ClinVar for MedGen (Select 96586) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25854531.	NM_052989.3(IFT122):c.1862T>G (p.Met621Arg) GRCh37: Chr3:129207110 GRCh38: Chr3:129488267	IFT122	M471R, M510R, M562R, M672R, M412R, M613R, M621R	Cranioectodermal dysplasia 1	Uncertain significance	criteria provided, single submitter
Select item 25028312.	NM_052989.3(IFT122):c.1288A>G (p.Ile430Val) GRCh37: Chr3:129196999 GRCh38: Chr3:129478156	IFT122	I221V, I280V, I319V, I371V, I422V, I430V, I481V	Cranioectodermal dysplasia 1	Likely benign	no assertion criteria provided
Select item 24328053.	NM_052989.3(IFT122):c.94G>A (p.Gly32Arg) GRCh37: Chr3:129168766 GRCh38: Chr3:129449923	IFT122	G32R	Cranioectodermal dysplasia 1	Uncertain significance (Dec 15, 2020)	criteria provided, single submitter
Select item 24328044.	NM_052989.3(IFT122):c.197A>C (p.Lys66Thr) GRCh37: Chr3:129177445 GRCh38: Chr3:129458602	IFT122	K66T	Cranioectodermal dysplasia 1	Uncertain significance (May 19, 2021)	criteria provided, single submitter
Select item 24271585.	NC_000003.11:g.(?_129150344)_(129159234_?)dup GRCh37: Chr3:129150344-129159234	IFT122, MBD4		Cranioectodermal dysplasia 1	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 24253216.	NM_052989.3(IFT122):c.108+15T>C GRCh37: Chr3:129168795 GRCh38: Chr3:129449952	IFT122		Cranioectodermal dysplasia 1	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 24214147.	NM_052989.3(IFT122):c.718G>A (p.Asp240Asn) GRCh37: Chr3:129185887 GRCh38: Chr3:129467044	IFT122	D240N, D291N, D90N	Cranioectodermal dysplasia 1	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 22034308.	NM_052989.3(IFT122):c.3076_3080delinsGTA (p.Tyr1026fs) GRCh37: Chr3:129233320-129233324 GRCh38: Chr3:129514477-129514481	IFT122	Y876fs, Y916fs, Y1026fs, Y967fs, Y817fs, Y1019fs, Y1077fs	Cranioectodermal dysplasia 1	Pathogenic (Oct 5, 2022)	criteria provided, single submitter
Select item 22024919.	NM_052989.3(IFT122):c.3373C>G (p.Leu1125Val) GRCh37: Chr3:129236419 GRCh38: Chr3:129517576	IFT122	L1014V, L1067V, L1118V, L1176V, L997V, L1015V, L1048V, L1126V, L916V, L1049V, L1107V, L1125V, L1066V, L975V	Cranioectodermal dysplasia 1	Uncertain significance (May 20, 2022)	criteria provided, single submitter
Select item 220237010.	NM_052989.3(IFT122):c.1848G>A (p.Pro616=) GRCh37: Chr3:129202522 GRCh38: Chr3:129483679	IFT122		Cranioectodermal dysplasia 1	Likely benign (Jun 3, 2022)	criteria provided, single submitter
Select item 220014011.	NM_052989.3(IFT122):c.1836C>T (p.Ala612=) GRCh37: Chr3:129202510 GRCh38: Chr3:129483667	IFT122		Cranioectodermal dysplasia 1	Benign (Jul 30, 2022)	criteria provided, single submitter
Select item 220002512.	NM_052989.3(IFT122):c.3359G>A (p.Arg1120Gln) GRCh37: Chr3:129236405 GRCh38: Chr3:129517562	IFT122	R1044Q, R1062Q, R1113Q, R911Q, R970Q, R1120Q, R1010Q, R1171Q, R1009Q, R1043Q, R1061Q, R1102Q, R1121Q, R992Q	Cranioectodermal dysplasia 1	Uncertain significance (Feb 27, 2022)	criteria provided, single submitter
