Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001371623.1(TCOF1):c.985C>T (p.Gln329Ter)	SNV Germline	Chr5:150374288	Pathogenic	Treacher Collins syndrome 1	No Assertion Criteria Provided	CA252938	rs_119470016	1 SubmittersRCV000004166
NM_001371623.1(TCOF1):c.149A>G (p.Tyr50Cys)	SNV Germline	Chr5:150361196	Likely pathogenic	Treacher Collins syndrome 1 Condition: not provided	Criteria Provided Single Submitter	CA252943	rs_28941769	2 SubmittersRCV000004170 RCV003886358
NM_001371623.1(TCOF1):c.2962C>T (p.Arg988Ter)	SNV Germline	Chr5:150388004	Pathogenic	Treacher Collins syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA252946	rs_119470017	3 SubmittersRCV000004172 RCV006445457
NM_001371623.1(TCOF1):c.2656C>T (p.Gln886Ter)	SNV Germline	Chr5:150379406	Pathogenic	Condition: not provided Treacher Collins syndrome 1	Criteria Provided Single Submitter	CA236243	rs_786205575	1 SubmittersRCV000171388 RCV003987414
NM_001371623.1(TCOF1):c.2575C>G (p.Gln859Glu)	SNV Germline	Chr5:150379325	Conflicting classifications of pathogenicity	Treacher Collins syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA3511203	rs_201043592	3 SubmittersRCV000490303 RCV002225512
NM_001371623.1(TCOF1):c.1961C>T (p.Ala654Val)	SNV Germline	Chr5:150376149	Conflicting classifications of pathogenicity	Condition: not provided Treacher Collins syndrome 1	Criteria Provided Conflicting Classifications	CA3511063	rs_201843484	3 SubmittersRCV000224247 RCV002516222
NM_001371623.1(TCOF1):c.295G>A (p.Ala99Thr)	SNV Germline	Chr5:150364243	Conflicting classifications of pathogenicity	Treacher Collins syndrome 1 Condition: not provided Inborn genetic diseases TCOF1-related disorder	Criteria Provided Conflicting Classifications	CA3510511	rs_112332762	8 SubmittersRCV000864274 RCV001573709 RCV004668874 RCV003891888
NM_001371623.1(TCOF1):c.3493G>C (p.Gly1165Arg)	SNV Germline	Chr5:150392152	Conflicting classifications of pathogenicity	not specified Condition: not provided Treacher Collins syndrome 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3511503	rs_141095369	4 SubmittersRCV000252237 RCV000983903 RCV001494269 RCV004668875
NM_001371623.1(TCOF1):c.1278+1G>A	SNV Germline	Chr5:150374812	Pathogenic	Condition: not provided Treacher Collins syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA10602969	rs_886041506	2 SubmittersRCV000317388 RCV000821693
NM_001371623.1(TCOF1):c.3620A>G (p.Tyr1207Cys)	SNV Germline	Chr5:150393388	Conflicting classifications of pathogenicity	Condition: not provided Treacher Collins syndrome 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3511564	rs_146226591	5 SubmittersRCV000730229 RCV002061269 RCV004021991
NM_000359.3(TGM1):c.791G>A (p.Arg264Gln)	SNV Germline	Chr14:24260025	Pathogenic/Likely pathogenic	Autosomal recessive congenital ichthyosis 1 Condition: not provided Lamellar ichthyosis Treacher Collins syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA7131282	rs_781006633	5 SubmittersRCV000320209 RCV001046072 RCV003323509 RCV005863096
NM_001371623.1(TCOF1):c.50A>G (p.His17Arg)	SNV Germline	Chr5:150357796	Pathogenic/Likely pathogenic	Condition: not provided Treacher Collins syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16604898	rs_1057521108	2 SubmittersRCV000430961 RCV000809896
NM_001371623.1(TCOF1):c.1990C>T (p.Gln664Ter)	SNV Germline	Chr5:150376178	Pathogenic	Condition: not provided Treacher Collins syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA361752153	rs_896979080	2 SubmittersRCV000498474 RCV001387224
NM_001371623.1(TCOF1):c.1705G>A (p.Glu569Lys)	SNV Germline	Chr5:150375721	Likely pathogenic	Treacher Collins syndrome 1	No Assertion Criteria Provided	CA3510982	rs_764314276	1 SubmittersRCV000502683
NM_001371623.1(TCOF1):c.862C>T (p.Arg288Ter)	SNV Germline	Chr5:150372228	Pathogenic/Likely pathogenic	Condition: not provided Treacher Collins syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA361740201	rs_748805008	2 SubmittersRCV000519807 RCV000792512
NM_001371623.1(TCOF1):c.4388A>G (p.Lys1463Arg)	SNV Germline	Chr5:150398396	Conflicting classifications of pathogenicity	Treacher Collins syndrome 1 Microcephaly Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3511752	rs_200645401	4 SubmittersRCV000549966 RCV001252931 RCV001672874 RCV003278918
NM_001371623.1(TCOF1):c.1034A>G (p.Glu345Gly)	SNV Germline	Chr5:150374337	Conflicting classifications of pathogenicity	Condition: not provided Treacher Collins syndrome 1 TCOF1-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3510718	rs_150637771	5 SubmittersRCV000591700 RCV002065171 RCV003927933 RCV004965597
NM_001371623.1(TCOF1):c.2795C>G (p.Ser932Ter)	SNV Germline	Chr5:150379668	Pathogenic	Treacher Collins syndrome 1	Criteria Provided Single Submitter	CA361759472	rs_1554138811	1 SubmittersRCV000654877
NM_001371623.1(TCOF1):c.2727A>G (p.Lys909=)	SNV Germline	Chr5:150379600	Conflicting classifications of pathogenicity	Condition: not provided Treacher Collins syndrome 1	Criteria Provided Conflicting Classifications	CA3511251	rs_779040869	2 SubmittersRCV000731336 RCV006464121
NM_001371623.1(TCOF1):c.4418C>T (p.Pro1473Leu)	SNV Germline	Chr5:150398426	Conflicting classifications of pathogenicity	Condition: not provided Treacher Collins syndrome 1	Criteria Provided Conflicting Classifications	CA3511757	rs_148367422	3 SubmittersRCV000735060 RCV001078497
NM_001371623.1(TCOF1):c.378+1G>A	SNV Germline	Chr5:150367918	Likely pathogenic	Treacher Collins syndrome 1 TCOF1-related disorder	Criteria Provided Single Submitter	CA361734042	rs_1581064385	2 SubmittersRCV000792464 RCV004723183
NM_001371623.1(TCOF1):c.3352C>T (p.Gln1118Ter)	SNV Germline	Chr5:150392011	Pathogenic	Treacher Collins syndrome 1	Criteria Provided Single Submitter	CA361736467	rs_1581203344	1 SubmittersRCV000856680
NM_001371623.1(TCOF1):c.676T>C (p.Ser226Pro)	SNV Germline	Chr5:150372042	Conflicting classifications of pathogenicity	Condition: not provided Treacher Collins syndrome 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3510643	rs_201919311	3 SubmittersRCV000880542 RCV003530113 RCV002536821
