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Links from MedGen

Items: 41

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr19:7600703
GRCh38:
Chr19:7535817
PNPLA6T10R, T19RAtaxia-hypogonadism-choroidal dystrophy syndrome, Hereditary spastic paraplegia 39, Trichomegaly-retina pigmentary degeneration-dwarfism syndrome,
Laurence-Moon syndrome
Uncertain significance
(Jul 16, 2021)
criteria provided, single submitter
2.
GRCh37:
Chr19:7625915
GRCh38:
Chr19:7561029
PNPLA6S1213G, S1240G, S1278G, S1288GAtaxia-hypogonadism-choroidal dystrophy syndromeUncertain significance
(Jan 3, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr19:7605846
GRCh38:
Chr19:7540960
PNPLA6A239G, A278G, A287GHereditary spastic paraplegia 39, Ataxia-hypogonadism-choroidal dystrophy syndromeUncertain significance
(Apr 4, 2022)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr19:7616347
GRCh38:
Chr19:7551461
PNPLA6Ataxia-hypogonadism-choroidal dystrophy syndrome, Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, Laurence-Moon syndrome,
Hereditary spastic paraplegia 39, not provided
Benign
(Oct 25, 2021)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr19:7621648
GRCh38:
Chr19:7556762
PNPLA6not provided, Hereditary spastic paraplegia 39, Trichomegaly-retina pigmentary degeneration-dwarfism syndrome,
Laurence-Moon syndrome, Ataxia-hypogonadism-choroidal dystrophy syndrome
Benign
(Oct 25, 2021)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr19:7623700
GRCh38:
Chr19:7558814
PNPLA6Laurence-Moon syndrome, Hereditary spastic paraplegia 39, Ataxia-hypogonadism-choroidal dystrophy syndrome,
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, not provided
Benign
(Oct 25, 2021)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr19:7624078
GRCh38:
Chr19:7559192
PNPLA6Ataxia-hypogonadism-choroidal dystrophy syndrome, Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, Hereditary spastic paraplegia 39,
Laurence-Moon syndrome, not provided
Benign
(Oct 25, 2021)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr19:7619199
GRCh38:
Chr19:7554313
PNPLA6Hereditary spastic paraplegia 39, Laurence-Moon syndrome, not provided,
Ataxia-hypogonadism-choroidal dystrophy syndrome, Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Benign
(Oct 25, 2021)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr19:7619648
GRCh38:
Chr19:7554762
PNPLA6not provided, Ataxia-hypogonadism-choroidal dystrophy syndrome, Trichomegaly-retina pigmentary degeneration-dwarfism syndrome,
Laurence-Moon syndrome, Hereditary spastic paraplegia 39
Benign
(Oct 25, 2021)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr19:7619647
GRCh38:
Chr19:7554761
PNPLA6Hereditary spastic paraplegia 39, not provided, Ataxia-hypogonadism-choroidal dystrophy syndrome,
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, Laurence-Moon syndrome
Benign
(Oct 25, 2021)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr19:7621349
GRCh38:
Chr19:7556463
PNPLA6S1035L, S1045L, S970L, S997LHereditary spastic paraplegia 39Pathogenic
(Sep 28, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr19:7626401
GRCh38:
Chr19:7561515
PNPLA6R1286*, R1313*, R1351*, R1361*Hereditary spastic paraplegia, Hereditary spastic paraplegia 39, Ataxia-hypogonadism-choroidal dystrophy syndrome,
not provided
Conflicting interpretations of pathogenicity
(Nov 2, 2023)
criteria provided, conflicting interpretations
13.
GRCh37:
Chr19:7622108
GRCh38:
Chr19:7557222
PNPLA6P1047L, P1074L, P1112L, P1122LHereditary spastic paraplegia 39, Ataxia-hypogonadism-choroidal dystrophy syndromeConflicting interpretations of pathogenicity
(Nov 12, 2021)
criteria provided, conflicting interpretations
14.
GRCh37:
Chr19:7620549
GRCh38:
Chr19:7555663
PNPLA6D1008G, D933G, D960G, D998GAtaxia-hypogonadism-choroidal dystrophy syndromeLikely pathogenic
(Jul 12, 2021)
criteria provided, single submitter
15.