Select item 219675013.	NM_052989.3(IFT122):c.3192C>T (p.Asn1064=) GRCh37: Chr3:129234369 GRCh38: Chr3:129515526	IFT122		Cranioectodermal dysplasia 1	Likely benign (Apr 15, 2022)	criteria provided, single submitter
Select item 219506814.	NM_052989.3(IFT122):c.2876A>G (p.His959Arg) GRCh37: Chr3:129226595 GRCh38: Chr3:129507752	IFT122	H849R, H952R, H750R, H882R, H900R, H901R, H959R, H809R, H941R, H960R, H1010R, H831R, H848R, H883R	Cranioectodermal dysplasia 1	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 219487915.	NM_052989.3(IFT122):c.2303T>C (p.Val768Ala) GRCh37: Chr3:129218839 GRCh38: Chr3:129499996	IFT122	V618A, V760A, V819A, V639A, V691A, V768A, V559A, V657A, V709A, V750A	Cranioectodermal dysplasia 1	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter
Select item 219212016.	NM_052989.3(IFT122):c.1088A>G (p.Tyr363Cys) GRCh37: Chr3:129195585 GRCh38: Chr3:129476742	IFT122	Y213C, Y355C, Y154C, Y363C, Y414C, Y252C, Y304C	Cranioectodermal dysplasia 1	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 218838317.	NM_052989.3(IFT122):c.2724G>A (p.Glu908=) GRCh37: Chr3:129225325 GRCh38: Chr3:129506482	IFT122		Cranioectodermal dysplasia 1	Likely benign (Dec 21, 2021)	criteria provided, single submitter
Select item 218649118.	NM_052989.3(IFT122):c.1992+17C>T GRCh37: Chr3:129207257 GRCh38: Chr3:129488414	IFT122		Cranioectodermal dysplasia 1	Likely benign (Aug 24, 2022)	criteria provided, single submitter
Select item 218617319.	NM_052989.3(IFT122):c.2888A>G (p.Glu963Gly) GRCh37: Chr3:129231156 GRCh38: Chr3:129512313	IFT122	E852G, E754G, E886G, E905G, E945G, E956G, E963G, E1014G, E813G, E904G, E964G, E835G, E853G, E887G	Cranioectodermal dysplasia 1	Uncertain significance (Dec 20, 2021)	criteria provided, single submitter
Select item 218524520.	NM_052989.3(IFT122):c.1892A>G (p.Lys631Arg) GRCh37: Chr3:129207140 GRCh38: Chr3:129488297	IFT122	K422R, K631R, K572R, K481R, K520R, K623R, K682R	Cranioectodermal dysplasia 1	Uncertain significance (Jun 4, 2022)	criteria provided, single submitter
Select item 218422121.	NM_052989.3(IFT122):c.3509G>A (p.Arg1170Gln) GRCh37: Chr3:129238448 GRCh38: Chr3:129519605	IFT122	R1042Q, R1112Q, R1152Q, R1163Q, R1171Q, R1020Q, R1059Q, R1221Q, R961Q, R1093Q, R1111Q, R1060Q, R1094Q, R1170Q	Cranioectodermal dysplasia 1	Uncertain significance (May 6, 2022)	criteria provided, single submitter
Select item 218368522.	NM_052989.3(IFT122):c.42T>C (p.Cys14=) GRCh37: Chr3:129168714 GRCh38: Chr3:129449871	IFT122		Cranioectodermal dysplasia 1	Uncertain significance (Apr 3, 2022)	criteria provided, single submitter
Select item 218268923.	NM_052989.3(IFT122):c.2894C>T (p.Pro965Leu) GRCh37: Chr3:129231162 GRCh38: Chr3:129512319	IFT122	P888L, P907L, P1016L, P966L, P815L, P854L, P889L, P947L, P958L, P756L, P837L, P855L, P906L, P965L	Cranioectodermal dysplasia 1	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 218165324.	NM_052989.3(IFT122):c.2208+7T>C GRCh37: Chr3:129214457 GRCh38: Chr3:129495614	IFT122, LOC126806810		Cranioectodermal dysplasia 1	Likely benign (May 25, 2022)	criteria provided, single submitter