NM_001371623.1(TCOF1):c.3241G>A (p.Ala1081Thr)	SNV Germline	Chr5:150391601	Conflicting classifications of pathogenicity	Condition: not provided Treacher Collins syndrome 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3511450	rs_112144548	3 SubmittersRCV000896238 RCV002065628 RCV002540145
NM_001371623.1(TCOF1):c.961G>A (p.Gly321Arg)	SNV Germline	Chr5:150374264	Conflicting classifications of pathogenicity	Condition: not provided Treacher Collins syndrome 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3510707	rs_146307766	3 SubmittersRCV000917278 RCV002542149 RCV002540921
NM_001371623.1(TCOF1):c.3053G>T (p.Arg1018Ile)	SNV Germline	Chr5:150389893	Conflicting classifications of pathogenicity	Treacher Collins syndrome 1 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3511402	rs_532465195	3 SubmittersRCV001469766 RCV003442132 RCV004029626
NM_001371623.1(TCOF1):c.866G>A (p.Ser289Asn)	SNV Germline	Chr5:150372232	Conflicting classifications of pathogenicity	Treacher Collins syndrome 1 Condition: not provided TCOF1-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3510673	rs_188279654	4 SubmittersRCV000981767 RCV001615090 RCV004746188 RCV004030057
NM_001371623.1(TCOF1):c.3784+1G>C	SNV Germline	Chr5:150393553	Pathogenic	Treacher Collins syndrome 1	Criteria Provided Single Submitter	CA361740038	rs_1767850450	1 SubmittersRCV001049095
NM_001371623.1(TCOF1):c.4141G>T (p.Glu1381Ter)	SNV Germline	Chr5:150396638	Pathogenic	Treacher Collins syndrome 1	Criteria Provided Single Submitter	CA361743048	rs_1768581035	1 SubmittersRCV001270293
NM_001371623.1(TCOF1):c.1204C>T (p.Gln402Ter)	SNV Unknown	Chr5:150374737	Pathogenic	Treacher Collins syndrome 1	Criteria Provided Single Submitter	CA361744409	rs_1763331046	1 SubmittersRCV001197777
NM_001371623.1(TCOF1):c.4070C>T (p.Ala1357Val)	SNV Germline	Chr5:150396567	Conflicting classifications of pathogenicity	Treacher Collins syndrome 1 Hearing impairment Condition: not provided	Criteria Provided Conflicting Classifications	CA3511657	rs_373129508	4 SubmittersRCV001197296 RCV001375216 RCV003425984
NM_001371623.1(TCOF1):c.520G>T (p.Glu174Ter)	SNV Germline	Chr5:150368857	Pathogenic	Treacher Collins syndrome 1	Criteria Provided Single Submitter	CA361735549	rs_1761930554	1 SubmittersRCV001219859
NM_001371623.1(TCOF1):c.25G>T (p.Glu9Ter)	SNV Germline	Chr5:150357771	Pathogenic	Treacher Collins syndrome 1	Criteria Provided Single Submitter	CA361725673	rs_1758946466	1 SubmittersRCV001208278
NM_001371623.1(TCOF1):c.89T>G (p.Val30Gly)	SNV Germline	Chr5:150357835	Likely pathogenic	Treacher Collins syndrome 1	Criteria Provided Single Submitter	CA361726216	rs_1758963105	1 SubmittersRCV001233899
NM_001371623.1(TCOF1):c.4429A>T (p.Lys1477Ter)	SNV Germline	Chr5:150398437	Pathogenic	Treacher Collins syndrome 1	Criteria Provided Single Submitter	CA361745864	rs_1769042136	1 SubmittersRCV001248111
NM_001371623.1(TCOF1):c.1130C>T (p.Pro377Leu)	SNV Germline	Chr5:150374663	Conflicting classifications of pathogenicity	Treacher Collins syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA3510770	rs_189476787	5 SubmittersRCV001255165 RCV001587294
NM_001371623.1(TCOF1):c.3046G>A (p.Gly1016Ser)	SNV Germline	Chr5:150388088	Likely pathogenic	Treacher Collins syndrome 1	No Assertion Criteria Provided	CA361764189	rs_1766647259	1 SubmittersRCV001261246
NM_001371623.1(TCOF1):c.2515G>A (p.Val839Ile)	SNV Germline	Chr5:150379265	Conflicting classifications of pathogenicity	Treacher Collins syndrome 1 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3511191	rs_140126499	3 SubmittersRCV001470540 RCV001578027 RCV002561309
NM_001371623.1(TCOF1):c.1502G>A (p.Gly501Glu)	SNV Germline	Chr5:150375352	Conflicting classifications of pathogenicity	Condition: not provided Treacher Collins syndrome 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3510898	rs_201581867	3 SubmittersRCV001527837 RCV002568861 RCV004039189
NM_001371623.1(TCOF1):c.4393G>C (p.Ala1465Pro)	SNV Germline	Chr5:150398401	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Treacher Collins syndrome 1	Criteria Provided Conflicting Classifications	CA3511755	rs_146405751	3 SubmittersRCV001541873 RCV003284372 RCV003530195
NM_001371623.1(TCOF1):c.1124C>T (p.Ser375Leu)	SNV Germline	Chr5:150374657	Conflicting classifications of pathogenicity	TCOF1-related disorder Treacher Collins syndrome 1 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA3510766	rs_756584594	7 SubmittersRCV003399384 RCV001866045 RCV004039408 RCV001573330
NM_001371623.1(TCOF1):c.326A>G (p.Asn109Ser)	SNV Germline	Chr5:150367865	Conflicting classifications of pathogenicity	Condition: not provided Treacher Collins syndrome 1	Criteria Provided Conflicting Classifications	CA3510529	rs_142477153	3 SubmittersRCV001591971 RCV003106242
NM_001371623.1(TCOF1):c.2672G>A (p.Gly891Glu)	SNV Germline	Chr5:150379545	Conflicting classifications of pathogenicity	Condition: not provided Treacher Collins syndrome 1	Criteria Provided Conflicting Classifications	CA3511239	rs_376431510	2 SubmittersRCV001592685 RCV003530202
NM_001371623.1(TCOF1):c.3335C>T (p.Pro1112Leu)	SNV Germline	Chr5:150391994	Conflicting classifications of pathogenicity	Condition: not provided Treacher Collins syndrome 1	Criteria Provided Conflicting Classifications	CA3511478	rs_140440910	2 SubmittersRCV001652536 RCV002539585
NM_001371623.1(TCOF1):c.3191A>G (p.Lys1064Arg)	SNV Germline	Chr5:150391551	Conflicting classifications of pathogenicity	Condition: not provided Treacher Collins syndrome 1 Inborn genetic diseases TCOF1-related disorder	Criteria Provided Conflicting Classifications	CA3511441	rs_149117118	4 SubmittersRCV001670839 RCV002538582 RCV002538583 RCV003956319
NM_001371623.1(TCOF1):c.3605C>T (p.Ser1202Phe)	SNV Germline	Chr5:150393373	Conflicting classifications of pathogenicity	Condition: not provided Treacher Collins syndrome 1 Inborn genetic diseases Cleft lip/palate	Criteria Provided Conflicting Classifications	CA3511562	rs_112227999	4 SubmittersRCV001770783 RCV001861102 RCV002540284 RCV005626476
