ClinVar for MedGen (Select 98277) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26274691.	NM_033305.3(VPS13A):c.9067_9069delinsTGG (p.Gly3023Trp) GRCh37: Chr9:79986055-79986057 GRCh38: Chr9:77371139-77371141	VPS13A	G2984W, G3023W	Chorea-acanthocytosis	Uncertain significance	criteria provided, single submitter
Select item 26274682.	NM_033305.3(VPS13A):c.3114del (p.Lys1038fs) GRCh37: Chr9:79897181 GRCh38: Chr9:77282265	VPS13A	K1038fs	Chorea-acanthocytosis	Likely pathogenic	criteria provided, single submitter
Select item 25854403.	NM_033305.3(VPS13A):c.6379-1G>C GRCh37: Chr9:79954431 GRCh38: Chr9:77339515	VPS13A		Chorea-acanthocytosis	Likely pathogenic	criteria provided, single submitter
Select item 25847374.	NM_033305.3(VPS13A):c.8148del (p.Phe2719fs) GRCh37: Chr9:79975494 GRCh38: Chr9:77360578	VPS13A	F2680fs, F2719fs	Chorea-acanthocytosis	Pathogenic	criteria provided, single submitter
Select item 25847365.	NM_033305.3(VPS13A):c.5899del (p.Arg1967fs) GRCh37: Chr9:79938050 GRCh38: Chr9:77323134	VPS13A	R1928fs, R1967fs	Chorea-acanthocytosis	Pathogenic	criteria provided, single submitter
Select item 25050726.	NM_033305.3(VPS13A):c.8737G>A (p.Ala2913Thr) GRCh37: Chr9:79985242 GRCh38: Chr9:77370326	VPS13A	A2874T, A2913T	Chorea-acanthocytosis	not provided	no assertion provided
Select item 24385287.	NM_033305.3(VPS13A):c.6297G>C (p.Trp2099Cys) GRCh37: Chr9:79952372 GRCh38: Chr9:77337456	VPS13A	W2060C, W2099C	Chorea-acanthocytosis	Uncertain significance (Jan 25, 2019)	criteria provided, single submitter
Select item 24345378.	NM_033305.3(VPS13A):c.9243_9246del (p.Asn3082fs) GRCh37: Chr9:80018203-80018206 GRCh38: Chr9:77403287-77403290	VPS13A	N3043fs, N3082fs	Chorea-acanthocytosis	Likely pathogenic (Nov 30, 2022)	criteria provided, single submitter
Select item 24345209.	NM_033305.3(VPS13A):c.844_848del (p.Glu282fs) GRCh37: Chr9:79834957-79834961 GRCh38: Chr9:77220041-77220045	VPS13A	E282fs	Chorea-acanthocytosis	Likely pathogenic (Feb 17, 2022)	criteria provided, single submitter
Select item 243103910.	NM_033305.3(VPS13A):c.3743_3746dup (p.Ser1249fs) GRCh37: Chr9:79910690-79910691 GRCh38: Chr9:77295774-77295775	VPS13A	S1210fs, S1249fs	Chorea-acanthocytosis	Likely pathogenic (Mar 1, 2023)	criteria provided, single submitter
Select item 241507911.	NM_033305.3(VPS13A):c.811G>T (p.Asp271Tyr) GRCh37: Chr9:79834926 GRCh38: Chr9:77220010	VPS13A	D271Y	not provided, Chorea-acanthocytosis	Uncertain significance (May 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 170945312.	NM_033305.3(VPS13A):c.7214T>G (p.Leu2405Ter) GRCh37: Chr9:79959983 GRCh38: Chr9:77345067	VPS13A	L2366, L2405	Chorea-acanthocytosis, not provided	Pathogenic (May 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 169881413.	NM_033305.3(VPS13A):c.1A>T (p.Met1Leu) GRCh37: Chr9:79792621 GRCh38: Chr9:77177705	VPS13A, VPS13A-AS1	M1L	Chorea-acanthocytosis	Likely pathogenic (Feb 7, 2022)	criteria provided, single submitter
