ClinVar for MedGen (Select 419393) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26267871.	NM_015915.5(ATL1):c.522+1G>T GRCh37: Chr14:51058358 GRCh38: Chr14:50591640	ATL1		Hereditary spastic paraplegia 3A	Likely pathogenic	no assertion criteria provided
Select item 25715202.	NM_015915.5(ATL1):c.460C>G (p.Gln154Glu) GRCh37: Chr14:51058295 GRCh38: Chr14:50591577	ATL1	Q154E	Hereditary spastic paraplegia 3A	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 25715193.	NM_015915.5(ATL1):c.452T>C (p.Phe151Ser) GRCh37: Chr14:51058287 GRCh38: Chr14:50591569	ATL1	F151S	Hereditary spastic paraplegia 3A	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 25715184.	NM_015915.5(ATL1):c.1504dup (p.Glu502fs) GRCh37: Chr14:51095132-51095133 GRCh38: Chr14:50628414-50628415	ATL1	E502fs	Hereditary spastic paraplegia 3A	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 25715175.	NM_015915.5(ATL1):c.1474dup (p.Ala492fs) GRCh37: Chr14:51095100-51095101 GRCh38: Chr14:50628382-50628383	ATL1	A492fs	Hereditary spastic paraplegia 3A	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 25715166.	NM_015915.5(ATL1):c.1465_1466dup (p.Thr490fs) GRCh37: Chr14:51095091-51095092 GRCh38: Chr14:50628373-50628374	ATL1	T490fs	Hereditary spastic paraplegia 3A	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 25715157.	NM_015915.5(ATL1):c.1319A>C (p.Asn440Thr) GRCh37: Chr14:51094948 GRCh38: Chr14:50628230	ATL1	N440T	Hereditary spastic paraplegia 3A	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 25715148.	NM_015915.5(ATL1):c.1237T>G (p.Phe413Val) GRCh37: Chr14:51094866 GRCh38: Chr14:50628148	ATL1	F413V	Hereditary spastic paraplegia 3A	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 25715139.	NM_015915.5(ATL1):c.1237T>C (p.Phe413Leu) GRCh37: Chr14:51094866 GRCh38: Chr14:50628148	ATL1	F413L	Hereditary spastic paraplegia 3A	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257151110.	NM_015915.5(ATL1):c.1193C>T (p.Ser398Phe) GRCh37: Chr14:51094822 GRCh38: Chr14:50628104	ATL1	S398F	Hereditary spastic paraplegia 3A	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257151011.	NM_015915.5(ATL1):c.1030C>T (p.Pro344Ser) GRCh37: Chr14:51088600 GRCh38: Chr14:50621882	ATL1	P344S	Hereditary spastic paraplegia 3A	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257150912.	NM_015915.5(ATL1):c.1025C>A (p.Pro342Gln) GRCh37: Chr14:51088595 GRCh38: Chr14:50621877	ATL1	P342Q	Hereditary spastic paraplegia 3A	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 257150813.	NM_015915.5(ATL1):c.1024C>T (p.Pro342Ser) GRCh37: Chr14:51088594 GRCh38: Chr14:50621876	ATL1	P342S	Hereditary spastic paraplegia 3A	Uncertain significance (Jan 6, 2016)	no assertion criteria provided
Select item 250463714.	NM_015915.5(ATL1):c.1208G>C (p.Arg403Pro) GRCh37: Chr14:51094837 GRCh38: Chr14:50628119	ATL1	R403P	Hereditary spastic paraplegia 3A	Likely pathogenic (May 31, 2023)	no assertion criteria provided
