ClinVar for MedGen (Select 354620) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25034341.	NM_000346.4(SOX9):c.557_560del (p.Gln186fs) GRCh37: Chr17:70118982-70118985 GRCh38: Chr17:72122841-72122844	SOX9	Q186fs	Camptomelic dysplasia	Likely pathogenic (Apr 1, 2023)	no assertion criteria provided
Select item 24362662.	NM_000346.4(SOX9):c.904G>A (p.Gly302Ser) GRCh37: Chr17:70119902 GRCh38: Chr17:72123761	SOX9	G302S	Camptomelic dysplasia	Uncertain significance (Sep 19, 2022)	criteria provided, single submitter
Select item 24336743.	NM_000346.4(SOX9):c.829G>T (p.Glu277Ter) GRCh37: Chr17:70119827 GRCh38: Chr17:72123686	SOX9	E277*	Camptomelic dysplasia	Likely pathogenic (Jan 18, 2022)	criteria provided, single submitter
Select item 24205984.	NM_000346.4(SOX9):c.673G>A (p.Gly225Ser) GRCh37: Chr17:70119101 GRCh38: Chr17:72122960	SOX9	G225S	Camptomelic dysplasia	Benign (Nov 2, 2022)	criteria provided, single submitter
Select item 22024855.	NM_000346.4(SOX9):c.1381G>A (p.Gly461Ser) GRCh37: Chr17:70120379 GRCh38: Chr17:72124238	SOX9	G461S	Camptomelic dysplasia	Uncertain significance (Sep 23, 2022)	criteria provided, single submitter
Select item 21994146.	NM_000346.4(SOX9):c.432-10C>T GRCh37: Chr17:70118850 GRCh38: Chr17:72122709	SOX9		Camptomelic dysplasia	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 21916937.	NM_000346.4(SOX9):c.1146G>T (p.Leu382=) GRCh37: Chr17:70120144 GRCh38: Chr17:72124003	SOX9		Camptomelic dysplasia	Likely benign (Sep 16, 2022)	criteria provided, single submitter
Select item 21904648.	NM_000346.4(SOX9):c.640TCC[2] (p.Ser216del) GRCh37: Chr17:70119067-70119069 GRCh38: Chr17:72122926-72122928	SOX9	S216del	Camptomelic dysplasia	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 21859709.	NM_000346.4(SOX9):c.1401C>A (p.Thr467=) GRCh37: Chr17:70120399 GRCh38: Chr17:72124258	SOX9		Camptomelic dysplasia	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 218387110.	NM_000346.4(SOX9):c.16C>T (p.Pro6Ser) GRCh37: Chr17:70117548 GRCh38: Chr17:72121407	LOC108021846, SOX9	P6S	Inborn genetic diseases, Camptomelic dysplasia	Uncertain significance (Jul 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 218278811.	NM_000346.4(SOX9):c.914G>C (p.Gly305Ala) GRCh37: Chr17:70119912 GRCh38: Chr17:72123771	SOX9	G305A	Inborn genetic diseases, Camptomelic dysplasia	Conflicting interpretations of pathogenicity (Oct 27, 2022)	criteria provided, conflicting interpretations
Select item 217802312.	NM_000346.4(SOX9):c.782A>C (p.Glu261Ala) GRCh37: Chr17:70119780 GRCh38: Chr17:72123639	SOX9	E261A	Camptomelic dysplasia	Uncertain significance (May 14, 2022)	criteria provided, single submitter
Select item 217373813.	NM_000346.4(SOX9):c.1067C>T (p.Pro356Leu) GRCh37: Chr17:70120065 GRCh38: Chr17:72123924	SOX9	P356L	Camptomelic dysplasia	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 216466414.	NM_000346.4(SOX9):c.108G>T (p.Pro36=) GRCh37: Chr17:70117640 GRCh38: Chr17:72121499	LOC108021846, SOX9		Camptomelic dysplasia	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 215619615.	NM_000346.4(SOX9):c.1419G>A (p.Gln473=) GRCh37: Chr17:70120417 GRCh38: Chr17:72124276	SOX9		Camptomelic dysplasia	Benign (Dec 8, 2021)	criteria provided, single submitter
