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Links from MedGen

Items: 16

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr18:34320704
GRCh38:
Chr18:36740741
FHOD3S1029N, S1046N, S1221NCardiomyopathy, familial hypertrophic, 28Uncertain significance
(Mar 30, 2021)
criteria provided, single submitter
2.
GRCh37:
Chr18:34261473
GRCh38:
Chr18:36681510
FHOD3R462P, R637PCardiomyopathy, familial hypertrophic, 28Uncertain significance
(Jan 31, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr18:34232894
GRCh38:
Chr18:36652931
FHOD3not provided, Cardiomyopathy, familial hypertrophic, 28Uncertain significance
(May 1, 2023)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr18:33877878
GRCh38:
Chr18:36297915
FHOD3R27PCardiomyopathy, familial hypertrophic, 28, Inborn genetic diseasesUncertain significance
(Aug 2, 2021)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr18:34298479
GRCh38:
Chr18:36718516
FHOD3P1073R, P881R, P898RCardiomyopathy, familial hypertrophic, 28Uncertain significance
(Feb 2, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr18:34339085
GRCh38:
Chr18:36759122
FHOD3D1477GCardiomyopathy, familial hypertrophic, 28Uncertain significance
(Feb 2, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr18:34233380
GRCh38:
Chr18:36653417
FHOD3Cardiomyopathy, familial hypertrophic, 28Uncertain significance
(Jun 8, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr18:33935508
GRCh38:
Chr18:36355545
FHOD3D58HCardiomyopathy, familial hypertrophic, 28Uncertain significance
(Feb 8, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr18:34261472
GRCh38:
Chr18:36681509
FHOD3R462W, R637WCardiomyopathy, familial hypertrophic, 28Uncertain significance
(Feb 2, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr18:34205532
GRCh38:
Chr18:36625569
FHOD3R339QCardiomyopathy, familial hypertrophic, 28Uncertain significance
(May 6, 2021)
criteria provided, single submitter
11.
GRCh37:
Chr18:34289084
GRCh38:
Chr18:36709121
FHOD3S563T, S580T, S755TCardiomyopathy, familial hypertrophic, 28Uncertain significance
(Feb 2, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr18:34298389
GRCh38:
Chr18:36718426
FHOD3S1043N, S851N, S868NCardiomyopathy, familial hypertrophic, 28Uncertain significance
(Feb 2, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr18:34261476
GRCh38:
Chr18:36681513
FHOD3R463Q, R638QCardiomyopathy, familial hypertrophic, 28Uncertain significance
(Feb 2, 2022)
criteria provided, single submitter
14.
FHOD3Cardiomyopathy, familial hypertrophic, 28Pathogenic
(Jun 25, 2021)
no assertion criteria provided
15.
GRCh37:
Chr18:34232824-34232826
GRCh38:
Chr18:36652861-36652863
FHOD3S527delCardiomyopathy, familial hypertrophic, 28Pathogenic
(Jun 25, 2021)
no assertion criteria provided
16.
GRCh37:
Chr18:34232829
GRCh38:
Chr18:36652866
FHOD3Cardiomyopathy, familial hypertrophic, 28Likely pathogenic
(Dec 22, 2021)
criteria provided, single submitter
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