ClinVar for MedGen (Select 324369) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Links from MedGen

Items: 1 to 100 of 423

<< First< Prev

Page of 5

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26275091.	NM_001374353.1(GLI2):c.3452A>G (p.Gln1151Arg) GRCh37: Chr2:121746993 GRCh38: Chr2:120989417	GLI2	Q1026R, Q1151R, Q1168R	Holoprosencephaly 9	Uncertain significance	criteria provided, single submitter
Select item 25849562.	NM_001374353.1(GLI2):c.1183-12C>T GRCh37: Chr2:121732539 GRCh38: Chr2:120974963	GLI2	P408S	Holoprosencephaly 9	Uncertain significance	criteria provided, single submitter
Select item 25791533.	NM_001374353.1(GLI2):c.1183-45del GRCh37: Chr2:121732505 GRCh38: Chr2:120974929	GLI2	V397fs	Holoprosencephaly 9	Likely pathogenic (Sep 5, 2023)	criteria provided, single submitter
Select item 24417424.	NM_001374353.1(GLI2):c.2454del (p.Ser819fs) GRCh37: Chr2:121745994 GRCh38: Chr2:120988418	GLI2	S694fs, S819fs, S836fs	Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Pathogenic (Nov 9, 2022)	criteria provided, single submitter
Select item 24316515.	NM_001374353.1(GLI2):c.3125_3126insTA (p.Leu1043fs) GRCh37: Chr2:121746665-121746666 GRCh38: Chr2:120989089-120989090	GLI2	L1043fs, L1060fs, L918fs	Holoprosencephaly 9	Likely pathogenic (Aug 10, 2022)	criteria provided, single submitter
Select item 24316296.	NM_001374353.1(GLI2):c.2743C>T (p.Pro915Ser) GRCh37: Chr2:121746284 GRCh38: Chr2:120988708	GLI2	P790S, P915S, P932S	Holoprosencephaly 9	Uncertain significance (Dec 22, 2022)	criteria provided, single submitter
Select item 24187327.	NM_001374353.1(GLI2):c.1342G>A (p.Gly448Arg) GRCh37: Chr2:121736034 GRCh38: Chr2:120978458	GLI2	G323R, G448R, G465R	Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 24154758.	NM_001374353.1(GLI2):c.3293C>T (p.Ser1098Phe) GRCh37: Chr2:121746834 GRCh38: Chr2:120989258	GLI2	S1098F, S1115F, S973F	Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Uncertain significance (Feb 11, 2022)	criteria provided, single submitter
Select item 24144049.	NM_001374353.1(GLI2):c.2288C>T (p.Ala763Val) GRCh37: Chr2:121745829 GRCh38: Chr2:120988253	GLI2	A638V, A763V, A780V	Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Uncertain significance (Mar 10, 2022)	criteria provided, single submitter
Select item 238742610.	NM_001374353.1(GLI2):c.985A>G (p.Met329Val) GRCh37: Chr2:121728108 GRCh38: Chr2:120970532	GLI2	M204V, M329V	Inborn genetic diseases, Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Uncertain significance (Oct 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 220313911.	NM_001374353.1(GLI2):c.2747G>A (p.Arg916His) GRCh37: Chr2:121746288 GRCh38: Chr2:120988712	GLI2	R916H, R791H, R933H	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 220238412.	NM_001374353.1(GLI2):c.140C>T (p.Ala47Val) GRCh37: Chr2:121555036 GRCh38: Chr2:120797460	GLI2	A47V	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9	Uncertain significance (Jul 28, 2022)	criteria provided, single submitter
Select item 219818713.	NM_001374353.1(GLI2):c.4019G>A (p.Gly1340Asp) GRCh37: Chr2:121747560 GRCh38: Chr2:120989984	GLI2	G1340D, G1215D, G1357D	Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Uncertain significance (Apr 24, 2022)	criteria provided, single submitter
Select item 219604614.	NM_001374353.1(GLI2):c.4254C>T (p.Asp1418=) GRCh37: Chr2:121747795 GRCh38: Chr2:120990219	GLI2		Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Likely benign (Oct 10, 2022)	criteria provided, single submitter
Select item 219344215.	NM_001374353.1(GLI2):c.3951G>A (p.Gln1317=) GRCh37: Chr2:121747492 GRCh38: Chr2:120989916	GLI2		Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 219300416.	NM_001374353.1(GLI2):c.4504G>A (p.Gly1502Ser) GRCh37: Chr2:121748045 GRCh38: Chr2:120990469	GLI2	G1377S, G1519S, G1502S	Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 218965817.	NM_001374353.1(GLI2):c.4189G>C (p.Glu1397Gln) GRCh37: Chr2:121747730 GRCh38: Chr2:120990154	GLI2	E1272Q, E1414Q, E1397Q	Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Uncertain significance (Oct 7, 2022)	criteria provided, single submitter