Select item 169182014.	NM_033305.3(VPS13A):c.9263T>G (p.Met3088Arg) GRCh37: Chr9:80018225 GRCh38: Chr9:77403309	VPS13A	M3049R, M3088R	Chorea-acanthocytosis	Likely pathogenic	criteria provided, single submitter
Select item 168465015.	Single allele GRCh38: Chr9:77246154-77259082	VPS13A		Chorea-acanthocytosis	Likely pathogenic (Aug 18, 2021)	criteria provided, single submitter
Select item 168367416.	NM_033305.3(VPS13A):c.5687T>C (p.Phe1896Ser) GRCh37: Chr9:79936519 GRCh38: Chr9:77321603	VPS13A	F1857S, F1896S	Chorea-acanthocytosis	Uncertain significance (Jul 15, 2021)	criteria provided, single submitter
Select item 160963417.	NM_033305.3(VPS13A):c.4630+17A>G GRCh37: Chr9:79930403 GRCh38: Chr9:77315487	VPS13A		not provided, Chorea-acanthocytosis	Benign/Likely benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 145899818.	NM_033305.3(VPS13A):c.7867C>T (p.Arg2623Ter) GRCh37: Chr9:79972668 GRCh38: Chr9:77357752	VPS13A	R2584, R2623	not provided, Chorea-acanthocytosis	Pathogenic/Likely pathogenic (Sep 29, 2023)	criteria provided, multiple submitters, no conflicts
Select item 145654019.	NM_033305.3(VPS13A):c.2500del (p.Val834fs) GRCh37: Chr9:79888268 GRCh38: Chr9:77273352	VPS13A	V834fs	Chorea-acanthocytosis, not provided	Pathogenic/Likely pathogenic (Aug 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 140960520.	NM_033305.3(VPS13A):c.6096-3C>A GRCh37: Chr9:79952168 GRCh38: Chr9:77337252	VPS13A		Chorea-acanthocytosis, not provided	Uncertain significance (Mar 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 137500121.	NM_033305.3(VPS13A):c.4246dup (p.Ser1416fs) GRCh37: Chr9:79929412-79929413 GRCh38: Chr9:77314496-77314497	VPS13A	S1377fs, S1416fs	Chorea-acanthocytosis, not provided	Pathogenic/Likely pathogenic (Oct 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134798422.	NM_033305.3(VPS13A):c.8325+1G>A GRCh37: Chr9:79980490 GRCh38: Chr9:77365574	VPS13A		Chorea-acanthocytosis, not provided	Likely pathogenic (May 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134288423.	NM_033305.3(VPS13A):c.7489C>T (p.Arg2497Cys) GRCh37: Chr9:79968394 GRCh38: Chr9:77353478	VPS13A	R2458C, R2497C	Chorea-acanthocytosis	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 134288324.	NM_033305.3(VPS13A):c.4715del (p.Asn1572fs) GRCh37: Chr9:79931169 GRCh38: Chr9:77316253	VPS13A	N1533fs, N1572fs	Chorea-acanthocytosis	Likely pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 133404725.	NM_033305.3(VPS13A):c.5599T>A (p.Ser1867Thr) GRCh37: Chr9:79936431 GRCh38: Chr9:77321515	VPS13A	S1828T, S1867T	Chorea-acanthocytosis	Uncertain significance (Dec 15, 2020)	criteria provided, single submitter
Select item 132534026.	NM_033305.3(VPS13A):c.14C>A (p.Ser5Ter) GRCh37: Chr9:79792634 GRCh38: Chr9:77177718	VPS13A, VPS13A-AS1	S5*	Chorea-acanthocytosis	Likely pathogenic (Mar 15, 2021)	criteria provided, single submitter
Select item 132374927.	NM_033305.3(VPS13A):c.6367_6374del (p.Tyr2123fs) GRCh37: Chr9:79952441-79952448 GRCh38: Chr9:77337525-77337532	VPS13A	Y2084fs, Y2123fs	Chorea-acanthocytosis	Pathogenic (Oct 3, 2019)	criteria provided, single submitter
