| NM_001371623.1(TCOF1):c.4388A>G (p.Lys1463Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003278918]|Microcephaly [RCV001252931]|Treacher Collins syndrome 1 [RCV000549966]|not provided [RCV001672874] |
Chr5:150398396 [GRCh38]
Chr5:149777959 [GRCh37]
Chr5:5q32 |
benign|likely benign|uncertain significance |
| NM_001371623.1(TCOF1):c.4360_4363del (p.Glu1454fs) |
deletion |
Treacher Collins syndrome 1 [RCV000654879]|not provided [RCV000522626] |
Chr5:150398365..150398368 [GRCh38]
Chr5:149777928..149777931 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.862C>T (p.Arg288Ter) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV000792512]|not provided [RCV000519807] |
Chr5:150372228 [GRCh38]
Chr5:149751791 [GRCh37]
Chr5:5q32 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001371623.1(TCOF1):c.4037G>T (p.Arg1346Leu) |
single nucleotide variant |
not provided [RCV000520154] |
Chr5:150396534 [GRCh38]
Chr5:149776097 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.4353dup (p.Asp1452fs) |
duplication |
not provided [RCV000520249] |
Chr5:150398354..150398355 [GRCh38]
Chr5:149777917..149777918 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001371623.1(TCOF1):c.985C>T (p.Gln329Ter) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV000004166] |
Chr5:150374288 [GRCh38]
Chr5:149753851 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.422dup (p.His141fs) |
duplication |
Treacher Collins syndrome 1 [RCV000004167] |
Chr5:150368758..150368759 [GRCh38]
Chr5:149748321..149748322 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.497_500del (p.Asn166fs) |
deletion |
Treacher Collins syndrome 1 [RCV000004168] |
Chr5:150368834..150368837 [GRCh38]
Chr5:149748397..149748400 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.4372_4376del (p.Lys1458fs) |
microsatellite |
Inborn genetic diseases [RCV002512736]|Treacher Collins syndrome 1 [RCV000004169]|Treacher Collins syndrome [RCV003319159]|not provided [RCV000598830] |
Chr5:150398373..150398377 [GRCh38]
Chr5:149777936..149777940 [GRCh37]
Chr5:5q32 |
pathogenic|not provided |
| NM_001371623.1(TCOF1):c.149A>G (p.Tyr50Cys) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV000004170]|not provided [RCV003886358] |
Chr5:150361196 [GRCh38]
Chr5:149740759 [GRCh37]
Chr5:5q32 |
pathogenic|likely pathogenic |
| NM_001371623.1(TCOF1):c.1639_1640del (p.Ser547fs) |
microsatellite |
TCOF1-related disorder [RCV003407273]|Treacher Collins syndrome 1 [RCV000004171] |
Chr5:150375485..150375486 [GRCh38]
Chr5:149755048..149755049 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.2962C>T (p.Arg988Ter) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV000004172] |
Chr5:150388004 [GRCh38]
Chr5:149767567 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.376_378+15del |
deletion |
Treacher Collins syndrome 1 [RCV000004173] |
Chr5:150367912..150367929 [GRCh38]
Chr5:149747475..149747492 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.4368del (p.Glu1457fs) |
deletion |
Treacher Collins syndrome 1 [RCV000004174] |
Chr5:150398369 [GRCh38]
Chr5:149777932 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.2146_2147del (p.Lys716fs) |
deletion |
Treacher Collins syndrome 1 [RCV000543785] |
Chr5:150376425..150376426 [GRCh38]
Chr5:149755988..149755989 [GRCh37]
Chr5:5q32 |
pathogenic |
| GRCh38/hg38 5q32(chr5:150365489-150381740)x3 |
copy number gain |
See cases [RCV000050738] |
Chr5:150365489..150381740 [GRCh38]
Chr5:149745052..149761303 [GRCh37]
Chr5:149725245..149741496 [NCBI36]
Chr5:5q32 |
pathogenic |
| GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3 |
copy number gain |
See cases [RCV000051193] |
Chr5:130860928..155321811 [GRCh38]
Chr5:130196621..154701371 [GRCh37]
Chr5:130224520..154681564 [NCBI36]
Chr5:5q23.3-33.2 |
pathogenic |
| GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3 |
copy number gain |
See cases [RCV000051863] |
Chr5:149714592..181272151 [GRCh38]
Chr5:149094155..180699152 [GRCh37]
Chr5:149074348..180631758 [NCBI36]
Chr5:5q32-35.3 |
pathogenic |
| GRCh38/hg38 5q32(chr5:150368321-150396843)x3 |
copy number gain |
See cases [RCV000051864] |
Chr5:150368321..150396843 [GRCh38]
Chr5:149747884..149776406 [GRCh37]
Chr5:149728077..149756599 [NCBI36]
Chr5:5q32 |
pathogenic |
| GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1 |
copy number loss |
See cases [RCV000053524] |
Chr5:106619588..156124387 [GRCh38]
Chr5:105955289..155551397 [GRCh37]
Chr5:105983188..155483975 [NCBI36]
Chr5:5q21.3-33.2 |
pathogenic |
| NM_001371623.1(TCOF1):c.1637_1640del (p.Glu546fs) |
microsatellite |
Treacher Collins syndrome 1 [RCV000114943] |
Chr5:150375485..150375488 [GRCh38]
Chr5:149755048..149755051 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.3107dup (p.Ser1036fs) |
duplication |
Treacher Collins syndrome 1 [RCV000114944] |
Chr5:150389946..150389947 [GRCh38]
Chr5:149769509..149769510 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.1578C>T (p.Pro526=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV001521224]|not provided [RCV001711207]|not specified [RCV000118603] |
Chr5:150375428 [GRCh38]
Chr5:149754991 [GRCh37]
Chr5:5q32 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001371623.1(TCOF1):c.162A>G (p.Gln54=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV000878911]|not provided [RCV001640099]|not specified [RCV000118604] |
Chr5:150361209 [GRCh38]
Chr5:149740772 [GRCh37]
Chr5:5q32 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001371623.1(TCOF1):c.1761G>T (p.Gly587=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV001521225]|not provided [RCV001533892]|not specified [RCV000118605] |
Chr5:150375777 [GRCh38]
Chr5:149755340 [GRCh37]
Chr5:5q32 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001371623.1(TCOF1):c.1842A>G (p.Ser614=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV001521226]|not provided [RCV001711208]|not specified [RCV000118606] |
Chr5:150375858 [GRCh38]
Chr5:149755421 [GRCh37]
Chr5:5q32 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001371623.1(TCOF1):c.1993G>C (p.Ala665Pro) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV001514709]|not provided [RCV001657752]|not specified [RCV000118607] |
Chr5:150376181 [GRCh38]
Chr5:149755744 [GRCh37]
Chr5:5q32 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001371623.1(TCOF1):c.2094A>G (p.Glu698=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV000533594]|not specified [RCV000118608] |
Chr5:150376282 [GRCh38]
Chr5:149755845 [GRCh37]
Chr5:5q32 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001371623.1(TCOF1):c.2245C>T (p.Pro749Ser) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV000878912]|not provided [RCV001689663]|not specified [RCV000118609] |
Chr5:150376525 [GRCh38]
Chr5:149756088 [GRCh37]
Chr5:5q32 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001371623.1(TCOF1):c.2660T>C (p.Val887Ala) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV001521227]|not provided [RCV001650970]|not specified [RCV000118610] |
Chr5:150379533 [GRCh38]
Chr5:149759096 [GRCh37]
Chr5:5q32 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001371623.1(TCOF1):c.2765C>T (p.Ser922Leu) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV000532227]|not specified [RCV000118611] |
Chr5:150379638 [GRCh38]
Chr5:149759201 [GRCh37]
Chr5:5q32 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001371623.1(TCOF1):c.3530C>G (p.Pro1177Arg) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV001517375]|not provided [RCV001689664]|not specified [RCV000118612] |
Chr5:150392717 [GRCh38]
Chr5:149772280 [GRCh37]
Chr5:5q32 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001371623.1(TCOF1):c.3604-3C>T |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV001521228]|not provided [RCV001610427]|not specified [RCV000118613] |
Chr5:150393369 [GRCh38]
Chr5:149772932 [GRCh37]
Chr5:5q32 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001371623.1(TCOF1):c.4053G>A (p.Ser1351=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV001087690]|not provided [RCV000864834]|not specified [RCV000118614] |
Chr5:150396550 [GRCh38]
Chr5:149776113 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001371623.1(TCOF1):c.4172C>T (p.Ala1391Val) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV001521229]|not provided [RCV001640100]|not specified [RCV000118615] |
Chr5:150396669 [GRCh38]
Chr5:149776232 [GRCh37]
Chr5:5q32 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001371623.1(TCOF1):c.4295G>C (p.Gly1432Ala) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV000556892]|not provided [RCV000993289]|not specified [RCV000118616] |
Chr5:150396792 [GRCh38]
Chr5:149776355 [GRCh37]
Chr5:5q32 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001371623.1(TCOF1):c.2656C>T (p.Gln886Ter) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003987414]|not provided [RCV000171388] |
Chr5:150379406 [GRCh38]
Chr5:149758969 [GRCh37]
Chr5:5q32 |
pathogenic|likely pathogenic|no classifications from unflagged records |
| NM_001371623.1(TCOF1):c.802G>T (p.Glu268Ter) |
single nucleotide variant |
not provided [RCV000579231] |
Chr5:150372168 [GRCh38]
Chr5:149751731 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001371623.1(TCOF1):c.2798G>A (p.Gly933Glu) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003645949]|not provided [RCV003221659] |
Chr5:150379671 [GRCh38]
Chr5:149759234 [GRCh37]
Chr5:5q32 |
uncertain significance |
| GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3 |
copy number gain |
See cases [RCV000138808] |
Chr5:129847794..153353546 [GRCh38]
Chr5:129183487..152733106 [GRCh37]
Chr5:129211386..152713299 [NCBI36]
Chr5:5q23.3-33.2 |
pathogenic |
| GRCh38/hg38 5q32-33.1(chr5:150356455-150688333)x3 |
copy number gain |
See cases [RCV000142762] |
Chr5:150356455..150688333 [GRCh38]
Chr5:149736018..150067895 [GRCh37]
Chr5:149716211..150048088 [NCBI36]
Chr5:5q32-33.1 |
uncertain significance |
| NM_000356.4(TCOF1):c.2485T>A (p.Ser829Thr) |
single nucleotide variant |
Treacher Collins Syndrome, Dominant [RCV000265275] |
Chr5:150379589 [GRCh38]
Chr5:149759152 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3623T>A (p.Met1208Lys) |
single nucleotide variant |
TCOF1-related disorder [RCV003932444]|Treacher Collins syndrome 1 [RCV000877497]|not provided [RCV001573921] |
Chr5:150393391 [GRCh38]
Chr5:149772954 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001135243.1(TCOF1):c.-106A>C |
single nucleotide variant |
Treacher Collins Syndrome, Dominant [RCV000259420] |
Chr5:150357641 [GRCh38]
Chr5:149737204 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.3531C>T (p.Pro1177=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV000190954]|not provided [RCV001657968] |
Chr5:150392718 [GRCh38]
Chr5:149772281 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.3603+64dup |
duplication |
Treacher Collins syndrome 1 [RCV000190955] |
Chr5:150392853..150392854 [GRCh38]
Chr5:149772416..149772417 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.3784+8A>G |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV000190956]|not provided [RCV003422091] |
Chr5:150393560 [GRCh38]
Chr5:149773123 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001371623.1(TCOF1):c.3945A>C (p.Ser1315=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV000190957]|not provided [RCV001562139] |
Chr5:150396442 [GRCh38]
Chr5:149776005 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.4298_4299delinsGA (p.Asp1433Gly) |
indel |
Treacher Collins syndrome 1 [RCV000190958] |
Chr5:150396795..150396796 [GRCh38]
Chr5:149776358..149776359 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.4374GAA[2] (p.Lys1461del) |
microsatellite |
Treacher Collins syndrome 1 [RCV000190959]|not provided [RCV001711488] |
Chr5:150398380..150398382 [GRCh38]
Chr5:149777943..149777945 [GRCh37]
Chr5:5q32 |
benign|uncertain significance |
| NM_001371623.1(TCOF1):c.4443+106G>T |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV000190960] |
Chr5:150398557 [GRCh38]
Chr5:149778120 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.4443+108C>A |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV000190961]|not provided [RCV004706622] |
Chr5:150398559 [GRCh38]
Chr5:149778122 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001135244.1(TCOF1):c.-59G>A |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV000190962] |
Chr5:150357688 [GRCh38]
Chr5:149737251 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1028G>A (p.Ser343Asn) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV000190963]|not provided [RCV000514346]|not specified [RCV000591432] |
Chr5:150374331 [GRCh38]
Chr5:149753894 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001371623.1(TCOF1):c.108+62_108+68del |
microsatellite |
Treacher Collins syndrome 1 [RCV000190964] |
Chr5:150357906..150357912 [GRCh38]
Chr5:149737469..149737475 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1083+39G>A |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV000190965]|not provided [RCV001668351] |
Chr5:150374425 [GRCh38]
Chr5:149753988 [GRCh37]
Chr5:5q32 |
benign |
| NM_001371623.1(TCOF1):c.1086G>A (p.Ala362=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV000190966] |
Chr5:150374619 [GRCh38]
Chr5:149754182 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.109-28T>C |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV000190967]|not provided [RCV004706623] |
Chr5:150361128 [GRCh38]
Chr5:149740691 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1242C>T (p.Ser414=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV000190968] |
Chr5:150374775 [GRCh38]
Chr5:149754338 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1278+60G>C |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV000190969]|not provided [RCV004705019] |
Chr5:150374871 [GRCh38]
Chr5:149754434 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001371623.1(TCOF1):c.1281G>A (p.Ala427=) |
single nucleotide variant |
TCOF1-related disorder [RCV003937679]|Treacher Collins syndrome 1 [RCV000190970]|not provided [RCV001572728]|not specified [RCV000194722] |
Chr5:150374956 [GRCh38]
Chr5:149754519 [GRCh37]
Chr5:5q32 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001371623.1(TCOF1):c.1854G>A (p.Ala618=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV000190971]|not provided [RCV000953957] |
Chr5:150375870 [GRCh38]
Chr5:149755433 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001371623.1(TCOF1):c.1953T>C (p.Thr651=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV000190972] |
Chr5:150376141 [GRCh38]
Chr5:149755704 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.2142+22C>T |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV000190973] |
Chr5:150376352 [GRCh38]
Chr5:149755915 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.2762C>T (p.Pro921Leu) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV000190974]|not provided [RCV000713810]|not specified [RCV000250907] |
Chr5:150379635 [GRCh38]
Chr5:149759198 [GRCh37]
Chr5:5q32 |
benign|likely benign|uncertain significance |
| NM_001371623.1(TCOF1):c.2859+26A>G |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV000190975] |
Chr5:150379758 [GRCh38]
Chr5:149759321 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.2859+3303G>A |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV000190976]|not provided [RCV004706624] |
Chr5:150383035 [GRCh38]
Chr5:149762598 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001371623.1(TCOF1):c.2859+3389G>T |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV000190977]|not provided [RCV003430739] |
Chr5:150383121 [GRCh38]
Chr5:149762684 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001371623.1(TCOF1):c.305-52A>G |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV000190978]|not provided [RCV001589058] |
Chr5:150367792 [GRCh38]
Chr5:149747355 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001371623.1(TCOF1):c.579G>A (p.Ala193=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV000190979]|not provided [RCV000713811]|not specified [RCV000251592] |
Chr5:150369542 [GRCh38]
Chr5:149749105 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001371623.1(TCOF1):c.386_387del (p.Thr129fs) |
deletion |
Treacher Collins syndrome 1 [RCV000192389] |
Chr5:150368722..150368723 [GRCh38]
Chr5:149748285..149748286 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_000356.3(TCOF1):c.4091_4093delAGA (p.Lys1367del) |
deletion |
not provided [RCV000224172] |
Chr5:150396822..150396824 [GRCh38]
Chr5:149776385..149776387 [GRCh37]
Chr5:5q32 |
benign |
| NM_001371623.1(TCOF1):c.1961C>T (p.Ala654Val) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002516222]|not provided [RCV000224247] |
Chr5:150376149 [GRCh38]
Chr5:149755712 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.3683C>T (p.Ser1228Phe) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV000626164] |
Chr5:150393451 [GRCh38]
Chr5:149773014 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1547C>T (p.Pro516Leu) |
single nucleotide variant |
TCOF1-related disorder [RCV003941077]|Treacher Collins syndrome 1 [RCV002538614]|not provided [RCV001690646] |
Chr5:150375397 [GRCh38]
Chr5:149754960 [GRCh37]
Chr5:5q32 |
benign|likely benign|uncertain significance |
| NM_001371623.1(TCOF1):c.289G>A (p.Glu97Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002569334]|Treacher Collins syndrome 1 [RCV001970763] |
Chr5:150364237 [GRCh38]
Chr5:149743800 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_000356.4(TCOF1):c.*23-10C>T |
single nucleotide variant |
Treacher Collins Syndrome, Dominant [RCV000286513] |
Chr5:150399800 [GRCh38]
Chr5:149779363 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1598C>T (p.Thr533Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004021990]|Treacher Collins syndrome 1 [RCV000709810] |
Chr5:150375448 [GRCh38]
Chr5:149755011 [GRCh37]
Chr5:5q32 |
uncertain significance|not provided |
| NM_000356.4(TCOF1):c.-39C>T |
single nucleotide variant |
Treacher Collins Syndrome, Dominant [RCV000274283] |
Chr5:150357708 [GRCh38]
Chr5:149737271 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1133C>T (p.Ala378Val) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV000525257]|not specified [RCV000613444] |
Chr5:150374666 [GRCh38]
Chr5:149754229 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001371623.1(TCOF1):c.4007A>G (p.Lys1336Arg) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV001088543]|not provided [RCV000546196]|not specified [RCV000251898] |
Chr5:150396504 [GRCh38]
Chr5:149776067 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001371623.1(TCOF1):c.3493G>C (p.Gly1165Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004668875]|Treacher Collins syndrome 1 [RCV001494269]|not provided [RCV000983903]|not specified [RCV000252237] |
Chr5:150392152 [GRCh38]
Chr5:149771715 [GRCh37]
Chr5:5q32 |
benign|likely benign|uncertain significance |
| NM_001371623.1(TCOF1):c.295G>A (p.Ala99Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004668874]|TCOF1-related disorder [RCV003891888]|Treacher Collins syndrome 1 [RCV000864274]|not provided [RCV001573709] |
Chr5:150364243 [GRCh38]
Chr5:149743806 [GRCh37]
Chr5:5q32 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001371623.1(TCOF1):c.2659-24_2659-20del |
microsatellite |
not specified [RCV000243026] |
Chr5:150379503..150379507 [GRCh38]
Chr5:149759066..149759070 [GRCh37]
Chr5:5q32 |
benign |
| NM_001371623.1(TCOF1):c.1083+12G>A |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003841992] |
Chr5:150374398 [GRCh38]
Chr5:149753961 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_000356.4(TCOF1):c.1912-5C>T |
single nucleotide variant |
Treacher Collins Syndrome, Dominant [RCV000266590] |
Chr5:150376418 [GRCh38]
Chr5:149755981 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2766G>A (p.Ser922=) |
single nucleotide variant |
TCOF1-related disorder [RCV004745357]|Treacher Collins syndrome 1 [RCV000542971] |
Chr5:150379639 [GRCh38]
Chr5:149759202 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001371623.1(TCOF1):c.3712G>A (p.Ala1238Thr) |
single nucleotide variant |
TCOF1-related disorder [RCV003922552]|Treacher Collins syndrome 1 [RCV000654881]|not provided [RCV001573257]|not specified [RCV000504476] |
Chr5:150393480 [GRCh38]
Chr5:149773043 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001371623.1(TCOF1):c.1120G>T (p.Ala374Ser) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV001085277]|not provided [RCV000425058] |
Chr5:150374653 [GRCh38]
Chr5:149754216 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001371623.1(TCOF1):c.1590G>A (p.Gly530=) |
single nucleotide variant |
TCOF1-related disorder [RCV003970027]|Treacher Collins syndrome 1 [RCV000654883]|not provided [RCV001613163] |
Chr5:150375440 [GRCh38]
Chr5:149755003 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001371623.1(TCOF1):c.2817A>T (p.Ser939=) |
single nucleotide variant |
Treacher Collins Syndrome, Dominant [RCV000317053]|Treacher Collins syndrome 1 [RCV002520348] |
Chr5:150379690 [GRCh38]
Chr5:149759253 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NC_000005.10:g.150357658T>G |
single nucleotide variant |
not provided [RCV001669137] |
Chr5:150357658 [GRCh38]
Chr5:149737221 [GRCh37]
Chr5:5q32 |
benign |
| NM_000356.4(TCOF1):c.1275A>G (p.Lys425=) |
single nucleotide variant |
Treacher Collins Syndrome, Dominant [RCV000378540] |
Chr5:150375356 [GRCh38]
Chr5:149754919 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_000356.4(TCOF1):c.634G>A (p.Val212Met) |
single nucleotide variant |
Treacher Collins Syndrome, Dominant [RCV000337691] |
Chr5:150369597 [GRCh38]
Chr5:149749160 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_000356.4(TCOF1):c.*241A>G |
single nucleotide variant |
Treacher Collins Syndrome, Dominant [RCV000338079] |
Chr5:150400028 [GRCh38]
Chr5:149779591 [GRCh37]
Chr5:5q33.1 |
likely benign |
| NM_001371623.1(TCOF1):c.*1C>T |
single nucleotide variant |
not provided [RCV001693696] |
Chr5:150399049 [GRCh38]
Chr5:149778612 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001371623.1(TCOF1):c.3628C>T (p.Pro1210Ser) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002058521]|not provided [RCV001356339] |
Chr5:150393396 [GRCh38]
Chr5:149772959 [GRCh37]
Chr5:5q32 |
benign|uncertain significance |
| NM_001371623.1(TCOF1):c.1629G>C (p.Glu543Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002951086]|Treacher Collins syndrome 1 [RCV003777995] |
Chr5:150375479 [GRCh38]
Chr5:149755042 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_000356.4(TCOF1):c.*141T>G |
single nucleotide variant |
Treacher Collins Syndrome, Dominant [RCV000339095] |
Chr5:150399928 [GRCh38]
Chr5:149779491 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.3620A>G (p.Tyr1207Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004021991]|Treacher Collins syndrome 1 [RCV002061269]|not provided [RCV000730229] |
Chr5:150393388 [GRCh38]
Chr5:149772951 [GRCh37]
Chr5:5q32 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001371623.1(TCOF1):c.3510C>T (p.His1170=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV000654880]|not provided [RCV001618635]|not specified [RCV001288510] |
Chr5:150392169 [GRCh38]
Chr5:149771732 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_000356.4(TCOF1):c.2739G>C (p.Ser913=) |
single nucleotide variant |
Treacher Collins Syndrome, Dominant [RCV000404878] |
Chr5:150388012 [GRCh38]
Chr5:149767575 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.-19C>T |
single nucleotide variant |
Treacher Collins Syndrome, Dominant [RCV000383851]|not provided [RCV004695848] |
Chr5:150357728 [GRCh38]
Chr5:149737291 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1278+14G>A |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002182099] |
Chr5:150374825 [GRCh38]
Chr5:149754388 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001371623.1(TCOF1):c.1671T>C (p.Asp557=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV000875092]|not provided [RCV001662321] |
Chr5:150375521 [GRCh38]
Chr5:149755084 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001371623.1(TCOF1):c.109-13T>C |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002072970]|not provided [RCV001640990] |
Chr5:150361143 [GRCh38]
Chr5:149740706 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001371623.1(TCOF1):c.1820A>G (p.Asn607Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV005281385]|TCOF1-related disorder [RCV003414134] |
Chr5:150375836 [GRCh38]
Chr5:149755399 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2842G>T (p.Ala948Ser) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV000535976]|not provided [RCV001718756]|not specified [RCV001662322] |
Chr5:150379715 [GRCh38]
Chr5:149759278 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001371623.1(TCOF1):c.3426C>T (p.Ser1142=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV000872591]|not provided [RCV001613164]|not specified [RCV000730232] |
Chr5:150392085 [GRCh38]
Chr5:149771648 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001371623.1(TCOF1):c.4458G>A (p.Glu1486=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV000870659]|not provided [RCV001653691] |
Chr5:150399036 [GRCh38]
