ClinVar for MedGen (Select 322471) - ClinVar

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Items: 40

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 10278611.	NM_014365.3(HSPB8):c.403G>C (p.Val135Leu) GRCh37: Chr12:119624865 GRCh38: Chr12:119187060	HSPB8	V135L	Neuronopathy, distal hereditary motor, type 2A	Uncertain significance (Sep 23, 2020)	criteria provided, single submitter
Select item 9771572.	NM_014365.3(HSPB8):c.562del (p.Gln188fs) GRCh37: Chr12:119631631 GRCh38: Chr12:119193826	HSPB8	Q188fs	Neuronopathy, distal hereditary motor, type 2A	Likely pathogenic (May 29, 2020)	criteria provided, single submitter
Select item 8839853.	NM_014365.3(HSPB8):c.*330A>T GRCh37: Chr12:119631993 GRCh38: Chr12:119194188	HSPB8		Neuronopathy, distal hereditary motor, type 2A, Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8839844.	NM_014365.3(HSPB8):c.*123G>A GRCh37: Chr12:119631786 GRCh38: Chr12:119193981	HSPB8		Charcot-Marie-Tooth disease axonal type 2L, Neuronopathy, distal hereditary motor, type 2A	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 8832455.	NM_014365.3(HSPB8):c.*860T>C GRCh37: Chr12:119632523 GRCh38: Chr12:119194718	HSPB8		Charcot-Marie-Tooth disease axonal type 2L, Neuronopathy, distal hereditary motor, type 2A	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 8831316.	NM_014365.2(HSPB8):c.-419A>T GRCh37: Chr12:119616699 GRCh38: Chr12:119178894	HSPB8		Charcot-Marie-Tooth disease axonal type 2L, Neuronopathy, distal hereditary motor, type 2A	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 8821047.	NM_014365.3(HSPB8):c.*788C>T GRCh37: Chr12:119632451 GRCh38: Chr12:119194646	HSPB8		Charcot-Marie-Tooth disease axonal type 2L, Neuronopathy, distal hereditary motor, type 2A	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 8819618.	NM_014365.2(HSPB8):c.-522C>G GRCh37: Chr12:119616596 GRCh38: Chr12:119178791	HSPB8		Neuronopathy, distal hereditary motor, type 2A, Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (Nov 15, 2017)	criteria provided, single submitter
Select item 8806249.	NM_014365.3(HSPB8):c.163C>T (p.Arg55Cys) GRCh37: Chr12:119617280 GRCh38: Chr12:119179475	HSPB8	R55C	Charcot-Marie-Tooth disease axonal type 2L, Neuronopathy, distal hereditary motor, type 2A, not provided, Inborn genetic diseases	Uncertain significance (Feb 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 56748410.	NM_014365.3(HSPB8):c.14A>G (p.Gln5Arg) GRCh37: Chr12:119617131 GRCh38: Chr12:119179326	HSPB8	Q5R	Charcot-Marie-Tooth disease axonal type 2L, Neuronopathy, distal hereditary motor, type 2A, Inborn genetic diseases, not provided, Charcot-Marie-Tooth disease axonal type 2L, Neuronopathy, distal hereditary motor, type 2A	Conflicting interpretations of pathogenicity (Aug 31, 2022)	criteria provided, conflicting interpretations
Select item 56041111.	NM_014365.3(HSPB8):c.413A>C (p.Asn138Thr) GRCh37: Chr12:119624875 GRCh38: Chr12:119187070	HSPB8	N138T	Neuronopathy, distal hereditary motor, type 2A	Likely pathogenic (Feb 2, 2017)	criteria provided, single submitter
Select item 56041012.	NM_014365.3(HSPB8):c.269C>T (p.Pro90Leu) GRCh37: Chr12:119617386 GRCh38: Chr12:119179581	HSPB8	P90L	Neuronopathy, distal hereditary motor, type 2A	Uncertain significance (Feb 2, 2017)	criteria provided, single submitter
Select item 46451013.	NM_014365.3(HSPB8):c.432-10T>A GRCh37: Chr12:119631494 GRCh38: Chr12:119193689	HSPB8		not provided, Neuronopathy, distal hereditary motor, type 2A, Charcot-Marie-Tooth disease axonal type 2L	Conflicting interpretations of pathogenicity (Nov 3, 2022)	criteria provided, conflicting interpretations
