ClinVar for MedGen (Select 324826) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24259501.	NC_000012.11:g.(?_119631484)_(119631663_?)dup GRCh37: Chr12:119631484-119631663	HSPB8		Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (Oct 26, 2021)	criteria provided, single submitter
Select item 24259492.	NC_000012.11:g.(?_119617118)_(119624913_?)dup GRCh37: Chr12:119617118-119624913	HSPB8		Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (Aug 27, 2022)	criteria provided, single submitter
Select item 24259483.	NC_000012.11:g.(?_119624810)_(119624913_?)del GRCh37: Chr12:119624810-119624913	HSPB8		Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (Mar 24, 2022)	criteria provided, single submitter
Select item 22018044.	NM_014365.3(HSPB8):c.431+14A>C GRCh37: Chr12:119624907 GRCh38: Chr12:119187102	HSPB8		Charcot-Marie-Tooth disease axonal type 2L	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 21762655.	NM_014365.3(HSPB8):c.508C>A (p.Gln170Lys) GRCh37: Chr12:119631580 GRCh38: Chr12:119193775	HSPB8	Q170K	Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 21761616.	NM_014365.3(HSPB8):c.581C>A (p.Thr194Asn) GRCh37: Chr12:119631653 GRCh38: Chr12:119193848	HSPB8	T194N	Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 21745967.	NM_014365.3(HSPB8):c.243G>A (p.Val81=) GRCh37: Chr12:119617360 GRCh38: Chr12:119179555	HSPB8		Charcot-Marie-Tooth disease axonal type 2L	Likely benign (Mar 27, 2022)	criteria provided, single submitter
Select item 21608958.	NM_014365.3(HSPB8):c.540C>G (p.Ser180Arg) GRCh37: Chr12:119631612 GRCh38: Chr12:119193807	HSPB8	S180R	Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (Sep 29, 2022)	criteria provided, single submitter
Select item 21547259.	NM_014365.3(HSPB8):c.228C>T (p.Thr76=) GRCh37: Chr12:119617345 GRCh38: Chr12:119179540	HSPB8		Charcot-Marie-Tooth disease axonal type 2L	Likely benign (Mar 13, 2022)	criteria provided, single submitter
Select item 214588910.	NM_014365.3(HSPB8):c.317A>G (p.Lys106Arg) GRCh37: Chr12:119617434 GRCh38: Chr12:119179629	HSPB8	K106R	Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 211377711.	NM_014365.3(HSPB8):c.351A>T (p.Gly117=) GRCh37: Chr12:119617468 GRCh38: Chr12:119179663	HSPB8		Charcot-Marie-Tooth disease axonal type 2L	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 208125712.	NM_014365.3(HSPB8):c.281A>G (p.Glu94Gly) GRCh37: Chr12:119617398 GRCh38: Chr12:119179593	HSPB8	E94G	Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 203884113.	NM_014365.3(HSPB8):c.95A>C (p.Asp32Ala) GRCh37: Chr12:119617212 GRCh38: Chr12:119179407	HSPB8	D32A	Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (Feb 1, 2022)	criteria provided, single submitter
Select item 203356014.	NM_014365.3(HSPB8):c.372A>G (p.Lys124=) GRCh37: Chr12:119624834 GRCh38: Chr12:119187029	HSPB8		Charcot-Marie-Tooth disease axonal type 2L	Likely benign (Oct 1, 2022)	criteria provided, single submitter
Select item 202693615.	NM_014365.3(HSPB8):c.39A>G (p.Pro13=) GRCh37: Chr12:119617156 GRCh38: Chr12:119179351	HSPB8		Charcot-Marie-Tooth disease axonal type 2L	Likely benign (Sep 20, 2022)	criteria provided, single submitter
Select item 201131916.	NM_014365.3(HSPB8):c.432-8T>C GRCh37: Chr12:119631496 GRCh38: Chr12:119193691	HSPB8		Charcot-Marie-Tooth disease axonal type 2L	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 200691217.	NM_014365.3(HSPB8):c.218C>T (p.Pro73Leu) GRCh37: Chr12:119617335 GRCh38: Chr12:119179530	HSPB8	P73L	Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (Jun 28, 2022)	criteria provided, single submitter