Select item 244433215.	NM_015915.5(ATL1):c.1041G>T (p.Met347Ile) GRCh37: Chr14:51088611 GRCh38: Chr14:50621893	ATL1	M347I	Hereditary spastic paraplegia 3A	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 242624316.	NC_000014.8:g.(?_51026984)_(51099057_?)dup GRCh37: Chr14:51026984-51099057	ATL1		Hereditary spastic paraplegia 3A	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 241647917.	NM_015915.5(ATL1):c.1374A>G (p.Thr458=) GRCh37: Chr14:51095003 GRCh38: Chr14:50628285	ATL1		Hereditary spastic paraplegia 3A	Likely benign (Aug 12, 2022)	criteria provided, single submitter
Select item 219511118.	NM_015915.5(ATL1):c.375A>G (p.Ile125Met) GRCh37: Chr14:51057751 GRCh38: Chr14:50591033	ATL1	I125M	Hereditary spastic paraplegia 3A	Uncertain significance (May 20, 2022)	criteria provided, single submitter
Select item 218820219.	NM_015915.5(ATL1):c.947A>G (p.Asn316Ser) GRCh37: Chr14:51087401 GRCh38: Chr14:50620683	ATL1	N316S	Hereditary spastic paraplegia 3A	Uncertain significance (Oct 2, 2022)	criteria provided, single submitter
Select item 218180920.	NM_015915.5(ATL1):c.1267A>G (p.Ser423Gly) GRCh37: Chr14:51094896 GRCh38: Chr14:50628178	ATL1	S423G	Hereditary spastic paraplegia 3A	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 217980621.	NM_015915.5(ATL1):c.1484G>A (p.Arg495Gln) GRCh37: Chr14:51095113 GRCh38: Chr14:50628395	ATL1	R495Q	Hereditary spastic paraplegia 3A	Likely pathogenic (May 9, 2022)	criteria provided, single submitter
Select item 217731322.	NM_015915.5(ATL1):c.1347C>T (p.Ala449=) GRCh37: Chr14:51094976 GRCh38: Chr14:50628258	ATL1		Hereditary spastic paraplegia 3A	Likely benign (Mar 10, 2022)	criteria provided, single submitter
Select item 217715723.	NM_015915.5(ATL1):c.884A>G (p.Lys295Arg) GRCh37: Chr14:51087338 GRCh38: Chr14:50620620	ATL1	K295R	Hereditary spastic paraplegia 3A	Uncertain significance (Feb 19, 2022)	criteria provided, single submitter
Select item 217285524.	NM_015915.5(ATL1):c.574-20G>A GRCh37: Chr14:51062274 GRCh38: Chr14:50595556	ATL1		Hereditary spastic paraplegia 3A	Likely benign (Apr 11, 2022)	criteria provided, single submitter
Select item 216995325.	NM_015915.5(ATL1):c.1120-11_1120-8del GRCh37: Chr14:51094735-51094738 GRCh38: Chr14:50628017-50628020	ATL1		Hereditary spastic paraplegia 3A	Likely benign (Mar 8, 2022)	criteria provided, single submitter
Select item 216982726.	NM_015915.5(ATL1):c.1201C>T (p.Leu401=) GRCh37: Chr14:51094830 GRCh38: Chr14:50628112	ATL1		Hereditary spastic paraplegia 3A	Likely benign (Jul 13, 2022)	criteria provided, single submitter
Select item 216921727.	NM_015915.5(ATL1):c.35-15T>C GRCh37: Chr14:51054534 GRCh38: Chr14:50587816	ATL1		Hereditary spastic paraplegia 3A	Likely benign (May 30, 2022)	criteria provided, single submitter
Select item 216191428.	NM_015915.5(ATL1):c.1309G>A (p.Asp437Asn) GRCh37: Chr14:51094938 GRCh38: Chr14:50628220	ATL1	D437N	Hereditary spastic paraplegia 3A	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 215925429.	NM_015915.5(ATL1):c.1336C>T (p.Arg446Cys) GRCh37: Chr14:51094965 GRCh38: Chr14:50628247	ATL1	R446C	Hereditary spastic paraplegia 3A	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 215756230.	NM_015915.5(ATL1):c.1311T>C (p.Asp437=) GRCh37: Chr14:51094940 GRCh38: Chr14:50628222	ATL1		Hereditary spastic paraplegia 3A	Likely benign (Mar 13, 2022)	criteria provided, single submitter