Select item 45094514.	NM_014365.3(HSPB8):c.499G>A (p.Glu167Lys) GRCh37: Chr12:119631571 GRCh38: Chr12:119193766	HSPB8	E167K	Inborn genetic diseases, Neuronopathy, distal hereditary motor, type 2A, Charcot-Marie-Tooth disease axonal type 2L, Neuronopathy, distal hereditary motor, type 2A, Charcot-Marie-Tooth disease axonal type 2L, not provided	Benign/Likely benign (Oct 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 38097115.	NM_014365.3(HSPB8):c.233G>T (p.Arg78Met) GRCh37: Chr12:119617350 GRCh38: Chr12:119179545	HSPB8	R78M	not specified, not provided, Inborn genetic diseases, Neuronopathy, distal hereditary motor, type 2A, Charcot-Marie-Tooth disease axonal type 2L	Benign/Likely benign (Sep 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 30743016.	NM_014365.3(HSPB8):c.*803T>C GRCh37: Chr12:119632466 GRCh38: Chr12:119194661	HSPB8		Neuronopathy, distal hereditary motor, type 2A, Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30742817.	NM_014365.3(HSPB8):c.*684G>A GRCh37: Chr12:119632347 GRCh38: Chr12:119194542	HSPB8		not provided, Charcot-Marie-Tooth disease axonal type 2L, Neuronopathy, distal hereditary motor, type 2A	Benign (May 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 30742718.	NM_014365.3(HSPB8):c.*648A>G GRCh37: Chr12:119632311 GRCh38: Chr12:119194506	HSPB8		Charcot-Marie-Tooth disease axonal type 2L, Neuronopathy, distal hereditary motor, type 2A	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30742619.	NM_014365.3(HSPB8):c.*644A>G GRCh37: Chr12:119632307 GRCh38: Chr12:119194502	HSPB8		not provided, Charcot-Marie-Tooth disease axonal type 2L, Neuronopathy, distal hereditary motor, type 2A	Benign (May 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 30742520.	NM_014365.3(HSPB8):c.*616C>T GRCh37: Chr12:119632279 GRCh38: Chr12:119194474	HSPB8		Charcot-Marie-Tooth disease axonal type 2L, Neuronopathy, distal hereditary motor, type 2A	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 30742421.	NM_014365.3(HSPB8):c.*616C>G GRCh37: Chr12:119632279 GRCh38: Chr12:119194474	HSPB8		Neuronopathy, distal hereditary motor, type 2A, Charcot-Marie-Tooth disease axonal type 2L	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 30742322.	NM_014365.3(HSPB8):c.*581G>A GRCh37: Chr12:119632244 GRCh38: Chr12:119194439	HSPB8		Charcot-Marie-Tooth disease axonal type 2L, Neuronopathy, distal hereditary motor, type 2A	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 30742223.	NM_014365.3(HSPB8):c.*504T>C GRCh37: Chr12:119632167 GRCh38: Chr12:119194362	HSPB8		Charcot-Marie-Tooth disease axonal type 2L, Neuronopathy, distal hereditary motor, type 2A	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30742124.	NM_014365.3(HSPB8):c.*440C>G GRCh37: Chr12:119632103 GRCh38: Chr12:119194298	HSPB8		Charcot-Marie-Tooth disease axonal type 2L, Neuronopathy, distal hereditary motor, type 2A	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 30742025.	NM_014365.3(HSPB8):c.*67T>G GRCh37: Chr12:119631730 GRCh38: Chr12:119193925	HSPB8		Charcot-Marie-Tooth disease axonal type 2L, Neuronopathy, distal hereditary motor, type 2A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30741926.	NM_014365.3(HSPB8):c.552C>T (p.Asn184=) GRCh37: Chr12:119631624 GRCh38: Chr12:119193819	HSPB8		not specified, not provided, Neuronopathy, distal hereditary motor, type 2A, Charcot-Marie-Tooth disease axonal type 2L	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30741827.	