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Links from MedGen

Items: 39

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr3:45527244
GRCh38:
Chr3:45485752
LARS2, LARS2-AS1I360TPerrault syndrome 4Likely pathogeniccriteria provided, single submitter
2.
GRCh37:
Chr3:45557646
GRCh38:
Chr3:45516154
LARS2S641NInborn genetic diseases, Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome, not provided,
Perrault syndrome 4		Uncertain significance
(Apr 10, 2022)		criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr3:45588918
GRCh38:
Chr3:45547426
LARS2V870FPerrault syndrome 4Uncertain significance
(Nov 16, 2021)		criteria provided, single submitter
4.
GRCh37:
Chr3:45559422
GRCh38:
Chr3:45517930
LARS2W691*Perrault syndrome 4Likely pathogenic
(Nov 16, 2021)		criteria provided, single submitter
5.
GRCh37:
Chr3:45588850
GRCh38:
Chr3:45547358
LARS2N847SHydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome, Perrault syndrome 4, not provided
Uncertain significance
(Aug 12, 2022)		criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr3:45541981
GRCh38:
Chr3:45500489
LARS2, LARS2-AS1Y557CPerrault syndrome 4Pathogenic
(Feb 27, 2022)		no assertion criteria provided
7.
GRCh37:
Chr3:45561781
GRCh38:
Chr3:45520289
LARS2A762DPerrault syndrome 4Uncertain significance
(Oct 5, 2020)		criteria provided, single submitter
8.
GRCh37:
Chr3:45435986-45435987
GRCh38:
Chr3:45394494-45394495
LARS2L14fsPerrault syndrome 4Pathogenicno assertion criteria provided
9.
GRCh37:
Chr3:45554648
GRCh38:
Chr3:45513156
LARS2A595fsPerrault syndrome 4Pathogenicno assertion criteria provided
10.
GRCh37:
Chr3:45537799
GRCh38:
Chr3:45496307
LARS2, LARS2-AS1T519Mnot providedUncertain significance
(Aug 21, 2019)		criteria provided, single submitter
11.
GRCh37:
Chr3:45517981
GRCh38:
Chr3:45476489
LARS2E294Knot providedLikely pathogenic
(Sep 7, 2023)		criteria provided, single submitter
12.
GRCh37:
Chr3:45557703
GRCh38:
Chr3:45516211
LARS2D660VPerrault syndrome 4Uncertain significance
(Jan 1, 2019)		criteria provided, single submitter
13.
GRCh37:
Chr3:45530302
GRCh38:
Chr3:45488810
LARS2, LARS2-AS1E413Knot provided, Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome, Perrault syndrome 4
Uncertain significance
(Sep 28, 2022)		criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr3:45537850
GRCh38:
Chr3:45496358
LARS2, LARS2-AS1P536LHydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome, Perrault syndrome 4Likely pathogenic
(Mar 31, 2022)		criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr3:45459050
GRCh38:
Chr3:45417558
LARS2Q147PHydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome, Perrault syndrome 4Likely pathogenic
(Mar 31, 2022)		criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr3:45500311
GRCh38:
Chr3:45458819
LARS2R228HHydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome, not providedLikely pathogenic
(Jul 30, 2022)		criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr3:45561765
GRCh38:
Chr3:45520273
LARS2M757LPerrault syndrome 4Uncertain significance
(Mar 28, 2017)		criteria provided, single submitter
18.
GRCh37:
Chr3:45554650
GRCh38:
Chr3:45513158
LARS2A595DPerrault syndrome 4Uncertain significance
(Mar 28, 2017)		criteria provided, single submitter
19.
GRCh37:
Chr3:45530243
GRCh38:
Chr3:45488751
LARS2, LARS2-AS1A393Dnot specified, not provided, Perrault syndrome 4,
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome		Conflicting interpretations of pathogenicity
(Feb 1, 2023)		criteria provided, conflicting interpretations
20.
GRCh37:
Chr3:45527280
GRCh38:
Chr3:45485788
LARS2, LARS2-AS1S372*Perrault syndrome 4Likely pathogenic
(Aug 14, 2018)		criteria provided, single submitter
21.
GRCh37:
Chr3:45554680
GRCh38:
Chr3:45513188
LARS2R605Hnot specified, Perrault syndrome 4, Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome,
not provided		Uncertain significance
(Aug 23, 2022)		criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr3:45458981
GRCh38:
Chr3:45417489
LARS2N124IPerrault syndrome 4Pathogenic
(Jan 6, 2017)		criteria provided, single submitter
23.
GRCh37:
Chr3:45557711
GRCh38:
Chr3:45516219
LARS2R663WPerrault syndrome 4Pathogenic
(Jan 6, 2017)		criteria provided, single submitter
24.
Perrault syndrome 4Pathogenic
(May 18, 2015)		criteria provided, single submitter
25.
GRCh37:
Chr3:45588912
GRCh38:
Chr3:45547420
LARS2E868KPerrault syndrome 4, not provided, not specified
Benign/Likely benign
(Oct 8, 2022)		criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr3:45588930
GRCh38:
Chr3:45547438
LARS2E874KPerrault syndrome 4, not specified, not provided,
Inborn genetic diseases		Uncertain significance
(Jul 19, 2022)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr3:45565554
GRCh38:
Chr3:45524062
LARS2Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome, not specified, Perrault syndrome 4,
not provided		Benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr3:45559519
GRCh38:
Chr3:45518027
LARS2Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome, Perrault syndrome 4, not specified,
not provided		Benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr3:45557707
GRCh38:
Chr3:45516215
LARS2Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome, Perrault syndrome 4, not provided,
not specified		Benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr3:45542083
GRCh38:
Chr3:45500591
LARS2, LARS2-AS1Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome, Perrault syndrome 4, not specified,
not provided		Benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr3:45533224
GRCh38:
Chr3:45491732
LARS2, LARS2-AS1not specified, Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome, not provided,
Perrault syndrome 4		Benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr3:45527218
GRCh38:
Chr3:45485726
LARS2, LARS2-AS1not specified, Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome, not provided,
Perrault syndrome 4		Benign
(Nov 1, 2022)		criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr3:45583409
GRCh38:
Chr3:45541917
LARS2E831Dnot specified, Perrault syndrome 4, not provided
Benign
(Nov 3, 2022)		criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr3:45557636
GRCh38:
Chr3:45516144
LARS2E638KPerrault syndrome 4Pathogenic
(May 18, 2015)		criteria provided, single submitter
35.
GRCh37:
Chr3:45518000
GRCh38:
Chr3:45476508
LARS2T300MPerrault syndrome 4Pathogenic
(May 18, 2015)		criteria provided, single submitter
36.
GRCh37:
Chr3:45461162
GRCh38:
Chr3:45419670
LARS2N153HPerrault syndrome 4, Perrault syndromeLikely pathogenic
(Aug 1, 2020)		criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr3:45527241
GRCh38:
Chr3:45485749
LARS2, LARS2-AS1I360fsPerrault syndrome 4Pathogenic
(May 6, 2019)		criteria provided, single submitter
38.
GRCh37:
Chr3:45557610
GRCh38:
Chr3:45516118
LARS2T629MNonsyndromic genetic hearing lossPathogenic
(Jul 15, 2021)		criteria provided, single submitter
39.
GRCh37:
Chr3:45537808
GRCh38:
Chr3:45496316
LARS2, LARS2-AS1T522NPerrault syndrome 4, Perrault syndrome, not provided,
Rare genetic deafness		Pathogenic/Likely pathogenic
(Jul 17, 2023)		criteria provided, multiple submitters, no conflicts
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