Select item 215645031.	NM_015915.5(ATL1):c.418-19G>A GRCh37: Chr14:51058234 GRCh38: Chr14:50591516	ATL1		Hereditary spastic paraplegia 3A	Likely benign (Jul 8, 2022)	criteria provided, single submitter
Select item 215467232.	NM_015915.5(ATL1):c.1120-10T>C GRCh37: Chr14:51094739 GRCh38: Chr14:50628021	ATL1		Hereditary spastic paraplegia 3A	Likely benign (May 12, 2022)	criteria provided, single submitter
Select item 215196933.	NM_015915.5(ATL1):c.70G>C (p.Glu24Gln) GRCh37: Chr14:51054584 GRCh38: Chr14:50587866	ATL1	E24Q	Hereditary spastic paraplegia 3A, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Apr 11, 2022)	criteria provided, conflicting interpretations
Select item 214724834.	NM_015915.5(ATL1):c.991-19T>A GRCh37: Chr14:51088542 GRCh38: Chr14:50621824	ATL1		Hereditary spastic paraplegia 3A	Likely benign (Dec 21, 2021)	criteria provided, single submitter
Select item 214707635.	NM_015915.5(ATL1):c.573+24dup GRCh37: Chr14:51060632-51060633 GRCh38: Chr14:50593914-50593915	ATL1		Hereditary spastic paraplegia 3A	Benign (Jun 10, 2022)	criteria provided, single submitter
Select item 214551836.	NM_015915.5(ATL1):c.283-16C>G GRCh37: Chr14:51057643 GRCh38: Chr14:50590925	ATL1		Hereditary spastic paraplegia 3A	Likely benign (Dec 9, 2021)	criteria provided, single submitter
Select item 214311737.	NM_015915.5(ATL1):c.991-12_991-11del GRCh37: Chr14:51088548-51088549 GRCh38: Chr14:50621830-50621831	ATL1		Hereditary spastic paraplegia 3A	Likely benign (May 7, 2022)	criteria provided, single submitter
Select item 213758438.	NM_015915.5(ATL1):c.916A>G (p.Ser306Gly) GRCh37: Chr14:51087370 GRCh38: Chr14:50620652	ATL1	S306G	Hereditary spastic paraplegia 3A	Uncertain significance (Jun 18, 2022)	criteria provided, single submitter
Select item 213470039.	NM_015915.5(ATL1):c.863-12T>C GRCh37: Chr14:51087305 GRCh38: Chr14:50620587	ATL1		Hereditary spastic paraplegia 3A	Likely benign (May 6, 2022)	criteria provided, single submitter
Select item 213397640.	NM_015915.5(ATL1):c.179A>C (p.Glu60Ala) GRCh37: Chr14:51054693 GRCh38: Chr14:50587975	ATL1	E60A	Hereditary spastic paraplegia 3A	Uncertain significance (May 5, 2022)	criteria provided, single submitter
Select item 212984941.	NM_015915.5(ATL1):c.1134C>G (p.Asp378Glu) GRCh37: Chr14:51094763 GRCh38: Chr14:50628045	ATL1	D378E	Hereditary spastic paraplegia 3A	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 211764942.	NM_015915.5(ATL1):c.576T>G (p.Leu192=) GRCh37: Chr14:51062296 GRCh38: Chr14:50595578	ATL1		Hereditary spastic paraplegia 3A	Likely benign (May 25, 2022)	criteria provided, single submitter
Select item 211208543.	NM_015915.5(ATL1):c.631-9_631-7del GRCh37: Chr14:51079963-51079965 GRCh38: Chr14:50613245-50613247	ATL1		Hereditary spastic paraplegia 3A	Likely benign (Mar 15, 2022)	criteria provided, single submitter