Select item 199183218.	NM_014365.3(HSPB8):c.432-15G>A GRCh37: Chr12:119631489 GRCh38: Chr12:119193684	HSPB8		Charcot-Marie-Tooth disease axonal type 2L	Likely benign (Nov 2, 2022)	criteria provided, single submitter
Select item 198609819.	NM_014365.3(HSPB8):c.566A>G (p.Asp189Gly) GRCh37: Chr12:119631638 GRCh38: Chr12:119193833	HSPB8	D189G	Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (Apr 21, 2022)	criteria provided, single submitter
Select item 198412620.	NM_014365.3(HSPB8):c.439G>A (p.Ala147Thr) GRCh37: Chr12:119631511 GRCh38: Chr12:119193706	HSPB8	A147T	Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 197667621.	NM_014365.3(HSPB8):c.204G>A (p.Met68Ile) GRCh37: Chr12:119617321 GRCh38: Chr12:119179516	HSPB8	M68I	Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 196646122.	NM_014365.3(HSPB8):c.51C>T (p.Arg17=) GRCh37: Chr12:119617168 GRCh38: Chr12:119179363	HSPB8		Charcot-Marie-Tooth disease axonal type 2L	Likely benign (Feb 21, 2022)	criteria provided, single submitter
Select item 195692723.	NM_014365.3(HSPB8):c.266del (p.Pro89fs) GRCh37: Chr12:119617377 GRCh38: Chr12:119179572	HSPB8	P89fs	Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (Nov 29, 2021)	criteria provided, single submitter
Select item 193056024.	NM_014365.3(HSPB8):c.432-10T>C GRCh37: Chr12:119631494 GRCh38: Chr12:119193689	HSPB8		Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (Jan 5, 2022)	criteria provided, single submitter
Select item 189984525.	NM_014365.3(HSPB8):c.50G>A (p.Arg17His) GRCh37: Chr12:119617167 GRCh38: Chr12:119179362	HSPB8	R17H	Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (Oct 19, 2022)	criteria provided, single submitter
Select item 189784226.	NM_014365.3(HSPB8):c.86G>A (p.Arg29His) GRCh37: Chr12:119617203 GRCh38: Chr12:119179398	HSPB8	R29H	Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (Jun 15, 2022)	criteria provided, single submitter
Select item 180562827.	NM_014365.3(HSPB8):c.508del (p.Gln170fs) GRCh37: Chr12:119631577 GRCh38: Chr12:119193772	HSPB8	Q170fs	Charcot-Marie-Tooth disease axonal type 2L	Pathogenic (May 21, 2020)	criteria provided, single submitter
Select item 180350428.	NM_014365.3(HSPB8):c.143G>A (p.Trp48Ter) GRCh37: Chr12:119617260 GRCh38: Chr12:119179455	HSPB8	W48*	not provided, Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (Dec 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 170985629.	NM_014365.3(HSPB8):c.508_509del (p.Gln170fs) GRCh37: Chr12:119631580-119631581 GRCh38: Chr12:119193775-119193776	HSPB8	Q170fs	Charcot-Marie-Tooth disease axonal type 2L	Likely pathogenic (Jul 23, 2021)	criteria provided, single submitter
Select item 167001530.	NM_014365.3(HSPB8):c.264C>A (p.Pro88=) GRCh37: Chr12:119617381 GRCh38: Chr12:119179576	HSPB8		Charcot-Marie-Tooth disease axonal type 2L	Likely benign (Jan 8, 2021)	criteria provided, single submitter
Select item 163636931.	NM_014365.3(HSPB8):c.431+15G>A GRCh37: Chr12:119624908 GRCh38: Chr12:119187103	HSPB8		Charcot-Marie-Tooth disease axonal type 2L	Likely benign (May 8, 2021)	criteria provided, single submitter
