U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 11

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr19:41860649
GRCh38:
Chr19:41354744
B9D2G162CInborn genetic diseases, Meckel syndrome, type 10, Familial aplasia of the vermis,
Meckel-Gruber syndrome, not specified, not provided
Uncertain significance
(Aug 2, 2022)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr19:41869487-41869488
GRCh38:
Chr19:41363582-41363583
B9D2Meckel syndrome, type 10, not providedBenign
(Jul 14, 2021)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr19:41869468
GRCh38:
Chr19:41363563
B9D2Meckel syndrome, type 10, not providedBenign
(Jul 14, 2021)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr19:41863777
GRCh38:
Chr19:41357872
B9D2Meckel syndrome, type 10, not providedBenign
(Jul 14, 2021)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr19:41863848
GRCh38:
Chr19:41357943
B9D2Y56*Meckel syndrome, type 10Likely pathogenic
(Aug 2, 2019)
criteria provided, single submitter
6.
GRCh37:
Chr19:41869410
GRCh38:
Chr19:41363505
B9D2H5QMeckel syndrome, type 10Likely pathogeniccriteria provided, single submitter
7.
GRCh37:
Chr19:41869331
GRCh38:
Chr19:41363426
B9D2not specified, not provided, Meckel-Gruber syndrome,
Familial aplasia of the vermis, Meckel syndrome, type 10
Benign/Likely benign
(Aug 31, 2022)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr19:41869392
GRCh38:
Chr19:41363487
B9D2I11MMeckel-Gruber syndrome, Familial aplasia of the vermis, not specified,
not provided, Meckel syndrome, type 10
Benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr19:41860587
GRCh38:
Chr19:41354682
B9D2not specified, Meckel-Gruber syndrome, Familial aplasia of the vermis,
not provided, Meckel syndrome, type 10
Benign
(Oct 31, 2022)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr19:41860832
GRCh38:
Chr19:41354927
B9D2S101RMeckel syndrome, type 10Pathogenic
(Jul 15, 2011)
no assertion criteria provided
11.
GRCh37:
Chr19:41858921
GRCh38:
Chr19:41353016
TGFB1P10LInflammatory bowel disease, immunodeficiency, and encephalopathy, not specified, not provided,
Meckel syndrome, type 10, Diaphyseal dysplasia
Benign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
Format
Items per page
Sort by
Choose Destination