Select item 210951044.	NM_015915.5(ATL1):c.990+19G>C GRCh37: Chr14:51087463 GRCh38: Chr14:50620745	ATL1		Hereditary spastic paraplegia 3A	Likely benign (Jan 6, 2022)	criteria provided, single submitter
Select item 210894945.	NM_015915.5(ATL1):c.1173C>A (p.His391Gln) GRCh37: Chr14:51094802 GRCh38: Chr14:50628084	ATL1	H391Q	Hereditary spastic paraplegia 3A	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 210514446.	NM_015915.5(ATL1):c.35-8T>C GRCh37: Chr14:51054541 GRCh38: Chr14:50587823	ATL1		Hereditary spastic paraplegia 3A	Likely benign (Mar 1, 2022)	criteria provided, single submitter
Select item 210347747.	NM_015915.5(ATL1):c.1392G>C (p.Val464=) GRCh37: Chr14:51095021 GRCh38: Chr14:50628303	ATL1		Hereditary spastic paraplegia 3A	Likely benign (Feb 25, 2022)	criteria provided, single submitter
Select item 210180948.	NM_015915.5(ATL1):c.1021_1023del (p.Leu341del) GRCh37: Chr14:51088590-51088592 GRCh38: Chr14:50621872-50621874	ATL1	L341del	Hereditary spastic paraplegia 3A	Likely pathogenic (Aug 9, 2022)	criteria provided, single submitter
Select item 209623049.	NM_015915.5(ATL1):c.1665G>T (p.Lys555Asn) GRCh37: Chr14:51099045 GRCh38: Chr14:50632327	ATL1	K555N, K550N	Hereditary spastic paraplegia 3A	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 209499750.	NM_015915.5(ATL1):c.22A>C (p.Arg8=) GRCh37: Chr14:51027005 GRCh38: Chr14:50560287	ATL1, MAP4K5		Hereditary spastic paraplegia 3A	Likely benign (Feb 18, 2022)	criteria provided, single submitter
Select item 209428451.	NM_015915.5(ATL1):c.1369A>G (p.Ile457Val) GRCh37: Chr14:51094998 GRCh38: Chr14:50628280	ATL1	I457V	Hereditary spastic paraplegia 3A	Uncertain significance (Feb 6, 2022)	criteria provided, single submitter
Select item 208944952.	NM_015915.5(ATL1):c.990+9C>G GRCh37: Chr14:51087453 GRCh38: Chr14:50620735	ATL1		Hereditary spastic paraplegia 3A	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 207071553.	NM_015915.5(ATL1):c.990+14T>C GRCh37: Chr14:51087458 GRCh38: Chr14:50620740	ATL1		Hereditary spastic paraplegia 3A	Likely benign (Mar 4, 2022)	criteria provided, single submitter
Select item 206541454.	NM_015915.5(ATL1):c.261G>A (p.Met87Ile) GRCh37: Chr14:51054775 GRCh38: Chr14:50588057	ATL1	M87I	Inborn genetic diseases, Hereditary spastic paraplegia 3A	Uncertain significance (May 3, 2023)	criteria provided, multiple submitters, no conflicts
Select item 206201655.	NM_015915.5(ATL1):c.710A>G (p.Glu237Gly) GRCh37: Chr14:51080056 GRCh38: Chr14:50613338	ATL1	E237G	Hereditary spastic paraplegia 3A	Uncertain significance (Jun 9, 2022)	criteria provided, single submitter
Select item 205321856.	NM_015915.5(ATL1):c.282+15C>T GRCh37: Chr14:51054811 GRCh38: Chr14:50588093	ATL1		Hereditary spastic paraplegia 3A	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 204413657.	NM_015915.5(ATL1):c.1415T>G (p.Ile472Ser) GRCh37: Chr14:51095044 GRCh38: Chr14:50628326	ATL1	I472S	Hereditary spastic paraplegia 3A	Uncertain significance (May 19, 2022)	criteria provided, single submitter
Select item 204208958.	NM_015915.5(ATL1):c.574-5del GRCh37: Chr14:51062282 GRCh38: Chr14:50595564	ATL1		Hereditary spastic paraplegia 3A	Benign (Sep 9, 2022)	criteria provided, single submitter