Chr5:149778599 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001371623.1(TCOF1):c.1300C>T (p.Pro434Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002520347]|Treacher Collins syndrome 1 [RCV000950932]|not provided [RCV001662320] |
Chr5:150374975 [GRCh38]
Chr5:149754538 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001371623.1(TCOF1):c.1128C>A (p.Ala376=) |
single nucleotide variant |
TCOF1-related disorder [RCV003929285]|Treacher Collins syndrome 1 [RCV003646625] |
Chr5:150374661 [GRCh38]
Chr5:149754224 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_000356.4(TCOF1):c.3810G>A (p.Arg1270=) |
single nucleotide variant |
Treacher Collins Syndrome, Dominant [RCV000389789] |
Chr5:150396541 [GRCh38]
Chr5:149776104 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1229C>T (p.Ser410Leu) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV001087167]|not provided [RCV000514702]|not specified [RCV000734846] |
Chr5:150374762 [GRCh38]
Chr5:149754325 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001371623.1(TCOF1):c.4284G>T (p.Thr1428=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002520349]|not provided [RCV000864881] |
Chr5:150396781 [GRCh38]
Chr5:149776344 [GRCh37]
Chr5:5q32 |
benign|uncertain significance |
| NM_000356.4(TCOF1):c.3014A>G (p.Gln1005Arg) |
single nucleotide variant |
Treacher Collins Syndrome, Dominant [RCV000348055] |
Chr5:150391605 [GRCh38]
Chr5:149771168 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_000356.4(TCOF1):c.2692C>G (p.Pro898Ala) |
single nucleotide variant |
Treacher Collins Syndrome, Dominant [RCV000295800] |
Chr5:150387965 [GRCh38]
Chr5:149767528 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2970G>A (p.Ser990=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV000945713] |
Chr5:150388012 [GRCh38]
Chr5:149767575 [GRCh37]
Chr5:5q32 |
benign|uncertain significance |
| NM_000356.4(TCOF1):c.*430C>T |
single nucleotide variant |
Treacher Collins Syndrome, Dominant [RCV000369575] |
Chr5:150400217 [GRCh38]
Chr5:149779780 [GRCh37]
Chr5:5q33.1 |
likely benign |
| NM_001371623.1(TCOF1):c.1783G>A (p.Val595Ile) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV000654886]|not provided [RCV001573214]|not specified [RCV000730519] |
Chr5:150375799 [GRCh38]
Chr5:149755362 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001371623.1(TCOF1):c.999G>A (p.Gly333=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV000870522]|not provided [RCV001653690] |
Chr5:150374302 [GRCh38]
Chr5:149753865 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_000356.4(TCOF1):c.*391G>A |
single nucleotide variant |
Treacher Collins Syndrome, Dominant [RCV000298436] |
Chr5:150400178 [GRCh38]
Chr5:149779741 [GRCh37]
Chr5:5q33.1 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1708A>G (p.Lys570Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002643206]|Treacher Collins syndrome 1 [RCV002653602] |
Chr5:150375724 [GRCh38]
Chr5:149755287 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1789G>A (p.Val597Ile) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002011510] |
Chr5:150375805 [GRCh38]
Chr5:149755368 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_000356.4(TCOF1):c.-26T>A |
single nucleotide variant |
Treacher Collins Syndrome, Dominant [RCV000331760] |
Chr5:150357721 [GRCh38]
Chr5:149737284 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_000356.4(TCOF1):c.*390C>T |
single nucleotide variant |
Treacher Collins Syndrome, Dominant [RCV000395663] |
Chr5:150400177 [GRCh38]
Chr5:149779740 [GRCh37]
Chr5:5q33.1 |
likely benign |
| NM_000356.4(TCOF1):c.640-2034C>G |
single nucleotide variant |
Treacher Collins Syndrome, Dominant [RCV000396284] |
Chr5:150372140 [GRCh38]
Chr5:149751703 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.534C>T (p.Ser178=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV000950931]|not provided [RCV001643067] |
Chr5:150368871 [GRCh38]
Chr5:149748434 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001371623.1(TCOF1):c.3785-13TC[2] |
microsatellite |
Treacher Collins Syndrome, Dominant [RCV000261292] |
Chr5:150396269..150396272 [GRCh38]
Chr5:149775832..149775835 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2286_2287del (p.Ser764fs) |
deletion |
not provided [RCV000312983] |
Chr5:150376566..150376567 [GRCh38]
Chr5:149756129..149756130 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.1278+1G>A |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV000821693]|not provided [RCV000317388] |
Chr5:150374812 [GRCh38]
Chr5:149754375 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.*466dup |
duplication |
Treacher Collins Syndrome, Dominant [RCV000274001] |
Chr5:150400243..150400244 [GRCh38]
Chr5:149779806..149779807 [GRCh37]
Chr5:5q33.1 |
likely benign |
| NM_001371623.1(TCOF1):c.583C>T (p.Gln195Ter) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002283999] |
Chr5:150369546 [GRCh38]
Chr5:149749109 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001371623.1(TCOF1):c.4141G>T (p.Glu1381Ter) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV001270293] |
Chr5:150396638 [GRCh38]
Chr5:149776201 [GRCh37]
Chr5:5q32 |
pathogenic |
| GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 |
copy number gain |
not provided [RCV000487658] |
Chr5:94844077..178830410 [GRCh37]
Chr5:5q15-35.3 |
likely benign |
| NM_001371623.1(TCOF1):c.188G>A (p.Arg63Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003365436]|TCOF1-related disorder [RCV003900809]|Treacher Collins syndrome 1 [RCV003645889]|not provided [RCV001573989] |
Chr5:150364136 [GRCh38]
Chr5:149743699 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001371623.1(TCOF1):c.2575C>G (p.Gln859Glu) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV000490303]|not provided [RCV002225512] |
Chr5:150379325 [GRCh38]
Chr5:149758888 [GRCh37]
Chr5:5q32 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000356.4(TCOF1):c.*457T>G |
single nucleotide variant |
Treacher Collins Syndrome, Dominant [RCV000315042] |
Chr5:150400244 [GRCh38]
Chr5:149779807 [GRCh37]
Chr5:5q33.1 |
uncertain significance |
| NM_000356.4(TCOF1):c.*151C>T |
single nucleotide variant |
Treacher Collins Syndrome, Dominant [RCV000403593] |
Chr5:150399938 [GRCh38]
Chr5:149779501 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.4326GAA[2] (p.Lys1445del) |
microsatellite |
Treacher Collins syndrome 1 [RCV001080977]|not provided [RCV000224172] |
Chr5:150396822..150396824 [GRCh38]
Chr5:149776385..149776387 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_000356.4(TCOF1):c.*233C>T |
single nucleotide variant |
Treacher Collins Syndrome, Dominant [RCV000299541] |
Chr5:150400020 [GRCh38]
Chr5:149779583 [GRCh37]
Chr5:5q33.1 |
uncertain significance |
| NM_000356.4(TCOF1):c.3054G>A (p.Gln1018=) |
single nucleotide variant |
Treacher Collins Syndrome, Dominant [RCV000395729] |
Chr5:150391645 [GRCh38]
Chr5:149771208 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_000356.4(TCOF1):c.2759C>G (p.Ser920Cys) |
single nucleotide variant |
Treacher Collins Syndrome, Dominant [RCV000290685] |
Chr5:150388032 [GRCh38]
Chr5:149767595 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1034A>G (p.Glu345Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004965597]|TCOF1-related disorder [RCV003927933]|Treacher Collins syndrome 1 [RCV002065171]|not provided [RCV000591700] |
Chr5:150374337 [GRCh38]
Chr5:149753900 [GRCh37]
Chr5:5q32 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001371623.1(TCOF1):c.4358_4359del (p.Lys1453fs) |
deletion |
Treacher Collins syndrome 1 [RCV000703493]|not provided [RCV000598551] |
Chr5:150398365..150398366 [GRCh38]
Chr5:149777928..149777929 [GRCh37]
Chr5:5q32 |
pathogenic|likely pathogenic |
| NM_001371623.1(TCOF1):c.4132_4133del (p.Val1378fs) |
deletion |
Treacher Collins syndrome 1 [RCV003444062]|not provided [RCV000522799] |
Chr5:150396628..150396629 [GRCh38]
Chr5:149776191..149776192 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.1488+5G>A |
single nucleotide variant |
not provided [RCV000598957] |
Chr5:150375168 [GRCh38]
Chr5:149754731 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2000G>A (p.Arg667Gln) |
single nucleotide variant |
TCOF1-related disorder [RCV003953075]|Treacher Collins syndrome 1 [RCV000698046]|not provided [RCV000602849] |
Chr5:150376188 [GRCh38]
Chr5:149755751 [GRCh37]
Chr5:5q32 |
benign|likely benign|uncertain significance |
| NM_001371623.1(TCOF1):c.4099A>C (p.Lys1367Gln) |
single nucleotide variant |
TCOF1-related disorder [RCV003962719]|Treacher Collins syndrome 1 [RCV000902843]|not provided [RCV001558000]|not specified [RCV000591461] |
Chr5:150396596 [GRCh38]
Chr5:149776159 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001371623.1(TCOF1):c.503C>T (p.Thr168Met) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV000878235]|not provided [RCV001564472]|not specified [RCV000591480] |
Chr5:150368840 [GRCh38]
Chr5:149748403 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001371623.1(TCOF1):c.4418C>T (p.Pro1473Leu) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV001078497]|not provided [RCV000735060] |
Chr5:150398426 [GRCh38]
Chr5:149777989 [GRCh37]
Chr5:5q32 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001371623.1(TCOF1):c.2088T>G (p.Ser696Arg) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV000871007]|not provided [RCV001725190]|not specified [RCV000594441] |
Chr5:150376276 [GRCh38]
Chr5:149755839 [GRCh37]
Chr5:5q32 |
benign |
| NM_001371623.1(TCOF1):c.4409_4410del (p.Asp1469_Ser1470insTer) |
deletion |
Treacher Collins syndrome 1 [RCV000560133] |
Chr5:150398416..150398417 [GRCh38]
Chr5:149777979..149777980 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.3757_3760del (p.Ala1253fs) |
deletion |
not provided [RCV000414108] |
Chr5:150393522..150393525 [GRCh38]
Chr5:149773085..149773088 [GRCh37]
Chr5:5q32 |
pathogenic |
| NC_000005.10:g.(?_150396282)_(150399070_?)del |
deletion |
Treacher Collins syndrome 1 [RCV000556053] |
Chr5:150396282..150399070 [GRCh38]
Chr5:5q32 |
likely pathogenic |
| NM_001371623.1(TCOF1):c.305-291C>T |
single nucleotide variant |
not provided [RCV001564953] |
Chr5:150367553 [GRCh38]
Chr5:149747116 [GRCh37]
Chr5:5q32 |
likely benign |
| GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910)x3 |
copy number gain |
See cases [RCV000449349] |
Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3 |
pathogenic |
| NM_001371623.1(TCOF1):c.50A>G (p.His17Arg) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV000809896]|not provided [RCV000430961] |
Chr5:150357796 [GRCh38]
Chr5:149737359 [GRCh37]
Chr5:5q32 |
pathogenic|likely pathogenic |
| GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 |
copy number gain |
See cases [RCV000448245] |
Chr5:106716357..180687338 [GRCh37]
Chr5:5q21.3-35.3 |
pathogenic |
| NM_001371623.1(TCOF1):c.2140C>T (p.Gln714Ter) |
single nucleotide variant |
not provided [RCV000480820] |
Chr5:150376328 [GRCh38]
Chr5:149755891 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.3963_3964del (p.Glu1322fs) |
deletion |
not provided [RCV000481236] |
Chr5:150396460..150396461 [GRCh38]
Chr5:149776023..149776024 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.2675_2678delinsGCTGCCTTGGCT (p.Lys892fs) |
indel |
not provided [RCV000482553] |
Chr5:150379548..150379551 [GRCh38]
Chr5:149759111..149759114 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.4367_4368del (p.Lys1456fs) |
deletion |
not provided [RCV000484100] |
Chr5:150398369..150398370 [GRCh38]
Chr5:149777932..149777933 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.2285_2286del (p.Asp761_Ser762insTer) |
microsatellite |
Treacher Collins syndrome 1 [RCV000553951]|not provided [RCV001008035] |
Chr5:150376563..150376564 [GRCh38]
Chr5:149756126..149756127 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.1448_1451del (p.Asp483fs) |
deletion |
Treacher Collins syndrome 1 [RCV000654875]|not provided [RCV000486735] |
Chr5:150375120..150375123 [GRCh38]
Chr5:149754683..149754686 [GRCh37]
Chr5:5q32 |
pathogenic|likely pathogenic |
| NM_001371623.1(TCOF1):c.3973dup (p.Glu1325fs) |
duplication |
not provided [RCV000486897] |
Chr5:150396468..150396469 [GRCh38]
Chr5:149776031..149776032 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.827_844del (p.Gly276_Glu281del) |
deletion |
TCOF1-related disorder [RCV003925433]|Treacher Collins syndrome 1 [RCV001089101]|not provided [RCV000514686]|not specified [RCV000498859] |
Chr5:150372183..150372200 [GRCh38]
Chr5:149751746..149751763 [GRCh37]
Chr5:5q32 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001371623.1(TCOF1):c.1923_1924dup (p.Lys642fs) |
duplication |
not provided [RCV000497438] |
Chr5:150376110..150376111 [GRCh38]
Chr5:149755673..149755674 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.1693G>T (p.Ala565Ser) |
single nucleotide variant |
not provided [RCV000498010] |
Chr5:150375543 [GRCh38]
Chr5:149755106 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1705G>A (p.Glu569Lys) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV000502683] |
Chr5:150375721 [GRCh38]
Chr5:149755284 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001371623.1(TCOF1):c.1990C>T (p.Gln664Ter) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV001387224]|not provided [RCV000498474] |
Chr5:150376178 [GRCh38]
Chr5:149755741 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.3031C>T (p.Gln1011Ter) |
single nucleotide variant |
not provided [RCV000498499] |
Chr5:150388073 [GRCh38]
Chr5:149767636 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.4368dup (p.Glu1457fs) |
duplication |
Treacher Collins syndrome 1 [RCV000500784] |
Chr5:150398368..150398369 [GRCh38]
Chr5:149777931..149777932 [GRCh37]
Chr5:5q32 |
pathogenic |
| GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 |
copy number loss |
See cases [RCV000511978] |
Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2 |
pathogenic |
| GRCh37/hg19 5q32(chr5:149731885-149738613)x1 |
copy number loss |
See cases [RCV000511823] |
Chr5:149731885..149738613 [GRCh37]
Chr5:5q32 |
pathogenic |
| GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 |
copy number gain |
See cases [RCV000512039] |
Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3 |
pathogenic |
| GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) |
copy number gain |
See cases [RCV000510723] |
Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3 |
pathogenic |
| NC_000005.9:g.(?_86400000)_(154000000_?)del |
deletion |
Familial adenomatous polyposis 1 [RCV004561496]|Hereditary cancer-predisposing syndrome [RCV000554476] |
Chr5:86400000..154000000 [GRCh37]
Chr5:5q14.3-33.2 |
pathogenic |
| NM_001371623.1(TCOF1):c.2796_2797del (p.Gly933fs) |
deletion |
Treacher Collins syndrome 1 [RCV000557664]|not provided [RCV001008793] |
Chr5:150379669..150379670 [GRCh38]
Chr5:149759232..149759233 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.2975G>C (p.Ser992Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003260507] |
Chr5:150388017 [GRCh38]
Chr5:149767580 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.641G>A (p.Gly214Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003252354] |
Chr5:150372007 [GRCh38]
Chr5:149751570 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.4023G>A (p.Lys1341=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV000654885]|not provided [RCV001672922] |
Chr5:150396520 [GRCh38]
Chr5:149776083 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001371623.1(TCOF1):c.122C>T (p.Ala41Val) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV001080521]|not provided [RCV000440888]|not specified [RCV000193683] |
Chr5:150361169 [GRCh38]
Chr5:149740732 [GRCh37]
Chr5:5q32 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001371623.1(TCOF1):c.2727A>G (p.Lys909=) |
single nucleotide variant |
not provided [RCV000731336] |
Chr5:150379600 [GRCh38]
Chr5:149759163 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.449A>G (p.Asn150Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002534214]|TCOF1-related disorder [RCV003953208]|Treacher Collins syndrome 1 [RCV000654874] |
Chr5:150368786 [GRCh38]
Chr5:149748349 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001371623.1(TCOF1):c.3133dup (p.Glu1045fs) |
duplication |
Treacher Collins syndrome 1 [RCV000654876] |
Chr5:150389971..150389972 [GRCh38]
Chr5:149769534..149769535 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.2795C>G (p.Ser932Ter) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV000654877] |
Chr5:150379668 [GRCh38]
Chr5:149759231 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.1358dup (p.Ala454fs) |
duplication |
Treacher Collins syndrome 1 [RCV000654878] |
Chr5:150375029..150375030 [GRCh38]
Chr5:149754592..149754593 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.3339G>A (p.Gln1113=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV000654884]|not provided [RCV001644736]|not specified [RCV001288509] |
Chr5:150391998 [GRCh38]
Chr5:149771561 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NC_000005.10:g.(?_150387882)_(150399068_?)del |
deletion |
Treacher Collins syndrome 1 [RCV000654887] |
Chr5:150387882..150399068 [GRCh38]
Chr5:149767445..149778631 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.835A>G (p.Ser279Gly) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV000686511] |
Chr5:150372201 [GRCh38]
Chr5:149751764 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.635_636del (p.Val212fs) |
deletion |
not provided [RCV000659035] |
Chr5:150369597..150369598 [GRCh38]
Chr5:149749160..149749161 [GRCh37]
Chr5:5q32 |
pathogenic|likely pathogenic |
| NM_001371623.1(TCOF1):c.962G>A (p.Gly321Glu) |
single nucleotide variant |
not provided [RCV000659036] |
Chr5:150374265 [GRCh38]
Chr5:149753828 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3886A>G (p.Ile1296Val) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV000700378] |
Chr5:150396383 [GRCh38]
Chr5:149775946 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NC_000005.10:g.(?_150399002)_(150399068_?)del |
deletion |
Treacher Collins syndrome 1 [RCV000708430] |
Chr5:150399002..150399068 [GRCh38]
Chr5:149778565..149778631 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001371623.1(TCOF1):c.1377_1378del (p.Gly460fs) |
deletion |
Treacher Collins syndrome 1 [RCV000697953] |
Chr5:150375052..150375053 [GRCh38]
Chr5:149754615..149754616 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.1379G>T (p.Gly460Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004026397]|Treacher Collins syndrome 1 [RCV000697203]|not provided [RCV004760726] |
Chr5:150375054 [GRCh38]
Chr5:149754617 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.4221dup (p.Ser1408fs) |
duplication |
Treacher Collins syndrome 1 [RCV000698090]|not provided [RCV001559961] |
Chr5:150396714..150396715 [GRCh38]
Chr5:149776277..149776278 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.4361A>G (p.Glu1454Gly) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV000706328]|not provided [RCV004797864] |
Chr5:150398369 [GRCh38]
Chr5:149777932 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2556G>T (p.Lys852Asn) |
single nucleotide variant |
not provided [RCV001547626] |
Chr5:150379306 [GRCh38]
Chr5:149758869 [GRCh37]
Chr5:5q32 |
uncertain significance |
| GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 |
copy number gain |
not provided [RCV000744323] |
Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3 |
pathogenic |
| GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 |
copy number gain |
not provided [RCV000744317] |
Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3 |
pathogenic |
| NM_001371623.1(TCOF1):c.378+73A>C |
single nucleotide variant |
not provided [RCV001581836] |
Chr5:150367990 [GRCh38]
Chr5:149747553 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1029C>T (p.Ser343=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV005094837]|not provided [RCV001585516] |
Chr5:150374332 [GRCh38]
Chr5:149753895 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1390G>A (p.Ala464Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004029890]|TCOF1-related disorder [RCV003916027]|Treacher Collins syndrome 1 [RCV000960651]|not provided [RCV001655651] |
Chr5:150375065 [GRCh38]
Chr5:149754628 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001371623.1(TCOF1):c.4248C>T (p.Asp1416=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV000872432]|not provided [RCV001619853] |
Chr5:150396745 [GRCh38]
Chr5:149776308 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001371623.1(TCOF1):c.961G>A (p.Gly321Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002540921]|Treacher Collins syndrome 1 [RCV002542149]|not provided [RCV000917278] |
Chr5:150374264 [GRCh38]
Chr5:149753827 [GRCh37]
Chr5:5q32 |
benign|likely benign|uncertain significance |
| NM_001371623.1(TCOF1):c.2248A>G (p.Thr750Ala) |
single nucleotide variant |
TCOF1-related disorder [RCV003965760]|Treacher Collins syndrome 1 [RCV000873506] |
Chr5:150376528 [GRCh38]
Chr5:149756091 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.911C>T (p.Ser304Leu) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003106234]|not provided [RCV001569865] |
Chr5:150374214 [GRCh38]
Chr5:149753777 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.566-130T>C |
single nucleotide variant |
not provided [RCV001581802] |
Chr5:150369399 [GRCh38]
Chr5:149748962 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.531C>T (p.Gly177=) |
single nucleotide variant |
not provided [RCV001566685] |
Chr5:150368868 [GRCh38]
Chr5:149748431 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.4444-132C>A |
single nucleotide variant |
not provided [RCV001709204] |
Chr5:150398890 [GRCh38]
Chr5:149778453 [GRCh37]
Chr5:5q32 |
benign |
| NM_001371623.1(TCOF1):c.2332C>T (p.Pro778Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004030092]|TCOF1-related disorder [RCV003928631]|Treacher Collins syndrome 1 [RCV000983916]|not provided [RCV001683702] |
Chr5:150376612 [GRCh38]
Chr5:149756175 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001371623.1(TCOF1):c.2188C>T (p.Pro730Ser) |
single nucleotide variant |
TCOF1-related disorder [RCV003978141]|Treacher Collins syndrome 1 [RCV002066243]|Treacher Collins syndrome [RCV005359695]|not provided [RCV000946111]|not specified [RCV001724191] |
Chr5:150376468 [GRCh38]
Chr5:149756031 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001371623.1(TCOF1):c.3168G>A (p.Glu1056=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002066265]|not provided [RCV000950531] |
Chr5:150390008 [GRCh38]
Chr5:149769571 [GRCh37]
Chr5:5q32 |
benign |
| NM_001371623.1(TCOF1):c.2181C>A (p.Ala727=) |
single nucleotide variant |
not provided [RCV000950564] |
Chr5:150376461 [GRCh38]
Chr5:149756024 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1549T>C (p.Leu517=) |
single nucleotide variant |
not provided [RCV000906339] |
Chr5:150375399 [GRCh38]
Chr5:149754962 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.2039C>T (p.Pro680Leu) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002548456] |
Chr5:150376227 [GRCh38]
Chr5:149755790 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.639+9C>T |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002064514] |
Chr5:150369611 [GRCh38]
Chr5:149749174 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1714T>C (p.Leu572=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV000945610]|not provided [RCV001707859] |
Chr5:150375730 [GRCh38]
Chr5:149755293 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001371623.1(TCOF1):c.2633AGG[2] (p.Glu880del) |
microsatellite |
TCOF1-related disorder [RCV004746172]|Treacher Collins syndrome 1 [RCV002066260]|not provided [RCV000949198] |
Chr5:150379382..150379384 [GRCh38]
Chr5:149758945..149758947 [GRCh37]
Chr5:5q32 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001371623.1(TCOF1):c.3298-7G>A |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002547193] |
Chr5:150391950 [GRCh38]
Chr5:149771513 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.735G>C (p.Val245=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002544970] |
Chr5:150372101 [GRCh38]
Chr5:149751664 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.676T>C (p.Ser226Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002536821]|Treacher Collins syndrome 1 [RCV003530113]|not provided [RCV000880542] |
Chr5:150372042 [GRCh38]
Chr5:149751605 [GRCh37]
Chr5:5q32 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001371623.1(TCOF1):c.3352C>T (p.Gln1118Ter) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV000856680] |
Chr5:150392011 [GRCh38]
Chr5:149771574 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.264G>A (p.Ser88=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002545949] |
Chr5:150364212 [GRCh38]
Chr5:149743775 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.4419G>A (p.Pro1473=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV005092682] |
Chr5:150398427 [GRCh38]
Chr5:149777990 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.2659-18_2659-8del |
deletion |
Treacher Collins syndrome 1 [RCV001447080] |
Chr5:150379514..150379524 [GRCh38]
Chr5:149759077..149759087 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.827G>A (p.Gly276Glu) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002065449]|not provided [RCV000878789] |