Select item 218163425.	NM_052989.3(IFT122):c.1851+3A>G GRCh37: Chr3:129202528 GRCh38: Chr3:129483685	IFT122		Cranioectodermal dysplasia 1	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 217999626.	NM_052989.3(IFT122):c.3027C>A (p.Leu1009=) GRCh37: Chr3:129233271 GRCh38: Chr3:129514428	IFT122		Cranioectodermal dysplasia 1	Likely benign (Jun 24, 2022)	criteria provided, single submitter
Select item 217994727.	NM_052989.3(IFT122):c.299C>T (p.Ser100Phe) GRCh37: Chr3:129180097 GRCh38: Chr3:129461254	IFT122	S100F, S151F	Cranioectodermal dysplasia 1	Uncertain significance (Jun 23, 2022)	criteria provided, single submitter
Select item 217772828.	NM_052989.3(IFT122):c.194-17T>C GRCh37: Chr3:129177425 GRCh38: Chr3:129458582	IFT122		Cranioectodermal dysplasia 1	Likely benign (Feb 5, 2022)	criteria provided, single submitter
Select item 217102029.	NM_052989.3(IFT122):c.817A>G (p.Ile273Val) GRCh37: Chr3:129195158 GRCh38: Chr3:129476315	IFT122	I265V, I324V, I123V, I273V, I64V, I162V, I214V	Cranioectodermal dysplasia 1	Uncertain significance (Apr 6, 2022)	criteria provided, single submitter
Select item 216973430.	NM_052989.3(IFT122):c.108+10dup GRCh37: Chr3:129168786-129168787 GRCh38: Chr3:129449943-129449944	IFT122		Cranioectodermal dysplasia 1	Benign (Jan 24, 2022)	criteria provided, single submitter
Select item 216596031.	NM_052989.3(IFT122):c.2430G>A (p.Leu810=) GRCh37: Chr3:129221608 GRCh38: Chr3:129502765	IFT122		Cranioectodermal dysplasia 1	Likely benign (Mar 9, 2022)	criteria provided, single submitter
Select item 216594532.	NM_052989.3(IFT122):c.1008+3A>C GRCh37: Chr3:129195352 GRCh38: Chr3:129476509	IFT122		Cranioectodermal dysplasia 1	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 216580833.	NM_052989.3(IFT122):c.2226A>T (p.Gly742=) GRCh37: Chr3:129218762 GRCh38: Chr3:129499919	IFT122		Cranioectodermal dysplasia 1	Likely benign (May 16, 2022)	criteria provided, single submitter
Select item 216463334.	NM_052989.3(IFT122):c.2886G>A (p.Thr962=) GRCh37: Chr3:129226605 GRCh38: Chr3:129507762	IFT122		Cranioectodermal dysplasia 1	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 216306835.	NM_052989.3(IFT122):c.612T>C (p.Asp204=) GRCh37: Chr3:129185781 GRCh38: Chr3:129466938	IFT122		Cranioectodermal dysplasia 1	Likely benign (Mar 19, 2022)	criteria provided, single submitter
Select item 216099936.	NM_052989.3(IFT122):c.3266-11A>G GRCh37: Chr3:129236301 GRCh38: Chr3:129517458	IFT122		Cranioectodermal dysplasia 1	Likely benign (Oct 22, 2022)	criteria provided, single submitter
Select item 215905237.	NM_052989.3(IFT122):c.2601G>A (p.Pro867=) GRCh37: Chr3:129223215 GRCh38: Chr3:129504372	IFT122		Cranioectodermal dysplasia 1	Likely benign (Mar 23, 2022)	criteria provided, single submitter
Select item 215900638.	NM_052989.3(IFT122):c.2548-11C>T GRCh37: Chr3:129223151 GRCh38: Chr3:129504308	IFT122		Cranioectodermal dysplasia 1	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 215746839.	NM_052989.3(IFT122):c.807T>G (p.Ser269Arg) GRCh37: Chr3:129188251 GRCh38: Chr3:129469408	IFT122	S269R, S210R, S261R, S60R, S119R, S158R, S320R	Cranioectodermal dysplasia 1	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 215686140.	NM_052989.3(IFT122):c.1198C>T (p.Arg400Ter) GRCh37: Chr3:129196909 GRCh38: Chr3:129478066	IFT122	R250, R191, R289, R341, R392, R400, R451*	Cranioectodermal dysplasia 1	Pathogenic (Mar 15, 2022)	criteria provided, single submitter
