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	Polysyndactyly 4 Greig cephalopolysyndactyly syndrome Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome	Criteria Provided Multiple Submitters No Conflicts	CA123498	rs_121917713	3 SubmittersRCV000014838 RCV000014837 RCV000554724
NM_000168.6(GLI3):c.2374C>T (p.Arg792Ter)	SNV Germline	Chr7:41967653	Pathogenic	Condition: not provided Greig cephalopolysyndactyly syndrome Polydactyly, postaxial, type A1 Polydactyly, postaxial, type A1 Greig cephalopolysyndactyly syndrome Polysyndactyly 4 Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome GLI3-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA256983	rs_121917714	12 SubmittersRCV000489344 RCV000014840 RCV001450016 RCV005031437 RCV001047666 RCV004732544
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 Hirschsprung disease, susceptibility to, 1 not specified Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA256987	rs_121917716	8 SubmittersRCV000014843 RCV000508658 RCV000500441 RCV000542657 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.3695A>C (p.His1232Pro)	SNV Germline	Chr7:41965378	Conflicting classifications of pathogenicity	not specified Polysyndactyly 4 Polydactyly, postaxial, type A1 Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome	Criteria Provided Conflicting Classifications	CA205797	rs_780924905	2 SubmittersRCV000192754 RCV005042412
NM_000168.6(GLI3):c.1207G>A (p.Val403Ile)	SNV Germline	Chr7:42026234	Conflicting classifications of pathogenicity	Polydactyly not specified Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA207359	rs_201070431	4 SubmittersRCV000365900 RCV000193696 RCV000268836 RCV000326204 RCV002517076 RCV002517940
NM_000168.6(GLI3):c.743G>A (p.Arg248His)	SNV Germline	Chr7:42045467	Conflicting classifications of pathogenicity	not specified Polydactyly, postaxial, type A1 Polysyndactyly 4 Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome	Criteria Provided Conflicting Classifications	CA4231078	rs_186337909	3 SubmittersRCV000253528 RCV005044503 RCV005222852
NM_000168.6(GLI3):c.3118G>A (p.Glu1040Lys)	SNV Germline	Chr7:41965955	Conflicting classifications of pathogenicity	Condition: not provided Pallister-Hall syndrome Polydactyly Greig cephalopolysyndactyly syndrome Polysyndactyly 4 Greig cephalopolysyndactyly syndrome Polydactyly, postaxial, type A1 Hamartoma of hypothalamus Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome	Criteria Provided Conflicting Classifications	CA4230443	rs_772839719	4 SubmittersRCV000255158 RCV000387520 RCV000329014 RCV000273966 RCV000764715 RCV005222858
NM_000168.6(GLI3):c.241G>A (p.Glu81Lys)	SNV Germline	Chr7:42148352	Conflicting classifications of pathogenicity	Condition: not provided Polysyndactyly 4 Greig cephalopolysyndactyly syndrome Polydactyly, postaxial, type A1 Hamartoma of hypothalamus Pallister-Hall syndrome Polydactyly Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Inborn genetic diseases Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome	Criteria Provided Conflicting Classifications	CA4231269	rs_376725882	5 SubmittersRCV000255549 RCV000764716 RCV001158783 RCV001158784 RCV001158785 RCV004021025 RCV003765568
NM_000168.6(GLI3):c.2200G>A (p.Asp734Asn)	SNV Germline	Chr7:41967827	Conflicting classifications of pathogenicity	Condition: not provided Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Polysyndactyly 4 Polydactyly, postaxial, type A1 Pallister-Hall syndrome Greig cephalopolysyndactyly 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	Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Condition: not provided Polydactyly Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome GLI3-related disorder	Criteria Provided Conflicting Classifications	CA4230224	rs_199875457	9 SubmittersRCV000307954 RCV000267903 RCV000354909 RCV000362619 RCV001083375 RCV004535293
NM_000168.6(GLI3):c.3829C>G (p.Gln1277Glu)	SNV Germline	Chr7:41965244	Conflicting classifications of pathogenicity	not specified Condition: not provided Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4230250	rs_146582871	5 SubmittersRCV000269527 RCV000725297 RCV001085856 RCV002518885
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 Pallister-Hall syndrome Greig cephalopolysyndactyly 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 Polydactyly, postaxial, type A1 Polysyndactyly 4 Greig cephalopolysyndactyly syndrome	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.3119A>T (p.Glu1040Val)	SNV Germline	Chr7:41965954	Conflicting classifications of pathogenicity	Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Polydactyly not specified Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA4230442	rs_376477553	4 SubmittersRCV001162752 RCV001162753 RCV001162754 RCV000359414 RCV004975397 RCV005431597
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 Pallister-Hall syndrome Greig cephalopolysyndactyly 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.3631G>A (p.Gly1211Arg)	SNV Germline	Chr7:41965442	Conflicting classifications of pathogenicity	Greig cephalopolysyndactyly syndrome Polydactyly Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA4230310	rs_757059523	4 SubmittersRCV000305075 RCV000344954 RCV000406991 RCV001034036 RCV004760483
NM_000168.6(GLI3):c.1462G>A (p.Ala488Thr)	SNV Germline	Chr7:42023503	Conflicting classifications of pathogenicity	Polydactyly Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA4230840	rs_756581886	4 SubmittersRCV000297459 RCV000340635 RCV001204137 RCV000399556 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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4231077	rs_202039538	4 SubmittersRCV000295892 RCV000329883 RCV000386462 RCV001770283 RCV003105883 RCV004629204
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.2960A>G (p.Tyr987Cys)	SNV Germline	Chr7:41966113	Conflicting classifications of pathogenicity	Greig cephalopolysyndactyly syndrome Polydactyly Pallister-Hall syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4230492	rs_777313061	2 SubmittersRCV000271369 RCV000326387 RCV000362411 RCV004984849
NM_000168.6(GLI3):c.367C>T (p.His123Tyr)	SNV Germline	Chr7:42148226	Conflicting classifications of pathogenicity	Polydactyly Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Polydactyly, postaxial, type A1 Polysyndactyly 4 Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome	Criteria Provided Conflicting Classifications	CA4231236	rs_199909375	2 SubmittersRCV000300541 RCV000335666 RCV000390009 RCV005033907
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 Pallister-Hall syndrome Greig cephalopolysyndactyly 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 Pallister-Hall syndrome Greig cephalopolysyndactyly 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 Pallister-Hall syndrome Greig cephalopolysyndactyly 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 Pallister-Hall syndrome Greig cephalopolysyndactyly 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 Greig cephalopolysyndactyly syndrome Pallister-Hall 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	Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Polysyndactyly 4 Polydactyly, postaxial, type A1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4230251	rs_756156901	3 SubmittersRCV000534571 RCV002497080 RCV005348147
NM_000168.6(GLI3):c.2540G>A (p.Arg847Lys)	SNV Germline	Chr7:41966533	Conflicting classifications of pathogenicity	Condition: not provided Pallister-Hall syndrome Polydactyly, postaxial, type A1 Greig cephalopolysyndactyly syndrome Polysyndactyly 4 Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome	Criteria Provided Conflicting Classifications	CA4230573	rs_143406263	5 SubmittersRCV000598483 RCV002491173 RCV002530989
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	Greig cephalopolysyndactyly syndrome Pallister-Hall 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	Greig cephalopolysyndactyly syndrome Pallister-Hall 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	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome	Criteria Provided Single Submitter	CA367314894	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 GLI3-related disorder	Criteria Provided Conflicting Classifications	CA4230348	rs_143942705	3 SubmittersRCV000703711 RCV002536373 RCV004733010
NM_000168.6(GLI3):c.1451G>A (p.Trp484Ter)	SNV Germline	Chr7:42023514	Pathogenic	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome	Criteria Provided Single Submitter	CA367323907	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 Polysyndactyly 4 Greig cephalopolysyndactyly syndrome Polydactyly, postaxial, type A1 Pallister-Hall syndrome not specified	Criteria Provided Conflicting Classifications	CA4231123	rs_747805984	4 SubmittersRCV000692750 RCV004527745 RCV005034302 RCV005436014
NM_000168.6(GLI3):c.2174A>C (p.Asn725Thr)	SNV Germline	Chr7:41967853	Conflicting classifications of pathogenicity	Condition: not provided 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	CA4230670	rs_749807129	4 SubmittersRCV000731752 RCV001044472 RCV002485899 RCV005572374
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	CA4230275	rs_758155716	2 SubmittersRCV000731850 RCV003768216
NM_000168.6(GLI3):c.1622C>T (p.Thr541Met)	SNV Germline	Chr7:41978624	Conflicting classifications of pathogenicity	8 conditions Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA367325470	rs_1562667078	4 SubmittersRCV000855672 RCV001204667 RCV001266774 RCV002067220
