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+ Genes 11

+ Genes associated with diseases 10

Genes at Omim

BRAT1, CACNA1A, GOSR2, ITPR1, KCNC3, KIF1A, SACS, SPTBN2, TSEN2, TSEN54,
BRAT1 Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, 618056 (3)
Rigidity and multifocal seizure syndrome, lethal neonatal, 614498 (3)
CACNA1A Epileptic encephalopathy, early infantile, 42, 617106 (3)
Episodic ataxia, type 2, 108500 (3)
Migraine, familial hemiplegic, 1, 141500 (3)
Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3)
Spinocerebellar ataxia 6, 183086 (3)
GOSR2 Epilepsy, progressive myoclonic 6, 614018 (3)
ITPR1 Gillespie syndrome, 206700 (3)
Spinocerebellar ataxia 15, 606658 (3)
Spinocerebellar ataxia 29, congenital nonprogressive, 117360 (3)
KCNC3 Spinocerebellar ataxia 13, 605259 (3)
KIF1A Mental retardation, autosomal dominant 9, 614255 (3)
Neuropathy, hereditary sensory, type IIC, 614213 (3)
Spastic paraplegia 30, autosomal recessive, 610357 (3)
SACS Spastic ataxia, Charlevoix-Saguenay type, 270550 (3)
SPTBN2 Spinocerebellar ataxia 5, 600224 (3)
Spinocerebellar ataxia, autosomal recessive 14, 615386 (3)
TSEN2 Pontocerebellar hypoplasia type 2B, 612389 (3)
TSEN54 Pontocerebellar hypoplasia type 2A, 277470 (3)
Pontocerebellar hypoplasia type 4, 225753 (3)
?Pontocerebellar hypoplasia type 5, 610204 (3)

Genes at Clinical Genomics Database

BRAT1, CACNA1A, GOSR2, ITPR1, KCNC3, KIF1A, SACS, SPTBN2, TSEN2, TSEN54,
BRAT1 Rigidity and multifocal seizure syndrome, lethal neonatal
CACNA1A Episodic ataxia, type 2
Migraine, familial hemiplegic 1
GOSR2 Epilepsy, progessive myoclonic 6
ITPR1 Spinocerebellar ataxia 15
Spinocerebellar ataxia 29
KCNC3 Spinocerebellar ataxia 13
KIF1A Mental retardation, autosomal dominant 9
Neuropathy, hereditary sensory, type IIC
Spastic paraplegia 30, autosomal recessive
SACS Spastic ataxia, Charlevoix-Saguenay type
SPTBN2 Spinocerebellar ataxia 5, autosomal dominant
Spinocerebellar ataxia 14, autosomal recessive
TSEN2 Pontocerebellar hypoplasia type 2B
TSEN54 Pontocerebellar hypoplasia, type 2A
Pontocerebellar hypoplasia type 4
Pontocerebellar hypoplasia type 5

Genes at HGMD

Summary

Number of Variants: 29
Number of Genes: 11

Export to: CSV
  • Page 1 of 1

BRAT1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 2-ac-cap17_s1 genome 7 rs142129866
dbSNP Clinvar 		2579181 6957.14 C T PASS 0/1 566 NON_SYNONYMOUS_CODING MODERATE None 0.00046 1.00 0.81 None None None None None None None
View 2-ac-cap17_s1 genome 7 rs61740320
dbSNP Clinvar 		2578857 6906.49 C T PASS 0/1 615 NON_SYNONYMOUS_CODING MODERATE None 0.00539 0.00539 0.01300 0.15 0.92 None None None None None None None

CACNA1A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 2-ac-cap17_s1 genome 19 rs752539801
dbSNP Clinvar 		13318672 19162.04 CC... C,... PASS 1/2 342 CODON_DELETION MODERATE None 0.42399 None None None None None None None
View 2-ac-cap17_s1 genome 19 . 13318673 0.0 C . LowGQX . 109 CODON_DELETION MODERATE None 0.42399 None None None None None None None
View 2-ac-cap17_s1 genome 19 . 13318675 0.0 G . LowGQX . 108 CODON_DELETION MODERATE None 0.42399 None None None None None None None
View 2-ac-cap17_s1 genome 19 . 13318674 0.0 T . LowGQX . 108 CODON_DELETION MODERATE None 0.42399 None None None None None None None
View 2-ac-cap17_s1 genome 19 . 13318679 0.0 C . LowGQX . 337 CODON_DELETION MODERATE None 0.42399 None None None None None None None
View 2-ac-cap17_s1 genome 19 . 13318678 0.0 G . LowGQX . 107 CODON_DELETION MODERATE None 0.42399 None None None None None None None
View 2-ac-cap17_s1 genome 19 . 13318677 0.0 T . LowGQX . 108 CODON_DELETION MODERATE None 0.42399 None None None None None None None
View 2-ac-cap17_s1 genome 19 . 13318676 0.0 C . LowGQX . 108 CODON_DELETION MODERATE None 0.42399 None None None None None None None
View 2-ac-cap17_s1 genome 19 rs16027
dbSNP Clinvar 		13397560 8702.66 C T PASS 0/1 772 NON_SYNONYMOUS_CODING MODERATE None 0.10044 0.10040 0.07390 0.94 None None None None None None None
View 2-ac-cap17_s1 genome 19 . 13318777 166.68 A G LowQD;SB 0/1 426 NON_SYNONYMOUS_CODING MODERATE None 0.01 None None None None None None None