Select item 218903218.	NM_001374353.1(GLI2):c.1905+3A>G GRCh37: Chr2:121742322 GRCh38: Chr2:120984746	GLI2		Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 218817019.	NM_001374353.1(GLI2):c.1466C>T (p.Thr489Met) GRCh37: Chr2:121736158 GRCh38: Chr2:120978582	GLI2	T364M, T506M, T489M	not provided, Inborn genetic diseases, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9	Uncertain significance (May 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 218752720.	NM_001374353.1(GLI2):c.1472A>C (p.Glu491Ala) GRCh37: Chr2:121740296 GRCh38: Chr2:120982720	GLI2	E366A, E491A, E508A	Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 218132021.	NM_001374353.1(GLI2):c.3195C>T (p.Thr1065=) GRCh37: Chr2:121746736 GRCh38: Chr2:120989160	GLI2		Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Likely benign (Apr 18, 2022)	criteria provided, single submitter
Select item 218091222.	NM_001374353.1(GLI2):c.2751A>C (p.Pro917=) GRCh37: Chr2:121746292 GRCh38: Chr2:120988716	GLI2		Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Likely benign (Apr 25, 2022)	criteria provided, single submitter
Select item 218037723.	NM_001374353.1(GLI2):c.2466G>A (p.Ser822=) GRCh37: Chr2:121746007 GRCh38: Chr2:120988431	GLI2		Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Likely benign (Jul 26, 2022)	criteria provided, single submitter
Select item 217775524.	NM_001374353.1(GLI2):c.1447G>A (p.Glu483Lys) GRCh37: Chr2:121736139 GRCh38: Chr2:120978563	GLI2	E358K, E500K, E483K	Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, not provided	Uncertain significance (Jun 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 217495025.	NM_001374353.1(GLI2):c.4039G>A (p.Ala1347Thr) GRCh37: Chr2:121747580 GRCh38: Chr2:120990004	GLI2	A1347T, A1364T, A1222T	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9	Uncertain significance (Feb 9, 2022)	criteria provided, single submitter
Select item 217233626.	NM_001374353.1(GLI2):c.4644C>T (p.Val1548=) GRCh37: Chr2:121748185 GRCh38: Chr2:120990609	GLI2		Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Likely benign (Jan 1, 2022)	criteria provided, single submitter
Select item 216500027.	NM_001374353.1(GLI2):c.3350C>T (p.Pro1117Leu) GRCh37: Chr2:121746891 GRCh38: Chr2:120989315	GLI2	P1117L, P1134L, P992L	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9	Uncertain significance (Sep 25, 2022)	criteria provided, single submitter
Select item 215929628.	NM_001374353.1(GLI2):c.2982C>T (p.Ser994=) GRCh37: Chr2:121746523 GRCh38: Chr2:120988947	GLI2		Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9	Likely benign (Jan 28, 2022)	criteria provided, single submitter
Select item 215394129.	NM_001374353.1(GLI2):c.3466G>T (p.Val1156Leu) GRCh37: Chr2:121747007 GRCh38: Chr2:120989431	GLI2	V1156L, V1173L, V1031L	Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Uncertain significance (Jul 8, 2022)	criteria provided, single submitter
Select item 214781430.	NM_001374353.1(GLI2):c.2715_2735dup (p.Ala912_Gly913insProGluArgThrLeuProAla) GRCh37: Chr2:121746252-121746253 GRCh38: Chr2:120988676-120988677	GLI2		Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Uncertain significance (May 28, 2022)	criteria provided, single submitter
Select item 214747131.	NM_001374353.1(GLI2):c.4023G>A (p.Pro1341=) GRCh37: Chr2:121747564 GRCh38: Chr2:120989988	GLI2		Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9	Likely benign (Jun 3, 2022)	criteria provided, single submitter
