chrom
stringclasses
24 values
pos
int64
45.7k
248M
ref
stringclasses
4 values
alt
stringclasses
4 values
label
stringclasses
2 values
id
stringlengths
1
7
review_status
stringclasses
5 values
consequence
stringclasses
77 values
X
154,966,526
G
A
Pathogenic
10125
criteria_provided,_single_submitter
missense_variant
X
154,966,654
C
G
Pathogenic
10202
no_assertion_criteria_provided
missense_variant
X
154,966,664
C
A
Pathogenic
10142
no_assertion_criteria_provided
missense_variant
X
154,966,677
T
G
Pathogenic
627191
criteria_provided,_single_submitter
missense_variant
X
154,969,355
A
G
Pathogenic
10141
no_assertion_criteria_provided
missense_variant
X
154,969,360
A
G
Pathogenic
10199
no_assertion_criteria_provided
missense_variant
X
154,969,400
T
C
Pathogenic
10197
no_assertion_criteria_provided
missense_variant
X
154,969,405
A
G
Pathogenic
10196
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
X
154,969,417
G
A
Pathogenic
10195
no_assertion_criteria_provided
missense_variant
X
154,969,438
C
A
Pathogenic
10193
no_assertion_criteria_provided
missense_variant
X
154,969,438
C
T
Pathogenic
10192
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
X
154,969,444
T
A
Pathogenic
10191
no_assertion_criteria_provided
missense_variant
X
154,969,459
G
A
Pathogenic
10190
no_assertion_criteria_provided
missense_variant
X
154,969,468
T
C
Pathogenic
10099
no_assertion_criteria_provided
missense_variant
X
154,969,469
C
T
Pathogenic
2428502
criteria_provided,_single_submitter
missense_variant
X
154,969,486
A
C
Pathogenic
10189
no_assertion_criteria_provided
missense_variant
X
154,969,508
C
T
Pathogenic
10187
no_assertion_criteria_provided
missense_variant
X
154,984,708
A
T
Pathogenic
618107
criteria_provided,_single_submitter
missense_variant
X
154,984,714
T
C
Pathogenic
1330606
criteria_provided,_single_submitter
missense_variant
X
154,987,237
C
A
Pathogenic
10180
no_assertion_criteria_provided
missense_variant
X
154,987,242
T
A
Pathogenic
10179
no_assertion_criteria_provided
missense_variant
X
154,992,962
A
G
Pathogenic
618637
criteria_provided,_single_submitter
missense_variant
X
154,992,971
G
A
Pathogenic
10129
no_assertion_criteria_provided
missense_variant
X
154,992,983
T
G
Pathogenic
10178
no_assertion_criteria_provided
missense_variant
X
154,992,996
C
T
Pathogenic
10177
criteria_provided,_single_submitter
missense_variant
X
154,993,046
C
A
Pathogenic
10175
no_assertion_criteria_provided
missense_variant
X
154,993,127
G
A
Pathogenic
10174
no_assertion_criteria_provided
missense_variant
X
154,993,133
T
C
Pathogenic
10173
no_assertion_criteria_provided
missense_variant
X
154,993,139
T
C
Pathogenic
10172
no_assertion_criteria_provided
missense_variant
X
154,996,973
C
G
Pathogenic
10170
no_assertion_criteria_provided
missense_variant
X
154,997,011
A
C
Pathogenic
10169
no_assertion_criteria_provided
missense_variant
X
154,997,033
T
C
Pathogenic
10168
no_assertion_criteria_provided
missense_variant
X
154,997,038
T
G
Pathogenic
10167
criteria_provided,_multiple_submitters,_no_conflicts
missense_variant
X
154,997,050
A
T
Pathogenic
10166
no_assertion_criteria_provided
missense_variant
X
154,997,059
T
C
Pathogenic
812076
criteria_provided,_single_submitter
missense_variant
X
154,997,065
A
G
Pathogenic
993612
criteria_provided,_single_submitter
missense_variant
X
154,997,065
A
T
Pathogenic
10165
no_assertion_criteria_provided
missense_variant
X
154,997,086
C
A
Pathogenic
10164
no_assertion_criteria_provided
missense_variant
X
154,997,095
C
T
Pathogenic
10163
no_assertion_criteria_provided
missense_variant
X
155,022,432
C
A
Pathogenic
10156
criteria_provided,_single_submitter
missense_variant
X
155,022,449
T
C
Pathogenic
10352
no_assertion_criteria_provided
missense_variant
X
155,022,464
T
A
Pathogenic
10154
no_assertion_criteria_provided
missense_variant
X
155,022,476
A
C
Pathogenic
10153
no_assertion_criteria_provided
missense_variant
X
155,260,871
C
T
Pathogenic
218362
criteria_provided,_single_submitter
missense_variant
X
155,260,942
G
T
Pathogenic
156532
criteria_provided,_single_submitter
missense_variant
X
155,264,287
A
G
Pathogenic
489029
criteria_provided,_single_submitter
initiatior_codon_variant,missense_variant
X
155,900,534
T
C
Benign
721652
criteria_provided,_single_submitter
missense_variant,non-coding_transcript_variant
X
156,009,834
G
A
Benign
769193
criteria_provided,_single_submitter
missense_variant,synonymous_variant
X
156,009,937
G
A
Benign
771064
criteria_provided,_single_submitter
3_prime_UTR_variant,missense_variant
Y
2,787,207
G
A
Pathogenic
9752
no_assertion_criteria_provided
missense_variant
Y
2,787,224
T
A
Pathogenic
9756
no_assertion_criteria_provided
missense_variant
Y
2,787,224
T
C
Pathogenic
470196
criteria_provided,_single_submitter
missense_variant
Y
2,787,267
C
T
Pathogenic
9744
no_assertion_criteria_provided
missense_variant
Y
2,787,278
A
G
Pathogenic
9738
no_assertion_criteria_provided
missense_variant
Y
2,787,287
T
A
Pathogenic
9742
no_assertion_criteria_provided
missense_variant
Y
2,787,320
C
T
Pathogenic
9755
no_assertion_criteria_provided
missense_variant
Y
2,787,321
C
G
Pathogenic
9750
no_assertion_criteria_provided
missense_variant
Y
2,787,334
G
C
Pathogenic
9741
no_assertion_criteria_provided
missense_variant
Y
2,787,401
A
G
Pathogenic
9746
criteria_provided,_single_submitter
missense_variant
Y
2,787,412
C
T
Pathogenic
9747
no_assertion_criteria_provided
missense_variant
Y
2,787,426
C
G
Pathogenic
9739
criteria_provided,_single_submitter
missense_variant
Y
2,787,515
C
A
Pathogenic
492908
no_assertion_criteria_provided
missense_variant
Y
2,787,551
C
T
Pathogenic
9754
no_assertion_criteria_provided
missense_variant
Y
7,063,898
A
T
Pathogenic
625467
no_assertion_criteria_provided
missense_variant