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Links from MedGen

Items: 1 to 100 of 1862

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr2:241679455-241818238
AGXT, KIF1AHereditary spastic paraplegia 30, Neuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9
Uncertain significance
(Nov 14, 2020)		criteria provided, single submitter
2.
GRCh37:
Chr2:241656781-241689984
KIF1AHereditary spastic paraplegia 30, Neuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9
Uncertain significance
(Aug 29, 2022)		criteria provided, single submitter
3.
GRCh37:
Chr2:241656761-241709143
KIF1AHereditary spastic paraplegia 30, Neuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9
Benign
(Nov 11, 2020)		criteria provided, single submitter
4.
GRCh37:
Chr2:241697835
GRCh38:
Chr2:240758418
KIF1AV833M, V842M, V858M, V867MNeuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9, Hereditary spastic paraplegia 30
Uncertain significance
(Oct 18, 2022)		criteria provided, single submitter
5.
GRCh37:
Chr2:241726703
GRCh38:
Chr2:240787286
KIF1AD132NHereditary spastic paraplegia 30, Neuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9
Uncertain significance
(May 17, 2022)		criteria provided, single submitter
6.
GRCh37:
Chr2:241679737
GRCh38:
Chr2:240740320
KIF1A, LOC126806583M1163T, M1164T, M1173T, M1189T, M1198T, M1248T, M1256T, M1265T, M1290TNeuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9, Hereditary spastic paraplegia 30
Likely benign
(Apr 30, 2022)		criteria provided, single submitter
7.
GRCh37:
Chr2:241658504
GRCh38:
Chr2:240719087
KIF1AD1609E, D1610E, D1618E, D1619E, D1627E, D1628E, D1635E, D1644E, D1648E, D1652E, D1653E, D1702E, D1703E, D1711E, D1736EIntellectual disability, autosomal dominant 9, Neuropathy, hereditary sensory, type 2C, Hereditary spastic paraplegia 30,
KIF1A-related condition		Uncertain significance
(Apr 28, 2023)		criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr2:241684894
GRCh38:
Chr2:240745477
KIF1AL1037V, L1038V, L1047V, L1063V, L1072V, L1122V, L1130V, L1139V, L1164VNeuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9, Hereditary spastic paraplegia 30
Uncertain significance
(Dec 23, 2021)		criteria provided, single submitter
9.
GRCh37:
Chr2:241676581
GRCh38:
Chr2:240737164
KIF1AHereditary spastic paraplegia 30, Intellectual disability, autosomal dominant 9, Neuropathy, hereditary sensory, type 2C
Likely benign
(Jan 16, 2022)		criteria provided, single submitter
10.
GRCh37:
Chr2:241689867
GRCh38:
Chr2:240750450
KIF1AV1011M, V885M, V894M, V910M, V919M, V969M, V977M, V986MNeuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9, Hereditary spastic paraplegia 30
Uncertain significance
(Jun 9, 2022)		criteria provided, single submitter
11.
GRCh37:
Chr2:241659289
GRCh38:
Chr2:240719872
KIF1ANeuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9, Hereditary spastic paraplegia 30
Likely benign
(Sep 1, 2022)		criteria provided, single submitter
12.
GRCh37:
Chr2:241685254
GRCh38:
Chr2:240745837
KIF1AL1000P, L1016P, L1025P, L1075P, L1083P, L1092P, L1117P, L990P, L991PHereditary spastic paraplegia 30, Neuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9
Likely benign
(Sep 12, 2022)		criteria provided, single submitter
13.
GRCh37:
Chr2:241660351
GRCh38:
Chr2:240720934
KIF1AHereditary spastic paraplegia 30, Neuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9
Likely benign
(Jul 27, 2022)		criteria provided, single submitter
14.
GRCh37:
Chr2:241724523
GRCh38:
Chr2:240785106
KIF1AHereditary spastic paraplegia 30, Neuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9
Likely benign
(Jul 25, 2022)		criteria provided, single submitter
15.
GRCh37:
Chr2:241680760
GRCh38:
Chr2:240741343
KIF1AHereditary spastic paraplegia 30, Neuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9
Likely benign
(Jan 4, 2022)		criteria provided, single submitter
16.
