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Items: 15

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr1:76199222
GRCh38:
Chr1:75733537
ACADMG103V, G99V, G132V, G63VMedium-chain acyl-coenzyme A dehydrogenase deficiency, not providedUncertain significance
(Dec 30, 2020)
criteria provided, multiple submitters, no conflictsVCV000226063
2.
GRCh37:
Chr3:15518703
GRCh38:
Chr3:15477196
COLQG122V, G132V, G98VCongenital myasthenic syndrome 5Uncertain significance
(Oct 19, 2021)
criteria provided, single submitterVCV001387882
3.
GRCh37:
Chr5:86564663-86564664
GRCh38:
Chr5:87268846-87268847
RASA1G132VCapillary malformation-arteriovenous malformation syndromeUncertain significance
(Aug 28, 2021)
criteria provided, single submitterVCV000464868
4.
GRCh37:
Chr5:112103030
GRCh38:
Chr5:112767333
APCG132V, G122V, G63V, G97Vnot provided, Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
Uncertain significance
(May 26, 2022)
criteria provided, multiple submitters, no conflictsVCV000482299
5.
GRCh37:
Chr7:87214929
GRCh38:
Chr7:87585613
ABCB1G62V, G132VTramadol responsedrug response
(Apr 28, 2018)
no assertion criteria providedVCV000829370
6.
GRCh37:
Chr8:90983462
GRCh38:
Chr8:89971234
NBNG132V, G214VHereditary cancer-predisposing syndromeUncertain significance
(Apr 4, 2019)
criteria provided, single submitterVCV000919341
7.
GRCh37:
Chr9:13223708
GRCh38:
Chr9:13223709
MPDZG132Vnot providedUncertain significance
(Dec 19, 2021)
criteria provided, single submitterVCV001055498
8.
GRCh37:
Chr10:89692911
GRCh38:
Chr10:87933154
PTENG132V, G305VHereditary cancer-predisposing syndrome, not provided, Cowden syndrome 1,
PTEN hamartoma tumor syndrome
Pathogenic/Likely pathogenic
(Aug 13, 2021)
criteria provided, multiple submitters, no conflictsVCV000007852
9.
GRCh37:
Chr11:31823314
GRCh38:
Chr11:31801766
PAX6G51V, G90V, G65V, G66V, G132V, G76VOcular anterior segment dysgenesis, Irido-corneo-trabecular dysgenesisPathogenic/Likely pathogenic
(Mar 31, 2020)
no assertion criteria providedVCV000068469
10.
GRCh37:
Chr14:53619422
GRCh38:
Chr14:53152704
DDHD1G132Vnot providedUncertain significance
(Jan 6, 2020)
criteria provided, single submitterVCV001311754
11.
GRCh37:
Chr16:49672668
GRCh38:
Chr16:49638757
ZNF423G132V, G140V, G15V, G72VNephronophthisis 14Uncertain significance
(Sep 17, 2021)
criteria provided, single submitterVCV001062538
12.
GRCh37:
Chr17:47696428
GRCh38:
Chr17:49619066
SPOPG132VNeurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomaliesLikely pathogenic
(Sep 10, 2020)
criteria provided, single submitterVCV000830357
13.
GRCh37:
Chr19:4110562
GRCh38:
Chr19:4110564
MAP2K2G132VRASopathyLikely pathogenic
(Aug 12, 2021)
criteria provided, single submitterVCV001495968
14.
GRCh37:
ChrX:135289326
GRCh38:
ChrX:136207167
FHL1G103V, G119V, G132Vnot provided, X-linked myopathy with postural muscle atrophyUncertain significance
(Sep 24, 2021)
criteria provided, multiple submitters, no conflictsVCV000497860
15.
GRCh37:
ChrX:152956759
GRCh38:
ChrX:153691304
SLC6A8G132V, G17VCreatine transporter deficiencyPathogenic
(Nov 14, 2006)
no assertion criteria providedVCV000011703
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