Select item 215493116.	NM_000346.4(SOX9):c.273G>T (p.Met91Ile) GRCh37: Chr17:70117805 GRCh38: Chr17:72121664	LOC108021846, SOX9	M91I	Camptomelic dysplasia	Uncertain significance (Sep 24, 2022)	criteria provided, single submitter
Select item 215075717.	NM_000346.4(SOX9):c.80C>A (p.Ser27Tyr) GRCh37: Chr17:70117612 GRCh38: Chr17:72121471	LOC108021846, SOX9	S27Y	Camptomelic dysplasia	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 214916418.	NM_000346.4(SOX9):c.440A>C (p.Asn147Thr) GRCh37: Chr17:70118868 GRCh38: Chr17:72122727	SOX9	N147T	Camptomelic dysplasia	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 214894319.	NM_000346.4(SOX9):c.1072_1083dup (p.Gln361_Pro362insAlaProProGln) GRCh37: Chr17:70120061-70120062 GRCh38: Chr17:72123920-72123921	SOX9		Camptomelic dysplasia	Uncertain significance (Jun 7, 2022)	criteria provided, single submitter
Select item 214699020.	NM_000346.4(SOX9):c.372G>C (p.Ala124=) GRCh37: Chr17:70117904 GRCh38: Chr17:72121763	LOC108021846, SOX9		Camptomelic dysplasia	Benign (Apr 9, 2022)	criteria provided, single submitter
Select item 214273621.	NM_000346.4(SOX9):c.903C>T (p.Asn301=) GRCh37: Chr17:70119901 GRCh38: Chr17:72123760	SOX9		Camptomelic dysplasia	Likely benign (Jul 14, 2022)	criteria provided, single submitter
Select item 214169422.	NM_000346.4(SOX9):c.1053G>A (p.Gln351=) GRCh37: Chr17:70120051 GRCh38: Chr17:72123910	SOX9		Camptomelic dysplasia	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 214030223.	NM_000346.4(SOX9):c.958G>A (p.Gly320Ser) GRCh37: Chr17:70119956 GRCh38: Chr17:72123815	SOX9	G320S	Camptomelic dysplasia	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 213893224.	NM_000346.4(SOX9):c.920C>T (p.Pro307Leu) GRCh37: Chr17:70119918 GRCh38: Chr17:72123777	SOX9	P307L	Camptomelic dysplasia	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 213810325.	NM_000346.4(SOX9):c.455G>C (p.Arg152Pro) GRCh37: Chr17:70118883 GRCh38: Chr17:72122742	SOX9	R152P	not provided, Camptomelic dysplasia	Pathogenic/Likely pathogenic (Sep 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 213810226.	NM_000346.4(SOX9):c.432-2A>C GRCh37: Chr17:70118858 GRCh38: Chr17:72122717	SOX9		Camptomelic dysplasia	Pathogenic (Feb 18, 2022)	criteria provided, single submitter
Select item 213731227.	NM_000346.4(SOX9):c.77T>A (p.Met26Lys) GRCh37: Chr17:70117609 GRCh38: Chr17:72121468	LOC108021846, SOX9	M26K	Camptomelic dysplasia	Uncertain significance (Dec 13, 2021)	criteria provided, single submitter
Select item 213713628.	NM_000346.4(SOX9):c.504C>T (p.Asp168=) GRCh37: Chr17:70118932 GRCh38: Chr17:72122791	SOX9		Camptomelic dysplasia	Benign (Aug 22, 2022)	criteria provided, single submitter