NM_001371623.1(TCOF1):c.252C>T (p.Thr84=)	SNV Germline	Chr5:150364200	Conflicting classifications of pathogenicity	Condition: not provided Treacher Collins syndrome 1	Criteria Provided Conflicting Classifications	CA129124101	rs_772865214	2 SubmittersRCV001755071 RCV003645898
NM_001371623.1(TCOF1):c.2614G>A (p.Glu872Lys)	SNV Germline	Chr5:150379364	Conflicting classifications of pathogenicity	Condition: not provided Treacher Collins syndrome 1	Criteria Provided Conflicting Classifications	CA3511207	rs_746560886	2 SubmittersRCV001779605 RCV001885144
NM_001371623.1(TCOF1):c.1622G>A (p.Trp541Ter)	SNV Germline	Chr5:150375472	Pathogenic	Treacher Collins syndrome 1	Criteria Provided Single Submitter	CA361747577	rs_2150716827	1 SubmittersRCV001945521
NM_001371623.1(TCOF1):c.4345+2T>C	SNV Germline	Chr5:150396844	Pathogenic	Treacher Collins syndrome 1	Criteria Provided Single Submitter	CA361744346	rs_2151108410	1 SubmittersRCV001927382
NM_001371623.1(TCOF1):c.230G>A (p.Arg77His)	SNV Germline	Chr5:150364178	Conflicting classifications of pathogenicity	Treacher Collins syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA3510497	rs_145365677	3 SubmittersRCV001883497 RCV003322900
NM_001371623.1(TCOF1):c.163C>T (p.Gln55Ter)	SNV Germline	Chr5:150361210	Pathogenic	Treacher Collins syndrome 1	Criteria Provided Single Submitter	CA361728732	rs_2150399547	1 SubmittersRCV002007283
NM_001371623.1(TCOF1):c.2205G>C (p.Leu735Phe)	SNV Germline	Chr5:150376485	Conflicting classifications of pathogenicity	Treacher Collins syndrome 1 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA3511131	rs_200577796	3 SubmittersRCV002002503 RCV004044361 RCV005412341
NM_001371623.1(TCOF1):c.523G>T (p.Glu175Ter)	SNV Germline	Chr5:150368860	Pathogenic	Treacher Collins syndrome 1	Criteria Provided Single Submitter	CA361735580	rs_1195908562	1 SubmittersRCV001970207
NM_001371623.1(TCOF1):c.724C>T (p.Pro242Ser)	SNV Germline	Chr5:150372090	Conflicting classifications of pathogenicity	Treacher Collins syndrome 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3510654	rs_766981672	2 SubmittersRCV002163922 RCV004047044
NM_001371623.1(TCOF1):c.1780C>T (p.Pro594Ser)	SNV Germline	Chr5:150375796	Conflicting classifications of pathogenicity	Treacher Collins syndrome 1 Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA3510998	rs_769250780	3 SubmittersRCV002111789 RCV005493262 RCV005868639
NM_001371623.1(TCOF1):c.1322C>T (p.Ala441Val)	SNV Germline	Chr5:150374997	Conflicting classifications of pathogenicity	Treacher Collins syndrome 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3510837	rs_540402926	2 SubmittersRCV002127111 RCV003015339
NM_001371623.1(TCOF1):c.3047-1G>A	SNV Germline	Chr5:150389886	Pathogenic	Treacher Collins syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA361732515	rs_2151009927	2 SubmittersRCV002246768
NM_001371623.1(TCOF1):c.2257C>T (p.Gln753Ter)	SNV Germline	Chr5:150376537	Pathogenic	Treacher Collins syndrome 1	Criteria Provided Single Submitter	CA361755065	rs_1490116413	1 SubmittersRCV002250989
NM_001371623.1(TCOF1):c.3856C>T (p.Gln1286Ter)	SNV Germline	Chr5:150396353	Likely pathogenic	Treacher Collins syndrome 1	Criteria Provided Single Submitter	CA361741411	rs_2151099050	1 SubmittersRCV002251103
NM_001371623.1(TCOF1):c.2859+1G>A	SNV Germline	Chr5:150379733	Conflicting classifications of pathogenicity	Condition: not provided Treacher Collins syndrome 1	Criteria Provided Conflicting Classifications	CA361759816	rs_760036030	2 SubmittersRCV002276141 RCV005052855
NM_001371623.1(TCOF1):c.4243A>T (p.Lys1415Ter)	SNV Germline	Chr5:150396740	Likely pathogenic	Treacher Collins syndrome 1	Criteria Provided Single Submitter	CA361743634	rs_2534551107	1 SubmittersRCV002283801
NM_001371623.1(TCOF1):c.583C>T (p.Gln195Ter)	SNV Germline	Chr5:150369546	Likely pathogenic	Treacher Collins syndrome 1	Criteria Provided Single Submitter	CA361736360	rs_2533127084	1 SubmittersRCV002283999
NM_001371623.1(TCOF1):c.304+5G>C	SNV Germline	Chr5:150364257	Pathogenic	Treacher Collins syndrome 1	Criteria Provided Single Submitter	CA563572752	rs_1183902447	1 SubmittersRCV002471497
NM_001371623.1(TCOF1):c.3490C>T (p.Gln1164Ter)	SNV Germline	Chr5:150392149	Pathogenic	Treacher Collins syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA361737515	rs_2534305480	2 SubmittersRCV002471820
NM_001371623.1(TCOF1):c.946A>G (p.Thr316Ala)	SNV Germline	Chr5:150374249	Conflicting classifications of pathogenicity	Treacher Collins syndrome 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3510703	rs_752618401	2 SubmittersRCV003074565 RCV004673786
NM_001371623.1(TCOF1):c.3451G>A (p.Asp1151Asn)	SNV Germline	Chr5:150392110	Conflicting classifications of pathogenicity	Treacher Collins syndrome 1 Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3511502	rs_745852521	4 SubmittersRCV002785222 RCV003235742 RCV005288812
NM_001371623.1(TCOF1):c.2935C>T (p.Gln979Ter)	SNV Germline	Chr5:150387977	Pathogenic	Treacher Collins syndrome 1	Criteria Provided Single Submitter	CA361763581	rs_2534125699	1 SubmittersRCV002898715
NM_001371623.1(TCOF1):c.4154C>T (p.Thr1385Met)	SNV Germline	Chr5:150396651	Conflicting classifications of pathogenicity	Inborn genetic diseases Treacher Collins syndrome 1	Criteria Provided Conflicting Classifications	CA3511674	rs_746357519	2 SubmittersRCV002936643 RCV005099900
NM_001371623.1(TCOF1):c.1634C>G (p.Ser545Ter)	SNV Germline	Chr5:150375484	Pathogenic	Treacher Collins syndrome 1	Criteria Provided Single Submitter	CA361747720	rs_2533457151	1 SubmittersRCV003142496
NM_001371623.1(TCOF1):c.1298C>T (p.Ala433Val)	SNV Germline	Chr5:150374973	Conflicting classifications of pathogenicity	Inborn genetic diseases Treacher Collins syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA3510826	rs_375265976	3 SubmittersRCV003184785 RCV003530291 RCV005235700
NM_001371623.1(TCOF1):c.2798G>A (p.Gly933Glu)	SNV Germline	Chr5:150379671	Conflicting classifications of pathogenicity	Condition: not provided Treacher Collins syndrome 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3511270	rs_747005979	3 SubmittersRCV003221659 RCV003645949 RCV005752212
