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Links from MedGen

Items: 90

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr7:91829600
GRCh38:
Chr7:92200286
KRIT1Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformationUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
2.
GRCh37:
Chr7:91828520
GRCh38:
Chr7:92199206
KRIT1Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformationBenign/Likely benign
(Jan 13, 2018)
criteria provided, single submitter
3.
GRCh37:
Chr7:91828495
GRCh38:
Chr7:92199181
KRIT1Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformationUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
4.
GRCh37:
Chr7:91875400
GRCh38:
Chr7:92246086
ANKIB1, KRIT1, LOC113748416Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformationUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
5.
GRCh37:
Chr7:91864212
GRCh38:
Chr7:92234898
KRIT1Y252C, Y14CAngiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformationUncertain significance
(Apr 27, 2017)
criteria provided, single submitter
6.
GRCh37:
Chr7:91864112
GRCh38:
Chr7:92234798
KRIT1Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformationConflicting interpretations of pathogenicity
(Apr 18, 2022)
criteria provided, conflicting interpretations
7.
GRCh37:
Chr7:91863921
GRCh38:
Chr7:92234607
KRIT1Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformationConflicting interpretations of pathogenicity
(Jan 12, 2018)
criteria provided, conflicting interpretations
8.
GRCh37:
Chr7:91830042
GRCh38:
Chr7:92200728
KRIT1Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformationUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr7:91830004
GRCh38:
Chr7:92200690
KRIT1Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformationConflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretations
10.
GRCh37:
Chr7:91874356
GRCh38:
Chr7:92245042
KRIT1Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformationUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr7:91829973
GRCh38:
Chr7:92200659
KRIT1Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformationUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr7:91829948
GRCh38:
Chr7:92200634
KRIT1Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformationUncertain significance
(Apr 27, 2017)
criteria provided, single submitter
13.
GRCh37:
Chr7:91829402
GRCh38:
Chr7:92200088
KRIT1Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformationUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
14.
GRCh37:
Chr7:91829191
GRCh38:
Chr7:92199877
KRIT1Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformationUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr7:91829132
GRCh38:
Chr7:92199818
KRIT1Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformationUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr7:91875328
GRCh38:
Chr7:92246014
ANKIB1, KRIT1, LOC113748416Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformationUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
17.
GRCh37:
Chr7:91875321
GRCh38:
Chr7:92246007
ANKIB1, KRIT1, LOC113748416Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformationUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr7:91829868
GRCh38:
Chr7:92200554
KRIT1Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformationUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr7:91829816
GRCh38:
Chr7:92200502
KRIT1Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformationBenign/Likely benign
(Jan 13, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr7:91829021
GRCh38:
Chr7:92199707
KRIT1Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformationUncertain significance
(Mar 30, 2018)
criteria provided, single submitter
21.
GRCh37:
Chr7:91828845
GRCh38:
Chr7:92199531
KRIT1Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformationUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
22.
GRCh37:
Chr7:91828693
GRCh38:
Chr7:92199379
KRIT1Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformationUncertain significance
(Feb 9, 2018)
criteria provided, single submitter
23.
GRCh37:
Chr7:91875277
GRCh38:
Chr7:92245963
KRIT1, LOC113748416Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformationUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr7:91875262
GRCh38:
Chr7:92245948
KRIT1, LOC113748416Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformationUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
25.
GRCh37:
Chr7:91871404
GRCh38:
Chr7:92242090
KRIT1R16CAngiokeratoma corporis diffusum with arteriovenous fistulas, Inborn genetic diseases, Cerebral cavernous malformation
Conflicting interpretations of pathogenicity
(Jun 30, 2022)
criteria provided, conflicting interpretations
26.
GRCh37:
Chr7:91855140
GRCh38:
Chr7:92225826
KRIT1H145R, H335R, H383RAngiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformationUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
27.
GRCh37:
Chr7:91874919
GRCh38:
Chr7:92245605
KRIT1Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformationUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
28.
GRCh37:
Chr7:91870433
GRCh38:
Chr7:92241119
KRIT1K46EAngiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformationUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
29.
GRCh37:
Chr7:91870339
GRCh38:
Chr7:92241025
KRIT1K77RAngiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformationUncertain significance
(Apr 28, 2017)
criteria provided, single submitter
30.
