ClinVar for MedGen (Select 120514) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24290891.	NM_000168.6(GLI3):c.3386_3387del (p.Asp1128_Phe1129insTer) GRCh37: Chr7:42005284-42005285 GRCh38: Chr7:41965686-41965687	GLI3		Pallister-Hall syndrome	Pathogenic (Oct 31, 2022)	criteria provided, single submitter
Select item 24283372.	NM_000168.6(GLI3):c.1317C>T (p.Pro439=) GRCh37: Chr7:42064902 GRCh38: Chr7:42025303	GLI3		Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome	Benign (Jun 19, 2022)	criteria provided, single submitter
Select item 24279913.	NM_000168.6(GLI3):c.2772C>G (p.Ala924=) GRCh37: Chr7:42005899 GRCh38: Chr7:41966301	GLI3		Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Benign (Oct 17, 2022)	criteria provided, single submitter
Select item 24225094.	NC_000007.13:g.(?_42000470)_(42005117_?)del GRCh37: Chr7:42000470-42005117	GLI3		Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Pathogenic (Feb 14, 2022)	criteria provided, single submitter
Select item 24225085.	NC_000007.13:g.(?_42017137)_(42079858_?)dup GRCh37: Chr7:42017137-42079858	GLI3		Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Likely pathogenic (Mar 14, 2022)	criteria provided, single submitter
Select item 24225076.	NC_000007.13:g.(?_42116331)_(42116476_?)dup GRCh37: Chr7:42116331-42116476	GLI3		Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Likely pathogenic (Mar 14, 2022)	criteria provided, single submitter
Select item 24225067.	NC_000007.13:g.(?_42262709)_(42262852_?)dup GRCh37: Chr7:42262709-42262852	GLI3		Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Uncertain significance (Jan 27, 2022)	criteria provided, single submitter
Select item 24225058.	NC_000007.13:g.(?_42088070)_(42088315_?)del GRCh37: Chr7:42088070-42088315	GLI3		Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Pathogenic (Mar 18, 2022)	criteria provided, single submitter
Select item 24146009.	NM_000168.6(GLI3):c.4267A>T (p.Met1423Leu) GRCh37: Chr7:42004404 GRCh38: Chr7:41964806	GLI3	M1423L	Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Uncertain significance (Feb 11, 2022)	criteria provided, single submitter
Select item 241439110.	NM_000168.6(GLI3):c.1463C>T (p.Ala488Val) GRCh37: Chr7:42063101 GRCh38: Chr7:42023502	GLI3	A488V	Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Likely benign (Mar 24, 2022)	criteria provided, single submitter
Select item 219992911.	NM_000168.6(GLI3):c.4610G>C (p.Arg1537Pro) GRCh37: Chr7:42004061 GRCh38: Chr7:41964463	GLI3	R1537P	Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome	Uncertain significance (Apr 23, 2022)	criteria provided, single submitter
Select item 219897912.	NM_000168.6(GLI3):c.3092A>G (p.Asn1031Ser) GRCh37: Chr7:42005579 GRCh38: Chr7:41965981	GLI3	N1031S	Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 219849313.	NM_000168.6(GLI3):c.3611C>T (p.Pro1204Leu) GRCh37: Chr7:42005060 GRCh38: Chr7:41965462	GLI3	P1204L	Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome	Benign (Aug 23, 2022)	criteria provided, single submitter
Select item 219675214.	NM_000168.6(GLI3):c.1128C>G (p.His376Gln) GRCh37: Chr7:42065912 GRCh38: Chr7:42026313	GLI3	H376Q	Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Uncertain significance (Sep 17, 2022)	criteria provided, single submitter
Select item 219617615.	NM_000168.6(GLI3):c.2083G>T (p.Val695Phe) GRCh37: Chr7:42011956 GRCh38: Chr7:41972357	GLI3	V695F	Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Likely benign (May 20, 2022)	criteria provided, single submitter
Select item 219579116.	NM_000168.6(GLI3):c.135T>A (p.Ser45Arg) GRCh37: Chr7:42188057 GRCh38: Chr7:42148458	GLI3	S45R	Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Likely benign (Mar 22, 2022)	criteria provided, single submitter