Select item 212414429.	NM_000346.4(SOX9):c.336C>T (p.Phe112=) GRCh37: Chr17:70117868 GRCh38: Chr17:72121727	LOC108021846, SOX9		Camptomelic dysplasia	Likely benign (Apr 10, 2022)	criteria provided, single submitter
Select item 211893230.	NM_000346.4(SOX9):c.1285A>G (p.Ser429Gly) GRCh37: Chr17:70120283 GRCh38: Chr17:72124142	SOX9	S429G	Camptomelic dysplasia	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 210682131.	NM_000346.4(SOX9):c.685+2T>C GRCh37: Chr17:70119115 GRCh38: Chr17:72122974	SOX9		Camptomelic dysplasia	Pathogenic (Mar 4, 2022)	criteria provided, single submitter
Select item 210157832.	NM_000346.4(SOX9):c.484C>T (p.Arg162Cys) GRCh37: Chr17:70118912 GRCh38: Chr17:72122771	SOX9	R162C	Camptomelic dysplasia	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter
Select item 209414233.	NM_000346.4(SOX9):c.989G>C (p.Ser330Thr) GRCh37: Chr17:70119987 GRCh38: Chr17:72123846	SOX9	S330T	Camptomelic dysplasia	Uncertain significance (Feb 6, 2022)	criteria provided, single submitter
Select item 209225934.	NM_000346.4(SOX9):c.868G>C (p.Asp290His) GRCh37: Chr17:70119866 GRCh38: Chr17:72123725	SOX9	D290H	Camptomelic dysplasia	Uncertain significance (Feb 7, 2022)	criteria provided, single submitter
Select item 208600335.	NM_000346.4(SOX9):c.1148_1156del (p.Thr383_Leu385del) GRCh37: Chr17:70120138-70120146 GRCh38: Chr17:72123997-72124005	SOX9		Camptomelic dysplasia	Uncertain significance (Oct 18, 2022)	criteria provided, single submitter
Select item 208142236.	NM_000346.4(SOX9):c.1099C>G (p.Pro367Ala) GRCh37: Chr17:70120097 GRCh38: Chr17:72123956	SOX9	P367A	Inborn genetic diseases, Camptomelic dysplasia	Conflicting interpretations of pathogenicity (Dec 28, 2022)	criteria provided, conflicting interpretations
Select item 207192937.	NM_000346.4(SOX9):c.431+9C>T GRCh37: Chr17:70117972 GRCh38: Chr17:72121831	LOC108021846, SOX9		Camptomelic dysplasia	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 206320838.	NM_000346.4(SOX9):c.1062G>C (p.Pro354=) GRCh37: Chr17:70120060 GRCh38: Chr17:72123919	SOX9		Camptomelic dysplasia	Likely benign (Sep 21, 2022)	criteria provided, single submitter
Select item 205538539.	NM_000346.4(SOX9):c.686-3C>T GRCh37: Chr17:70119681 GRCh38: Chr17:72123540	SOX9		Camptomelic dysplasia	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 204776640.	NM_000346.4(SOX9):c.515A>T (p.Tyr172Phe) GRCh37: Chr17:70118943 GRCh38: Chr17:72122802	SOX9	Y172F	Camptomelic dysplasia	Pathogenic (Jan 17, 2022)	criteria provided, single submitter
Select item 204179541.	NM_000346.4(SOX9):c.334_335del (p.Phe112fs) GRCh37: Chr17:70117866-70117867 GRCh38: Chr17:72121725-72121726	LOC108021846, SOX9	F112fs	Camptomelic dysplasia	Pathogenic (Dec 13, 2021)	criteria provided, single submitter
Select item 204029742.	NM_000346.4(SOX9):c.141G>A (p.Arg47=) GRCh37: Chr17:70117673 GRCh38: Chr17:72121532	LOC108021846, SOX9		Camptomelic dysplasia	Likely benign (Dec 18, 2021)	criteria provided, single submitter
