germline		 Chr8:115414495 Conflicting classifications of pathogenicity Inborn genetic diseases
Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003367076RCV003778042
NM_014112.5(TRPS1):c.2500C>T (p.Gln834Ter) SNV
Germline		 Chr8:115587201 Pathogenic Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III		 Criteria Provided
Single Submitter

1 SubmittersRCV003785489
NM_014112.5(TRPS1):c.1417G>A (p.Gly473Arg) SNV
Germline		 Chr8:115604552 Conflicting classifications of pathogenicity Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV003783385RCV004366511
NM_014112.5(TRPS1):c.2097-2A>C SNV
Germline		 Chr8:115587606 Likely pathogenic Trichorhinophalangeal syndrome, type III
Trichorhinophalangeal dysplasia type I		 Criteria Provided
Single Submitter

1 SubmittersRCV003781673
NM_014112.5(TRPS1):c.1898C>A (p.Ser633Ter) SNV
Germline		 Chr8:115604071 Pathogenic Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III		 Criteria Provided
Single Submitter

1 SubmittersRCV003806108
NM_014112.5(TRPS1):c.1229G>A (p.Trp410Ter) SNV
Germline		 Chr8:115604740 Pathogenic Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III		 Criteria Provided
Single Submitter

1 SubmittersRCV003805538
NM_014112.5(TRPS1):c.2381G>A (p.Trp794Ter) SNV
Germline		 Chr8:115587320 Pathogenic Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III		 Criteria Provided
Single Submitter

1 SubmittersRCV003802915
NM_014112.5(TRPS1):c.2808C>G (p.Tyr936Ter) SNV
Germline		 Chr8:115418345 Pathogenic Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III		 Criteria Provided
Single Submitter

1 SubmittersRCV003801224
NM_014112.5(TRPS1):c.2506C>T (p.Gln836Ter) SNV
Germline		 Chr8:115587195 Pathogenic Trichorhinophalangeal dysplasia type I
Trichorhinophalangeal syndrome, type III		 Criteria Provided
Single Submitter

1 SubmittersRCV003808853