Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000168.6(GLI3):c.1627G>T (p.Glu543Ter)	SNV Germline	Chr7:41978619	Pathogenic	Greig cephalopolysyndactyly syndrome	No Assertion Criteria Provided	CA256980	rs_121917711	1 SubmittersRCV000014833
NM_000168.6(GLI3):c.1873C>T (p.Arg625Trp)	SNV Germline	Chr7:41972567	Likely pathogenic	Greig cephalopolysyndactyly syndrome	Criteria Provided Single Submitter	CA256982	rs_121917712	2 SubmittersRCV000014835
NM_000168.6(GLI3):c.2800G>C (p.Ala934Pro)	SNV Germline	Chr7:41966273	Pathogenic	Greig cephalopolysyndactyly syndrome, severe	No Assertion Criteria Provided	CA130192	rs_28933372	1 SubmittersRCV000030896
NM_000168.6(GLI3):c.868C>T (p.Arg290Ter)	SNV Germline	Chr7:42040198	Pathogenic	Greig cephalopolysyndactyly syndrome Polysyndactyly 4 Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome	Criteria Provided Multiple Submitters No Conflicts	CA123498	rs_121917713	3 SubmittersRCV000014837 RCV000014838 RCV000554724
NM_000168.6(GLI3):c.2374C>T (p.Arg792Ter)	SNV Germline	Chr7:41967653	Pathogenic	Greig cephalopolysyndactyly syndrome Condition: not provided Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Polydactyly, postaxial, type A1	Criteria Provided Multiple Submitters No Conflicts	CA256983	rs_121917714	9 SubmittersRCV000014840 RCV000489344 RCV001047666 RCV001450016
NM_000168.6(GLI3):c.1486C>T (p.Gln496Ter)	SNV Germline	Chr7:42023479	Pathogenic	Greig cephalopolysyndactyly syndrome	No Assertion Criteria Provided	CA256985	rs_121917715	1 SubmittersRCV000014842
NM_000168.6(GLI3):c.2119C>T (p.Pro707Ser)	SNV Germline	Chr7:41967908	Conflicting classifications of pathogenicity	Greig cephalopolysyndactyly syndrome not specified Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Hirschsprung disease, susceptibility to, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA256987	rs_121917716	8 SubmittersRCV000014843 RCV000500441 RCV000542657 RCV000508658 RCV000782254
NM_000168.6(GLI3):c.3481C>T (p.Gln1161Ter)	SNV Germline	Chr7:41965592	Pathogenic	Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome	Criteria Provided Single Submitter	CA342945	rs_116840770	1 SubmittersRCV000814115
NM_000168.6(GLI3):c.1207G>A (p.Val403Ile)	SNV Germline	Chr7:42026234	Conflicting classifications of pathogenicity	not specified Greig cephalopolysyndactyly syndrome Polydactyly Pallister-Hall syndrome Inborn genetic diseases Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome	Criteria Provided Conflicting Classifications	CA207359	rs_201070431	4 SubmittersRCV000193696 RCV000268836 RCV000365900 RCV000326204 RCV002517940 RCV002517076
NM_000168.6(GLI3):c.241G>A (p.Glu81Lys)	SNV Germline	Chr7:42148352	Conflicting classifications of pathogenicity	Condition: not provided Greig cephalopolysyndactyly syndrome Polydactyly, postaxial, type A1 Hamartoma of hypothalamus Polysyndactyly 4 Pallister-Hall syndrome Polydactyly Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4231269	rs_376725882	5 SubmittersRCV000255549 RCV000764716 RCV001158783 RCV001158784 RCV001158785 RCV003765568 RCV004021025
NM_000168.6(GLI3):c.2200G>A (p.Asp734Asn)	SNV Germline	Chr7:41967827	Conflicting classifications of pathogenicity	Condition: not provided Polydactyly, postaxial, type A1 Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Polysyndactyly 4 Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4230663	rs_140479817	4 SubmittersRCV000361427 RCV002494821 RCV002518846 RCV003258718
NM_000168.6(GLI3):c.1346G>C (p.Arg449Pro)	SNV Germline	Chr7:42025274	Conflicting classifications of pathogenicity	Condition: not provided Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome	Criteria Provided Conflicting Classifications	CA10604355	rs_745809543	2 SubmittersRCV000271583 RCV003765599
NM_000168.6(GLI3):c.3935T>G (p.Met1312Arg)	SNV Germline	Chr7:41965138	Conflicting classifications of pathogenicity	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Condition: not provided Polydactyly Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome GLI3-related disorder	Criteria Provided Conflicting Classifications	CA4230224	rs_199875457	9 SubmittersRCV000267903 RCV000307954 RCV000354909 RCV000362619 RCV001083375 RCV004535293
NM_000168.6(GLI3):c.3829C>G (p.Gln1277Glu)	SNV Germline	Chr7:41965244	Conflicting classifications of pathogenicity	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Condition: not provided Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA4230250	rs_146582871	5 SubmittersRCV001085856 RCV000725297 RCV002518885 RCV000269527
NM_000168.6(GLI3):c.2826G>T (p.Pro942=)	SNV Germline	Chr7:41966247	Conflicting classifications of pathogenicity	Condition: not provided Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome	Criteria Provided Conflicting Classifications	CA4230519	rs_34245321	3 SubmittersRCV000396560 RCV001078832
NM_000168.6(GLI3):c.1485G>A (p.Glu495=)	SNV Germline	Chr7:42023480	Conflicting classifications of pathogenicity	Greig cephalopolysyndactyly syndrome Condition: not provided Pallister-Hall syndrome Polydactyly Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome	Criteria Provided Conflicting Classifications	CA4230834	rs_149248727	3 SubmittersRCV000283177 RCV000290847 RCV000341599 RCV000380054 RCV002521915
NM_000168.6(GLI3):c.3762T>C (p.Tyr1254=)	SNV Germline	Chr7:41965311	Conflicting classifications of pathogenicity	Pallister-Hall syndrome Condition: not provided Polydactyly Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome GLI3-related disorder	Criteria Provided Conflicting Classifications	CA4230273	rs_148043302	4 SubmittersRCV000293622 RCV000296340 RCV000333919 RCV000388438 RCV001486626 RCV004535322
NM_000168.6(GLI3):c.2245A>G (p.Ile749Val)	SNV Germline	Chr7:41967782	Conflicting classifications of pathogenicity	Condition: not provided Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Polydactyly GLI3-related disorder	Criteria Provided Conflicting Classifications	CA4230654	rs_140048578	6 SubmittersRCV000725555 RCV000814882 RCV001161436 RCV001161438 RCV001161437 RCV004535337
NM_000168.6(GLI3):c.223C>G (p.Pro75Ala)	SNV Germline	Chr7:42148370	Conflicting classifications of pathogenicity	Condition: not provided Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Polysyndactyly 4 Polydactyly, postaxial, type A1	Criteria Provided Conflicting Classifications	CA4231275	rs_369237977	3 SubmittersRCV000294796 RCV001366912 RCV002504000
NM_000168.6(GLI3):c.4560G>A (p.Ser1520=)	SNV Germline	Chr7:41964513	Conflicting classifications of pathogenicity	Condition: not provided Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome	Criteria Provided Conflicting Classifications	CA4230108	rs_79625212	2 SubmittersRCV000265139 RCV002519273
NM_000168.6(GLI3):c.3903A>G (p.Pro1301=)	SNV Germline	Chr7:41965170	Conflicting classifications of pathogenicity	Condition: not provided Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome	Criteria Provided Conflicting Classifications	CA4230228	rs_758771584	2 SubmittersRCV000350836 RCV001089316
NM_000168.6(GLI3):c.648C>T (p.Ile216=)	SNV Germline	Chr7:42048522	Conflicting classifications of pathogenicity	Condition: not provided Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome	Criteria Provided Conflicting Classifications	CA10606137	rs_886043938	2 SubmittersRCV000304319 RCV001088086
NM_000168.6(GLI3):c.1959G>A (p.Pro653=)	SNV Germline	Chr7:41972481	Conflicting classifications of pathogenicity	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Polydactyly Condition: not provided Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome	Criteria Provided Conflicting Classifications	CA4230722	rs_148226583	3 SubmittersRCV000295417 RCV000334254 RCV000386435 RCV000398266 RCV001083051
NM_000168.6(GLI3):c.*2276T>C	SNV Germline	Chr7:41962054	Conflicting classifications of pathogenicity	Polydactyly Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome	Criteria Provided Conflicting Classifications	CA10623953	rs_568393106	1 SubmittersRCV000275269 RCV000329234 RCV000365178