Select item 214429132.	NM_001374353.1(GLI2):c.1262A>G (p.Asn421Ser) GRCh37: Chr2:121732630 GRCh38: Chr2:120975054	GLI2	N438S, N421S, N296S	Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, not provided	Uncertain significance (Feb 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 214107333.	NM_001374353.1(GLI2):c.1934C>T (p.Ser645Leu) GRCh37: Chr2:121743882 GRCh38: Chr2:120986306	GLI2	S645L, S662L, S520L	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9	Uncertain significance (Oct 29, 2022)	criteria provided, single submitter
Select item 213956634.	NM_001374353.1(GLI2):c.2162A>G (p.Lys721Arg) GRCh37: Chr2:121744110 GRCh38: Chr2:120986534	GLI2	K596R, K738R, K721R	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 213033735.	NM_001374353.1(GLI2):c.644-11C>T GRCh37: Chr2:121726279 GRCh38: Chr2:120968703	GLI2		Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Likely benign (Apr 24, 2022)	criteria provided, single submitter
Select item 212941536.	NM_001374353.1(GLI2):c.693G>A (p.Arg231=) GRCh37: Chr2:121726339 GRCh38: Chr2:120968763	GLI2		Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9	Likely benign (Sep 3, 2022)	criteria provided, single submitter
Select item 211298437.	NM_001374353.1(GLI2):c.9dup (p.Ser4fs) GRCh37: Chr2:121554904-121554905 GRCh38: Chr2:120797328-120797329	GLI2	S4fs	Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Pathogenic (Apr 8, 2022)	criteria provided, single submitter
Select item 211230338.	NM_001374353.1(GLI2):c.1537G>C (p.Glu513Gln) GRCh37: Chr2:121740361 GRCh38: Chr2:120982785	GLI2	E513Q, E388Q, E530Q	Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 210834039.	NM_001374353.1(GLI2):c.3552G>A (p.Thr1184=) GRCh37: Chr2:121747093 GRCh38: Chr2:120989517	GLI2		Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Benign (Sep 7, 2022)	criteria provided, single submitter
Select item 210623340.	NM_001374353.1(GLI2):c.1897A>C (p.Ser633Arg) GRCh37: Chr2:121742311 GRCh38: Chr2:120984735	GLI2	S508R, S633R, S650R	Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, not provided	Uncertain significance (Mar 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 210479841.	NM_001374353.1(GLI2):c.1633-14G>T GRCh37: Chr2:121742033 GRCh38: Chr2:120984457	GLI2		Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9	Likely benign (Aug 3, 2022)	criteria provided, single submitter
Select item 210470742.	NM_001374353.1(GLI2):c.3230C>T (p.Ser1077Phe) GRCh37: Chr2:121746771 GRCh38: Chr2:120989195	GLI2	S1094F, S952F, S1077F	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 208930943.	NM_001374353.1(GLI2):c.2883C>G (p.Ala961=) GRCh37: Chr2:121746424 GRCh38: Chr2:120988848	GLI2		Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Likely benign (Jul 2, 2022)	criteria provided, single submitter
Select item 208523344.	NM_001374353.1(GLI2):c.1468-12G>A GRCh37: Chr2:121740280 GRCh38: Chr2:120982704	GLI2		Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Likely benign (Mar 20, 2022)	criteria provided, single submitter
Select item 208098045.	NM_001374353.1(GLI2):c.971T>C (p.Leu324Pro) GRCh37: Chr2:121728094 GRCh38: Chr2:120970518	GLI2	L324P, L199P	Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 208097146.	NM_001374353.1(GLI2):c.3577G>A (p.Gly1193Arg) GRCh37: Chr2:121747118 GRCh38: Chr2:120989542	GLI2	G1210R, G1068R, G1193R	Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Uncertain significance (Aug 24, 2022)	criteria provided, single submitter
Select item 208013747.	NM_001374353.1(GLI2):c.1059+20A>G GRCh37: Chr2:121728202 GRCh38: Chr2:120970626	GLI2		Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 207872548.	NM_001374353.1(GLI2):c.1899C>T (p.Ser633=) GRCh37: Chr2:121742313 GRCh38: Chr2:120984737	GLI2		Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 206734149.	NM_001374353.1(GLI2):c.4509T>C (p.Asp1503=) GRCh37: Chr2:121748050 GRCh38: Chr2:120990474	GLI2		Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 206660950.	NM_001374353.1(GLI2):c.3841C>T (p.Arg1281Cys) GRCh37: Chr2:121747382 GRCh38: Chr2:120989806	GLI2	R1281C, R1156C, R1298C	Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Likely benign (Apr 29, 2022)	criteria provided, single submitter