Select item 219526917.	NM_000168.6(GLI3):c.827-15T>C GRCh37: Chr7:42079853 GRCh38: Chr7:42040254	GLI3		Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Likely benign (Apr 6, 2022)	criteria provided, single submitter
Select item 219054418.	NM_000168.6(GLI3):c.4567C>G (p.Leu1523Val) GRCh37: Chr7:42004104 GRCh38: Chr7:41964506	GLI3	L1523V	Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Uncertain significance (Sep 30, 2022)	criteria provided, single submitter
Select item 218968419.	NM_000168.6(GLI3):c.614G>A (p.Arg205His) GRCh37: Chr7:42088155 GRCh38: Chr7:42048556	GLI3	R205H	Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 218452820.	NM_000168.6(GLI3):c.1973G>T (p.Ser658Ile) GRCh37: Chr7:42012066 GRCh38: Chr7:41972467	GLI3	S658I	Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 218261821.	NM_000168.6(GLI3):c.4234A>G (p.Thr1412Ala) GRCh37: Chr7:42004437 GRCh38: Chr7:41964839	GLI3	T1412A	Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Likely benign (Mar 23, 2022)	criteria provided, single submitter
Select item 217879222.	NM_000168.6(GLI3):c.2803G>A (p.Ala935Thr) GRCh37: Chr7:42005868 GRCh38: Chr7:41966270	GLI3	A935T	Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Benign (May 17, 2022)	criteria provided, single submitter
Select item 217713723.	NM_000168.6(GLI3):c.3003C>T (p.Gly1001=) GRCh37: Chr7:42005668 GRCh38: Chr7:41966070	GLI3		Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 216947724.	NM_000168.6(GLI3):c.2961C>T (p.Tyr987=) GRCh37: Chr7:42005710 GRCh38: Chr7:41966112	GLI3		Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Benign (Feb 24, 2022)	criteria provided, single submitter
Select item 216827225.	NM_000168.6(GLI3):c.2434A>T (p.Thr812Ser) GRCh37: Chr7:42006237 GRCh38: Chr7:41966639	GLI3	T812S	Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 216816926.	NM_000168.6(GLI3):c.1356+16C>T GRCh37: Chr7:42064847 GRCh38: Chr7:42025248	GLI3		Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Likely benign (Jun 23, 2022)	criteria provided, single submitter
Select item 216623427.	NM_000168.6(GLI3):c.4234A>T (p.Thr1412Ser) GRCh37: Chr7:42004437 GRCh38: Chr7:41964839	GLI3	T1412S	Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome	Uncertain significance (Aug 17, 2022)	criteria provided, single submitter
Select item 216253528.	NM_000168.6(GLI3):c.3517TCC[2] (p.Ser1175del) GRCh37: Chr7:42005146-42005148 GRCh38: Chr7:41965548-41965550	GLI3	S1175del	Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter
Select item 216190929.	NM_000168.6(GLI3):c.2003C>T (p.Pro668Leu) GRCh37: Chr7:42012036 GRCh38: Chr7:41972437	GLI3	P668L	Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Benign (Sep 14, 2022)	criteria provided, single submitter
Select item 215622430.	NM_000168.6(GLI3):c.368-3C>T GRCh37: Chr7:42116459 GRCh38: Chr7:42076860	GLI3		Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 215436831.	NM_000168.6(GLI3):c.3539G>C (p.Gly1180Ala) GRCh37: Chr7:42005132 GRCh38: Chr7:41965534	GLI3	G1180A	Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome	Benign (Aug 22, 2022)	criteria provided, single submitter
Select item 215420632.	NM_000168.6(GLI3):c.1553T>A (p.Leu518Gln) GRCh37: Chr7:42018292 GRCh38: Chr7:41978693	GLI3	L518Q	Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome	Likely benign (Jul 1, 2022)	criteria provided, single submitter
Select item 215268533.	NM_000168.6(GLI3):c.1968C>T (p.Ser656=) GRCh37: Chr7:42012071 GRCh38: Chr7:41972472	GLI3		Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Likely benign (Oct 27, 2022)	criteria provided, single submitter
Select item 215211534.	NM_000168.6(GLI3):c.1029-6G>T GRCh37: Chr7:42066017 GRCh38: Chr7:42026418	GLI3		Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Likely benign (Jun 9, 2022)	criteria provided, single submitter