Chr5:150372193 [GRCh38]
Chr5:149751756 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001371623.1(TCOF1):c.2718C>G (p.Ser906=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003768684] |
Chr5:150379591 [GRCh38]
Chr5:149759154 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1600C>G (p.Pro534Ala) |
single nucleotide variant |
not provided [RCV000915215] |
Chr5:150375450 [GRCh38]
Chr5:149755013 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.3594G>A (p.Ala1198=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002064693]|not provided [RCV000872120] |
Chr5:150392781 [GRCh38]
Chr5:149772344 [GRCh37]
Chr5:5q32 |
benign |
| NM_001371623.1(TCOF1):c.2395G>T (p.Ala799Ser) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV000877902]|not provided [RCV001692315] |
Chr5:150378959 [GRCh38]
Chr5:149758522 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001371623.1(TCOF1):c.3538A>T (p.Thr1180Ser) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002066287]|not provided [RCV000951714] |
Chr5:150392725 [GRCh38]
Chr5:149772288 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001371623.1(TCOF1):c.723C>A (p.Ala241=) |
single nucleotide variant |
TCOF1-related disorder [RCV003983275]|not provided [RCV000917081] |
Chr5:150372089 [GRCh38]
Chr5:149751652 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1269G>A (p.Ala423=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV000874964]|not provided [RCV001638012] |
Chr5:150374802 [GRCh38]
Chr5:149754365 [GRCh37]
Chr5:5q32 |
benign |
| NM_001371623.1(TCOF1):c.3791_3792del (p.Lys1264fs) |
deletion |
Treacher Collins syndrome 1 [RCV000815237] |
Chr5:150396286..150396287 [GRCh38]
Chr5:149775849..149775850 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.4364_4368del (p.Lys1455fs) |
deletion |
Treacher Collins syndrome 1 [RCV000818305] |
Chr5:150398369..150398373 [GRCh38]
Chr5:149777932..149777936 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.3689C>T (p.Pro1230Leu) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV000819068] |
Chr5:150393457 [GRCh38]
Chr5:149773020 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.4374GAA[1] (p.Lys1460_Lys1461del) |
microsatellite |
Treacher Collins syndrome 1 [RCV000821678] |
Chr5:150398380..150398385 [GRCh38]
Chr5:149777943..149777948 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1560dup (p.Ala521fs) |
duplication |
Treacher Collins syndrome 1 [RCV000799345] |
Chr5:150375409..150375410 [GRCh38]
Chr5:149754972..149754973 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.187C>T (p.Arg63Trp) |
single nucleotide variant |
TCOF1-related disorder [RCV003965591]|Treacher Collins syndrome 1 [RCV000798176] |
Chr5:150364135 [GRCh38]
Chr5:149743698 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001371623.1(TCOF1):c.3604-14A>G |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002068565]|not provided [RCV000840235] |
Chr5:150393358 [GRCh38]
Chr5:149772921 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001371623.1(TCOF1):c.3016G>A (p.Val1006Met) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV000801757] |
Chr5:150388058 [GRCh38]
Chr5:149767621 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2093A>T (p.Glu698Val) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV000806854] |
Chr5:150376281 [GRCh38]
Chr5:149755844 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.378+1G>A |
single nucleotide variant |
TCOF1-related disorder [RCV004723183]|Treacher Collins syndrome 1 [RCV000792464] |
Chr5:150367918 [GRCh38]
Chr5:149747481 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001371623.1(TCOF1):c.42C>G (p.Ile14Met) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV001007577]|not provided [RCV001585918] |
Chr5:150357788 [GRCh38]
Chr5:149737351 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.646_650del (p.Pro216fs) |
deletion |
not provided [RCV001090381] |
Chr5:150372012..150372016 [GRCh38]
Chr5:149751575..149751579 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.2353del (p.Ser784_Val785insTer) |
deletion |
Treacher Collins syndrome 1 [RCV000798536] |
Chr5:150378917 [GRCh38]
Chr5:149758480 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.4064del (p.Pro1355fs) |
deletion |
Treacher Collins syndrome 1 [RCV000987622] |
Chr5:150396560 [GRCh38]
Chr5:149776123 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.*22+204T>C |
single nucleotide variant |
not provided [RCV001581889] |
Chr5:150399274 [GRCh38]
Chr5:149778837 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.3625del (p.Thr1209fs) |
deletion |
Treacher Collins syndrome 1 [RCV000809513] |
Chr5:150393393 [GRCh38]
Chr5:149772956 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.866G>A (p.Ser289Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004030057]|TCOF1-related disorder [RCV004746188]|Treacher Collins syndrome 1 [RCV000981767]|not provided [RCV001615090] |
Chr5:150372232 [GRCh38]
Chr5:149751795 [GRCh37]
Chr5:5q32 |
benign|likely benign|uncertain significance |
| NM_001371623.1(TCOF1):c.3091del (p.Arg1030_Ile1031insTer) |
deletion |
Treacher Collins syndrome 1 [RCV001043546] |
Chr5:150389930 [GRCh38]
Chr5:149769493 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.4087AAG[4] (p.Lys1367del) |
microsatellite |
TCOF1-related disorder [RCV003918613]|Treacher Collins syndrome 1 [RCV000987623]|not provided [RCV001732005] |
Chr5:150396584..150396586 [GRCh38]
Chr5:149776147..149776149 [GRCh37]
Chr5:5q32 |
benign|likely benign|uncertain significance |
| NM_001371623.1(TCOF1):c.4303_4307del (p.Ser1435fs) |
deletion |
not provided [RCV001009250] |
Chr5:150396797..150396801 [GRCh38]
Chr5:149776360..149776364 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001371623.1(TCOF1):c.4139dup (p.Glu1381fs) |
duplication |
not provided [RCV001008509] |
Chr5:150396632..150396633 [GRCh38]
Chr5:149776195..149776196 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.1802C>A (p.Ala601Asp) |
single nucleotide variant |
not provided [RCV004812835] |
Chr5:150375818 [GRCh38]
Chr5:149755381 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2384del (p.Ala795fs) |
deletion |
Treacher Collins syndrome 1 [RCV001223862] |
Chr5:150378948 [GRCh38]
Chr5:149758511 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.3301G>A (p.Asp1101Asn) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV001221768] |
Chr5:150391960 [GRCh38]
Chr5:149771523 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2361A>C (p.Lys787Asn) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV001211323] |
Chr5:150378925 [GRCh38]
Chr5:149758488 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.89T>G (p.Val30Gly) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV001233899] |
Chr5:150357835 [GRCh38]
Chr5:149737398 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001371623.1(TCOF1):c.2614GAG[2] (p.Glu874del) |
microsatellite |
not provided [RCV003318274] |
Chr5:150379364..150379366 [GRCh38]
Chr5:149758927..149758929 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2490_2499del (p.Val831fs) |
deletion |
not provided [RCV001008153] |
Chr5:150379239..150379248 [GRCh38]
Chr5:149758802..149758811 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.870+302C>A |
single nucleotide variant |
not provided [RCV001550835] |
Chr5:150372538 [GRCh38]
Chr5:149752101 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1124C>T (p.Ser375Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004039408]|TCOF1-related disorder [RCV003399384]|Treacher Collins syndrome 1 [RCV001866045]|not provided [RCV001573330] |
Chr5:150374657 [GRCh38]
Chr5:149754220 [GRCh37]
Chr5:5q32 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001371623.1(TCOF1):c.305-256G>A |
single nucleotide variant |
not provided [RCV001577730] |
Chr5:150367588 [GRCh38]
Chr5:149747151 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.3298-8C>T |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003106578] |
Chr5:150391949 [GRCh38]
Chr5:149771512 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1228T>C (p.Ser410Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002568985]|not provided [RCV001552462] |
Chr5:150374761 [GRCh38]
Chr5:149754324 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1091C>T (p.Ala364Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003275438] |
Chr5:150374624 [GRCh38]
Chr5:149754187 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2859+49G>A |
single nucleotide variant |
not provided [RCV001619094] |
Chr5:150379781 [GRCh38]
Chr5:149759344 [GRCh37]
Chr5:5q32 |
benign |
| NC_000005.10:g.150357401C>T |
single nucleotide variant |
not provided [RCV001678549] |
Chr5:150357401 [GRCh38]
Chr5:149736964 [GRCh37]
Chr5:5q32 |
benign |
| NM_001371623.1(TCOF1):c.337C>A (p.Leu113Met) |
single nucleotide variant |
not provided [RCV001568702] |
Chr5:150367876 [GRCh38]
Chr5:149747439 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.600C>T (p.Ser200=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002072077]|not provided [RCV001555598] |
Chr5:150369563 [GRCh38]
Chr5:149749126 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1968C>T (p.Val656=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002070470]|not provided [RCV001596488] |
Chr5:150376156 [GRCh38]
Chr5:149755719 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.2859+4010A>G |
single nucleotide variant |
not provided [RCV001674116] |
Chr5:150383742 [GRCh38]
Chr5:149763305 [GRCh37]
Chr5:5q32 |
benign |
| NM_001371623.1(TCOF1):c.304+161C>T |
single nucleotide variant |
not provided [RCV001691060] |
Chr5:150364413 [GRCh38]
Chr5:149743976 [GRCh37]
Chr5:5q32 |
benign |
| NM_001371623.1(TCOF1):c.1704+77C>T |
single nucleotide variant |
not provided [RCV001550771] |
Chr5:150375631 [GRCh38]
Chr5:149755194 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.378+248G>A |
single nucleotide variant |
not provided [RCV001586190] |
Chr5:150368165 [GRCh38]
Chr5:149747728 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.4443+120G>C |
single nucleotide variant |
not provided [RCV001562213] |
Chr5:150398571 [GRCh38]
Chr5:149778134 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.305-36C>A |
single nucleotide variant |
not provided [RCV001557345] |
Chr5:150367808 [GRCh38]
Chr5:149747371 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.*22+250A>G |
single nucleotide variant |
not provided [RCV001577825] |
Chr5:150399320 [GRCh38]
Chr5:149778883 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.639+244C>T |
single nucleotide variant |
not provided [RCV001694197] |
Chr5:150369846 [GRCh38]
Chr5:149749409 [GRCh37]
Chr5:5q32 |
benign |
| NM_001371623.1(TCOF1):c.1704+68C>T |
single nucleotide variant |
not provided [RCV001558646] |
Chr5:150375622 [GRCh38]
Chr5:149755185 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.379-184A>G |
single nucleotide variant |
not provided [RCV001558694] |
Chr5:150368532 [GRCh38]
Chr5:149748095 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.4346-139C>T |
single nucleotide variant |
not provided [RCV001656627] |
Chr5:150398215 [GRCh38]
Chr5:149777778 [GRCh37]
Chr5:5q32 |
benign |
| NM_001371623.1(TCOF1):c.1059G>A (p.Thr353=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002072356]|not provided [RCV001592644] |
Chr5:150374362 [GRCh38]
Chr5:149753925 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.3518-31G>A |
single nucleotide variant |
not provided [RCV001676964] |
Chr5:150392674 [GRCh38]
Chr5:149772237 [GRCh37]
Chr5:5q32 |
benign |
| NM_001371623.1(TCOF1):c.4393G>C (p.Ala1465Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003284372]|Treacher Collins syndrome 1 [RCV003530195]|not provided [RCV001541873] |
Chr5:150398401 [GRCh38]
Chr5:149777964 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001371623.1(TCOF1):c.2316G>T (p.Glu772Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV003275808] |
Chr5:150376596 [GRCh38]
Chr5:149756159 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.651A>G (p.Ser217=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV000955080] |
Chr5:150372017 [GRCh38]
Chr5:149751580 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.640-7G>T |
single nucleotide variant |
not provided [RCV000952149] |
Chr5:150371999 [GRCh38]
Chr5:149751562 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1217G>A (p.Arg406Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004029834]|TCOF1-related disorder [RCV003925953]|Treacher Collins syndrome 1 [RCV000952195]|not provided [RCV001544922] |
Chr5:150374750 [GRCh38]
Chr5:149754313 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1552G>A (p.Gly518Arg) |
single nucleotide variant |
TCOF1-related disorder [RCV004746177]|Treacher Collins syndrome 1 [RCV000987621]|not provided [RCV000954332] |
Chr5:150375402 [GRCh38]
Chr5:149754965 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1361C>T (p.Ala454Val) |
single nucleotide variant |
TCOF1-related disorder [RCV004746189]|Treacher Collins syndrome 1 [RCV000983898]|not provided [RCV001577131] |
Chr5:150375036 [GRCh38]
Chr5:149754599 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.3241G>A (p.Ala1081Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002540145]|Treacher Collins syndrome 1 [RCV002065628]|not provided [RCV000896238] |
Chr5:150391601 [GRCh38]
Chr5:149771164 [GRCh37]
Chr5:5q32 |
benign|likely benign|uncertain significance |
| NM_001371623.1(TCOF1):c.566-9G>A |
single nucleotide variant |
not provided [RCV000886094] |
Chr5:150369520 [GRCh38]
Chr5:149749083 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1166C>T (p.Ala389Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004029942]|Treacher Collins syndrome 1 [RCV003645879] |
Chr5:150374699 [GRCh38]
Chr5:149754262 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.2151T>A (p.Ser717=) |
single nucleotide variant |
TCOF1-related disorder [RCV003942977]|Treacher Collins syndrome 1 [RCV000945372]|not provided [RCV001595057] |
Chr5:150376431 [GRCh38]
Chr5:149755994 [GRCh37]
Chr5:5q32 |
benign |
| NM_001371623.1(TCOF1):c.4182C>T (p.Asp1394=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV005092652] |
Chr5:150396679 [GRCh38]
Chr5:149776242 [GRCh37]
Chr5:5q32 |
benign |
| NM_001371623.1(TCOF1):c.2000G>C (p.Arg667Pro) |
single nucleotide variant |
TCOF1-related disorder [RCV003908291]|Treacher Collins syndrome 1 [RCV000873056] |
Chr5:150376188 [GRCh38]
Chr5:149755751 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1269G>C (p.Ala423=) |
single nucleotide variant |
not provided [RCV000897918] |
Chr5:150374802 [GRCh38]
Chr5:149754365 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1723A>G (p.Ile575Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004669179]|Treacher Collins syndrome 1 [RCV000954046]|not provided [RCV001672985] |
Chr5:150375739 [GRCh38]
Chr5:149755302 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001371623.1(TCOF1):c.1845G>A (p.Ser615=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV001498386] |
Chr5:150375861 [GRCh38]
Chr5:149755424 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.630A>G (p.Thr210=) |
single nucleotide variant |
TCOF1-related disorder [RCV003943041]|Treacher Collins syndrome 1 [RCV002066299]|not provided [RCV000951966] |
Chr5:150369593 [GRCh38]
Chr5:149749156 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001371623.1(TCOF1):c.4107G>A (p.Gly1369=) |
single nucleotide variant |
not provided [RCV000908984] |
Chr5:150396604 [GRCh38]
Chr5:149776167 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.520G>T (p.Glu174Ter) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV001219859] |
Chr5:150368857 [GRCh38]
Chr5:149748420 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.539C>T (p.Pro180Leu) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV001208828] |
Chr5:150368876 [GRCh38]
Chr5:149748439 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3053G>T (p.Arg1018Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004029626]|Treacher Collins syndrome 1 [RCV001469766]|not provided [RCV003442132] |
Chr5:150389893 [GRCh38]
Chr5:149769456 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001371623.1(TCOF1):c.1923C>T (p.Thr641=) |
single nucleotide variant |
TCOF1-related disorder [RCV003895452]|Treacher Collins syndrome 1 [RCV005092637] |
Chr5:150376111 [GRCh38]
Chr5:149755674 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1545G>T (p.Gly515=) |
single nucleotide variant |
TCOF1-related disorder [RCV003957935]|Treacher Collins syndrome 1 [RCV001438554] |
Chr5:150375395 [GRCh38]
Chr5:149754958 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.4079C>T (p.Pro1360Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003243389]|Treacher Collins syndrome 1 [RCV001858774]|not provided [RCV000993288] |
Chr5:150396576 [GRCh38]
Chr5:149776139 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3184-201C>T |
single nucleotide variant |
not provided [RCV001569588] |
Chr5:150391343 [GRCh38]
Chr5:149770906 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.165-115G>A |
single nucleotide variant |
not provided [RCV001569681] |
Chr5:150363998 [GRCh38]
Chr5:149743561 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.378+74G>T |
single nucleotide variant |
not provided [RCV001569703] |
Chr5:150367991 [GRCh38]
Chr5:149747554 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1681C>G (p.Pro561Ala) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002573174]|not provided [RCV001562481] |
Chr5:150375531 [GRCh38]
Chr5:149755094 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.379-179T>G |
single nucleotide variant |
not provided [RCV001562835] |
Chr5:150368537 [GRCh38]
Chr5:149748100 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.630_631insCTG (p.Thr210_Asp211insLeu) |
insertion |
Treacher Collins syndrome 1 [RCV000987619] |
Chr5:150369593..150369594 [GRCh38]
Chr5:149749156..149749157 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.633_634del (p.Val212fs) |
deletion |
Treacher Collins syndrome 1 [RCV000987620] |
Chr5:150369596..150369597 [GRCh38]
Chr5:149749159..149749160 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.3070A>G (p.Met1024Val) |
single nucleotide variant |
not provided [RCV003231710] |
Chr5:150389910 [GRCh38]
Chr5:149769473 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3518-3C>T |
single nucleotide variant |
TCOF1-related disorder [RCV003948664]|not provided [RCV001669374] |
Chr5:150392702 [GRCh38]
Chr5:149772265 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001371623.1(TCOF1):c.633C>T (p.Asp211=) |
single nucleotide variant |
TCOF1-related disorder [RCV003900811]|Treacher Collins syndrome 1 [RCV003530200]|not provided [RCV001576297] |
Chr5:150369596 [GRCh38]
Chr5:149749159 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1979G>A (p.Arg660Gln) |
single nucleotide variant |
not provided [RCV001555656] |
Chr5:150376167 [GRCh38]
Chr5:149755730 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.378+39T>G |
single nucleotide variant |
not provided [RCV001550646] |
Chr5:150367956 [GRCh38]
Chr5:149747519 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.2658+30T>A |
single nucleotide variant |
not provided [RCV001556006] |
Chr5:150379438 [GRCh38]
Chr5:149759001 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.870+293C>T |
single nucleotide variant |
not provided [RCV001576949] |
Chr5:150372529 [GRCh38]
Chr5:149752092 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.4338C>T (p.Ser1446=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003106613] |
Chr5:150396835 [GRCh38]
Chr5:149776398 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.2142+1del |
deletion |
Treacher Collins syndrome 1 [RCV001263487] |
Chr5:150376330 [GRCh38]
Chr5:149755893 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.2859+3967G>T |
single nucleotide variant |
not provided [RCV001539243] |
Chr5:150383699 [GRCh38]
Chr5:149763262 [GRCh37]
Chr5:5q32 |
benign |
| NM_001371623.1(TCOF1):c.2859+3703G>A |
single nucleotide variant |
not provided [RCV001597943] |
Chr5:150383435 [GRCh38]
Chr5:149762998 [GRCh37]
Chr5:5q32 |
benign |
| NM_001371623.1(TCOF1):c.3191A>G (p.Lys1064Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002538583]|TCOF1-related disorder [RCV003956319]|Treacher Collins syndrome 1 [RCV002538582]|not provided [RCV001670839] |
Chr5:150391551 [GRCh38]
Chr5:149771114 [GRCh37]
Chr5:5q32 |
benign|likely benign|uncertain significance |
| NM_001371623.1(TCOF1):c.1867G>A (p.Ala623Thr) |
single nucleotide variant |
TCOF1-related disorder [RCV003941059]|Treacher Collins syndrome 1 [RCV003645891]|not provided [RCV001658650] |
Chr5:150375883 [GRCh38]
Chr5:149755446 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001371623.1(TCOF1):c.640-223G>A |
single nucleotide variant |
not provided [RCV001687316] |
Chr5:150371783 [GRCh38]
Chr5:149751346 [GRCh37]
Chr5:5q32 |
benign |
| NM_001371623.1(TCOF1):c.4155G>A (p.Thr1385=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003645893]|not provided [RCV001658911] |
Chr5:150396652 [GRCh38]
Chr5:149776215 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.3784+1G>C |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV001049095] |
Chr5:150393553 [GRCh38]
Chr5:149773116 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.3537G>A (p.Arg1179=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002538584]|not provided [RCV001671114] |
Chr5:150392724 [GRCh38]
Chr5:149772287 [GRCh37]
Chr5:5q32 |
benign |
| NM_001371623.1(TCOF1):c.*22+26A>G |
single nucleotide variant |
not provided [RCV001609672] |
Chr5:150399096 [GRCh38]
Chr5:149778659 [GRCh37]
Chr5:5q32 |
benign |
| NM_001371623.1(TCOF1):c.2860-171A>C |
single nucleotide variant |
not provided [RCV001585355] |
Chr5:150387731 [GRCh38]
Chr5:149767294 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.3183+102G>C |
single nucleotide variant |
not provided [RCV001678749] |
Chr5:150390125 [GRCh38]
Chr5:149769688 [GRCh37]
Chr5:5q32 |
benign |
| NM_001371623.1(TCOF1):c.2859+169G>A |
single nucleotide variant |
not provided [RCV001694649] |
Chr5:150379901 [GRCh38]
Chr5:149759464 [GRCh37]
Chr5:5q32 |
benign |
| NM_001371623.1(TCOF1):c.4444-221G>C |
single nucleotide variant |
not provided [RCV001695605] |
Chr5:150398801 [GRCh38]
Chr5:149778364 [GRCh37]
Chr5:5q32 |
benign |
| NM_001371623.1(TCOF1):c.1545del (p.Leu517fs) |
deletion |
not provided [RCV001589688] |
Chr5:150375392 [GRCh38]
Chr5:149754955 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.3183+68A>G |
single nucleotide variant |
not provided [RCV001611486] |
Chr5:150390091 [GRCh38]
Chr5:149769654 [GRCh37]
Chr5:5q32 |
benign |
| NM_001371623.1(TCOF1):c.164+206G>A |
single nucleotide variant |
not provided [RCV001581005] |
Chr5:150361417 [GRCh38]
Chr5:149740980 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.3297+66C>T |
single nucleotide variant |
not provided [RCV001666338] |
Chr5:150391723 [GRCh38]
Chr5:149771286 [GRCh37]
Chr5:5q32 |
benign |
| NM_001371623.1(TCOF1):c.639+32C>T |
single nucleotide variant |
not provided [RCV001713704] |
Chr5:150369634 [GRCh38]
Chr5:149749197 [GRCh37]
Chr5:5q32 |
benign |
| NM_001371623.1(TCOF1):c.3827G>A (p.Arg1276Gln) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV001034196]|not provided [RCV004706000] |
Chr5:150396324 [GRCh38]
Chr5:149775887 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.648del (p.Ser217fs) |
deletion |
not provided [RCV001665417] |
Chr5:150372012 [GRCh38]
Chr5:149751575 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.4345+223A>C |
single nucleotide variant |
not provided [RCV001537413] |
Chr5:150397065 [GRCh38]
Chr5:149776628 [GRCh37]
Chr5:5q32 |
benign |
| NM_001371623.1(TCOF1):c.1389del (p.Ala464fs) |
deletion |
Treacher Collins syndrome 1 [RCV001208485] |
Chr5:150375063 [GRCh38]
Chr5:149754626 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.1659dup (p.Asp554fs) |
duplication |
Treacher Collins syndrome 1 [RCV001216511] |
Chr5:150375508..150375509 [GRCh38]
Chr5:149755071..149755072 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.4429A>T (p.Lys1477Ter) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV001248111] |
Chr5:150398437 [GRCh38]
Chr5:149778000 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.2490A>G (p.Pro830=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV001202320] |
Chr5:150379240 [GRCh38]
Chr5:149758803 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001371623.1(TCOF1):c.1021_1022del (p.Ser341fs) |
microsatellite |
Treacher Collins syndrome 1 [RCV001218624]|Treacher Collins syndrome [RCV003319224]|not provided [RCV003127695] |
Chr5:150374320..150374321 [GRCh38]
Chr5:149753883..149753884 [GRCh37]
Chr5:5q32 |
pathogenic|not provided |
| NM_001371623.1(TCOF1):c.25G>T (p.Glu9Ter) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV001208278] |
Chr5:150357771 [GRCh38]
Chr5:149737334 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.3496dup (p.Ala1166fs) |
duplication |
Treacher Collins syndrome 1 [RCV001037793] |
Chr5:150392150..150392151 [GRCh38]
Chr5:149771713..149771714 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.4070C>T (p.Ala1357Val) |
single nucleotide variant |