Select item 204017343.	NM_000346.4(SOX9):c.683C>A (p.Ser228Ter) GRCh37: Chr17:70119111 GRCh38: Chr17:72122970	SOX9	S228*	Camptomelic dysplasia	Pathogenic (Aug 21, 2022)	criteria provided, single submitter
Select item 203104544.	NM_000346.4(SOX9):c.1080G>A (p.Pro360=) GRCh37: Chr17:70120078 GRCh38: Chr17:72123937	SOX9		Camptomelic dysplasia	Likely benign (Sep 17, 2022)	criteria provided, single submitter
Select item 202428945.	NM_000346.4(SOX9):c.797C>T (p.Pro266Leu) GRCh37: Chr17:70119795 GRCh38: Chr17:72123654	SOX9	P266L	Camptomelic dysplasia	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 201873646.	NM_000346.4(SOX9):c.1440C>T (p.Ile480=) GRCh37: Chr17:70120438 GRCh38: Chr17:72124297	SOX9		Camptomelic dysplasia	Likely benign (Aug 3, 2022)	criteria provided, single submitter
Select item 201071247.	NM_000346.4(SOX9):c.15C>G (p.Asp5Glu) GRCh37: Chr17:70117547 GRCh38: Chr17:72121406	LOC108021846, SOX9	D5E	Camptomelic dysplasia	Uncertain significance (Jun 25, 2022)	criteria provided, single submitter
Select item 200801048.	NC_000017.11:g.72122720_72122736del GRCh37: Chr17:70118859-70118875 GRCh38: Chr17:72122718-72122734	SOX9		Camptomelic dysplasia	Pathogenic (Jun 18, 2022)	criteria provided, single submitter
Select item 200715749.	NM_000346.4(SOX9):c.811C>G (p.Arg271Gly) GRCh37: Chr17:70119809 GRCh38: Chr17:72123668	SOX9	R271G	Camptomelic dysplasia	Uncertain significance (Jun 15, 2022)	criteria provided, single submitter
Select item 199509750.	NM_000346.4(SOX9):c.56C>T (p.Ser19Phe) GRCh37: Chr17:70117588 GRCh38: Chr17:72121447	LOC108021846, SOX9	S19F	Camptomelic dysplasia	Uncertain significance (May 16, 2022)	criteria provided, single submitter
Select item 199379451.	NM_000346.4(SOX9):c.658G>A (p.Glu220Lys) GRCh37: Chr17:70119086 GRCh38: Chr17:72122945	SOX9	E220K	Camptomelic dysplasia	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 199280352.	NM_000346.4(SOX9):c.337A>T (p.Met113Leu) GRCh37: Chr17:70117869 GRCh38: Chr17:72121728	LOC108021846, SOX9	M113L	Camptomelic dysplasia	Likely pathogenic (Aug 19, 2022)	criteria provided, single submitter
Select item 198376953.	NM_000346.4(SOX9):c.486C>G (p.Arg162=) GRCh37: Chr17:70118914 GRCh38: Chr17:72122773	SOX9		Camptomelic dysplasia	Likely benign (Jun 2, 2022)	criteria provided, single submitter
Select item 198075454.	NM_000346.4(SOX9):c.785G>T (p.Gly262Val) GRCh37: Chr17:70119783 GRCh38: Chr17:72123642	SOX9	G262V	Camptomelic dysplasia	Uncertain significance (Sep 22, 2022)	criteria provided, single submitter
Select item 197462855.	NM_000346.4(SOX9):c.592A>T (p.Ile198Phe) GRCh37: Chr17:70119020 GRCh38: Chr17:72122879	SOX9	I198F	Camptomelic dysplasia	Likely benign (Jan 6, 2022)	criteria provided, single submitter
Select item 196201156.	NM_000346.4(SOX9):c.681C>T (p.His227=) GRCh37: Chr17:70119109 GRCh38: Chr17:72122968	SOX9		Camptomelic dysplasia	Likely benign (Feb 8, 2022)	criteria provided, single submitter
Select item 193003257.	NM_000346.4(SOX9):c.138G>A (p.Thr46=) GRCh37: Chr17:70117670 GRCh38: Chr17:72121529	LOC108021846, SOX9		Camptomelic dysplasia	Likely benign (Mar 9, 2022)	criteria provided, single submitter
