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Links from MedGen

Items: 12

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr5:177035567
GRCh38:
Chr5:177608566
B4GALT7G223SEhlers-Danlos syndrome, spondylodysplastic type, 1Uncertain significance
(Dec 14, 2022)
criteria provided, single submitter
2.
GRCh37:
Chr5:177031317
GRCh38:
Chr5:177604316
B4GALT7G63VEhlers-Danlos syndrome, spondylodysplastic type, 1Uncertain significance
(Aug 16, 2021)
criteria provided, single submitter
3.
GRCh37:
Chr5:177035585
GRCh38:
Chr5:177608584
B4GALT7D229NEhlers-Danlos syndrome, spondylodysplastic type, 1, Ehlers-Danlos syndrome progeroid typeUncertain significance
(May 16, 2022)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr5:177034509
GRCh38:
Chr5:177607508
B4GALT7S207FEhlers-Danlos syndrome progeroid type, Ehlers-Danlos syndrome, spondylodysplastic type, 1Uncertain significance
(May 27, 2022)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr5:177034533
GRCh38:
Chr5:177607532
B4GALT7Ehlers-Danlos syndrome progeroid type, Ehlers-Danlos syndrome, spondylodysplastic type, 1Uncertain significance
(Aug 1, 2021)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr5:177031466
GRCh38:
Chr5:177604465
B4GALT7P113SEhlers-Danlos syndrome, spondylodysplastic type, 1, Ehlers-Danlos syndrome progeroid type, Ehlers-Danlos syndrome
Uncertain significance
(Jun 11, 2022)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr5:177035978
GRCh38:
Chr5:177608977
B4GALT7R264Qnot provided, Ehlers-Danlos syndrome, spondylodysplastic type, 1, Ehlers-Danlos syndrome progeroid type
Uncertain significance
(Mar 2, 2022)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr5:177027249
GRCh38:
Chr5:177600248
B4GALT7, LOC129995400W13*not provided, Ehlers-Danlos syndrome progeroid type, Ehlers-Danlos syndrome, spondylodysplastic type, 1,
Ehlers-Danlos syndrome
Conflicting interpretations of pathogenicity
(Apr 19, 2023)
criteria provided, conflicting interpretations
9.
GRCh37:
Chr5:177031401-177031402
GRCh38:
Chr5:177604400-177604401
B4GALT7H93fsEhlers-Danlos syndrome, spondylodysplastic type, 1, Inborn genetic diseases, not provided,
Ehlers-Danlos syndrome progeroid type
Conflicting interpretations of pathogenicity
(Jan 6, 2023)
criteria provided, conflicting interpretations
10.
GRCh37:
Chr5:177034310
GRCh38:
Chr5:177607309
B4GALT7R141WEhlers-Danlos syndrome, spondylodysplastic type, 1, not provided, Ehlers-Danlos syndrome progeroid type
Pathogenic/Likely pathogenic
(Dec 21, 2022)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr5:177035587
GRCh38:
Chr5:177608586
B4GALT7Ehlers-Danlos syndrome, spondylodysplastic type, 1, not provided, Ehlers-Danlos syndrome progeroid type
Conflicting interpretations of pathogenicity
(Oct 20, 2022)
criteria provided, conflicting interpretations
12.
GRCh37:
Chr5:177035995
GRCh38:
Chr5:177608994
B4GALT7R270CEhlers-Danlos syndrome, spondylodysplastic type, 1, Lethal skeletal dysplasia, not provided,
Ehlers-Danlos syndrome progeroid type
Pathogenic
(Dec 22, 2022)
criteria provided, multiple submitters, no conflicts
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