If a variant has more than one submission, it may be counted in more than one significance column. If this is the
case, the total number of variants will be less than the sum of the other cells.
Gene and significance breakdown #
Total genes and gene combinations: 73
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
SACS
|
353
|
18
|
236
|
2351
|
225
|
3183
|
ZFYVE26
|
187
|
40
|
506
|
1380
|
76
|
2188
|
KIF5A
|
24
|
10
|
391
|
531
|
43
|
999
|
L1CAM
|
50
|
17
|
106
|
504
|
266
|
943
|
CYP7B1
|
55
|
7
|
149
|
191
|
15
|
416
|
AP4E1
|
5
|
10
|
182
|
144
|
25
|
366
|
KDM5C
|
17
|
8
|
84
|
154
|
77
|
340
|
B4GALNT1
|
12
|
4
|
102
|
89
|
19
|
226
|
GBA2
|
16
|
4
|
96
|
90
|
15
|
221
|
GJC2
|
10
|
2
|
127
|
60
|
9
|
208
|
CYP2U1
|
14
|
5
|
98
|
78
|
8
|
202
|
HSPD1
|
0 |
0 |
86
|
85
|
18
|
189
|
SLC16A2
|
22
|
2
|
71
|
55
|
30
|
180
|
FA2H
|
18
|
3
|
60
|
72
|
17
|
170
|
RTN2
|
5
|
1
|
72
|
62
|
22
|
162
|
SLC33A1
|
2
|
0 |
63
|
52
|
9
|
126
|
ARSI
|
0 |
0 |
70
|
25
|
16
|
111
|
ERLIN2
|
7
|
4
|
49
|
38
|
12
|
110
|
ZFYVE27
|
0 |
0 |
40
|
23
|
19
|
82
|
LOC130009366, SACS
|
6
|
2
|
2
|
63
|
4
|
77
|
TAPBPL, VAMP1
|
6
|
1
|
31
|
35
|
3
|
76
|
AP4S1
|
11
|
13
|
22
|
27
|
5
|
73
|
FA2H, LOC130059394
|
10
|
0 |
19
|
12
|
2
|
43
|
AP4B1
|
0 |
30
|
0 |
0 |
0 |
30
|
AP4M1
|
1
|
24
|
0 |
0 |
0 |
25
|
HPDL
|
0 |
25
|
0 |
0 |
0 |
25
|
SPAST
|
3
|
1
|
14
|
0 |
0 |
18
|
CYP7B1, LOC130000507
|
0 |
0 |
7
|
9
|
0 |
16
|
KIF1A
|
3
|
1
|
5
|
0 |
0 |
9
|
CYP2U1, LOC129992929
|
1
|
0 |
5
|
1
|
1
|
8
|
ABHD16A
|
0 |
0 |
6
|
0 |
0 |
6
|
KDM5C, LOC130068308
|
0 |
0 |
3
|
1
|
2
|
6
|
FA2H, LOC130059393
|
1
|
0 |
1
|
3
|
0 |
5
|
REEP1
|
1
|
1
|
3
|
0 |
0 |
5
|
BICD2
|
1
|
0 |
2
|
0 |
0 |
3
|
ATL1
|
1
|
1
|
0 |
0 |
0 |
2
|
CPT1C
|
0 |
0 |
2
|
0 |
0 |
2
|
HPDL, LOC129930439
|
0 |
2
|
0 |
0 |
0 |
2
|
LINC00362, LOC130009362, LOC130009363, LOC130009364, LOC130009365, LOC130009366, LOC130009367, LOC130009368, LOC130009369, LOC132090179, SACS, SGCG
|
1
|
0 |
1
|
0 |
0 |
2
|
RNF170
|
2
|
0 |
0 |
0 |
0 |
2
|
SPG11
|
1
|
1
|
0 |
0 |
0 |
2
|
WASHC5
|
0 |
0 |
1
|
0 |
1
|
2
|
ABCD1, ARHGAP4, ATP2B3, ATP6AP1, AVPR2, BCAP31, BGN, BRCC3, CCNQ, CLIC2, CMC4, CTAG1A, CTAG1B, CTAG2, DKC1, DNASE1L1, DUSP9, EMD, F8, F8A1, F8A2, F8A3, FAM3A, FAM50A, FLNA, FUNDC2, G6PD, GAB3, GDI1, H2AB1, H2AB2, H2AB3, HAUS7, HCFC1, IDH3G, IKBKG, IRAK1, L1CAM, LAGE3, MAGEA1, MECP2, MPP1, MTCP1, NAA10, NSDHL, OPN1LW, OPN1MW, OPN1MW2, PDZD4, PLXNA3, PLXNB3, PNCK, PNMA3, PNMA5, PNMA6A, PNMA6E, RAB39B, RENBP, RPL10, SLC10A3, SLC6A8, SMIM9, SRPK3, SSR4, TAFAZZIN, TEX28, TKTL1, TMEM187, TMLHE, TREX2, UBL4A, VBP1, ZFP92, ZNF185, ZNF275
|
1
|
0 |
0 |
0 |
0 |
1
|
ABCD1, ARHGAP4, AVPR2, BCAP31, HCFC1, IDH3G, IRAK1, L1CAM, NAA10, PDZD4, PLXNB3, RENBP, SLC6A8, SRPK3, SSR4, TMEM187
|
0 |
0 |
1
|
0 |
0 |
1
|
ADAM9, ADGRA2, ADRB3, ASH2L, BAG4, BRF2, DDHD2, EIF4EBP1, ERLIN2, FGFR1, GOT1L1, HTRA4, LETM2, LINC03042, LSM1, NSD3, PLEKHA2, PLPBP, PLPP5, RAB11FIP1, STAR, TACC1, TM2D2