NM_000168.6(GLI3):c.1346G>A (p.Arg449Gln)	SNV Germline	Chr7:42025274	Conflicting classifications of pathogenicity	Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome GLI3-related disorder	Criteria Provided Conflicting Classifications	CA4230885	rs_745809543	3 SubmittersRCV000804320 RCV004733048
NM_000168.6(GLI3):c.1096C>T (p.Arg366Ter)	SNV Germline	Chr7:42026345	Pathogenic	Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA367326938	rs_1583805203	4 SubmittersRCV000822914 RCV001579780
NM_000168.6(GLI3):c.781G>A (p.Ala261Thr)	SNV Germline	Chr7:42045429	Conflicting classifications of pathogenicity	Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Condition: not provided Polydactyly, postaxial, type A1 Pallister-Hall syndrome Polysyndactyly 4 Greig cephalopolysyndactyly syndrome	Criteria Provided Conflicting Classifications	CA4231066	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	CA367331097	rs_1583505882	1 SubmittersRCV000799089
NM_000168.6(GLI3):c.539G>A (p.Arg180Gln)	SNV Germline	Chr7:42048631	Conflicting classifications of pathogenicity	Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Polysyndactyly 4 Polydactyly, postaxial, type A1 Greig cephalopolysyndactyly syndrome Greig cephalopolysyndactyly syndrome GLI3-related disorder	Criteria Provided Conflicting Classifications	CA4231149	rs_140772904	4 SubmittersRCV000797078 RCV002495052 RCV001849447 RCV004538093
NM_000168.6(GLI3):c.1222G>A (p.Gly408Ser)	SNV Germline	Chr7:42026219	Conflicting classifications of pathogenicity	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA4230928	rs_200411081	4 SubmittersRCV001500958 RCV004030050 RCV004705990
NM_000168.6(GLI3):c.1028+3A>T	SNV Germline	Chr7:42040035	Conflicting classifications of pathogenicity	not specified Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome GLI3-related disorder	Criteria Provided Conflicting Classifications	CA4230995	rs_368499795	3 SubmittersRCV001819688 RCV001506252 RCV004536004
NM_000168.6(GLI3):c.4076G>A (p.Gly1359Glu)	SNV Unknown	Chr7:41964997	Likely pathogenic	Greig cephalopolysyndactyly syndrome	Criteria Provided Single Submitter	CA367315815	rs_1583728402	1 SubmittersRCV000987864
NM_000168.6(GLI3):c.2981C>G (p.Pro994Arg)	SNV Germline	Chr7:41966092	Conflicting classifications of pathogenicity	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4230484	rs_772285708	2 SubmittersRCV001034167 RCV005348262
NM_000168.6(GLI3):c.4709C>T (p.Ala1570Val)	SNV Germline	Chr7:41964364	Conflicting classifications of pathogenicity	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome not specified Greig cephalopolysyndactyly syndrome Polydactyly, postaxial, type A1 Polysyndactyly 4 Pallister-Hall syndrome	Criteria Provided Conflicting Classifications	CA4230068	rs_41305933	3 SubmittersRCV001055857 RCV005436973 RCV002482006
NM_000168.6(GLI3):c.4508A>T (p.Gln1503Leu)	SNV Germline	Chr7:41964565	Conflicting classifications of pathogenicity	Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Polysyndactyly 4 Greig cephalopolysyndactyly syndrome Polydactyly, postaxial, type A1	Criteria Provided Conflicting Classifications	CA367314871	rs_1359183911	2 SubmittersRCV001051098 RCV002497400
NM_000168.6(GLI3):c.4382C>T (p.Ser1461Phe)	SNV Germline	Chr7:41964691	Conflicting classifications of pathogenicity	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA4230141	rs_149543947	2 SubmittersRCV001047574 RCV005001138
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 Polydactyly, postaxial, type A1 Pallister-Hall syndrome Polysyndactyly 4	Criteria Provided Conflicting Classifications	CA367316246	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 Polydactyly, postaxial, type A1 Pallister-Hall syndrome Polysyndactyly 4	Criteria Provided Conflicting Classifications	CA4230561	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	CA367551149	rs_1788520333	1 SubmittersRCV001071422
NM_000168.6(GLI3):c.1497+1G>A	SNV Germline	Chr7:42023467	Pathogenic/Likely pathogenic	Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA367323668	rs_1399654830	5 SubmittersRCV001041488 RCV001093384
NM_000168.6(GLI3):c.473+5G>A	SNV Germline	Chr7:42076747	Conflicting classifications of pathogenicity	Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Polysyndactyly 4	Criteria Provided Conflicting Classifications	CA916082925	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	CA156898742	rs_568690074	2 SubmittersRCV001160437 RCV001160438 RCV003433060
NM_000168.6(GLI3):c.*248T>A	SNV Germline	Chr7:41964082	Conflicting classifications of pathogenicity	Condition: not provided Polydactyly Greig cephalopolysyndactyly syndrome	Criteria Provided Conflicting Classifications	CA156900966	rs_61091998	2 SubmittersRCV001673021 RCV001160839 RCV001160840
NM_000168.6(GLI3):c.3622G>T (p.Gly1208Trp)	SNV Germline	Chr7:41965451	Conflicting classifications of pathogenicity	Pallister-Hall syndrome Polydactyly Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4230317	rs_369440387	3 SubmittersRCV001159798 RCV001159797 RCV001159799 RCV005213476 RCV002557365
NM_000168.6(GLI3):c.2004G>A (p.Pro668=)	SNV Germline	Chr7:41972436	Conflicting classifications of pathogenicity	Greig cephalopolysyndactyly syndrome Polydactyly Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome	Criteria Provided Conflicting Classifications	CA156913752	rs_867192725	2 SubmittersRCV001162976 RCV001162977 RCV002067981
NM_000168.6(GLI3):c.1057G>A (p.Ala353Thr)	SNV Germline	Chr7:42026384	Conflicting classifications of pathogenicity	Greig cephalopolysyndactyly syndrome Polydactyly, postaxial, type A1 Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Polysyndactyly 4 Polydactyly	Criteria Provided Conflicting Classifications	CA4230958	rs_375277249	2 SubmittersRCV001161662 RCV002505740 RCV001161661
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 Polydactyly, postaxial, type A1 Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Polysyndactyly 4	Criteria Provided Conflicting Classifications	CA4231069	rs_565817241	5 SubmittersRCV001161775 RCV001161776 RCV003769777 RCV005036433
NM_000168.6(GLI3):c.3591G>A (p.Met1197Ile)	SNV Germline	Chr7:41965482	Conflicting classifications of pathogenicity	Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Polydactyly, postaxial, type A1 Polysyndactyly 4	Criteria Provided Conflicting Classifications	CA367317718	rs_1374541235	2 SubmittersRCV001216988 RCV002497740
NM_000168.6(GLI3):c.658C>T (p.Arg220Cys)	SNV Germline	Chr7:42048512	Conflicting classifications of pathogenicity	Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Polysyndactyly 4 Greig cephalopolysyndactyly syndrome Polydactyly, postaxial, type A1	Criteria Provided Conflicting Classifications	CA4231124	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	CA367322702	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 Inborn genetic diseases Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Polydactyly, postaxial, type A1 Polysyndactyly 4	Criteria Provided Conflicting Classifications	CA4230322	rs_543636524	3 SubmittersRCV001344236 RCV003263980 RCV002493764
NM_000168.6(GLI3):c.827-2A>G	SNV Germline	Chr7:42040241	Likely pathogenic	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome	Criteria Provided Single Submitter	CA367329832	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	CA4230712	rs_781422192	4 SubmittersRCV001450018 RCV002246386 RCV002265029 RCV003264039
NM_000168.6(GLI3):c.650C>G (p.Ser217Ter)	SNV Germline	Chr7:42048520	Pathogenic	Polydactyly, postaxial, type A1 Greig cephalopolysyndactyly syndrome	Criteria Provided Single Submitter	CA367332903	rs_2128742651	1 SubmittersRCV001450023
NM_000168.6(GLI3):c.3893C>T (p.Pro1298Leu)	SNV Germline	Chr7:41965180	Conflicting classifications of pathogenicity	Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4230233	rs_182571462	2 SubmittersRCV001513199 RCV005572617
NM_000168.6(GLI3):c.2735G>A (p.Ser912Asn)	SNV Germline	Chr7:41966338	Conflicting classifications of pathogenicity	Condition: not provided Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4230537	rs_757735624	3 SubmittersRCV001567363 RCV002569037 RCV004631724
NM_000168.6(GLI3):c.233C>T (p.Ser78Leu)	SNV Germline	Chr7:42148360	Conflicting classifications of pathogenicity	Hepatoblastoma Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Polysyndactyly 4 Polydactyly, postaxial, type A1 Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome	Criteria Provided Conflicting Classifications	CA4231273	rs_777937822	3 SubmittersRCV001843896 RCV003120719 RCV002482387
NM_000168.6(GLI3):c.245G>A (p.Arg82Lys)	SNV Germline	Chr7:42148348	Conflicting classifications of pathogenicity	Hepatoblastoma Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Condition: not provided Polysyndactyly 4 Polydactyly, postaxial, type A1 Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome	Criteria Provided Conflicting Classifications	CA4231268	rs_754143860	4 SubmittersRCV001843897 RCV002077329 RCV002291774 RCV005040407
NM_000168.6(GLI3):c.3762T>G (p.Tyr1254Ter)	SNV Germline	Chr7:41965311	Pathogenic	Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome	Criteria Provided Single Submitter	CA367317093	rs_148043302	1 SubmittersRCV001924251
NM_000168.6(GLI3):c.4427A>T (p.Asn1476Ile)	SNV Germline	Chr7:41964646	Conflicting classifications of pathogenicity	Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Polysyndactyly 4 Pallister-Hall syndrome Polydactyly, postaxial, type A1 Greig cephalopolysyndactyly syndrome GLI3-related disorder Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4230133	rs_138100963	5 SubmittersRCV001979971 RCV002479559 RCV004538670 RCV004728983 RCV004975982