GRCh37:
Chr7:91842560
GRCh38:
Chr7:92213246
KRIT1Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformationUncertain significance
(Apr 27, 2017)
criteria provided, single submitter
31.
GRCh37:
Chr7:91829719
GRCh38:
Chr7:92200405
KRIT1Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformationUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
32.
GRCh37:
Chr7:91828593
GRCh38:
Chr7:92199279
KRIT1Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformationUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
33.
GRCh37:
Chr7:91842596
GRCh38:
Chr7:92213282
KRIT1Angiokeratoma corporis diffusum with arteriovenous fistulas, not provided, Cerebral cavernous malformation
Conflicting interpretations of pathogenicity
(Aug 8, 2018)
criteria provided, conflicting interpretations
34.
GRCh37:
Chr7:91864112
GRCh38:
Chr7:92234798
KRIT1not provided, Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformation
Benign/Likely benign
(Jan 19, 2018)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr7:91830695
GRCh38:
Chr7:92201381
KRIT1not provided, Cerebral cavernous malformation, Angiokeratoma corporis diffusum with arteriovenous fistulas
Conflicting interpretations of pathogenicity
(May 14, 2018)
criteria provided, conflicting interpretations
36.
GRCh37:
Chr7:91865761
GRCh38:
Chr7:92236447
KRIT1T151AAngiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformationUncertain significance
(Jul 27, 2022)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr7:91875404-91875405
GRCh38:
Chr7:92246090-92246091
ANKIB1, KRIT1Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformationUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr7:91875371
GRCh38:
Chr7:92246057
ANKIB1, KRIT1, LOC113748416Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformationBenign
(Jan 13, 2018)
criteria provided, single submitter
39.
GRCh37:
Chr7:91875331
GRCh38:
Chr7:92246017
ANKIB1, KRIT1, LOC113748416not provided, Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformation
Benign/Likely benign
(Jan 12, 2018)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr7:91875319
GRCh38:
Chr7:92246005
ANKIB1, KRIT1, LOC113748416not provided, Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformation
Benign/Likely benign
(Jan 1, 2023)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr7:91875310
GRCh38:
Chr7:92245996
ANKIB1, KRIT1, LOC113748416not specified, Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformation
Benign
(Apr 3, 2018)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr7:91875258
GRCh38:
Chr7:92245944
KRIT1, LOC113748416Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformationUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
43.
GRCh37:
Chr7:91875221
GRCh38:
Chr7:92245907
KRIT1, LOC113748416Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformationUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
44.
GRCh37:
Chr7:91875212
GRCh38:
Chr7:92245898
KRIT1, LOC113748416Cerebral cavernous malformation, Angiokeratoma corporis diffusum with arteriovenous fistulasUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
45.
GRCh37:
Chr7:91875208
GRCh38:
Chr7:92245894
KRIT1, LOC113748416Cerebral cavernous malformation, Angiokeratoma corporis diffusum with arteriovenous fistulasBenign
(Jan 13, 2018)
criteria provided, single submitter
46.
GRCh37:
Chr7:91874914
GRCh38:
Chr7:92245600
KRIT1Cerebral cavernous malformation, Angiokeratoma corporis diffusum with arteriovenous fistulasUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
47.
GRCh37:
Chr7:91874864
GRCh38:
Chr7:92245550
KRIT1Cerebral cavernous malformation, Angiokeratoma corporis diffusum with arteriovenous fistulasUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
48.
GRCh37:
Chr7:91874761
GRCh38:
Chr7:92245447
KRIT1Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformationUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
49.
GRCh37:
Chr7:91874459
GRCh38:
Chr7:92245145
KRIT1Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformationUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
50.
GRCh37:
Chr7:91874421
GRCh38:
Chr7:92245107
KRIT1Cerebral cavernous malformation, Angiokeratoma corporis diffusum with arteriovenous fistulasBenign/Likely benign
(Jan 12, 2018)
criteria provided, single submitter
51.
GRCh37:
Chr7:91874377
GRCh38:
Chr7:92245063
KRIT1Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformationBenign/Likely benign
(Jan 13, 2018)
criteria provided, single submitter
52.
GRCh37:
Chr7:91874372
GRCh38:
Chr7:92245058
KRIT1Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformationUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
53.