Hearing impairment [RCV001375216]|Treacher Collins syndrome 1 [RCV001197296]|not provided [RCV003425984] |
Chr5:150396567 [GRCh38]
Chr5:149776130 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001371623.1(TCOF1):c.1204C>T (p.Gln402Ter) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV001197777] |
Chr5:150374737 [GRCh38]
Chr5:149754300 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.1330_1340del (p.Lys444fs) |
deletion |
Treacher Collins syndrome 1 [RCV001253469] |
Chr5:150375003..150375013 [GRCh38]
Chr5:149754566..149754576 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.1130C>T (p.Pro377Leu) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV001255165]|not provided [RCV001587294] |
Chr5:150374663 [GRCh38]
Chr5:149754226 [GRCh37]
Chr5:5q32 |
likely benign|conflicting interpretations of pathogenicity |
| NM_001371623.1(TCOF1):c.3046G>A (p.Gly1016Ser) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV001261246] |
Chr5:150388088 [GRCh38]
Chr5:149767651 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001371623.1(TCOF1):c.117C>A (p.Phe39Leu) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV001294449] |
Chr5:150361164 [GRCh38]
Chr5:149740727 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.640-2A>G |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV001292618] |
Chr5:150372004 [GRCh38]
Chr5:149751567 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.1717G>C (p.Gly573Arg) |
single nucleotide variant |
not provided [RCV002284690] |
Chr5:150375733 [GRCh38]
Chr5:149755296 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2464_2467dup (p.Ser823Ter) |
duplication |
Treacher Collins syndrome 1 [RCV001280837] |
Chr5:150379027..150379028 [GRCh38]
Chr5:149758590..149758591 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.600_620del (p.Glu201_Ser207del) |
deletion |
Treacher Collins syndrome 1 [RCV001298660] |
Chr5:150369554..150369574 [GRCh38]
Chr5:149749117..149749137 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1578del (p.Lys528fs) |
deletion |
Treacher Collins syndrome 1 [RCV001383321] |
Chr5:150375426 [GRCh38]
Chr5:149754989 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.325A>G (p.Asn109Asp) |
single nucleotide variant |
Hearing impairment [RCV001375331] |
Chr5:150367864 [GRCh38]
Chr5:149747427 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.645del (p.Lys215fs) |
deletion |
Treacher Collins syndrome 1 [RCV002544380]|Treacher Collins syndrome [RCV001800168] |
Chr5:150372009 [GRCh38]
Chr5:149751572 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.2103_2106del (p.Ser701fs) |
deletion |
Treacher Collins syndrome 1 [RCV001383031]|not provided [RCV002281186] |
Chr5:150376289..150376292 [GRCh38]
Chr5:149755852..149755855 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.4210_4214del (p.Lys1404fs) |
deletion |
Treacher Collins syndrome 1 [RCV001383032] |
Chr5:150396706..150396710 [GRCh38]
Chr5:149776269..149776273 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.4342_4343del (p.Lys1448fs) |
deletion |
Treacher Collins syndrome 1 [RCV001383033]|not provided [RCV001556782] |
Chr5:150396839..150396840 [GRCh38]
Chr5:149776402..149776403 [GRCh37]
Chr5:5q32 |
pathogenic|likely pathogenic |
| NM_001371623.1(TCOF1):c.481G>T (p.Ala161Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004036468]|Treacher Collins syndrome 1 [RCV001345867] |
Chr5:150368818 [GRCh38]
Chr5:149748381 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3593C>T (p.Ala1198Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004967963]|Treacher Collins syndrome 1 [RCV001296991] |
Chr5:150392780 [GRCh38]
Chr5:149772343 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1328_1350del (p.Ala443fs) |
deletion |
Treacher Collins syndrome 1 [RCV001387452] |
Chr5:150375002..150375024 [GRCh38]
Chr5:149754565..149754587 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.1504_1505insT (p.Lys502fs) |
insertion |
Treacher Collins syndrome 1 [RCV001381083] |
Chr5:150375354..150375355 [GRCh38]
Chr5:149754917..149754918 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.3750C>T (p.Pro1250=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV001409345] |
Chr5:150393518 [GRCh38]
Chr5:149773081 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.3698_3702del (p.Ser1233fs) |
deletion |
Treacher Collins syndrome 1 [RCV001389715] |
Chr5:150393465..150393469 [GRCh38]
Chr5:149773028..149773032 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.165-190G>T |
single nucleotide variant |
not provided [RCV001541364] |
Chr5:150363923 [GRCh38]
Chr5:149743486 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.2709del (p.Lys904fs) |
deletion |
Treacher Collins syndrome 1 [RCV001380502] |
Chr5:150379581 [GRCh38]
Chr5:149759144 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.109-3del |
deletion |
Treacher Collins syndrome 1 [RCV001378753] |
Chr5:150361153 [GRCh38]
Chr5:149740716 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001371623.1(TCOF1):c.1866_1873del (p.Glu622fs) |
deletion |
Treacher Collins syndrome 1 [RCV001391015] |
Chr5:150375882..150375889 [GRCh38]
Chr5:149755445..149755452 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.1535T>C (p.Met512Thr) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV001416575]|not provided [RCV001713087] |
Chr5:150375385 [GRCh38]
Chr5:149754948 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001371623.1(TCOF1):c.1502G>A (p.Gly501Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004039189]|Treacher Collins syndrome 1 [RCV002568861]|not provided [RCV001527837] |
Chr5:150375352 [GRCh38]
Chr5:149754915 [GRCh37]
Chr5:5q32 |
benign|likely benign|uncertain significance |
| NM_001371623.1(TCOF1):c.304+202C>T |
single nucleotide variant |
not provided [RCV001610202] |
Chr5:150364454 [GRCh38]
Chr5:149744017 [GRCh37]
Chr5:5q32 |
benign |
| NM_001371623.1(TCOF1):c.1489-82G>A |
single nucleotide variant |
not provided [RCV001669124] |
Chr5:150375257 [GRCh38]
Chr5:149754820 [GRCh37]
Chr5:5q32 |
benign |
| NM_001371623.1(TCOF1):c.326A>G (p.Asn109Ser) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003106242]|not provided [RCV001591971] |
Chr5:150367865 [GRCh38]
Chr5:149747428 [GRCh37]
Chr5:5q32 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001371623.1(TCOF1):c.2340+294G>C |
single nucleotide variant |
not provided [RCV001643793] |
Chr5:150376914 [GRCh38]
Chr5:149756477 [GRCh37]
Chr5:5q32 |
benign |
| NM_001371623.1(TCOF1):c.2672G>A (p.Gly891Glu) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003530202]|not provided [RCV001592685] |
Chr5:150379545 [GRCh38]
Chr5:149759108 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001371623.1(TCOF1):c.4346-193A>G |
single nucleotide variant |
not provided [RCV001614028] |
Chr5:150398161 [GRCh38]
Chr5:149777724 [GRCh37]
Chr5:5q32 |
benign |
| NM_001371623.1(TCOF1):c.3335C>T (p.Pro1112Leu) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002539585]|not provided [RCV001652536] |
Chr5:150391994 [GRCh38]
Chr5:149771557 [GRCh37]
Chr5:5q32 |
benign|uncertain significance |
| NM_001371623.1(TCOF1):c.2515G>A (p.Val839Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002561309]|Treacher Collins syndrome 1 [RCV001470540]|not provided [RCV001578027] |
Chr5:150379265 [GRCh38]
Chr5:149758828 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001371623.1(TCOF1):c.3029C>T (p.Thr1010Ile) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV001451141]|not provided [RCV004706172] |
Chr5:150388071 [GRCh38]
Chr5:149767634 [GRCh37]
Chr5:5q32 |
likely benign |
| NC_000005.9:g.(?_149776191)_149778631del |
deletion |
Treacher Collins syndrome 1 [RCV001385461] |
|
pathogenic |
| NC_000005.9:g.(?_149775825)_(149778631_?)del |
deletion |
Treacher Collins syndrome 1 [RCV001385460] |
Chr5:149775825..149778631 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.1563C>T (p.Ala521=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV001485123] |
Chr5:150375413 [GRCh38]
Chr5:149754976 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1425_1426del (p.Arg476fs) |
deletion |
Treacher Collins syndrome 1 [RCV001385748] |
Chr5:150375100..150375101 [GRCh38]
Chr5:149754663..149754664 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.3337_3338insCTCT (p.Gln1113fs) |
insertion |
Treacher Collins syndrome 1 [RCV001387620] |
Chr5:150391996..150391997 [GRCh38]
Chr5:149771559..149771560 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.305-254T>C |
single nucleotide variant |
not provided [RCV001539132] |
Chr5:150367590 [GRCh38]
Chr5:149747153 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.252C>T (p.Thr84=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003645898]|not provided [RCV001755071] |
Chr5:150364200 [GRCh38]
Chr5:149743763 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001371623.1(TCOF1):c.1075del (p.Leu359fs) |
deletion |
Treacher Collins syndrome [RCV001777126] |
Chr5:150374376 [GRCh38]
Chr5:149753939 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.4346-12_4346-8del |
microsatellite |
Treacher Collins syndrome 1 [RCV003108280] |
Chr5:150398333..150398337 [GRCh38]
Chr5:149777896..149777900 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001371623.1(TCOF1):c.3856C>T (p.Gln1286Ter) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002251103] |
Chr5:150396353 [GRCh38]
Chr5:149775916 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001371623.1(TCOF1):c.1704+16G>A |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003108331] |
Chr5:150375570 [GRCh38]
Chr5:149755133 [GRCh37]
Chr5:5q32 |
benign |
| NM_001371623.1(TCOF1):c.3858A>G (p.Gln1286=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003104600] |
Chr5:150396355 [GRCh38]
Chr5:149775918 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.3985AAG[1] (p.Lys1330del) |
microsatellite |
not provided [RCV001763124] |
Chr5:150396482..150396484 [GRCh38]
Chr5:149776045..149776047 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1003C>T (p.Pro335Ser) |
single nucleotide variant |
not provided [RCV001760864] |
Chr5:150374306 [GRCh38]
Chr5:149753869 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3518-1G>A |
single nucleotide variant |
not provided [RCV003238600] |
Chr5:150392704 [GRCh38]
Chr5:149772267 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1399del (p.Gln467fs) |
deletion |
Treacher Collins syndrome 1 [RCV002251060] |
Chr5:150375073 [GRCh38]
Chr5:149754636 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001371623.1(TCOF1):c.384_385del (p.Glu128fs) |
microsatellite |
not provided [RCV002251683] |
Chr5:150368718..150368719 [GRCh38]
Chr5:149748281..149748282 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.4371_4373del (p.Lys1461del) |
deletion |
not provided [RCV001763750] |
Chr5:150398378..150398380 [GRCh38]
Chr5:149777941..149777943 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3905G>A (p.Gly1302Asp) |
single nucleotide variant |
not provided [RCV001754042] |
Chr5:150396402 [GRCh38]
Chr5:149775965 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2024C>T (p.Pro675Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002540282]|not provided [RCV001770731] |
Chr5:150376212 [GRCh38]
Chr5:149755775 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2027C>G (p.Ala676Gly) |
single nucleotide variant |
not provided [RCV001752228] |
Chr5:150376215 [GRCh38]
Chr5:149755778 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2731G>T (p.Ala911Ser) |
single nucleotide variant |
TCOF1-related disorder [RCV003976152]|not provided [RCV001754463] |
Chr5:150379604 [GRCh38]
Chr5:149759167 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001371623.1(TCOF1):c.1901C>T (p.Pro634Leu) |
single nucleotide variant |
not provided [RCV001763783] |
Chr5:150376089 [GRCh38]
Chr5:149755652 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.701C>G (p.Pro234Arg) |
single nucleotide variant |
not provided [RCV001752710] |
Chr5:150372067 [GRCh38]
Chr5:149751630 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1298C>G (p.Ala433Gly) |
single nucleotide variant |
not provided [RCV001765595] |
Chr5:150374973 [GRCh38]
Chr5:149754536 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3131A>G (p.Lys1044Arg) |
single nucleotide variant |
not provided [RCV001773134] |
Chr5:150389971 [GRCh38]
Chr5:149769534 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1705-8C>A |
single nucleotide variant |
not provided [RCV001761140] |
Chr5:150375713 [GRCh38]
Chr5:149755276 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.568A>G (p.Met190Val) |
single nucleotide variant |
not provided [RCV001774134] |
Chr5:150369531 [GRCh38]
Chr5:149749094 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1567C>G (p.Pro523Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004968267]|not provided [RCV001774233] |
Chr5:150375417 [GRCh38]
Chr5:149754980 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3491A>G (p.Gln1164Arg) |
single nucleotide variant |
not provided [RCV001774250] |
Chr5:150392150 [GRCh38]
Chr5:149771713 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3563C>A (p.Ala1188Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV005288539]|not provided [RCV001769413] |
Chr5:150392750 [GRCh38]
Chr5:149772313 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3518-4C>G |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003645900]|not provided [RCV001763878] |
Chr5:150392701 [GRCh38]
Chr5:149772264 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.4043G>A (p.Arg1348Gln) |
single nucleotide variant |
TCOF1-related disorder [RCV003407796]|not provided [RCV001752851] |
Chr5:150396540 [GRCh38]
Chr5:149776103 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.76G>A (p.Ala26Thr) |
single nucleotide variant |
not provided [RCV001752580] |
Chr5:150357822 [GRCh38]
Chr5:149737385 [GRCh37]
Chr5:5q32 |
likely pathogenic|uncertain significance |
| NM_001371623.1(TCOF1):c.1273G>A (p.Ala425Thr) |
single nucleotide variant |
not provided [RCV001768786] |
Chr5:150374806 [GRCh38]
Chr5:149754369 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2478+4A>G |
single nucleotide variant |
not provided [RCV001768887] |
Chr5:150379046 [GRCh38]
Chr5:149758609 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1491G>A (p.Val497=) |
single nucleotide variant |
not provided [RCV001765601] |
Chr5:150375341 [GRCh38]
Chr5:149754904 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3605C>T (p.Ser1202Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002540284]|Treacher Collins syndrome 1 [RCV001861102]|not provided [RCV001770783] |
Chr5:150393373 [GRCh38]
Chr5:149772936 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1561G>A (p.Ala521Thr) |
single nucleotide variant |
not provided [RCV001770889] |
Chr5:150375411 [GRCh38]
Chr5:149754974 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.4080del (p.Arg1361fs) |
deletion |
Treacher Collins syndrome 1 [RCV001785055] |
Chr5:150396573 [GRCh38]
Chr5:149776136 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.1066G>A (p.Ala356Thr) |
single nucleotide variant |
not provided [RCV001797257] |
Chr5:150374369 [GRCh38]
Chr5:149753932 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.484G>A (p.Glu162Lys) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002541086]|not provided [RCV001777025] |
Chr5:150368821 [GRCh38]
Chr5:149748384 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.3664G>A (p.Ala1222Thr) |
single nucleotide variant |
not provided [RCV001757171] |
Chr5:150393432 [GRCh38]
Chr5:149772995 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2614G>A (p.Glu872Lys) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV001885144]|not provided [RCV001779605] |
Chr5:150379364 [GRCh38]
Chr5:149758927 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001371623.1(TCOF1):c.1864G>A (p.Glu622Lys) |
single nucleotide variant |
TCOF1-related disorder [RCV003913405]|Treacher Collins syndrome 1 [RCV002074327]|not specified [RCV001820299] |
Chr5:150375880 [GRCh38]
Chr5:149755443 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1916del (p.Pro639fs) |
deletion |
Treacher Collins syndrome 1 [RCV001814673] |
Chr5:150376103 [GRCh38]
Chr5:149755666 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001371623.1(TCOF1):c.1419G>C (p.Glu473Asp) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV001908020] |
Chr5:150375094 [GRCh38]
Chr5:149754657 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.4318A>G (p.Lys1440Glu) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV001950563] |
Chr5:150396815 [GRCh38]
Chr5:149776378 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3253A>G (p.Ser1085Gly) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV001912660] |
Chr5:150391613 [GRCh38]
Chr5:149771176 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1999dup (p.Arg667fs) |
duplication |
Treacher Collins syndrome 1 [RCV001949675] |
Chr5:150376181..150376182 [GRCh38]
Chr5:149755744..149755745 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.814A>G (p.Ser272Gly) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002040954] |
Chr5:150372180 [GRCh38]
Chr5:149751743 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1623GGA[2] (p.Glu543del) |
microsatellite |
Treacher Collins syndrome 1 [RCV001950459] |
Chr5:150375473..150375475 [GRCh38]
Chr5:149755036..149755038 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1993G>T (p.Ala665Ser) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV001863778]|not provided [RCV002243474] |
Chr5:150376181 [GRCh38]
Chr5:149755744 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2618A>T (p.Glu873Val) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV001892175] |
Chr5:150379368 [GRCh38]
Chr5:149758931 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.163C>T (p.Gln55Ter) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002007283] |
Chr5:150361210 [GRCh38]
Chr5:149740773 [GRCh37]
Chr5:5q32 |
pathogenic |
| GRCh37/hg19 5q32-35.3(chr5:149010383-180719789) |
copy number gain |
Hunter-McAlpine craniosynostosis [RCV002280612] |
Chr5:149010383..180719789 [GRCh37]
Chr5:5q32-35.3 |
pathogenic |
| NM_001371623.1(TCOF1):c.2205G>C (p.Leu735Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV004044361]|Treacher Collins syndrome 1 [RCV002002503]|not provided [RCV005412341] |
Chr5:150376485 [GRCh38]
Chr5:149756048 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001371623.1(TCOF1):c.737G>A (p.Gly246Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004671451]|Treacher Collins syndrome 1 [RCV001869841]|not provided [RCV001837137] |
Chr5:150372103 [GRCh38]
Chr5:149751666 [GRCh37]
Chr5:5q32 |
uncertain significance |
| GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910) |
copy number gain |
not specified [RCV002053526] |
Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3 |
pathogenic |
| NM_001371623.1(TCOF1):c.1622G>A (p.Trp541Ter) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV001945521] |
Chr5:150375472 [GRCh38]
Chr5:149755035 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.4027dup (p.Trp1343fs) |
duplication |
Treacher Collins syndrome 1 [RCV002052099] |
Chr5:150396523..150396524 [GRCh38]
Chr5:149776086..149776087 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001371623.1(TCOF1):c.1651G>A (p.Glu551Lys) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV001863397] |
Chr5:150375501 [GRCh38]
Chr5:149755064 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.134C>T (p.Thr45Ile) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV001987259] |
Chr5:150361181 [GRCh38]
Chr5:149740744 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.523G>T (p.Glu175Ter) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV001970207] |
Chr5:150368860 [GRCh38]
Chr5:149748423 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.4345+2T>C |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV001927382] |
Chr5:150396844 [GRCh38]
Chr5:149776407 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.4361A>C (p.Glu1454Ala) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV001983821] |
Chr5:150398369 [GRCh38]
Chr5:149777932 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3368A>G (p.Asn1123Ser) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002024165] |
Chr5:150392027 [GRCh38]
Chr5:149771590 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.766G>A (p.Ala256Thr) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV001871473] |
Chr5:150372132 [GRCh38]
Chr5:149751695 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1824_1825delinsTT (p.Glu609Ter) |
indel |
Treacher Collins syndrome 1 [RCV002004648] |
Chr5:150375840..150375841 [GRCh38]
Chr5:149755403..149755404 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.983C>G (p.Ser328Cys) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002040524] |
Chr5:150374286 [GRCh38]
Chr5:149753849 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1973C>G (p.Pro658Arg) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV001946118]|not provided [RCV003236909] |
Chr5:150376161 [GRCh38]
Chr5:149755724 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2819_2822del (p.Asp940fs) |
deletion |
Treacher Collins syndrome 1 [RCV001912043] |
Chr5:150379689..150379692 [GRCh38]
Chr5:149759252..149759255 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.309A>C (p.Pro103=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV001962961] |
Chr5:150367848 [GRCh38]
Chr5:149747411 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1413GGA[2] (p.Glu473del) |
microsatellite |
Treacher Collins syndrome 1 [RCV002027121] |
Chr5:150375087..150375089 [GRCh38]
Chr5:149754650..149754652 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2905G>A (p.Ala969Thr) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV001916864] |
Chr5:150387947 [GRCh38]
Chr5:149767510 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3215T>A (p.Leu1072Gln) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV001867826] |
Chr5:150391575 [GRCh38]
Chr5:149771138 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1173del (p.Lys393fs) |
deletion |
Treacher Collins syndrome 1 [RCV002000132] |
Chr5:150374706 [GRCh38]
Chr5:149754269 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.161A>C (p.Gln54Pro) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV001992087] |
Chr5:150361208 [GRCh38]
Chr5:149740771 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3587TGG[1] (p.Val1197del) |
microsatellite |
Treacher Collins syndrome 1 [RCV001972338] |
Chr5:150392773..150392775 [GRCh38]
Chr5:149772336..149772338 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.618_619del (p.Ser206_Ser207insTer) |
deletion |
Treacher Collins syndrome 1 [RCV001953118] |
Chr5:150369581..150369582 [GRCh38]
Chr5:149749144..149749145 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.1029_1046del (p.Ser346_Glu351del) |
deletion |
Treacher Collins syndrome 1 [RCV001884483] |
Chr5:150374329..150374346 [GRCh38]
Chr5:149753892..149753909 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3882C>T (p.Ser1294=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV001954500] |
Chr5:150396379 [GRCh38]
Chr5:149775942 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001371623.1(TCOF1):c.3857A>G (p.Gln1286Arg) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV001880555] |
Chr5:150396354 [GRCh38]
Chr5:149775917 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.521AGG[2] (p.Glu176del) |
microsatellite |
Treacher Collins syndrome 1 [RCV001907292] |
Chr5:150368857..150368859 [GRCh38]
Chr5:149748420..149748422 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.462del (p.Lys155fs) |
deletion |
Treacher Collins syndrome 1 [RCV001925483] |
Chr5:150368797 [GRCh38]
Chr5:149748360 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.2458A>G (p.Lys820Glu) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV001917458] |
Chr5:150379022 [GRCh38]
Chr5:149758585 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.973_999del (p.Ala325_Gly333del) |
deletion |
Treacher Collins syndrome 1 [RCV001901454] |
Chr5:150374267..150374293 [GRCh38]
Chr5:149753830..149753856 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3349G>A (p.Val1117Ile) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV001979718] |
Chr5:150392008 [GRCh38]
Chr5:149771571 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.378+3G>A |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV001903990]|not provided [RCV004770233] |
Chr5:150367920 [GRCh38]
Chr5:149747483 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.457T>C (p.Ser153Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004671547]|Treacher Collins syndrome 1 [RCV001972236] |
Chr5:150368794 [GRCh38]
Chr5:149748357 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1208C>T (p.Ala403Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004681343]|Treacher Collins syndrome 1 [RCV001934305]|not provided [RCV002508331] |
Chr5:150374741 [GRCh38]
Chr5:149754304 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.109-1del |
deletion |
Treacher Collins syndrome 1 [RCV001975163] |
Chr5:150361155 [GRCh38]
Chr5:149740718 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.1516G>C (p.Val506Leu) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV001979462] |
Chr5:150375366 [GRCh38]