NM_014365.3(HSPB8):c.535G>C (p.Glu179Gln) GRCh37: Chr12:119631607 GRCh38: Chr12:119193802	HSPB8	E179Q	not specified, Charcot-Marie-Tooth disease axonal type 2L, Neuronopathy, distal hereditary motor, type 2A, Charcot-Marie-Tooth disease axonal type 2L, Neuronopathy, distal hereditary motor, type 2A	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30741728.	NM_014365.3(HSPB8):c.266C>G (p.Pro89Arg) GRCh37: Chr12:119617383 GRCh38: Chr12:119179578	HSPB8	P89R	Charcot-Marie-Tooth disease axonal type 2L, Neuronopathy, distal hereditary motor, type 2A, Inborn genetic diseases, not provided	Benign/Likely benign (Dec 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30741629.	NM_014365.3(HSPB8):c.48G>A (p.Leu16=) GRCh37: Chr12:119617165 GRCh38: Chr12:119179360	HSPB8		Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2L, Neuronopathy, distal hereditary motor, type 2A	Benign/Likely benign (Jul 11, 2019)	criteria provided, multiple submitters, no conflicts
Select item 30741530.	NM_014365.3(HSPB8):c.-172G>C GRCh37: Chr12:119616946 GRCh38: Chr12:119179141	HSPB8		Charcot-Marie-Tooth disease axonal type 2L, Neuronopathy, distal hereditary motor, type 2A	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30741431.	NM_014365.3(HSPB8):c.-193T>C GRCh37: Chr12:119616925 GRCh38: Chr12:119179120	HSPB8		not provided, Charcot-Marie-Tooth disease axonal type 2L, Neuronopathy, distal hereditary motor, type 2A	Benign (Jun 16, 2018)	criteria provided, multiple submitters, no conflicts
Select item 30741332.	NM_014365.3(HSPB8):c.-201G>T GRCh37: Chr12:119616917 GRCh38: Chr12:119179112	HSPB8		Charcot-Marie-Tooth disease axonal type 2L, Neuronopathy, distal hereditary motor, type 2A	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30741233.	NM_014365.3(HSPB8):c.-314T>C GRCh37: Chr12:119616804 GRCh38: Chr12:119178999	HSPB8		Charcot-Marie-Tooth disease axonal type 2L, Neuronopathy, distal hereditary motor, type 2A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30741134.	NM_014365.2(HSPB8):c.-457A>G GRCh37: Chr12:119616661 GRCh38: Chr12:119178856	HSPB8		Neuronopathy, distal hereditary motor, type 2A, Charcot-Marie-Tooth disease axonal type 2L	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 30741035.	NM_014365.2(HSPB8):c.-480C>G GRCh37: Chr12:119616638 GRCh38: Chr12:119178833	HSPB8		Neuronopathy, distal hereditary motor, type 2A, Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30740936.	NM_014365.2(HSPB8):c.-489G>A GRCh37: Chr12:119616629 GRCh38: Chr12:119178824	HSPB8		Neuronopathy, distal hereditary motor, type 2A, Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 26040337.	NM_014365.3(HSPB8):c.582C>T (p.Thr194=) GRCh37: Chr12:119631654 GRCh38: Chr12:119193849	HSPB8		not specified, Neuronopathy, distal hereditary motor, type 2A, Charcot-Marie-Tooth disease axonal type 2L, not provided	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 26040238.	NM_014365.3(HSPB8):c.402T>C (p.Ile134=) GRCh37: Chr12:119624864 GRCh38: Chr12:119187059	HSPB8		Neuronopathy, distal hereditary motor, type 2A, Charcot-Marie-Tooth disease axonal type 2L, not specified, not provided	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 261839.	NM_014365.3(HSPB8):c.421A>G (p.Lys141Glu) GRCh37: Chr12:119624883 GRCh38: Chr12:119187078	HSPB8		not provided, Charcot-Marie-Tooth disease axonal type 2L	Pathogenic (Oct 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 261740.	NM_014365.3(HSPB8):c.423G>C (p.Lys141Asn) GRCh37: Chr12:119624885 GRCh38: Chr12:119187080	HSPB8		Neuronopathy, distal hereditary motor, type 2A	Pathogenic (Jun 1, 2004)	no assertion criteria provided

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Items: 40