Select item 159222032.	NM_014365.3(HSPB8):c.367+18G>A GRCh37: Chr12:119617502 GRCh38: Chr12:119179697	HSPB8		Charcot-Marie-Tooth disease axonal type 2L	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 156108333.	NM_014365.3(HSPB8):c.431+19T>C GRCh37: Chr12:119624912 GRCh38: Chr12:119187107	HSPB8		Charcot-Marie-Tooth disease axonal type 2L	Likely benign (Oct 23, 2022)	criteria provided, single submitter
Select item 156053034.	NM_014365.3(HSPB8):c.93G>C (p.Leu31=) GRCh37: Chr12:119617210 GRCh38: Chr12:119179405	HSPB8		Charcot-Marie-Tooth disease axonal type 2L	Likely benign (Sep 29, 2022)	criteria provided, single submitter
Select item 155651835.	NM_014365.3(HSPB8):c.147C>G (p.Pro49=) GRCh37: Chr12:119617264 GRCh38: Chr12:119179459	HSPB8		Charcot-Marie-Tooth disease axonal type 2L	Likely benign (Apr 19, 2021)	criteria provided, single submitter
Select item 151330336.	NM_014365.3(HSPB8):c.518C>T (p.Pro173Leu) GRCh37: Chr12:119631590 GRCh38: Chr12:119193785	HSPB8	P173L	Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 149863537.	NM_014365.3(HSPB8):c.374A>G (p.His125Arg) GRCh37: Chr12:119624836 GRCh38: Chr12:119187031	HSPB8	H125R	Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 145081138.	NM_014365.3(HSPB8):c.52C>T (p.Arg18Ter) GRCh37: Chr12:119617169 GRCh38: Chr12:119179364	HSPB8	R18*	Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (Nov 5, 2021)	criteria provided, single submitter
Select item 142538539.	NM_014365.3(HSPB8):c.559C>T (p.Pro187Ser) GRCh37: Chr12:119631631 GRCh38: Chr12:119193826	HSPB8	P187S	Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (Sep 14, 2021)	criteria provided, single submitter
Select item 142321940.	NM_014365.3(HSPB8):c.255C>T (p.Gly85=) GRCh37: Chr12:119617372 GRCh38: Chr12:119179567	HSPB8		Charcot-Marie-Tooth disease axonal type 2L	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 141577241.	NM_014365.3(HSPB8):c.121C>T (p.Pro41Ser) GRCh37: Chr12:119617238 GRCh38: Chr12:119179433	HSPB8	P41S	Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (Sep 17, 2021)	criteria provided, single submitter
Select item 140229442.	NM_014365.3(HSPB8):c.397G>A (p.Gly133Ser) GRCh37: Chr12:119624859 GRCh38: Chr12:119187054	HSPB8	G133S	Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (Nov 13, 2021)	criteria provided, single submitter
Select item 139883443.	NM_014365.3(HSPB8):c.11G>A (p.Gly4Asp) GRCh37: Chr12:119617128 GRCh38: Chr12:119179323	HSPB8	G4D	Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 138845244.	NM_014365.3(HSPB8):c.212G>A (p.Arg71Gln) GRCh37: Chr12:119617329 GRCh38: Chr12:119179524	HSPB8	R71Q	Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 138540245.	NM_014365.3(HSPB8):c.391G>A (p.Glu131Lys) GRCh37: Chr12:119624853 GRCh38: Chr12:119187048	HSPB8	E131K	Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 136825746.	NM_014365.3(HSPB8):c.142T>C (p.Trp48Arg) GRCh37: Chr12:119617259 GRCh38: Chr12:119179454	HSPB8	W48R	Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (Aug 20, 2021)	criteria provided, single submitter
Select item 136556947.	NM_014365.3(HSPB8):c.150C>A (p.Asp50Glu) GRCh37: Chr12:119617267 GRCh38: Chr12:119179462	HSPB8	D50E	Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (Oct 31, 2021)	criteria provided, single submitter
Select item 136546448.	NM_014365.3(HSPB8):c.451C>T (p.Pro151Ser) GRCh37: Chr12:119631523 GRCh38: Chr12:119193718	HSPB8	P151S	Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (Jul 3, 2021)	criteria provided, single submitter
