ClinVar for MedGen (Select 97950) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Links from MedGen

Items: 1 to 100 of 101

<< First< Prev

Page of 2

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25034331.	NM_015087.5(SPART):c.1643-2A>G GRCh37: Chr13:36886374 GRCh38: Chr13:36312237	SPART		Troyer syndrome	Likely pathogenic (Apr 1, 2023)	no assertion criteria provided
Select item 24362722.	NM_015087.5(SPART):c.389A>T (p.Gln130Leu) GRCh37: Chr13:36909579 GRCh38: Chr13:36335442	SPART	Q130L	Troyer syndrome	Uncertain significance (Sep 2, 2022)	criteria provided, single submitter
Select item 18786423.	NM_015087.5(SPART):c.696dup (p.Val233fs) GRCh37: Chr13:36909271-36909272 GRCh38: Chr13:36335134-36335135	SPART	V233fs	not provided, Troyer syndrome	Pathogenic/Likely pathogenic (Feb 27, 2023)	criteria provided, multiple submitters, no conflicts
Select item 16874084.	NM_015087.5(SPART):c.894_898del (p.Met299fs) GRCh37: Chr13:36905646-36905650 GRCh38: Chr13:36331509-36331513	SPART	M299fs	Troyer syndrome	Pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 13395175.	NM_015087.5(SPART):c.988A>G (p.Met330Val) GRCh37: Chr13:36905556 GRCh38: Chr13:36331419	SPART	M330V	Troyer syndrome	Conflicting interpretations of pathogenicity (Feb 15, 2022)	criteria provided, conflicting interpretations
Select item 13333346.	NM_015087.5(SPART):c.592G>T (p.Gly198Ter) GRCh37: Chr13:36909376 GRCh38: Chr13:36335239	SPART	G198*	Troyer syndrome	Likely pathogenic (Jan 3, 2022)	criteria provided, single submitter
Select item 13017167.	NM_015087.5(SPART):c.466C>T (p.Pro156Ser) GRCh37: Chr13:36909502 GRCh38: Chr13:36335365	SPART	P156S	Troyer syndrome, not provided, Hereditary spastic paraplegia	Uncertain significance (May 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10700608.	NM_015087.5(SPART):c.1294del (p.Ser432fs) GRCh37: Chr13:36888553 GRCh38: Chr13:36314416	SPART	S432fs	not provided, Troyer syndrome	Pathogenic (Jan 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10326539.	NM_015087.5(SPART):c.1399G>A (p.Val467Met) GRCh37: Chr13:36888448 GRCh38: Chr13:36314311	SPART	V467M	Troyer syndrome	Uncertain significance (Nov 3, 2018)	criteria provided, single submitter
Select item 98919910.	NM_015087.5(SPART):c.1474_1477del (p.Gln492fs) GRCh37: Chr13:36888370-36888373 GRCh38: Chr13:36314233-36314236	SPART	Q492fs	not provided, Troyer syndrome	Pathogenic (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88408111.	NM_015087.5(SPART):c.552T>C (p.Thr184=) GRCh37: Chr13:36909416 GRCh38: Chr13:36335279	SPART		Troyer syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88408012.	NM_015087.5(SPART):c.810+6C>T GRCh37: Chr13:36909152 GRCh38: Chr13:36335015	SPART		Troyer syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88407913.	NM_015087.5(SPART):c.1093T>C (p.Ser365Pro) GRCh37: Chr13:36903570 GRCh38: Chr13:36329433	SPART	S365P	Troyer syndrome	Uncertain significance (Mar 23, 2018)	criteria provided, single submitter
Select item 88402114.	NM_015087.5(SPART):c.*909A>G GRCh37: Chr13:36877593 GRCh38: Chr13:36303456	SPART		Troyer syndrome	Benign (Apr 27, 2017)	criteria provided, single submitter
Select item 88402015.	NM_015087.5(SPART):c.*964C>T GRCh37: Chr13:36877538 GRCh38: Chr13:36303401	SPART		Troyer syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88401916.	NM_015087.5(SPART):c.*980T>G GRCh37: Chr13:36877522 GRCh38: Chr13:36303385	SPART		Troyer syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88401817.	NM_015087.5(SPART):c.*1150A>G GRCh37: Chr13:36877352 GRCh38: Chr13:36303215	SPART		Troyer syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88401718.	NM_015087.5(SPART):c.*1165A>C GRCh37: Chr13:36877337 GRCh38: Chr13:36303200	SPART		Troyer syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88401619.	NM_015087.5(SPART):c.*1187A>G GRCh37: Chr13:36877315 GRCh38: Chr13:36303178	SPART		Troyer syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88395220.	