Select item 215538641.	NM_052989.3(IFT122):c.757A>G (p.Ile253Val) GRCh37: Chr3:129188201 GRCh38: Chr3:129469358	IFT122	I253V, I304V, I142V, I245V, I44V, I103V, I194V	Cranioectodermal dysplasia 1	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 214977242.	NM_052989.3(IFT122):c.231TAT[1] (p.Ile79del) GRCh37: Chr3:129177478-129177480 GRCh38: Chr3:129458635-129458637	IFT122	I79del	Cranioectodermal dysplasia 1	Uncertain significance (Feb 10, 2022)	criteria provided, single submitter
Select item 214918043.	NM_052989.3(IFT122):c.3265+5G>A GRCh37: Chr3:129234447 GRCh38: Chr3:129515604	IFT122		Cranioectodermal dysplasia 1	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 214907544.	NM_052989.3(IFT122):c.2063G>A (p.Gly688Glu) GRCh37: Chr3:129214305 GRCh38: Chr3:129495462	IFT122, LOC126806810	G479E, G538E, G577E, G611E, G680E, G688E, G739E, G559E, G629E, G670E	Cranioectodermal dysplasia 1	Uncertain significance (Apr 4, 2022)	criteria provided, single submitter
Select item 214781945.	NM_052989.3(IFT122):c.2987+17C>G GRCh37: Chr3:129231272 GRCh38: Chr3:129512429	IFT122		Cranioectodermal dysplasia 1	Likely benign (Mar 23, 2022)	criteria provided, single submitter
Select item 214569246.	NM_052989.3(IFT122):c.476G>A (p.Arg159Gln) GRCh37: Chr3:129183537 GRCh38: Chr3:129464694	IFT122	R9Q, R159Q, R210Q, R107Q	Cranioectodermal dysplasia 1	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 214483947.	NM_052989.3(IFT122):c.1511A>G (p.Asn504Ser) GRCh37: Chr3:129200395 GRCh38: Chr3:129481552	IFT122	N295S, N504S, N354S, N445S, N555S, N393S, N496S	Cranioectodermal dysplasia 1	Uncertain significance (Feb 21, 2022)	criteria provided, single submitter
Select item 214003648.	NM_052989.3(IFT122):c.3316G>A (p.Glu1106Lys) GRCh37: Chr3:129236362 GRCh38: Chr3:129517519	IFT122	E1047K, E897K, E1088K, E1106K, E995K, E1029K, E1030K, E1048K, E1099K, E996K, E1107K, E1157K, E956K, E978K	Cranioectodermal dysplasia 1	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 213956749.	NM_052989.3(IFT122):c.273-245C>T GRCh37: Chr3:129179826 GRCh38: Chr3:129460983	IFT122		Cranioectodermal dysplasia 1	Likely benign (Sep 30, 2022)	criteria provided, single submitter
Select item 213280850.	NM_052989.3(IFT122):c.127G>A (p.Gly43Ser) GRCh37: Chr3:129170775 GRCh38: Chr3:129451932	IFT122	G43S	Cranioectodermal dysplasia 1	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 212256651.	NM_052989.3(IFT122):c.1411T>G (p.Ser471Ala) GRCh37: Chr3:129198688 GRCh38: Chr3:129479845	IFT122	S321A, S463A, S522A, S360A, S412A, S262A, S471A	Cranioectodermal dysplasia 1	Uncertain significance (Apr 26, 2022)	criteria provided, single submitter