Select item 215103135.	NM_000168.6(GLI3):c.4392C>T (p.Asp1464=) GRCh37: Chr7:42004279 GRCh38: Chr7:41964681	GLI3		Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Likely benign (Oct 20, 2022)	criteria provided, single submitter
Select item 214976336.	NM_000168.6(GLI3):c.2000G>A (p.Arg667Gln) GRCh37: Chr7:42012039 GRCh38: Chr7:41972440	GLI3	R667Q	Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Likely benign (Sep 30, 2022)	criteria provided, single submitter
Select item 214931437.	NM_000168.6(GLI3):c.4020C>G (p.Pro1340=) GRCh37: Chr7:42004651 GRCh38: Chr7:41965053	GLI3		Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Likely benign (Jun 7, 2022)	criteria provided, single submitter
Select item 214742138.	NM_000168.6(GLI3):c.4105G>A (p.Gly1369Ser) GRCh37: Chr7:42004566 GRCh38: Chr7:41964968	GLI3	G1369S	Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome	Uncertain significance (Feb 24, 2022)	criteria provided, single submitter
Select item 214738739.	NM_000168.6(GLI3):c.2550C>T (p.Ser850=) GRCh37: Chr7:42006121 GRCh38: Chr7:41966523	GLI3		Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Benign (Aug 9, 2022)	criteria provided, single submitter
Select item 214698140.	NM_000168.6(GLI3):c.2395C>A (p.Pro799Thr) GRCh37: Chr7:42007230 GRCh38: Chr7:41967632	GLI3	P799T	Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 214525441.	NM_000168.6(GLI3):c.2862G>T (p.Lys954Asn) GRCh37: Chr7:42005809 GRCh38: Chr7:41966211	GLI3	K954N	Inborn genetic diseases, Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome	Conflicting interpretations of pathogenicity (Mar 2, 2023)	criteria provided, conflicting interpretations
Select item 214435842.	NM_000168.6(GLI3):c.4247G>T (p.Cys1416Phe) GRCh37: Chr7:42004424 GRCh38: Chr7:41964826	GLI3	C1416F	Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 214351743.	NM_000168.6(GLI3):c.1204C>G (p.Pro402Ala) GRCh37: Chr7:42065836 GRCh38: Chr7:42026237	GLI3	P402A	Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Uncertain significance (Mar 20, 2022)	criteria provided, single submitter
Select item 214245644.	NM_000168.6(GLI3):c.2486G>T (p.Gly829Val) GRCh37: Chr7:42006185 GRCh38: Chr7:41966587	GLI3	G829V	Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Likely benign (Feb 8, 2022)	criteria provided, single submitter
Select item 214245445.	NM_000168.6(GLI3):c.4710G>A (p.Ala1570=) GRCh37: Chr7:42003961 GRCh38: Chr7:41964363	GLI3		Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Benign (Sep 26, 2022)	criteria provided, single submitter
Select item 214243846.	NM_000168.6(GLI3):c.1254G>A (p.Thr418=) GRCh37: Chr7:42064965 GRCh38: Chr7:42025366	GLI3		Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Benign (Aug 31, 2022)	criteria provided, single submitter
Select item 213995247.	NM_000168.6(GLI3):c.4037G>A (p.Gly1346Glu) GRCh37: Chr7:42004634 GRCh38: Chr7:41965036	GLI3	G1346E	Inborn genetic diseases, Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Uncertain significance (Sep 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 213381548.	NM_000168.6(GLI3):c.4043_4045del (p.Ile1348del) GRCh37: Chr7:42004626-42004628 GRCh38: Chr7:41965028-41965030	GLI3	I1348del	Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 213266349.	NM_000168.6(GLI3):c.1835C>T (p.Pro612Leu) GRCh37: Chr7:42012204 GRCh38: Chr7:41972605	GLI3	P612L	Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome	Uncertain significance (Oct 2, 2022)	criteria provided, single submitter
Select item 212974750.	NM_000168.6(GLI3):c.3132C>G (p.Leu1044=) GRCh37: Chr7:42005539 GRCh38: Chr7:41965941	GLI3		Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome	Likely benign (Apr 23, 2022)	criteria provided, single submitter