NM_001371623.1(TCOF1):c.1016C>G (p.Ser339Ter)	SNV Germline	Chr5:150374319	Pathogenic/Likely pathogenic	Condition: not provided Treacher Collins syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA361742811	rs_2533364391	2 SubmittersRCV003231955 RCV003988100
NM_001371623.1(TCOF1):c.158G>A (p.Trp53Ter)	SNV Germline	Chr5:150361205	Likely pathogenic	Treacher Collins syndrome 1	Criteria Provided Single Submitter	CA361728680	rs_2532678254	1 SubmittersRCV003327320
NM_001371623.1(TCOF1):c.3398T>G (p.Val1133Gly)	SNV Germline	Chr5:150392057	Conflicting classifications of pathogenicity	Inborn genetic diseases Treacher Collins syndrome 1	Criteria Provided Conflicting Classifications	CA129106039	rs_536509445	2 SubmittersRCV003370749 RCV006472493
NM_001371623.1(TCOF1):c.3183G>C (p.Gln1061His)	SNV Unknown	Chr5:150390023	Pathogenic	Treacher Collins syndrome 1	Criteria Provided Single Submitter	CA361733620	rs_2534215438	1 SubmittersRCV003405212
NM_001371623.1(TCOF1):c.1978C>T (p.Arg660Ter)	SNV Germline	Chr5:150376166	Pathogenic	Condition: not provided Treacher Collins syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA361752050	rs_2533510482	2 SubmittersRCV003442238 RCV006473173
NM_001371623.1(TCOF1):c.2249C>T (p.Thr750Ile)	SNV Germline	Chr5:150376529	Conflicting classifications of pathogenicity	Treacher Collins syndrome 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3511141	rs_746966614	2 SubmittersRCV003530763 RCV005752247
NM_001371623.1(TCOF1):c.1A>T (p.Met1Leu)	SNV Germline	Chr5:150357747	Pathogenic	Treacher Collins syndrome 1	Criteria Provided Single Submitter	CA361725458	rs_2532514925	1 SubmittersRCV003530928
NM_001371623.1(TCOF1):c.4029G>A (p.Trp1343Ter)	SNV Germline	Chr5:150396526	Pathogenic	Treacher Collins syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA361742226	rs_2534537041	2 SubmittersRCV003530929 RCV005602055
NM_001371623.1(TCOF1):c.2142+2T>C	SNV Germline	Chr5:150376332	Likely pathogenic	Treacher Collins syndrome 1	Criteria Provided Single Submitter	CA361753651	rs_2533521583	1 SubmittersRCV003531064
NM_001371623.1(TCOF1):c.1108C>G (p.Gln370Glu)	SNV Germline	Chr5:150374641	Conflicting classifications of pathogenicity	Treacher Collins syndrome 1 not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3510760	rs_367576572	3 SubmittersRCV003646133 RCV005435242 RCV004371602
NM_001371623.1(TCOF1):c.2389G>A (p.Ala797Thr)	SNV Germline	Chr5:150378953	Conflicting classifications of pathogenicity	Treacher Collins syndrome 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3511158	rs_757336927	2 SubmittersRCV003646216 RCV004673939
NM_001371623.1(TCOF1):c.2478+5G>T	SNV Germline	Chr5:150379047	Pathogenic	Treacher Collins syndrome 1	Criteria Provided Single Submitter	CA2739272737	rs_2533653403	1 SubmittersRCV003646514
NM_001371623.1(TCOF1):c.2809G>A (p.Glu937Lys)	SNV Germline	Chr5:150379682	Conflicting classifications of pathogenicity	Treacher Collins syndrome 1 not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA129140050	rs_372917861	3 SubmittersRCV003646649 RCV005435254 RCV006382094
NM_001371623.1(TCOF1):c.2689A>T (p.Arg897Ter)	SNV Germline	Chr5:150379562	Pathogenic	Treacher Collins syndrome 1	Criteria Provided Single Submitter	CA361759112	rs_2533691917	1 SubmittersRCV003646541
NM_001371623.1(TCOF1):c.4123G>T (p.Glu1375Ter)	SNV Germline	Chr5:150396620	Likely pathogenic	Treacher Collins syndrome 1	Criteria Provided Single Submitter	CA361742900	rs_1464183714	1 SubmittersRCV003989921
NM_001371623.1(TCOF1):c.2926G>A (p.Ala976Thr)	SNV Germline	Chr5:150387968	Conflicting classifications of pathogenicity	Inborn genetic diseases Treacher Collins syndrome 1	Criteria Provided Conflicting Classifications	CA3511341	rs_376523159	2 SubmittersRCV004466649 RCV006484107
NM_001371623.1(TCOF1):c.4331A>C (p.Lys1444Thr)	SNV Germline	Chr5:150396828	Conflicting classifications of pathogenicity	Inborn genetic diseases Ehlers-Danlos syndrome Treacher Collins syndrome 1	Criteria Provided Conflicting Classifications	CA3511712	rs_765273768	3 SubmittersRCV004466656 RCV005626886 RCV006631100
NM_001371623.1(TCOF1):c.304+2T>A	SNV Germline	Chr5:150364254	Pathogenic	Treacher Collins syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV004759647
NM_001371623.1(TCOF1):c.2461C>T (p.Gln821Ter)	SNV Germline	Chr5:150379025	Pathogenic	Treacher Collins syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV004795818
NM_001371623.1(TCOF1):c.1094C>A (p.Ser365Ter)	SNV Germline	Chr5:150374627	Likely pathogenic	Treacher Collins syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV005055424
NM_001371623.1(TCOF1):c.1748G>C (p.Ser583Thr)	SNV Germline	Chr5:150375764	Conflicting classifications of pathogenicity	Inborn genetic diseases Treacher Collins syndrome 1	Criteria Provided Conflicting Classifications			2 SubmittersRCV006387414 RCV005185190
NM_001371623.1(TCOF1):c.304+1G>T	SNV Germline	Chr5:150364253	Likely pathogenic	Treacher Collins syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV005196697
NM_001371623.1(TCOF1):c.4426A>T (p.Lys1476Ter)	SNV Germline	Chr5:150398434	Likely pathogenic	Treacher Collins syndrome 1	No Assertion Criteria Provided			1 SubmittersRCV005251506
NM_001371623.1(TCOF1):c.1697C>T (p.Pro566Leu)	SNV Germline	Chr5:150375547	Conflicting classifications of pathogenicity	Inborn genetic diseases Treacher Collins syndrome 1	Criteria Provided Conflicting Classifications			2 SubmittersRCV005508404 RCV006479979
NM_001371623.1(TCOF1):c.109-2A>G	SNV Germline	Chr5:150361154	Likely pathogenic	Treacher Collins syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV005631659
NM_001371623.1(TCOF1):c.3142C>T (p.Arg1048Trp)	SNV Germline	Chr5:150389982	Conflicting classifications of pathogenicity	Inborn genetic diseases Treacher Collins syndrome 1 not specified	Criteria Provided Conflicting Classifications			3 SubmittersRCV005750677 RCV006613682 RCV006445084
NM_001371623.1(TCOF1):c.304+1G>A	SNV Germline	Chr5:150364253	Pathogenic	Treacher Collins syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV006496454
NM_001371623.1(TCOF1):c.1604C>G (p.Ser535Ter)	SNV Germline	Chr5:150375454	Pathogenic	Treacher Collins syndrome 1	Criteria Provided Single Submitter			1 SubmittersRCV006520804