GOSR2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 2-ac-cap17_s1 genome 17 rs197922
dbSNP Clinvar 		45008570 7176.65 G A PASS 0/1 669 NON_SYNONYMOUS_CODING MODERATE None 0.34605 0.34600 0.32477 1.00 0.00 None None None None None None GOSR2|0.237320017|32.66%

GRID2IP
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 2-ac-cap17_s1 genome 7 rs112305062
dbSNP Clinvar 		6547902 3723.39 G A PASS 0/1 402 NON_SYNONYMOUS_CODING MODERATE None 0.08007 0.08007 0.02 1.00 None None None None None None GRID2IP|0.055491049|61.06%

ITPR1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 2-ac-cap17_s1 genome 3 rs373436949
dbSNP Clinvar 		4735390 7367.79 G A PASS 0/1 675 NON_SYNONYMOUS_CODING MODERATE None 0.00008 0.01 0.99 None None None None None None None

KCNC3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 2-ac-cap17_s1 genome 19 rs375912738
dbSNP Clinvar 		50832152 1505.92 T C PASS 1/1 48 NON_SYNONYMOUS_CODING MODERATE None 0.45 0.00 None None None None None None KCNC3|0.018434583|75%

KIF1A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 2-ac-cap17_s1 genome 2 rs10594016
dbSNP Clinvar 		241696840 14345.2 ATCC A PASS 0/1 680 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None KIF1A|0.102859335|50.62%
View 2-ac-cap17_s1 genome 2 . 241696841 776.33 T . PASS 0 365 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None KIF1A|0.102859335|50.62%
View 2-ac-cap17_s1 genome 2 . 241696842 803.44 C . PASS 0 370 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None KIF1A|0.102859335|50.62%
View 2-ac-cap17_s1 genome 2 . 241696843 598.98 C . PASS 0 365 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None KIF1A|0.102859335|50.62%

SACS
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 2-ac-cap17_s1 genome 13 rs17325713
dbSNP Clinvar 		23928671 9606.73 C T PASS 0/1 816 NON_SYNONYMOUS_CODING MODERATE None 0.00819 0.00819 0.02576 0.00 None None None None None None None
View 2-ac-cap17_s1 genome 13 rs17078605
dbSNP Clinvar 		23907909 8758.1 A G PASS 0/1 710 NON_SYNONYMOUS_CODING MODERATE None 0.25899 0.25900 0.20455 0.18 None None None None None None None

SPTBN2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 2-ac-cap17_s1 genome 11 rs4930388
dbSNP Clinvar 		66472274 18505.28 T C PASS 1/1 653 NON_SYNONYMOUS_CODING MODERATE None 0.98782 0.98780 0.01185 0.47 0.00 None None None None None None None

TSEN2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 2-ac-cap17_s1 genome 3 rs33955793
dbSNP Clinvar 		12544829 9765.76 G A PASS 0/1 773 NON_SYNONYMOUS_CODING MODERATE None 0.05871 0.05871 0.06436 0.74 0.00 None None None None None None TSEN2|0.005330655|85.38%

TSEN54
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 2-ac-cap17_s1 genome 17 rs8064529
dbSNP Clinvar 		73519413 9754.39 C T PASS 0/1 850 NON_SYNONYMOUS_CODING MODERATE None 0.56130 0.56130 0.33931 0.05 0.01 None None None None None None TSEN54|0.050099364|62.63%
View 2-ac-cap17_s1 genome 17 rs7216673
dbSNP Clinvar 		73512653 1179.1 G T PASS 0/1 93 NON_SYNONYMOUS_CODING MODERATE None 0.54373 0.54370 0.28 0.00 None None None None None None TSEN54|0.050099364|62.63%
View 2-ac-cap17_s1 genome 17 rs77247739
dbSNP Clinvar 		73518328 7147.46 A C PASS 0/1 609 NON_SYNONYMOUS_CODING MODERATE None 0.07069 0.07069 0.06962 0.20 0.08 None None None None None None TSEN54|0.050099364|62.63%
View 2-ac-cap17_s1 genome 17 rs9911502
dbSNP Clinvar 		73518203 7796.54 G C PASS 0/1 681 NON_SYNONYMOUS_CODING MODERATE None 0.44469 0.44470 0.45960 0.00 0.80 None None None None None None TSEN54|0.050099364|62.63%
View 2-ac-cap17_s1 genome 17 rs8079373
dbSNP Clinvar 		73512884 3724.79 T G PASS 0/1 346 NON_SYNONYMOUS_CODING MODERATE None 0.16314 0.16310 0.13948 0.04 0.31 None None None None None None TSEN54|0.050099364|62.63%
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