Select item 206659651.	NM_001374353.1(GLI2):c.3624G>T (p.Leu1208=) GRCh37: Chr2:121747165 GRCh38: Chr2:120989589	GLI2		Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 206655552.	NM_001374353.1(GLI2):c.968T>C (p.Phe323Ser) GRCh37: Chr2:121728091 GRCh38: Chr2:120970515	GLI2	F198S, F323S	Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Uncertain significance (Jul 27, 2022)	criteria provided, single submitter
Select item 206589253.	NM_001374353.1(GLI2):c.2580G>A (p.Gly860=) GRCh37: Chr2:121746121 GRCh38: Chr2:120988545	GLI2		Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 206577554.	NM_001374353.1(GLI2):c.2291G>A (p.Gly764Glu) GRCh37: Chr2:121745832 GRCh38: Chr2:120988256	GLI2	G781E, G639E, G764E	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9	Uncertain significance (Apr 4, 2022)	criteria provided, single submitter
Select item 206411855.	NM_001374353.1(GLI2):c.3364A>G (p.Lys1122Glu) GRCh37: Chr2:121746905 GRCh38: Chr2:120989329	GLI2	K1139E, K1122E, K997E	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9	Uncertain significance (Jun 30, 2022)	criteria provided, single submitter
Select item 206104756.	NM_001374353.1(GLI2):c.2089G>T (p.Ala697Ser) GRCh37: Chr2:121744037 GRCh38: Chr2:120986461	GLI2	A572S, A714S, A697S	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 205848157.	NM_001374353.1(GLI2):c.3879T>C (p.Ala1293=) GRCh37: Chr2:121747420 GRCh38: Chr2:120989844	GLI2		Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Likely benign (Sep 8, 2022)	criteria provided, single submitter
Select item 205696658.	NM_001374353.1(GLI2):c.2243G>C (p.Gly748Ala) GRCh37: Chr2:121745784 GRCh38: Chr2:120988208	GLI2	G623A, G765A, G748A	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 205648659.	NM_001374353.1(GLI2):c.4404C>G (p.Pro1468=) GRCh37: Chr2:121747945 GRCh38: Chr2:120990369	GLI2		Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Likely benign (Dec 24, 2021)	criteria provided, single submitter
Select item 205497160.	NM_001374353.1(GLI2):c.2789G>A (p.Gly930Asp) GRCh37: Chr2:121746330 GRCh38: Chr2:120988754	GLI2	G947D, G805D, G930D	Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 205316761.	NM_001374353.1(GLI2):c.643+16C>A GRCh37: Chr2:121713022 GRCh38: Chr2:120955446	GLI2		Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9	Likely benign (Jul 2, 2022)	criteria provided, single submitter
Select item 205124162.	NM_001374353.1(GLI2):c.1902C>T (p.Ser634=) GRCh37: Chr2:121742316 GRCh38: Chr2:120984740	GLI2		Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Likely benign (Dec 20, 2020)	criteria provided, single submitter
Select item 205071163.	NM_001374353.1(GLI2):c.1599C>T (p.Arg533=) GRCh37: Chr2:121740423 GRCh38: Chr2:120982847	GLI2		Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Likely benign (Jul 2, 2022)	criteria provided, single submitter
Select item 205019664.	NM_001374353.1(GLI2):c.271G>A (p.Gly91Ser) GRCh37: Chr2:121708835 GRCh38: Chr2:120951259	GLI2	G91S	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9	Uncertain significance (Jun 28, 2022)	criteria provided, single submitter
Select item 204574365.	NM_001374353.1(GLI2):c.3839A>G (p.Asn1280Ser) GRCh37: Chr2:121747380 GRCh38: Chr2:120989804	GLI2	N1155S, N1280S, N1297S	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9, GLI2-related condition	Uncertain significance (May 16, 2023)	criteria provided, multiple submitters, no conflicts
