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Items: 1 to 100 of 1050

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr13:23910909
GRCh38:
Chr13:23336770
SACSP2222L, P2369LCharlevoix-Saguenay spastic ataxiaPathogenic
(Sep 5, 2023)
criteria provided, single submitter
2.
GRCh37:
Chr13:23908704
GRCh38:
Chr13:23334565
SACST2957fs, T3104fsCharlevoix-Saguenay spastic ataxiaPathogenic
(Jul 20, 2023)
criteria provided, single submitter
3.
GRCh37:
Chr13:23910381
GRCh38:
Chr13:23336242
SACSM2398fs, M2545fsCharlevoix-Saguenay spastic ataxiaLikely pathogeniccriteria provided, single submitter
4.
GRCh37:
Chr13:23906028-23906029
GRCh38:
Chr13:23331889-23331890
SACSCharlevoix-Saguenay spastic ataxiaUncertain significance
(Jul 17, 2023)
criteria provided, single submitter
5.
GRCh37:
Chr13:23915628
GRCh38:
Chr13:23341489
SACSL649fs, L796fsCharlevoix-Saguenay spastic ataxiaPathogenic
(Jul 17, 2023)
criteria provided, single submitter
6.
GRCh37:
Chr13:23927923
GRCh38:
Chr13:23353784
SACSCharlevoix-Saguenay spastic ataxiaLikely pathogeniccriteria provided, single submitter
7.
GRCh37:
Chr13:23913005-23913007
GRCh38:
Chr13:23338866-23338868
SACSY1523fs, Y1670fsCharlevoix-Saguenay spastic ataxiaLikely pathogenic
(Mar 27, 2023)
criteria provided, single submitter
8.
GRCh37:
Chr13:23909222-23909225
GRCh38:
Chr13:23335083-23335086
SACSK2783fs, K2930fsCharlevoix-Saguenay spastic ataxiaLikely pathogenic
(Mar 2, 2023)
criteria provided, single submitter
9.
GRCh37:
Chr13:23912370
GRCh38:
Chr13:23338231
SACSL1735W, L1882WCharlevoix-Saguenay spastic ataxiaUncertain significance
(Feb 23, 2023)
criteria provided, single submitter
10.
GRCh37:
Chr13:23929499
GRCh38:
Chr13:23355360
SACSP271A, P418ACharlevoix-Saguenay spastic ataxiaUncertain significance
(Feb 23, 2023)
criteria provided, single submitter
11.
GRCh37:
Chr13:23908795-23908796
GRCh38:
Chr13:23334656-23334657
SACSCharlevoix-Saguenay spastic ataxiaLikely pathogenic
(Feb 23, 2023)
criteria provided, single submitter
12.
GRCh37:
Chr13:23909368
GRCh38:
Chr13:23335229
SACSV2736M, V2883MCharlevoix-Saguenay spastic ataxiaUncertain significance
(May 10, 2021)
criteria provided, single submitter
13.
GRCh37:
Chr13:23908907
GRCh38:
Chr13:23334768
SACSQ2889H, Q3036HCharlevoix-Saguenay spastic ataxiaUncertain significance
(Aug 10, 2019)
criteria provided, single submitter
14.
GRCh37:
Chr13:23906334-23906336
GRCh38:
Chr13:23332195-23332197
SACSK3747R, K3894RCharlevoix-Saguenay spastic ataxiaUncertain significance
(Dec 15, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr13:23910793
GRCh38:
Chr13:23336654
SACSD2261N, D2408NCharlevoix-Saguenay spastic ataxiaUncertain significance
(May 10, 2021)
criteria provided, single submitter
16.
GRCh37:
Chr13:23928761
GRCh38:
Chr13:23354622
SACSL517F, L664FCharlevoix-Saguenay spastic ataxiaUncertain significance
(May 10, 2021)
criteria provided, single submitter
17.
GRCh37:
Chr13:23913909
GRCh38:
Chr13:23339770
SACSN1222S, N1369SCharlevoix-Saguenay spastic ataxiaUncertain significance
(Apr 10, 2019)
criteria provided, single submitter
18.
GRCh37:
Chr13:23906189
GRCh38:
Chr13:23332050
SACSM3795I, M3942ICharlevoix-Saguenay spastic ataxiaUncertain significance
(May 11, 2019)
criteria provided, single submitter
19.