Select item 135961549.	NM_014365.3(HSPB8):c.479C>T (p.Pro160Leu) GRCh37: Chr12:119631551 GRCh38: Chr12:119193746	HSPB8	P160L	Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (Mar 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 135649550.	NM_014365.3(HSPB8):c.44G>A (p.Arg15His) GRCh37: Chr12:119617161 GRCh38: Chr12:119179356	HSPB8	R15H	Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (Aug 15, 2021)	criteria provided, single submitter
Select item 135146151.	NM_014365.3(HSPB8):c.58C>T (p.Pro20Ser) GRCh37: Chr12:119617175 GRCh38: Chr12:119179370	HSPB8	P20S	Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (Sep 6, 2021)	criteria provided, single submitter
Select item 125622352.	NM_014365.3(HSPB8):c.147C>T (p.Pro49=) GRCh37: Chr12:119617264 GRCh38: Chr12:119179459	HSPB8		Charcot-Marie-Tooth disease axonal type 2L, not specified	Benign/Likely benign (Jul 21, 2021)	criteria provided, multiple submitters, no conflicts
Select item 115535553.	NM_014365.3(HSPB8):c.21C>A (p.Pro7=) GRCh37: Chr12:119617138 GRCh38: Chr12:119179333	HSPB8		Charcot-Marie-Tooth disease axonal type 2L	Likely benign (Feb 26, 2019)	criteria provided, single submitter
Select item 115387554.	NM_014365.3(HSPB8):c.534A>G (p.Gly178=) GRCh37: Chr12:119631606 GRCh38: Chr12:119193801	HSPB8		Charcot-Marie-Tooth disease axonal type 2L, not provided	Likely benign (Jul 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 114238955.	NM_014365.3(HSPB8):c.549C>T (p.Asn183=) GRCh37: Chr12:119631621 GRCh38: Chr12:119193816	HSPB8		Charcot-Marie-Tooth disease axonal type 2L	Likely benign (Nov 7, 2019)	criteria provided, single submitter
Select item 110590656.	NM_014365.3(HSPB8):c.88C>T (p.Leu30=) GRCh37: Chr12:119617205 GRCh38: Chr12:119179400	HSPB8		Charcot-Marie-Tooth disease axonal type 2L	Likely benign (Oct 27, 2020)	criteria provided, single submitter
Select item 110253757.	NM_014365.3(HSPB8):c.249C>T (p.Ala83=) GRCh37: Chr12:119617366 GRCh38: Chr12:119179561	HSPB8		Charcot-Marie-Tooth disease axonal type 2L	Likely benign (Dec 24, 2019)	criteria provided, single submitter
Select item 110016558.	NM_014365.3(HSPB8):c.81C>T (p.Ser27=) GRCh37: Chr12:119617198 GRCh38: Chr12:119179393	HSPB8		Charcot-Marie-Tooth disease axonal type 2L	Likely benign (Dec 5, 2019)	criteria provided, single submitter
Select item 108477859.	NM_014365.3(HSPB8):c.357G>A (p.Val119=) GRCh37: Chr12:119617474 GRCh38: Chr12:119179669	HSPB8		Charcot-Marie-Tooth disease axonal type 2L	Likely benign (Jun 28, 2019)	criteria provided, single submitter
Select item 108051960.	NM_014365.3(HSPB8):c.45C>T (p.Arg15=) GRCh37: Chr12:119617162 GRCh38: Chr12:119179357	HSPB8		Charcot-Marie-Tooth disease axonal type 2L	Likely benign (Feb 12, 2020)	criteria provided, single submitter
Select item 107728961.	NM_014365.3(HSPB8):c.193A>C (p.Arg65=) GRCh37: Chr12:119617310 GRCh38: Chr12:119179505	HSPB8		Charcot-Marie-Tooth disease axonal type 2L	Likely benign (Jan 29, 2019)	criteria provided, single submitter