Select item 203742959.	NM_015915.5(ATL1):c.1101C>A (p.Tyr367Ter) GRCh37: Chr14:51089948 GRCh38: Chr14:50623230	ATL1	Y367*	Hereditary spastic paraplegia 3A	Pathogenic (Jul 4, 2022)	criteria provided, single submitter
Select item 203580360.	NM_015915.5(ATL1):c.1512A>G (p.Gly504=) GRCh37: Chr14:51095141 GRCh38: Chr14:50628423	ATL1		Hereditary spastic paraplegia 3A	Likely benign (Oct 16, 2022)	criteria provided, single submitter
Select item 203185561.	NM_015915.5(ATL1):c.1002G>A (p.Lys334=) GRCh37: Chr14:51088572 GRCh38: Chr14:50621854	ATL1		Hereditary spastic paraplegia 3A	Likely benign (Sep 22, 2022)	criteria provided, single submitter
Select item 202214662.	NM_015915.5(ATL1):c.522+5G>A GRCh37: Chr14:51058362 GRCh38: Chr14:50591644	ATL1		Hereditary spastic paraplegia 3A	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 202143363.	NM_015915.5(ATL1):c.1214T>G (p.Val405Gly) GRCh37: Chr14:51094843 GRCh38: Chr14:50628125	ATL1	V405G	Hereditary spastic paraplegia 3A	Likely pathogenic (Oct 3, 2022)	criteria provided, single submitter
Select item 201692364.	NM_015915.5(ATL1):c.114C>T (p.Leu38=) GRCh37: Chr14:51054628 GRCh38: Chr14:50587910	ATL1		Hereditary spastic paraplegia 3A	Likely benign (Jul 14, 2022)	criteria provided, single submitter
Select item 201483165.	NM_015915.5(ATL1):c.574-19T>C GRCh37: Chr14:51062275 GRCh38: Chr14:50595557	ATL1		Hereditary spastic paraplegia 3A	Likely benign (Jul 7, 2022)	criteria provided, single submitter
Select item 201141266.	NM_015915.5(ATL1):c.55T>A (p.Tyr19Asn) GRCh37: Chr14:51054569 GRCh38: Chr14:50587851	ATL1	Y19N	Hereditary spastic paraplegia 3A	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 200978367.	NM_015915.5(ATL1):c.271A>C (p.Met91Leu) GRCh37: Chr14:51054785 GRCh38: Chr14:50588067	ATL1	M91L	Hereditary spastic paraplegia 3A	Uncertain significance (Jun 23, 2022)	criteria provided, single submitter
Select item 200906068.	NM_015915.5(ATL1):c.34+3G>C GRCh37: Chr14:51027020 GRCh38: Chr14:50560302	ATL1, MAP4K5		Hereditary spastic paraplegia 3A	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 199694469.	NM_015915.5(ATL1):c.584A>C (p.Glu195Ala) GRCh37: Chr14:51062304 GRCh38: Chr14:50595586	ATL1	E195A	Hereditary spastic paraplegia 3A	Pathogenic (Aug 22, 2022)	criteria provided, single submitter
Select item 199034170.	NM_015915.5(ATL1):c.522+25_522+27del GRCh37: Chr14:51058377-51058379 GRCh38: Chr14:50591659-50591661	ATL1		Hereditary spastic paraplegia 3A	Likely benign (Apr 6, 2022)	criteria provided, single submitter
Select item 198733271.	NM_015915.5(ATL1):c.991-16T>C GRCh37: Chr14:51088545 GRCh38: Chr14:50621827	ATL1		Hereditary spastic paraplegia 3A	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 198059272.	NM_015915.5(ATL1):c.1208G>A (p.Arg403Gln) GRCh37: Chr14:51094837 GRCh38: Chr14:50628119	ATL1	R403Q	Hereditary spastic paraplegia 3A	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 197940373.	NM_015915.5(ATL1):c.741T>G (p.His247Gln) GRCh37: Chr14:51081108 GRCh38: Chr14:50614390	ATL1	H247Q	Hereditary spastic paraplegia 3A	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 197900274.	NM_015915.5(ATL1):c.630+9G>A GRCh37: Chr14:51062359 GRCh38: Chr14:50595641	ATL1		Hereditary spastic paraplegia 3A	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 196858675.	NM_015915.5(ATL1):c.418-14C>G GRCh37: Chr14:51058239 GRCh38: Chr14:50591521	ATL1		Hereditary spastic paraplegia 3A	Likely benign (Apr 6, 2022)	criteria provided, single submitter