GRCh37:
Chr2:241657525
GRCh38:
Chr2:240718108
KIF1AD1675H, D1700H, D1784H, D1657H, D1667H, D1750H, D1646H, D1666H, D1683H, D1696H, D1751H, D1658H, D1676H, D1692H, D1701H, D1759HHereditary spastic paraplegia 30, Neuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9
Likely benign
(Aug 30, 2022)		criteria provided, single submitter
17.
GRCh37:
Chr2:241697866
GRCh38:
Chr2:240758449
KIF1AHereditary spastic paraplegia 30, Neuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9
Likely benign
(Dec 17, 2021)		criteria provided, single submitter
18.
GRCh37:
Chr2:241660363
GRCh38:
Chr2:240720946
KIF1AHereditary spastic paraplegia 30, Neuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9
Uncertain significance
(Mar 14, 2022)		criteria provided, single submitter
19.
GRCh37:
Chr2:241706313
GRCh38:
Chr2:240766896
KIF1AHereditary spastic paraplegia 30, Neuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9
Likely benign
(Jan 11, 2022)		criteria provided, single submitter
20.
GRCh37:
Chr2:241727650-241727652
GRCh38:
Chr2:240788233-240788235
KIF1AHereditary spastic paraplegia 30, Neuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9
Likely benign
(May 17, 2022)		criteria provided, single submitter
21.
GRCh37:
Chr2:241700159
GRCh38:
Chr2:240760742
KIF1AHereditary spastic paraplegia 30, Neuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9
Likely benign
(Oct 7, 2022)		criteria provided, single submitter
22.
GRCh37:
Chr2:241723192
GRCh38:
Chr2:240783775
KIF1AHereditary spastic paraplegia 30, Neuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9
Likely benign
(Jul 12, 2022)		criteria provided, single submitter
23.
GRCh37:
Chr2:241726744
GRCh38:
Chr2:240787327
KIF1AHereditary spastic paraplegia 30, Neuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9
Likely benign
(Aug 14, 2022)		criteria provided, single submitter
24.
GRCh37:
Chr2:241726743-241726744
GRCh38:
Chr2:240787326-240787327
KIF1AHereditary spastic paraplegia 30, Neuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9
Benign
(Aug 12, 2022)		criteria provided, single submitter
25.
GRCh37:
Chr2:241728637
GRCh38:
Chr2:240789220
KIF1AHereditary spastic paraplegia 30, Neuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9
Likely benign
(Sep 21, 2022)		criteria provided, single submitter
26.
GRCh37:
Chr2:241658584
GRCh38:
Chr2:240719167
KIF1AF1593L, F1627L, F1710L, F1583L, F1584L, F1676L, F1677L, F1592L, F1601L, F1609L, F1618L, F1626L, F1602L, F1622L, F1685LHereditary spastic paraplegia 30, Neuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9
Likely benign
(Oct 8, 2022)		criteria provided, single submitter
27.
GRCh37:
Chr2:241660469
GRCh38:
Chr2:240721052
KIF1AHereditary spastic paraplegia 30, Neuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9
Likely benign
(May 15, 2022)		criteria provided, single submitter
28.
GRCh37:
Chr2:241715348
GRCh38:
Chr2:240775931
KIF1AHereditary spastic paraplegia 30, Neuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9
Likely benign
(Jun 10, 2022)		criteria provided, single submitter
29.
GRCh37:
Chr2:241702735
GRCh38:
Chr2:240763318
KIF1ANeuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9, Hereditary spastic paraplegia 30
Likely benign
(Oct 6, 2022)		criteria provided, single submitter
30.
GRCh37:
Chr2:241710495
GRCh38:
Chr2:240771078
KIF1AP412A, P403A, P437A, P428ANeuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9, Hereditary spastic paraplegia 30
Uncertain significance
(Oct 26, 2022)		criteria provided, single submitter
31.
GRCh37:
Chr2:241726661
GRCh38:
Chr2:240787244
KIF1ANeuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9, Hereditary spastic paraplegia 30
Likely benign
(Sep 3, 2022)		criteria provided, single submitter
32.
GRCh37:
Chr2:241723138-241723139
GRCh38:
Chr2:240783721-240783722
KIF1ANeuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9, Hereditary spastic paraplegia 30
Likely benign
(Dec 28, 2021)		criteria provided, single submitter
33.