Select item 105578362.	NM_014365.3(HSPB8):c.563dup (p.Asp189fs) GRCh37: Chr12:119631634-119631635 GRCh38: Chr12:119193829-119193830	HSPB8	D189fs	Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 105500063.	NM_014365.3(HSPB8):c.365C>A (p.Ser122Tyr) GRCh37: Chr12:119617482 GRCh38: Chr12:119179677	HSPB8	S122Y	Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 105494064.	NM_014365.3(HSPB8):c.134C>G (p.Thr45Arg) GRCh37: Chr12:119617251 GRCh38: Chr12:119179446	HSPB8	T45R	Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 102090465.	NM_014365.3(HSPB8):c.149A>T (p.Asp50Val) GRCh37: Chr12:119617266 GRCh38: Chr12:119179461	HSPB8	D50V	Charcot-Marie-Tooth disease axonal type 2L, Inborn genetic diseases	Uncertain significance (Dec 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 101944166.	NM_014365.3(HSPB8):c.49C>T (p.Arg17Cys) GRCh37: Chr12:119617166 GRCh38: Chr12:119179361	HSPB8	R17C	Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 101412167.	NM_014365.3(HSPB8):c.188C>T (p.Thr63Ile) GRCh37: Chr12:119617305 GRCh38: Chr12:119179500	HSPB8	T63I	Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 100796768.	NC_000012.11:g.(?_119631494)_(119631673_?)dup GRCh37: Chr12:119631494-119631673	HSPB8		Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (Oct 3, 2020)	criteria provided, single submitter
Select item 100696069.	NM_014365.3(HSPB8):c.461T>C (p.Val154Ala) GRCh37: Chr12:119631533 GRCh38: Chr12:119193728	HSPB8	V154A	Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 99512770.	NM_014365.3(HSPB8):c.375T>C (p.His125=) GRCh37: Chr12:119624837 GRCh38: Chr12:119187032	HSPB8		Charcot-Marie-Tooth disease axonal type 2L, not provided	Likely benign (Sep 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99378171.	NM_014365.3(HSPB8):c.354C>T (p.Tyr118=) GRCh37: Chr12:119617471 GRCh38: Chr12:119179666	HSPB8		Charcot-Marie-Tooth disease axonal type 2L, not provided	Likely benign (Aug 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97297972.	NM_014365.3(HSPB8):c.577_580dup (p.Thr194fs) GRCh37: Chr12:119631647-119631648 GRCh38: Chr12:119193842-119193843	HSPB8	T194fs	Charcot-Marie-Tooth disease axonal type 2L	not provided	no assertion provided
Select item 97231873.	NM_014365.3(HSPB8):c.229G>A (p.Ala77Thr) GRCh37: Chr12:119617346 GRCh38: Chr12:119179541	HSPB8	A77T	Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97162074.	NM_014365.3(HSPB8):c.184_185del (p.Gly62fs) GRCh37: Chr12:119617301-119617302 GRCh38: Chr12:119179496-119179497	HSPB8	G62fs	Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (Oct 28, 2019)	criteria provided, single submitter
Select item 96876775.	NM_014365.3(HSPB8):c.211C>T (p.Arg71Trp) GRCh37: Chr12:119617328 GRCh38: Chr12:119179523	HSPB8	R71W	Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 96815876.	NM_014365.3(HSPB8):c.334del (p.Met111_Val112insTer) GRCh37: Chr12:119617450 GRCh38: Chr12:119179645	HSPB8		Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (Aug 12, 2021)	criteria provided, single submitter
Select item 95788877.	NM_014365.3(HSPB8):c.137C>A (p.Ala46Asp) GRCh37: Chr12:119617254 GRCh38: Chr12:119179449	HSPB8	A46D	not provided, Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 95363578.	NM_014365.3(HSPB8):c.556C>T (p.Leu186Phe) GRCh37: Chr12:119631628 GRCh38: Chr12:119193823	HSPB8	L186F	Charcot-Marie-Tooth disease axonal type 2L, Inborn genetic diseases	Uncertain significance (Aug 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 95341979.	NM_014365.3(HSPB8):c.311G>A (p.Ser104Asn) GRCh37: Chr12:119617428 GRCh38: Chr12:119179623	HSPB8	S104N	Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (Sep 2, 2021)	criteria provided, single submitter
Select item 95014680.	NM_014365.3(HSPB8):c.47T>G (p.Leu16Arg) GRCh37: Chr12:119617164 GRCh38: Chr12:119179359	HSPB8	L16R	Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (Mar 23, 2022)	criteria provided, single submitter