Chr5:149754929 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2014G>T (p.Ala672Ser) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002015568] |
Chr5:150376202 [GRCh38]
Chr5:149755765 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.230G>A (p.Arg77His) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV001883497]|not provided [RCV003322900] |
Chr5:150364178 [GRCh38]
Chr5:149743741 [GRCh37]
Chr5:5q32 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_001371623.1(TCOF1):c.305-15_305-14del |
deletion |
Treacher Collins syndrome 1 [RCV002126747] |
Chr5:150367828..150367829 [GRCh38]
Chr5:149747391..149747392 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.164+17A>G |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002186066] |
Chr5:150361228 [GRCh38]
Chr5:149740791 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.3009T>C (p.Asp1003=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002207452] |
Chr5:150388051 [GRCh38]
Chr5:149767614 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1780C>T (p.Pro594Ser) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002111789] |
Chr5:150375796 [GRCh38]
Chr5:149755359 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1248A>G (p.Glu416=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002145280] |
Chr5:150374781 [GRCh38]
Chr5:149754344 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.3084C>T (p.His1028=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002186721] |
Chr5:150389924 [GRCh38]
Chr5:149769487 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1322C>T (p.Ala441Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003015339]|Treacher Collins syndrome 1 [RCV002127111] |
Chr5:150374997 [GRCh38]
Chr5:149754560 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001371623.1(TCOF1):c.4345+16T>C |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002091166]|not provided [RCV004706323] |
Chr5:150396858 [GRCh38]
Chr5:149776421 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1308C>G (p.Val436=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002206935] |
Chr5:150374983 [GRCh38]
Chr5:149754546 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.3873G>T (p.Ala1291=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002092022] |
Chr5:150396370 [GRCh38]
Chr5:149775933 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.839AGG[2] (p.Glu282del) |
microsatellite |
Treacher Collins syndrome 1 [RCV002207591]|not provided [RCV004774623] |
Chr5:150372204..150372206 [GRCh38]
Chr5:149751767..149751769 [GRCh37]
Chr5:5q32 |
benign|uncertain significance |
| NM_001371623.1(TCOF1):c.1668T>C (p.Ser556=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002129146] |
Chr5:150375518 [GRCh38]
Chr5:149755081 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.3562G>A (p.Ala1188Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003070620]|Treacher Collins syndrome 1 [RCV002126049] |
Chr5:150392749 [GRCh38]
Chr5:149772312 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.984C>T (p.Ser328=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002212207] |
Chr5:150374287 [GRCh38]
Chr5:149753850 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.3047-20C>T |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002208196] |
Chr5:150389867 [GRCh38]
Chr5:149769430 [GRCh37]
Chr5:5q32 |
benign |
| NM_001371623.1(TCOF1):c.1830C>T (p.Ser610=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002195242] |
Chr5:150375846 [GRCh38]
Chr5:149755409 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1114G>C (p.Gly372Arg) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002215746] |
Chr5:150374647 [GRCh38]
Chr5:149754210 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1489-9G>A |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002131502] |
Chr5:150375330 [GRCh38]
Chr5:149754893 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.4346-17T>A |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002085633] |
Chr5:150398337 [GRCh38]
Chr5:149777900 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001371623.1(TCOF1):c.1488+16G>A |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002132210] |
Chr5:150375179 [GRCh38]
Chr5:149754742 [GRCh37]
Chr5:5q32 |
benign |
| NM_001371623.1(TCOF1):c.378+16T>C |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002093107]|not provided [RCV003426312] |
Chr5:150367933 [GRCh38]
Chr5:149747496 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001371623.1(TCOF1):c.1299C>A (p.Ala433=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002149052] |
Chr5:150374974 [GRCh38]
Chr5:149754537 [GRCh37]
Chr5:5q32 |
benign |
| NM_001371623.1(TCOF1):c.2648C>T (p.Thr883Met) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002149300] |
Chr5:150379398 [GRCh38]
Chr5:149758961 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1804G>A (p.Glu602Lys) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002152023] |
Chr5:150375820 [GRCh38]
Chr5:149755383 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.517A>G (p.Thr173Ala) |
single nucleotide variant |
not provided [RCV002221764] |
Chr5:150368854 [GRCh38]
Chr5:149748417 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3438T>G (p.Ser1146Arg) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002099326] |
Chr5:150392097 [GRCh38]
Chr5:149771660 [GRCh37]
Chr5:5q32 |
benign |
| NM_001371623.1(TCOF1):c.724C>T (p.Pro242Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004047044]|Treacher Collins syndrome 1 [RCV002163922] |
Chr5:150372090 [GRCh38]
Chr5:149751653 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001371623.1(TCOF1):c.525G>A (p.Glu175=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002142151] |
Chr5:150368862 [GRCh38]
Chr5:149748425 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.4345+11G>A |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002157645] |
Chr5:150396853 [GRCh38]
Chr5:149776416 [GRCh37]
Chr5:5q32 |
benign |
| NM_001371623.1(TCOF1):c.871-17C>G |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002121455] |
Chr5:150374157 [GRCh38]
Chr5:149753720 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.3517+12del |
deletion |
Treacher Collins syndrome 1 [RCV002119893] |
Chr5:150392188 [GRCh38]
Chr5:149771751 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.216A>G (p.Gln72=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002120449] |
Chr5:150364164 [GRCh38]
Chr5:149743727 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.4230C>T (p.Gly1410=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002119551] |
Chr5:150396727 [GRCh38]
Chr5:149776290 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.4314G>A (p.Lys1438=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002138189] |
Chr5:150396811 [GRCh38]
Chr5:149776374 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.3603+10A>C |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002183986] |
Chr5:150392800 [GRCh38]
Chr5:149772363 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.3046+20A>G |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002217709] |
Chr5:150388108 [GRCh38]
Chr5:149767671 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.3525C>T (p.Pro1175=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002204276] |
Chr5:150392712 [GRCh38]
Chr5:149772275 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.535G>A (p.Val179Ile) |
single nucleotide variant |
not provided [RCV002221731] |
Chr5:150368872 [GRCh38]
Chr5:149748435 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.951A>C (p.Pro317=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002182231] |
Chr5:150374254 [GRCh38]
Chr5:149753817 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1551G>C (p.Leu517Phe) |
single nucleotide variant |
TCOF1-related disorder [RCV003393129] |
Chr5:150375401 [GRCh38]
Chr5:149754964 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2658+14A>T |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003112063] |
Chr5:150379422 [GRCh38]
Chr5:149758985 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.3046+7G>A |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003112068] |
Chr5:150388095 [GRCh38]
Chr5:149767658 [GRCh37]
Chr5:5q32 |
benign |
| NM_001371623.1(TCOF1):c.3530C>A (p.Pro1177His) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003117245] |
Chr5:150392717 [GRCh38]
Chr5:149772280 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1276C>G (p.Gln426Glu) |
single nucleotide variant |
not provided [RCV003120496] |
Chr5:150374809 [GRCh38]
Chr5:149754372 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3099del (p.Ala1035fs) |
deletion |
Treacher Collins syndrome 1 [RCV003153036] |
Chr5:150389935 [GRCh38]
Chr5:149769498 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001371623.1(TCOF1):c.1602del (p.Ser535fs) |
deletion |
Treacher Collins syndrome 1 [RCV004796920] |
Chr5:150375448 [GRCh38]
Chr5:149755011 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.3047-1G>A |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002246768] |
Chr5:150389886 [GRCh38]
Chr5:149769449 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.2257C>T (p.Gln753Ter) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002250989] |
Chr5:150376537 [GRCh38]
Chr5:149756100 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.1564G>A (p.Gly522Ser) |
single nucleotide variant |
TCOF1-related disorder [RCV003966299]|not provided [RCV003230153] |
Chr5:150375414 [GRCh38]
Chr5:149754977 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001371623.1(TCOF1):c.863G>A (p.Arg288Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003295940]|Treacher Collins syndrome 1 [RCV003645951] |
Chr5:150372229 [GRCh38]
Chr5:149751792 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1016C>G (p.Ser339Ter) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003988100]|not provided [RCV003231955] |
Chr5:150374319 [GRCh38]
Chr5:149753882 [GRCh37]
Chr5:5q32 |
pathogenic|likely pathogenic |
| NM_001371623.1(TCOF1):c.2228T>C (p.Leu743Pro) |
single nucleotide variant |
not provided [RCV002265216] |
Chr5:150376508 [GRCh38]
Chr5:149756071 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3987_3988del (p.Lys1330fs) |
deletion |
Treacher Collins syndrome 1 [RCV002260531] |
Chr5:150396483..150396484 [GRCh38]
Chr5:149776046..149776047 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001371623.1(TCOF1):c.3785G>T (p.Gly1262Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003355841]|TCOF1-related disorder [RCV003896100]|not provided [RCV002269511] |
Chr5:150396282 [GRCh38]
Chr5:149775845 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001371623.1(TCOF1):c.2859+1G>A |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV005052855]|not provided [RCV002276141] |
Chr5:150379733 [GRCh38]
Chr5:149759296 [GRCh37]
Chr5:5q32 |
likely pathogenic|uncertain significance |
| NM_001371623.1(TCOF1):c.1522C>T (p.Pro508Ser) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003645907]|not provided [RCV002267377] |
Chr5:150375372 [GRCh38]
Chr5:149754935 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.4127C>T (p.Ala1376Val) |
single nucleotide variant |
not provided [RCV002292170] |
Chr5:150396624 [GRCh38]
Chr5:149776187 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.*22+1G>A |
single nucleotide variant |
not provided [RCV002283042] |
Chr5:150399071 [GRCh38]
Chr5:149778634 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.551del (p.Ala184fs) |
deletion |
Treacher Collins syndrome 1 [RCV002283923] |
Chr5:150368888 [GRCh38]
Chr5:149748451 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001371623.1(TCOF1):c.2722del (p.Arg908fs) |
deletion |
Treacher Collins syndrome 1 [RCV002273095] |
Chr5:150379595 [GRCh38]
Chr5:149759158 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.1418A>T (p.Glu473Val) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV005096012]|not provided [RCV002279115] |
Chr5:150375093 [GRCh38]
Chr5:149754656 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3157A>C (p.Lys1053Gln) |
single nucleotide variant |
not provided [RCV002286291] |
Chr5:150389997 [GRCh38]
Chr5:149769560 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.4243A>T (p.Lys1415Ter) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002283801] |
Chr5:150396740 [GRCh38]
Chr5:149776303 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001371623.1(TCOF1):c.3385_3389dup (p.Pro1131fs) |
duplication |
Treacher Collins syndrome 1 [RCV002283857] |
Chr5:150392041..150392042 [GRCh38]
Chr5:149771604..149771605 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001371623.1(TCOF1):c.2747C>T (p.Pro916Leu) |
single nucleotide variant |
not provided [RCV002285975] |
Chr5:150379620 [GRCh38]
Chr5:149759183 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3711del (p.Ala1238fs) |
deletion |
Treacher Collins syndrome 1 [RCV002269138] |
Chr5:150393478 [GRCh38]
Chr5:149773041 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001371623.1(TCOF1):c.2244dup (p.Pro749fs) |
duplication |
not provided [RCV003237208] |
Chr5:150376520..150376521 [GRCh38]
Chr5:149756083..149756084 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.1894-6C>G |
single nucleotide variant |
not provided [RCV002291924] |
Chr5:150376076 [GRCh38]
Chr5:149755639 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3306_3314del (p.Ser1102_Gly1105delinsArg) |
deletion |
not specified [RCV002282840] |
Chr5:150391964..150391972 [GRCh38]
Chr5:149771527..149771535 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.4023G>T (p.Lys1341Asn) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002272709] |
Chr5:150396520 [GRCh38]
Chr5:149776083 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2388dup (p.Ala797fs) |
duplication |
Treacher Collins syndrome 1 [RCV002284049] |
Chr5:150378950..150378951 [GRCh38]
Chr5:149758513..149758514 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001371623.1(TCOF1):c.3679_3697delinsCTCTGG (p.Asp1227fs) |
indel |
Treacher Collins syndrome 1 [RCV002260530] |
Chr5:150393447..150393465 [GRCh38]
Chr5:149773010..149773028 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001371623.1(TCOF1):c.548G>A (p.Gly183Glu) |
single nucleotide variant |
not provided [RCV002283151] |
Chr5:150368885 [GRCh38]
Chr5:149748448 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2112_2116del (p.Glu704fs) |
microsatellite |
TCOF1-related disorder [RCV004729137]|Treacher Collins syndrome 1 [RCV002283865] |
Chr5:150376295..150376299 [GRCh38]
Chr5:149755858..149755862 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.3085C>T (p.Pro1029Ser) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002296551] |
Chr5:150389925 [GRCh38]
Chr5:149769488 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3631G>A (p.Gly1211Arg) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002283975] |
Chr5:150393399 [GRCh38]
Chr5:149772962 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.85G>C (p.Glu29Gln) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002471586] |
Chr5:150357831 [GRCh38]
Chr5:149737394 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.4369_4372del (p.Glu1457fs) |
deletion |
Treacher Collins syndrome 1 [RCV002474265] |
Chr5:150398374..150398377 [GRCh38]
Chr5:149777937..149777940 [GRCh37]
Chr5:5q32 |
pathogenic|likely pathogenic |
| NM_001371623.1(TCOF1):c.3388del (p.Leu1130fs) |
deletion |
Treacher Collins syndrome 1 [RCV002474261] |
Chr5:150392047 [GRCh38]
Chr5:149771610 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001371623.1(TCOF1):c.1363C>T (p.Pro455Ser) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002569358]|not provided [RCV002467205] |
Chr5:150375038 [GRCh38]
Chr5:149754601 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.304+5G>C |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002471497] |
Chr5:150364257 [GRCh38]
Chr5:149743820 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.1602dup (p.Ser535fs) |
duplication |
Treacher Collins syndrome 1 [RCV003153024] |
Chr5:150375447..150375448 [GRCh38]
Chr5:149755010..149755011 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001371623.1(TCOF1):c.41T>G (p.Ile14Ser) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003153076] |
Chr5:150357787 [GRCh38]
Chr5:149737350 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3490C>T (p.Gln1164Ter) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002471820] |
Chr5:150392149 [GRCh38]
Chr5:149771712 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.1538G>T (p.Gly513Val) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003530225]|not provided [RCV002305945] |
Chr5:150375388 [GRCh38]
Chr5:149754951 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2588G>A (p.Gly863Glu) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002301744] |
Chr5:150379338 [GRCh38]
Chr5:149758901 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1867G>C (p.Ala623Pro) |
single nucleotide variant |
not provided [RCV002308838] |
Chr5:150375883 [GRCh38]
Chr5:149755446 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1523C>T (p.Pro508Leu) |
single nucleotide variant |
not provided [RCV002302636] |
Chr5:150375373 [GRCh38]
Chr5:149754936 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1340C>G (p.Pro447Arg) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002488679] |
Chr5:150375015 [GRCh38]
Chr5:149754578 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2258A>G (p.Gln753Arg) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002903048] |
Chr5:150376538 [GRCh38]
Chr5:149756101 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.445G>A (p.Ala149Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002772034] |
Chr5:150368782 [GRCh38]
Chr5:149748345 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.304+1del |
deletion |
Treacher Collins syndrome 1 [RCV003015614] |
Chr5:150364253 [GRCh38]
Chr5:149743816 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.3912del (p.Trp1305fs) |
deletion |
Treacher Collins syndrome 1 [RCV002819375] |
Chr5:150396407 [GRCh38]
Chr5:149775970 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.4448A>C (p.Lys1483Thr) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003015110] |
Chr5:150399026 [GRCh38]
Chr5:149778589 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2459A>C (p.Lys820Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002728333] |
Chr5:150379023 [GRCh38]
Chr5:149758586 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.4413G>A (p.Glu1471=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002994191]|not provided [RCV003886592] |
Chr5:150398421 [GRCh38]
Chr5:149777984 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001371623.1(TCOF1):c.946A>G (p.Thr316Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004673786]|Treacher Collins syndrome 1 [RCV003074565] |
Chr5:150374249 [GRCh38]
Chr5:149753812 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001371623.1(TCOF1):c.1488+3G>A |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002882270] |
Chr5:150375166 [GRCh38]
Chr5:149754729 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.2240C>T (p.Thr747Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002883834] |
Chr5:150376520 [GRCh38]
Chr5:149756083 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1844C>T (p.Ser615Leu) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003073685] |
Chr5:150375860 [GRCh38]
Chr5:149755423 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001371623.1(TCOF1):c.3397G>A (p.Val1133Ile) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002775000] |
Chr5:150392056 [GRCh38]
Chr5:149771619 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2039del (p.Pro680fs) |
deletion |
Treacher Collins syndrome 1 [RCV003016312] |
Chr5:150376224 [GRCh38]
Chr5:149755787 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.1278+10_1278+11del |
microsatellite |
Treacher Collins syndrome 1 [RCV003095823] |
Chr5:150374819..150374820 [GRCh38]
Chr5:149754382..149754383 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.3704C>G (p.Thr1235Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002818078] |
Chr5:150393472 [GRCh38]
Chr5:149773035 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3505G>T (p.Ala1169Ser) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003034444] |
Chr5:150392164 [GRCh38]
Chr5:149771727 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.4444-18G>A |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002970981] |
Chr5:150399004 [GRCh38]
Chr5:149778567 [GRCh37]
Chr5:5q32 |
benign |
| NM_001371623.1(TCOF1):c.3688C>A (p.Pro1230Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002882400] |
Chr5:150393456 [GRCh38]
Chr5:149773019 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2539G>T (p.Val847Leu) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002756058] |
Chr5:150379289 [GRCh38]
Chr5:149758852 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3092T>C (p.Ile1031Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002688949] |
Chr5:150389932 [GRCh38]
Chr5:149769495 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.2658+13G>T |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002842434] |
Chr5:150379421 [GRCh38]
Chr5:149758984 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3451G>A (p.Asp1151Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV005288812]|Treacher Collins syndrome 1 [RCV002785222]|not provided [RCV003235742] |
Chr5:150392110 [GRCh38]
Chr5:149771673 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001371623.1(TCOF1):c.2133C>T (p.Thr711=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002952569] |
Chr5:150376321 [GRCh38]
Chr5:149755884 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.3872C>T (p.Ala1291Val) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003081435] |
Chr5:150396369 [GRCh38]
Chr5:149775932 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3914G>T (p.Trp1305Leu) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002914412] |
Chr5:150396411 [GRCh38]
Chr5:149775974 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3918_3942del (p.Leu1307fs) |
deletion |
Treacher Collins syndrome 1 [RCV002871531] |
Chr5:150396411..150396435 [GRCh38]
Chr5:149775974..149775998 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.2741C>T (p.Thr914Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002870351] |
Chr5:150379614 [GRCh38]
Chr5:149759177 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2830dup (p.Glu944fs) |
duplication |
Treacher Collins syndrome 1 [RCV003039578] |
Chr5:150379699..150379700 [GRCh38]
Chr5:149759262..149759263 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.1073C>A (p.Ala358Asp) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002786017] |
Chr5:150374376 [GRCh38]
Chr5:149753939 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3442G>A (p.Asp1148Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002981073]|TCOF1-related disorder [RCV003906615]|not specified [RCV005240679] |
Chr5:150392101 [GRCh38]
Chr5:149771664 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2187G>T (p.Val729=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002640253] |
Chr5:150376467 [GRCh38]
Chr5:149756030 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.444G>A (p.Val148=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002796278] |
Chr5:150368781 [GRCh38]
Chr5:149748344 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.3546C>T (p.Thr1182=) |
single nucleotide variant |
TCOF1-related disorder [RCV003936281]|Treacher Collins syndrome 1 [RCV002591298] |
Chr5:150392733 [GRCh38]
Chr5:149772296 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1303del (p.Gln435fs) |
deletion |
Treacher Collins syndrome 1 [RCV003037129] |
Chr5:150374973 [GRCh38]
Chr5:149754536 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.2313_2316del (p.Ser771fs) |
deletion |
Treacher Collins syndrome 1 [RCV003037130] |
Chr5:150376591..150376594 [GRCh38]
Chr5:149756154..149756157 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.3856del (p.Gln1286fs) |
deletion |
Treacher Collins syndrome 1 [RCV003037131] |
Chr5:150396349 [GRCh38]
Chr5:149775912 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.3725C>T (p.Pro1242Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002925743] |
Chr5:150393493 [GRCh38]
Chr5:149773056 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3531C>G (p.Pro1177=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003079489] |
Chr5:150392718 [GRCh38]
Chr5:149772281 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1741A>C (p.Thr581Pro) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003038161] |
Chr5:150375757 [GRCh38]
Chr5:149755320 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1038A>G (p.Ser346=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002886476] |
Chr5:150374341 [GRCh38]
Chr5:149753904 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.2353G>A (p.Val785Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003375673]|TCOF1-related disorder [RCV004747116]|Treacher Collins syndrome 1 [RCV002705938] |
Chr5:150378917 [GRCh38]
Chr5:149758480 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1189G>A (p.Ala397Thr) |
single nucleotide variant |
not provided [RCV003037080] |