NM_001371623.1(TCOF1):c.985C>T (p.Gln329Ter)

SNV
Germline

Chr5:150374288

Pathogenic

Treacher Collins syndrome 1

No Assertion Criteria Provided

CA252938

rs_119470016

1 SubmittersRCV000004166

NM_001371623.1(TCOF1):c.149A>G (p.Tyr50Cys)

SNV
Germline

Chr5:150361196

Likely pathogenic

Treacher Collins syndrome 1
Condition: not provided

Criteria Provided
Single Submitter

CA252943

rs_28941769

2 SubmittersRCV000004170 RCV003886358

NM_001371623.1(TCOF1):c.2962C>T (p.Arg988Ter)

SNV
Germline

Chr5:150388004

Pathogenic

Treacher Collins syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA252946

rs_119470017

3 SubmittersRCV000004172 RCV006445457

NM_001371623.1(TCOF1):c.2656C>T (p.Gln886Ter)

SNV
Germline

Chr5:150379406

Pathogenic

Condition: not provided
Treacher Collins syndrome 1

Criteria Provided
Single Submitter

CA236243

rs_786205575

1 SubmittersRCV000171388 RCV003987414

NM_001371623.1(TCOF1):c.2575C>G (p.Gln859Glu)

SNV
Germline

Chr5:150379325

Conflicting classifications of pathogenicity

Treacher Collins syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3511203

rs_201043592

3 SubmittersRCV000490303 RCV002225512

NM_001371623.1(TCOF1):c.1961C>T (p.Ala654Val)

SNV
Germline

Chr5:150376149

Conflicting classifications of pathogenicity

Condition: not provided
Treacher Collins syndrome 1

Criteria Provided
Conflicting Classifications

CA3511063

rs_201843484

3 SubmittersRCV000224247 RCV002516222

NM_001371623.1(TCOF1):c.295G>A (p.Ala99Thr)

SNV
Germline

Chr5:150364243

Conflicting classifications of pathogenicity

Treacher Collins syndrome 1
Condition: not provided
Inborn genetic diseases
TCOF1-related disorder

Criteria Provided
Conflicting Classifications

CA3510511

rs_112332762

8 SubmittersRCV000864274 RCV001573709 RCV004668874 RCV003891888

NM_001371623.1(TCOF1):c.3493G>C (p.Gly1165Arg)

SNV
Germline

Chr5:150392152

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Treacher Collins syndrome 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3511503

rs_141095369

4 SubmittersRCV000252237 RCV000983903 RCV001494269 RCV004668875

NM_001371623.1(TCOF1):c.1278+1G>A

SNV
Germline

Chr5:150374812

Pathogenic

Condition: not provided
Treacher Collins syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA10602969

rs_886041506

2 SubmittersRCV000317388 RCV000821693

NM_001371623.1(TCOF1):c.3620A>G (p.Tyr1207Cys)

SNV
Germline

Chr5:150393388

Conflicting classifications of pathogenicity

Condition: not provided
Treacher Collins syndrome 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3511564

rs_146226591

5 SubmittersRCV000730229 RCV002061269 RCV004021991

NM_000359.3(TGM1):c.791G>A (p.Arg264Gln)

SNV
Germline

Chr14:24260025

Pathogenic/Likely pathogenic

Autosomal recessive congenital ichthyosis 1
Condition: not provided
Lamellar ichthyosis
Treacher Collins syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA7131282

rs_781006633

5 SubmittersRCV000320209 RCV001046072 RCV003323509 RCV005863096

NM_001371623.1(TCOF1):c.50A>G (p.His17Arg)

SNV
Germline

Chr5:150357796

Pathogenic/Likely pathogenic

Condition: not provided
Treacher Collins syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16604898

rs_1057521108

2 SubmittersRCV000430961 RCV000809896

NM_001371623.1(TCOF1):c.1990C>T (p.Gln664Ter)

SNV
Germline

Chr5:150376178

Pathogenic

Condition: not provided
Treacher Collins syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA361752153

rs_896979080

2 SubmittersRCV000498474 RCV001387224

NM_001371623.1(TCOF1):c.1705G>A (p.Glu569Lys)

SNV
Germline

Chr5:150375721

Likely pathogenic

Treacher Collins syndrome 1

No Assertion Criteria Provided

CA3510982

rs_764314276

1 SubmittersRCV000502683

NM_001371623.1(TCOF1):c.862C>T (p.Arg288Ter)

SNV
Germline

Chr5:150372228

Pathogenic/Likely pathogenic

Condition: not provided
Treacher Collins syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA361740201

rs_748805008

2 SubmittersRCV000519807 RCV000792512

NM_001371623.1(TCOF1):c.4388A>G (p.Lys1463Arg)

SNV
Germline

Chr5:150398396

Conflicting classifications of pathogenicity

Treacher Collins syndrome 1
Microcephaly
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3511752

rs_200645401

4 SubmittersRCV000549966 RCV001252931 RCV001672874 RCV003278918

NM_001371623.1(TCOF1):c.1034A>G (p.Glu345Gly)

SNV
Germline

Chr5:150374337

Conflicting classifications of pathogenicity

Condition: not provided
Treacher Collins syndrome 1
TCOF1-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3510718

rs_150637771

5 SubmittersRCV000591700 RCV002065171 RCV003927933 RCV004965597

NM_001371623.1(TCOF1):c.2795C>G (p.Ser932Ter)

SNV
Germline

Chr5:150379668

Pathogenic

Treacher Collins syndrome 1

Criteria Provided
Single Submitter

CA361759472

rs_1554138811

1 SubmittersRCV000654877

NM_001371623.1(TCOF1):c.2727A>G (p.Lys909=)

SNV
Germline

Chr5:150379600

Conflicting classifications of pathogenicity

Condition: not provided
Treacher Collins syndrome 1

Criteria Provided
Conflicting Classifications

CA3511251

rs_779040869

2 SubmittersRCV000731336 RCV006464121

NM_001371623.1(TCOF1):c.4418C>T (p.Pro1473Leu)

SNV
Germline

Chr5:150398426

Conflicting classifications of pathogenicity

Condition: not provided
Treacher Collins syndrome 1

Criteria Provided
Conflicting Classifications

CA3511757

rs_148367422

3 SubmittersRCV000735060 RCV001078497

NM_001371623.1(TCOF1):c.378+1G>A

SNV
Germline

Chr5:150367918

Likely pathogenic

Treacher Collins syndrome 1
TCOF1-related disorder

Criteria Provided
Single Submitter

CA361734042

rs_1581064385

2 SubmittersRCV000792464 RCV004723183

NM_001371623.1(TCOF1):c.3352C>T (p.Gln1118Ter)

SNV
Germline

Chr5:150392011

Pathogenic

Treacher Collins syndrome 1

Criteria Provided
Single Submitter

CA361736467

rs_1581203344

1 SubmittersRCV000856680

NM_001371623.1(TCOF1):c.676T>C (p.Ser226Pro)

SNV
Germline

Chr5:150372042

Conflicting classifications of pathogenicity

Condition: not provided
Treacher Collins syndrome 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3510643

rs_201919311

3 SubmittersRCV000880542 RCV003530113 RCV002536821

NM_001371623.1(TCOF1):c.3241G>A (p.Ala1081Thr)

SNV
Germline

Chr5:150391601

Conflicting classifications of pathogenicity

Condition: not provided
Treacher Collins syndrome 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3511450

rs_112144548

3 SubmittersRCV000896238 RCV002065628 RCV002540145

NM_001371623.1(TCOF1):c.961G>A (p.Gly321Arg)