NM_000168.6(GLI3):c.*265A>C	SNV Germline	Chr7:41964065	Conflicting classifications of pathogenicity	Pallister-Hall syndrome Polydactyly Greig cephalopolysyndactyly syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10623980	rs_201493390	2 SubmittersRCV000299795 RCV000338396 RCV000392631 RCV001672695
NM_000168.6(GLI3):c.1462G>A (p.Ala488Thr)	SNV Germline	Chr7:42023503	Conflicting classifications of pathogenicity	Polydactyly Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA4230840	rs_756581886	4 SubmittersRCV000297459 RCV000340635 RCV000399556 RCV001204137 RCV001753837
NM_000168.6(GLI3):c.748C>T (p.Pro250Ser)	SNV Germline	Chr7:42045462	Conflicting classifications of pathogenicity	Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Polydactyly Condition: not provided Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome	Criteria Provided Conflicting Classifications	CA4231077	rs_202039538	3 SubmittersRCV000295892 RCV000329883 RCV000386462 RCV001770283 RCV003105883
NM_000168.6(GLI3):c.*185G>A	SNV Germline	Chr7:41964145	Conflicting classifications of pathogenicity	Pallister-Hall syndrome Polydactyly Greig cephalopolysyndactyly syndrome	Criteria Provided Conflicting Classifications	CA10626091	rs_531678760	1 SubmittersRCV000279710 RCV000333142 RCV000371464
NM_000168.6(GLI3):c.*3309C>A	SNV Germline	Chr7:41961021	Conflicting classifications of pathogenicity	Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Polydactyly	Criteria Provided Conflicting Classifications	CA10629176	rs_553151369	1 SubmittersRCV000306970 RCV000365037 RCV000404520
NM_000168.6(GLI3):c.*2666G>A	SNV Germline	Chr7:41961664	Conflicting classifications of pathogenicity	Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Polydactyly Condition: not provided	Criteria Provided Conflicting Classifications	CA10629187	rs_117987369	2 SubmittersRCV000260011 RCV000301159 RCV000355919 RCV003430937
NM_000168.6(GLI3):c.*2620C>G	SNV Germline	Chr7:41961710	Conflicting classifications of pathogenicity	Polydactyly Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome	Criteria Provided Conflicting Classifications	CA10629189	rs_56158069	1 SubmittersRCV000265507 RCV000320672 RCV000379806
NM_000168.6(GLI3):c.1845T>C (p.Thr615=)	SNV Germline	Chr7:41972595	Conflicting classifications of pathogenicity	Greig cephalopolysyndactyly syndrome Polydactyly Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome	Criteria Provided Conflicting Classifications	CA4230743	rs_373687877	2 SubmittersRCV000288074 RCV000345408 RCV000390043 RCV002523596
NM_000168.6(GLI3):c.681G>A (p.Ala227=)	SNV Germline	Chr7:42045529	Conflicting classifications of pathogenicity	Polydactyly Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome	Criteria Provided Conflicting Classifications	CA4231085	rs_752998397	2 SubmittersRCV000290017 RCV000347284 RCV000398784 RCV003766068
NM_000168.6(GLI3):c.313C>T (p.Arg105Cys)	SNV Germline	Chr7:42148280	Conflicting classifications of pathogenicity	not specified Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome	Criteria Provided Conflicting Classifications	CA4231249	rs_555794809	2 SubmittersRCV000413583 RCV002523932
NM_000168.6(GLI3):c.2331C>T (p.His777=)	SNV Germline	Chr7:41967696	Conflicting classifications of pathogenicity	Condition: not provided Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome	Criteria Provided Conflicting Classifications	CA16605109	rs_1057524835	2 SubmittersRCV000434244 RCV002525527
NM_000168.6(GLI3):c.1969G>A (p.Gly657Ser)	SNV Germline	Chr7:41972471	Conflicting classifications of pathogenicity	Condition: not provided Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4230720	rs_377579354	3 SubmittersRCV000428276 RCV002056677 RCV002525514
NM_000168.6(GLI3):c.3098C>A (p.Pro1033Gln)	SNV Germline	Chr7:41965975	Conflicting classifications of pathogenicity	not specified Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4230455	rs_376956433	4 SubmittersRCV000500463 RCV002524191 RCV003343870
NM_000168.6(GLI3):c.2685C>G (p.Tyr895Ter)	SNV Germline	Chr7:41966388	Pathogenic	Greig cephalopolysyndactyly syndrome	Criteria Provided Single Submitter	CA367320563	rs_772948115	1 SubmittersRCV000503394
NM_000168.6(GLI3):c.1182A>G (p.Pro394=)	SNV Germline	Chr7:42026259	Conflicting classifications of pathogenicity	not specified Condition: not provided Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome	Criteria Provided Conflicting Classifications	CA4230939	rs_748606221	3 SubmittersRCV000499402 RCV000726840 RCV002524190
NM_000168.6(GLI3):c.3823G>A (p.Gly1275Arg)	SNV Germline	Chr7:41965250	Conflicting classifications of pathogenicity	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Polysyndactyly 4 Polydactyly, postaxial, type A1	Criteria Provided Conflicting Classifications	CA4230251	rs_756156901	2 SubmittersRCV000534571 RCV002497080
NM_000168.6(GLI3):c.2540G>A (p.Arg847Lys)	SNV Germline	Chr7:41966533	Conflicting classifications of pathogenicity	Condition: not provided Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Polysyndactyly 4 Greig cephalopolysyndactyly syndrome Polydactyly, postaxial, type A1	Criteria Provided Conflicting Classifications	CA4230573	rs_143406263	5 SubmittersRCV000598483 RCV002530989 RCV002491173
NM_000168.6(GLI3):c.1874G>A (p.Arg625Gln)	SNV Germline	Chr7:41972566	Pathogenic	Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA367322654	rs_1554306094	2 SubmittersRCV000634035 RCV001093382
NM_000168.6(GLI3):c.1028+1G>A	SNV Germline	Chr7:42040037	Pathogenic/Likely pathogenic	Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Polydactyly, postaxial, type A1	Criteria Provided Multiple Submitters No Conflicts	CA367328354	rs_1375768446	2 SubmittersRCV000634032 RCV001450021
NM_000168.6(GLI3):c.3324C>A (p.Tyr1108Ter)	SNV Germline	Chr7:41965749	Pathogenic	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome	Criteria Provided Single Submitter	CA367318510	rs_116840766	1 SubmittersRCV000634030
NM_000168.6(GLI3):c.3079C>T (p.Leu1027Phe)	SNV Germline	Chr7:41965994	Conflicting classifications of pathogenicity	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4230460	rs_746534141	3 SubmittersRCV000634031 RCV001584461 RCV004025441
NM_000168.6(GLI3):c.1474G>A (p.Asp492Asn)	SNV Germline	Chr7:42023491	Conflicting classifications of pathogenicity	Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA156892091	rs_886320788	2 SubmittersRCV000634033 RCV002528864
NM_000168.6(GLI3):c.4498G>T (p.Glu1500Ter)	SNV Germline	Chr7:41964575	Pathogenic	Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome	Criteria Provided Single Submitter		rs_1562656759	1 SubmittersRCV000686853
NM_000168.6(GLI3):c.3509C>G (p.Ala1170Gly)	SNV Germline	Chr7:41965564	Conflicting classifications of pathogenicity	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_143942705	2 SubmittersRCV000703711 RCV002536373
NM_000168.6(GLI3):c.1451G>A (p.Trp484Ter)	SNV Germline	Chr7:42023514	Pathogenic	Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome	Criteria Provided Single Submitter		rs_1562690271	1 SubmittersRCV000701080
NM_000168.6(GLI3):c.659G>A (p.Arg220His)	SNV Germline	Chr7:42048511	Conflicting classifications of pathogenicity	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome GLI3-related disorder	Criteria Provided Conflicting Classifications		rs_747805984	2 SubmittersRCV000692750 RCV004527745
NM_000168.6(GLI3):c.2174A>C (p.Asn725Thr)	SNV Germline	Chr7:41967853	Conflicting classifications of pathogenicity	Condition: not provided Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Polydactyly, postaxial, type A1 Greig cephalopolysyndactyly syndrome Polysyndactyly 4	Criteria Provided Conflicting Classifications		rs_749807129	3 SubmittersRCV000731752 RCV001044472 RCV002485899
NM_000168.6(GLI3):c.3756G>A (p.Pro1252=)	SNV Germline	Chr7:41965317	Conflicting classifications of pathogenicity	Condition: not provided Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome	Criteria Provided Conflicting Classifications		rs_758155716	2 SubmittersRCV000731850 RCV003768216