NM_015087.5(SPART):c.*2456T>C GRCh37: Chr13:36876046 GRCh38: Chr13:36301909	SPART		Troyer syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88395121.	NM_015087.5(SPART):c.*2717C>A GRCh37: Chr13:36875785 GRCh38: Chr13:36301648	SPART		Troyer syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88327422.	NM_015087.5(SPART):c.1203C>T (p.His401=) GRCh37: Chr13:36900797 GRCh38: Chr13:36326660	SPART		Troyer syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88327323.	NM_015087.5(SPART):c.1624G>A (p.Ala542Thr) GRCh37: Chr13:36886474 GRCh38: Chr13:36312337	SPART	A542T	Troyer syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88322324.	NM_015087.5(SPART):c.*1267C>T GRCh37: Chr13:36877235 GRCh38: Chr13:36303098	SPART		Troyer syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88322225.	NM_015087.5(SPART):c.*1624C>T GRCh37: Chr13:36876878 GRCh38: Chr13:36302741	SPART		Troyer syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88322126.	NM_015087.5(SPART):c.*1645C>T GRCh37: Chr13:36876857 GRCh38: Chr13:36302720	SPART		Troyer syndrome	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 88322027.	NM_015087.5(SPART):c.*1686G>A GRCh37: Chr13:36876816 GRCh38: Chr13:36302679	SPART		Troyer syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88321928.	NM_015087.5(SPART):c.*1751A>T GRCh37: Chr13:36876751 GRCh38: Chr13:36302614	SPART		Troyer syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88212629.	NM_015087.5(SPART):c.1795G>A (p.Val599Ile) GRCh37: Chr13:36878708 GRCh38: Chr13:36304571	SPART	V599I	Troyer syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88212530.	NM_015087.5(SPART):c.*108T>C GRCh37: Chr13:36878394 GRCh38: Chr13:36304257	SPART		Troyer syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88207531.	NM_015087.5(SPART):c.*1847G>C GRCh37: Chr13:36876655 GRCh38: Chr13:36302518	SPART		Troyer syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88207432.	NM_015087.5(SPART):c.*1908A>G GRCh37: Chr13:36876594 GRCh38: Chr13:36302457	SPART		Troyer syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88207333.	NM_015087.5(SPART):c.*2023T>A GRCh37: Chr13:36876479 GRCh38: Chr13:36302342	SPART		Troyer syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88207234.	NM_015087.5(SPART):c.*2035T>C GRCh37: Chr13:36876467 GRCh38: Chr13:36302330	SPART		Troyer syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88207135.	NM_015087.5(SPART):c.*2053C>T GRCh37: Chr13:36876449 GRCh38: Chr13:36302312	SPART		Troyer syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88079336.	NM_015087.5(SPART):c.123A>C (p.Glu41Asp) GRCh37: Chr13:36909845 GRCh38: Chr13:36335708	SPART	E41D	Troyer syndrome, not provided	Uncertain significance (Apr 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88079237.	NM_015087.5(SPART):c.292G>A (p.Gly98Ser) GRCh37: Chr13:36909676 GRCh38: Chr13:36335539	SPART	G98S	Troyer syndrome, not provided	Uncertain significance (Jan 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88079138.	NM_015087.5(SPART):c.450A>G (p.Ala150=) GRCh37: Chr13:36909518 GRCh38: Chr13:36335381	SPART		Troyer syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88072739.	NM_015087.5(SPART):c.*644G>A GRCh37: Chr13:36877858 GRCh38: Chr13:36303721	SPART		Troyer syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88072640.	NM_015087.5(SPART):c.*715C>T GRCh37: Chr13:36877787 GRCh38: Chr13:36303650	SPART		Troyer syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88072541.	NM_015087.5(SPART):c.*758A>G GRCh37: Chr13:36877744 GRCh38: Chr13:36303607	SPART		Troyer syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88066342.	NM_015087.5(SPART):c.*2071T>C GRCh37: Chr13:36876431 GRCh38: Chr13:36302294	SPART		Troyer syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88066243.	NM_015087.5(SPART):c.*2280T>C GRCh37: Chr13:36876222 GRCh38: Chr13:36302085	SPART		Troyer syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 63170044.	NM_015087.5(SPART):c.475_476del (p.Leu159fs) GRCh37: Chr13:36909492-36909493 GRCh38: Chr13:36335355-36335356	SPART	L159fs	Troyer syndrome, not provided	Conflicting interpretations of pathogenicity (Jul 25, 2022)	criteria provided, conflicting interpretations