Select item 212021452.	NM_052989.3(IFT122):c.3431_3432delinsCT (p.Ile1144Thr) GRCh37: Chr3:129237989-129237990 GRCh38: Chr3:129519146-129519147	IFT122	I1086T, I1145T, I1195T, I935T, I1033T, I1126T, I1034T, I1067T, I1137T, I1144T, I994T, I1016T, I1068T, I1085T	Cranioectodermal dysplasia 1	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 211992853.	NM_052989.3(IFT122):c.3381T>C (p.Ile1127=) GRCh37: Chr3:129236427 GRCh38: Chr3:129517584	IFT122		Cranioectodermal dysplasia 1	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 211088554.	NM_052989.3(IFT122):c.2835C>G (p.Phe945Leu) GRCh37: Chr3:129226554 GRCh38: Chr3:129507711	IFT122	F736L, F835L, F869L, F887L, F996L, F795L, F817L, F886L, F927L, F946L, F834L, F868L, F938L, F945L	Cranioectodermal dysplasia 1	Uncertain significance (Mar 13, 2022)	criteria provided, single submitter
Select item 211048355.	NM_052989.3(IFT122):c.1600G>A (p.Glu534Lys) GRCh37: Chr3:129200484 GRCh38: Chr3:129481641	IFT122	E423K, E585K, E325K, E384K, E475K, E526K, E534K	Cranioectodermal dysplasia 1	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 210471356.	NM_052989.3(IFT122):c.2683G>A (p.Val895Ile) GRCh37: Chr3:129225284 GRCh38: Chr3:129506441	IFT122	V818I, V887I, V745I, V784I, V836I, V895I, V946I, V686I, V766I, V877I	Cranioectodermal dysplasia 1	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 210418857.	NM_052989.3(IFT122):c.1793A>G (p.Asn598Ser) GRCh37: Chr3:129202467 GRCh38: Chr3:129483624	IFT122	N487S, N539S, N389S, N448S, N590S, N649S, N598S	Cranioectodermal dysplasia 1	Uncertain significance (Jun 29, 2022)	criteria provided, single submitter
Select item 209804258.	NM_052989.3(IFT122):c.356G>A (p.Trp119Ter) GRCh37: Chr3:129182409 GRCh38: Chr3:129463566	IFT122	W119, W170, W67*	Cranioectodermal dysplasia 1	Pathogenic (Jun 23, 2022)	criteria provided, single submitter
Select item 209765759.	NM_052989.3(IFT122):c.348T>C (p.Phe116=) GRCh37: Chr3:129180146 GRCh38: Chr3:129461303	IFT122		Cranioectodermal dysplasia 1	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 209452260.	NM_052989.3(IFT122):c.3563del (p.Pro1188fs) GRCh37: Chr3:129238498 GRCh38: Chr3:129519655	IFT122	P1181fs, P1129fs, P979fs, P1078fs, P1239fs, P1038fs, P1188fs	Cranioectodermal dysplasia 1	Pathogenic (Feb 8, 2022)	criteria provided, single submitter
Select item 209024361.	NM_052989.3(IFT122):c.109-14G>C GRCh37: Chr3:129170743 GRCh38: Chr3:129451900	IFT122		Cranioectodermal dysplasia 1	Likely benign (Jan 27, 2022)	criteria provided, single submitter
Select item 208643962.	NM_052989.3(IFT122):c.1903C>G (p.Gln635Glu) GRCh37: Chr3:129207151 GRCh38: Chr3:129488308	IFT122	Q576E, Q627E, Q485E, Q686E, Q426E, Q524E, Q635E	Cranioectodermal dysplasia 1	Uncertain significance (Jan 16, 2022)	criteria provided, single submitter
Select item 208456663.	NM_052989.3(IFT122):c.2943G>A (p.Leu981=) GRCh37: Chr3:129231211 GRCh38: Chr3:129512368	IFT122		Cranioectodermal dysplasia 1	Likely benign (Mar 11, 2022)	criteria provided, single submitter
Select item 208407264.	NM_052989.3(IFT122):c.2970C>T (p.Pro990=) GRCh37: Chr3:129231238 GRCh38: Chr3:129512395	IFT122		Cranioectodermal dysplasia 1	Likely benign (Mar 19, 2022)	criteria provided, single submitter