GRCh37:
Chr13:23913284-23913285
GRCh38:
Chr13:23339145-23339146
SACSM1431fs, M1578fsCharlevoix-Saguenay spastic ataxiaLikely pathogenic
(Aug 17, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr13:23906923
GRCh38:
Chr13:23332784
SACSQ3551*, Q3698*Charlevoix-Saguenay spastic ataxiaLikely pathogenic
(Jan 25, 2023)
criteria provided, single submitter
21.
GRCh37:
Chr13:23904665
GRCh38:
Chr13:23330526
SACSW4450*, W4303*Charlevoix-Saguenay spastic ataxiaUncertain significance
(Jan 25, 2023)
criteria provided, single submitter
22.
GRCh37:
Chr13:23932608
GRCh38:
Chr13:23358469
SACSY157C, Y10CInborn genetic diseases, Charlevoix-Saguenay spastic ataxiaUncertain significance
(Nov 11, 2021)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr13:23907889
GRCh38:
Chr13:23333750
SACSA3229T, A3376TSpastic paraplegia, Charlevoix-Saguenay spastic ataxiaUncertain significance
(Nov 30, 2021)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr13:23913997
GRCh38:
Chr13:23339858
SACSY1340H, Y1193HSpastic paraplegia, Charlevoix-Saguenay spastic ataxiaConflicting interpretations of pathogenicity
(May 24, 2022)
criteria provided, conflicting interpretations
25.
GRCh37:
Chr13:23907115
GRCh38:
Chr13:23332976
SACSQ3634*, Q3487*Charlevoix-Saguenay spastic ataxia, Spastic paraplegiaPathogenic/Likely pathogenic
(Jan 11, 2022)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr13:23906050
GRCh38:
Chr13:23331911
SACSV3842F, V3989FSpastic paraplegia, Charlevoix-Saguenay spastic ataxiaUncertain significance
(Oct 13, 2022)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr13:23912098
GRCh38:
Chr13:23337959
SACSK1826E, K1973ECharlevoix-Saguenay spastic ataxianot providedno assertion provided
28.
GRCh37:
Chr13:23915127
GRCh38:
Chr13:23340988
SACSS816C, S963CCharlevoix-Saguenay spastic ataxiaUncertain significance
(Aug 28, 2019)
criteria provided, single submitter
29.
GRCh37:
Chr13:23905338-23905342
GRCh38:
Chr13:23331199-23331203
SACSY4078fs, Y4225fsInborn genetic diseases, Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
Pathogenic
(Aug 23, 2022)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr13:23928782-23928783
GRCh38:
Chr13:23354643-23354644
SACSD510fs, D657fsCharlevoix-Saguenay spastic ataxiaLikely pathogenic
(Jan 2, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr13:23930008-23930009
GRCh38:
Chr13:23355869-23355870
SACSA101fs, A248fsCharlevoix-Saguenay spastic ataxiaLikely pathogenic
(Dec 31, 2021)
criteria provided, single submitter
32.
GRCh37:
Chr13:23928822
GRCh38:
Chr13:23354683
SACSC496*, C643*Charlevoix-Saguenay spastic ataxiaLikely pathogenic
(Feb 25, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr13:23932549
GRCh38:
Chr13:23358410
SACSR177*, R30*Charlevoix-Saguenay spastic ataxiaLikely pathogenic
(Dec 28, 2021)
criteria provided, single submitter
34.
GRCh37:
Chr13:23929624-23929625
GRCh38:
Chr13:23355485-23355486
SACSN229fs, N376fsCharlevoix-Saguenay spastic ataxiaLikely pathogenic
(Dec 27, 2021)
criteria provided, single submitter
35.
GRCh37:
Chr13:23932523-23932524
GRCh38:
Chr13:23358384-23358385
SACSL185fs, L38fsCharlevoix-Saguenay spastic ataxiaLikely pathogenic
(Feb 2, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr13:23932514-23932515
GRCh38:
Chr13:23358375-23358376
SACSG188fs, G41fsCharlevoix-Saguenay spastic ataxiaLikely pathogenic
(Dec 16, 2021)
criteria provided, single submitter
37.
GRCh37:
Chr13:23929181-23929182
GRCh38:
Chr13:23355042-23355043
SACSF377fs, F524fsCharlevoix-Saguenay spastic ataxiaLikely pathogenic
(May 30, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr13:23942543
GRCh38:
Chr13:23368404
SACSK115*Charlevoix-Saguenay spastic ataxiaLikely pathogenic
(Dec 8, 2021)
criteria provided, single submitter
39.