NM_000168.6(GLI3):c.1865G>A (p.Ser622Asn)	SNV Germline	Chr7:41972575	Likely pathogenic	Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome	Criteria Provided Single Submitter	CA367322689	rs_2128710024	1 SubmittersRCV001888445
NM_000168.6(GLI3):c.1253C>T (p.Thr418Met)	SNV Germline	Chr7:42025367	Conflicting classifications of pathogenicity	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4230900	rs_757359712	2 SubmittersRCV001984879 RCV002562076
NM_000168.6(GLI3):c.3557C>T (p.Pro1186Leu)	SNV Germline	Chr7:41965516	Conflicting classifications of pathogenicity	Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Polysyndactyly 4 Polydactyly, postaxial, type A1 Greig cephalopolysyndactyly syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA4230336	rs_541487979	3 SubmittersRCV002002336 RCV002484774 RCV003426264
NM_000168.6(GLI3):c.1159T>C (p.Phe387Leu)	SNV Germline	Chr7:42026282	Conflicting classifications of pathogenicity	Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Inborn genetic diseases Pallister-Hall syndrome Polydactyly, postaxial, type A1 Polysyndactyly 4 Greig cephalopolysyndactyly syndrome	Criteria Provided Conflicting Classifications	CA4230941	rs_370794111	3 SubmittersRCV001919722 RCV003247115 RCV005042474
NM_000168.6(GLI3):c.4292C>T (p.Pro1431Leu)	SNV Germline	Chr7:41964781	Conflicting classifications of pathogenicity	Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Polysyndactyly 4 Pallister-Hall syndrome Polydactyly, postaxial, type A1 Greig cephalopolysyndactyly syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA4230158	rs_144128064	3 SubmittersRCV001906603 RCV002478339 RCV002253991
NM_000168.6(GLI3):c.3899C>T (p.Ala1300Val)	SNV Germline	Chr7:41965174	Conflicting classifications of pathogenicity	Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4230230	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	CA367321103	rs_2128706417	1 SubmittersRCV001935371
NM_000168.6(GLI3):c.4507C>T (p.Gln1503Ter)	SNV Germline	Chr7:41964566	Pathogenic	Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome	Criteria Provided Single Submitter	CA367314874	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 Condition: not provided not specified Pallister-Hall syndrome Polydactyly, postaxial, type A1 Greig cephalopolysyndactyly syndrome Polysyndactyly 4	Criteria Provided Conflicting Classifications	CA367321361	rs_1355649064	4 SubmittersRCV002166102 RCV004770412 RCV004526913 RCV005032169
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	CA4231195	rs_768622457	2 SubmittersRCV002106153 RCV003053421
NM_000168.6(GLI3):c.613C>T (p.Arg205Cys)	SNV Germline	Chr7:42048557	Conflicting classifications of pathogenicity	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4231133	rs_767832980	2 SubmittersRCV002199035 RCV003161677
NM_000168.6(GLI3):c.1325A>G (p.Asp442Gly)	SNV Germline	Chr7:42025295	Conflicting classifications of pathogenicity	Pallister-Hall syndrome Polysyndactyly 4 Polydactyly, postaxial, type A1 Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome	Criteria Provided Conflicting Classifications	CA4230888	rs_749073077	2 SubmittersRCV005032151 RCV002216579
NM_000168.6(GLI3):c.4180C>T (p.Arg1394Cys)	SNV Germline	Chr7:41964893	Conflicting classifications of pathogenicity	Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA4230176	rs_577664817	2 SubmittersRCV002115913 RCV003134387
NM_000168.6(GLI3):c.473+1G>A	SNV Germline	Chr7:42076751	Pathogenic	Greig cephalopolysyndactyly syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA367549922	rs_2128751733	2 SubmittersRCV002227906 RCV004719241
NM_000168.6(GLI3):c.2659C>A (p.Gln887Lys)	SNV Germline	Chr7:41966414	Conflicting classifications of pathogenicity	Condition: not provided Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4230552	rs_371857859	3 SubmittersRCV002306142 RCV003775010 RCV005350939
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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4230651	rs_756698197	3 SubmittersRCV002469707 RCV002571433 RCV004973433
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	CA367323866	rs_2128730770	2 SubmittersRCV002471384 RCV003775510
NM_000168.6(GLI3):c.2686G>C (p.Asp896His)	SNV Germline	Chr7:41966387	Likely pathogenic	Greig cephalopolysyndactyly syndrome	Criteria Provided Single Submitter	CA367320561	rs_1462048687	1 SubmittersRCV002470432
NM_000168.6(GLI3):c.293C>T (p.Ala98Val)	SNV Germline	Chr7:42148300	Conflicting classifications of pathogenicity	Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA4231256	rs_763808074	3 SubmittersRCV002574728 RCV002510144 RCV005433835
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	CA156905213	rs_949855345	2 SubmittersRCV003071350 RCV003171048
NM_000168.6(GLI3):c.2000G>A (p.Arg667Gln)	SNV Germline	Chr7:41972440	Conflicting classifications of pathogenicity	Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Condition: not provided Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Polydactyly, postaxial, type A1 Polysyndactyly 4 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4230711	rs_373926115	4 SubmittersRCV003065649 RCV005433311 RCV005034639 RCV004632169
NM_000168.6(GLI3):c.2003C>T (p.Pro668Leu)	SNV Germline	Chr7:41972437	Conflicting classifications of pathogenicity	Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome GLI3-related disorder Polydactyly, postaxial, type A1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4230709	rs_143009880	4 SubmittersRCV003078809 RCV004540542 RCV004823099 RCV005351103
NM_000168.6(GLI3):c.1553T>A (p.Leu518Gln)	SNV Germline	Chr7:41978693	Conflicting classifications of pathogenicity	Inborn genetic diseases Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA4230804	rs_746202667	3 SubmittersRCV004978556 RCV003081670 RCV004707812
NM_000168.6(GLI3):c.2083G>T (p.Val695Phe)	SNV Germline	Chr7:41972357	Conflicting classifications of pathogenicity	Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Polysyndactyly 4 Polydactyly, postaxial, type A1 Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome	Criteria Provided Conflicting Classifications	CA156913583	rs_199606102	2 SubmittersRCV002633469 RCV005045353
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 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA156904732	rs_375291254	3 SubmittersRCV002634027 RCV004529223 RCV005575131
NM_000168.6(GLI3):c.1954C>A (p.Pro652Thr)	SNV Germline	Chr7:41972486	Conflicting classifications of pathogenicity	Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Polysyndactyly 4 Polydactyly, postaxial, type A1 Greig cephalopolysyndactyly syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4230725	rs_552333286	3 SubmittersRCV002603941 RCV005042911 RCV005343440
NM_000168.6(GLI3):c.4392C>A (p.Asp1464Glu)	SNV Germline	Chr7:41964681	Conflicting classifications of pathogenicity	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome GLI3-related disorder Intellectual disability	Criteria Provided Conflicting Classifications	CA367315125	rs_566409623	3 SubmittersRCV002746393 RCV004534188 RCV005626691
NM_000168.6(GLI3):c.2445C>A (p.Asn815Lys)	SNV Germline	Chr7:41966628	Conflicting classifications of pathogenicity	Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4230588	rs_147561570	2 SubmittersRCV002805459 RCV004064733
NM_000168.6(GLI3):c.4186G>C (p.Ala1396Pro)	SNV Germline	Chr7:41964887	Conflicting classifications of pathogenicity	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA367315583	rs_1244511121	2 SubmittersRCV002833102 RCV004973656
NM_000168.6(GLI3):c.368-1G>C	SNV Germline	Chr7:42076858	Likely pathogenic	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome	Criteria Provided Single Submitter	CA367550151	rs_2484805385	1 SubmittersRCV002820371
NM_000168.6(GLI3):c.3147C>A (p.Tyr1049Ter)	SNV Germline	Chr7:41965926	Pathogenic	Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome	Criteria Provided Single Submitter	CA367319061	rs_779898173	1 SubmittersRCV002889144
NM_000168.6(GLI3):c.2382C>A (p.Asn794Lys)	SNV Germline	Chr7:41967645	Conflicting classifications of pathogenicity	Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA367321202	rs_1226324102	2 SubmittersRCV002885546 RCV004973673
NM_000168.6(GLI3):c.474-3C>T	SNV Germline	Chr7:42048699	Conflicting classifications of pathogenicity	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome not specified GLI3-related disorder Polydactyly, postaxial, type A1 Polysyndactyly 4 Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome	Criteria Provided Conflicting Classifications	CA4231167	rs_750653037	4 SubmittersRCV002899680 RCV005433897 RCV004536432 RCV005034452
NM_000168.6(GLI3):c.3569C>T (p.Ala1190Val)	SNV Germline	Chr7:41965504	Conflicting classifications of pathogenicity	Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Polydactyly, postaxial, type A1 Greig cephalopolysyndactyly syndrome Polysyndactyly 4	Criteria Provided Conflicting Classifications	CA4230332	rs_577288886	2 SubmittersRCV002909207 RCV005034471
NM_000168.6(GLI3):c.4354C>T (p.Gln1452Ter)	SNV Germline	Chr7:41964719	Pathogenic	Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome	Criteria Provided Single Submitter	CA367315208	rs_2484364138	1 SubmittersRCV002938784
NM_000168.6(GLI3):c.2329C>T (p.His777Tyr)	SNV Germline	Chr7:41967698	Conflicting classifications of pathogenicity	Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA4230640	rs_201321024	3 SubmittersRCV002922114 RCV002904655 RCV003992687
NM_000168.6(GLI3):c.367+1G>A	SNV Germline	Chr7:42148225	Conflicting classifications of pathogenicity	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome not specified	Criteria Provided Conflicting Classifications	CA367550161	rs_1444623267	2 SubmittersRCV002942550 RCV005433926