Select item 51259845.	NM_015087.5(SPART):c.1769C>T (p.Ala590Val) GRCh37: Chr13:36878734 GRCh38: Chr13:36304597	SPART	A590V	Troyer syndrome, not provided	Conflicting interpretations of pathogenicity (May 20, 2022)	criteria provided, conflicting interpretations
Select item 51258046.	NM_015087.5(SPART):c.-8G>A GRCh37: Chr13:36920367 GRCh38: Chr13:36346230	SPART		not specified, Troyer syndrome	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 46120147.	NM_015087.5(SPART):c.1227A>G (p.Pro409=) GRCh37: Chr13:36900773 GRCh38: Chr13:36326636	SPART		Troyer syndrome	Likely benign (Jun 19, 2017)	criteria provided, single submitter
Select item 46120048.	NM_015087.5(SPART):c.1130A>T (p.Lys377Met) GRCh37: Chr13:36903533 GRCh38: Chr13:36329396	SPART	K377M	Troyer syndrome, not provided	Conflicting interpretations of pathogenicity (Oct 30, 2022)	criteria provided, conflicting interpretations
Select item 38093049.	NM_015087.5(SPART):c.363C>T (p.Asp121=) GRCh37: Chr13:36909605 GRCh38: Chr13:36335468	SPART		Troyer syndrome, not specified, Hereditary spastic paraplegia, not provided	Conflicting interpretations of pathogenicity (Oct 23, 2022)	criteria provided, conflicting interpretations
Select item 37983250.	NM_015087.5(SPART):c.1369C>T (p.Arg457Ter) GRCh37: Chr13:36888478 GRCh38: Chr13:36314341	SPART	R457*	Neurodevelopmental delay, Troyer syndrome, not provided	Pathogenic (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31177751.	NM_015087.4(SPART):c.-261T>G GRCh37: Chr13:36920620 GRCh38: Chr13:36346483	SPART, SPART-AS1		Troyer syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 31177652.	NM_015087.4(SPART):c.-253G>A GRCh37: Chr13:36920612 GRCh38: Chr13:36346475	SPART, SPART-AS1		not provided, Troyer syndrome	Benign/Likely benign (Mar 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31177553.	NM_015087.4(SPART):c.-249_-248TG[1] GRCh37: Chr13:36920605-36920606 GRCh38: Chr13:36346468-36346469	SPART, SPART-AS1		Troyer syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 31177454.	NM_015087.5(SPART):c.-145G>A GRCh37: Chr13:36920504 GRCh38: Chr13:36346367	SPART		Troyer syndrome, not provided	Benign/Likely benign (May 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 31177355.	NM_015087.5(SPART):c.-118C>A GRCh37: Chr13:36920477 GRCh38: Chr13:36346340	SPART		Troyer syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31177256.	NM_015087.5(SPART):c.-33C>T GRCh37: Chr13:36920392 GRCh38: Chr13:36346255	SPART		Troyer syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31177157.	NM_015087.5(SPART):c.360A>G (p.Lys120=) GRCh37: Chr13:36909608 GRCh38: Chr13:36335471	SPART		not provided, Troyer syndrome	Conflicting interpretations of pathogenicity (Sep 14, 2022)	criteria provided, conflicting interpretations
Select item 31177058.	NM_015087.5(SPART):c.627G>A (p.Pro209=) GRCh37: Chr13:36909341 GRCh38: Chr13:36335204	SPART		Troyer syndrome, not provided	Conflicting interpretations of pathogenicity (May 12, 2022)	criteria provided, conflicting interpretations
Select item 31176959.	NM_015087.5(SPART):c.686A>G (p.Gln229Arg) GRCh37: Chr13:36909282 GRCh38: Chr13:36335145	SPART	Q229R	Troyer syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31176860.	NM_015087.5(SPART):c.852G>A (p.Pro284=) GRCh37: Chr13:36905692 GRCh38: Chr13:36331555	SPART		Troyer syndrome, not provided	Conflicting interpretations of pathogenicity (Sep 7, 2022)	criteria provided, conflicting interpretations