Select item 132374828.	NM_033305.3(VPS13A):c.7419+1G>A GRCh37: Chr9:79966363 GRCh38: Chr9:77351447	VPS13A		Chorea-acanthocytosis	Pathogenic (Dec 12, 2019)	criteria provided, single submitter
Select item 127469129.	NM_033305.3(VPS13A):c.6379-7A>T GRCh37: Chr9:79954425 GRCh38: Chr9:77339509	VPS13A		not provided	Benign/Likely benign (Sep 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 126256030.	NM_033305.3(VPS13A):c.2288+20T>C GRCh37: Chr9:79867288 GRCh38: Chr9:77252372	VPS13A		not provided, Chorea-acanthocytosis	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 121188131.	NM_033305.3(VPS13A):c.2395A>T (p.Thr799Ser) GRCh37: Chr9:79875108 GRCh38: Chr9:77260192	VPS13A	T799S	Inborn genetic diseases, not provided	Uncertain significance (Sep 26, 2023)	criteria provided, multiple submitters, no conflicts
Select item 120966832.	NM_033305.3(VPS13A):c.5855A>G (p.Asp1952Gly) GRCh37: Chr9:79938007 GRCh38: Chr9:77323091	VPS13A	D1913G, D1952G	Chorea-acanthocytosis	Uncertain significance (Jul 22, 2021)	criteria provided, single submitter
Select item 120836633.	NM_033305.3(VPS13A):c.505C>T (p.Arg169Trp) GRCh37: Chr9:79825541 GRCh38: Chr9:77210625	VPS13A	R169W	not provided	Uncertain significance (Jul 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 118529534.	NM_033305.3(VPS13A):c.7027-54A>G GRCh37: Chr9:79959015 GRCh38: Chr9:77344099	VPS13A		Chorea-acanthocytosis, not provided	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118529435.	NM_033305.3(VPS13A):c.7026+62A>G GRCh37: Chr9:79955528 GRCh38: Chr9:77340612	VPS13A		Chorea-acanthocytosis, not provided	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118529336.	NM_033305.3(VPS13A):c.6379-27G>T GRCh37: Chr9:79954405 GRCh38: Chr9:77339489	VPS13A		Chorea-acanthocytosis, not provided	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118529237.	NM_033305.3(VPS13A):c.3961-22A>G GRCh37: Chr9:79922839 GRCh38: Chr9:77307923	VPS13A		Chorea-acanthocytosis, not provided	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118529138.	NM_033305.3(VPS13A):c.3813-171C>G GRCh37: Chr9:79917660 GRCh38: Chr9:77302744	VPS13A		Chorea-acanthocytosis, not provided	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118529039.	NM_033305.3(VPS13A):c.3508-44G>T GRCh37: Chr9:79910414 GRCh38: Chr9:77295498	VPS13A		Chorea-acanthocytosis, not provided	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118528940.	NM_033305.3(VPS13A):c.3508-51A>G GRCh37: Chr9:79910407 GRCh38: Chr9:77295491	VPS13A		Chorea-acanthocytosis, not provided	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118528841.	NM_033305.3(VPS13A):c.3118+66A>C GRCh37: Chr9:79897256 GRCh38: Chr9:77282340	VPS13A		Chorea-acanthocytosis	Benign (Jul 10, 2021)	criteria provided, single submitter