Select item 208219065.	NM_052989.3(IFT122):c.1852-13T>C GRCh37: Chr3:129207087 GRCh38: Chr3:129488244	IFT122		Cranioectodermal dysplasia 1	Likely benign (Jul 29, 2022)	criteria provided, single submitter
Select item 208043566.	NM_052989.3(IFT122):c.2913T>C (p.Pro971=) GRCh37: Chr3:129231181 GRCh38: Chr3:129512338	IFT122		Cranioectodermal dysplasia 1	Likely benign (Jul 21, 2022)	criteria provided, single submitter
Select item 208040167.	NM_052989.3(IFT122):c.2972C>T (p.Ser991Leu) GRCh37: Chr3:129231240 GRCh38: Chr3:129512397	IFT122	S841L, S984L, S863L, S881L, S932L, S992L, S933L, S973L, S991L, S1042L, S782L, S880L, S914L, S915L	Cranioectodermal dysplasia 1	Uncertain significance (Oct 4, 2022)	criteria provided, single submitter
Select item 208031368.	NM_052989.3(IFT122):c.2903T>G (p.Val968Gly) GRCh37: Chr3:129231171 GRCh38: Chr3:129512328	IFT122	V840G, V910G, V969G, V818G, V891G, V892G, V909G, V961G, V1019G, V759G, V950G, V857G, V858G, V968G	Cranioectodermal dysplasia 1	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 208002769.	NM_052989.3(IFT122):c.2392C>T (p.Arg798Cys) GRCh37: Chr3:129221570 GRCh38: Chr3:129502727	IFT122	R849C, R687C, R721C, R739C, R790C, R780C, R589C, R648C, R669C, R798C	Cranioectodermal dysplasia 1, Inborn genetic diseases	Uncertain significance (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 207935070.	NM_052989.3(IFT122):c.521G>C (p.Gly174Ala) GRCh37: Chr3:129183582 GRCh38: Chr3:129464739	IFT122	G174A, G225A, G24A, G122A	Cranioectodermal dysplasia 1	Uncertain significance (Jun 28, 2022)	criteria provided, single submitter
Select item 207924271.	NM_052989.3(IFT122):c.350-9G>A GRCh37: Chr3:129182394 GRCh38: Chr3:129463551	IFT122		Cranioectodermal dysplasia 1	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 207795272.	NM_052989.3(IFT122):c.3124A>G (p.Ile1042Val) GRCh37: Chr3:129233368 GRCh38: Chr3:129514525	IFT122	I1042V, I1043V, I833V, I932V, I966V, I892V, I983V, I1024V, I914V, I984V, I1035V, I1093V, I931V, I965V	Cranioectodermal dysplasia 1	Uncertain significance (Jan 6, 2022)	criteria provided, single submitter
Select item 207758273.	NM_052989.3(IFT122):c.2309T>G (p.Met770Arg) GRCh37: Chr3:129218845 GRCh38: Chr3:129500002	IFT122	M620R, M659R, M693R, M561R, M752R, M762R, M770R, M641R, M711R, M821R	Cranioectodermal dysplasia 1	Uncertain significance (Nov 26, 2021)	criteria provided, single submitter
Select item 207654174.	NM_052989.3(IFT122):c.760C>A (p.Leu254Met) GRCh37: Chr3:129188204 GRCh38: Chr3:129469361	IFT122	L104M, L195M, L254M, L246M, L45M, L143M, L305M	Cranioectodermal dysplasia 1	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 207502575.	NM_052989.3(IFT122):c.2792-13C>T GRCh37: Chr3:129226498 GRCh38: Chr3:129507655	IFT122		Cranioectodermal dysplasia 1	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 207421876.	NM_052989.3(IFT122):c.458A>G (p.Asn153Ser) GRCh37: Chr3:129183519 GRCh38: Chr3:129464676	IFT122	N153S, N204S, N101S, N3S	Cranioectodermal dysplasia 1	Uncertain significance (Feb 17, 2022)	criteria provided, single submitter