NM_000168.6(GLI3):c.1622C>T (p.Thr541Met)	SNV Germline	Chr7:41978624	Conflicting classifications of pathogenicity	8 conditions Inborn genetic diseases Condition: not provided Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome	Criteria Provided Conflicting Classifications		rs_1562667078	4 SubmittersRCV000855672 RCV001266774 RCV002067220 RCV001204667
NM_000168.6(GLI3):c.1346G>A (p.Arg449Gln)	SNV Germline	Chr7:42025274	Conflicting classifications of pathogenicity	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome	Criteria Provided Conflicting Classifications		rs_745809543	2 SubmittersRCV000804320
NM_000168.6(GLI3):c.1096C>T (p.Arg366Ter)	SNV Germline	Chr7:42026345	Pathogenic	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Condition: not provided	Criteria Provided Single Submitter		rs_1583805203	3 SubmittersRCV000822914 RCV001579780
NM_000168.6(GLI3):c.781G>A (p.Ala261Thr)	SNV Germline	Chr7:42045429	Conflicting classifications of pathogenicity	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Condition: not provided Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Polysyndactyly 4 Polydactyly, postaxial, type A1	Criteria Provided Conflicting Classifications		rs_139274834	3 SubmittersRCV000812607 RCV001759572 RCV002501108
NM_000168.6(GLI3):c.753T>G (p.Tyr251Ter)	SNV Germline	Chr7:42045457	Pathogenic	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome	Criteria Provided Single Submitter		rs_1583505882	1 SubmittersRCV000799089
NM_000168.6(GLI3):c.539G>A (p.Arg180Gln)	SNV Germline	Chr7:42048631	Conflicting classifications of pathogenicity	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Polysyndactyly 4 Polydactyly, postaxial, type A1 GLI3-related disorder	Criteria Provided Conflicting Classifications		rs_140772904	4 SubmittersRCV000797078 RCV001849447 RCV002495052 RCV004538093
NM_000168.6(GLI3):c.1028+3A>T	SNV Germline	Chr7:42040035	Conflicting classifications of pathogenicity	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome not specified GLI3-related disorder	Criteria Provided Conflicting Classifications		rs_368499795	3 SubmittersRCV001506252 RCV001819688 RCV004536004
NM_000168.6(GLI3):c.4076G>A (p.Gly1359Glu)	SNV Unknown	Chr7:41964997	Likely pathogenic	Greig cephalopolysyndactyly syndrome	Criteria Provided Single Submitter		rs_1583728402	1 SubmittersRCV000987864
NM_000168.6(GLI3):c.4508A>T (p.Gln1503Leu)	SNV Germline	Chr7:41964565	Conflicting classifications of pathogenicity	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Polysyndactyly 4 Pallister-Hall syndrome Polydactyly, postaxial, type A1	Criteria Provided Conflicting Classifications		rs_1359183911	2 SubmittersRCV001051098 RCV002497400
NM_000168.6(GLI3):c.3877C>G (p.Leu1293Val)	SNV Germline	Chr7:41965196	Conflicting classifications of pathogenicity	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Polysyndactyly 4 Pallister-Hall syndrome Polydactyly, postaxial, type A1	Criteria Provided Conflicting Classifications		rs_1476153727	2 SubmittersRCV001044473 RCV002481913
NM_000168.6(GLI3):c.2623C>T (p.Arg875Cys)	SNV Germline	Chr7:41966450	Conflicting classifications of pathogenicity	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Polysyndactyly 4 Polydactyly, postaxial, type A1	Criteria Provided Conflicting Classifications		rs_755227076	2 SubmittersRCV001044661 RCV002481915
NM_000168.6(GLI3):c.91G>T (p.Glu31Ter)	SNV Germline	Chr7:42223163	Pathogenic	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome	Criteria Provided Single Submitter		rs_1788520333	1 SubmittersRCV001071422
NM_000168.6(GLI3):c.1497+1G>A	SNV Germline	Chr7:42023467	Pathogenic	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1399654830	4 SubmittersRCV001041488 RCV001093384
NM_000168.6(GLI3):c.473+5G>A	SNV Germline	Chr7:42076747	Conflicting classifications of pathogenicity	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Polysyndactyly 4	Criteria Provided Conflicting Classifications		rs_1784885465	2 SubmittersRCV001052560 RCV001726427
NM_000168.6(GLI3):c.*2517G>A	SNV Germline	Chr7:41961813	Conflicting classifications of pathogenicity	Polydactyly Greig cephalopolysyndactyly syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_568690074	2 SubmittersRCV001160437 RCV001160438 RCV003433060
NM_000168.6(GLI3):c.*248T>A	SNV Germline	Chr7:41964082	Conflicting classifications of pathogenicity	Polydactyly Greig cephalopolysyndactyly syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_61091998	2 SubmittersRCV001160839 RCV001160840 RCV001673021
NM_000168.6(GLI3):c.3622G>T (p.Gly1208Trp)	SNV Germline	Chr7:41965451	Conflicting classifications of pathogenicity	Pallister-Hall syndrome Polydactyly Greig cephalopolysyndactyly syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_369440387	2 SubmittersRCV001159798 RCV001159797 RCV001159799 RCV002557365
NM_000168.6(GLI3):c.2004G>A (p.Pro668=)	SNV Germline	Chr7:41972436	Conflicting classifications of pathogenicity	Greig cephalopolysyndactyly syndrome Polydactyly Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome	Criteria Provided Conflicting Classifications		rs_867192725	2 SubmittersRCV001162976 RCV001162977 RCV002067981
NM_000168.6(GLI3):c.776C>G (p.Ala259Gly)	SNV Germline	Chr7:42045434	Conflicting classifications of pathogenicity	Greig cephalopolysyndactyly syndrome Polydactyly Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome	Criteria Provided Conflicting Classifications		rs_565817241	4 SubmittersRCV001161775 RCV001161776 RCV003769777
NM_000168.6(GLI3):c.3591G>A (p.Met1197Ile)	SNV Germline	Chr7:41965482	Conflicting classifications of pathogenicity	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Polydactyly, postaxial, type A1 Polysyndactyly 4	Criteria Provided Conflicting Classifications		rs_1374541235	2 SubmittersRCV001216988 RCV002497740
NM_000168.6(GLI3):c.658C>T (p.Arg220Cys)	SNV Germline	Chr7:42048512	Conflicting classifications of pathogenicity	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Polysyndactyly 4 Polydactyly, postaxial, type A1	Criteria Provided Conflicting Classifications		rs_758039889	2 SubmittersRCV001242651 RCV002484334
NM_000168.6(GLI3):c.1862C>T (p.Pro621Leu)	SNV Germline	Chr7:41972578	Pathogenic	Greig cephalopolysyndactyly syndrome	No Assertion Criteria Provided		rs_1787394130	1 SubmittersRCV001255861
NM_000168.6(GLI3):c.3611C>G (p.Pro1204Arg)	SNV Germline	Chr7:41965462	Conflicting classifications of pathogenicity	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Polysyndactyly 4 Polydactyly, postaxial, type A1 Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_543636524	3 SubmittersRCV001344236 RCV002493764 RCV003263980
NM_000168.6(GLI3):c.827-2A>G	SNV Germline	Chr7:42040241	Likely pathogenic	Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome	Criteria Provided Single Submitter		rs_2128738764	1 SubmittersRCV001379344
NM_000168.6(GLI3):c.1999C>T (p.Arg667Ter)	SNV Germline	Chr7:41972441	Pathogenic	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts		rs_781422192	4 SubmittersRCV001450018 RCV002246386 RCV002265029 RCV003264039
NM_000168.6(GLI3):c.650C>G (p.Ser217Ter)	SNV Germline	Chr7:42048520	Pathogenic	Greig cephalopolysyndactyly syndrome Polydactyly, postaxial, type A1	Criteria Provided Single Submitter		rs_2128742651	1 SubmittersRCV001450023
NM_000168.6(GLI3):c.233C>T (p.Ser78Leu)	SNV Germline	Chr7:42148360	Conflicting classifications of pathogenicity	Hepatoblastoma Greig cephalopolysyndactyly syndrome Polydactyly, postaxial, type A1 Pallister-Hall syndrome Polysyndactyly 4 Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome	Criteria Provided Conflicting Classifications		rs_777937822	3 SubmittersRCV001843896 RCV002482387 RCV003120719
NM_000168.6(GLI3):c.245G>A (p.Arg82Lys)	SNV Germline	Chr7:42148348	Conflicting classifications of pathogenicity	Hepatoblastoma Condition: not provided Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome	Criteria Provided Conflicting Classifications		rs_754143860	3 SubmittersRCV001843897 RCV002291774 RCV002077329