Select item 118528742.	NM_033305.3(VPS13A):c.2825-63T>G GRCh37: Chr9:79895012 GRCh38: Chr9:77280096	VPS13A		Chorea-acanthocytosis, not provided	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118528643.	NM_033305.3(VPS13A):c.2512+116A>G GRCh37: Chr9:79888396 GRCh38: Chr9:77273480	VPS13A		not provided, Chorea-acanthocytosis	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118528544.	NM_033305.3(VPS13A):c.2428-50G>A GRCh37: Chr9:79888146 GRCh38: Chr9:77273230	VPS13A		Chorea-acanthocytosis, not provided	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118525945.	NM_033305.3(VPS13A):c.2170+42G>A GRCh37: Chr9:79865187 GRCh38: Chr9:77250271	VPS13A		Chorea-acanthocytosis, not provided	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118525846.	NM_033305.3(VPS13A):c.2037+191T>C GRCh37: Chr9:79862502 GRCh38: Chr9:77247586	VPS13A		Chorea-acanthocytosis, not provided	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118525747.	NM_033305.3(VPS13A):c.1901-215G>A GRCh37: Chr9:79861960 GRCh38: Chr9:77247044	VPS13A		Chorea-acanthocytosis, not provided	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118525648.	NM_033305.3(VPS13A):c.1596-31C>T GRCh37: Chr9:79852887 GRCh38: Chr9:77237971	VPS13A		Chorea-acanthocytosis, not provided	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118525549.	NM_033305.3(VPS13A):c.883-16A>C GRCh37: Chr9:79835177 GRCh38: Chr9:77220261	VPS13A		not provided, Chorea-acanthocytosis	Benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 118525450.	NM_033305.3(VPS13A):c.616-47A>T GRCh37: Chr9:79828103 GRCh38: Chr9:77213187	VPS13A		Chorea-acanthocytosis	Likely benign (Jul 10, 2021)	criteria provided, single submitter
Select item 118525351.	NM_033305.3(VPS13A):c.615+20G>C GRCh37: Chr9:79827964 GRCh38: Chr9:77213048	VPS13A		not provided, Chorea-acanthocytosis	Benign/Likely benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 118525252.	NM_033305.3(VPS13A):c.101-62A>G GRCh37: Chr9:79814799 GRCh38: Chr9:77199883	VPS13A		not provided, Chorea-acanthocytosis	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118516653.	NM_033305.3(VPS13A):c.9400-34A>T GRCh37: Chr9:80022415 GRCh38: Chr9:77407499	VPS13A		not provided, Chorea-acanthocytosis	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118516554.	NM_033305.3(VPS13A):c.9078-133A>G GRCh37: Chr9:79996759 GRCh38: Chr9:77381843	VPS13A		not provided, Chorea-acanthocytosis	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118516455.	NM_033305.3(VPS13A):c.8667+106A>G GRCh37: Chr9:79984434 GRCh38: Chr9:77369518	VPS13A		not provided, Chorea-acanthocytosis	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118516356.	NM_033305.3(VPS13A):c.8553+31G>C GRCh37: Chr9:79983083 GRCh38: Chr9:77368167	VPS13A		not provided, Chorea-acanthocytosis	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118516257.	NM_033305.3(VPS13A):c.8105+81G>A GRCh37: Chr9:79974399 GRCh38: Chr9:77359483	VPS13A		not provided, Chorea-acanthocytosis	Benign (Jul 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118455758.	NM_033305.3(VPS13A):c.672_676del (p.Tyr224_Ser226delinsTer) GRCh37: Chr9:79828203-79828207 GRCh38: Chr9:77213287-77213291	VPS13A		Chorea-acanthocytosis	Pathogenic	no assertion criteria provided