Select item 192875658.	NM_000346.4(SOX9):c.1096C>T (p.Pro366Ser) GRCh37: Chr17:70120094 GRCh38: Chr17:72123953	SOX9	P366S	Inborn genetic diseases, Camptomelic dysplasia	Uncertain significance (Aug 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 190601359.	NM_000346.4(SOX9):c.772C>T (p.Pro258Ser) GRCh37: Chr17:70119770 GRCh38: Chr17:72123629	SOX9	P258S	Camptomelic dysplasia	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 172199160.	NM_000346.4(SOX9):c.241C>G (p.Leu81Val) GRCh37: Chr17:70117773 GRCh38: Chr17:72121632	LOC108021846, SOX9	L81V	Camptomelic dysplasia	Uncertain significance (Oct 21, 2022)	criteria provided, single submitter
Select item 171775861.	NM_000346.4(SOX9):c.629A>G (p.Asp210Gly) GRCh37: Chr17:70119057 GRCh38: Chr17:72122916	SOX9	D210G	Camptomelic dysplasia	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 170996662.	NM_000346.4(SOX9):c.816_817insTCCGTGAC (p.Val273fs) GRCh37: Chr17:70119811-70119812 GRCh38: Chr17:72123670-72123671	SOX9	V273fs	Camptomelic dysplasia	Likely pathogenic (Aug 16, 2021)	criteria provided, single submitter
Select item 169929663.	NM_000346.4(SOX9):c.517A>T (p.Lys173Ter) GRCh37: Chr17:70118945 GRCh38: Chr17:72122804	SOX9	K173*	Camptomelic dysplasia	Pathogenic (Jun 24, 2022)	criteria provided, single submitter
Select item 169903764.	NM_000346.4(SOX9):c.218T>C (p.Ile73Thr) GRCh37: Chr17:70117750 GRCh38: Chr17:72121609	LOC108021846, SOX9	I73T	Camptomelic dysplasia	Pathogenic (Jun 24, 2022)	criteria provided, single submitter
Select item 164529665.	NM_000346.4(SOX9):c.1460C>T (p.Pro487Leu) GRCh37: Chr17:70120458 GRCh38: Chr17:72124317	SOX9	P487L	Camptomelic dysplasia	Likely benign (Feb 10, 2022)	criteria provided, single submitter
Select item 162968166.	NM_000346.4(SOX9):c.685+7dup GRCh37: Chr17:70119119-70119120 GRCh38: Chr17:72122978-72122979	SOX9		Camptomelic dysplasia	Likely benign (Nov 13, 2021)	criteria provided, single submitter
Select item 162729567.	NM_000346.4(SOX9):c.287A>G (p.Asn96Ser) GRCh37: Chr17:70117819 GRCh38: Chr17:72121678	LOC108021846, SOX9	N96S	Camptomelic dysplasia	Likely benign (Jan 13, 2022)	criteria provided, single submitter
Select item 162555868.	NM_000346.4(SOX9):c.1470G>A (p.Pro490=) GRCh37: Chr17:70120468 GRCh38: Chr17:72124327	SOX9		Camptomelic dysplasia	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 162503769.	NM_000346.4(SOX9):c.817G>C (p.Val273Leu) GRCh37: Chr17:70119815 GRCh38: Chr17:72123674	SOX9	V273L	Camptomelic dysplasia	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 162366370.	NM_000346.4(SOX9):c.657C>T (p.Ser219=) GRCh37: Chr17:70119085 GRCh38: Chr17:72122944	SOX9		Camptomelic dysplasia	Benign (Aug 10, 2022)	criteria provided, single submitter
Select item 160118871.	NM_000346.4(SOX9):c.477G>A (p.Glu159=) GRCh37: Chr17:70118905 GRCh38: Chr17:72122764	SOX9		Camptomelic dysplasia	Benign (Jun 13, 2022)	criteria provided, single submitter