GRCh37:
Chr19:7622131
GRCh38:
Chr19:7557245
PNPLA6H1055Y, H1082Y, H1120Y, H1130YAtaxia-hypogonadism-choroidal dystrophy syndromeLikely pathogenic
(Jul 12, 2021)
criteria provided, single submitter
16.
GRCh37:
Chr19:7616300
GRCh38:
Chr19:7551414
PNPLA6Q681P, Q707P, Q746P, Q755PAtaxia-hypogonadism-choroidal dystrophy syndromeLikely pathogenic
(Jul 12, 2021)
criteria provided, single submitter
17.
GRCh37:
Chr19:7615222
GRCh38:
Chr19:7550336
PNPLA6A618V, A627V, A553V, A579VAtaxia-hypogonadism-choroidal dystrophy syndrome, Hereditary spastic paraplegia 39Conflicting interpretations of pathogenicity
(Aug 20, 2021)
criteria provided, conflicting interpretations
18.
GRCh37:
Chr19:7624079
GRCh38:
Chr19:7559193
PNPLA6Ataxia-hypogonadism-choroidal dystrophy syndrome, not provided, Trichomegaly-retina pigmentary degeneration-dwarfism syndrome,
Laurence-Moon syndrome, Hereditary spastic paraplegia 39
Benign
(Oct 25, 2021)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr19:7607714
GRCh38:
Chr19:7542828
PNPLA6S438L, S477L, S486LLaurence-Moon syndrome, Ataxia-hypogonadism-choroidal dystrophy syndrome, Hereditary spastic paraplegia 39,
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, Hereditary spastic paraplegia 39
Uncertain significance
(Aug 16, 2022)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr19:7607776
GRCh38:
Chr19:7542890
PNPLA6A459T, A507T, A498TTrichomegaly-retina pigmentary degeneration-dwarfism syndrome, Ataxia-hypogonadism-choroidal dystrophy syndrome, Hereditary spastic paraplegia 39,
Laurence-Moon syndrome, Hereditary spastic paraplegia 39
Uncertain significance
(Jun 27, 2022)
criteria provided, multiple submitters, no conflicts
21.
Ataxia-hypogonadism-choroidal dystrophy syndromePathogenic
(Jun 20, 2017)
no assertion criteria provided
22.
GRCh37:
Chr19:7626014
GRCh38:
Chr19:7561128
PNPLA6Hereditary spastic paraplegia 39, Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, Laurence-Moon syndrome,
not provided, Ataxia-hypogonadism-choroidal dystrophy syndrome
Benign
(Oct 7, 2022)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr19:7626183
GRCh38:
Chr19:7561297
PNPLA6P1297S, P1270S, P1335S, P1345Snot provided, Hereditary spastic paraplegia 39Conflicting interpretations of pathogenicity
(Oct 20, 2022)
criteria provided, conflicting interpretations
24.
GRCh37:
Chr19:7622128
GRCh38:
Chr19:7557242
PNPLA6G1081R, G1119R, G1129R, G1054RAtaxia-hypogonadism-choroidal dystrophy syndrome, not provided, Hereditary spastic paraplegia 39
Pathogenic/Likely pathogenic
(Sep 18, 2021)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr19:7620116
GRCh38:
Chr19:7555230
PNPLA6Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, Laurence-Moon syndrome, Ataxia-hypogonadism-choroidal dystrophy syndrome,
not specified, Hereditary spastic paraplegia 39
Benign
(Sep 26, 2022)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr19:7619760
GRCh38:
Chr19:7554874
PNPLA6Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, Laurence-Moon syndrome, Ataxia-hypogonadism-choroidal dystrophy syndrome,
not specified, Hereditary spastic paraplegia 39
Benign
(Sep 26, 2022)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr19:7626395
GRCh38:
Chr19:7561509
PNPLA6R1311W, R1359W, R1284W, R1349WAtaxia-hypogonadism-choroidal dystrophy syndrome, not provided, Hereditary spastic paraplegia 39,
PNPLA6-related disorders, Hypogonadotropic hypogonadism 7 with or without anosmia, Cerebellar ataxia,
Dysarthria, Cerebellar atrophy, Dysarthria,
Gait ataxia
Conflicting interpretations of pathogenicity
(Aug 1, 2023)
criteria provided, conflicting interpretations
28.