GRCh37:
Chr2:241706760
GRCh38:
Chr2:240767343
KIF1ANeuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9, Hereditary spastic paraplegia 30
Likely benign
(Sep 23, 2022)		criteria provided, single submitter
34.
GRCh37:
Chr2:241689957
GRCh38:
Chr2:240750540
KIF1AV889M, V939M, V864M, V855M, V956M, V880M, V947M, V981MNeuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9, Hereditary spastic paraplegia 30
Uncertain significance
(Oct 2, 2022)		criteria provided, single submitter
35.
GRCh37:
Chr2:241710439
GRCh38:
Chr2:240771022
KIF1AH421Q, H430Q, H455Q, H446QNeuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9, Hereditary spastic paraplegia 30
Uncertain significance
(Jan 23, 2022)		criteria provided, single submitter
36.
GRCh37:
Chr2:241697829
GRCh38:
Chr2:240758412
KIF1AT835A, T844A, T860A, T869ANeuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9, Hereditary spastic paraplegia 30
Uncertain significance
(Jul 3, 2022)		criteria provided, single submitter
37.
GRCh37:
Chr2:241702118
GRCh38:
Chr2:240762701
KIF1ANeuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9, Hereditary spastic paraplegia 30
Likely benign
(Oct 3, 2022)		criteria provided, single submitter
38.
GRCh37:
Chr2:241683366
GRCh38:
Chr2:240743949
KIF1AV1184L, V1091L, V1126L, V1176L, V1092L, V1101L, V1117L, V1218L, V1193LNeuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9, Hereditary spastic paraplegia 30
Uncertain significance
(Apr 11, 2022)		criteria provided, single submitter
39.
GRCh37:
Chr2:241661876
GRCh38:
Chr2:240722459
KIF1ANeuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9, Hereditary spastic paraplegia 30
Likely benign
(Feb 20, 2022)		criteria provided, single submitter
40.
GRCh37:
Chr2:241702768
GRCh38:
Chr2:240763351
KIF1ANeuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9, Hereditary spastic paraplegia 30
Likely benign
(Feb 22, 2022)		criteria provided, single submitter
41.
GRCh37:
Chr2:241715353
GRCh38:
Chr2:240775936
KIF1ANeuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9, Hereditary spastic paraplegia 30
Likely benign
(Aug 16, 2022)		criteria provided, single submitter
42.
GRCh37:
Chr2:241662902
GRCh38:
Chr2:240723485
KIF1ANeuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9, Hereditary spastic paraplegia 30
Likely benign
(Jun 22, 2022)		criteria provided, single submitter
43.
GRCh37:
Chr2:241702687
GRCh38:
Chr2:240763270
KIF1ANeuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9, Hereditary spastic paraplegia 30
Likely benign
(Aug 9, 2022)		criteria provided, single submitter
44.
GRCh37:
Chr2:241658489
GRCh38:
Chr2:240719072
KIF1ANeuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9, Hereditary spastic paraplegia 30
Uncertain significance
(Oct 1, 2022)		criteria provided, single submitter
45.
GRCh37:
Chr2:241664696
GRCh38:
Chr2:240725279
KIF1ANeuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9, Hereditary spastic paraplegia 30
Likely benign
(May 7, 2022)		criteria provided, single submitter
46.
GRCh37:
Chr2:241684954
GRCh38:
Chr2:240745537
KIF1ANeuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9, Hereditary spastic paraplegia 30
Likely benign
(Feb 19, 2022)		criteria provided, single submitter
47.
GRCh37:
Chr2:241713582
GRCh38:
Chr2:240774165
KIF1ANeuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9, Hereditary spastic paraplegia 30
Likely benign
(Apr 28, 2022)		criteria provided, single submitter
48.
GRCh37:
Chr2:241725828
GRCh38:
Chr2:240786411
KIF1AV178MNeuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9, Hereditary spastic paraplegia 30
Uncertain significance
(Mar 23, 2022)		criteria provided, single submitter
49.