GRCh37:
Chr7:91874239
GRCh38:
Chr7:92244925
KRIT1Cerebral cavernous malformation, Angiokeratoma corporis diffusum with arteriovenous fistulasUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
54.
GRCh37:
Chr7:91873356
GRCh38:
Chr7:92244042
KRIT1Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformationBenign/Likely benign
(Jan 13, 2018)
criteria provided, single submitter
55.
GRCh37:
Chr7:91871458
GRCh38:
Chr7:92242144
KRIT1Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformationBenign/Likely benign
(Jan 13, 2018)
criteria provided, single submitter
56.
GRCh37:
Chr7:91871373
GRCh38:
Chr7:92242059
KRIT1R26Qnot provided, Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformation
Conflicting interpretations of pathogenicity
(Oct 24, 2022)
criteria provided, conflicting interpretations
57.
GRCh37:
Chr7:91867034
GRCh38:
Chr7:92237720
KRIT1G101VCerebral cavernous malformation, Angiokeratoma corporis diffusum with arteriovenous fistulasBenign/Likely benign
(Apr 29, 2021)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr7:91863910-91863911
GRCh38:
Chr7:92234596-92234597
KRIT1Cerebral cavernous malformation, Angiokeratoma corporis diffusum with arteriovenous fistulas, not provided
Conflicting interpretations of pathogenicity
(Oct 17, 2022)
criteria provided, conflicting interpretations
59.
GRCh37:
Chr7:91855923
GRCh38:
Chr7:92226609
KRIT1L355F, L117F, L307FAngiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformationConflicting interpretations of pathogenicity
(Jul 17, 2022)
criteria provided, conflicting interpretations
60.
GRCh37:
Chr7:91855847
GRCh38:
Chr7:92226533
KRIT1T380M, T332M, T142MAngiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformationConflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretations
61.
GRCh37:
Chr7:91855832
GRCh38:
Chr7:92226518
KRIT1Cerebral cavernous malformation, Angiokeratoma corporis diffusum with arteriovenous fistulasBenign/Likely benign
(Jul 19, 2022)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr7:91855043
GRCh38:
Chr7:92225729
KRIT1I415M, I177M, I367MCerebral cavernous malformation, Angiokeratoma corporis diffusum with arteriovenous fistulas, Inborn genetic diseases,
not provided
Benign/Likely benign
(Aug 9, 2022)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr7:91851376
GRCh38:
Chr7:92222062
KRIT1not specified, Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformation
Benign/Likely benign
(Sep 26, 2022)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr7:91830678-91830683
GRCh38:
Chr7:92201364-92201369
KRIT1Cerebral cavernous malformation, Angiokeratoma corporis diffusum with arteriovenous fistulasUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
65.
GRCh37:
Chr7:91829993
GRCh38:
Chr7:92200679
KRIT1Cerebral cavernous malformation, Angiokeratoma corporis diffusum with arteriovenous fistulasBenign/Likely benign
(Jan 13, 2018)
criteria provided, single submitter
66.
GRCh37:
Chr7:91829988
GRCh38:
Chr7:92200674
KRIT1Cerebral cavernous malformation, Angiokeratoma corporis diffusum with arteriovenous fistulasUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
67.
GRCh37:
Chr7:91829918
GRCh38:
Chr7:92200604
KRIT1Cerebral cavernous malformation, not provided, Angiokeratoma corporis diffusum with arteriovenous fistulas
Conflicting interpretations of pathogenicity
(Jul 1, 2022)
criteria provided, conflicting interpretations
68.
GRCh37:
Chr7:91829913
GRCh38:
Chr7:92200599
KRIT1Cerebral cavernous malformation, not provided, Angiokeratoma corporis diffusum with arteriovenous fistulas
Conflicting interpretations of pathogenicity
(Jul 1, 2022)
criteria provided, conflicting interpretations
69.
GRCh37:
Chr7:91829909
GRCh38:
Chr7:92200595
KRIT1Cerebral cavernous malformation, Angiokeratoma corporis diffusum with arteriovenous fistulas, not provided
Benign
(Aug 1, 2022)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr7:91829778
GRCh38:
Chr7:92200464
KRIT1not provided, Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformation
Benign
(May 12, 2021)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr7:91829730
GRCh38:
Chr7:92200416
KRIT1Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformationBenign
(Jan 12, 2018)
criteria provided, single submitter
72.
