ClinVar for MedGen (Select 1666273) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24322031.	NM_021629.4(GNB4):c.431-2A>T GRCh37: Chr3:179131571 GRCh38: Chr3:179413783	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Uncertain significance (Nov 1, 2020)	criteria provided, single submitter
Select item 24266792.	NC_000003.11:g.(?_179119001)_(179143988_?)dup GRCh37: Chr3:179119001-179143988	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 21981513.	NM_021629.4(GNB4):c.268-15_268-11del GRCh37: Chr3:179132846-179132850 GRCh38: Chr3:179415058-179415062	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 21891254.	NM_021629.4(GNB4):c.636T>C (p.Asp212=) GRCh37: Chr3:179131263 GRCh38: Chr3:179413475	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Likely benign (Aug 24, 2022)	criteria provided, single submitter
Select item 21869465.	NM_021629.4(GNB4):c.917-20T>C GRCh37: Chr3:179119127 GRCh38: Chr3:179401339	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Likely benign (Apr 15, 2022)	criteria provided, single submitter
Select item 21786536.	NM_021629.4(GNB4):c.834C>T (p.Phe278=) GRCh37: Chr3:179123060 GRCh38: Chr3:179405272	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 21773227.	NM_021629.4(GNB4):c.74G>A (p.Cys25Tyr) GRCh37: Chr3:179138699 GRCh38: Chr3:179420911	GNB4	C25Y	Charcot-Marie-Tooth disease dominant intermediate F	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 21604278.	NM_021629.4(GNB4):c.35A>G (p.Glu12Gly) GRCh37: Chr3:179143954 GRCh38: Chr3:179426166	GNB4	E12G	Charcot-Marie-Tooth disease dominant intermediate F	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 21589389.	NM_021629.4(GNB4):c.917-5T>C GRCh37: Chr3:179119112 GRCh38: Chr3:179401324	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Uncertain significance (Oct 14, 2022)	criteria provided, single submitter
Select item 215754710.	NM_021629.4(GNB4):c.752G>A (p.Arg251Gln) GRCh37: Chr3:179123142 GRCh38: Chr3:179405354	GNB4	R251Q	Charcot-Marie-Tooth disease dominant intermediate F	Uncertain significance (May 8, 2022)	criteria provided, single submitter
Select item 214298911.	NM_021629.4(GNB4):c.204-3T>C GRCh37: Chr3:179134347 GRCh38: Chr3:179416559	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Uncertain significance (Feb 25, 2022)	criteria provided, single submitter
Select item 211939912.	NM_021629.4(GNB4):c.624C>T (p.Ser208=) GRCh37: Chr3:179131275 GRCh38: Chr3:179413487	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Likely benign (Mar 29, 2022)	criteria provided, single submitter
Select item 211740613.	NM_021629.4(GNB4):c.641G>A (p.Arg214Gln) GRCh37: Chr3:179131258 GRCh38: Chr3:179413470	GNB4	R214Q	Charcot-Marie-Tooth disease dominant intermediate F	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 208174414.	NM_021629.4(GNB4):c.431-13C>T GRCh37: Chr3:179131582 GRCh38: Chr3:179413794	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Likely benign (Sep 20, 2022)	criteria provided, single submitter
Select item 207842415.	NM_021629.4(GNB4):c.958G>T (p.Val320Leu) GRCh37: Chr3:179119066 GRCh38: Chr3:179401278	GNB4	V320L	Charcot-Marie-Tooth disease dominant intermediate F	Uncertain significance (Jan 19, 2022)	criteria provided, single submitter
Select item 206594516.	NM_021629.4(GNB4):c.96+17C>A GRCh37: Chr3:179138660 GRCh38: Chr3:179420872	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Likely benign (Apr 22, 2022)	criteria provided, single submitter
Select item 205964417.	NM_021629.4(GNB4):c.724G>A (p.Ala242Thr) GRCh37: Chr3:179123170 GRCh38: Chr3:179405382	GNB4	A242T	Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate F	Conflicting interpretations of pathogenicity (Sep 6, 2022)	criteria provided, conflicting interpretations