Chr5:150374722 [GRCh38]
Chr5:149754285 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.662C>T (p.Ala221Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002887424] |
Chr5:150372028 [GRCh38]
Chr5:149751591 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2489C>G (p.Pro830Arg) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003077612] |
Chr5:150379239 [GRCh38]
Chr5:149758802 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1748G>A (p.Ser583Asn) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003052842] |
Chr5:150375764 [GRCh38]
Chr5:149755327 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1646del (p.Ser549fs) |
deletion |
Treacher Collins syndrome 1 [RCV003054079] |
Chr5:150375496 [GRCh38]
Chr5:149755059 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.2072_2073del (p.Glu691fs) |
microsatellite |
Treacher Collins syndrome 1 [RCV003037513] |
Chr5:150376258..150376259 [GRCh38]
Chr5:149755821..149755822 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.2553del (p.Lys852fs) |
deletion |
Treacher Collins syndrome 1 [RCV002796697] |
Chr5:150379300 [GRCh38]
Chr5:149758863 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.2479-20A>G |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002913662] |
Chr5:150379209 [GRCh38]
Chr5:149758772 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1844CGGACAGTG[3] (p.Ser620_Glu621insAlaAspSer) |
microsatellite |
Treacher Collins syndrome 1 [RCV002622805] |
Chr5:150375859..150375860 [GRCh38]
Chr5:149755422..149755423 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2676G>A (p.Lys892=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002885952] |
Chr5:150379549 [GRCh38]
Chr5:149759112 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.827_844dup (p.Glu281_Glu282insGlySerGluSerGluGlu) |
duplication |
Treacher Collins syndrome 1 [RCV002846748] |
Chr5:150372182..150372183 [GRCh38]
Chr5:149751745..149751746 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2187G>A (p.Val729=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002976281] |
Chr5:150376467 [GRCh38]
Chr5:149756030 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1314C>T (p.Ala438=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003078474] |
Chr5:150374989 [GRCh38]
Chr5:149754552 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.2008G>A (p.Gly670Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002659757] |
Chr5:150376196 [GRCh38]
Chr5:149755759 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.229C>T (p.Arg77Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004070785]|Treacher Collins syndrome 1 [RCV002637573] |
Chr5:150364177 [GRCh38]
Chr5:149743740 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1841C>T (p.Ser614Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002665237] |
Chr5:150375857 [GRCh38]
Chr5:149755420 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.345G>A (p.Ala115=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002933313] |
Chr5:150367884 [GRCh38]
Chr5:149747447 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.346G>A (p.Asp116Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002830572] |
Chr5:150367885 [GRCh38]
Chr5:149747448 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.108+11G>T |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003055899] |
Chr5:150357865 [GRCh38]
Chr5:149737428 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.4120G>T (p.Gly1374Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV005281277]|Treacher Collins syndrome 1 [RCV002982655] |
Chr5:150396617 [GRCh38]
Chr5:149776180 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2897G>A (p.Arg966His) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002914719] |
Chr5:150387939 [GRCh38]
Chr5:149767502 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2142+19G>C |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003056780] |
Chr5:150376349 [GRCh38]
Chr5:149755912 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1084-19_1084-18del |
deletion |
Treacher Collins syndrome 1 [RCV002666569] |
Chr5:150374596..150374597 [GRCh38]
Chr5:149754159..149754160 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.3184-19T>C |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002890411] |
Chr5:150391525 [GRCh38]
Chr5:149771088 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.930C>G (p.Thr310=) |
single nucleotide variant |
TCOF1-related disorder [RCV003903789]|Treacher Collins syndrome 1 [RCV002894757] |
Chr5:150374233 [GRCh38]
Chr5:149753796 [GRCh37]
Chr5:5q32 |
benign|likely benign |
| NM_001371623.1(TCOF1):c.4036C>T (p.Arg1346Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002745063]|Treacher Collins syndrome 1 [RCV003645939]|not provided [RCV005254731] |
Chr5:150396533 [GRCh38]
Chr5:149776096 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1605A>T (p.Ser535=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002932434] |
Chr5:150375455 [GRCh38]
Chr5:149755018 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.293C>T (p.Thr98Ile) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003025927] |
Chr5:150364241 [GRCh38]
Chr5:149743804 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1624G>A (p.Glu542Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002827823] |
Chr5:150375474 [GRCh38]
Chr5:149755037 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1268C>T (p.Ala423Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002803982] |
Chr5:150374801 [GRCh38]
Chr5:149754364 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3608_3609del (p.Leu1203fs) |
microsatellite |
Treacher Collins syndrome 1 [RCV002872494] |
Chr5:150393372..150393373 [GRCh38]
Chr5:149772935..149772936 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.2659G>C (p.Val887Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002745009] |
Chr5:150379532 [GRCh38]
Chr5:149759095 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3195G>C (p.Lys1065Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002891600] |
Chr5:150391555 [GRCh38]
Chr5:149771118 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3658T>C (p.Ser1220Pro) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002918378] |
Chr5:150393426 [GRCh38]
Chr5:149772989 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1569A>G (p.Pro523=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003082430] |
Chr5:150375419 [GRCh38]
Chr5:149754982 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.928A>C (p.Thr310Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002674977]|Treacher Collins syndrome 1 [RCV003140219] |
Chr5:150374231 [GRCh38]
Chr5:149753794 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1280C>A (p.Ala427Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002812992] |
Chr5:150374955 [GRCh38]
Chr5:149754518 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3366C>G (p.Thr1122=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003026907] |
Chr5:150392025 [GRCh38]
Chr5:149771588 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.294C>T (p.Thr98=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003061090] |
Chr5:150364242 [GRCh38]
Chr5:149743805 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1113C>G (p.Val371=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002649311] |
Chr5:150374646 [GRCh38]
Chr5:149754209 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.2560G>A (p.Val854Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004066064]|Treacher Collins syndrome 1 [RCV002895475]|not provided [RCV003327578] |
Chr5:150379310 [GRCh38]
Chr5:149758873 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.4209G>A (p.Lys1403=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003090644] |
Chr5:150396706 [GRCh38]
Chr5:149776269 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.2314G>A (p.Glu772Lys) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003046409] |
Chr5:150376594 [GRCh38]
Chr5:149756157 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3046+17T>C |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003065010] |
Chr5:150388105 [GRCh38]
Chr5:149767668 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.4154C>T (p.Thr1385Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002936643]|Treacher Collins syndrome 1 [RCV005099900] |
Chr5:150396651 [GRCh38]
Chr5:149776214 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001371623.1(TCOF1):c.1216C>T (p.Arg406Trp) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002966087]|not provided [RCV003434537] |
Chr5:150374749 [GRCh38]
Chr5:149754312 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001371623.1(TCOF1):c.305-4G>C |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003009262] |
Chr5:150367840 [GRCh38]
Chr5:149747403 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.129C>G (p.Pro43=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003086803] |
Chr5:150361176 [GRCh38]
Chr5:149740739 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1250C>T (p.Ser417Leu) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003029388] |
Chr5:150374783 [GRCh38]
Chr5:149754346 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2935C>T (p.Gln979Ter) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002898715] |
Chr5:150387977 [GRCh38]
Chr5:149767540 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.3888C>T (p.Ile1296=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002856870] |
Chr5:150396385 [GRCh38]
Chr5:149775948 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.390_391del (p.Lys131fs) |
microsatellite |
Treacher Collins syndrome 1 [RCV003060017] |
Chr5:150368724..150368725 [GRCh38]
Chr5:149748287..149748288 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.4345+10C>T |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002943011] |
Chr5:150396852 [GRCh38]
Chr5:149776415 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.2348C>A (p.Thr783Asn) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003068554] |
Chr5:150378912 [GRCh38]
Chr5:149758475 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.181C>T (p.Arg61Trp) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002588237] |
Chr5:150364129 [GRCh38]
Chr5:149743692 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1320G>A (p.Ser440=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003051227] |
Chr5:150374995 [GRCh38]
Chr5:149754558 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.288C>T (p.Ala96=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002587693] |
Chr5:150364236 [GRCh38]
Chr5:149743799 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.2862G>A (p.Val954=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002612251] |
Chr5:150387904 [GRCh38]
Chr5:149767467 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.3785-14T>G |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002612384] |
Chr5:150396268 [GRCh38]
Chr5:149775831 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.622G>A (p.Asp208Asn) |
single nucleotide variant |
not provided [RCV004778196] |
Chr5:150369585 [GRCh38]
Chr5:149749148 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.688A>T (p.Thr230Ser) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV005105006]|not provided [RCV004779619] |
Chr5:150372054 [GRCh38]
Chr5:149751617 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2549_2550del (p.Val850fs) |
microsatellite |
Treacher Collins syndrome 1 [RCV004795446] |
Chr5:150379297..150379298 [GRCh38]
Chr5:149758860..149758861 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.999_1000insT (p.Lys334Ter) |
insertion |
Treacher Collins syndrome 1 [RCV003228232] |
Chr5:150374302..150374303 [GRCh38]
Chr5:149753865..149753866 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.1540A>G (p.Met514Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003189139] |
Chr5:150375390 [GRCh38]
Chr5:149754953 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.53T>C (p.Leu18Pro) |
single nucleotide variant |
not provided [RCV003219097] |
Chr5:150357799 [GRCh38]
Chr5:149737362 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2928dup (p.Gln977fs) |
duplication |
Treacher Collins syndrome 1 [RCV005410067] |
Chr5:150387969..150387970 [GRCh38]
Chr5:149767532..149767533 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.206C>T (p.Ala69Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003287043] |
Chr5:150364154 [GRCh38]
Chr5:149743717 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1106C>T (p.Ser369Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003190769] |
Chr5:150374639 [GRCh38]
Chr5:149754202 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.4092G>T (p.Lys1364Asn) |
single nucleotide variant |
not provided [RCV003227319] |
Chr5:150396589 [GRCh38]
Chr5:149776152 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2717C>T (p.Ser906Phe) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003140944] |
Chr5:150379590 [GRCh38]
Chr5:149759153 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1243G>A (p.Glu415Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004673856]|Treacher Collins syndrome 1 [RCV003140945] |
Chr5:150374776 [GRCh38]
Chr5:149754339 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1634C>G (p.Ser545Ter) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003142496] |
Chr5:150375484 [GRCh38]
Chr5:149755047 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.3043C>A (p.Pro1015Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003198025]|Treacher Collins syndrome 1 [RCV003779675] |
Chr5:150388085 [GRCh38]
Chr5:149767648 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3170G>A (p.Gly1057Glu) |
single nucleotide variant |
not provided [RCV003221610] |
Chr5:150390010 [GRCh38]
Chr5:149769573 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1298C>T (p.Ala433Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003184785]|Treacher Collins syndrome 1 [RCV003530291]|not provided [RCV005235700] |
Chr5:150374973 [GRCh38]
Chr5:149754536 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001371623.1(TCOF1):c.323C>T (p.Thr108Ile) |
single nucleotide variant |
not provided [RCV003228537] |
Chr5:150367862 [GRCh38]
Chr5:149747425 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1653_1655del (p.Ser553del) |
deletion |
not provided [RCV003225544] |
Chr5:150375503..150375505 [GRCh38]
Chr5:149755066..149755068 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.4052C>T (p.Ser1351Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003173425]|TCOF1-related disorder [RCV003966286]|Treacher Collins syndrome 1 [RCV003530290]|Treacher Collins syndrome [RCV005363081] |
Chr5:150396549 [GRCh38]
Chr5:149776112 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3796G>A (p.Ala1266Thr) |
single nucleotide variant |
not provided [RCV003319733] |
Chr5:150396293 [GRCh38]
Chr5:149775856 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1849_1850del (p.Ser617fs) |
deletion |
Treacher Collins syndrome 1 [RCV003455888] |
Chr5:150375865..150375866 [GRCh38]
Chr5:149755428..149755429 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001371623.1(TCOF1):c.2490del (p.Pro830_Val831insTer) |
deletion |
Treacher Collins syndrome [RCV003319288] |
Chr5:150379240 [GRCh38]
Chr5:149758803 [GRCh37]
Chr5:5q32 |
not provided |
| NM_001371623.1(TCOF1):c.2853dup (p.Ala952fs) |
duplication |
Treacher Collins syndrome [RCV003319289] |
Chr5:150379725..150379726 [GRCh38]
Chr5:149759288..149759289 [GRCh37]
Chr5:5q32 |
not provided |
| NM_001371623.1(TCOF1):c.158G>A (p.Trp53Ter) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003327320] |
Chr5:150361205 [GRCh38]
Chr5:149740768 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001371623.1(TCOF1):c.3163C>T (p.Gln1055Ter) |
single nucleotide variant |
not provided [RCV003325895] |
Chr5:150390003 [GRCh38]
Chr5:149769566 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.3953A>G (p.Lys1318Arg) |
single nucleotide variant |
TCOF1-related disorder [RCV003422435] |
Chr5:150396450 [GRCh38]
Chr5:149776013 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2950C>T (p.Pro984Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003354340] |
Chr5:150387992 [GRCh38]
Chr5:149767555 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3398T>G (p.Val1133Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003370749] |
Chr5:150392057 [GRCh38]
Chr5:149771620 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.3763G>T (p.Gly1255Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003386204] |
Chr5:150393531 [GRCh38]
Chr5:149773094 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.4040A>G (p.Lys1347Arg) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003448937] |
Chr5:150396537 [GRCh38]
Chr5:149776100 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2952G>T (p.Pro984=) |
single nucleotide variant |
not provided [RCV003429903] |
Chr5:150387994 [GRCh38]
Chr5:149767557 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.431C>T (p.Thr144Ile) |
single nucleotide variant |
TCOF1-related disorder [RCV003399514]|Treacher Collins syndrome 1 [RCV005104292] |
Chr5:150368768 [GRCh38]
Chr5:149748331 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.37del (p.Pro12_Leu13insTer) |
deletion |
not provided [RCV003480431] |
Chr5:150357780 [GRCh38]
Chr5:149737343 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001371623.1(TCOF1):c.1978C>T (p.Arg660Ter) |
single nucleotide variant |
not provided [RCV003442238] |
Chr5:150376166 [GRCh38]
Chr5:149755729 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.3437G>A (p.Ser1146Asn) |
single nucleotide variant |
not provided [RCV003481776] |
Chr5:150392096 [GRCh38]
Chr5:149771659 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.953C>T (p.Ala318Val) |
single nucleotide variant |
not provided [RCV003429900] |
Chr5:150374256 [GRCh38]
Chr5:149753819 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2745_2750delinsAACC (p.Pro916fs) |
indel |
Treacher Collins syndrome 1 [RCV004795655] |
Chr5:150379618..150379623 [GRCh38]
Chr5:149759181..149759186 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.4360delinsAAAAAGACAAAAAA (p.Glu1454fs) |
indel |
Treacher Collins syndrome 1 [RCV003448939] |
Chr5:150398368 [GRCh38]
Chr5:149777931 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001371623.1(TCOF1):c.3754del (p.Gln1252fs) |
deletion |
Treacher Collins syndrome 1 [RCV003405211] |
Chr5:150393522 [GRCh38]
Chr5:149773085 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001371623.1(TCOF1):c.3183G>C (p.Gln1061His) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003405212] |
Chr5:150390023 [GRCh38]
Chr5:149769586 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.1729C>G (p.Gln577Glu) |
single nucleotide variant |
TCOF1-related disorder [RCV004747291]|not specified [RCV003404729] |
Chr5:150375745 [GRCh38]
Chr5:149755308 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.646C>A (p.Pro216Thr) |
single nucleotide variant |
not provided [RCV003429899] |
Chr5:150372012 [GRCh38]
Chr5:149751575 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1853C>T (p.Ala618Val) |
single nucleotide variant |
TCOF1-related disorder [RCV003416718] |
Chr5:150375869 [GRCh38]
Chr5:149755432 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.78G>A (p.Ala26=) |
single nucleotide variant |
not provided [RCV003429898] |
Chr5:150357824 [GRCh38]
Chr5:149737387 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.802G>A (p.Glu268Lys) |
single nucleotide variant |
TCOF1-related disorder [RCV003404485] |
Chr5:150372168 [GRCh38]
Chr5:149751731 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.102_103delinsTAAGCTGCACCAC (p.Gly35fs) |
indel |
TCOF1-related disorder [RCV003402267] |
Chr5:150357848..150357849 [GRCh38]
Chr5:149737411..149737412 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001371623.1(TCOF1):c.1975G>C (p.Val659Leu) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003445315] |
Chr5:150376163 [GRCh38]
Chr5:149755726 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1776A>C (p.Ala592=) |
single nucleotide variant |
not provided [RCV003429901] |
Chr5:150375792 [GRCh38]
Chr5:149755355 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.2859+6A>G |
single nucleotide variant |
not provided [RCV003429902] |
Chr5:150379738 [GRCh38]
Chr5:149759301 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.3182A>G (p.Gln1061Arg) |
single nucleotide variant |
not provided [RCV003442536] |
Chr5:150390022 [GRCh38]
Chr5:149769585 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2306C>A (p.Ser769Ter) |
single nucleotide variant |
TCOF1-related disorder [RCV003391474] |
Chr5:150376586 [GRCh38]
Chr5:149756149 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001371623.1(TCOF1):c.3240C>T (p.Leu1080=) |
single nucleotide variant |
not provided [RCV003428673] |
Chr5:150391600 [GRCh38]
Chr5:149771163 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.4254A>G (p.Pro1418=) |
single nucleotide variant |
not provided [RCV003428674] |
Chr5:150396751 [GRCh38]
Chr5:149776314 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.871-15T>C |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003530435] |
Chr5:150374159 [GRCh38]
Chr5:149753722 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3450C>T (p.Ser1150=) |
single nucleotide variant |
TCOF1-related disorder [RCV003929235]|Treacher Collins syndrome 1 [RCV003530722] |
Chr5:150392109 [GRCh38]
Chr5:149771672 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.4434GAA[1] (p.Lys1483del) |
microsatellite |
Treacher Collins syndrome 1 [RCV003530839] |
Chr5:150398440..150398442 [GRCh38]
Chr5:149778003..149778005 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2838G>A (p.Pro946=) |
single nucleotide variant |
TCOF1-related disorder [RCV003939105]|Treacher Collins syndrome 1 [RCV003530841] |
Chr5:150379711 [GRCh38]
Chr5:149759274 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.3003C>T (p.Ser1001=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003530845] |
Chr5:150388045 [GRCh38]
Chr5:149767608 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.3614C>T (p.Ser1205Leu) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003530451] |
Chr5:150393382 [GRCh38]
Chr5:149772945 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1955C>T (p.Ala652Val) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003646377] |
Chr5:150376143 [GRCh38]
Chr5:149755706 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1823C>T (p.Ser608Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004673917]|Treacher Collins syndrome 1 [RCV003530859] |
Chr5:150375839 [GRCh38]
Chr5:149755402 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.109-8C>G |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003530864] |
Chr5:150361148 [GRCh38]
Chr5:149740711 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001371623.1(TCOF1):c.4345+11G>C |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003530869] |
Chr5:150396853 [GRCh38]
Chr5:149776416 [GRCh37]
Chr5:5q32 |
likely benign |
| NC_000005.10:g.150374956_150374973del |
deletion |
Treacher Collins syndrome 1 [RCV003646553] |
Chr5:150374952..150374969 [GRCh38]
Chr5:149754515..149754532 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3530_3531delinsGT (p.Pro1177Arg) |
indel |
Treacher Collins syndrome 1 [RCV003646564] |
Chr5:150392717..150392718 [GRCh38]
Chr5:149772280..149772281 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.434G>A (p.Gly145Glu) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003530614]|not provided [RCV004696545] |
Chr5:150368771 [GRCh38]
Chr5:149748334 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2807G>A (p.Ser936Asn) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003530519] |
Chr5:150379680 [GRCh38]
Chr5:149759243 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1931G>A (p.Cys644Tyr) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003530745] |
Chr5:150376119 [GRCh38]
Chr5:149755682 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.2781G>A (p.Gly927=) |
single nucleotide variant |
TCOF1-related disorder [RCV003954238]|Treacher Collins syndrome 1 [RCV003530634] |
Chr5:150379654 [GRCh38]
Chr5:149759217 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1894-15T>C |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003530751] |
Chr5:150376067 [GRCh38]
Chr5:149755630 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.2249C>T (p.Thr750Ile) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003530763] |
Chr5:150376529 [GRCh38]
Chr5:149756092 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1614G>A (p.Val538=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003530481] |
Chr5:150375464 [GRCh38]
Chr5:149755027 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.441G>A (p.Thr147=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003530482] |
Chr5:150368778 [GRCh38]
Chr5:149748341 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1489-17T>C |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003530921] |
Chr5:150375322 [GRCh38]
Chr5:149754885 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.2347dup (p.Thr783fs) |
duplication |
Treacher Collins syndrome 1 [RCV003529914] |