Select item 207358877.	NM_052989.3(IFT122):c.3553C>T (p.Arg1185Ter) GRCh37: Chr3:129238492 GRCh38: Chr3:129519649	IFT122	R1035, R1057, R1126, R1167, R1185, R1074, R1236, R1075, R1108, R1127, R1178, R1186, R976, R1109	Cranioectodermal dysplasia 1	Pathogenic (Jul 30, 2022)	criteria provided, single submitter
Select item 207328878.	NM_052989.3(IFT122):c.1828A>G (p.Ile610Val) GRCh37: Chr3:129202502 GRCh38: Chr3:129483659	IFT122	I661V, I401V, I499V, I551V, I610V, I460V, I602V	Cranioectodermal dysplasia 1	Uncertain significance (Mar 22, 2022)	criteria provided, single submitter
Select item 207141279.	NM_052989.3(IFT122):c.1331A>G (p.Asn444Ser) GRCh37: Chr3:129197042 GRCh38: Chr3:129478199	IFT122	N333S, N444S, N235S, N294S, N495S, N385S, N436S	Cranioectodermal dysplasia 1	Uncertain significance (Feb 18, 2022)	criteria provided, single submitter
Select item 206427680.	NM_052989.3(IFT122):c.3471+7G>T GRCh37: Chr3:129238036 GRCh38: Chr3:129519193	IFT122		Cranioectodermal dysplasia 1	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 206251881.	NM_052989.3(IFT122):c.1489-17C>T GRCh37: Chr3:129200356 GRCh38: Chr3:129481513	IFT122		Cranioectodermal dysplasia 1	Likely benign (Sep 24, 2022)	criteria provided, single submitter
Select item 206215982.	NM_052989.3(IFT122):c.2548-18A>G GRCh37: Chr3:129223144 GRCh38: Chr3:129504301	IFT122		Cranioectodermal dysplasia 1	Likely benign (Jul 21, 2022)	criteria provided, single submitter
Select item 206012883.	NM_052989.3(IFT122):c.2645A>G (p.Gln882Arg) GRCh37: Chr3:129223259 GRCh38: Chr3:129504416	IFT122	Q673R, Q805R, Q823R, Q874R, Q933R, Q732R, Q753R, Q771R, Q864R, Q882R	Cranioectodermal dysplasia 1	Uncertain significance (May 31, 2022)	criteria provided, single submitter
Select item 205668984.	NM_052989.3(IFT122):c.1726C>T (p.Leu576Phe) GRCh37: Chr3:129202400 GRCh38: Chr3:129483557	IFT122	L465F, L517F, L367F, L627F, L426F, L568F, L576F	Cranioectodermal dysplasia 1	Uncertain significance (Apr 14, 2022)	criteria provided, single submitter
Select item 205498785.	NM_052989.3(IFT122):c.1959G>A (p.Ala653=) GRCh37: Chr3:129207207 GRCh38: Chr3:129488364	IFT122		Cranioectodermal dysplasia 1	Likely benign (Feb 22, 2022)	criteria provided, single submitter
Select item 205494386.	NM_052989.3(IFT122):c.535A>G (p.Ile179Val) GRCh37: Chr3:129183596 GRCh38: Chr3:129464753	IFT122	I127V, I230V, I29V, I179V	Cranioectodermal dysplasia 1	Uncertain significance (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 205372387.	NM_052989.3(IFT122):c.928G>A (p.Asp310Asn) GRCh37: Chr3:129195269 GRCh38: Chr3:129476426	IFT122	D310N, D361N, D160N, D251N, D302N, D101N, D199N	Cranioectodermal dysplasia 1	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 205363888.	NM_052989.3(IFT122):c.1992G>A (p.Lys664=) GRCh37: Chr3:129207240 GRCh38: Chr3:129488397	IFT122		Cranioectodermal dysplasia 1	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 205361689.	NM_052989.3(IFT122):c.2331C>T (p.His777=) GRCh37: Chr3:129218867 GRCh38: Chr3:129500024	IFT122		Cranioectodermal dysplasia 1	Likely benign (May 5, 2022)	criteria provided, single submitter