Select item 204550466.	NM_001374353.1(GLI2):c.2064C>T (p.Asp688=) GRCh37: Chr2:121744012 GRCh38: Chr2:120986436	GLI2		Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 204332467.	NM_001374353.1(GLI2):c.3696A>C (p.Gln1232His) GRCh37: Chr2:121747237 GRCh38: Chr2:120989661	GLI2	Q1232H, Q1249H, Q1107H	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 204308568.	NM_001374353.1(GLI2):c.2177C>T (p.Ser726Phe) GRCh37: Chr2:121744125 GRCh38: Chr2:120986549	GLI2	S601F, S726F, S743F	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9	Uncertain significance (Sep 10, 2022)	criteria provided, single submitter
Select item 203800569.	NM_001374353.1(GLI2):c.1330G>A (p.Glu444Lys) GRCh37: Chr2:121736022 GRCh38: Chr2:120978446	GLI2	E461K, E444K, E319K	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9	Uncertain significance (Feb 3, 2022)	criteria provided, single submitter
Select item 203498070.	NM_001374353.1(GLI2):c.1393A>T (p.Lys465Ter) GRCh37: Chr2:121736085 GRCh38: Chr2:120978509	GLI2	K482, K465, K340*	Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Pathogenic (Dec 6, 2021)	criteria provided, single submitter
Select item 203170171.	NM_001374353.1(GLI2):c.4184C>T (p.Thr1395Ile) GRCh37: Chr2:121747725 GRCh38: Chr2:120990149	GLI2	T1270I, T1395I, T1412I	Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 202891072.	NM_001374353.1(GLI2):c.1060-12A>G GRCh37: Chr2:121729505 GRCh38: Chr2:120971929	GLI2		Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Likely benign (Sep 17, 2022)	criteria provided, single submitter
Select item 200736573.	NM_001374353.1(GLI2):c.2028C>A (p.Asp676Glu) GRCh37: Chr2:121743976 GRCh38: Chr2:120986400	GLI2	D676E, D551E, D693E	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 200669974.	NM_001374353.1(GLI2):c.4311C>G (p.Tyr1437Ter) GRCh37: Chr2:121747852 GRCh38: Chr2:120990276	GLI2	Y1312, Y1437, Y1454*	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9	Pathogenic (Jul 21, 2022)	criteria provided, single submitter
Select item 199477175.	NM_001374353.1(GLI2):c.4552C>T (p.His1518Tyr) GRCh37: Chr2:121748093 GRCh38: Chr2:120990517	GLI2	H1393Y, H1518Y, H1535Y	Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Uncertain significance (May 15, 2022)	criteria provided, single submitter
Select item 199151976.	NM_001374353.1(GLI2):c.1341C>T (p.His447=) GRCh37: Chr2:121736033 GRCh38: Chr2:120978457	GLI2		Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 199023577.	NM_001374353.1(GLI2):c.3701A>C (p.His1234Pro) GRCh37: Chr2:121747242 GRCh38: Chr2:120989666	GLI2	H1109P, H1251P, H1234P	Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Uncertain significance (Sep 29, 2022)	criteria provided, single submitter
Select item 198606478.	NM_001374353.1(GLI2):c.3423C>A (p.Ala1141=) GRCh37: Chr2:121746964 GRCh38: Chr2:120989388	GLI2		Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 198580979.	NM_001374353.1(GLI2):c.3255G>A (p.Pro1085=) GRCh37: Chr2:121746796 GRCh38: Chr2:120989220	GLI2		Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Likely benign (Jun 30, 2022)	criteria provided, single submitter
Select item 198048880.	NM_001374353.1(GLI2):c.3459C>G (p.Asn1153Lys) GRCh37: Chr2:121747000 GRCh38: Chr2:120989424	GLI2	N1170K, N1028K, N1153K	Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Uncertain significance (Dec 8, 2021)	criteria provided, single submitter
Select item 197880481.	NM_001374353.1(GLI2):c.2242G>A (p.Gly748Ser) GRCh37: Chr2:121744190 GRCh38: Chr2:120986614	GLI2	G623S, G748S, G765S	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9, GLI2-related condition	Uncertain significance (Sep 5, 2023)	criteria provided, multiple submitters, no conflicts
Select item 197772382.	NM_001374353.1(GLI2):c.1932G>A (p.Gln644=) GRCh37: Chr2:121743880 GRCh38: Chr2:120986304	GLI2		Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Likely benign (Mar 29, 2022)	criteria provided, single submitter