Chr5:150378907..150378908 [GRCh38]
Chr5:149758470..149758471 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.4171G>A (p.Ala1391Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004963714]|Treacher Collins syndrome 1 [RCV003530806] |
Chr5:150396668 [GRCh38]
Chr5:149776231 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2018C>A (p.Thr673Asn) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003530924] |
Chr5:150376206 [GRCh38]
Chr5:149755769 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1A>T (p.Met1Leu) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003530928] |
Chr5:150357747 [GRCh38]
Chr5:149737310 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.4029G>A (p.Trp1343Ter) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003530929] |
Chr5:150396526 [GRCh38]
Chr5:149776089 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.1538G>A (p.Gly513Asp) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003647117] |
Chr5:150375388 [GRCh38]
Chr5:149754951 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.995C>A (p.Ala332Glu) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003530521] |
Chr5:150374298 [GRCh38]
Chr5:149753861 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.566-10C>T |
single nucleotide variant |
TCOF1-related disorder [RCV003919270]|Treacher Collins syndrome 1 [RCV003530696] |
Chr5:150369519 [GRCh38]
Chr5:149749082 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1279-10C>T |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003646217] |
Chr5:150374944 [GRCh38]
Chr5:149754507 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1108C>G (p.Gln370Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004371602]|Treacher Collins syndrome 1 [RCV003646133] |
Chr5:150374641 [GRCh38]
Chr5:149754204 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1705-4C>T |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003646764] |
Chr5:150375717 [GRCh38]
Chr5:149755280 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.2389G>A (p.Ala797Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004673939]|Treacher Collins syndrome 1 [RCV003646216] |
Chr5:150378953 [GRCh38]
Chr5:149758516 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001371623.1(TCOF1):c.1999C>T (p.Arg667Trp) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003647017] |
Chr5:150376187 [GRCh38]
Chr5:149755750 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001371623.1(TCOF1):c.2016G>A (p.Ala672=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003646960] |
Chr5:150376204 [GRCh38]
Chr5:149755767 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.2808C>T (p.Ser936=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003647145] |
Chr5:150379681 [GRCh38]
Chr5:149759244 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.3979G>A (p.Glu1327Lys) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003645969] |
Chr5:150396476 [GRCh38]
Chr5:149776039 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1893+8C>T |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003645972] |
Chr5:150375917 [GRCh38]
Chr5:149755480 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.4125G>A (p.Glu1375=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003646656] |
Chr5:150396622 [GRCh38]
Chr5:149776185 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.130G>A (p.Val44Ile) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003646011] |
Chr5:150361177 [GRCh38]
Chr5:149740740 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.4380G>A (p.Lys1460=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003646473] |
Chr5:150398388 [GRCh38]
Chr5:149777951 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.4378A>G (p.Lys1460Glu) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003646572] |
Chr5:150398386 [GRCh38]
Chr5:149777949 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1629G>A (p.Glu543=) |
single nucleotide variant |
TCOF1-related disorder [RCV003909138]|Treacher Collins syndrome 1 [RCV003647176] |
Chr5:150375479 [GRCh38]
Chr5:149755042 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.108G>A (p.Gln36=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003646634] |
Chr5:150357854 [GRCh38]
Chr5:149737417 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.165-19A>G |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003529799] |
Chr5:150364094 [GRCh38]
Chr5:149743657 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.3517+20G>A |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003646124] |
Chr5:150392196 [GRCh38]
Chr5:149771759 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.3889dup (p.Thr1297fs) |
duplication |
Treacher Collins syndrome 1 [RCV003646283] |
Chr5:150396385..150396386 [GRCh38]
Chr5:149775948..149775949 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.3880A>C (p.Ser1294Arg) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003646837] |
Chr5:150396377 [GRCh38]
Chr5:149775940 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001371623.1(TCOF1):c.4186G>T (p.Ala1396Ser) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003646306] |
Chr5:150396683 [GRCh38]
Chr5:149776246 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.639+18C>G |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003529871] |
Chr5:150369620 [GRCh38]
Chr5:149749183 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.2340+11G>A |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003529913] |
Chr5:150376631 [GRCh38]
Chr5:149756194 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.347A>T (p.Asp116Val) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003646495] |
Chr5:150367886 [GRCh38]
Chr5:149747449 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1704+9C>T |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003646530] |
Chr5:150375563 [GRCh38]
Chr5:149755126 [GRCh37]
Chr5:5q32 |
benign |
| NM_001371623.1(TCOF1):c.2809G>A (p.Glu937Lys) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003646649] |
Chr5:150379682 [GRCh38]
Chr5:149759245 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.457T>G (p.Ser153Ala) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003646454] |
Chr5:150368794 [GRCh38]
Chr5:149748357 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.3183+18G>A |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003647096] |
Chr5:150390041 [GRCh38]
Chr5:149769604 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.255G>A (p.Ser85=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003647122] |
Chr5:150364203 [GRCh38]
Chr5:149743766 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1488+17C>T |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003882168] |
Chr5:150375180 [GRCh38]
Chr5:149754743 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.2478+5G>T |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003646514] |
Chr5:150379047 [GRCh38]
Chr5:149758610 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.2689A>T (p.Arg897Ter) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003646541] |
Chr5:150379562 [GRCh38]
Chr5:149759125 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.3991G>A (p.Val1331Met) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003647184] |
Chr5:150396488 [GRCh38]
Chr5:149776051 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.2910C>A (p.Gly970=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003646762] |
Chr5:150387952 [GRCh38]
Chr5:149767515 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.4249G>C (p.Glu1417Gln) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003646651] |
Chr5:150396746 [GRCh38]
Chr5:149776309 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1636G>A (p.Glu546Lys) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003646793] |
Chr5:150375486 [GRCh38]
Chr5:149755049 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.4443+12C>T |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003647219] |
Chr5:150398463 [GRCh38]
Chr5:149778026 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1084-18C>G |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003646012] |
Chr5:150374599 [GRCh38]
Chr5:149754162 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1122C>T (p.Ala374=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003646052] |
Chr5:150374655 [GRCh38]
Chr5:149754218 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1464A>G (p.Ala488=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003646849] |
Chr5:150375139 [GRCh38]
Chr5:149754702 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1188T>C (p.Pro396=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003646851] |
Chr5:150374721 [GRCh38]
Chr5:149754284 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.307C>G (p.Pro103Ala) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003646136] |
Chr5:150367846 [GRCh38]
Chr5:149747409 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3654G>A (p.Gln1218=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003646093] |
Chr5:150393422 [GRCh38]
Chr5:149772985 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.2416A>C (p.Ile806Leu) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003646214] |
Chr5:150378980 [GRCh38]
Chr5:149758543 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1597A>G (p.Thr533Ala) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003882226] |
Chr5:150375447 [GRCh38]
Chr5:149755010 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3297+10G>A |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003646967] |
Chr5:150391667 [GRCh38]
Chr5:149771230 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1114G>A (p.Gly372Arg) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003531020] |
Chr5:150374647 [GRCh38]
Chr5:149754210 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001371623.1(TCOF1):c.3674dup (p.Leu1226fs) |
duplication |
Treacher Collins syndrome 1 [RCV003531332] |
Chr5:150393440..150393441 [GRCh38]
Chr5:149773003..149773004 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.1094C>A (p.Ser365Ter) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV005055424] |
Chr5:150374627 [GRCh38]
Chr5:149754190 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001371623.1(TCOF1):c.2977A>G (p.Thr993Ala) |
single nucleotide variant |
not provided [RCV004588907] |
Chr5:150388019 [GRCh38]
Chr5:149767582 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3282C>G (p.Thr1094=) |
single nucleotide variant |
TCOF1-related disorder [RCV003901201]|Treacher Collins syndrome 1 [RCV003531060] |
Chr5:150391642 [GRCh38]
Chr5:149771205 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.3003C>G (p.Ser1001Arg) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003531375] |
Chr5:150388045 [GRCh38]
Chr5:149767608 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2142+2T>C |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003531064] |
Chr5:150376332 [GRCh38]
Chr5:149755895 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001371623.1(TCOF1):c.3951G>A (p.Val1317=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003531334] |
Chr5:150396448 [GRCh38]
Chr5:149776011 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.2623_2640del (p.Ser875_Glu880del) |
deletion |
Treacher Collins syndrome 1 [RCV003531221] |
Chr5:150379360..150379377 [GRCh38]
Chr5:149758923..149758940 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2630G>A (p.Ser877Asn) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003531325]|not provided [RCV004775444] |
Chr5:150379380 [GRCh38]
Chr5:149758943 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.4021A>C (p.Lys1341Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004673995]|Treacher Collins syndrome 1 [RCV003860288] |
Chr5:150396518 [GRCh38]
Chr5:149776081 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.791A>G (p.Lys264Arg) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003821640] |
Chr5:150372157 [GRCh38]
Chr5:149751720 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3604-13T>C |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003844369] |
Chr5:150393359 [GRCh38]
Chr5:149772922 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1468G>A (p.Ala490Thr) |
single nucleotide variant |
TCOF1-related disorder [RCV003892256] |
Chr5:150375143 [GRCh38]
Chr5:149754706 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1997C>A (p.Pro666His) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003842636] |
Chr5:150376185 [GRCh38]
Chr5:149755748 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.440C>T (p.Thr147Met) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003840909] |
Chr5:150368777 [GRCh38]
Chr5:149748340 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.931C>T (p.Pro311Ser) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003822861] |
Chr5:150374234 [GRCh38]
Chr5:149753797 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.570G>A (p.Met190Ile) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003863586] |
Chr5:150369533 [GRCh38]
Chr5:149749096 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.4123G>T (p.Glu1375Ter) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003989921] |
Chr5:150396620 [GRCh38]
Chr5:149776183 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001371623.1(TCOF1):c.1413G>A (p.Gln471=) |
single nucleotide variant |
TCOF1-related disorder [RCV003944567] |
Chr5:150375088 [GRCh38]
Chr5:149754651 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.3052del (p.Arg1018fs) |
deletion |
Treacher Collins syndrome 1 [RCV003991894] |
Chr5:150389892 [GRCh38]
Chr5:149769455 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001371623.1(TCOF1):c.1974del (p.Val659fs) |
deletion |
TCOF1-related disorder [RCV003983384] |
Chr5:150376162 [GRCh38]
Chr5:149755725 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001371623.1(TCOF1):c.771G>A (p.Leu257=) |
single nucleotide variant |
TCOF1-related disorder [RCV003901360] |
Chr5:150372137 [GRCh38]
Chr5:149751700 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.2312G>A (p.Ser771Asn) |
single nucleotide variant |
TCOF1-related disorder [RCV003926779] |
Chr5:150376592 [GRCh38]
Chr5:149756155 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.4293T>C (p.Gly1431=) |
single nucleotide variant |
TCOF1-related disorder [RCV003903942] |
Chr5:150396790 [GRCh38]
Chr5:149776353 [GRCh37]
Chr5:5q32 |
benign |
| NM_001371623.1(TCOF1):c.3873G>A (p.Ala1291=) |
single nucleotide variant |
TCOF1-related disorder [RCV003964562] |
Chr5:150396370 [GRCh38]
Chr5:149775933 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.108+1G>A |
single nucleotide variant |
TCOF1-related disorder [RCV003983363] |
Chr5:150357855 [GRCh38]
Chr5:149737418 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001371623.1(TCOF1):c.2860-1G>A |
single nucleotide variant |
TCOF1-related disorder [RCV003983446] |
Chr5:150387901 [GRCh38]
Chr5:149767464 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.1353T>G (p.Ala451=) |
single nucleotide variant |
TCOF1-related disorder [RCV003963979] |
Chr5:150375028 [GRCh38]
Chr5:149754591 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.3375C>T (p.Leu1125=) |
single nucleotide variant |
TCOF1-related disorder [RCV003922013] |
Chr5:150392034 [GRCh38]
Chr5:149771597 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.381A>G (p.Ala127=) |
single nucleotide variant |
TCOF1-related disorder [RCV003962274] |
Chr5:150368718 [GRCh38]
Chr5:149748281 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1791C>T (p.Val597=) |
single nucleotide variant |
TCOF1-related disorder [RCV003966754]|Treacher Collins syndrome 1 [RCV005064891] |
Chr5:150375807 [GRCh38]
Chr5:149755370 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.714G>A (p.Ala238=) |
single nucleotide variant |
TCOF1-related disorder [RCV003974203] |
Chr5:150372080 [GRCh38]
Chr5:149751643 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.3840_3841del (p.Ala1282fs) |
deletion |
Treacher Collins syndrome 1 [RCV003887827] |
Chr5:150396337..150396338 [GRCh38]
Chr5:149775900..149775901 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001371623.1(TCOF1):c.207G>A (p.Ala69=) |
single nucleotide variant |
TCOF1-related disorder [RCV003982085] |
Chr5:150364155 [GRCh38]
Chr5:149743718 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1017dup (p.Glu340fs) |
duplication |
Treacher Collins syndrome 1 [RCV004554927]|not provided [RCV003887294] |
Chr5:150374319..150374320 [GRCh38]
Chr5:149753882..149753883 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.3629del (p.Pro1210fs) |
deletion |
Treacher Collins syndrome 1 [RCV003988419] |
Chr5:150393394 [GRCh38]
Chr5:149772957 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.1152dup (p.Gly385fs) |
duplication |
TCOF1-related disorder [RCV003913911] |
Chr5:150374682..150374683 [GRCh38]
Chr5:149754245..149754246 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001371623.1(TCOF1):c.2422G>T (p.Ala808Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004466645] |
Chr5:150378986 [GRCh38]
Chr5:149758549 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2548G>A (p.Val850Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004466647] |
Chr5:150379298 [GRCh38]
Chr5:149758861 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3043C>G (p.Pro1015Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004466651] |
Chr5:150388085 [GRCh38]
Chr5:149767648 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1484C>T (p.Ala495Val) |
single nucleotide variant |
not provided [RCV004585742] |
Chr5:150375159 [GRCh38]
Chr5:149754722 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3328A>G (p.Thr1110Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004466653] |
Chr5:150391987 [GRCh38]
Chr5:149771550 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2629_2648del (p.Ser877fs) |
deletion |
Treacher Collins syndrome 1 [RCV004547192] |
Chr5:150379375..150379394 [GRCh38]
Chr5:149758938..149758957 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001371623.1(TCOF1):c.1855G>T (p.Asp619Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV004466644] |
Chr5:150375871 [GRCh38]
Chr5:149755434 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2398C>G (p.Pro800Ala) |
single nucleotide variant |
not specified [RCV004586208] |
Chr5:150378962 [GRCh38]
Chr5:149758525 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.263C>T (p.Ser88Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004466648] |
Chr5:150364211 [GRCh38]
Chr5:149743774 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3026C>T (p.Ala1009Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004466650] |
Chr5:150388068 [GRCh38]
Chr5:149767631 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3844G>T (p.Ala1282Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004466655] |
Chr5:150396341 [GRCh38]
Chr5:149775904 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.4331A>C (p.Lys1444Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004466656] |
Chr5:150396828 [GRCh38]
Chr5:149776391 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2447C>T (p.Ala816Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004466646] |
Chr5:150379011 [GRCh38]
Chr5:149758574 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2926G>A (p.Ala976Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004466649] |
Chr5:150387968 [GRCh38]
Chr5:149767531 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.4286T>C (p.Val1429Ala) |
single nucleotide variant |
not provided [RCV004592251] |
Chr5:150396783 [GRCh38]
Chr5:149776346 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.4195G>T (p.Asp1399Tyr) |
single nucleotide variant |
not provided [RCV004588846] |
Chr5:150396692 [GRCh38]
Chr5:149776255 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.896A>G (p.Gln299Arg) |
single nucleotide variant |
TCOF1-related disorder [RCV004747441]|not provided [RCV004590738] |
Chr5:150374199 [GRCh38]
Chr5:149753762 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NC_000005.9:g.(?_149776191)_(149778631_?)del |
deletion |
Treacher Collins syndrome 1 [RCV004580528] |
Chr5:149776191..149778631 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.2593G>A (p.Glu865Lys) |
single nucleotide variant |
not provided [RCV004591982] |
Chr5:150379343 [GRCh38]
Chr5:149758906 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3613_3614del (p.Ser1205fs) |
microsatellite |
Treacher Collins syndrome 1 [RCV004586472] |
Chr5:150393378..150393379 [GRCh38]
Chr5:149772941..149772942 [GRCh37]
Chr5:5q32 |
pathogenic |
| NC_000005.9:g.(?_149737310)_(149743835_?)del |
deletion |
Treacher Collins syndrome 1 [RCV004580527] |
Chr5:149737310..149743835 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.3G>A (p.Met1Ile) |
single nucleotide variant |
not provided [RCV004698163] |
Chr5:150357749 [GRCh38]
Chr5:149737312 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.4030G>T (p.Glu1344Ter) |
single nucleotide variant |
not provided [RCV004698164] |
Chr5:150396527 [GRCh38]
Chr5:149776090 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.3378A>C (p.Arg1126Ser) |
single nucleotide variant |
TCOF1-related disorder [RCV004727943] |
Chr5:150392037 [GRCh38]
Chr5:149771600 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1146dup (p.Arg383fs) |
duplication |
TCOF1-related disorder [RCV004724610] |
Chr5:150374674..150374675 [GRCh38]
Chr5:149754237..149754238 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.2900G>T (p.Ser967Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV005291098]|not provided [RCV004722163] |
Chr5:150387942 [GRCh38]
Chr5:149767505 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2510G>A (p.Ser837Asn) |
single nucleotide variant |
not provided [RCV004725943] |
Chr5:150379260 [GRCh38]
Chr5:149758823 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1401G>C (p.Gln467His) |
single nucleotide variant |
not provided [RCV004760212] |
Chr5:150375076 [GRCh38]
Chr5:149754639 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2635G>A (p.Glu879Lys) |
single nucleotide variant |
TCOF1-related disorder [RCV004726242] |
Chr5:150379385 [GRCh38]
Chr5:149758948 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.344C>T (p.Ala115Val) |
single nucleotide variant |
not provided [RCV004775909] |
Chr5:150367883 [GRCh38]
Chr5:149747446 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1857_1865dup (p.Glu621_Glu622insAspSerGlu) |
duplication |
not provided [RCV004781030] |
Chr5:150375869..150375870 [GRCh38]
Chr5:149755432..149755433 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.739del (p.Asp247fs) |
deletion |
Treacher Collins syndrome 1 [RCV004771401] |
Chr5:150372101 [GRCh38]
Chr5:149751664 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001371623.1(TCOF1):c.1565G>T (p.Gly522Val) |
single nucleotide variant |
not provided [RCV004781452] |
Chr5:150375415 [GRCh38]
Chr5:149754978 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.725C>G (p.Pro242Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV005291106]|TCOF1-related disorder [RCV004746924] |
Chr5:150372091 [GRCh38]
Chr5:149751654 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2349C>G (p.Thr783=) |
single nucleotide variant |
not provided [RCV004811229] |
Chr5:150378913 [GRCh38]
Chr5:149758476 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.3244C>G (p.Gln1082Glu) |
single nucleotide variant |
not provided [RCV004771865] |
Chr5:150391604 [GRCh38]
Chr5:149771167 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.304+2T>A |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV004759647] |
Chr5:150364254 [GRCh38]
Chr5:149743817 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.1044C>G (p.Asp348Glu) |
single nucleotide variant |
TCOF1-related disorder [RCV004747618]|Treacher Collins syndrome 1 [RCV005103689] |
Chr5:150374347 [GRCh38]
Chr5:149753910 [GRCh37]
Chr5:5q32 |
likely benign|uncertain significance |
| NM_001371623.1(TCOF1):c.3890C>T (p.Thr1297Ile) |
single nucleotide variant |
not provided [RCV004769212] |
Chr5:150396387 [GRCh38]
Chr5:149775950 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3995T>C (p.Val1332Ala) |
single nucleotide variant |
not provided [RCV004769402] |
Chr5:150396492 [GRCh38]
Chr5:149776055 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3004G>A (p.Glu1002Lys) |
single nucleotide variant |
not provided [RCV004724054] |
Chr5:150388046 [GRCh38]
Chr5:149767609 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2086A>T (p.Ser696Cys) |
single nucleotide variant |
not provided [RCV004770468] |
Chr5:150376274 [GRCh38]
Chr5:149755837 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2223A>G (p.Pro741=) |
single nucleotide variant |
TCOF1-related disorder [RCV004745811] |
Chr5:150376503 [GRCh38]
Chr5:149756066 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.2695G>T (p.Ala899Ser) |
single nucleotide variant |
not provided [RCV004770897] |
Chr5:150379568 [GRCh38]
Chr5:149759131 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2461C>T (p.Gln821Ter) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV004795818] |
Chr5:150379025 [GRCh38]
Chr5:149758588 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.1474A>G (p.Met492Val) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV005104976]|not provided [RCV004772197] |