NM_000168.6(GLI3):c.3762T>G (p.Tyr1254Ter)	SNV Germline	Chr7:41965311	Pathogenic	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome	Criteria Provided Single Submitter		rs_148043302	1 SubmittersRCV001924251
NM_000168.6(GLI3):c.4427A>T (p.Asn1476Ile)	SNV Germline	Chr7:41964646	Conflicting classifications of pathogenicity	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Polysyndactyly 4 Greig cephalopolysyndactyly syndrome Polydactyly, postaxial, type A1 Pallister-Hall syndrome GLI3-related disorder	Criteria Provided Conflicting Classifications		rs_138100963	3 SubmittersRCV001979971 RCV002479559 RCV004538670
NM_000168.6(GLI3):c.1865G>A (p.Ser622Asn)	SNV Germline	Chr7:41972575	Likely pathogenic	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome	Criteria Provided Single Submitter		rs_2128710024	1 SubmittersRCV001888445
NM_000168.6(GLI3):c.3557C>T (p.Pro1186Leu)	SNV Germline	Chr7:41965516	Conflicting classifications of pathogenicity	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Polysyndactyly 4 Greig cephalopolysyndactyly syndrome Polydactyly, postaxial, type A1 Pallister-Hall syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_541487979	3 SubmittersRCV002002336 RCV002484774 RCV003426264
NM_000168.6(GLI3):c.1159T>C (p.Phe387Leu)	SNV Germline	Chr7:42026282	Conflicting classifications of pathogenicity	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_370794111	2 SubmittersRCV001919722 RCV003247115
NM_000168.6(GLI3):c.4292C>T (p.Pro1431Leu)	SNV Germline	Chr7:41964781	Conflicting classifications of pathogenicity	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Polydactyly, postaxial, type A1 Polysyndactyly 4 Condition: not provided	Criteria Provided Conflicting Classifications		rs_144128064	3 SubmittersRCV001906603 RCV002478339 RCV002253991
NM_000168.6(GLI3):c.3899C>T (p.Ala1300Val)	SNV Germline	Chr7:41965174	Conflicting classifications of pathogenicity	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_751790458	2 SubmittersRCV001935901 RCV003264261
NM_000168.6(GLI3):c.2432-1G>A	SNV Germline	Chr7:41966642	Pathogenic	Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome	Criteria Provided Single Submitter		rs_2128706417	1 SubmittersRCV001935371
NM_000168.6(GLI3):c.4507C>T (p.Gln1503Ter)	SNV Germline	Chr7:41964566	Pathogenic	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome	Criteria Provided Single Submitter		rs_2128704828	1 SubmittersRCV001895418
NM_000168.6(GLI3):c.2308G>T (p.Ala770Ser)	SNV Germline	Chr7:41967719	Conflicting classifications of pathogenicity	Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome not specified	Criteria Provided Conflicting Classifications		rs_1355649064	2 SubmittersRCV002166102 RCV004526913
NM_000168.6(GLI3):c.434G>A (p.Arg145His)	SNV Germline	Chr7:42076791	Conflicting classifications of pathogenicity	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_768622457	2 SubmittersRCV002106153 RCV003053421
NM_000168.6(GLI3):c.613C>T (p.Arg205Cys)	SNV Germline	Chr7:42048557	Conflicting classifications of pathogenicity	Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_767832980	2 SubmittersRCV002199035 RCV003161677
NM_000168.6(GLI3):c.4180C>T (p.Arg1394Cys)	SNV Germline	Chr7:41964893	Conflicting classifications of pathogenicity	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_577664817	2 SubmittersRCV002115913 RCV003134387
NM_000168.6(GLI3):c.473+1G>A	SNV Germline	Chr7:42076751	Pathogenic	Greig cephalopolysyndactyly syndrome	Criteria Provided Single Submitter		rs_2128751733	1 SubmittersRCV002227906
NM_000168.6(GLI3):c.2659C>A (p.Gln887Lys)	SNV Germline	Chr7:41966414	Conflicting classifications of pathogenicity	Condition: not provided Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV002306142 RCV003775010
NM_000168.6(GLI3):c.2257A>G (p.Thr753Ala)	SNV Germline	Chr7:41967770	Conflicting classifications of pathogenicity	Condition: not provided Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV002469707 RCV002571433
NM_000168.6(GLI3):c.1459T>A (p.Cys487Ser)	SNV Germline	Chr7:42023506	Conflicting classifications of pathogenicity	Greig cephalopolysyndactyly syndrome Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV002471384 RCV003775510
NM_000168.6(GLI3):c.293C>T (p.Ala98Val)	SNV Germline	Chr7:42148300	Conflicting classifications of pathogenicity	Condition: not provided Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV002510144 RCV002574728
NM_000168.6(GLI3):c.2862G>T (p.Lys954Asn)	SNV Germline	Chr7:41966211	Conflicting classifications of pathogenicity	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV003071350 RCV003171048
NM_000168.6(GLI3):c.3092A>G (p.Asn1031Ser)	SNV Germline	Chr7:41965981	Conflicting classifications of pathogenicity	Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome GLI3-related disorder	Criteria Provided Conflicting Classifications			2 SubmittersRCV002634027 RCV004529223
NM_000168.6(GLI3):c.1463C>T (p.Ala488Val)	SNV Germline	Chr7:42023502	Conflicting classifications of pathogenicity	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome GLI3-related disorder	Criteria Provided Conflicting Classifications			2 SubmittersRCV003106724 RCV004538886
NM_000168.6(GLI3):c.4392C>A (p.Asp1464Glu)	SNV Germline	Chr7:41964681	Conflicting classifications of pathogenicity	Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome GLI3-related disorder	Criteria Provided Conflicting Classifications			2 SubmittersRCV002746393 RCV004534188
NM_000168.6(GLI3):c.2445C>A (p.Asn815Lys)	SNV Germline	Chr7:41966628	Conflicting classifications of pathogenicity	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV002805459 RCV004064733
NM_000168.6(GLI3):c.368-1G>C	SNV Germline	Chr7:42076858	Likely pathogenic	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002820371
NM_000168.6(GLI3):c.3147C>A (p.Tyr1049Ter)	SNV Germline	Chr7:41965926	Pathogenic	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002889144
NM_000168.6(GLI3):c.474-3C>T	SNV Germline	Chr7:42048699	Conflicting classifications of pathogenicity	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome GLI3-related disorder	Criteria Provided Conflicting Classifications			2 SubmittersRCV002899680 RCV004536432
NM_000168.6(GLI3):c.4354C>T (p.Gln1452Ter)	SNV Germline	Chr7:41964719	Pathogenic	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002938784
NM_000168.6(GLI3):c.2329C>T (p.His777Tyr)	SNV Germline	Chr7:41967698	Conflicting classifications of pathogenicity	Inborn genetic diseases Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Condition: not provided	Criteria Provided Conflicting Classifications			3 SubmittersRCV002904655 RCV002922114 RCV003992687
NM_000168.6(GLI3):c.367+1G>A	SNV Germline	Chr7:42148225	Likely pathogenic	Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002942550
NM_000168.6(GLI3):c.368-2A>C	SNV Germline	Chr7:42076859	Likely pathogenic	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003008916
NM_000168.6(GLI3):c.2501C>G (p.Ser834Cys)	SNV Germline	Chr7:41966572	Conflicting classifications of pathogenicity	Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome GLI3-related disorder	Criteria Provided Conflicting Classifications			2 SubmittersRCV002976094 RCV004536499
NM_000168.6(GLI3):c.2163C>T (p.Ser721=)	SNV Germline	Chr7:41967864	Conflicting classifications of pathogenicity	Condition: not provided Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV003129017 RCV003778684
NM_000168.6(GLI3):c.2957G>A (p.Gly986Asp)	SNV Germline	Chr7:41966116	Conflicting classifications of pathogenicity	Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV003783016 RCV004374383
NM_000168.6(GLI3):c.2961C>G (p.Tyr987Ter)	SNV Germline	Chr7:41966112	Pathogenic	Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003806113
NM_000168.6(GLI3):c.3442C>T (p.Gln1148Ter)	SNV Germline	Chr7:41965631	Pathogenic	Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003803344
NM_000168.6(GLI3):c.4081G>T (p.Glu1361Ter)	SNV Germline	Chr7:41964992	Pathogenic	Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003813149