Select item 117045359.	NM_033305.3(VPS13A):c.385+6_385+15del GRCh37: Chr9:79821000-79821009 GRCh38: Chr9:77206084-77206093	VPS13A		not provided, not specified	Benign (Feb 13, 2023)	criteria provided, multiple submitters, no conflicts
Select item 116451160.	NM_033305.3(VPS13A):c.1212G>A (p.Thr404=) GRCh37: Chr9:79840892 GRCh38: Chr9:77225976	VPS13A		not provided	Benign (Sep 13, 2022)	criteria provided, single submitter
Select item 115384161.	NM_033305.3(VPS13A):c.8211+9del GRCh37: Chr9:79975565 GRCh38: Chr9:77360649	VPS13A		not provided	Likely benign (Sep 22, 2022)	criteria provided, single submitter
Select item 115219362.	NM_033305.3(VPS13A):c.6984T>C (p.Ala2328=) GRCh37: Chr9:79955424 GRCh38: Chr9:77340508	VPS13A		not provided	Likely benign (Oct 11, 2022)	criteria provided, single submitter
Select item 114964963.	NM_033305.3(VPS13A):c.8982C>T (p.Phe2994=) GRCh37: Chr9:79985970 GRCh38: Chr9:77371054	VPS13A		not provided, Chorea-acanthocytosis	Conflicting interpretations of pathogenicity (Jul 15, 2021)	criteria provided, conflicting interpretations
Select item 114468164.	NM_033305.3(VPS13A):c.9105T>C (p.Ser3035=) GRCh37: Chr9:79996919 GRCh38: Chr9:77382003	VPS13A		not provided	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 112651965.	NM_033305.3(VPS13A):c.8668-10G>C GRCh37: Chr9:79985163 GRCh38: Chr9:77370247	VPS13A		not provided	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 112625366.	NM_033305.3(VPS13A):c.9492A>G (p.Leu3164=) GRCh37: Chr9:80030889 GRCh38: Chr9:77415973	VPS13A		not provided	Likely benign (Oct 31, 2022)	criteria provided, single submitter
Select item 112568467.	NM_033305.3(VPS13A):c.5721T>C (p.Tyr1907=) GRCh37: Chr9:79936553 GRCh38: Chr9:77321637	VPS13A		not provided	Likely benign (Sep 12, 2022)	criteria provided, single submitter
Select item 111675868.	NM_033305.3(VPS13A):c.2160C>T (p.Tyr720=) GRCh37: Chr9:79865135 GRCh38: Chr9:77250219	VPS13A		not provided	Likely benign (May 3, 2022)	criteria provided, single submitter
Select item 111307669.	NM_033305.3(VPS13A):c.846G>A (p.Glu282=) GRCh37: Chr9:79834961 GRCh38: Chr9:77220045	VPS13A		not provided	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 110262570.	NM_033305.3(VPS13A):c.284-4A>G GRCh37: Chr9:79820890 GRCh38: Chr9:77205974	VPS13A		not provided	Likely benign (Oct 21, 2022)	criteria provided, single submitter
Select item 109132871.	NM_033305.3(VPS13A):c.7851G>A (p.Pro2617=) GRCh37: Chr9:79972652 GRCh38: Chr9:77357736	VPS13A		not provided	Likely benign (Sep 20, 2022)	criteria provided, single submitter
Select item 108356472.	NM_033305.3(VPS13A):c.4386A>G (p.Arg1462=) GRCh37: Chr9:79929554 GRCh38: Chr9:77314638	VPS13A		not provided	Likely benign (Apr 9, 2022)	criteria provided, single submitter