GRCh37:
Chr13:23930111-23930129
GRCh38:
Chr13:23355972-23355990
SACSS208fs, S61fsCharlevoix-Saguenay spastic ataxiaLikely pathogenic
(Apr 10, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr13:23929856-23929859
GRCh38:
Chr13:23355717-23355720
SACSS151fs, S298fsCharlevoix-Saguenay spastic ataxiaLikely pathogenic
(Mar 30, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr13:23929296
GRCh38:
Chr13:23355157
SACSW338*, W485*Charlevoix-Saguenay spastic ataxiaLikely pathogenic
(Mar 20, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr13:23949402-23949404
GRCh38:
Chr13:23375263-23375265
SACSV9fsCharlevoix-Saguenay spastic ataxiaLikely pathogenic
(Mar 20, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr13:23928911-23928912
GRCh38:
Chr13:23354772-23354773
SACSL467fs, L614fsCharlevoix-Saguenay spastic ataxiaLikely pathogenic
(Mar 15, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr13:23932581
GRCh38:
Chr13:23358442
SACSP166fs, P19fsCharlevoix-Saguenay spastic ataxiaLikely pathogenic
(Mar 14, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr13:23929645-23929646
GRCh38:
Chr13:23355506-23355507
SACST222fs, T369fsCharlevoix-Saguenay spastic ataxiaLikely pathogenic
(Mar 3, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr13:23929752-23929753
GRCh38:
Chr13:23355613-23355614
SACSV186fs, V333fsCharlevoix-Saguenay spastic ataxiaLikely pathogenic
(Mar 2, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr13:23945283-23945284
GRCh38:
Chr13:23371144-23371145
SACSG65fsCharlevoix-Saguenay spastic ataxiaLikely pathogenic
(Mar 2, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr13:23929573
GRCh38:
Chr13:23355434
SACSL246*, L393*Charlevoix-Saguenay spastic ataxiaLikely pathogenic
(Feb 28, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr13:23932536
GRCh38:
Chr13:23358397
SACSK181fs, K34fsCharlevoix-Saguenay spastic ataxiaLikely pathogenic
(Feb 25, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr13:23932499
GRCh38:
Chr13:23358360
SACSF194fs, F47fsCharlevoix-Saguenay spastic ataxiaLikely pathogenic
(Nov 15, 2021)
criteria provided, single submitter
51.
GRCh37:
Chr13:23929867
GRCh38:
Chr13:23355728
SACSL148*, L295*Charlevoix-Saguenay spastic ataxiaLikely pathogenic
(Feb 17, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr13:23929314
GRCh38:
Chr13:23355175
SACSW332*, W479*Charlevoix-Saguenay spastic ataxiaLikely pathogenic
(Feb 12, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr13:23929034-23929035
GRCh38:
Chr13:23354895-23354896
SACSE426fs, E573fsCharlevoix-Saguenay spastic ataxiaLikely pathogenic
(Feb 4, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr13:23928944
GRCh38:
Chr13:23354805
SACSK456*, K603*Charlevoix-Saguenay spastic ataxiaLikely pathogenic
(Apr 4, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr13:23913081
GRCh38:
Chr13:23338942
SACS, SACS-AS1R1498P, R1645PCharlevoix-Saguenay spastic ataxiaLikely pathogenic
(Apr 12, 2022)
no assertion criteria provided
56.
GRCh37:
Chr13:23929924
GRCh38:
Chr13:23355785
SACSR129H, R276HCharlevoix-Saguenay spastic ataxiaUncertain significance
(May 5, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr13:23906754
GRCh38:
Chr13:23332615
SACSN3607fs, N3754fsCharlevoix-Saguenay spastic ataxiaLikely pathogenic
(May 5, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr13:23913292
GRCh38:
Chr13:23339153
SACSR1428W, R1575WCharlevoix-Saguenay spastic ataxiaLikely pathogenic
(Apr 13, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr13:23929115
GRCh38:
Chr13:23354976
SACSQ399*, Q546*Charlevoix-Saguenay spastic ataxiaLikely pathogenic
(Feb 26, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr13:23907568-23907571
GRCh38:
Chr13:23333429-23333432
SACSL3335fs, L3482fsCharlevoix-Saguenay spastic ataxiaPathogeniccriteria provided, single submitter
61.