Select item 31176761.	NM_015087.5(SPART):c.1414G>T (p.Ala472Ser) GRCh37: Chr13:36888433 GRCh38: Chr13:36314296	SPART	A472S	Troyer syndrome, not provided	Conflicting interpretations of pathogenicity (Aug 19, 2022)	criteria provided, conflicting interpretations
Select item 31176662.	NM_015087.5(SPART):c.1470C>T (p.Val490=) GRCh37: Chr13:36888377 GRCh38: Chr13:36314240	SPART		Troyer syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31176563.	NM_015087.5(SPART):c.1745A>T (p.Asn582Ile) GRCh37: Chr13:36878758 GRCh38: Chr13:36304621	SPART	N582I	Troyer syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31176464.	NM_015087.5(SPART):c.1954G>A (p.Asp652Asn) GRCh37: Chr13:36878549 GRCh38: Chr13:36304412	SPART	D652N	not provided, Troyer syndrome	Uncertain significance (Oct 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31176365.	NM_015087.5(SPART):c.1964C>T (p.Thr655Met) GRCh37: Chr13:36878539 GRCh38: Chr13:36304402	SPART	T655M	not provided, Troyer syndrome	Uncertain significance (Dec 3, 2021)	criteria provided, multiple submitters, no conflicts
Select item 31176266.	NM_015087.5(SPART):c.*285del GRCh37: Chr13:36878217 GRCh38: Chr13:36304080	SPART		Troyer syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 31176167.	NM_015087.5(SPART):c.*446T>C GRCh37: Chr13:36878056 GRCh38: Chr13:36303919	SPART		Troyer syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31176068.	NM_015087.5(SPART):c.*451G>A GRCh37: Chr13:36878051 GRCh38: Chr13:36303914	SPART		Troyer syndrome	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31175969.	NM_015087.5(SPART):c.*524A>G GRCh37: Chr13:36877978 GRCh38: Chr13:36303841	SPART		Troyer syndrome	Likely benign (Apr 27, 2017)	criteria provided, single submitter
Select item 31175870.	NM_015087.5(SPART):c.*608C>T GRCh37: Chr13:36877894 GRCh38: Chr13:36303757	SPART		Troyer syndrome	Likely benign (Apr 27, 2017)	criteria provided, single submitter
Select item 31175771.	NM_015087.5(SPART):c.*624A>G GRCh37: Chr13:36877878 GRCh38: Chr13:36303741	SPART		Troyer syndrome	Benign (Apr 27, 2017)	criteria provided, single submitter
Select item 31175672.	NM_015087.5(SPART):c.*699GTATT[1] GRCh37: Chr13:36877794-36877798 GRCh38: Chr13:36303657-36303661	SPART		Troyer syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 31175573.	NM_015087.5(SPART):c.*716G>A GRCh37: Chr13:36877786 GRCh38: Chr13:36303649	SPART		Troyer syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31175474.	NM_015087.5(SPART):c.*734T>C GRCh37: Chr13:36877768 GRCh38: Chr13:36303631	SPART		Troyer syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31175375.	NM_015087.5(SPART):c.*817A>T GRCh37: Chr13:36877685 GRCh38: Chr13:36303548	SPART		Troyer syndrome	Likely benign (Apr 27, 2017)	criteria provided, single submitter
Select item 31175276.	NM_015087.5(SPART):c.*846G>A GRCh37: Chr13:36877656 GRCh38: Chr13:36303519	SPART		Troyer syndrome	Likely benign (Apr 27, 2017)	criteria provided, single submitter
Select item 31175177.	NM_015087.5(SPART):c.*924C>A GRCh37: Chr13:36877578 GRCh38: Chr13:36303441	SPART		Troyer syndrome	Likely benign (Apr 27, 2017)	criteria provided, single submitter
Select item 31175078.	NM_015087.5(SPART):c.*1014A>G GRCh37: Chr13:36877488 GRCh38: Chr13:36303351	SPART		Troyer syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31174979.	NM_015087.5(SPART):c.*1456G>A GRCh37: Chr13:36877046 GRCh38: Chr13:36302909	SPART		Troyer syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31174880.	NM_015087.5(SPART):c.*1550A>G GRCh37: Chr13:36876952 GRCh38: Chr13:36302815	SPART		Troyer syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31174781.	NM_015087.5(SPART):c.*1794A>G GRCh37: Chr13:36876708 GRCh38: Chr13:36302571	SPART		Troyer syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31174682.	NM_015087.5(SPART):c.*1799G>A GRCh37: Chr13:36876703 GRCh38: Chr13:36302566	SPART		Troyer syndrome	Likely benign (Apr 27, 2017)	criteria provided, single submitter