Select item 196247176.	NM_015915.5(ATL1):c.34+16G>C GRCh37: Chr14:51027033 GRCh38: Chr14:50560315	ATL1, MAP4K5		Hereditary spastic paraplegia 3A	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 195900177.	NM_015915.5(ATL1):c.898C>A (p.Leu300Met) GRCh37: Chr14:51087352 GRCh38: Chr14:50620634	ATL1	L300M	Hereditary spastic paraplegia 3A, not provided	Uncertain significance (May 4, 2023)	criteria provided, multiple submitters, no conflicts
Select item 195335178.	NM_015915.5(ATL1):c.862+15A>G GRCh37: Chr14:51081244 GRCh38: Chr14:50614526	ATL1		Hereditary spastic paraplegia 3A	Uncertain significance (Jan 28, 2022)	criteria provided, single submitter
Select item 194896779.	NM_015915.5(ATL1):c.268T>C (p.Tyr90His) GRCh37: Chr14:51054782 GRCh38: Chr14:50588064	ATL1	Y90H	Hereditary spastic paraplegia 3A, not provided	Uncertain significance (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 194303380.	NM_015915.5(ATL1):c.875A>G (p.Glu292Gly) GRCh37: Chr14:51087329 GRCh38: Chr14:50620611	ATL1	E292G	Hereditary spastic paraplegia 3A	Uncertain significance (Sep 22, 2022)	criteria provided, single submitter
Select item 193595281.	NM_015915.5(ATL1):c.182C>T (p.Ala61Val) GRCh37: Chr14:51054696 GRCh38: Chr14:50587978	ATL1	A61V	Hereditary spastic paraplegia 3A	Uncertain significance (Feb 20, 2022)	criteria provided, single submitter
Select item 192675282.	NM_015915.5(ATL1):c.1077C>T (p.Ala359=) GRCh37: Chr14:51089924 GRCh38: Chr14:50623206	ATL1		Hereditary spastic paraplegia 3A	Likely benign (Sep 22, 2022)	criteria provided, single submitter
Select item 191407883.	NM_015915.5(ATL1):c.1337G>A (p.Arg446His) GRCh37: Chr14:51094966 GRCh38: Chr14:50628248	ATL1	R446H	Hereditary spastic paraplegia 3A	Uncertain significance (Apr 7, 2022)	criteria provided, single submitter
Select item 190995184.	NM_015915.5(ATL1):c.35G>A (p.Gly12Asp) GRCh37: Chr14:51054549 GRCh38: Chr14:50587831	ATL1	G12D	Hereditary spastic paraplegia 3A	Uncertain significance (Feb 6, 2022)	criteria provided, single submitter
Select item 190988685.	NM_015915.5(ATL1):c.573+14T>C GRCh37: Chr14:51060628 GRCh38: Chr14:50593910	ATL1		Hereditary spastic paraplegia 3A	Likely benign (Dec 10, 2021)	criteria provided, single submitter
Select item 190431486.	NM_015915.5(ATL1):c.1639T>G (p.Ser547Ala) GRCh37: Chr14:51099019 GRCh38: Chr14:50632301	ATL1	S542A, S547A	Hereditary spastic paraplegia 3A	Uncertain significance (Dec 29, 2021)	criteria provided, single submitter