GRCh37:
Chr13:23910005-23910006
GRCh38:
Chr13:23335866-23335867
SACSL2523fs, L2670fsCharlevoix-Saguenay spastic ataxiaLikely pathogenic
(Sep 1, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr13:23912719
GRCh38:
Chr13:23338580
SACSE1619*, E1766*Charlevoix-Saguenay spastic ataxiaLikely pathogenic
(Aug 18, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr13:23913058
GRCh38:
Chr13:23338919
SACSE1506*, E1653*Charlevoix-Saguenay spastic ataxiaLikely pathogenic
(Aug 16, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr13:23932558
GRCh38:
Chr13:23358419
SACSE174*, E27*Charlevoix-Saguenay spastic ataxiaLikely pathogenic
(May 19, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr13:23915289
GRCh38:
Chr13:23341150
SACSS762I, S909Inot provided, Charlevoix-Saguenay spastic ataxiaUncertain significance
(Jul 20, 2021)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr13:23907002-23907007
GRCh38:
Chr13:23332863-23332868
SACSCharlevoix-Saguenay spastic ataxiaUncertain significance
(May 22, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr13:23913331
GRCh38:
Chr13:23339192
SACSS1415fs, S1562fsCharlevoix-Saguenay spastic ataxiaLikely pathogenic
(May 22, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr13:23912977-23912978
GRCh38:
Chr13:23338838-23338839
SACSC1532fs, C1679fsCharlevoix-Saguenay spastic ataxiaLikely pathogenic
(May 22, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr13:23907911-23907912
GRCh38:
Chr13:23333772-23333773
SACSM3221fs, M3368fsCharlevoix-Saguenay spastic ataxiaLikely pathogenic
(Apr 15, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr13:23910436-23910439
GRCh38:
Chr13:23336297-23336300
SACSE2379fs, E2526fsCharlevoix-Saguenay spastic ataxiaLikely pathogenic
(Aug 1, 2021)
criteria provided, single submitter
71.
GRCh37:
Chr13:23907114
GRCh38:
Chr13:23332975
SACSQ3487P, Q3634PCharlevoix-Saguenay spastic ataxiaUncertain significance
(Mar 12, 2021)
criteria provided, single submitter
72.
GRCh37:
Chr13:23908660-23908661
GRCh38:
Chr13:23334521-23334522
SACSCharlevoix-Saguenay spastic ataxia, Spastic paraplegiaConflicting interpretations of pathogenicity
(Apr 12, 2022)
criteria provided, conflicting interpretations
73.
GRCh37:
Chr13:23914531
GRCh38:
Chr13:23340392
SACSE1015*, E1162*Spastic paraplegia, Charlevoix-Saguenay spastic ataxiaPathogenic
(Jun 28, 2022)
criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr13:23912188-23912191
GRCh38:
Chr13:23338049-23338052
SACSY1795fs, Y1942fsCharlevoix-Saguenay spastic ataxia, Spastic paraplegiaPathogenic
(May 31, 2022)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr13:23912566-23912575
GRCh38:
Chr13:23338427-23338436
SACSE1814fs, E1667fsCharlevoix-Saguenay spastic ataxia, Spastic paraplegiaPathogenic
(Jul 29, 2022)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr13:23932607-23932608
GRCh38:
Chr13:23358468-23358469
SACSY10fs, Y157fsCharlevoix-Saguenay spastic ataxia, Spastic paraplegiaPathogenic
(Jun 24, 2022)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr13:23915451
GRCh38:
Chr13:23341312
SACSL708S, L855SHereditary spastic paraplegia, Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
Conflicting interpretations of pathogenicity
(Aug 25, 2022)
criteria provided, conflicting interpretations
78.
GRCh37:
Chr13:23915790
GRCh38:
Chr13:23341651
SACSR595Q, R742QHereditary spastic paraplegia, Charlevoix-Saguenay spastic ataxiaUncertain significance
(Jan 17, 2022)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr13:23914179
GRCh38:
Chr13:23340040
SACSW1132*, W1279*Charlevoix-Saguenay spastic ataxia, Spastic paraplegiaPathogenic/Likely pathogenic
(Feb 28, 2022)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr13:23932603
GRCh38:
Chr13:23358464
SACSY12D, Y159DCharlevoix-Saguenay spastic ataxiaLikely pathogenic
(Jan 1, 2019)
criteria provided, single submitter
81.
GRCh37:
Chr13:23913747
GRCh38:
Chr13:23339608
SACSH1276R, H1423RCharlevoix-Saguenay spastic ataxiaUncertain significancecriteria provided, single submitter
82.
GRCh37:
Chr13:23910432
GRCh38:
Chr13:23336293
SACSL2381W, L2528WCharlevoix-Saguenay spastic ataxiaUncertain significancecriteria provided, single submitter
83.