GRCh37:
Chr2:241664799
GRCh38:
Chr2:240725382
KIF1AA1374V, A1281V, A1289V, A1299V, A1407V, A1298V, A1319V, A1373V, A1280V, A1290V, A1306V, A1315V, A1323V, A1324V, A1382VNeuropathy, hereditary sensory, type 2C, Hereditary spastic paraplegia 30, Intellectual disability, autosomal dominant 9
Uncertain significance
(Aug 22, 2022)		criteria provided, single submitter
50.
GRCh37:
Chr2:241712688
GRCh38:
Chr2:240773271
KIF1ANeuropathy, hereditary sensory, type 2C, Hereditary spastic paraplegia 30, Intellectual disability, autosomal dominant 9
Likely benign
(Apr 10, 2022)		criteria provided, single submitter
51.
GRCh37:
Chr2:241700272
GRCh38:
Chr2:240760855
KIF1ANeuropathy, hereditary sensory, type 2C, Hereditary spastic paraplegia 30, Intellectual disability, autosomal dominant 9
Likely benign
(Apr 16, 2022)		criteria provided, single submitter
52.
GRCh37:
Chr2:241712557
GRCh38:
Chr2:240773140
KIF1AA385VNeuropathy, hereditary sensory, type 2C, Hereditary spastic paraplegia 30, Intellectual disability, autosomal dominant 9
Uncertain significance
(May 12, 2022)		criteria provided, single submitter
53.
GRCh37:
Chr2:241723142
GRCh38:
Chr2:240783725
KIF1ANeuropathy, hereditary sensory, type 2C, Hereditary spastic paraplegia 30, Intellectual disability, autosomal dominant 9
Likely benign
(Sep 17, 2022)		criteria provided, single submitter
54.
GRCh37:
Chr2:241679801
GRCh38:
Chr2:240740384
KIF1A, LOC126806583Neuropathy, hereditary sensory, type 2C, Hereditary spastic paraplegia 30, Intellectual disability, autosomal dominant 9
Likely benign
(Sep 30, 2022)		criteria provided, single submitter
55.
GRCh37:
Chr2:241709095
GRCh38:
Chr2:240769678
KIF1AN482S, N448S, N457S, N473SNeuropathy, hereditary sensory, type 2C, Hereditary spastic paraplegia 30, Intellectual disability, autosomal dominant 9
Uncertain significance
(Jun 12, 2022)		criteria provided, single submitter
56.
GRCh37:
Chr2:241710517
GRCh38:
Chr2:240771100
KIF1ANeuropathy, hereditary sensory, type 2C, Hereditary spastic paraplegia 30, Intellectual disability, autosomal dominant 9
Likely benign
(Sep 1, 2022)		criteria provided, single submitter
57.
GRCh37:
Chr2:241706453
GRCh38:
Chr2:240767036
KIF1ANeuropathy, hereditary sensory, type 2C, Hereditary spastic paraplegia 30, Intellectual disability, autosomal dominant 9
Likely benign
(Jul 17, 2022)		criteria provided, single submitter
58.
GRCh37:
Chr2:241659237
GRCh38:
Chr2:240719820
KIF1AE1557Q, E1566Q, E1596Q, E1651Q, E1567Q, E1684Q, E1558Q, E1576Q, E1592Q, E1659Q, E1575Q, E1583Q, E1600Q, E1601Q, E1650QNeuropathy, hereditary sensory, type 2C, Hereditary spastic paraplegia 30, Intellectual disability, autosomal dominant 9
Uncertain significance
(Jul 7, 2022)		criteria provided, single submitter
59.
GRCh37:
Chr2:241685450
GRCh38:
Chr2:240746033
KIF1ANeuropathy, hereditary sensory, type 2C, Hereditary spastic paraplegia 30, Intellectual disability, autosomal dominant 9
Uncertain significance
(Oct 23, 2022)		criteria provided, single submitter
60.
GRCh37:
Chr2:241685603
GRCh38:
Chr2:240746186
KIF1ANeuropathy, hereditary sensory, type 2C, Hereditary spastic paraplegia 30, Intellectual disability, autosomal dominant 9
Likely benign
(May 31, 2022)		criteria provided, single submitter
61.