Select item 212162851.	NM_000168.6(GLI3):c.1357-7_1357-5del GRCh37: Chr7:42063212-42063214 GRCh38: Chr7:42023613-42023615	GLI3		Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Likely benign (Apr 4, 2022)	criteria provided, single submitter
Select item 211008052.	NM_000168.6(GLI3):c.712T>C (p.Tyr238His) GRCh37: Chr7:42085097 GRCh38: Chr7:42045498	GLI3	Y238H	Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 210427353.	NM_000168.6(GLI3):c.4477A>G (p.Ser1493Gly) GRCh37: Chr7:42004194 GRCh38: Chr7:41964596	GLI3	S1493G	Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 210383354.	NM_000168.6(GLI3):c.4495C>G (p.Leu1499Val) GRCh37: Chr7:42004176 GRCh38: Chr7:41964578	GLI3	L1499V	Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome	Likely benign (Mar 28, 2022)	criteria provided, single submitter
Select item 210212355.	NM_000168.6(GLI3):c.2991G>T (p.Ala997=) GRCh37: Chr7:42005680 GRCh38: Chr7:41966082	GLI3		Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Likely benign (Feb 22, 2022)	criteria provided, single submitter
Select item 209260956.	NM_000168.6(GLI3):c.679+9A>G GRCh37: Chr7:42088081 GRCh38: Chr7:42048482	GLI3		Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Likely benign (Jul 25, 2022)	criteria provided, single submitter
Select item 208454957.	NM_000168.6(GLI3):c.2408C>T (p.Ala803Val) GRCh37: Chr7:42007217 GRCh38: Chr7:41967619	GLI3	A803V	Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 208273258.	NM_000168.6(GLI3):c.1471T>C (p.Phe491Leu) GRCh37: Chr7:42063093 GRCh38: Chr7:42023494	GLI3	F491L	Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome	Benign (Jul 26, 2022)	criteria provided, single submitter
Select item 208266359.	NM_000168.6(GLI3):c.368-2A>C GRCh37: Chr7:42116458 GRCh38: Chr7:42076859	GLI3		Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Likely pathogenic (Jan 14, 2022)	criteria provided, single submitter
Select item 208061960.	NM_000168.6(GLI3):c.1194G>A (p.Thr398=) GRCh37: Chr7:42065846 GRCh38: Chr7:42026247	GLI3		Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Likely benign (Mar 6, 2022)	criteria provided, single submitter
Select item 208041761.	NM_000168.6(GLI3):c.2962G>A (p.Gly988Arg) GRCh37: Chr7:42005709 GRCh38: Chr7:41966111	GLI3	G988R	Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 207769162.	NM_000168.6(GLI3):c.367+19C>T GRCh37: Chr7:42187806 GRCh38: Chr7:42148207	GLI3		Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Likely benign (Sep 18, 2022)	criteria provided, single submitter
Select item 207664463.	NM_000168.6(GLI3):c.1332C>T (p.Pro444=) GRCh37: Chr7:42064887 GRCh38: Chr7:42025288	GLI3		Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Likely benign (Feb 27, 2022)	criteria provided, single submitter
Select item 207537864.	NM_000168.6(GLI3):c.3286G>A (p.Val1096Met) GRCh37: Chr7:42005385 GRCh38: Chr7:41965787	GLI3	V1096M	Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Likely benign (Aug 29, 2022)	criteria provided, single submitter
Select item 207424065.	NM_000168.6(GLI3):c.956C>T (p.Thr319Met) GRCh37: Chr7:42079709 GRCh38: Chr7:42040110	GLI3	T319M	Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 207419966.	NM_000168.6(GLI3):c.2501C>G (p.Ser834Cys) GRCh37: Chr7:42006170 GRCh38: Chr7:41966572	GLI3	S834C	Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Likely benign (Jul 26, 2022)	criteria provided, single submitter
Select item 207040667.	NM_000168.6(GLI3):c.4016G>A (p.Arg1339His) GRCh37: Chr7:42004655 GRCh38: Chr7:41965057	GLI3	R1339H	Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome	Likely benign (Mar 31, 2022)	criteria provided, single submitter
Select item 206120968.	NM_000168.6(GLI3):c.367+1G>A GRCh37: Chr7:42187824 GRCh38: Chr7:42148225	GLI3		Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome	Likely pathogenic (Jul 9, 2022)	criteria provided, single submitter