GRCh37:
Chr19:7607564
GRCh38:
Chr19:7542678
PNPLA6not specified, Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, Laurence-Moon syndrome,
Ataxia-hypogonadism-choroidal dystrophy syndrome, not provided, Hereditary spastic paraplegia 39
Benign
(Sep 26, 2022)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr19:7607441
GRCh38:
Chr19:7542555
PNPLA6Ataxia-hypogonadism-choroidal dystrophy syndrome, not specified, Trichomegaly-retina pigmentary degeneration-dwarfism syndrome,
Laurence-Moon syndrome, Hereditary spastic paraplegia 39
Benign
(Sep 26, 2022)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr19:7600855
GRCh38:
Chr19:7535969
MCOLN1, PNPLA6V22L, V61L, V70LLaurence-Moon syndrome, Hereditary spastic paraplegia 39, Ataxia-hypogonadism-choroidal dystrophy syndrome,
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, Spastic Paraplegia, Recessive, not provided,
not specified, Hereditary spastic paraplegia, Mucolipidosis type IV,
Hereditary spastic paraplegia 39
Benign/Likely benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr19:7621340
GRCh38:
Chr19:7556454
PNPLA6S994T, S1042T, S967T, S1032TLaurence-Moon syndrome, Hereditary spastic paraplegia 39, Ataxia-hypogonadism-choroidal dystrophy syndrome,
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, Inborn genetic diseases, Hereditary spastic paraplegia 39
Uncertain significance
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr19:7621596
GRCh38:
Chr19:7556710
PNPLA6R1099Q, R1051Q, R1024Q, R1089Qnot provided, Hereditary spastic paraplegia 39Conflicting interpretations of pathogenicity
(Jul 2, 2022)
criteria provided, conflicting interpretations
33.
GRCh37:
Chr19:7623747
GRCh38:
Chr19:7558861
PNPLA6R1099C, R1137C, R1147C, R1072CHereditary spastic paraplegia 39Uncertain significance
(Aug 24, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr19:7606940-7606941
GRCh38:
Chr19:7542054-7542055
PNPLA6D376fs, D415fs, D424fsAtaxia-hypogonadism-choroidal dystrophy syndromePathogenic
(Oct 1, 2014)
no assertion criteria provided
35.
GRCh37:
Chr19:7614889
GRCh38:
Chr19:7550003
PNPLA6G578W, G530W, G504W, G569WAtaxia-hypogonadism-choroidal dystrophy syndromePathogenic
(Jan 1, 2014)
no assertion criteria provided
36.
GRCh37:
Chr19:7621412
GRCh38:
Chr19:7556526
PNPLA6F1066S, F1018S, F1056S, F991SAtaxia-hypogonadism-choroidal dystrophy syndromePathogenic
(Jan 1, 2014)
no assertion criteria provided
37.
GRCh37:
Chr19:7622071
GRCh38:
Chr19:7557185
PNPLA6V1110M, V1062M, V1035M, V1100MTrichomegaly-retina pigmentary degeneration-dwarfism syndrome, Hereditary spastic paraplegia 39Conflicting interpretations of pathogenicity
(May 22, 2022)
criteria provided, conflicting interpretations
38.
GRCh37:
Chr19:7616247
GRCh38:
Chr19:7551361
PNPLA6Ataxia-hypogonadism-choroidal dystrophy syndromePathogenic
(Jan 1, 2014)
no assertion criteria provided
39.
GRCh37:
Chr19:7621388
GRCh38:
Chr19:7556502
PNPLA6T1058I, T1010I, T983I, T1048IHereditary spastic paraplegia 39Pathogenic
(Oct 16, 2021)
criteria provided, single submitter
40.
GRCh37:
Chr19:7620610-7620611
GRCh38:
Chr19:7555724-7555725
PNPLA6R1031fs, R1021fs, R956fs, R983fsPNPLA6-related disorders, Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, Hereditary spastic paraplegia 39,
Laurence-Moon syndrome, Ataxia-hypogonadism-choroidal dystrophy syndrome, Inborn genetic diseases,
Hereditary spastic paraplegia, not provided, Hereditary spastic paraplegia 39
Pathogenic
(Oct 13, 2022)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr19:7621393
GRCh38:
Chr19:7556507
PNPLA6M1012V, M1050V, M1060V, M985VHereditary spastic paraplegia 39Pathogenic
(Mar 1, 2008)
no assertion criteria provided
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