SNV
Germline

Chr5:150374264

Conflicting classifications of pathogenicity

Condition: not provided
Treacher Collins syndrome 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3510707

rs_146307766

3 SubmittersRCV000917278 RCV002542149 RCV002540921

NM_001371623.1(TCOF1):c.3053G>T (p.Arg1018Ile)

SNV
Germline

Chr5:150389893

Conflicting classifications of pathogenicity

Treacher Collins syndrome 1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3511402

rs_532465195

3 SubmittersRCV001469766 RCV003442132 RCV004029626

NM_001371623.1(TCOF1):c.866G>A (p.Ser289Asn)

SNV
Germline

Chr5:150372232

Conflicting classifications of pathogenicity

Treacher Collins syndrome 1
Condition: not provided
TCOF1-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3510673

rs_188279654

4 SubmittersRCV000981767 RCV001615090 RCV004746188 RCV004030057

NM_001371623.1(TCOF1):c.3784+1G>C

SNV
Germline

Chr5:150393553

Pathogenic

Treacher Collins syndrome 1

Criteria Provided
Single Submitter

CA361740038

rs_1767850450

1 SubmittersRCV001049095

NM_001371623.1(TCOF1):c.4141G>T (p.Glu1381Ter)

SNV
Germline

Chr5:150396638

Pathogenic

Treacher Collins syndrome 1

Criteria Provided
Single Submitter

CA361743048

rs_1768581035

1 SubmittersRCV001270293

NM_001371623.1(TCOF1):c.1204C>T (p.Gln402Ter)

SNV
Unknown

Chr5:150374737

Pathogenic

Treacher Collins syndrome 1

Criteria Provided
Single Submitter

CA361744409

rs_1763331046

1 SubmittersRCV001197777

NM_001371623.1(TCOF1):c.4070C>T (p.Ala1357Val)

SNV
Germline

Chr5:150396567

Conflicting classifications of pathogenicity

Treacher Collins syndrome 1
Hearing impairment
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3511657

rs_373129508

4 SubmittersRCV001197296 RCV001375216 RCV003425984

NM_001371623.1(TCOF1):c.520G>T (p.Glu174Ter)

SNV
Germline

Chr5:150368857

Pathogenic

Treacher Collins syndrome 1

Criteria Provided
Single Submitter

CA361735549

rs_1761930554

1 SubmittersRCV001219859

NM_001371623.1(TCOF1):c.25G>T (p.Glu9Ter)

SNV
Germline

Chr5:150357771

Pathogenic

Treacher Collins syndrome 1

Criteria Provided
Single Submitter

CA361725673

rs_1758946466

1 SubmittersRCV001208278

NM_001371623.1(TCOF1):c.89T>G (p.Val30Gly)

SNV
Germline

Chr5:150357835

Likely pathogenic

Treacher Collins syndrome 1

Criteria Provided
Single Submitter

CA361726216

rs_1758963105

1 SubmittersRCV001233899

NM_001371623.1(TCOF1):c.4429A>T (p.Lys1477Ter)

SNV
Germline

Chr5:150398437

Pathogenic

Treacher Collins syndrome 1

Criteria Provided
Single Submitter

CA361745864

rs_1769042136

1 SubmittersRCV001248111

NM_001371623.1(TCOF1):c.1130C>T (p.Pro377Leu)

SNV
Germline

Chr5:150374663

Conflicting classifications of pathogenicity

Treacher Collins syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3510770

rs_189476787

5 SubmittersRCV001255165 RCV001587294

NM_001371623.1(TCOF1):c.3046G>A (p.Gly1016Ser)

SNV
Germline

Chr5:150388088

Likely pathogenic

Treacher Collins syndrome 1

No Assertion Criteria Provided

CA361764189

rs_1766647259

1 SubmittersRCV001261246

NM_001371623.1(TCOF1):c.2515G>A (p.Val839Ile)

SNV
Germline

Chr5:150379265

Conflicting classifications of pathogenicity

Treacher Collins syndrome 1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3511191

rs_140126499

3 SubmittersRCV001470540 RCV001578027 RCV002561309

NM_001371623.1(TCOF1):c.1502G>A (p.Gly501Glu)

SNV
Germline

Chr5:150375352

Conflicting classifications of pathogenicity

Condition: not provided
Treacher Collins syndrome 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3510898

rs_201581867

3 SubmittersRCV001527837 RCV002568861 RCV004039189

NM_001371623.1(TCOF1):c.4393G>C (p.Ala1465Pro)

SNV
Germline

Chr5:150398401

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Treacher Collins syndrome 1

Criteria Provided
Conflicting Classifications

CA3511755

rs_146405751

3 SubmittersRCV001541873 RCV003284372 RCV003530195

NM_001371623.1(TCOF1):c.1124C>T (p.Ser375Leu)

SNV
Germline

Chr5:150374657

Conflicting classifications of pathogenicity

TCOF1-related disorder
Treacher Collins syndrome 1
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3510766

rs_756584594

7 SubmittersRCV003399384 RCV001866045 RCV004039408 RCV001573330

NM_001371623.1(TCOF1):c.326A>G (p.Asn109Ser)

SNV
Germline

Chr5:150367865

Conflicting classifications of pathogenicity

Condition: not provided
Treacher Collins syndrome 1

Criteria Provided
Conflicting Classifications

CA3510529

rs_142477153

3 SubmittersRCV001591971 RCV003106242

NM_001371623.1(TCOF1):c.2672G>A (p.Gly891Glu)

SNV
Germline

Chr5:150379545

Conflicting classifications of pathogenicity

Condition: not provided
Treacher Collins syndrome 1

Criteria Provided
Conflicting Classifications

CA3511239

rs_376431510

2 SubmittersRCV001592685 RCV003530202

NM_001371623.1(TCOF1):c.3335C>T (p.Pro1112Leu)

SNV
Germline

Chr5:150391994

Conflicting classifications of pathogenicity

Condition: not provided
Treacher Collins syndrome 1

Criteria Provided
Conflicting Classifications

CA3511478

rs_140440910

2 SubmittersRCV001652536 RCV002539585

NM_001371623.1(TCOF1):c.3191A>G (p.Lys1064Arg)

SNV
Germline

Chr5:150391551

Conflicting classifications of pathogenicity

Condition: not provided
Treacher Collins syndrome 1
Inborn genetic diseases
TCOF1-related disorder

Criteria Provided
Conflicting Classifications

CA3511441

rs_149117118

4 SubmittersRCV001670839 RCV002538582 RCV002538583 RCV003956319

NM_001371623.1(TCOF1):c.3605C>T (p.Ser1202Phe)

SNV
Germline

Chr5:150393373

Conflicting classifications of pathogenicity

Condition: not provided
Treacher Collins syndrome 1
Inborn genetic diseases
Cleft lip/palate

Criteria Provided
Conflicting Classifications

CA3511562

rs_112227999

4 SubmittersRCV001770783 RCV001861102 RCV002540284 RCV005626476

NM_001371623.1(TCOF1):c.252C>T (p.Thr84=)

SNV
Germline

Chr5:150364200

Conflicting classifications of pathogenicity

Condition: not provided
Treacher Collins syndrome 1

Criteria Provided
Conflicting Classifications

CA129124101

rs_772865214

2 SubmittersRCV001755071 RCV003645898

NM_001371623.1(TCOF1):c.2614G>A (p.Glu872Lys)