NM_000168.6(GLI3):c.1627G>T (p.Glu543Ter)

SNV
Germline

Chr7:41978619

Pathogenic

Greig cephalopolysyndactyly syndrome

No Assertion Criteria Provided

CA256980

rs_121917711

1 SubmittersRCV000014833

NM_000168.6(GLI3):c.1873C>T (p.Arg625Trp)

SNV
Germline

Chr7:41972567

Likely pathogenic

Greig cephalopolysyndactyly syndrome

Criteria Provided
Single Submitter

CA256982

rs_121917712

2 SubmittersRCV000014835

NM_000168.6(GLI3):c.2800G>C (p.Ala934Pro)

SNV
Germline

Chr7:41966273

Pathogenic

Greig cephalopolysyndactyly syndrome, severe

No Assertion Criteria Provided

CA130192

rs_28933372

1 SubmittersRCV000030896

NM_000168.6(GLI3):c.868C>T (p.Arg290Ter)

SNV
Germline

Chr7:42040198

Pathogenic

Greig cephalopolysyndactyly syndrome
Polysyndactyly 4
Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA123498

rs_121917713

3 SubmittersRCV000014837 RCV000014838 RCV000554724

NM_000168.6(GLI3):c.2374C>T (p.Arg792Ter)

SNV
Germline

Chr7:41967653

Pathogenic

Greig cephalopolysyndactyly syndrome
Condition: not provided
Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome
Polydactyly, postaxial, type A1

Criteria Provided
Multiple Submitters
No Conflicts

CA256983

rs_121917714

9 SubmittersRCV000014840 RCV000489344 RCV001047666 RCV001450016

NM_000168.6(GLI3):c.1486C>T (p.Gln496Ter)

SNV
Germline

Chr7:42023479

Pathogenic

Greig cephalopolysyndactyly syndrome

No Assertion Criteria Provided

CA256985

rs_121917715

1 SubmittersRCV000014842

NM_000168.6(GLI3):c.2119C>T (p.Pro707Ser)

SNV
Germline

Chr7:41967908

Conflicting classifications of pathogenicity

Greig cephalopolysyndactyly syndrome
not specified
Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome
Hirschsprung disease, susceptibility to, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA256987

rs_121917716

8 SubmittersRCV000014843 RCV000500441 RCV000542657 RCV000508658 RCV000782254

NM_000168.6(GLI3):c.3481C>T (p.Gln1161Ter)

SNV
Germline

Chr7:41965592

Pathogenic

Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome

Criteria Provided
Single Submitter

CA342945

rs_116840770

1 SubmittersRCV000814115

NM_000168.6(GLI3):c.1207G>A (p.Val403Ile)

SNV
Germline

Chr7:42026234

Conflicting classifications of pathogenicity

not specified
Greig cephalopolysyndactyly syndrome
Polydactyly
Pallister-Hall syndrome
Inborn genetic diseases
Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome

Criteria Provided
Conflicting Classifications

CA207359

rs_201070431

4 SubmittersRCV000193696 RCV000268836 RCV000365900 RCV000326204 RCV002517940 RCV002517076

NM_000168.6(GLI3):c.241G>A (p.Glu81Lys)

SNV
Germline

Chr7:42148352

Conflicting classifications of pathogenicity

Condition: not provided
Greig cephalopolysyndactyly syndrome
Polydactyly, postaxial, type A1
Hamartoma of hypothalamus
Polysyndactyly 4
Pallister-Hall syndrome
Polydactyly
Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4231269

rs_376725882

5 SubmittersRCV000255549 RCV000764716 RCV001158783 RCV001158784 RCV001158785 RCV003765568 RCV004021025

NM_000168.6(GLI3):c.2200G>A (p.Asp734Asn)

SNV
Germline

Chr7:41967827

Conflicting classifications of pathogenicity

Condition: not provided
Polydactyly, postaxial, type A1
Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Polysyndactyly 4
Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4230663

rs_140479817

4 SubmittersRCV000361427 RCV002494821 RCV002518846 RCV003258718

NM_000168.6(GLI3):c.1346G>C (p.Arg449Pro)

SNV
Germline

Chr7:42025274

Conflicting classifications of pathogenicity

Condition: not provided
Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome

Criteria Provided
Conflicting Classifications

CA10604355

rs_745809543

2 SubmittersRCV000271583 RCV003765599

NM_000168.6(GLI3):c.3935T>G (p.Met1312Arg)

SNV
Germline

Chr7:41965138

Conflicting classifications of pathogenicity

Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Condition: not provided
Polydactyly
Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome
GLI3-related disorder

Criteria Provided
Conflicting Classifications

CA4230224

rs_199875457

9 SubmittersRCV000267903 RCV000307954 RCV000354909 RCV000362619 RCV001083375 RCV004535293

NM_000168.6(GLI3):c.3829C>G (p.Gln1277Glu)

SNV
Germline

Chr7:41965244

Conflicting classifications of pathogenicity

Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA4230250

rs_146582871

5 SubmittersRCV001085856 RCV000725297 RCV002518885 RCV000269527

NM_000168.6(GLI3):c.2826G>T (p.Pro942=)

SNV
Germline

Chr7:41966247

Conflicting classifications of pathogenicity

Condition: not provided
Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome

Criteria Provided
Conflicting Classifications

CA4230519

rs_34245321

3 SubmittersRCV000396560 RCV001078832

NM_000168.6(GLI3):c.1485G>A (p.Glu495=)

SNV
Germline

Chr7:42023480

Conflicting classifications of pathogenicity

Greig cephalopolysyndactyly syndrome
Condition: not provided
Pallister-Hall syndrome
Polydactyly
Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome

Criteria Provided
Conflicting Classifications

CA4230834

rs_149248727

3 SubmittersRCV000283177 RCV000290847 RCV000341599 RCV000380054 RCV002521915

NM_000168.6(GLI3):c.3762T>C (p.Tyr1254=)

SNV
Germline

Chr7:41965311

Conflicting classifications of pathogenicity

Pallister-Hall syndrome
Condition: not provided
Polydactyly
Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome
GLI3-related disorder

Criteria Provided
Conflicting Classifications

CA4230273

rs_148043302

4 SubmittersRCV000293622 RCV000296340 RCV000333919 RCV000388438 RCV001486626 RCV004535322

NM_000168.6(GLI3):c.2245A>G (p.Ile749Val)

SNV
Germline

Chr7:41967782

Conflicting classifications of pathogenicity

Condition: not provided
Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Polydactyly
GLI3-related disorder

Criteria Provided
Conflicting Classifications

CA4230654

rs_140048578

6 SubmittersRCV000725555 RCV000814882 RCV001161436 RCV001161438 RCV001161437 RCV004535337

NM_000168.6(GLI3):c.223C>G (p.Pro75Ala)

SNV
Germline

Chr7:42148370

Conflicting classifications of pathogenicity

Condition: not provided
Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome
Polysyndactyly 4
Polydactyly, postaxial, type A1

Criteria Provided
Conflicting Classifications

CA4231275

rs_369237977

3 SubmittersRCV000294796 RCV001366912 RCV002504000

NM_000168.6(GLI3):c.4560G>A (p.Ser1520=)

SNV
Germline

Chr7:41964513

Conflicting classifications of pathogenicity

Condition: not provided
Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome

Criteria Provided
Conflicting Classifications

CA4230108

rs_79625212

2 SubmittersRCV000265139 RCV002519273

NM_000168.6(GLI3):c.3903A>G (p.Pro1301=)

SNV
Germline

Chr7:41965170

Conflicting classifications of pathogenicity

Condition: not provided
Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome

Criteria Provided
Conflicting Classifications

CA4230228

rs_758771584

2 SubmittersRCV000350836 RCV001089316

NM_000168.6(GLI3):c.648C>T (p.Ile216=)

SNV
Germline

Chr7:42048522

Conflicting classifications of pathogenicity

Condition: not provided
Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome

Criteria Provided
Conflicting Classifications

CA10606137

rs_886043938

2 SubmittersRCV000304319 RCV001088086

NM_000168.6(GLI3):c.1959G>A (p.Pro653=)

SNV
Germline

Chr7:41972481

Conflicting classifications of pathogenicity

Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Polydactyly
Condition: not provided
Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome

Criteria Provided
Conflicting Classifications

CA4230722

rs_148226583

3 SubmittersRCV000295417 RCV000334254 RCV000386435 RCV000398266 RCV001083051

NM_000168.6(GLI3):c.*2276T>C

SNV
Germline

Chr7:41962054

Conflicting classifications of pathogenicity

Polydactyly
Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome

Criteria Provided
Conflicting Classifications

CA10623953

rs_568393106

1 SubmittersRCV000275269 RCV000329234 RCV000365178

NM_000168.6(GLI3):c.*265A>C

SNV
Germline

Chr7:41964065

Conflicting classifications of pathogenicity

Pallister-Hall syndrome
Polydactyly
Greig cephalopolysyndactyly syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10623980

rs_201493390

2 SubmittersRCV000299795 RCV000338396 RCV000392631 RCV001672695

NM_000168.6(GLI3):c.1462G>A (p.Ala488Thr)

SNV
Germline

Chr7:42023503

Conflicting classifications of pathogenicity

Polydactyly
Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4230840

rs_756581886

4 SubmittersRCV000297459 RCV000340635 RCV000399556 RCV001204137 RCV001753837

NM_000168.6(GLI3):c.748C>T (p.Pro250Ser)

SNV
Germline

Chr7:42045462

Conflicting classifications of pathogenicity

Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome
Polydactyly
Condition: not provided
Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome

Criteria Provided
Conflicting Classifications

CA4231077

rs_202039538

3 SubmittersRCV000295892 RCV000329883 RCV000386462 RCV001770283 RCV003105883

NM_000168.6(GLI3):c.*185G>A

SNV
Germline

Chr7:41964145

Conflicting classifications of pathogenicity

Pallister-Hall syndrome
Polydactyly
Greig cephalopolysyndactyly syndrome

Criteria Provided
Conflicting Classifications

CA10626091

rs_531678760

1 SubmittersRCV000279710 RCV000333142 RCV000371464

NM_000168.6(GLI3):c.*3309C>A

SNV
Germline

Chr7:41961021

Conflicting classifications of pathogenicity

Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome
Polydactyly

Criteria Provided
Conflicting Classifications

CA10629176

rs_553151369

1 SubmittersRCV000306970 RCV000365037 RCV000404520

NM_000168.6(GLI3):c.*2666G>A

SNV
Germline

Chr7:41961664

Conflicting classifications of pathogenicity

Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome
Polydactyly
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10629187

rs_117987369

2 SubmittersRCV000260011 RCV000301159 RCV000355919 RCV003430937

NM_000168.6(GLI3):c.*2620C>G

SNV
Germline

Chr7:41961710

Conflicting classifications of pathogenicity

Polydactyly
Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome

Criteria Provided
Conflicting Classifications

CA10629189

rs_56158069

1 SubmittersRCV000265507 RCV000320672 RCV000379806

NM_000168.6(GLI3):c.1845T>C (p.Thr615=)

SNV
Germline

Chr7:41972595

Conflicting classifications of pathogenicity

Greig cephalopolysyndactyly syndrome
Polydactyly
Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome

Criteria Provided
Conflicting Classifications

CA4230743

rs_373687877

2 SubmittersRCV000288074 RCV000345408 RCV000390043 RCV002523596

NM_000168.6(GLI3):c.681G>A (p.Ala227=)

SNV
Germline

Chr7:42045529

Conflicting classifications of pathogenicity

Polydactyly
Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome

Criteria Provided
Conflicting Classifications

CA4231085

rs_752998397

2 SubmittersRCV000290017 RCV000347284 RCV000398784 RCV003766068

NM_000168.6(GLI3):c.313C>T (p.Arg105Cys)

SNV
Germline

Chr7:42148280

Conflicting classifications of pathogenicity

not specified
Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome

Criteria Provided
Conflicting Classifications

CA4231249

rs_555794809

2 SubmittersRCV000413583 RCV002523932

NM_000168.6(GLI3):c.2331C>T (p.His777=)

SNV
Germline

Chr7:41967696

Conflicting classifications of pathogenicity

Condition: not provided
Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome

Criteria Provided
Conflicting Classifications

CA16605109

rs_1057524835

2 SubmittersRCV000434244 RCV002525527

NM_000168.6(GLI3):c.1969G>A (p.Gly657Ser)

SNV
Germline

Chr7:41972471

Conflicting classifications of pathogenicity

Condition: not provided
Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4230720

rs_377579354

3 SubmittersRCV000428276 RCV002056677 RCV002525514

NM_000168.6(GLI3):c.3098C>A (p.Pro1033Gln)

SNV
Germline

Chr7:41965975

Conflicting classifications of pathogenicity

not specified
Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4230455

rs_376956433

4 SubmittersRCV000500463 RCV002524191 RCV003343870

NM_000168.6(GLI3):c.2685C>G (p.Tyr895Ter)

SNV
Germline

Chr7:41966388

Pathogenic

Greig cephalopolysyndactyly syndrome

Criteria Provided
Single Submitter

CA367320563

rs_772948115

1 SubmittersRCV000503394

NM_000168.6(GLI3):c.1182A>G (p.Pro394=)

SNV
Germline

Chr7:42026259

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome

Criteria Provided
Conflicting Classifications

CA4230939

rs_748606221

3 SubmittersRCV000499402 RCV000726840 RCV002524190

NM_000168.6(GLI3):c.3823G>A (p.Gly1275Arg)

SNV
Germline

Chr7:41965250

Conflicting classifications of pathogenicity

Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Polysyndactyly 4
Polydactyly, postaxial, type A1

Criteria Provided
Conflicting Classifications

CA4230251

rs_756156901

2 SubmittersRCV000534571 RCV002497080

NM_000168.6(GLI3):c.2540G>A (p.Arg847Lys)

SNV
Germline

Chr7:41966533

Conflicting classifications of pathogenicity

Condition: not provided
Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Polysyndactyly 4
Greig cephalopolysyndactyly syndrome
Polydactyly, postaxial, type A1

Criteria Provided
Conflicting Classifications

CA4230573

rs_143406263

5 SubmittersRCV000598483 RCV002530989 RCV002491173

NM_000168.6(GLI3):c.1874G>A (p.Arg625Gln)

SNV
Germline

Chr7:41972566

Pathogenic

Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA367322654

rs_1554306094

2 SubmittersRCV000634035 RCV001093382

NM_000168.6(GLI3):c.1028+1G>A

SNV
Germline

Chr7:42040037

Pathogenic/Likely pathogenic

Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome
Polydactyly, postaxial, type A1

Criteria Provided
Multiple Submitters
No Conflicts

CA367328354

rs_1375768446

2 SubmittersRCV000634032 RCV001450021

NM_000168.6(GLI3):c.3324C>A (p.Tyr1108Ter)

SNV
Germline

Chr7:41965749

Pathogenic

Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome

Criteria Provided
Single Submitter

CA367318510

rs_116840766

1 SubmittersRCV000634030

NM_000168.6(GLI3):c.3079C>T (p.Leu1027Phe)

SNV
Germline

Chr7:41965994

Conflicting classifications of pathogenicity

Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4230460

rs_746534141

3 SubmittersRCV000634031 RCV001584461 RCV004025441

NM_000168.6(GLI3):c.1474G>A (p.Asp492Asn)

SNV
Germline

Chr7:42023491

Conflicting classifications of pathogenicity

Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA156892091

rs_886320788

2 SubmittersRCV000634033 RCV002528864

NM_000168.6(GLI3):c.4498G>T (p.Glu1500Ter)

SNV
Germline

Chr7:41964575

Pathogenic

Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome

Criteria Provided
Single Submitter

rs_1562656759

1 SubmittersRCV000686853

NM_000168.6(GLI3):c.3509C>G (p.Ala1170Gly)

SNV
Germline

Chr7:41965564

Conflicting classifications of pathogenicity

Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_143942705

2 SubmittersRCV000703711 RCV002536373

NM_000168.6(GLI3):c.1451G>A (p.Trp484Ter)

SNV
Germline

Chr7:42023514

Pathogenic

Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome

Criteria Provided
Single Submitter

rs_1562690271

1 SubmittersRCV000701080

NM_000168.6(GLI3):c.659G>A (p.Arg220His)

SNV
Germline

Chr7:42048511

Conflicting classifications of pathogenicity

Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
GLI3-related disorder

Criteria Provided
Conflicting Classifications

rs_747805984

2 SubmittersRCV000692750 RCV004527745

NM_000168.6(GLI3):c.2174A>C (p.Asn725Thr)

SNV
Germline

Chr7:41967853

Conflicting classifications of pathogenicity

Condition: not provided
Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Polydactyly, postaxial, type A1
Greig cephalopolysyndactyly syndrome
Polysyndactyly 4

Criteria Provided
Conflicting Classifications

rs_749807129

3 SubmittersRCV000731752 RCV001044472 RCV002485899

NM_000168.6(GLI3):c.3756G>A (p.Pro1252=)