Select item 205888918.	NM_021629.4(GNB4):c.783A>G (p.Leu261=) GRCh37: Chr3:179123111 GRCh38: Chr3:179405323	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Likely benign (Jul 11, 2022)	criteria provided, single submitter
Select item 205200119.	NM_021629.4(GNB4):c.135G>A (p.Met45Ile) GRCh37: Chr3:179137255 GRCh38: Chr3:179419467	GNB4	M45I	Charcot-Marie-Tooth disease dominant intermediate F	Uncertain significance (Aug 26, 2022)	criteria provided, single submitter
Select item 203936720.	NM_021629.4(GNB4):c.368T>C (p.Ile123Thr) GRCh37: Chr3:179132735 GRCh38: Chr3:179414947	GNB4	I123T	Charcot-Marie-Tooth disease dominant intermediate F	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 201990821.	NM_021629.4(GNB4):c.267+20C>A GRCh37: Chr3:179134261 GRCh38: Chr3:179416473	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Likely benign (Jul 27, 2022)	criteria provided, single submitter
Select item 198323522.	NM_021629.4(GNB4):c.1020T>C (p.Asn340=) GRCh37: Chr3:179119004 GRCh38: Chr3:179401216	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Likely benign (Jul 1, 2022)	criteria provided, single submitter
Select item 196628723.	NM_021629.4(GNB4):c.482C>A (p.Ser161Ter) GRCh37: Chr3:179131518 GRCh38: Chr3:179413730	GNB4	S161*	Charcot-Marie-Tooth disease dominant intermediate F	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 194542124.	NM_021629.4(GNB4):c.530C>A (p.Thr177Asn) GRCh37: Chr3:179131369 GRCh38: Chr3:179413581	GNB4	T177N	Charcot-Marie-Tooth disease dominant intermediate F	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 193557425.	NM_021629.4(GNB4):c.919G>T (p.Val307Phe) GRCh37: Chr3:179119105 GRCh38: Chr3:179401317	GNB4	V307F	Charcot-Marie-Tooth disease dominant intermediate F	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 192354026.	NM_021629.4(GNB4):c.201C>T (p.Ser67=) GRCh37: Chr3:179137189 GRCh38: Chr3:179419401	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Uncertain significance (Aug 4, 2022)	criteria provided, single submitter
Select item 191523427.	NM_021629.4(GNB4):c.863G>C (p.Gly288Ala) GRCh37: Chr3:179123031 GRCh38: Chr3:179405243	GNB4	G288A	Charcot-Marie-Tooth disease dominant intermediate F	Uncertain significance (Jun 21, 2022)	criteria provided, single submitter
Select item 191421528.	NM_021629.4(GNB4):c.917-15G>C GRCh37: Chr3:179119122 GRCh38: Chr3:179401334	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Likely benign (Jan 11, 2022)	criteria provided, single submitter
Select item 191214229.	NM_021629.4(GNB4):c.789G>A (p.Leu263=) GRCh37: Chr3:179123105 GRCh38: Chr3:179405317	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Likely benign (Feb 9, 2022)	criteria provided, single submitter
Select item 190992930.	NM_021629.4(GNB4):c.957T>G (p.Gly319=) GRCh37: Chr3:179119067 GRCh38: Chr3:179401279	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Likely benign (Jun 20, 2022)	criteria provided, single submitter
Select item 190626631.	NM_021629.4(GNB4):c.402A>G (p.Arg134=) GRCh37: Chr3:179132701 GRCh38: Chr3:179414913	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 180580632.	NM_021629.4(GNB4):c.834C>A (p.Phe278Leu) GRCh37: Chr3:179123060 GRCh38: Chr3:179405272	GNB4	F278L	Charcot-Marie-Tooth disease dominant intermediate F	Uncertain significance (May 21, 2020)	criteria provided, single submitter
Select item 171898333.	NM_021629.4(GNB4):c.73T>G (p.Cys25Gly) GRCh37: Chr3:179138700 GRCh38: Chr3:179420912	GNB4	C25G	Charcot-Marie-Tooth disease dominant intermediate F	Uncertain significance (Sep 17, 2022)	criteria provided, single submitter
Select item 167486934.	NM_021629.4(GNB4):c.57+19A>G GRCh37: Chr3:179143913 GRCh38: Chr3:179426125	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Likely benign (Nov 11, 2021)	criteria provided, single submitter