GRCh37:
Chr7:91829689
GRCh38:
Chr7:92200375
KRIT1Cerebral cavernous malformation, Angiokeratoma corporis diffusum with arteriovenous fistulasUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
73.
GRCh37:
Chr7:91829678-91829679
GRCh38:
Chr7:92200364-92200365
KRIT1Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformationUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
74.
GRCh37:
Chr7:91829671-91829672
GRCh38:
Chr7:92200357-92200358
KRIT1Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformationBenign
(Jun 14, 2016)
criteria provided, single submitter
75.
GRCh37:
Chr7:91829614
GRCh38:
Chr7:92200300
KRIT1Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformationUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
76.
GRCh37:
Chr7:91829599
GRCh38:
Chr7:92200285
KRIT1Cerebral cavernous malformation, Angiokeratoma corporis diffusum with arteriovenous fistulasUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
77.
GRCh37:
Chr7:91829472
GRCh38:
Chr7:92200158
KRIT1Cerebral cavernous malformation, Angiokeratoma corporis diffusum with arteriovenous fistulasUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
78.
GRCh37:
Chr7:91829165
GRCh38:
Chr7:92199851
KRIT1Cerebral cavernous malformation, Angiokeratoma corporis diffusum with arteriovenous fistulasUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
79.
GRCh37:
Chr7:91828715
GRCh38:
Chr7:92199401
KRIT1Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformationBenign
(Jan 12, 2018)
criteria provided, single submitter
80.
GRCh37:
Chr7:91828687
GRCh38:
Chr7:92199373
KRIT1Angiokeratoma corporis diffusum with arteriovenous fistulas, not provided, Cerebral cavernous malformation
Benign/Likely benign
(Jun 1, 2023)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr7:91828665
GRCh38:
Chr7:92199351
KRIT1Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformationBenign
(Jan 12, 2018)
criteria provided, single submitter
82.
GRCh37:
Chr7:91828606
GRCh38:
Chr7:92199292
KRIT1Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformationBenign
(Jan 12, 2018)
criteria provided, single submitter
83.
GRCh37:
Chr7:91828395
GRCh38:
Chr7:92199081
KRIT1Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformationUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
84.
GRCh37:
Chr7:91828348
GRCh38:
Chr7:92199034
KRIT1Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformationBenign
(Jan 13, 2018)
criteria provided, single submitter
85.
GRCh37:
Chr7:91828300
GRCh38:
Chr7:92198986
KRIT1Angiokeratoma corporis diffusum with arteriovenous fistulas, Cerebral cavernous malformationBenign/Likely benign
(Jan 12, 2018)
criteria provided, single submitter
86.
GRCh37:
Chr7:91842554
GRCh38:
Chr7:92213240
KRIT1Cerebral cavernous malformation, not provided, Angiokeratoma corporis diffusum with arteriovenous fistulas,
not specified
Benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr7:91843215
GRCh38:
Chr7:92213901
KRIT1Cerebral cavernous malformation, Inborn genetic diseases, Angiokeratoma corporis diffusum with arteriovenous fistulas,
not specified
Benign/Likely benign
(Aug 7, 2022)
criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr7:91852221
GRCh38:
Chr7:92222907
KRIT1not specified, Inborn genetic diseases, Cerebral cavernous malformation,
Angiokeratoma corporis diffusum with arteriovenous fistulas
Conflicting interpretations of pathogenicity
(May 6, 2022)
criteria provided, conflicting interpretations
89.
GRCh37:
Chr7:91855846
GRCh38:
Chr7:92226532
KRIT1not provided, Inborn genetic diseases, not specified,
Cerebral cavernous malformation, Angiokeratoma corporis diffusum with arteriovenous fistulas
Benign/Likely benign
(Oct 17, 2022)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr7:91855891
GRCh38:
Chr7:92226577
KRIT1Inborn genetic diseases, not specified, Cerebral cavernous malformation,
Angiokeratoma corporis diffusum with arteriovenous fistulas, not provided
Benign/Likely benign
(Oct 17, 2022)
criteria provided, multiple submitters, no conflicts
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