SNV
Germline

Chr5:150379364

Conflicting classifications of pathogenicity

Condition: not provided
Treacher Collins syndrome 1

Criteria Provided
Conflicting Classifications

CA3511207

rs_746560886

2 SubmittersRCV001779605 RCV001885144

NM_001371623.1(TCOF1):c.1622G>A (p.Trp541Ter)

SNV
Germline

Chr5:150375472

Pathogenic

Treacher Collins syndrome 1

Criteria Provided
Single Submitter

CA361747577

rs_2150716827

1 SubmittersRCV001945521

NM_001371623.1(TCOF1):c.4345+2T>C

SNV
Germline

Chr5:150396844

Pathogenic

Treacher Collins syndrome 1

Criteria Provided
Single Submitter

CA361744346

rs_2151108410

1 SubmittersRCV001927382

NM_001371623.1(TCOF1):c.230G>A (p.Arg77His)

SNV
Germline

Chr5:150364178

Conflicting classifications of pathogenicity

Treacher Collins syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3510497

rs_145365677

3 SubmittersRCV001883497 RCV003322900

NM_001371623.1(TCOF1):c.163C>T (p.Gln55Ter)

SNV
Germline

Chr5:150361210

Pathogenic

Treacher Collins syndrome 1

Criteria Provided
Single Submitter

CA361728732

rs_2150399547

1 SubmittersRCV002007283

NM_001371623.1(TCOF1):c.2205G>C (p.Leu735Phe)

SNV
Germline

Chr5:150376485

Conflicting classifications of pathogenicity

Treacher Collins syndrome 1
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3511131

rs_200577796

3 SubmittersRCV002002503 RCV004044361 RCV005412341

NM_001371623.1(TCOF1):c.523G>T (p.Glu175Ter)

SNV
Germline

Chr5:150368860

Pathogenic

Treacher Collins syndrome 1

Criteria Provided
Single Submitter

CA361735580

rs_1195908562

1 SubmittersRCV001970207

NM_001371623.1(TCOF1):c.724C>T (p.Pro242Ser)

SNV
Germline

Chr5:150372090

Conflicting classifications of pathogenicity

Treacher Collins syndrome 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3510654

rs_766981672

2 SubmittersRCV002163922 RCV004047044

NM_001371623.1(TCOF1):c.1780C>T (p.Pro594Ser)

SNV
Germline

Chr5:150375796

Conflicting classifications of pathogenicity

Treacher Collins syndrome 1
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3510998

rs_769250780

3 SubmittersRCV002111789 RCV005493262 RCV005868639

NM_001371623.1(TCOF1):c.1322C>T (p.Ala441Val)

SNV
Germline

Chr5:150374997

Conflicting classifications of pathogenicity

Treacher Collins syndrome 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3510837

rs_540402926

2 SubmittersRCV002127111 RCV003015339

NM_001371623.1(TCOF1):c.3047-1G>A

SNV
Germline

Chr5:150389886

Pathogenic

Treacher Collins syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA361732515

rs_2151009927

2 SubmittersRCV002246768

NM_001371623.1(TCOF1):c.2257C>T (p.Gln753Ter)

SNV
Germline

Chr5:150376537

Pathogenic

Treacher Collins syndrome 1

Criteria Provided
Single Submitter

CA361755065

rs_1490116413

1 SubmittersRCV002250989

NM_001371623.1(TCOF1):c.3856C>T (p.Gln1286Ter)

SNV
Germline

Chr5:150396353

Likely pathogenic

Treacher Collins syndrome 1

Criteria Provided
Single Submitter

CA361741411

rs_2151099050

1 SubmittersRCV002251103

NM_001371623.1(TCOF1):c.2859+1G>A

SNV
Germline

Chr5:150379733

Conflicting classifications of pathogenicity

Condition: not provided
Treacher Collins syndrome 1

Criteria Provided
Conflicting Classifications

CA361759816

rs_760036030

2 SubmittersRCV002276141 RCV005052855

NM_001371623.1(TCOF1):c.4243A>T (p.Lys1415Ter)

SNV
Germline

Chr5:150396740

Likely pathogenic

Treacher Collins syndrome 1

Criteria Provided
Single Submitter

CA361743634

rs_2534551107

1 SubmittersRCV002283801

NM_001371623.1(TCOF1):c.583C>T (p.Gln195Ter)

SNV
Germline

Chr5:150369546

Likely pathogenic

Treacher Collins syndrome 1

Criteria Provided
Single Submitter

CA361736360

rs_2533127084

1 SubmittersRCV002283999

NM_001371623.1(TCOF1):c.304+5G>C

SNV
Germline

Chr5:150364257

Pathogenic

Treacher Collins syndrome 1

Criteria Provided
Single Submitter

CA563572752

rs_1183902447

1 SubmittersRCV002471497

NM_001371623.1(TCOF1):c.3490C>T (p.Gln1164Ter)

SNV
Germline

Chr5:150392149

Pathogenic

Treacher Collins syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA361737515

rs_2534305480

2 SubmittersRCV002471820

NM_001371623.1(TCOF1):c.946A>G (p.Thr316Ala)

SNV
Germline

Chr5:150374249

Conflicting classifications of pathogenicity

Treacher Collins syndrome 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3510703

rs_752618401

2 SubmittersRCV003074565 RCV004673786

NM_001371623.1(TCOF1):c.3451G>A (p.Asp1151Asn)

SNV
Germline

Chr5:150392110

Conflicting classifications of pathogenicity

Treacher Collins syndrome 1
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3511502

rs_745852521

4 SubmittersRCV002785222 RCV003235742 RCV005288812

NM_001371623.1(TCOF1):c.2935C>T (p.Gln979Ter)

SNV
Germline

Chr5:150387977

Pathogenic

Treacher Collins syndrome 1

Criteria Provided
Single Submitter

CA361763581

rs_2534125699

1 SubmittersRCV002898715

NM_001371623.1(TCOF1):c.4154C>T (p.Thr1385Met)

SNV
Germline

Chr5:150396651

Conflicting classifications of pathogenicity

Inborn genetic diseases
Treacher Collins syndrome 1

Criteria Provided
Conflicting Classifications

CA3511674

rs_746357519

2 SubmittersRCV002936643 RCV005099900

NM_001371623.1(TCOF1):c.1634C>G (p.Ser545Ter)

SNV
Germline

Chr5:150375484

Pathogenic

Treacher Collins syndrome 1

Criteria Provided
Single Submitter

CA361747720

rs_2533457151

1 SubmittersRCV003142496

NM_001371623.1(TCOF1):c.1298C>T (p.Ala433Val)

SNV
Germline

Chr5:150374973

Conflicting classifications of pathogenicity

Inborn genetic diseases
Treacher Collins syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA3510826

rs_375265976

3 SubmittersRCV003184785 RCV003530291 RCV005235700

NM_001371623.1(TCOF1):c.2798G>A (p.Gly933Glu)

SNV
Germline

Chr5:150379671

Conflicting classifications of pathogenicity

Condition: not provided
Treacher Collins syndrome 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3511270

rs_747005979

3 SubmittersRCV003221659 RCV003645949 RCV005752212

NM_001371623.1(TCOF1):c.1016C>G (p.Ser339Ter)