Chr5:150375149 [GRCh38]
Chr5:149754712 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1557del (p.Gly520fs) |
deletion |
TCOF1-related disorder [RCV004747576] |
Chr5:150375405 [GRCh38]
Chr5:149754968 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001371623.1(TCOF1):c.3836del (p.Lys1279fs) |
deletion |
TCOF1-related disorder [RCV004726216] |
Chr5:150396332 [GRCh38]
Chr5:149775895 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001371623.1(TCOF1):c.4294G>A (p.Gly1432Arg) |
single nucleotide variant |
not provided [RCV004769135] |
Chr5:150396791 [GRCh38]
Chr5:149776354 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2657A>C (p.Gln886Pro) |
single nucleotide variant |
TCOF1-related disorder [RCV004728663]|not provided [RCV005059801] |
Chr5:150379407 [GRCh38]
Chr5:149758970 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3939G>A (p.Gln1313=) |
single nucleotide variant |
TCOF1-related disorder [RCV004746646] |
Chr5:150396436 [GRCh38]
Chr5:149775999 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1969G>A (p.Ala657Thr) |
single nucleotide variant |
TCOF1-related disorder [RCV004747853] |
Chr5:150376157 [GRCh38]
Chr5:149755720 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.2208dup (p.Gln737fs) |
duplication |
not provided [RCV004719435] |
Chr5:150376484..150376485 [GRCh38]
Chr5:149756047..149756048 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.4312A>G (p.Lys1438Glu) |
single nucleotide variant |
not provided [RCV004769085] |
Chr5:150396809 [GRCh38]
Chr5:149776372 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1712C>T (p.Ser571Phe) |
single nucleotide variant |
TCOF1-related disorder [RCV004730195] |
Chr5:150375728 [GRCh38]
Chr5:149755291 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2190_2193dup (p.Lys732fs) |
duplication |
Treacher Collins syndrome 1 [RCV005035393] |
Chr5:150376468..150376469 [GRCh38]
Chr5:149756031..149756032 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001371623.1(TCOF1):c.71T>A (p.Val24Glu) |
single nucleotide variant |
not provided [RCV005052761] |
Chr5:150357817 [GRCh38]
Chr5:149737380 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.38T>A (p.Leu13Gln) |
single nucleotide variant |
not provided [RCV004823771] |
Chr5:150357784 [GRCh38]
Chr5:149737347 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3173C>G (p.Pro1058Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004971511] |
Chr5:150390013 [GRCh38]
Chr5:149769576 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.989C>T (p.Thr330Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004971518] |
Chr5:150374292 [GRCh38]
Chr5:149753855 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2836C>T (p.Pro946Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004971519] |
Chr5:150379709 [GRCh38]
Chr5:149759272 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1465C>G (p.Leu489Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004971523] |
Chr5:150375140 [GRCh38]
Chr5:149754703 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2972A>G (p.Glu991Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004971524] |
Chr5:150388014 [GRCh38]
Chr5:149767577 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.4204G>A (p.Glu1402Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004971529] |
Chr5:150396701 [GRCh38]
Chr5:149776264 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1118C>A (p.Ala373Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV004971530] |
Chr5:150374651 [GRCh38]
Chr5:149754214 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1765_1766dup (p.Gln590fs) |
duplication |
Treacher Collins syndrome 1 [RCV004819935] |
Chr5:150375777..150375778 [GRCh38]
Chr5:149755340..149755341 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.1472C>G (p.Ala491Gly) |
single nucleotide variant |
not provided [RCV005003927] |
Chr5:150375147 [GRCh38]
Chr5:149754710 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.850C>G (p.Pro284Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004971510] |
Chr5:150372216 [GRCh38]
Chr5:149751779 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.772C>T (p.Pro258Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004971513] |
Chr5:150372138 [GRCh38]
Chr5:149751701 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2015C>T (p.Ala672Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004971515] |
Chr5:150376203 [GRCh38]
Chr5:149755766 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.4290A>C (p.Glu1430Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV004971521] |
Chr5:150396787 [GRCh38]
Chr5:149776350 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1988C>T (p.Thr663Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004971527] |
Chr5:150376176 [GRCh38]
Chr5:149755739 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.673G>A (p.Ala225Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004971531] |
Chr5:150372039 [GRCh38]
Chr5:149751602 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1823C>G (p.Ser608Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV004971517] |
Chr5:150375839 [GRCh38]
Chr5:149755402 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2374G>C (p.Ala792Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004971525] |
Chr5:150378938 [GRCh38]
Chr5:149758501 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3184G>T (p.Val1062Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004971526] |
Chr5:150391544 [GRCh38]
Chr5:149771107 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3582T>G (p.Asp1194Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004971528]|Treacher Collins syndrome 1 [RCV005107929] |
Chr5:150392769 [GRCh38]
Chr5:149772332 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3233A>G (p.Lys1078Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004971516] |
Chr5:150391593 [GRCh38]
Chr5:149771156 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.4042C>T (p.Arg1348Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV004971520] |
Chr5:150396539 [GRCh38]
Chr5:149776102 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1303dup (p.Gln435fs) |
duplication |
not provided [RCV004823306] |
Chr5:150374972..150374973 [GRCh38]
Chr5:149754535..149754536 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.1813A>G (p.Met605Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004971512] |
Chr5:150375829 [GRCh38]
Chr5:149755392 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2543C>G (p.Pro848Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004971514] |
Chr5:150379293 [GRCh38]
Chr5:149758856 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3663A>C (p.Lys1221Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV004971522] |
Chr5:150393431 [GRCh38]
Chr5:149772994 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3512C>T (p.Thr1171Met) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV005066079] |
Chr5:150392171 [GRCh38]
Chr5:149771734 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.4283C>T (p.Thr1428Met) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV005175896] |
Chr5:150396780 [GRCh38]
Chr5:149776343 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.878C>T (p.Ala293Val) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV005122246] |
Chr5:150374181 [GRCh38]
Chr5:149753744 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.197A>G (p.Glu66Gly) |
single nucleotide variant |
not provided [RCV005227429] |
Chr5:150364145 [GRCh38]
Chr5:149743708 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.304+1G>T |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV005196697] |
Chr5:150364253 [GRCh38]
Chr5:149743816 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001371623.1(TCOF1):c.2673del (p.Lys892fs) |
deletion |
Treacher Collins syndrome 1 [RCV005229739] |
Chr5:150379544 [GRCh38]
Chr5:149759107 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.1466T>A (p.Leu489Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV005291185]|Treacher Collins syndrome 1 [RCV005146002] |
Chr5:150375141 [GRCh38]
Chr5:149754704 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.4076C>T (p.Thr1359Ile) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV005175263] |
Chr5:150396573 [GRCh38]
Chr5:149776136 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1757A>T (p.Lys586Met) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV005174921] |
Chr5:150375773 [GRCh38]
Chr5:149755336 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2659G>A (p.Val887Met) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV005171837] |
Chr5:150379532 [GRCh38]
Chr5:149759095 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2T>C (p.Met1Thr) |
single nucleotide variant |
not provided [RCV005065247] |
Chr5:150357748 [GRCh38]
Chr5:149737311 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.3982A>G (p.Arg1328Gly) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV005195909] |
Chr5:150396479 [GRCh38]
Chr5:149776042 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2021C>G (p.Ser674Cys) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV005145932] |
Chr5:150376209 [GRCh38]
Chr5:149755772 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1929C>T (p.Ala643=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV005084710] |
Chr5:150376117 [GRCh38]
Chr5:149755680 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.4036C>A (p.Arg1346Ser) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV005158274] |
Chr5:150396533 [GRCh38]
Chr5:149776096 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.639+6T>A |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV005132421] |
Chr5:150369608 [GRCh38]
Chr5:149749171 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.3870G>A (p.Leu1290=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV005121007] |
Chr5:150396367 [GRCh38]
Chr5:149775930 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.3310G>A (p.Val1104Met) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV005148400] |
Chr5:150391969 [GRCh38]
Chr5:149771532 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1084-10G>A |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV005197765] |
Chr5:150374607 [GRCh38]
Chr5:149754170 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.2340+13A>T |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV005198758] |
Chr5:150376633 [GRCh38]
Chr5:149756196 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.2649G>A (p.Thr883=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV005181541] |
Chr5:150379399 [GRCh38]
Chr5:149758962 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.2153_2154del (p.Val718fs) |
microsatellite |
Treacher Collins syndrome 1 [RCV005140624] |
Chr5:150376431..150376432 [GRCh38]
Chr5:149755994..149755995 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.3528C>A (p.Thr1176=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV005189311] |
Chr5:150392715 [GRCh38]
Chr5:149772278 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.3943T>A (p.Ser1315Thr) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV005192201] |
Chr5:150396440 [GRCh38]
Chr5:149776003 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1748G>C (p.Ser583Thr) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV005185190] |
Chr5:150375764 [GRCh38]
Chr5:149755327 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1328C>T (p.Ala443Val) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV005138254] |
Chr5:150375003 [GRCh38]
Chr5:149754566 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2601_2621del (p.Asp867_Glu873del) |
deletion |
Treacher Collins syndrome 1 [RCV005150026] |
Chr5:150379343..150379363 [GRCh38]
Chr5:149758906..149758926 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1300_1389del (p.Pro434_Ala463del) |
deletion |
Treacher Collins syndrome 1 [RCV005204122] |
Chr5:150374972..150375061 [GRCh38]
Chr5:149754535..149754624 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2659-10C>G |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV005160684] |
Chr5:150379522 [GRCh38]
Chr5:149759085 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1278G>T (p.Gln426His) |
single nucleotide variant |
not provided [RCV005236217] |
Chr5:150374811 [GRCh38]
Chr5:149754374 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2655T>A (p.Ala885=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV005190033] |
Chr5:150379405 [GRCh38]
Chr5:149758968 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.4151C>T (p.Ser1384Phe) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV005108378] |
Chr5:150396648 [GRCh38]
Chr5:149776211 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2616G>A (p.Glu872=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV005143490] |
Chr5:150379366 [GRCh38]
Chr5:149758929 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.4346-13T>C |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV005138914] |
Chr5:150398341 [GRCh38]
Chr5:149777904 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.2813A>T (p.Glu938Val) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV005185880] |
Chr5:150379686 [GRCh38]
Chr5:149759249 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1765C>T (p.Pro589Ser) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV005143966] |
Chr5:150375781 [GRCh38]
Chr5:149755344 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3192GAA[1] (p.Lys1065del) |
microsatellite |
Treacher Collins syndrome 1 [RCV005144327] |
Chr5:150391550..150391552 [GRCh38]
Chr5:149771113..149771115 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2341-16C>T |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV005144418] |
Chr5:150378889 [GRCh38]
Chr5:149758452 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1389C>T (p.Ala463=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV005144223] |
Chr5:150375064 [GRCh38]
Chr5:149754627 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.624T>G (p.Asp208Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV005283182] |
Chr5:150369587 [GRCh38]
Chr5:149749150 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2175A>G (p.Lys725=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV005134581] |
Chr5:150376455 [GRCh38]
Chr5:149756018 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1230G>A (p.Ser410=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV005206792] |
Chr5:150374763 [GRCh38]
Chr5:149754326 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.2924C>T (p.Pro975Leu) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV005136706] |
Chr5:150387966 [GRCh38]
Chr5:149767529 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1938G>A (p.Lys646=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV005163786] |
Chr5:150376126 [GRCh38]
Chr5:149755689 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.2775G>A (p.Gln925=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV005108611] |
Chr5:150379648 [GRCh38]
Chr5:149759211 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.2731G>C (p.Ala911Pro) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV005161107] |
Chr5:150379604 [GRCh38]
Chr5:149759167 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1015_1016insG (p.Ser339fs) |
insertion |
Treacher Collins syndrome 1 [RCV005119640] |
Chr5:150374318..150374319 [GRCh38]
Chr5:149753881..149753882 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.2134G>A (p.Val712Met) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV005192338] |
Chr5:150376322 [GRCh38]
Chr5:149755885 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1833C>T (p.Ser611=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV005162307] |
Chr5:150375849 [GRCh38]
Chr5:149755412 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.3617G>A (p.Gly1206Asp) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV005070279] |
Chr5:150393385 [GRCh38]
Chr5:149772948 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.4030G>A (p.Glu1344Lys) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV005127021] |
Chr5:150396527 [GRCh38]
Chr5:149776090 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3743C>G (p.Ala1248Gly) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV005176509] |
Chr5:150393511 [GRCh38]
Chr5:149773074 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2642C>T (p.Ala881Val) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV005184635] |
Chr5:150379392 [GRCh38]
Chr5:149758955 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3513G>A (p.Thr1171=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV005181381] |
Chr5:150392172 [GRCh38]
Chr5:149771735 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1386A>G (p.Ala462=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV005183897] |
Chr5:150375061 [GRCh38]
Chr5:149754624 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.810A>C (p.Ser270=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV005126362] |
Chr5:150372176 [GRCh38]
Chr5:149751739 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.3711C>T (p.Ala1237=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV005129896] |
Chr5:150393479 [GRCh38]
Chr5:149773042 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.639+14A>G |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV005179361] |
Chr5:150369616 [GRCh38]
Chr5:149749179 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1371G>A (p.Arg457=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV005111535] |
Chr5:150375046 [GRCh38]
Chr5:149754609 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.2643G>A (p.Ala881=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV005111716] |
Chr5:150379393 [GRCh38]
Chr5:149758956 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.2699T>C (p.Leu900Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV005291791] |
Chr5:150379572 [GRCh38]
Chr5:149759135 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.4321A>G (p.Lys1441Glu) |
single nucleotide variant |
not provided [RCV005256207] |
Chr5:150396818 [GRCh38]
Chr5:149776381 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1102dup (p.Thr368fs) |
duplication |
Treacher Collins syndrome 1 [RCV005255271] |
Chr5:150374630..150374631 [GRCh38]
Chr5:149754193..149754194 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.298A>C (p.Lys100Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV005291795] |
Chr5:150364246 [GRCh38]
Chr5:149743809 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3518-51C>G |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV005254180] |
Chr5:150392654 [GRCh38]
Chr5:149772217 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.748C>T (p.Pro250Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV005291796] |
Chr5:150372114 [GRCh38]
Chr5:149751677 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2065C>A (p.Pro689Thr) |
single nucleotide variant |
not provided [RCV005256358] |
Chr5:150376253 [GRCh38]
Chr5:149755816 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3741G>C (p.Glu1247Asp) |
single nucleotide variant |
not provided [RCV005256148] |
Chr5:150393509 [GRCh38]
Chr5:149773072 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3773C>T (p.Ser1258Phe) |
single nucleotide variant |
Treacher Collins syndrome [RCV005356867] |
Chr5:150393541 [GRCh38]
Chr5:149773104 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2044G>A (p.Val682Met) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV005394024] |
Chr5:150376232 [GRCh38]
Chr5:149755795 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1675G>A (p.Glu559Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV005291794] |
Chr5:150375525 [GRCh38]
Chr5:149755088 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2084G>T (p.Ser695Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV005291792] |
Chr5:150376272 [GRCh38]
Chr5:149755835 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.4433A>G (p.Lys1478Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV005291790] |
Chr5:150398441 [GRCh38]
Chr5:149778004 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.672A>C (p.Lys224Asn) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV005394025] |
Chr5:150372038 [GRCh38]
Chr5:149751601 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1944C>T (p.Thr648=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV005252217] |
Chr5:150376132 [GRCh38]
Chr5:149755695 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.4426A>T (p.Lys1476Ter) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV005251506] |
Chr5:150398434 [GRCh38]
Chr5:149777997 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001371623.1(TCOF1):c.3569A>C (p.Glu1190Ala) |
single nucleotide variant |
not provided [RCV005423271] |
Chr5:150392756 [GRCh38]
Chr5:149772319 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1397_1485del (p.Val466fs) |
deletion |
Treacher Collins syndrome 1 [RCV005252201] |
Chr5:150375072..150375160 [GRCh38]
Chr5:149754635..149754723 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001371623.1(TCOF1):c.1488+9G>A |
single nucleotide variant |
not provided [RCV000885424] |
Chr5:150375172 [GRCh38]
Chr5:149754735 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.270G>A (p.Glu90=) |
single nucleotide variant |
TCOF1-related disorder [RCV003968126]|Treacher Collins syndrome 1 [RCV005092634] |
Chr5:150364218 [GRCh38]
Chr5:149743781 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.4444-19C>T |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV002152439] |
Chr5:150399003 [GRCh38]
Chr5:149778566 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1267G>A (p.Ala423Thr) |
single nucleotide variant |
not provided [RCV004787383] |
Chr5:150374800 [GRCh38]
Chr5:149754363 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.142del (p.Asp48fs) |
deletion |
Treacher Collins syndrome 1 [RCV003153154] |
Chr5:150361188 [GRCh38]
Chr5:149740751 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001371623.1(TCOF1):c.905C>G (p.Ala302Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002841336] |
Chr5:150374208 [GRCh38]
Chr5:149753771 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1653G>A (p.Glu551=) |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV003067784] |
Chr5:150375503 [GRCh38]
Chr5:149755066 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1019_1022del (p.Glu340fs) |
microsatellite |
Treacher Collins syndrome 1 [RCV003326683] |
Chr5:150374320..150374323 [GRCh38]
Chr5:149753883..149753886 [GRCh37]
Chr5:5q32 |
likely pathogenic |
| NM_001371623.1(TCOF1):c.3518-2A>G |
single nucleotide variant |
not specified [RCV003404965] |
Chr5:150392703 [GRCh38]
Chr5:149772266 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.610_625del (p.Ser204fs) |
deletion |
Treacher Collins syndrome 1 [RCV004526430] |
Chr5:150369573..150369588 [GRCh38]
Chr5:149749136..149749151 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.712G>A (p.Ala238Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004682107] |
Chr5:150372078 [GRCh38]
Chr5:149751641 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.870+1G>A |
single nucleotide variant |
Treacher Collins syndrome 1 [RCV004594737] |
Chr5:150372237 [GRCh38]
Chr5:149751800 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2737C>T (p.Pro913Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004675652] |
Chr5:150379610 [GRCh38]
Chr5:149759173 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.3622A>G (p.Met1208Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004675653] |
Chr5:150393390 [GRCh38]
Chr5:149772953 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.4214G>A (p.Gly1405Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004675654] |
Chr5:150396711 [GRCh38]
Chr5:149776274 [GRCh37]
Chr5:5q32 |
likely benign |
| NM_001371623.1(TCOF1):c.1534A>G (p.Met512Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004675655] |
Chr5:150375384 [GRCh38]
Chr5:149754947 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.4362A>C (p.Glu1454Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV004675656] |
Chr5:150398370 [GRCh38]
Chr5:149777933 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.2624C>G (p.Ser875Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV004675657] |
Chr5:150379374 [GRCh38]
Chr5:149758937 [GRCh37]
Chr5:5q32 |
pathogenic |
| NM_001371623.1(TCOF1):c.521A>T (p.Glu174Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004675658] |
Chr5:150368858 [GRCh38]
Chr5:149748421 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.4231T>C (p.Ser1411Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004675659] |
Chr5:150396728 [GRCh38]
Chr5:149776291 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1096G>C (p.Gly366Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004675660] |
Chr5:150374629 [GRCh38]
Chr5:149754192 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.1142C>T (p.Ser381Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV004675661] |
Chr5:150374675 [GRCh38]
Chr5:149754238 [GRCh37]
Chr5:5q32 |
uncertain significance |
| NM_001371623.1(TCOF1):c.4025G>A (p.Gly1342Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV004675662] |
Chr5:150396522 [GRCh38]
Chr5:149776085 [GRCh37]
Chr5:5q32 |
uncertain significance |