Select item 166312435.	NM_021629.4(GNB4):c.57+18C>T GRCh37: Chr3:179143914 GRCh38: Chr3:179426126	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Likely benign (Oct 26, 2022)	criteria provided, single submitter
Select item 165004236.	NM_021629.4(GNB4):c.432G>A (p.Gly144=) GRCh37: Chr3:179131568 GRCh38: Chr3:179413780	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Likely benign (Mar 27, 2022)	criteria provided, single submitter
Select item 164648337.	NM_021629.4(GNB4):c.203+13C>G GRCh37: Chr3:179137174 GRCh38: Chr3:179419386	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Benign (Oct 7, 2022)	criteria provided, single submitter
Select item 163865438.	NM_021629.4(GNB4):c.700-18T>G GRCh37: Chr3:179123212 GRCh38: Chr3:179405424	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Likely benign (Sep 25, 2021)	criteria provided, single submitter
Select item 163373239.	NM_021629.4(GNB4):c.268-16G>C GRCh37: Chr3:179132851 GRCh38: Chr3:179415063	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Likely benign (May 13, 2022)	criteria provided, single submitter
Select item 163100440.	NM_021629.4(GNB4):c.723C>T (p.Phe241=) GRCh37: Chr3:179123171 GRCh38: Chr3:179405383	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Likely benign (Jun 3, 2021)	criteria provided, single submitter
Select item 163043441.	NM_021629.4(GNB4):c.917-15G>T GRCh37: Chr3:179119122 GRCh38: Chr3:179401334	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Likely benign (Aug 24, 2021)	criteria provided, single submitter
Select item 160872942.	NM_021629.4(GNB4):c.96+17_96+20del GRCh37: Chr3:179138657-179138660 GRCh38: Chr3:179420869-179420872	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Likely benign (Oct 26, 2022)	criteria provided, single submitter
Select item 160750143.	NM_021629.4(GNB4):c.87G>A (p.Thr29=) GRCh37: Chr3:179138686 GRCh38: Chr3:179420898	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Likely benign (Mar 7, 2021)	criteria provided, single submitter
Select item 160312944.	NM_021629.4(GNB4):c.699+14A>G GRCh37: Chr3:179131186 GRCh38: Chr3:179413398	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Likely benign (Sep 5, 2021)	criteria provided, single submitter
Select item 160157645.	NM_021629.4(GNB4):c.430+7T>G GRCh37: Chr3:179132666 GRCh38: Chr3:179414878	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Benign (Aug 27, 2021)	criteria provided, single submitter
Select item 160030246.	NM_021629.4(GNB4):c.-42-410T>A GRCh37: Chr3:179144440 GRCh38: Chr3:179426652	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Benign (Nov 1, 2022)	criteria provided, single submitter
Select item 159192947.	NM_021629.4(GNB4):c.97-14G>A GRCh37: Chr3:179137307 GRCh38: Chr3:179419519	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Likely benign (Oct 20, 2022)	criteria provided, single submitter
Select item 157963248.	NM_021629.4(GNB4):c.916+17A>C GRCh37: Chr3:179122961 GRCh38: Chr3:179405173	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Likely benign (Aug 22, 2021)	criteria provided, single submitter
Select item 155417849.	NM_021629.4(GNB4):c.700-18del GRCh37: Chr3:179123212 GRCh38: Chr3:179405424	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 155055950.	NM_021629.4(GNB4):c.917-19T>C GRCh37: Chr3:179119126 GRCh38: Chr3:179401338	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Likely benign (Oct 12, 2021)	criteria provided, single submitter
Select item 154926151.	NM_021629.4(GNB4):c.744C>T (p.Ala248=) GRCh37: Chr3:179123150 GRCh38: Chr3:179405362	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Likely benign (Jul 13, 2022)	criteria provided, single submitter