Select item 190006787.	NM_015915.5(ATL1):c.864A>C (p.Glu288Asp) GRCh37: Chr14:51087318 GRCh38: Chr14:50620600	ATL1	E288D	Hereditary spastic paraplegia 3A	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 180638388.	NM_015915.5(ATL1):c.458G>C (p.Ser153Thr) GRCh37: Chr14:51058293 GRCh38: Chr14:50591575	ATL1	S153T	Hereditary spastic paraplegia 3A	Likely pathogenic (May 6, 2021)	criteria provided, single submitter
Select item 176103089.	NM_015915.5(ATL1):c.788A>G (p.Asn263Ser) GRCh37: Chr14:51081155 GRCh38: Chr14:50614437	ATL1	N263S	Inborn genetic diseases, Hereditary spastic paraplegia 3A	Uncertain significance (Oct 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 174941190.	NM_015915.5(ATL1):c.574-6T>C GRCh37: Chr14:51062288 GRCh38: Chr14:50595570	ATL1		Inborn genetic diseases, Hereditary spastic paraplegia 3A	Likely benign (Jun 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 172742791.	NM_015915.5(ATL1):c.308A>G (p.Tyr103Cys) GRCh37: Chr14:51057684 GRCh38: Chr14:50590966	ATL1	Y103C	Hereditary spastic paraplegia 3A, Inborn genetic diseases	Uncertain significance (Mar 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 171835292.	NM_015915.5(ATL1):c.412A>G (p.Lys138Glu) GRCh37: Chr14:51057788 GRCh38: Chr14:50591070	ATL1	K138E	Hereditary spastic paraplegia 3A	Uncertain significance (Aug 30, 2022)	criteria provided, single submitter
Select item 171735393.	NM_015915.5(ATL1):c.1674G>A (p.Met558Ile) GRCh37: Chr14:51099054 GRCh38: Chr14:50632336	ATL1	M553I, M558I	Hereditary spastic paraplegia 3A	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 171411394.	NM_015915.5(ATL1):c.1070T>C (p.Leu357Ser) GRCh37: Chr14:51089917 GRCh38: Chr14:50623199	ATL1	L357S	ATL1-related condition, Hereditary spastic paraplegia 3A	Uncertain significance (Aug 10, 2023)	criteria provided, multiple submitters, no conflicts
Select item 171356495.	NM_015915.5(ATL1):c.1673T>G (p.Met558Arg) GRCh37: Chr14:51099053 GRCh38: Chr14:50632335	ATL1	M553R, M558R	Hereditary spastic paraplegia 3A	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 170951396.	NM_015915.5(ATL1):c.1358T>C (p.Val453Ala) GRCh37: Chr14:51094987 GRCh38: Chr14:50628269	ATL1	V453A	Hereditary spastic paraplegia 3A	Uncertain significance (Jun 28, 2022)	criteria provided, single submitter
Select item 168753297.	NM_015915.5(ATL1):c.1027C>G (p.His343Asp) GRCh37: Chr14:51088597 GRCh38: Chr14:50621879	ATL1	H343D	Hereditary spastic paraplegia 3A	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 168524798.	NM_015915.5(ATL1):c.466A>C (p.Thr156Pro) GRCh37: Chr14:51058301 GRCh38: Chr14:50591583	ATL1	T156P	Hereditary spastic paraplegia 3A	Pathogenic/Likely pathogenic (Apr 27, 2023)	criteria provided, multiple submitters, no conflicts
Select item 168411199.	NM_015915.5(ATL1):c.1288A>C (p.Ile430Leu) GRCh37: Chr14:51094917 GRCh38: Chr14:50628199	ATL1	I430L	not provided, Hereditary spastic paraplegia 3A	Uncertain significance (Jun 29, 2023)	criteria provided, multiple submitters, no conflicts
Select item 1663913100.	NM_015915.5(ATL1):c.34+10A>G GRCh37: Chr14:51027027 GRCh38: Chr14:50560309	ATL1, MAP4K5		Hereditary spastic paraplegia 3A	Likely benign (Dec 21, 2020)	criteria provided, single submitter

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