NM_000168.6(GLI3):c.368-2A>C	SNV Germline	Chr7:42076859	Likely pathogenic	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome	Criteria Provided Single Submitter	CA367550154	rs_2484805390	1 SubmittersRCV003008916
NM_000168.6(GLI3):c.3286G>A (p.Val1096Met)	SNV Germline	Chr7:41965787	Conflicting classifications of pathogenicity	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Polydactyly, postaxial, type A1 Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Polysyndactyly 4	Criteria Provided Conflicting Classifications	CA4230404	rs_762642157	2 SubmittersRCV002967680 RCV005045126
NM_000168.6(GLI3):c.2501C>G (p.Ser834Cys)	SNV Germline	Chr7:41966572	Conflicting classifications of pathogenicity	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome GLI3-related disorder	Criteria Provided Conflicting Classifications	CA4230578	rs_375261329	2 SubmittersRCV002976094 RCV004536499
NM_000168.6(GLI3):c.1471T>C (p.Phe491Leu)	SNV Germline	Chr7:42023494	Conflicting classifications of pathogenicity	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Polysyndactyly 4 Polydactyly, postaxial, type A1 Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome	Criteria Provided Conflicting Classifications	CA4230836	rs_145184527	2 SubmittersRCV002999362 RCV005034562
NM_000168.6(GLI3):c.2408C>T (p.Ala803Val)	SNV Germline	Chr7:41967619	Conflicting classifications of pathogenicity	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Polysyndactyly 4 Polydactyly, postaxial, type A1 Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome	Criteria Provided Conflicting Classifications	CA4230625	rs_34169786	2 SubmittersRCV003011193 RCV005034568
NM_000168.6(GLI3):c.3035G>T (p.Gly1012Val)	SNV Germline	Chr7:41966038	Conflicting classifications of pathogenicity	Inborn genetic diseases Greig cephalopolysyndactyly syndrome Polydactyly, postaxial, type A1 Pallister-Hall syndrome Polysyndactyly 4	Criteria Provided Conflicting Classifications	CA4230469	rs_760778129	2 SubmittersRCV002743652 RCV005036547
NM_000168.6(GLI3):c.4559C>T (p.Ser1520Leu)	SNV Germline	Chr7:41964514	Conflicting classifications of pathogenicity	Inborn genetic diseases GLI3-related disorder Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome	Criteria Provided Conflicting Classifications	CA367314757	rs_1404556956	3 SubmittersRCV002758418 RCV004529231 RCV005227834
NM_000168.6(GLI3):c.2163C>T (p.Ser721=)	SNV Germline	Chr7:41967864	Conflicting classifications of pathogenicity	Condition: not provided Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome	Criteria Provided Conflicting Classifications	CA454525124	rs_1398108964	2 SubmittersRCV003129017 RCV003778684
NM_000168.6(GLI3):c.2587C>T (p.Arg863Cys)	SNV Germline	Chr7:41966486	Conflicting classifications of pathogenicity	Condition: not provided Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome	Criteria Provided Conflicting Classifications	CA367320767	rs_1328292775	2 SubmittersRCV003228419 RCV005227945
NM_000168.6(GLI3):c.2407G>C (p.Ala803Pro)	SNV Germline	Chr7:41967620	Conflicting classifications of pathogenicity	Greig cephalopolysyndactyly syndrome Polysyndactyly 4 Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Polydactyly, postaxial, type A1 Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome	Criteria Provided Conflicting Classifications	CA4230626	rs_779956431	3 SubmittersRCV003455900 RCV005047590 RCV005220717
NM_000168.6(GLI3):c.2957G>A (p.Gly986Asp)	SNV Germline	Chr7:41966116	Conflicting classifications of pathogenicity	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA156904960	rs_909796647	2 SubmittersRCV003783016 RCV004374383
NM_000168.6(GLI3):c.1949C>T (p.Pro650Leu)	SNV Germline	Chr7:41972491	Conflicting classifications of pathogenicity	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Polydactyly, postaxial, type A1 Greig cephalopolysyndactyly syndrome Polysyndactyly 4 Pallister-Hall syndrome	Criteria Provided Conflicting Classifications	CA4230727	rs_751886644	2 SubmittersRCV003790104 RCV005040513
NM_000168.6(GLI3):c.4574C>T (p.Pro1525Leu)	SNV Germline	Chr7:41964499	Conflicting classifications of pathogenicity	Pallister-Hall syndrome Polysyndactyly 4 Polydactyly, postaxial, type A1 Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome	Criteria Provided Conflicting Classifications	CA4230101	rs_754037065	2 SubmittersRCV005040500 RCV003780269
NM_000168.6(GLI3):c.1345C>T (p.Arg449Trp)	SNV Germline	Chr7:42025275	Conflicting classifications of pathogenicity	Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Polydactyly, postaxial, type A1 Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Polysyndactyly 4	Criteria Provided Conflicting Classifications	CA4230886	rs_769783770	2 SubmittersRCV003789318 RCV005038510
NM_000168.6(GLI3):c.463C>T (p.Pro155Ser)	SNV Germline	Chr7:42076762	Conflicting classifications of pathogenicity	Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Polydactyly, postaxial, type A1 Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Polysyndactyly 4	Criteria Provided Conflicting Classifications	CA157219006	rs_868656005	2 SubmittersRCV003789434 RCV005040509
NM_000168.6(GLI3):c.1626C>T (p.Gly542=)	SNV Germline	Chr7:41978620	Conflicting classifications of pathogenicity	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Polydactyly, postaxial, type A1 Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Polysyndactyly 4	Criteria Provided Conflicting Classifications	CA4230797	rs_779553362	2 SubmittersRCV003796308 RCV005038513
NM_000168.6(GLI3):c.3305C>A (p.Ser1102Tyr)	SNV Germline	Chr7:41965768	Conflicting classifications of pathogenicity	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Polydactyly, postaxial, type A1 Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Polysyndactyly 4	Criteria Provided Conflicting Classifications	CA4230400	rs_781124240	2 SubmittersRCV003796323 RCV005038514
NM_000168.6(GLI3):c.4331A>G (p.Tyr1444Cys)	SNV Germline	Chr7:41964742	Conflicting classifications of pathogenicity	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome Polysyndactyly 4 Polydactyly, postaxial, type A1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4230150	rs_747590659	3 SubmittersRCV003794188 RCV005038516 RCV005353286
NM_000168.6(GLI3):c.538C>T (p.Arg180Trp)	SNV Germline	Chr7:42048632	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	CA4231150	rs_772526084	2 SubmittersRCV003794318 RCV005038517
NM_000168.6(GLI3):c.2961C>G (p.Tyr987Ter)	SNV Germline	Chr7:41966112	Pathogenic	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome	Criteria Provided Single Submitter	CA367319719	rs_528703005	1 SubmittersRCV003806113
NM_000168.6(GLI3):c.4564G>C (p.Ala1522Pro)	SNV Germline	Chr7:41964509	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	CA4230105	rs_758379697	2 SubmittersRCV003799391 RCV005038518
NM_000168.6(GLI3):c.3442C>T (p.Gln1148Ter)	SNV Germline	Chr7:41965631	Pathogenic	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome	Criteria Provided Single Submitter	CA367318031	rs_2484372572	1 SubmittersRCV003803344
NM_000168.6(GLI3):c.4081G>T (p.Glu1361Ter)	SNV Germline	Chr7:41964992	Pathogenic	Greig cephalopolysyndactyly syndrome Pallister-Hall syndrome	Criteria Provided Single Submitter	CA367315806	rs_2484366559	1 SubmittersRCV003813149
NM_000168.6(GLI3):c.1468G>T (p.Glu490Ter)	SNV Germline	Chr7:42023497	Pathogenic	Greig cephalopolysyndactyly syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004598368
NM_000168.6(GLI3):c.905A>G (p.His302Arg)	SNV Germline	Chr7:42040161	Conflicting classifications of pathogenicity	Inborn genetic diseases Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV004629706 RCV005220975
NM_000168.6(GLI3):c.2128C>T (p.Gln710Ter)	SNV Germline	Chr7:41967899	Pathogenic	Pallister-Hall syndrome Polysyndactyly 4 Greig cephalopolysyndactyly syndrome Polydactyly, postaxial, type A1	Criteria Provided Single Submitter			1 SubmittersRCV004795548
NM_000168.6(GLI3):c.4145G>T (p.Gly1382Val)	SNV Germline	Chr7:41964928	Conflicting classifications of pathogenicity	Pallister-Hall syndrome Polysyndactyly 4 Greig cephalopolysyndactyly syndrome Polydactyly, postaxial, type A1 Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV005033786 RCV005218414
NM_000168.6(GLI3):c.2056C>T (p.Arg686Trp)	SNV Germline	Chr7:41972384	Conflicting classifications of pathogenicity	Pallister-Hall syndrome Polysyndactyly 4 Greig cephalopolysyndactyly syndrome Polydactyly, postaxial, type A1 Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV005033824 RCV005223183
NM_000168.6(GLI3):c.1822G>A (p.Val608Met)	SNV Germline	Chr7:41972618	Conflicting classifications of pathogenicity	Pallister-Hall syndrome Polysyndactyly 4 Greig cephalopolysyndactyly syndrome Polydactyly, postaxial, type A1 Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV005033827 RCV005218415
NM_000168.6(GLI3):c.308C>T (p.Pro103Leu)	SNV Germline	Chr7:42148285	Conflicting classifications of pathogenicity	Pallister-Hall syndrome Polysyndactyly 4 Greig cephalopolysyndactyly syndrome Polydactyly, postaxial, type A1 Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV005047971 RCV005218416
NM_000168.6(GLI3):c.2104-14C>G	SNV Germline	Chr7:41967937	Pathogenic	Pallister-Hall syndrome Greig cephalopolysyndactyly syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005223889
NM_000168.6(GLI3):c.1497+1G>C	SNV Unknown	Chr7:42023467	Pathogenic	Greig cephalopolysyndactyly syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005623244