Select item 154903752.	NM_021629.4(GNB4):c.917-49_917-7del GRCh37: Chr3:179119114-179119156 GRCh38: Chr3:179401326-179401368	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Likely benign (Apr 13, 2021)	criteria provided, single submitter
Select item 154242453.	NM_021629.4(GNB4):c.714A>T (p.Gly238=) GRCh37: Chr3:179123180 GRCh38: Chr3:179405392	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Likely benign (Jun 20, 2022)	criteria provided, single submitter
Select item 153610754.	NM_021629.4(GNB4):c.204-4C>T GRCh37: Chr3:179134348 GRCh38: Chr3:179416560	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Likely benign (Feb 21, 2021)	criteria provided, single submitter
Select item 152469155.	NM_021629.4(GNB4):c.97-1_98del GRCh37: Chr3:179137292-179137294 GRCh38: Chr3:179419504-179419506	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 152429256.	NM_021629.4(GNB4):c.185A>C (p.His62Pro) GRCh37: Chr3:179137205 GRCh38: Chr3:179419417	GNB4	H62P	Charcot-Marie-Tooth disease dominant intermediate F	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 150823557.	NM_021629.4(GNB4):c.43C>T (p.Arg15Trp) GRCh37: Chr3:179143946 GRCh38: Chr3:179426158	GNB4	R15W	Charcot-Marie-Tooth disease dominant intermediate F	Uncertain significance (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 149952658.	NM_021629.4(GNB4):c.797A>G (p.His266Arg) GRCh37: Chr3:179123097 GRCh38: Chr3:179405309	GNB4	H266R	Charcot-Marie-Tooth disease dominant intermediate F	Uncertain significance (Sep 15, 2021)	criteria provided, single submitter
Select item 149492359.	NM_021629.4(GNB4):c.981G>A (p.Val327=) GRCh37: Chr3:179119043 GRCh38: Chr3:179401255	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Uncertain significance (Aug 12, 2021)	criteria provided, single submitter
Select item 146510860.	NM_021629.4(GNB4):c.356A>G (p.Asn119Ser) GRCh37: Chr3:179132747 GRCh38: Chr3:179414959	GNB4	N119S	Charcot-Marie-Tooth disease dominant intermediate F	Uncertain significance (Nov 26, 2021)	criteria provided, single submitter
Select item 146312561.	NM_021629.4(GNB4):c.311C>T (p.Ala104Val) GRCh37: Chr3:179132792 GRCh38: Chr3:179415004	GNB4	A104V	Charcot-Marie-Tooth disease dominant intermediate F	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 146212762.	NM_021629.4(GNB4):c.800A>G (p.Asp267Gly) GRCh37: Chr3:179123094 GRCh38: Chr3:179405306	GNB4	D267G	Charcot-Marie-Tooth disease dominant intermediate F	Uncertain significance (Nov 12, 2021)	criteria provided, single submitter
Select item 143696863.	NM_021629.4(GNB4):c.521C>T (p.Ala174Val) GRCh37: Chr3:179131378 GRCh38: Chr3:179413590	GNB4	A174V	Charcot-Marie-Tooth disease dominant intermediate F	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 143069064.	NM_021629.4(GNB4):c.34G>C (p.Glu12Gln) GRCh37: Chr3:179143955 GRCh38: Chr3:179426167	GNB4	E12Q	Charcot-Marie-Tooth disease dominant intermediate F	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 142807765.	NM_021629.4(GNB4):c.751C>T (p.Arg251Trp) GRCh37: Chr3:179123143 GRCh38: Chr3:179405355	GNB4	R251W	Charcot-Marie-Tooth disease dominant intermediate F	Uncertain significance (Apr 23, 2022)	criteria provided, single submitter
Select item 141229166.	NC_000003.11:g.(?_179119001)_(179138735_?)dup GRCh37: Chr3:179119001-179138735	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Uncertain significance (Feb 3, 2022)	criteria provided, single submitter
Select item 140122067.	NM_021629.4(GNB4):c.102del (p.Ser35fs) GRCh37: Chr3:179137288 GRCh38: Chr3:179419500	GNB4	S35fs	Charcot-Marie-Tooth disease dominant intermediate F	Uncertain significance (Feb 23, 2021)	criteria provided, single submitter