Select item 205238490.	NM_052989.3(IFT122):c.2777T>C (p.Leu926Pro) GRCh37: Chr3:129225378 GRCh38: Chr3:129506535	IFT122	L776P, L815P, L849P, L867P, L908P, L926P, L918P, L977P, L717P, L797P	Cranioectodermal dysplasia 1	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 205185691.	NM_052989.3(IFT122):c.273-313G>C GRCh37: Chr3:129179758 GRCh38: Chr3:129460915	IFT122	V112L	Cranioectodermal dysplasia 1, Inborn genetic diseases	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 205076692.	NM_052989.3(IFT122):c.2087T>G (p.Leu696Arg) GRCh37: Chr3:129214329 GRCh38: Chr3:129495486	IFT122, LOC126806810	L546R, L688R, L487R, L585R, L619R, L637R, L696R, L678R, L567R, L747R	Cranioectodermal dysplasia 1	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 204809693.	NM_052989.3(IFT122):c.1659A>G (p.Pro553=) GRCh37: Chr3:129202333 GRCh38: Chr3:129483490	IFT122		Cranioectodermal dysplasia 1	Likely benign (Feb 5, 2022)	criteria provided, single submitter
Select item 204807594.	NM_052989.3(IFT122):c.1394G>A (p.Arg465Gln) GRCh37: Chr3:129198671 GRCh38: Chr3:129479828	IFT122	R465Q, R457Q, R354Q, R406Q, R256Q, R315Q, R516Q	Inborn genetic diseases, Cranioectodermal dysplasia 1	Uncertain significance (May 4, 2023)	criteria provided, multiple submitters, no conflicts
Select item 204807195.	NM_052989.3(IFT122):c.3154-15G>T GRCh37: Chr3:129234316 GRCh38: Chr3:129515473	IFT122		Cranioectodermal dysplasia 1	Likely benign (Sep 14, 2022)	criteria provided, single submitter
Select item 204801096.	NM_052989.3(IFT122):c.2388C>T (p.Ile796=) GRCh37: Chr3:129221566 GRCh38: Chr3:129502723	IFT122		Cranioectodermal dysplasia 1	Likely benign (Feb 8, 2022)	criteria provided, single submitter
Select item 204641397.	NM_052989.3(IFT122):c.3490G>A (p.Val1164Met) GRCh37: Chr3:129238429 GRCh38: Chr3:129519586	IFT122	V1053M, V1157M, V955M, V1106M, V1164M, V1165M, V1014M, V1146M, V1036M, V1054M, V1087M, V1088M, V1105M, V1215M	Cranioectodermal dysplasia 1	Uncertain significance (Jun 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 204406098.	NM_052989.3(IFT122):c.640A>G (p.Ile214Val) GRCh37: Chr3:129185809 GRCh38: Chr3:129466966	IFT122	I214V, I265V, I64V	Cranioectodermal dysplasia 1	Uncertain significance (Oct 29, 2022)	criteria provided, single submitter
Select item 204382099.	NM_052989.3(IFT122):c.3115A>G (p.Thr1039Ala) GRCh37: Chr3:129233359 GRCh38: Chr3:129514516	IFT122	T830A, T1032A, T1039A, T1040A, T962A, T980A, T1021A, T889A, T928A, T929A, T963A, T1090A, T911A, T981A	Cranioectodermal dysplasia 1	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 2043589100.	NM_052989.3(IFT122):c.2999T>G (p.Phe1000Cys) GRCh37: Chr3:129233243 GRCh38: Chr3:129514400	IFT122	F941C, F889C, F982C, F1000C, F1051C, F850C, F890C, F993C, F1001C, F791C, F872C, F923C, F924C, F942C	Cranioectodermal dysplasia 1	Uncertain significance (Mar 15, 2022)	criteria provided, single submitter

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