Select item 107092973.	NM_033305.3(VPS13A):c.3232G>T (p.Glu1078Ter) GRCh37: Chr9:79898384 GRCh38: Chr9:77283468	VPS13A	E1078*	not provided, Chorea-acanthocytosis	Pathogenic (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106930474.	NM_033305.3(VPS13A):c.8375C>G (p.Ser2792Ter) GRCh37: Chr9:79981692 GRCh38: Chr9:77366776	VPS13A	S2753, S2792	not provided, Chorea-acanthocytosis	Pathogenic/Likely pathogenic (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106647675.	NM_033305.3(VPS13A):c.8668-1G>A GRCh37: Chr9:79985172 GRCh38: Chr9:77370256	VPS13A		not provided	Likely pathogenic (Sep 26, 2022)	criteria provided, single submitter
Select item 105033776.	NM_033305.3(VPS13A):c.5246C>T (p.Ser1749Leu) GRCh37: Chr9:79933440 GRCh38: Chr9:77318524	VPS13A	S1710L, S1749L	not provided, Chorea-acanthocytosis	Uncertain significance (Oct 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 102851577.	NM_033305.3(VPS13A):c.6818C>A (p.Ser2273Ter) GRCh37: Chr9:79955137 GRCh38: Chr9:77340221	VPS13A	S2273, S2234	Chorea-acanthocytosis	Likely pathogenic (Jun 3, 2020)	criteria provided, single submitter
Select item 102851478.	NM_033305.3(VPS13A):c.5765C>A (p.Thr1922Asn) GRCh37: Chr9:79936597 GRCh38: Chr9:77321681	VPS13A	T1922N, T1883N	not provided, Chorea-acanthocytosis	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102851379.	NM_033305.3(VPS13A):c.5157C>T (p.Gly1719=) GRCh37: Chr9:79933351 GRCh38: Chr9:77318435	VPS13A		Chorea-acanthocytosis	Uncertain significance (Jul 9, 2020)	criteria provided, single submitter
Select item 102851280.	NM_033305.3(VPS13A):c.2326C>T (p.Arg776Ter) GRCh37: Chr9:79875039 GRCh38: Chr9:77260123	VPS13A	R776*	not provided, Chorea-acanthocytosis	Pathogenic (Apr 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 100802881.	NM_033305.3(VPS13A):c.5041T>G (p.Ser1681Ala) GRCh37: Chr9:79933235 GRCh38: Chr9:77318319	VPS13A	S1642A, S1681A	not provided	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 99535782.	NM_033305.3(VPS13A):c.8233A>G (p.Ile2745Val) GRCh37: Chr9:79980397 GRCh38: Chr9:77365481	VPS13A	I2706V, I2745V	not provided	Uncertain significance (Nov 14, 2019)	criteria provided, single submitter
Select item 98959283.	NM_033305.3(VPS13A):c.7273G>A (p.Val2425Ile) GRCh37: Chr9:79960042 GRCh38: Chr9:77345126	VPS13A	V2386I, V2425I	not provided	Uncertain significance (Dec 20, 2022)	criteria provided, single submitter
Select item 98959184.	NM_033305.3(VPS13A):c.7129T>C (p.Cys2377Arg) GRCh37: Chr9:79959171 GRCh38: Chr9:77344255	VPS13A	C2338R, C2377R	Chorea-acanthocytosis	Uncertain significance (Aug 13, 2020)	no assertion criteria provided
Select item 98959085.	NM_033305.3(VPS13A):c.6200G>A (p.Cys2067Tyr) GRCh37: Chr9:79952275 GRCh38: Chr9:77337359	VPS13A	C2028Y, C2067Y	Chorea-acanthocytosis	Uncertain significance (Sep 4, 2020)	no assertion criteria provided
Select item 98958986.	NM_033305.3(VPS13A):c.5898A>G (p.Val1966=) GRCh37: Chr9:79938050 GRCh38: Chr9:77323134	VPS13A		not provided	Likely benign (Aug 1, 2022)	criteria provided, single submitter
Select item 98958887.	NM_033305.3(VPS13A):c.5753A>G (p.Asp1918Gly) GRCh37: Chr9:79936585 GRCh38: Chr9:77321669	VPS13A	D1879G, D1918G	Chorea-acanthocytosis	Uncertain significance (Oct 29, 2020)	no assertion criteria provided