Select item 139728668.	NM_021629.4(GNB4):c.898C>G (p.Leu300Val) GRCh37: Chr3:179122996 GRCh38: Chr3:179405208	GNB4	L300V	Charcot-Marie-Tooth disease dominant intermediate F	Uncertain significance (Sep 17, 2021)	criteria provided, single submitter
Select item 138104769.	NM_021629.4(GNB4):c.96+2T>C GRCh37: Chr3:179138675 GRCh38: Chr3:179420887	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Uncertain significance (Sep 14, 2021)	criteria provided, single submitter
Select item 136423370.	NM_021629.4(GNB4):c.915A>G (p.Ala305=) GRCh37: Chr3:179122979 GRCh38: Chr3:179405191	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 134813671.	NM_021629.4(GNB4):c.916+3T>C GRCh37: Chr3:179122975 GRCh38: Chr3:179405187	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Uncertain significance (Apr 23, 2021)	criteria provided, single submitter
Select item 129924272.	NM_021629.4(GNB4):c.451T>G (p.Phe151Val) GRCh37: Chr3:179131549 GRCh38: Chr3:179413761	GNB4	F151V	Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate F	Uncertain significance (Nov 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 120477173.	NM_021629.4(GNB4):c.916+10_916+11insG GRCh37: Chr3:179122967-179122968 GRCh38: Chr3:179405179-179405180	GNB4		Charcot-Marie-Tooth disease dominant intermediate F, not provided	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116713574.	NM_021629.4(GNB4):c.6C>T (p.Ser2=) GRCh37: Chr3:179143983 GRCh38: Chr3:179426195	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Benign (Jan 15, 2022)	criteria provided, single submitter
Select item 116190775.	NM_021629.4(GNB4):c.917-12dup GRCh37: Chr3:179119110-179119111 GRCh38: Chr3:179401322-179401323	GNB4		Charcot-Marie-Tooth disease dominant intermediate F, not provided, Inborn genetic diseases	Benign/Likely benign (Sep 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 116010676.	NM_021629.4(GNB4):c.513C>T (p.Ile171=) GRCh37: Chr3:179131386 GRCh38: Chr3:179413598	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Likely benign (Aug 26, 2021)	criteria provided, single submitter
Select item 115303877.	NM_021629.4(GNB4):c.363C>T (p.Cys121=) GRCh37: Chr3:179132740 GRCh38: Chr3:179414952	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Likely benign (Jan 21, 2020)	criteria provided, single submitter
Select item 114938678.	NM_021629.4(GNB4):c.921C>T (p.Val307=) GRCh37: Chr3:179119103 GRCh38: Chr3:179401315	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Likely benign (Jul 29, 2022)	criteria provided, single submitter
Select item 114493979.	NM_021629.4(GNB4):c.952T>C (p.Leu318=) GRCh37: Chr3:179119072 GRCh38: Chr3:179401284	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Likely benign (Mar 15, 2020)	criteria provided, single submitter
Select item 114173680.	NM_021629.4(GNB4):c.681A>G (p.Ser227=) GRCh37: Chr3:179131218 GRCh38: Chr3:179413430	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Likely benign (Jul 22, 2019)	criteria provided, single submitter
Select item 111873881.	NM_021629.4(GNB4):c.756C>G (p.Leu252=) GRCh37: Chr3:179123138 GRCh38: Chr3:179405350	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Likely benign (Apr 19, 2022)	criteria provided, single submitter
Select item 111474582.	NM_021629.4(GNB4):c.787T>C (p.Leu263=) GRCh37: Chr3:179123107 GRCh38: Chr3:179405319	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Likely benign (Sep 13, 2020)	criteria provided, single submitter
Select item 111145583.	NM_021629.4(GNB4):c.367A>G (p.Ile123Val) GRCh37: Chr3:179132736 GRCh38: Chr3:179414948	GNB4	I123V	Charcot-Marie-Tooth disease dominant intermediate F	Likely benign (Jun 20, 2022)	criteria provided, single submitter
Select item 111130284.	NM_021629.4(GNB4):c.903A>G (p.Lys301=) GRCh37: Chr3:179122991 GRCh38: Chr3:179405203	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Likely benign (Aug 6, 2019)	criteria provided, single submitter