GRCh37:
Chr13:23914360
GRCh38:
Chr13:23340221
SACSP1072S, P1219SCharlevoix-Saguenay spastic ataxiaLikely benign
(Jan 27, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr13:23908136
GRCh38:
Chr13:23333997
SACSV3147fs, V3294fsCharlevoix-Saguenay spastic ataxiaLikely pathogenic
(Jan 3, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr13:23911177-23911178
GRCh38:
Chr13:23337038-23337039
SACSE2133fs, E2280fsCharlevoix-Saguenay spastic ataxiaPathogenic
(Dec 29, 2021)
criteria provided, single submitter
86.
GRCh37:
Chr13:23908224
GRCh38:
Chr13:23334085
SACST3117R, T3264RCharlevoix-Saguenay spastic ataxia, not provided, Spastic paraplegia
Conflicting interpretations of pathogenicity
(Oct 5, 2022)
criteria provided, conflicting interpretations
87.
GRCh37:
Chr13:23912323
GRCh38:
Chr13:23338184
SACSE1751*, E1898*Charlevoix-Saguenay spastic ataxiaLikely pathogenic
(Sep 9, 2021)
criteria provided, single submitter
88.
GRCh37:
Chr13:23911221-23911248
GRCh38:
Chr13:23337082-23337109
SACSL2109fs, L2256fsCharlevoix-Saguenay spastic ataxiaLikely pathogenic
(Aug 26, 2021)
criteria provided, single submitter
89.
GRCh37:
Chr13:23910905
GRCh38:
Chr13:23336766
SACSY2223*, Y2370*Charlevoix-Saguenay spastic ataxiaPathogenic
(Nov 20, 2019)
criteria provided, single submitter
90.
GRCh37:
Chr13:23908362
GRCh38:
Chr13:23334223
SACSL3071*, L3218*Charlevoix-Saguenay spastic ataxiaLikely pathogenic
(Oct 25, 2021)
criteria provided, single submitter
91.
GRCh37:
Chr13:23914855-23914856
GRCh38:
Chr13:23340716-23340717
SACSCharlevoix-Saguenay spastic ataxiaLikely pathogenic
(Oct 2, 2021)
criteria provided, single submitter
92.
GRCh37:
Chr13:23929155
GRCh38:
Chr13:23355016
SACSY385*, Y532*Charlevoix-Saguenay spastic ataxiaLikely pathogenic
(Oct 2, 2021)
criteria provided, single submitter
93.
GRCh37:
Chr13:23908210
GRCh38:
Chr13:23334071
SACSD3122N, D3269NCharlevoix-Saguenay spastic ataxia, not provided, Spastic paraplegia
Conflicting interpretations of pathogenicity
(Sep 10, 2022)
criteria provided, conflicting interpretations
94.
GRCh37:
Chr13:23928937
GRCh38:
Chr13:23354798
SACSP458L, P605LCharlevoix-Saguenay spastic ataxiaLikely pathogenic
(Aug 10, 2021)
criteria provided, single submitter
95.
GRCh37:
Chr13:23910099
GRCh38:
Chr13:23335960
SACSI2492T, I2639Tnot providedUncertain significance
(May 26, 2021)
criteria provided, single submitter
96.
GRCh37:
Chr13:23912385
GRCh38:
Chr13:23338246
SACSR1730Q, R1877Qnot provided, Hereditary spastic paraplegia, Spastic paraplegia
Conflicting interpretations of pathogenicity
(Oct 28, 2022)
criteria provided, conflicting interpretations
97.
GRCh37:
Chr13:23913169
GRCh38:
Chr13:23339030
SACSN1469H, N1616Hnot providedUncertain significance
(Feb 8, 2021)
criteria provided, single submitter
98.
GRCh37:
Chr13:23906129
GRCh38:
Chr13:23331990
SACSI3815M, I3962Mnot providedUncertain significance
(Sep 21, 2020)
criteria provided, single submitter
99.
GRCh37:
Chr13:23906808
GRCh38:
Chr13:23332669
SACSM3589T, M3736Tnot providedUncertain significance
(Jan 15, 2021)
criteria provided, single submitter
100.
GRCh37:
Chr13:23907759
GRCh38:
Chr13:23333620
SACSR3272H, R3419Hnot provided, Spastic paraplegiaConflicting interpretations of pathogenicity
(Oct 27, 2022)
criteria provided, conflicting interpretations
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