Select item 159757972.	NM_000346.4(SOX9):c.55T>A (p.Ser19Thr) GRCh37: Chr17:70117587 GRCh38: Chr17:72121446	LOC108021846, SOX9	S19T	Camptomelic dysplasia	Likely benign (Jul 9, 2021)	criteria provided, single submitter
Select item 159640873.	NM_000346.4(SOX9):c.432-20C>A GRCh37: Chr17:70118840 GRCh38: Chr17:72122699	SOX9		Camptomelic dysplasia	Likely benign (Apr 25, 2021)	criteria provided, single submitter
Select item 159083874.	NM_000346.4(SOX9):c.1167G>A (p.Pro389=) GRCh37: Chr17:70120165 GRCh38: Chr17:72124024	SOX9		Camptomelic dysplasia	Likely benign (Feb 24, 2022)	criteria provided, single submitter
Select item 158662375.	NM_000346.4(SOX9):c.924C>T (p.Ala308=) GRCh37: Chr17:70119922 GRCh38: Chr17:72123781	SOX9		Camptomelic dysplasia	Likely benign (Apr 10, 2021)	criteria provided, single submitter
Select item 158282876.	NM_000346.4(SOX9):c.804C>A (p.Ile268=) GRCh37: Chr17:70119802 GRCh38: Chr17:72123661	SOX9		Camptomelic dysplasia	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 157969077.	NM_000346.4(SOX9):c.1169G>C (p.Gly390Ala) GRCh37: Chr17:70120167 GRCh38: Chr17:72124026	SOX9	G390A	Camptomelic dysplasia	Benign (Jul 19, 2022)	criteria provided, single submitter
Select item 157921078.	NM_000346.4(SOX9):c.156G>C (p.Thr52=) GRCh37: Chr17:70117688 GRCh38: Chr17:72121547	LOC108021846, SOX9		Camptomelic dysplasia	Likely benign (Sep 8, 2021)	criteria provided, single submitter
Select item 157408979.	NM_000346.4(SOX9):c.1281C>T (p.His427=) GRCh37: Chr17:70120279 GRCh38: Chr17:72124138	SOX9		Camptomelic dysplasia	Likely benign (Dec 26, 2020)	criteria provided, single submitter
Select item 157298480.	NM_000346.4(SOX9):c.984G>A (p.Pro328=) GRCh37: Chr17:70119982 GRCh38: Chr17:72123841	SOX9		Camptomelic dysplasia	Likely benign (Sep 5, 2022)	criteria provided, single submitter
Select item 156769481.	NM_000346.4(SOX9):c.591C>T (p.His197=) GRCh37: Chr17:70119019 GRCh38: Chr17:72122878	SOX9		Camptomelic dysplasia	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 156437382.	NM_000346.4(SOX9):c.991G>A (p.Ala331Thr) GRCh37: Chr17:70119989 GRCh38: Chr17:72123848	SOX9	A331T	Camptomelic dysplasia	Likely benign (Dec 15, 2021)	criteria provided, single submitter
Select item 156083383.	NM_000346.4(SOX9):c.685+12C>T GRCh37: Chr17:70119125 GRCh38: Chr17:72122984	SOX9		Camptomelic dysplasia	Likely benign (Feb 2, 2022)	criteria provided, single submitter
Select item 154637484.	NM_000346.4(SOX9):c.111G>T (p.Ser37=) GRCh37: Chr17:70117643 GRCh38: Chr17:72121502	LOC108021846, SOX9		Camptomelic dysplasia	Likely benign (Apr 14, 2021)	criteria provided, single submitter
Select item 154030185.	NM_000346.4(SOX9):c.739C>A (p.Pro247Thr) GRCh37: Chr17:70119737 GRCh38: Chr17:72123596	SOX9	P247T	Camptomelic dysplasia	Benign (Nov 21, 2021)	criteria provided, single submitter
Select item 153978186.	NM_000346.4(SOX9):c.714C>G (p.Pro238=) GRCh37: Chr17:70119712 GRCh38: Chr17:72123571	SOX9		Camptomelic dysplasia	Likely benign (Feb 25, 2021)	criteria provided, single submitter