Select item 31174583.	NM_015087.5(SPART):c.*1848A>C GRCh37: Chr13:36876654 GRCh38: Chr13:36302517	SPART		Troyer syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31174484.	NM_015087.5(SPART):c.*1892G>A GRCh37: Chr13:36876610 GRCh38: Chr13:36302473	SPART		Troyer syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31174385.	NM_015087.5(SPART):c.*2123T>C GRCh37: Chr13:36876379 GRCh38: Chr13:36302242	SPART		Troyer syndrome	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 31174286.	NM_015087.5(SPART):c.2127_2130del GRCh37: Chr13:36876372-36876375 GRCh38: Chr13:36302235-36302238	SPART		Troyer syndrome	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 31174187.	NM_015087.5(SPART):c.2150_2154del GRCh37: Chr13:36876348-36876352 GRCh38: Chr13:36302211-36302215	SPART		Troyer syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 31174088.	NM_015087.5(SPART):c.*2204C>T GRCh37: Chr13:36876298 GRCh38: Chr13:36302161	SPART		Troyer syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31173989.	NM_015087.5(SPART):c.*2256G>A GRCh37: Chr13:36876246 GRCh38: Chr13:36302109	SPART		Troyer syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31173890.	NM_015087.5(SPART):c.*2299T>C GRCh37: Chr13:36876203 GRCh38: Chr13:36302066	SPART		Troyer syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 31173791.	NM_015087.5(SPART):c.*2343T>C GRCh37: Chr13:36876159 GRCh38: Chr13:36302022	SPART		Troyer syndrome	Likely benign (Apr 27, 2017)	criteria provided, single submitter
Select item 31173692.	NM_015087.5(SPART):c.*2454A>T GRCh37: Chr13:36876048 GRCh38: Chr13:36301911	SPART		Troyer syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 24096293.	NM_015087.5(SPART):c.1155T>G (p.Arg385=) GRCh37: Chr13:36903508 GRCh38: Chr13:36329371	SPART		not provided, Troyer syndrome	Conflicting interpretations of pathogenicity (Oct 27, 2022)	criteria provided, conflicting interpretations
Select item 21668894.	NM_015087.5(SPART):c.361G>T (p.Asp121Tyr) GRCh37: Chr13:36909607 GRCh38: Chr13:36335470	SPART	D121Y	not specified, not provided, Hereditary spastic paraplegia, Troyer syndrome	Conflicting interpretations of pathogenicity (Oct 13, 2022)	criteria provided, conflicting interpretations
Select item 21668795.	NM_015087.5(SPART):c.1172A>G (p.Asp391Gly) GRCh37: Chr13:36900828 GRCh38: Chr13:36326691	SPART	D391G	Inborn genetic diseases, not specified, Hereditary spastic paraplegia, Troyer syndrome, not provided	Conflicting interpretations of pathogenicity (Jun 6, 2023)	criteria provided, conflicting interpretations
Select item 21588496.	NM_015087.5(SPART):c.75A>G (p.Leu25=) GRCh37: Chr13:36909893 GRCh38: Chr13:36335756	SPART		not specified, Hereditary spastic paraplegia, Troyer syndrome, not provided	Conflicting interpretations of pathogenicity (Oct 17, 2022)	criteria provided, conflicting interpretations
Select item 18327797.	NM_015087.5(SPART):c.1450dup (p.Thr484fs) GRCh37: Chr13:36888396-36888397 GRCh38: Chr13:36314259-36314260	SPART	T484fs	Troyer syndrome	Pathogenic (May 3, 2020)	criteria provided, single submitter
Select item 13036898.	NM_015087.5(SPART):c.1629A>G (p.Ala543=) GRCh37: Chr13:36886469 GRCh38: Chr13:36312332	SPART		not specified, not provided, Hereditary spastic paraplegia, Troyer syndrome	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12642599.	NC_000004.11:g.92981313_93256907del GRCh37: Chr4:92981313-93256907 GRCh38: Chr4:92060162-92335756	LNCPRESS2, LOC123477787, LOC126807111, GRID2		Troyer syndrome	Uncertain significance (Mar 6, 2018)	no assertion criteria provided
Select item 3458100.	NM_015087.5(SPART):c.364_365del (p.Met122fs) GRCh37: Chr13:36909603-36909604 GRCh38: Chr13:36335466-36335467	SPART	M122fs	Inborn genetic diseases, not provided, Troyer syndrome, Neurodevelopmental delay	Conflicting interpretations of pathogenicity (Jul 20, 2022)	criteria provided, conflicting interpretations

<< First< Prev

Page of 2