Select item 197267583.	NM_001374353.1(GLI2):c.908A>C (p.Gln303Pro) GRCh37: Chr2:121728031 GRCh38: Chr2:120970455	GLI2	Q178P, Q303P	Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 196882084.	NM_001374353.1(GLI2):c.649C>T (p.Arg217Cys) GRCh37: Chr2:121726295 GRCh38: Chr2:120968719	GLI2	R217C, R92C	Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 196468685.	NM_001374353.1(GLI2):c.1467+9C>T GRCh37: Chr2:121736168 GRCh38: Chr2:120978592	GLI2		Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 195975486.	NM_001374353.1(GLI2):c.3468G>T (p.Val1156=) GRCh37: Chr2:121747009 GRCh38: Chr2:120989433	GLI2		Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Likely benign (May 6, 2022)	criteria provided, single submitter
Select item 195545887.	NM_001374353.1(GLI2):c.4476G>T (p.Gln1492His) GRCh37: Chr2:121748017 GRCh38: Chr2:120990441	GLI2	Q1367H, Q1492H, Q1509H	Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Inborn genetic diseases	Uncertain significance (Jun 16, 2023)	criteria provided, multiple submitters, no conflicts
Select item 195090988.	NM_001374353.1(GLI2):c.3644G>A (p.Ser1215Asn) GRCh37: Chr2:121747185 GRCh38: Chr2:120989609	GLI2	S1215N, S1090N, S1232N	Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 193811789.	NM_001374353.1(GLI2):c.83C>A (p.Pro28Gln) GRCh37: Chr2:121554979 GRCh38: Chr2:120797403	GLI2	P28Q	Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 193614690.	NM_001374353.1(GLI2):c.4560C>T (p.Leu1520=) GRCh37: Chr2:121748101 GRCh38: Chr2:120990525	GLI2		Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9	Likely benign (Feb 23, 2022)	criteria provided, single submitter
Select item 193532791.	NM_001374353.1(GLI2):c.4677C>T (p.Ala1559=) GRCh37: Chr2:121748218 GRCh38: Chr2:120990642	GLI2		Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9	Benign (Oct 7, 2022)	criteria provided, single submitter
Select item 192981092.	NM_001374353.1(GLI2):c.1589C>T (p.Ala530Val) GRCh37: Chr2:121740413 GRCh38: Chr2:120982837	GLI2	A405V, A530V, A547V	Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Uncertain significance (Oct 8, 2022)	criteria provided, single submitter
Select item 192674893.	NM_001374353.1(GLI2):c.66C>T (p.Ala22=) GRCh37: Chr2:121554962 GRCh38: Chr2:120797386	GLI2		Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9	Benign (Sep 16, 2022)	criteria provided, single submitter
Select item 191506094.	NM_001374353.1(GLI2):c.845+17A>G GRCh37: Chr2:121726508 GRCh38: Chr2:120968932	GLI2		Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Likely benign (Mar 29, 2022)	criteria provided, single submitter
Select item 190053395.	NM_001374353.1(GLI2):c.285C>G (p.Ile95Met) GRCh37: Chr2:121708849 GRCh38: Chr2:120951273	GLI2	I95M	Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Uncertain significance (Jun 9, 2022)	criteria provided, single submitter
Select item 190033996.	NM_001374353.1(GLI2):c.1137C>T (p.Thr379=) GRCh37: Chr2:121729594 GRCh38: Chr2:120972018	GLI2		Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9	Likely benign (Sep 17, 2022)	criteria provided, single submitter
Select item 190023697.	NM_001374353.1(GLI2):c.1183-65C>T GRCh37: Chr2:121732486 GRCh38: Chr2:120974910	GLI2		Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 172096898.	NM_001374353.1(GLI2):c.3020A>G (p.Tyr1007Cys) GRCh37: Chr2:121746561 GRCh38: Chr2:120988985	GLI2	Y1007C, Y1024C, Y882C	Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Uncertain significance (Oct 16, 2022)	criteria provided, single submitter
Select item 171964999.	NM_001374353.1(GLI2):c.2797C>G (p.His933Asp) GRCh37: Chr2:121746338 GRCh38: Chr2:120988762	GLI2	H808D, H933D, H950D	Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Uncertain significance (Sep 17, 2022)	criteria provided, single submitter
Select item 1716969100.	NM_001374353.1(GLI2):c.4434G>C (p.Gln1478His) GRCh37: Chr2:121747975 GRCh38: Chr2:120990399	GLI2	Q1353H, Q1478H, Q1495H	Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter

<< First< Prev

Page of 5