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA123498

rs_121917713

3 SubmittersRCV000014838 RCV000014837 RCV000554724

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

SNV
Germline

Chr7:41967653

Pathogenic

Condition: not provided
Greig cephalopolysyndactyly syndrome
Polydactyly, postaxial, type A1
Polydactyly, postaxial, type A1
Greig cephalopolysyndactyly syndrome
Polysyndactyly 4
Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
GLI3-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA256983

rs_121917714

12 SubmittersRCV000489344 RCV000014840 RCV001450016 RCV005031437 RCV001047666 RCV004732544

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

Criteria Provided
Conflicting Classifications

CA256987

rs_121917716

8 SubmittersRCV000014843 RCV000508658 RCV000500441 RCV000542657 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.3695A>C (p.His1232Pro)

SNV
Germline

Chr7:41965378

Conflicting classifications of pathogenicity

not specified
Polysyndactyly 4
Polydactyly, postaxial, type A1
Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome

Criteria Provided
Conflicting Classifications

CA205797

rs_780924905

2 SubmittersRCV000192754 RCV005042412

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

SNV
Germline

Chr7:42026234

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA207359

rs_201070431

4 SubmittersRCV000365900 RCV000193696 RCV000268836 RCV000326204 RCV002517076 RCV002517940

NM_000168.6(GLI3):c.743G>A (p.Arg248His)

SNV
Germline

Chr7:42045467

Conflicting classifications of pathogenicity

not specified
Polydactyly, postaxial, type A1
Polysyndactyly 4
Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome

Criteria Provided
Conflicting Classifications

CA4231078

rs_186337909

3 SubmittersRCV000253528 RCV005044503 RCV005222852

NM_000168.6(GLI3):c.3118G>A (p.Glu1040Lys)

SNV
Germline

Chr7:41965955

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4230443

rs_772839719

4 SubmittersRCV000255158 RCV000387520 RCV000329014 RCV000273966 RCV000764715 RCV005222858

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

SNV
Germline

Chr7:42148352

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4231269

rs_376725882

5 SubmittersRCV000255549 RCV000764716 RCV001158783 RCV001158784 RCV001158785 RCV004021025 RCV003765568

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

SNV
Germline

Chr7:41967827

Conflicting classifications of pathogenicity

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

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

Criteria Provided
Conflicting Classifications

CA4230224

rs_199875457

9 SubmittersRCV000307954 RCV000267903 RCV000354909 RCV000362619 RCV001083375 RCV004535293

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

SNV
Germline

Chr7:41965244

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4230250

rs_146582871

5 SubmittersRCV000269527 RCV000725297 RCV001085856 RCV002518885

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

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.3119A>T (p.Glu1040Val)

SNV
Germline

Chr7:41965954

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4230442

rs_376477553

4 SubmittersRCV001162752 RCV001162753 RCV001162754 RCV000359414 RCV004975397 RCV005431597

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
Pallister-Hall syndrome
Greig cephalopolysyndactyly 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.3631G>A (p.Gly1211Arg)

SNV
Germline

Chr7:41965442

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4230310

rs_757059523

4 SubmittersRCV000305075 RCV000344954 RCV000406991 RCV001034036 RCV004760483

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

SNV
Germline

Chr7:42023503

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4230840

rs_756581886

4 SubmittersRCV000297459 RCV000340635 RCV001204137 RCV000399556 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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4231077

rs_202039538

4 SubmittersRCV000295892 RCV000329883 RCV000386462 RCV001770283 RCV003105883 RCV004629204

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.2960A>G (p.Tyr987Cys)

SNV
Germline

Chr7:41966113

Conflicting classifications of pathogenicity

Greig cephalopolysyndactyly syndrome
Polydactyly
Pallister-Hall syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4230492

rs_777313061

2 SubmittersRCV000271369 RCV000326387 RCV000362411 RCV004984849

NM_000168.6(GLI3):c.367C>T (p.His123Tyr)

SNV
Germline

Chr7:42148226

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4231236

rs_199909375

2 SubmittersRCV000300541 RCV000335666 RCV000390009 RCV005033907

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

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

Criteria Provided
Conflicting Classifications

CA4230251

rs_756156901

3 SubmittersRCV000534571 RCV002497080 RCV005348147

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

SNV
Germline

Chr7:41966533

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4230573

rs_143406263

5 SubmittersRCV000598483 RCV002491173 RCV002530989

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

Greig cephalopolysyndactyly syndrome
Pallister-Hall 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

Greig cephalopolysyndactyly syndrome
Pallister-Hall 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

Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome

Criteria Provided
Single Submitter

CA367314894

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
GLI3-related disorder

Criteria Provided
Conflicting Classifications

CA4230348

rs_143942705

3 SubmittersRCV000703711 RCV002536373 RCV004733010

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

SNV
Germline

Chr7:42023514

Pathogenic

Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome

Criteria Provided
Single Submitter

CA367323907

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
Polysyndactyly 4
Greig cephalopolysyndactyly syndrome
Polydactyly, postaxial, type A1
Pallister-Hall syndrome
not specified

Criteria Provided
Conflicting Classifications

CA4231123

rs_747805984

4 SubmittersRCV000692750 RCV004527745 RCV005034302 RCV005436014

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

SNV
Germline

Chr7:41967853

Conflicting classifications of pathogenicity

Condition: not provided
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

CA4230670

rs_749807129

4 SubmittersRCV000731752 RCV001044472 RCV002485899 RCV005572374

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

CA4230275

rs_758155716

2 SubmittersRCV000731850 RCV003768216

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

SNV
Germline

Chr7:41978624

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA367325470

rs_1562667078

4 SubmittersRCV000855672 RCV001204667 RCV001266774 RCV002067220

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

SNV
Germline

Chr7:42025274

Conflicting classifications of pathogenicity

Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome
GLI3-related disorder

Criteria Provided
Conflicting Classifications

CA4230885

rs_745809543

3 SubmittersRCV000804320 RCV004733048

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

SNV
Germline

Chr7:42026345

Pathogenic

Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA367326938

rs_1583805203

4 SubmittersRCV000822914 RCV001579780

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

SNV
Germline

Chr7:42045429

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4231066

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

CA367331097

rs_1583505882

1 SubmittersRCV000799089

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

SNV
Germline

Chr7:42048631

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4231149

rs_140772904

4 SubmittersRCV000797078 RCV002495052 RCV001849447 RCV004538093

NM_000168.6(GLI3):c.1222G>A (p.Gly408Ser)

SNV
Germline

Chr7:42026219

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4230928

rs_200411081

4 SubmittersRCV001500958 RCV004030050 RCV004705990

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

SNV
Germline

Chr7:42040035

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4230995

rs_368499795

3 SubmittersRCV001819688 RCV001506252 RCV004536004

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

SNV
Unknown

Chr7:41964997

Likely pathogenic

Greig cephalopolysyndactyly syndrome

Criteria Provided
Single Submitter

CA367315815

rs_1583728402

1 SubmittersRCV000987864

NM_000168.6(GLI3):c.2981C>G (p.Pro994Arg)

SNV
Germline

Chr7:41966092

Conflicting classifications of pathogenicity

Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4230484

rs_772285708

2 SubmittersRCV001034167 RCV005348262

NM_000168.6(GLI3):c.4709C>T (p.Ala1570Val)

SNV
Germline

Chr7:41964364

Conflicting classifications of pathogenicity

Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
not specified
Greig cephalopolysyndactyly syndrome
Polydactyly, postaxial, type A1
Polysyndactyly 4
Pallister-Hall syndrome

Criteria Provided
Conflicting Classifications

CA4230068

rs_41305933

3 SubmittersRCV001055857 RCV005436973 RCV002482006

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

SNV
Germline

Chr7:41964565

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA367314871

rs_1359183911

2 SubmittersRCV001051098 RCV002497400

NM_000168.6(GLI3):c.4382C>T (p.Ser1461Phe)

SNV
Germline

Chr7:41964691

Conflicting classifications of pathogenicity

Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4230141

rs_149543947

2 SubmittersRCV001047574 RCV005001138

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

Criteria Provided
Conflicting Classifications

CA367316246

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

Criteria Provided
Conflicting Classifications

CA4230561

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

CA367551149

rs_1788520333

1 SubmittersRCV001071422

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

SNV
Germline

Chr7:42023467

Pathogenic/Likely pathogenic

Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA367323668

rs_1399654830

5 SubmittersRCV001041488 RCV001093384

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

SNV
Germline

Chr7:42076747

Conflicting classifications of pathogenicity

Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome
Polysyndactyly 4

Criteria Provided
Conflicting Classifications

CA916082925

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

CA156898742

rs_568690074

2 SubmittersRCV001160437 RCV001160438 RCV003433060

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

SNV
Germline

Chr7:41964082

Conflicting classifications of pathogenicity

Condition: not provided
Polydactyly
Greig cephalopolysyndactyly syndrome

Criteria Provided
Conflicting Classifications

CA156900966

rs_61091998

2 SubmittersRCV001673021 RCV001160839 RCV001160840

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

SNV
Germline

Chr7:41965451

Conflicting classifications of pathogenicity

Pallister-Hall syndrome
Polydactyly
Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4230317

rs_369440387

3 SubmittersRCV001159798 RCV001159797 RCV001159799 RCV005213476 RCV002557365

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

SNV
Germline

Chr7:41972436

Conflicting classifications of pathogenicity

Greig cephalopolysyndactyly syndrome
Polydactyly
Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome

Criteria Provided
Conflicting Classifications

CA156913752

rs_867192725

2 SubmittersRCV001162976 RCV001162977 RCV002067981

NM_000168.6(GLI3):c.1057G>A (p.Ala353Thr)

SNV
Germline

Chr7:42026384

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4230958

rs_375277249

2 SubmittersRCV001161662 RCV002505740 RCV001161661

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

Criteria Provided
Conflicting Classifications

CA4231069

rs_565817241

5 SubmittersRCV001161775 RCV001161776 RCV003769777 RCV005036433

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

SNV
Germline

Chr7:41965482

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA367317718

rs_1374541235

2 SubmittersRCV001216988 RCV002497740

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

SNV
Germline

Chr7:42048512

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4231124

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

CA367322702

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

Criteria Provided
Conflicting Classifications

CA4230322

rs_543636524

3 SubmittersRCV001344236 RCV003263980 RCV002493764

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

SNV
Germline

Chr7:42040241

Likely pathogenic

Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome

Criteria Provided
Single Submitter

CA367329832

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

CA4230712

rs_781422192

4 SubmittersRCV001450018 RCV002246386 RCV002265029 RCV003264039

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

SNV
Germline

Chr7:42048520

Pathogenic

Polydactyly, postaxial, type A1
Greig cephalopolysyndactyly syndrome

Criteria Provided
Single Submitter

CA367332903

rs_2128742651

1 SubmittersRCV001450023

NM_000168.6(GLI3):c.3893C>T (p.Pro1298Leu)

SNV
Germline

Chr7:41965180

Conflicting classifications of pathogenicity

Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4230233

rs_182571462

2 SubmittersRCV001513199 RCV005572617

NM_000168.6(GLI3):c.2735G>A (p.Ser912Asn)

SNV
Germline

Chr7:41966338

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4230537

rs_757735624

3 SubmittersRCV001567363 RCV002569037 RCV004631724

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

SNV
Germline

Chr7:42148360

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4231273

rs_777937822

3 SubmittersRCV001843896 RCV003120719 RCV002482387

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

SNV
Germline

Chr7:42148348

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4231268

rs_754143860

4 SubmittersRCV001843897 RCV002077329 RCV002291774 RCV005040407

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

SNV
Germline

Chr7:41965311

Pathogenic

Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome

Criteria Provided
Single Submitter

CA367317093

rs_148043302

1 SubmittersRCV001924251

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

SNV
Germline

Chr7:41964646

Conflicting classifications of pathogenicity

Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome
Polysyndactyly 4
Pallister-Hall syndrome
Polydactyly, postaxial, type A1
Greig cephalopolysyndactyly syndrome
GLI3-related disorder
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4230133

rs_138100963

5 SubmittersRCV001979971 RCV002479559 RCV004538670 RCV004728983 RCV004975982

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

SNV
Germline

Chr7:41972575

Likely pathogenic

Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome

Criteria Provided
Single Submitter

CA367322689

rs_2128710024

1 SubmittersRCV001888445

NM_000168.6(GLI3):c.1253C>T (p.Thr418Met)

SNV
Germline

Chr7:42025367

Conflicting classifications of pathogenicity

Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4230900

rs_757359712

2 SubmittersRCV001984879 RCV002562076

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

SNV
Germline

Chr7:41965516

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4230336

rs_541487979

3 SubmittersRCV002002336 RCV002484774 RCV003426264

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

SNV
Germline

Chr7:42026282

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4230941

rs_370794111

3 SubmittersRCV001919722 RCV003247115 RCV005042474

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

SNV
Germline

Chr7:41964781

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4230158

rs_144128064

3 SubmittersRCV001906603 RCV002478339 RCV002253991

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

SNV
Germline

Chr7:41965174

Conflicting classifications of pathogenicity

Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4230230

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

CA367321103

rs_2128706417

1 SubmittersRCV001935371

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

SNV
Germline

Chr7:41964566

Pathogenic

Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome

Criteria Provided
Single Submitter

CA367314874

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

Criteria Provided
Conflicting Classifications

CA367321361

rs_1355649064

4 SubmittersRCV002166102 RCV004770412 RCV004526913 RCV005032169

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

CA4231195

rs_768622457

2 SubmittersRCV002106153 RCV003053421

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

SNV
Germline

Chr7:42048557

Conflicting classifications of pathogenicity

Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4231133

rs_767832980

2 SubmittersRCV002199035 RCV003161677

NM_000168.6(GLI3):c.1325A>G (p.Asp442Gly)

SNV
Germline

Chr7:42025295

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4230888

rs_749073077

2 SubmittersRCV005032151 RCV002216579

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

SNV
Germline

Chr7:41964893

Conflicting classifications of pathogenicity

Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4230176

rs_577664817

2 SubmittersRCV002115913 RCV003134387

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

SNV
Germline

Chr7:42076751

Pathogenic

Greig cephalopolysyndactyly syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA367549922

rs_2128751733

2 SubmittersRCV002227906 RCV004719241

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

SNV
Germline

Chr7:41966414

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4230552

rs_371857859

3 SubmittersRCV002306142 RCV003775010 RCV005350939

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4230651

rs_756698197

3 SubmittersRCV002469707 RCV002571433 RCV004973433

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

CA367323866

rs_2128730770

2 SubmittersRCV002471384 RCV003775510

NM_000168.6(GLI3):c.2686G>C (p.Asp896His)

SNV
Germline

Chr7:41966387

Likely pathogenic

Greig cephalopolysyndactyly syndrome

Criteria Provided
Single Submitter

CA367320561

rs_1462048687

1 SubmittersRCV002470432

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

SNV
Germline

Chr7:42148300

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4231256

rs_763808074

3 SubmittersRCV002574728 RCV002510144 RCV005433835

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

CA156905213

rs_949855345

2 SubmittersRCV003071350 RCV003171048

NM_000168.6(GLI3):c.2000G>A (p.Arg667Gln)

SNV
Germline

Chr7:41972440

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4230711

rs_373926115

4 SubmittersRCV003065649 RCV005433311 RCV005034639 RCV004632169

NM_000168.6(GLI3):c.2003C>T (p.Pro668Leu)

SNV
Germline

Chr7:41972437

Conflicting classifications of pathogenicity

Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome
GLI3-related disorder
Polydactyly, postaxial, type A1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4230709

rs_143009880

4 SubmittersRCV003078809 RCV004540542 RCV004823099 RCV005351103

NM_000168.6(GLI3):c.1553T>A (p.Leu518Gln)

SNV
Germline

Chr7:41978693

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4230804

rs_746202667

3 SubmittersRCV004978556 RCV003081670 RCV004707812

NM_000168.6(GLI3):c.2083G>T (p.Val695Phe)

SNV
Germline

Chr7:41972357

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA156913583

rs_199606102

2 SubmittersRCV002633469 RCV005045353

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
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA156904732

rs_375291254

3 SubmittersRCV002634027 RCV004529223 RCV005575131

NM_000168.6(GLI3):c.1954C>A (p.Pro652Thr)

SNV
Germline

Chr7:41972486

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4230725

rs_552333286

3 SubmittersRCV002603941 RCV005042911 RCV005343440

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

SNV
Germline

Chr7:41964681

Conflicting classifications of pathogenicity

Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
GLI3-related disorder
Intellectual disability

Criteria Provided
Conflicting Classifications

CA367315125

rs_566409623

3 SubmittersRCV002746393 RCV004534188 RCV005626691

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

SNV
Germline

Chr7:41966628

Conflicting classifications of pathogenicity

Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4230588

rs_147561570

2 SubmittersRCV002805459 RCV004064733

NM_000168.6(GLI3):c.4186G>C (p.Ala1396Pro)

SNV
Germline

Chr7:41964887

Conflicting classifications of pathogenicity

Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA367315583

rs_1244511121

2 SubmittersRCV002833102 RCV004973656

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

SNV
Germline

Chr7:42076858

Likely pathogenic

Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome

Criteria Provided
Single Submitter

CA367550151

rs_2484805385

1 SubmittersRCV002820371

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

SNV
Germline

Chr7:41965926

Pathogenic

Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome

Criteria Provided
Single Submitter

CA367319061

rs_779898173

1 SubmittersRCV002889144

NM_000168.6(GLI3):c.2382C>A (p.Asn794Lys)