Select item 206042969.	NM_000168.6(GLI3):c.39_41del (p.Lys15del) GRCh37: Chr7:42262812-42262814 GRCh38: Chr7:42223213-42223215	GLI3	K15del	Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 206042870.	NM_000168.6(GLI3):c.4354C>T (p.Gln1452Ter) GRCh37: Chr7:42004317 GRCh38: Chr7:41964719	GLI3	Q1452*	Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Pathogenic (Sep 6, 2022)	criteria provided, single submitter
Select item 205249971.	NM_000168.6(GLI3):c.3946G>A (p.Asp1316Asn) GRCh37: Chr7:42004725 GRCh38: Chr7:41965127	GLI3	D1316N	Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Likely benign (Aug 6, 2022)	criteria provided, single submitter
Select item 205183472.	NM_000168.6(GLI3):c.4144G>C (p.Gly1382Arg) GRCh37: Chr7:42004527 GRCh38: Chr7:41964929	GLI3	G1382R	Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Uncertain significance (Aug 24, 2022)	criteria provided, single submitter
Select item 205085073.	NM_000168.6(GLI3):c.2329C>T (p.His777Tyr) GRCh37: Chr7:42007296 GRCh38: Chr7:41967698	GLI3	H777Y	Inborn genetic diseases, Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Conflicting interpretations of pathogenicity (May 30, 2022)	criteria provided, conflicting interpretations
Select item 205076874.	NM_000168.6(GLI3):c.2784C>T (p.Arg928=) GRCh37: Chr7:42005887 GRCh38: Chr7:41966289	GLI3		Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Benign (Jun 20, 2022)	criteria provided, single submitter
Select item 204845775.	NM_000168.6(GLI3):c.3569C>T (p.Ala1190Val) GRCh37: Chr7:42005102 GRCh38: Chr7:41965504	GLI3	A1190V	Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Likely benign (May 12, 2022)	criteria provided, single submitter
Select item 204644176.	NM_000168.6(GLI3):c.1289T>C (p.Met430Thr) GRCh37: Chr7:42064930 GRCh38: Chr7:42025331	GLI3	M430T	Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 204589277.	NM_000168.6(GLI3):c.2328G>A (p.Glu776=) GRCh37: Chr7:42007297 GRCh38: Chr7:41967699	GLI3		Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome	Likely benign (Jul 16, 2022)	criteria provided, single submitter
Select item 203956278.	NM_000168.6(GLI3):c.3210C>A (p.Thr1070=) GRCh37: Chr7:42005461 GRCh38: Chr7:41965863	GLI3		Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Likely benign (Apr 5, 2022)	criteria provided, single submitter
Select item 203916179.	NM_000168.6(GLI3):c.474-3C>T GRCh37: Chr7:42088298 GRCh38: Chr7:42048699	GLI3		Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Uncertain significance (Oct 27, 2022)	criteria provided, single submitter
Select item 203899280.	NM_000168.6(GLI3):c.3859C>G (p.Gln1287Glu) GRCh37: Chr7:42004812 GRCh38: Chr7:41965214	GLI3	Q1287E	Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Uncertain significance (May 6, 2022)	criteria provided, single submitter
Select item 203892881.	NM_000168.6(GLI3):c.3765G>A (p.Gly1255=) GRCh37: Chr7:42004906 GRCh38: Chr7:41965308	GLI3		Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Benign (Feb 25, 2022)	criteria provided, single submitter
Select item 203841082.	NM_000168.6(GLI3):c.836dup (p.Ser280fs) GRCh37: Chr7:42079828-42079829 GRCh38: Chr7:42040229-42040230	GLI3	S280fs	Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Pathogenic (Dec 8, 2021)	criteria provided, single submitter
Select item 203736983.	NM_000168.6(GLI3):c.235A>T (p.Ser79Cys) GRCh37: Chr7:42187957 GRCh38: Chr7:42148358	GLI3	S79C	Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Likely benign (Feb 22, 2022)	criteria provided, single submitter
Select item 203715984.	NM_000168.6(GLI3):c.2382C>A (p.Asn794Lys) GRCh37: Chr7:42007243 GRCh38: Chr7:41967645	GLI3	N794K	Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Likely benign (Sep 16, 2022)	criteria provided, single submitter
