LPIN2 (NM_014646.2) sequence variants

Editor(s): Hatem EL-SHANTI   

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Total current number of sequence variants for LPIN2 : 35

*Name as first published or submitted to Infevers. May be different from the HGVS edited protein and sequence names.

** If you have new data: please send us a re-evaluation proposal here

HGVS sequence name
HGVS protein name
Usual name*
Classification**
Status**
Simple variant
Complex alleles
5UT
c.-173A>T
p.?
c.-173A>T
Not classifiedTo be validated
 2013-08-27
exon 2
c.132_138del
p.(Gln44Hisfs*13)
Q44Hfs*13
Likely pathogenicTo be validated
 2019-05-13
intron 3
c.288+63G>A
p.?
c.288+63G>A
Not classifiedTo be validated
 2013-09-12
exon 4
c.540_541del
p.(Cys181*)
T180fs
Not classifiedTo be validated
 2005-07-01
intron 4
c.590+10_590+11dupTC
p.?
c.590+10_590+11dupTC
Not classifiedTo be validated
 2020-06-02
exon 7
c.895C>T
p.(Arg299Trp)
R299W
Likely pathogenicTo be validated
 2019-05-13
exon 7
c.991G>T
p.(Ala331Ser)
A331S
Not classifiedTo be validated
 2008-03-28
exon 7
c.1043C>T
p.(Pro348Leu)
P348L
Not classifiedTo be validated
 2008-03-28
exon 7
c.1159A>G
p.(Lys387Glu)
K387E
Not classifiedTo be validated
 2008-03-28
intron 7
c.1168+44T>C
p.?
c.1168+44T>C
Not classifiedTo be validated
 2013-09-12
intron 7
c.1169-3C>T
p.?
1169-3C>T
Uncertain significance (VUS)To be validated
 2019-05-13
exon 9
c.1282G>A
p.(Gly428Ser)
G428S
Uncertain significance (VUS)To be validated
 2019-07-16
exon 9
c.1312_1313delCT
p.(Ser439Trpfs*15)
p.Ser439Trpfs*15
Not classifiedTo be validated
 2013-02-16
exon 9
c.1456del
p.(Glu486Lysfs*20)
E486Kfs*20
Not classifiedTo be validated
 2019-05-13
intron 9
c.1456+29A>G
p.?
c.1456+29A>G
Not classifiedTo be validated
 2013-08-27
exon 10
c.1510C>T
p.(Leu504Phe)
L504F
Not classifiedTo be validated
 2008-03-28
exon 12
c.1685G>A
p.(Arg562Gln)
R562Q
Not classifiedTo be validated
 2021-01-11
exon 12
c.1691_1694delGAGA
p.(Arg564Lysfs*3)
R564Kfs*3
Likely pathogenicTo be validated
 2020-01-28
exon 12
c.1691_1694del
p.(Arg564Lysfs*3)
c.1691_1694delGAGA
Likely pathogenicTo be validated
 2020-08-28
exon 13
c.1735T>C
p.(Ser579Pro)
S579P
Uncertain significance (VUS)To be validated
 2019-07-16
exon 13
c.1786G>A
p.(Gly596Ser)
G596S
Not classifiedTo be validated
 2021-01-11
exon 14
c.1796C>T
p.(Pro599Leu)
P599L
Uncertain significance (VUS)To be validated
 2019-07-16
exon 14
c.1801G>A
p.(Glu601Lys)
E601K
Not classifiedTo be validated
 2008-03-28
exon 14
c.1876C>T
p.(Pro626Ser)
P626S
Not classifiedTo be validated
 2011-01-04
exon 14
c.1931A>G
p.(Asp644Gly)
D644G
Uncertain significance (VUS)To be validated
 2019-08-26
intron 16
c.2174+74A>T
p.?
c.2174+74A>T
Not classifiedTo be validated
 2013-09-12
exon 17
c.2196C>G
p.(Tyr732*)
Y732Stop
Not classifiedTo be validated
 2021-01-11
exon 17
c.2201C>T
p.(Ser734Leu)
S734L
Not classifiedTo be validated
 2005-07-01
exon 17
c.2223C>T
p.(Ala741=)
A741A
Not classifiedTo be validated
 2009-08-04
intron 17
c.2327+1G>C
p.?
Arg776SerfsX66
Not classifiedTo be validated
 2007-05-15
exon 19
c.2468G>C
p.(Gly823Ala)
G823A
Uncertain significance (VUS)To be validated
 2019-07-16
intron 19
c.2546+51T>A
p.?
c.2546+51T>A
Not classifiedTo be validated
 2013-09-12
exon 20
c.2621G>T
p.(Cys874Phe)
C874F
Uncertain significance (VUS)To be validated
 2019-05-13
exon 20
c.2625G>A
p.(Pro875=)
P875P
Uncertain significance (VUS)To be validated
 2019-05-13
3UT
c.*3C>T
p.?
c.*3C>T
Not classifiedTo be validated
 2011-09-01