SNV
Germline

Chr5:150374319

Pathogenic/Likely pathogenic

Condition: not provided
Treacher Collins syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA361742811

rs_2533364391

2 SubmittersRCV003231955 RCV003988100

NM_001371623.1(TCOF1):c.158G>A (p.Trp53Ter)

SNV
Germline

Chr5:150361205

Likely pathogenic

Treacher Collins syndrome 1

Criteria Provided
Single Submitter

CA361728680

rs_2532678254

1 SubmittersRCV003327320

NM_001371623.1(TCOF1):c.3398T>G (p.Val1133Gly)

SNV
Germline

Chr5:150392057

Conflicting classifications of pathogenicity

Inborn genetic diseases
Treacher Collins syndrome 1

Criteria Provided
Conflicting Classifications

CA129106039

rs_536509445

2 SubmittersRCV003370749 RCV006472493

NM_001371623.1(TCOF1):c.3183G>C (p.Gln1061His)

SNV
Unknown

Chr5:150390023

Pathogenic

Treacher Collins syndrome 1

Criteria Provided
Single Submitter

CA361733620

rs_2534215438

1 SubmittersRCV003405212

NM_001371623.1(TCOF1):c.1978C>T (p.Arg660Ter)

SNV
Germline

Chr5:150376166

Pathogenic

Condition: not provided
Treacher Collins syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA361752050

rs_2533510482

2 SubmittersRCV003442238 RCV006473173

NM_001371623.1(TCOF1):c.2249C>T (p.Thr750Ile)

SNV
Germline

Chr5:150376529

Conflicting classifications of pathogenicity

Treacher Collins syndrome 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3511141

rs_746966614

2 SubmittersRCV003530763 RCV005752247

NM_001371623.1(TCOF1):c.1A>T (p.Met1Leu)

SNV
Germline

Chr5:150357747

Pathogenic

Treacher Collins syndrome 1

Criteria Provided
Single Submitter

CA361725458

rs_2532514925

1 SubmittersRCV003530928

NM_001371623.1(TCOF1):c.4029G>A (p.Trp1343Ter)

SNV
Germline

Chr5:150396526

Pathogenic

Treacher Collins syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA361742226

rs_2534537041

2 SubmittersRCV003530929 RCV005602055

NM_001371623.1(TCOF1):c.2142+2T>C

SNV
Germline

Chr5:150376332

Likely pathogenic

Treacher Collins syndrome 1

Criteria Provided
Single Submitter

CA361753651

rs_2533521583

1 SubmittersRCV003531064

NM_001371623.1(TCOF1):c.1108C>G (p.Gln370Glu)

SNV
Germline

Chr5:150374641

Conflicting classifications of pathogenicity

Treacher Collins syndrome 1
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3510760

rs_367576572

3 SubmittersRCV003646133 RCV005435242 RCV004371602

NM_001371623.1(TCOF1):c.2389G>A (p.Ala797Thr)

SNV
Germline

Chr5:150378953

Conflicting classifications of pathogenicity

Treacher Collins syndrome 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA3511158

rs_757336927

2 SubmittersRCV003646216 RCV004673939

NM_001371623.1(TCOF1):c.2478+5G>T

SNV
Germline

Chr5:150379047

Pathogenic

Treacher Collins syndrome 1

Criteria Provided
Single Submitter

CA2739272737

rs_2533653403

1 SubmittersRCV003646514

NM_001371623.1(TCOF1):c.2809G>A (p.Glu937Lys)

SNV
Germline

Chr5:150379682

Conflicting classifications of pathogenicity

Treacher Collins syndrome 1
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA129140050

rs_372917861

3 SubmittersRCV003646649 RCV005435254 RCV006382094

NM_001371623.1(TCOF1):c.2689A>T (p.Arg897Ter)

SNV
Germline

Chr5:150379562

Pathogenic

Treacher Collins syndrome 1

Criteria Provided
Single Submitter

CA361759112

rs_2533691917

1 SubmittersRCV003646541

NM_001371623.1(TCOF1):c.4123G>T (p.Glu1375Ter)

SNV
Germline

Chr5:150396620

Likely pathogenic

Treacher Collins syndrome 1

Criteria Provided
Single Submitter

CA361742900

rs_1464183714

1 SubmittersRCV003989921

NM_001371623.1(TCOF1):c.2926G>A (p.Ala976Thr)

SNV
Germline

Chr5:150387968

Conflicting classifications of pathogenicity

Inborn genetic diseases
Treacher Collins syndrome 1

Criteria Provided
Conflicting Classifications

CA3511341

rs_376523159

2 SubmittersRCV004466649 RCV006484107

NM_001371623.1(TCOF1):c.4331A>C (p.Lys1444Thr)

SNV
Germline

Chr5:150396828

Conflicting classifications of pathogenicity

Inborn genetic diseases
Ehlers-Danlos syndrome
Treacher Collins syndrome 1

Criteria Provided
Conflicting Classifications

CA3511712

rs_765273768

3 SubmittersRCV004466656 RCV005626886 RCV006631100

NM_001371623.1(TCOF1):c.304+2T>A

SNV
Germline

Chr5:150364254

Pathogenic

Treacher Collins syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV004759647

NM_001371623.1(TCOF1):c.2461C>T (p.Gln821Ter)

SNV
Germline

Chr5:150379025

Pathogenic

Treacher Collins syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV004795818

NM_001371623.1(TCOF1):c.1094C>A (p.Ser365Ter)

SNV
Germline

Chr5:150374627

Likely pathogenic

Treacher Collins syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV005055424

NM_001371623.1(TCOF1):c.1748G>C (p.Ser583Thr)

SNV
Germline

Chr5:150375764

Conflicting classifications of pathogenicity

Inborn genetic diseases
Treacher Collins syndrome 1

Criteria Provided
Conflicting Classifications

2 SubmittersRCV006387414 RCV005185190

NM_001371623.1(TCOF1):c.304+1G>T

SNV
Germline

Chr5:150364253

Likely pathogenic

Treacher Collins syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV005196697

NM_001371623.1(TCOF1):c.4426A>T (p.Lys1476Ter)

SNV
Germline

Chr5:150398434

Likely pathogenic

Treacher Collins syndrome 1

No Assertion Criteria Provided

1 SubmittersRCV005251506

NM_001371623.1(TCOF1):c.1697C>T (p.Pro566Leu)

SNV
Germline

Chr5:150375547

Conflicting classifications of pathogenicity

Inborn genetic diseases
Treacher Collins syndrome 1

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005508404 RCV006479979

NM_001371623.1(TCOF1):c.109-2A>G

SNV
Germline

Chr5:150361154

Likely pathogenic

Treacher Collins syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV005631659

NM_001371623.1(TCOF1):c.3142C>T (p.Arg1048Trp)

SNV
Germline

Chr5:150389982

Conflicting classifications of pathogenicity

Inborn genetic diseases
Treacher Collins syndrome 1
not specified

Criteria Provided
Conflicting Classifications

3 SubmittersRCV005750677 RCV006613682 RCV006445084

NM_001371623.1(TCOF1):c.304+1G>A

SNV
Germline

Chr5:150364253

Pathogenic

Treacher Collins syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV006496454

NM_001371623.1(TCOF1):c.1604C>G (p.Ser535Ter)

SNV
Germline

Chr5:150375454

Pathogenic

Treacher Collins syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV006520804