|
0 |
0 |
1
|
0 |
0 |
1
|
AP4E1, ARPP19, ATOSA, BCL2L10, CYP19A1, DMXL2, GLDN, GNB5, LEO1, LYSMD2, MAPK6, MYO5A, MYO5C, ONECUT1, SCG3, SPPL2A, TMOD2, TMOD3, TNFAIP8L3, WDR72
|
1
|
0 |
0 |
0 |
0 |
1
|
AP5Z1
|
0 |
0 |
1
|
0 |
0 |
1
|
ARHGEF25, B4GALNT1, DTX3, KIF5A, PIP4K2C
|
0 |
0 |
1
|
0 |
0 |
1
|
BCAR1, CFDP1, CTRB1, CTRB2, FA2H, GLG1, LDHD, MLKL, RFWD3, WDR59, ZFP1, ZNRF1
|
0 |
0 |
1
|
0 |
0 |
1
|
BIRC6, DPY30, NLRC4, SLC30A6, SPAST, TTC27, YIPF4
|
0 |
0 |
1
|
0 |
0 |
1
|
DCTN2, DDIT3, KIF5A, MARS1, MBD6, MIR616
|
0 |
0 |
1
|
0 |
0 |
1
|
EGR2
|
0 |
0 |
1
|
0 |
0 |
1
|
GJC2, IBA57
|
0 |
0 |
1
|
0 |
0 |
1
|
HPDL, LOC129930440
|
0 |
1
|
0 |
0 |
0 |
1
|
HSD17B10, IQSEC2, KDM5C, RIBC1, SMC1A
|
0 |
0 |
1
|
0 |
0 |
1
|
IRF2BPL
|
0 |
1
|
0 |
0 |
0 |
1
|
KDM5C, MIR6894
|
0 |
0 |
0 |
0 |
1
|
1
|
KDM5C, MIR6895
|
0 |
0 |
0 |
1
|
0 |
1
|
LINC00362, LOC130009362, LOC130009363, LOC130009364, LOC132090179, SACS, SGCG
|
1
|
0 |
0 |
0 |
0 |
1
|
LOC130007245, TAPBPL, VAMP1
|
1
|
0 |
0 |
0 |
0 |
1
|
LOC130056709, NIPA1
|
0 |
0 |
1
|
0 |
0 |
1
|
LOC130068443, SLC16A2
|
0 |
0 |
1
|
0 |
0 |
1
|
MIPEP, PCOTH, SACS, SGCG, TNFRSF19
|
0 |
0 |
1
|
0 |
0 |
1
|
MTM1
|
1
|
0 |
0 |
0 |
0 |
1
|
NIPA1
|
1
|
0 |
0 |
0 |
0 |
1
|
NLRC4, SLC30A6, SPAST
|
0 |
1
|
0 |
0 |
0 |
1
|
RDH11, RDH12, ZFYVE26
|
0 |
0 |
1
|
0 |
0 |
1
|
RDH12, ZFYVE26
|
0 |
0 |
1
|
0 |
0 |
1
|
SETX
|
0 |
0 |
1
|
0 |
0 |
1
|
SLC19A3
|
0 |
0 |
1
|
0 |
0 |
1
|
SPG7
|
0 |
0 |
1
|
0 |
0 |
1
|
VAMP1
|
0 |
0 |
1
|
0 |
0 |
1
|
VCP
|
1
|
0 |
0 |
0 |
0 |
1
|
Submitter and significance breakdown #
Submitter |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
Invitae
|
836
|
129
|
2681
|
6136
|
940
|
10722
|
Yale Center for Mendelian Genomics, Yale University
|
2
|
101
|
0 |
0 |
0 |
103
|
Paris Brain Institute, Inserm - ICM
|
6
|
0 |
43
|
0 |
0 |
49
|
NIHR Bioresource Rare Diseases, University of Cambridge
|
4
|
4
|
0 |
0 |
0 |
8
|
Institute of Human Genetics, University of Wuerzburg
|
1
|
1
|
5
|
0 |
0 |
7
|
Care4Rare-SOLVE, CHEO
|
0 |
0 |
6
|
0 |
0 |
6
|
Baylor Genetics
|
0 |
1
|
1
|
0 |
0 |
2
|
Centre for Mendelian Genomics, University Medical Centre Ljubljana
|
2
|
0 |
0 |
0 |
0 |
2
|
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre
|
0 |
1
|
0 |
0 |
0 |
1
|
Blueprint Genetics
|
1
|
0 |
0 |
0 |
0 |
1
|
Dept. of Medical Genetics, Telemark Hospital Trust, Telemark Hospital Trust
|
0 |
1
|
0 |
0 |
0 |
1
|
Laboratoire de Genetique Moleculaire, Centre Hospitalier Universitaire de Bordeaux
|
0 |
0 |
1
|
0 |
0 |
1
|
Institute of Bioinformatics
|
1
|
0 |
0 |
0 |
0 |
1
|
Department of Hematologic Diagnostics and Genetics, Jagiellonian University Hospital in Krakow
|
0 |
1
|
0 |
0 |
0 |
1
|
Human Genetics Bochum, Ruhr University Bochum
|
0 |
1
|
0 |
0 |
0 |
1
|
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