Select item 152904787.	NM_000346.4(SOX9):c.1490A>G (p.His497Arg) GRCh37: Chr17:70120488 GRCh38: Chr17:72124347	SOX9	H497R	Camptomelic dysplasia	Likely benign (Aug 4, 2021)	criteria provided, single submitter
Select item 152795088.	NM_000346.4(SOX9):c.686-2A>G GRCh37: Chr17:70119682 GRCh38: Chr17:72123541	SOX9		Camptomelic dysplasia	Pathogenic (Jan 1, 2022)	criteria provided, single submitter
Select item 151484389.	NM_000346.4(SOX9):c.339G>A (p.Met113Ile) GRCh37: Chr17:70117871 GRCh38: Chr17:72121730	LOC108021846, SOX9	M113I	Camptomelic dysplasia	Likely pathogenic (Aug 27, 2021)	criteria provided, single submitter
Select item 150925490.	NM_000346.4(SOX9):c.935A>G (p.Gln312Arg) GRCh37: Chr17:70119933 GRCh38: Chr17:72123792	SOX9	Q312R	Camptomelic dysplasia	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 150804991.	NM_000346.4(SOX9):c.1433C>T (p.Thr478Ile) GRCh37: Chr17:70120431 GRCh38: Chr17:72124290	SOX9	T478I	Camptomelic dysplasia	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 150275292.	NM_000346.4(SOX9):c.436C>G (p.Leu146Val) GRCh37: Chr17:70118864 GRCh38: Chr17:72122723	SOX9	L146V	Camptomelic dysplasia	Uncertain significance (Nov 10, 2021)	criteria provided, single submitter
Select item 149740093.	NM_000346.4(SOX9):c.347C>T (p.Ala116Val) GRCh37: Chr17:70117879 GRCh38: Chr17:72121738	LOC108021846, SOX9	A116V	Camptomelic dysplasia	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 149145894.	NM_000346.4(SOX9):c.1076C>A (p.Pro359His) GRCh37: Chr17:70120074 GRCh38: Chr17:72123933	SOX9	P359H	Camptomelic dysplasia	Uncertain significance (Nov 18, 2021)	criteria provided, single submitter
Select item 148579495.	NM_000346.4(SOX9):c.508C>A (p.Pro170Thr) GRCh37: Chr17:70118936 GRCh38: Chr17:72122795	SOX9	P170T	Camptomelic dysplasia	Likely pathogenic (Nov 3, 2021)	criteria provided, single submitter
Select item 148376496.	NM_000346.4(SOX9):c.605C>G (p.Ala202Gly) GRCh37: Chr17:70119033 GRCh38: Chr17:72122892	SOX9	A202G	Camptomelic dysplasia	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 147008097.	NM_000346.4(SOX9):c.537G>A (p.Arg179=) GRCh37: Chr17:70118965 GRCh38: Chr17:72122824	SOX9		Camptomelic dysplasia	Likely benign (Jul 27, 2021)	criteria provided, single submitter
Select item 146954398.	NM_000346.4(SOX9):c.1504G>A (p.Val502Ile) GRCh37: Chr17:70120502 GRCh38: Chr17:72124361	SOX9	V502I	Camptomelic dysplasia	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 146302399.	NM_000346.4(SOX9):c.276G>A (p.Pro92=) GRCh37: Chr17:70117808 GRCh38: Chr17:72121667	LOC108021846, SOX9		Camptomelic dysplasia	Uncertain significance (Oct 7, 2021)	criteria provided, single submitter
Select item 1458092100.	NM_000346.4(SOX9):c.255_256del (p.Asp85fs) GRCh37: Chr17:70117787-70117788 GRCh38: Chr17:72121646-72121647	LOC108021846, SOX9	D85fs	Camptomelic dysplasia	Pathogenic (Jul 2, 2021)	criteria provided, single submitter

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