Select item 98958788.	NM_033305.3(VPS13A):c.5248C>T (p.Arg1750Cys) GRCh37: Chr9:79933442 GRCh38: Chr9:77318526	VPS13A	R1711C, R1750C	Chorea-acanthocytosis	Uncertain significance (Aug 14, 2020)	no assertion criteria provided
Select item 98958689.	NM_033305.3(VPS13A):c.5003T>G (p.Leu1668Arg) GRCh37: Chr9:79933197 GRCh38: Chr9:77318281	VPS13A	L1629R, L1668R	Chorea-acanthocytosis	Uncertain significance (Aug 13, 2020)	no assertion criteria provided
Select item 98958590.	NM_033305.3(VPS13A):c.4765G>A (p.Gly1589Ser) GRCh37: Chr9:79931224 GRCh38: Chr9:77316308	VPS13A	G1550S, G1589S	Chorea-acanthocytosis	Uncertain significance (Aug 13, 2020)	no assertion criteria provided
Select item 98958491.	NM_033305.3(VPS13A):c.4470G>A (p.Arg1490=) GRCh37: Chr9:79930226 GRCh38: Chr9:77315310	VPS13A		not provided	Likely benign (Oct 8, 2022)	criteria provided, single submitter
Select item 98958392.	NM_033305.3(VPS13A):c.4185C>T (p.Asn1395=) GRCh37: Chr9:79928978 GRCh38: Chr9:77314062	VPS13A		not provided	Likely benign (Mar 26, 2021)	criteria provided, single submitter
Select item 98958293.	NM_033305.3(VPS13A):c.3658A>C (p.Ile1220Leu) GRCh37: Chr9:79910608 GRCh38: Chr9:77295692	VPS13A	I1181L, I1220L	Chorea-acanthocytosis	Uncertain significance (Jul 23, 2020)	no assertion criteria provided
Select item 98958194.	NM_033305.3(VPS13A):c.3556A>G (p.Thr1186Ala) GRCh37: Chr9:79910506 GRCh38: Chr9:77295590	VPS13A	T1147A, T1186A	Chorea-acanthocytosis	Uncertain significance (Aug 13, 2020)	no assertion criteria provided
Select item 98958095.	NM_033305.3(VPS13A):c.2982G>C (p.Leu994Phe) GRCh37: Chr9:79897054 GRCh38: Chr9:77282138	VPS13A	L994F	Chorea-acanthocytosis	Uncertain significance (Aug 14, 2020)	no assertion criteria provided
Select item 98957996.	NM_033305.3(VPS13A):c.2783C>T (p.Ala928Val) GRCh37: Chr9:79891096 GRCh38: Chr9:77276180	VPS13A	A928V	Chorea-acanthocytosis	Uncertain significance (Aug 14, 2020)	no assertion criteria provided
Select item 98957897.	NM_033305.3(VPS13A):c.2089A>G (p.Asn697Asp) GRCh37: Chr9:79865064 GRCh38: Chr9:77250148	VPS13A	N697D	Chorea-acanthocytosis	Uncertain significance (Aug 19, 2021)	criteria provided, single submitter
Select item 98957798.	NM_033305.3(VPS13A):c.1783G>T (p.Ala595Ser) GRCh37: Chr9:79853105 GRCh38: Chr9:77238189	VPS13A	A595S	Chorea-acanthocytosis	Uncertain significance (Oct 14, 2020)	no assertion criteria provided
Select item 98957699.	NM_033305.3(VPS13A):c.116A>G (p.Lys39Arg) GRCh37: Chr9:79814876 GRCh38: Chr9:77199960	VPS13A	K39R	Chorea-acanthocytosis	Uncertain significance (Aug 13, 2020)	no assertion criteria provided
Select item 976566100.	NM_033305.3(VPS13A):c.2136A>C (p.Gln712His) GRCh37: Chr9:79865111 GRCh38: Chr9:77250195	VPS13A	Q712H	not provided, Chorea-acanthocytosis	Uncertain significance (Apr 10, 2023)	criteria provided, multiple submitters, no conflicts

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