SNV
Germline

Chr7:41967645

Conflicting classifications of pathogenicity

Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA367321202

rs_1226324102

2 SubmittersRCV002885546 RCV004973673

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

SNV
Germline

Chr7:42048699

Conflicting classifications of pathogenicity

Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
not specified
GLI3-related disorder
Polydactyly, postaxial, type A1
Polysyndactyly 4
Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome

Criteria Provided
Conflicting Classifications

CA4231167

rs_750653037

4 SubmittersRCV002899680 RCV005433897 RCV004536432 RCV005034452

NM_000168.6(GLI3):c.3569C>T (p.Ala1190Val)

SNV
Germline

Chr7:41965504

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4230332

rs_577288886

2 SubmittersRCV002909207 RCV005034471

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

SNV
Germline

Chr7:41964719

Pathogenic

Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome

Criteria Provided
Single Submitter

CA367315208

rs_2484364138

1 SubmittersRCV002938784

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

SNV
Germline

Chr7:41967698

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4230640

rs_201321024

3 SubmittersRCV002922114 RCV002904655 RCV003992687

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

SNV
Germline

Chr7:42148225

Conflicting classifications of pathogenicity

Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
not specified

Criteria Provided
Conflicting Classifications

CA367550161

rs_1444623267

2 SubmittersRCV002942550 RCV005433926

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

SNV
Germline

Chr7:42076859

Likely pathogenic

Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome

Criteria Provided
Single Submitter

CA367550154

rs_2484805390

1 SubmittersRCV003008916

NM_000168.6(GLI3):c.3286G>A (p.Val1096Met)

SNV
Germline

Chr7:41965787

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4230404

rs_762642157

2 SubmittersRCV002967680 RCV005045126

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

SNV
Germline

Chr7:41966572

Conflicting classifications of pathogenicity

Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
GLI3-related disorder

Criteria Provided
Conflicting Classifications

CA4230578

rs_375261329

2 SubmittersRCV002976094 RCV004536499

NM_000168.6(GLI3):c.1471T>C (p.Phe491Leu)

SNV
Germline

Chr7:42023494

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4230836

rs_145184527

2 SubmittersRCV002999362 RCV005034562

NM_000168.6(GLI3):c.2408C>T (p.Ala803Val)

SNV
Germline

Chr7:41967619

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4230625

rs_34169786

2 SubmittersRCV003011193 RCV005034568

NM_000168.6(GLI3):c.3035G>T (p.Gly1012Val)

SNV
Germline

Chr7:41966038

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4230469

rs_760778129

2 SubmittersRCV002743652 RCV005036547

NM_000168.6(GLI3):c.4559C>T (p.Ser1520Leu)

SNV
Germline

Chr7:41964514

Conflicting classifications of pathogenicity

Inborn genetic diseases
GLI3-related disorder
Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome

Criteria Provided
Conflicting Classifications

CA367314757

rs_1404556956

3 SubmittersRCV002758418 RCV004529231 RCV005227834

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

SNV
Germline

Chr7:41967864

Conflicting classifications of pathogenicity

Condition: not provided
Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome

Criteria Provided
Conflicting Classifications

CA454525124

rs_1398108964

2 SubmittersRCV003129017 RCV003778684

NM_000168.6(GLI3):c.2587C>T (p.Arg863Cys)

SNV
Germline

Chr7:41966486

Conflicting classifications of pathogenicity

Condition: not provided
Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome

Criteria Provided
Conflicting Classifications

CA367320767

rs_1328292775

2 SubmittersRCV003228419 RCV005227945

NM_000168.6(GLI3):c.2407G>C (p.Ala803Pro)

SNV
Germline

Chr7:41967620

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4230626

rs_779956431

3 SubmittersRCV003455900 RCV005047590 RCV005220717

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

SNV
Germline

Chr7:41966116

Conflicting classifications of pathogenicity

Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA156904960

rs_909796647

2 SubmittersRCV003783016 RCV004374383

NM_000168.6(GLI3):c.1949C>T (p.Pro650Leu)

SNV
Germline

Chr7:41972491

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4230727

rs_751886644

2 SubmittersRCV003790104 RCV005040513

NM_000168.6(GLI3):c.4574C>T (p.Pro1525Leu)

SNV
Germline

Chr7:41964499

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4230101

rs_754037065

2 SubmittersRCV005040500 RCV003780269

NM_000168.6(GLI3):c.1345C>T (p.Arg449Trp)

SNV
Germline

Chr7:42025275

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4230886

rs_769783770

2 SubmittersRCV003789318 RCV005038510

NM_000168.6(GLI3):c.463C>T (p.Pro155Ser)

SNV
Germline

Chr7:42076762

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA157219006

rs_868656005

2 SubmittersRCV003789434 RCV005040509

NM_000168.6(GLI3):c.1626C>T (p.Gly542=)

SNV
Germline

Chr7:41978620

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4230797

rs_779553362

2 SubmittersRCV003796308 RCV005038513

NM_000168.6(GLI3):c.3305C>A (p.Ser1102Tyr)

SNV
Germline

Chr7:41965768

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4230400

rs_781124240

2 SubmittersRCV003796323 RCV005038514

NM_000168.6(GLI3):c.4331A>G (p.Tyr1444Cys)

SNV
Germline

Chr7:41964742

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA4230150

rs_747590659

3 SubmittersRCV003794188 RCV005038516 RCV005353286

NM_000168.6(GLI3):c.538C>T (p.Arg180Trp)

SNV
Germline

Chr7:42048632

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

CA4231150

rs_772526084

2 SubmittersRCV003794318 RCV005038517

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

SNV
Germline

Chr7:41966112

Pathogenic

Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome

Criteria Provided
Single Submitter

CA367319719

rs_528703005

1 SubmittersRCV003806113

NM_000168.6(GLI3):c.4564G>C (p.Ala1522Pro)

SNV
Germline

Chr7:41964509

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

CA4230105

rs_758379697

2 SubmittersRCV003799391 RCV005038518

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

SNV
Germline

Chr7:41965631

Pathogenic

Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome

Criteria Provided
Single Submitter

CA367318031

rs_2484372572

1 SubmittersRCV003803344

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

SNV
Germline

Chr7:41964992

Pathogenic

Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome

Criteria Provided
Single Submitter

CA367315806

rs_2484366559

1 SubmittersRCV003813149

NM_000168.6(GLI3):c.1468G>T (p.Glu490Ter)

SNV
Germline

Chr7:42023497

Pathogenic

Greig cephalopolysyndactyly syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004598368

NM_000168.6(GLI3):c.905A>G (p.His302Arg)

SNV
Germline

Chr7:42040161

Conflicting classifications of pathogenicity

Inborn genetic diseases
Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004629706 RCV005220975

NM_000168.6(GLI3):c.2128C>T (p.Gln710Ter)

SNV
Germline

Chr7:41967899

Pathogenic

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

Criteria Provided
Single Submitter

1 SubmittersRCV004795548

NM_000168.6(GLI3):c.4145G>T (p.Gly1382Val)

SNV
Germline

Chr7:41964928

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005033786 RCV005218414

NM_000168.6(GLI3):c.2056C>T (p.Arg686Trp)

SNV
Germline

Chr7:41972384

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005033824 RCV005223183

NM_000168.6(GLI3):c.1822G>A (p.Val608Met)

SNV
Germline

Chr7:41972618

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005033827 RCV005218415

NM_000168.6(GLI3):c.308C>T (p.Pro103Leu)

SNV
Germline

Chr7:42148285

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005047971 RCV005218416

NM_000168.6(GLI3):c.2104-14C>G

SNV
Germline

Chr7:41967937

Pathogenic

Pallister-Hall syndrome
Greig cephalopolysyndactyly syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005223889

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

SNV
Unknown

Chr7:42023467

Pathogenic

Greig cephalopolysyndactyly syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005623244