Select item 94638281.	NM_014365.3(HSPB8):c.515del (p.Pro172fs) GRCh37: Chr12:119631585 GRCh38: Chr12:119193780	HSPB8	P172fs	Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (Oct 18, 2020)	criteria provided, single submitter
Select item 94391682.	NM_014365.3(HSPB8):c.85C>T (p.Arg29Cys) GRCh37: Chr12:119617202 GRCh38: Chr12:119179397	HSPB8	R29C	not provided, Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (Feb 27, 2023)	criteria provided, multiple submitters, no conflicts
Select item 93516583.	NM_014365.3(HSPB8):c.241G>A (p.Val81Met) GRCh37: Chr12:119617358 GRCh38: Chr12:119179553	HSPB8	V81M	Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (Aug 13, 2021)	criteria provided, single submitter
Select item 93455284.	NM_014365.3(HSPB8):c.43C>T (p.Arg15Cys) GRCh37: Chr12:119617160 GRCh38: Chr12:119179355	HSPB8	R15C	Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 93176185.	NM_014365.3(HSPB8):c.367+57del GRCh37: Chr12:119617539 GRCh38: Chr12:119179734	HSPB8		Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (Jan 8, 2020)	criteria provided, single submitter
Select item 88398586.	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 88398487.	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 88324588.	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 88313189.	NM_014365.2(HSPB8):c.-419A>T GRCh37: Chr12:119616699 GRCh38: Chr12:119178894	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 88210490.	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 88196191.	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 88062492.	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 86363493.	NM_014365.3(HSPB8):c.280G>A (p.Glu94Lys) GRCh37: Chr12:119617397 GRCh38: Chr12:119179592	HSPB8	E94K	Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (Sep 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 85843094.	NM_014365.3(HSPB8):c.85C>A (p.Arg29Ser) GRCh37: Chr12:119617202 GRCh38: Chr12:119179397	HSPB8	R29S	not provided, Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85509795.	NM_014365.3(HSPB8):c.114C>A (p.Asp38Glu) GRCh37: Chr12:119617231 GRCh38: Chr12:119179426	HSPB8	D38E	Charcot-Marie-Tooth disease axonal type 2L, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Aug 3, 2022)	criteria provided, conflicting interpretations
Select item 85356996.	NM_014365.3(HSPB8):c.526A>G (p.Thr176Ala) GRCh37: Chr12:119631598 GRCh38: Chr12:119193793	HSPB8	T176A	Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 84776997.	NM_014365.3(HSPB8):c.127G>A (p.Asp43Asn) GRCh37: Chr12:119617244 GRCh38: Chr12:119179439	HSPB8	D43N	Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 83834998.	NM_014365.3(HSPB8):c.174C>A (p.Ser58=) GRCh37: Chr12:119617291 GRCh38: Chr12:119179486	HSPB8		Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 83439299.	NM_014365.3(HSPB8):c.10G>A (p.Gly4Ser) GRCh37: Chr12:119617127 GRCh38: Chr12:119179322	HSPB8	G4S	Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 811267100.	NM_014365.3(HSPB8):c.140C>G (p.Ser47Cys) GRCh37: Chr12:119617257 GRCh38: Chr12:119179452	HSPB8	S47C	not specified, Charcot-Marie-Tooth disease axonal type 2L	Uncertain significance (Aug 21, 2022)	criteria provided, multiple submitters, no conflicts

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