Select item 203712485.	NM_000168.6(GLI3):c.90C>T (p.Ser30=) GRCh37: Chr7:42262763 GRCh38: Chr7:42223164	GLI3		Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Likely benign (Aug 3, 2022)	criteria provided, single submitter
Select item 203496886.	NM_000168.6(GLI3):c.1648delT (p.Phe550fs) GRCh37: Chr7:42017319 GRCh38: Chr7:41977720	GLI3	F550fs	Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Pathogenic (Oct 9, 2022)	criteria provided, single submitter
Select item 203345287.	NM_000168.6(GLI3):c.533dup (p.His179fs) GRCh37: Chr7:42088235-42088236 GRCh38: Chr7:42048636-42048637	GLI3	H179fs	Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Pathogenic (Oct 8, 2022)	criteria provided, single submitter
Select item 203154088.	NM_000168.6(GLI3):c.548del (p.Thr183fs) GRCh37: Chr7:42088221 GRCh38: Chr7:42048622	GLI3	T183fs	Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Pathogenic (Sep 20, 2022)	criteria provided, single submitter
Select item 203075589.	NM_000168.6(GLI3):c.3109A>G (p.Thr1037Ala) GRCh37: Chr7:42005562 GRCh38: Chr7:41965964	GLI3	T1037A	Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Benign (Oct 19, 2022)	criteria provided, single submitter
Select item 202900390.	NM_000168.6(GLI3):c.1058C>T (p.Ala353Val) GRCh37: Chr7:42065982 GRCh38: Chr7:42026383	GLI3	A353V	Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome, Inborn genetic diseases	Uncertain significance (Mar 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 202702791.	NM_000168.6(GLI3):c.3647_3665del (p.Leu1216fs) GRCh37: Chr7:42005006-42005024 GRCh38: Chr7:41965408-41965426	GLI3	L1216fs	Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Pathogenic (Aug 25, 2022)	criteria provided, single submitter
Select item 202610992.	NM_000168.6(GLI3):c.3147C>A (p.Tyr1049Ter) GRCh37: Chr7:42005524 GRCh38: Chr7:41965926	GLI3	Y1049*	Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Pathogenic (Aug 22, 2022)	criteria provided, single submitter
Select item 202224793.	NM_000168.6(GLI3):c.245_299del (p.Arg82fs) GRCh37: Chr7:42187893-42187947 GRCh38: Chr7:42148294-42148348	GLI3	R82fs	Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Pathogenic (Aug 6, 2022)	criteria provided, single submitter
Select item 201951794.	NM_000168.6(GLI3):c.2146del (p.Gln716fs) GRCh37: Chr7:42007479 GRCh38: Chr7:41967881	GLI3	Q716fs	Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Pathogenic (Jul 25, 2022)	criteria provided, single submitter
Select item 201805695.	NM_000168.6(GLI3):c.1040G>A (p.Ser347Asn) GRCh37: Chr7:42066000 GRCh38: Chr7:42026401	GLI3	S347N	Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 201470196.	NM_000168.6(GLI3):c.522T>C (p.Ile174=) GRCh37: Chr7:42088247 GRCh38: Chr7:42048648	GLI3		Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Likely benign (Jul 14, 2022)	criteria provided, single submitter
Select item 200749397.	NM_000168.6(GLI3):c.802A>G (p.Met268Val) GRCh37: Chr7:42085007 GRCh38: Chr7:42045408	GLI3	M268V	Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Likely benign (Aug 1, 2022)	criteria provided, single submitter
Select item 200293598.	NM_000168.6(GLI3):c.4186G>C (p.Ala1396Pro) GRCh37: Chr7:42004485 GRCh38: Chr7:41964887	GLI3	A1396P	Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome	Likely benign (Jun 7, 2022)	criteria provided, single submitter
Select item 200238999.	NM_000168.6(GLI3):c.368-1G>C GRCh37: Chr7:42116457 GRCh38: Chr7:42076858	GLI3		Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome	Likely pathogenic (Aug 9, 2022)	criteria provided, single submitter
Select item 1999047100.	NM_000168.6(GLI3):c.1618C>G (p.His540Asp) GRCh37: Chr7:42018227 GRCh38: Chr7:41978628	GLI3	H540D	Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome	Uncertain significance (May 25, 2022)	criteria provided, single submitter

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