SNV
Germline

Chr7:41965317

Conflicting classifications of pathogenicity

Condition: not provided
Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome

Criteria Provided
Conflicting Classifications

rs_758155716

2 SubmittersRCV000731850 RCV003768216

NM_000168.6(GLI3):c.1622C>T (p.Thr541Met)

SNV
Germline

Chr7:41978624

Conflicting classifications of pathogenicity

8 conditions
Inborn genetic diseases
Condition: not provided
Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome

Criteria Provided
Conflicting Classifications

rs_1562667078

4 SubmittersRCV000855672 RCV001266774 RCV002067220 RCV001204667

NM_000168.6(GLI3):c.1346G>A (p.Arg449Gln)

SNV
Germline

Chr7:42025274

Conflicting classifications of pathogenicity

Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome

Criteria Provided
Conflicting Classifications

rs_745809543

2 SubmittersRCV000804320

NM_000168.6(GLI3):c.1096C>T (p.Arg366Ter)

SNV
Germline

Chr7:42026345

Pathogenic

Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Condition: not provided

Criteria Provided
Single Submitter

rs_1583805203

3 SubmittersRCV000822914 RCV001579780

NM_000168.6(GLI3):c.781G>A (p.Ala261Thr)

SNV
Germline

Chr7:42045429

Conflicting classifications of pathogenicity

Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Condition: not provided
Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Polysyndactyly 4
Polydactyly, postaxial, type A1

Criteria Provided
Conflicting Classifications

rs_139274834

3 SubmittersRCV000812607 RCV001759572 RCV002501108

NM_000168.6(GLI3):c.753T>G (p.Tyr251Ter)

SNV
Germline

Chr7:42045457

Pathogenic

Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome

Criteria Provided
Single Submitter

rs_1583505882

1 SubmittersRCV000799089

NM_000168.6(GLI3):c.539G>A (p.Arg180Gln)

SNV
Germline

Chr7:42048631

Conflicting classifications of pathogenicity

Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Polysyndactyly 4
Polydactyly, postaxial, type A1
GLI3-related disorder

Criteria Provided
Conflicting Classifications

rs_140772904

4 SubmittersRCV000797078 RCV001849447 RCV002495052 RCV004538093

NM_000168.6(GLI3):c.1028+3A>T

SNV
Germline

Chr7:42040035

Conflicting classifications of pathogenicity

Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
not specified
GLI3-related disorder

Criteria Provided
Conflicting Classifications

rs_368499795

3 SubmittersRCV001506252 RCV001819688 RCV004536004

NM_000168.6(GLI3):c.4076G>A (p.Gly1359Glu)

SNV
Unknown

Chr7:41964997

Likely pathogenic

Greig cephalopolysyndactyly syndrome

Criteria Provided
Single Submitter

rs_1583728402

1 SubmittersRCV000987864

NM_000168.6(GLI3):c.4508A>T (p.Gln1503Leu)

SNV
Germline

Chr7:41964565

Conflicting classifications of pathogenicity

Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome
Polysyndactyly 4
Pallister-Hall syndrome
Polydactyly, postaxial, type A1

Criteria Provided
Conflicting Classifications

rs_1359183911

2 SubmittersRCV001051098 RCV002497400

NM_000168.6(GLI3):c.3877C>G (p.Leu1293Val)

SNV
Germline

Chr7:41965196

Conflicting classifications of pathogenicity

Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome
Polysyndactyly 4
Pallister-Hall syndrome
Polydactyly, postaxial, type A1

Criteria Provided
Conflicting Classifications

rs_1476153727

2 SubmittersRCV001044473 RCV002481913

NM_000168.6(GLI3):c.2623C>T (p.Arg875Cys)

SNV
Germline

Chr7:41966450

Conflicting classifications of pathogenicity

Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Polysyndactyly 4
Polydactyly, postaxial, type A1

Criteria Provided
Conflicting Classifications

rs_755227076

2 SubmittersRCV001044661 RCV002481915

NM_000168.6(GLI3):c.91G>T (p.Glu31Ter)

SNV
Germline

Chr7:42223163

Pathogenic

Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome

Criteria Provided
Single Submitter

rs_1788520333

1 SubmittersRCV001071422

NM_000168.6(GLI3):c.1497+1G>A

SNV
Germline

Chr7:42023467

Pathogenic

Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1399654830

4 SubmittersRCV001041488 RCV001093384

NM_000168.6(GLI3):c.473+5G>A

SNV
Germline

Chr7:42076747

Conflicting classifications of pathogenicity

Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Polysyndactyly 4

Criteria Provided
Conflicting Classifications

rs_1784885465

2 SubmittersRCV001052560 RCV001726427

NM_000168.6(GLI3):c.*2517G>A

SNV
Germline

Chr7:41961813

Conflicting classifications of pathogenicity

Polydactyly
Greig cephalopolysyndactyly syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_568690074

2 SubmittersRCV001160437 RCV001160438 RCV003433060

NM_000168.6(GLI3):c.*248T>A

SNV
Germline

Chr7:41964082

Conflicting classifications of pathogenicity

Polydactyly
Greig cephalopolysyndactyly syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_61091998

2 SubmittersRCV001160839 RCV001160840 RCV001673021

NM_000168.6(GLI3):c.3622G>T (p.Gly1208Trp)

SNV
Germline

Chr7:41965451

Conflicting classifications of pathogenicity

Pallister-Hall syndrome
Polydactyly
Greig cephalopolysyndactyly syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_369440387

2 SubmittersRCV001159798 RCV001159797 RCV001159799 RCV002557365

NM_000168.6(GLI3):c.2004G>A (p.Pro668=)

SNV
Germline

Chr7:41972436

Conflicting classifications of pathogenicity

Greig cephalopolysyndactyly syndrome
Polydactyly
Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome

Criteria Provided
Conflicting Classifications

rs_867192725

2 SubmittersRCV001162976 RCV001162977 RCV002067981

NM_000168.6(GLI3):c.776C>G (p.Ala259Gly)

SNV
Germline

Chr7:42045434

Conflicting classifications of pathogenicity

Greig cephalopolysyndactyly syndrome
Polydactyly
Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome

Criteria Provided
Conflicting Classifications

rs_565817241

4 SubmittersRCV001161775 RCV001161776 RCV003769777

NM_000168.6(GLI3):c.3591G>A (p.Met1197Ile)

SNV
Germline

Chr7:41965482

Conflicting classifications of pathogenicity

Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Polydactyly, postaxial, type A1
Polysyndactyly 4

Criteria Provided
Conflicting Classifications

rs_1374541235

2 SubmittersRCV001216988 RCV002497740

NM_000168.6(GLI3):c.658C>T (p.Arg220Cys)

SNV
Germline

Chr7:42048512

Conflicting classifications of pathogenicity

Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Polysyndactyly 4
Polydactyly, postaxial, type A1

Criteria Provided
Conflicting Classifications

rs_758039889

2 SubmittersRCV001242651 RCV002484334

NM_000168.6(GLI3):c.1862C>T (p.Pro621Leu)

SNV
Germline

Chr7:41972578

Pathogenic

Greig cephalopolysyndactyly syndrome

No Assertion Criteria Provided

rs_1787394130

1 SubmittersRCV001255861

NM_000168.6(GLI3):c.3611C>G (p.Pro1204Arg)

SNV
Germline

Chr7:41965462

Conflicting classifications of pathogenicity

Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Polysyndactyly 4
Polydactyly, postaxial, type A1
Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_543636524

3 SubmittersRCV001344236 RCV002493764 RCV003263980

NM_000168.6(GLI3):c.827-2A>G

SNV
Germline

Chr7:42040241

Likely pathogenic

Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome

Criteria Provided
Single Submitter

rs_2128738764

1 SubmittersRCV001379344

NM_000168.6(GLI3):c.1999C>T (p.Arg667Ter)

SNV
Germline

Chr7:41972441

Pathogenic

Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

rs_781422192

4 SubmittersRCV001450018 RCV002246386 RCV002265029 RCV003264039

NM_000168.6(GLI3):c.650C>G (p.Ser217Ter)

SNV
Germline

Chr7:42048520

Pathogenic

Greig cephalopolysyndactyly syndrome
Polydactyly, postaxial, type A1

Criteria Provided
Single Submitter

rs_2128742651

1 SubmittersRCV001450023

NM_000168.6(GLI3):c.233C>T (p.Ser78Leu)

SNV
Germline

Chr7:42148360

Conflicting classifications of pathogenicity

Hepatoblastoma
Greig cephalopolysyndactyly syndrome
Polydactyly, postaxial, type A1
Pallister-Hall syndrome
Polysyndactyly 4
Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome

Criteria Provided
Conflicting Classifications

rs_777937822

3 SubmittersRCV001843896 RCV002482387 RCV003120719

NM_000168.6(GLI3):c.245G>A (p.Arg82Lys)

SNV
Germline

Chr7:42148348

Conflicting classifications of pathogenicity

Hepatoblastoma
Condition: not provided
Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome

Criteria Provided
Conflicting Classifications

rs_754143860

3 SubmittersRCV001843897 RCV002291774 RCV002077329

NM_000168.6(GLI3):c.3762T>G (p.Tyr1254Ter)

SNV
Germline

Chr7:41965311

Pathogenic

Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome

Criteria Provided
Single Submitter

rs_148043302

1 SubmittersRCV001924251

NM_000168.6(GLI3):c.4427A>T (p.Asn1476Ile)

SNV
Germline

Chr7:41964646

Conflicting classifications of pathogenicity

Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Polysyndactyly 4
Greig cephalopolysyndactyly syndrome
Polydactyly, postaxial, type A1
Pallister-Hall syndrome
GLI3-related disorder

Criteria Provided
Conflicting Classifications

rs_138100963

3 SubmittersRCV001979971 RCV002479559 RCV004538670

NM_000168.6(GLI3):c.1865G>A (p.Ser622Asn)

SNV
Germline

Chr7:41972575

Likely pathogenic

Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome

Criteria Provided
Single Submitter

rs_2128710024

1 SubmittersRCV001888445

NM_000168.6(GLI3):c.3557C>T (p.Pro1186Leu)

SNV
Germline

Chr7:41965516

Conflicting classifications of pathogenicity

Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Polysyndactyly 4
Greig cephalopolysyndactyly syndrome
Polydactyly, postaxial, type A1
Pallister-Hall syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_541487979

3 SubmittersRCV002002336 RCV002484774 RCV003426264

NM_000168.6(GLI3):c.1159T>C (p.Phe387Leu)

SNV
Germline

Chr7:42026282

Conflicting classifications of pathogenicity

Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_370794111

2 SubmittersRCV001919722 RCV003247115

NM_000168.6(GLI3):c.4292C>T (p.Pro1431Leu)

SNV
Germline

Chr7:41964781

Conflicting classifications of pathogenicity

Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Polydactyly, postaxial, type A1
Polysyndactyly 4
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_144128064

3 SubmittersRCV001906603 RCV002478339 RCV002253991

NM_000168.6(GLI3):c.3899C>T (p.Ala1300Val)

SNV
Germline

Chr7:41965174

Conflicting classifications of pathogenicity

Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_751790458

2 SubmittersRCV001935901 RCV003264261

NM_000168.6(GLI3):c.2432-1G>A

SNV
Germline

Chr7:41966642

Pathogenic

Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome

Criteria Provided
Single Submitter

rs_2128706417

1 SubmittersRCV001935371

NM_000168.6(GLI3):c.4507C>T (p.Gln1503Ter)

SNV
Germline

Chr7:41964566

Pathogenic

Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome

Criteria Provided
Single Submitter

rs_2128704828

1 SubmittersRCV001895418

NM_000168.6(GLI3):c.2308G>T (p.Ala770Ser)

SNV
Germline

Chr7:41967719

Conflicting classifications of pathogenicity

Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome
not specified

Criteria Provided
Conflicting Classifications

rs_1355649064

2 SubmittersRCV002166102 RCV004526913

NM_000168.6(GLI3):c.434G>A (p.Arg145His)

SNV
Germline

Chr7:42076791

Conflicting classifications of pathogenicity

Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_768622457

2 SubmittersRCV002106153 RCV003053421

NM_000168.6(GLI3):c.613C>T (p.Arg205Cys)

SNV
Germline

Chr7:42048557

Conflicting classifications of pathogenicity

Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_767832980

2 SubmittersRCV002199035 RCV003161677

NM_000168.6(GLI3):c.4180C>T (p.Arg1394Cys)

SNV
Germline

Chr7:41964893

Conflicting classifications of pathogenicity

Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_577664817

2 SubmittersRCV002115913 RCV003134387

NM_000168.6(GLI3):c.473+1G>A

SNV
Germline

Chr7:42076751

Pathogenic

Greig cephalopolysyndactyly syndrome

Criteria Provided
Single Submitter

rs_2128751733

1 SubmittersRCV002227906

NM_000168.6(GLI3):c.2659C>A (p.Gln887Lys)

SNV
Germline

Chr7:41966414

Conflicting classifications of pathogenicity

Condition: not provided
Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002306142 RCV003775010

NM_000168.6(GLI3):c.2257A>G (p.Thr753Ala)

SNV
Germline

Chr7:41967770

Conflicting classifications of pathogenicity

Condition: not provided
Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002469707 RCV002571433

NM_000168.6(GLI3):c.1459T>A (p.Cys487Ser)

SNV
Germline

Chr7:42023506

Conflicting classifications of pathogenicity

Greig cephalopolysyndactyly syndrome
Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002471384 RCV003775510

NM_000168.6(GLI3):c.293C>T (p.Ala98Val)

SNV
Germline

Chr7:42148300

Conflicting classifications of pathogenicity

Condition: not provided
Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002510144 RCV002574728

NM_000168.6(GLI3):c.2862G>T (p.Lys954Asn)

SNV
Germline

Chr7:41966211

Conflicting classifications of pathogenicity

Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003071350 RCV003171048

NM_000168.6(GLI3):c.3092A>G (p.Asn1031Ser)

SNV
Germline

Chr7:41965981

Conflicting classifications of pathogenicity

Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome
GLI3-related disorder

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002634027 RCV004529223

NM_000168.6(GLI3):c.1463C>T (p.Ala488Val)

SNV
Germline

Chr7:42023502

Conflicting classifications of pathogenicity

Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
GLI3-related disorder

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003106724 RCV004538886

NM_000168.6(GLI3):c.4392C>A (p.Asp1464Glu)

SNV
Germline

Chr7:41964681

Conflicting classifications of pathogenicity

Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome
GLI3-related disorder

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002746393 RCV004534188

NM_000168.6(GLI3):c.2445C>A (p.Asn815Lys)

SNV
Germline

Chr7:41966628

Conflicting classifications of pathogenicity

Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002805459 RCV004064733

NM_000168.6(GLI3):c.368-1G>C

SNV
Germline

Chr7:42076858

Likely pathogenic

Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002820371

NM_000168.6(GLI3):c.3147C>A (p.Tyr1049Ter)

SNV
Germline

Chr7:41965926

Pathogenic

Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002889144

NM_000168.6(GLI3):c.474-3C>T

SNV
Germline

Chr7:42048699

Conflicting classifications of pathogenicity

Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
GLI3-related disorder

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002899680 RCV004536432

NM_000168.6(GLI3):c.4354C>T (p.Gln1452Ter)

SNV
Germline

Chr7:41964719

Pathogenic

Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002938784

NM_000168.6(GLI3):c.2329C>T (p.His777Tyr)

SNV
Germline

Chr7:41967698

Conflicting classifications of pathogenicity

Inborn genetic diseases
Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002904655 RCV002922114 RCV003992687

NM_000168.6(GLI3):c.367+1G>A

SNV
Germline

Chr7:42148225

Likely pathogenic

Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002942550

NM_000168.6(GLI3):c.368-2A>C

SNV
Germline

Chr7:42076859

Likely pathogenic

Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003008916

NM_000168.6(GLI3):c.2501C>G (p.Ser834Cys)

SNV
Germline

Chr7:41966572

Conflicting classifications of pathogenicity

Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome
GLI3-related disorder

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002976094 RCV004536499

NM_000168.6(GLI3):c.2163C>T (p.Ser721=)

SNV
Germline

Chr7:41967864

Conflicting classifications of pathogenicity

Condition: not provided
Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003129017 RCV003778684

NM_000168.6(GLI3):c.2957G>A (p.Gly986Asp)

SNV
Germline

Chr7:41966116

Conflicting classifications of pathogenicity

Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003783016 RCV004374383

NM_000168.6(GLI3):c.2961C>G (p.Tyr987Ter)

SNV
Germline

Chr7:41966112

Pathogenic

Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003806113

NM_000168.6(GLI3):c.3442C>T (p.Gln1148Ter)

SNV
Germline

Chr7:41965631

Pathogenic

Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003803344

NM_000168.6(GLI3):c.4081G>T (p.Glu1361Ter)

SNV
Germline

Chr7:41964992

Pathogenic

Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003813149