Select item 110850185.	NM_021629.4(GNB4):c.291C>T (p.Ser97=) GRCh37: Chr3:179132812 GRCh38: Chr3:179415024	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Likely benign (Oct 19, 2020)	criteria provided, single submitter
Select item 110317086.	NM_021629.4(GNB4):c.399G>C (p.Val133=) GRCh37: Chr3:179132704 GRCh38: Chr3:179414916	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Likely benign (Nov 19, 2019)	criteria provided, single submitter
Select item 109893487.	NM_021629.4(GNB4):c.918T>G (p.Gly306=) GRCh37: Chr3:179119106 GRCh38: Chr3:179401318	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Likely benign (Jan 24, 2020)	criteria provided, single submitter
Select item 109657188.	NM_021629.4(GNB4):c.45G>T (p.Arg15=) GRCh37: Chr3:179143944 GRCh38: Chr3:179426156	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Likely benign (Aug 6, 2021)	criteria provided, single submitter
Select item 109214289.	NM_021629.4(GNB4):c.645T>C (p.Asp215=) GRCh37: Chr3:179131254 GRCh38: Chr3:179413466	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Likely benign (May 27, 2019)	criteria provided, single submitter
Select item 109134190.	NM_021629.4(GNB4):c.259A>G (p.Thr87Ala) GRCh37: Chr3:179134289 GRCh38: Chr3:179416501	GNB4	T87A	Charcot-Marie-Tooth disease dominant intermediate F	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 108262091.	NM_021629.4(GNB4):c.204-7_204-6insT GRCh37: Chr3:179134350-179134351 GRCh38: Chr3:179416562-179416563	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Likely benign (Aug 9, 2019)	criteria provided, single submitter
Select item 108162892.	NM_021629.4(GNB4):c.700-10T>G GRCh37: Chr3:179123204 GRCh38: Chr3:179405416	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Likely benign (Oct 24, 2020)	criteria provided, single submitter
Select item 107962293.	NM_021629.4(GNB4):c.916+10T>C GRCh37: Chr3:179122968 GRCh38: Chr3:179405180	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Likely benign (Apr 26, 2019)	criteria provided, single submitter
Select item 105635594.	NM_021629.4(GNB4):c.700-9C>G GRCh37: Chr3:179123203 GRCh38: Chr3:179405415	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 103867295.	NM_021629.4(GNB4):c.803A>G (p.Asn268Ser) GRCh37: Chr3:179123091 GRCh38: Chr3:179405303	GNB4	N268S	Charcot-Marie-Tooth disease dominant intermediate F, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Feb 3, 2022)	criteria provided, conflicting interpretations
Select item 102561996.	NM_021629.4(GNB4):c.125G>A (p.Arg42Gln) GRCh37: Chr3:179137265 GRCh38: Chr3:179419477	GNB4	R42Q	Charcot-Marie-Tooth disease dominant intermediate F	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 101860897.	NM_021629.4(GNB4):c.83C>G (p.Ala28Gly) GRCh37: Chr3:179138690 GRCh38: Chr3:179420902	GNB4	A28G	Charcot-Marie-Tooth disease dominant intermediate F	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 101617798.	NM_021629.4(GNB4):c.941G>A (p.Arg314His) GRCh37: Chr3:179119083 GRCh38: Chr3:179401295	GNB4	R314H	Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate F	Uncertain significance (Sep 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 100290499.	NM_021629.4(GNB4):c.431-11_431-10del GRCh37: Chr3:179131579-179131580 GRCh38: Chr3:179413791-179413792	GNB4		Charcot-Marie-Tooth disease dominant intermediate F	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 1001722100.	NM_021629.4(GNB4):c.265A>C (p.Lys89Gln) GRCh37: Chr3:179134283 GRCh38: Chr3:179416495	GNB4	K89Q	Charcot-Marie-Tooth disease dominant intermediate F	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter

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