GRCh37:
Chr2:241728698
GRCh38:
Chr2:240789281
KIF1ANeuropathy, hereditary sensory, type 2C, Hereditary spastic paraplegia 30, Intellectual disability, autosomal dominant 9
Likely benign
(Feb 23, 2022)		criteria provided, single submitter
62.
GRCh37:
Chr2:241726652
GRCh38:
Chr2:240787235
KIF1ANeuropathy, hereditary sensory, type 2C, Hereditary spastic paraplegia 30, Intellectual disability, autosomal dominant 9
Likely benign
(Mar 20, 2022)		criteria provided, single submitter
63.
GRCh37:
Chr2:241657531
GRCh38:
Chr2:240718114
KIF1AA1655S, A1664S, A1665S, A1681S, A1698S, A1749S, A1757S, A1644S, A1674S, A1694S, A1699S, A1782S, A1690S, A1748S, A1656S, A1673SNeuropathy, hereditary sensory, type 2C, Hereditary spastic paraplegia 30, Intellectual disability, autosomal dominant 9
Uncertain significance
(Nov 1, 2022)		criteria provided, single submitter
64.
GRCh37:
Chr2:241659235
GRCh38:
Chr2:240719818
KIF1ANeuropathy, hereditary sensory, type 2C, Hereditary spastic paraplegia 30, Intellectual disability, autosomal dominant 9
Likely benign
(Apr 25, 2022)		criteria provided, single submitter
65.
GRCh37:
Chr2:241708613
GRCh38:
Chr2:240769196
KIF1ANeuropathy, hereditary sensory, type 2C, Hereditary spastic paraplegia 30, Intellectual disability, autosomal dominant 9
Likely benign
(May 9, 2022)		criteria provided, single submitter
66.
GRCh37:
Chr2:241700755
GRCh38:
Chr2:240761338
KIF1AA710V, A719V, A744V, A735VNeuropathy, hereditary sensory, type 2C, Hereditary spastic paraplegia 30, Intellectual disability, autosomal dominant 9
Likely benign
(Aug 31, 2022)		criteria provided, single submitter
67.
GRCh37:
Chr2:241661960
GRCh38:
Chr2:240722543
KIF1ANeuropathy, hereditary sensory, type 2C, Hereditary spastic paraplegia 30, Intellectual disability, autosomal dominant 9
Likely benign
(Jun 17, 2022)		criteria provided, single submitter
68.
GRCh37:
Chr2:241724422
GRCh38:
Chr2:240785005
KIF1AN235SNeuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9, Hereditary spastic paraplegia 30,
KIF1A-related condition		Uncertain significance
(Jul 26, 2023)		criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr2:241705222
GRCh38:
Chr2:240765805
KIF1ANeuropathy, hereditary sensory, type 2C, Hereditary spastic paraplegia 30, Intellectual disability, autosomal dominant 9
Likely benign
(Aug 31, 2022)		criteria provided, single submitter
70.
GRCh37:
Chr2:241708565
GRCh38:
Chr2:240769148
KIF1ANeuropathy, hereditary sensory, type 2C, Hereditary spastic paraplegia 30, Intellectual disability, autosomal dominant 9
Likely benign
(Jul 23, 2022)		criteria provided, single submitter
71.
GRCh37:
Chr2:241700102
GRCh38:
Chr2:240760685
KIF1ANeuropathy, hereditary sensory, type 2C, Hereditary spastic paraplegia 30, Intellectual disability, autosomal dominant 9
Likely benign
(Aug 22, 2022)		criteria provided, single submitter
72.
GRCh37:
Chr2:241725934
GRCh38:
Chr2:240786517
KIF1ANeuropathy, hereditary sensory, type 2C, Hereditary spastic paraplegia 30, Intellectual disability, autosomal dominant 9
Likely benign
(Jul 15, 2022)		criteria provided, single submitter
73.
GRCh37:
Chr2:241702193
GRCh38:
Chr2:240762776
KIF1AM703V, M678V, M687V, M712VNeuropathy, hereditary sensory, type 2C, Hereditary spastic paraplegia 30, Intellectual disability, autosomal dominant 9
Uncertain significance
(Jun 26, 2022)		criteria provided, single submitter
74.
GRCh37:
Chr2:241724532
GRCh38:
Chr2:240785115
KIF1ANeuropathy, hereditary sensory, type 2C, Hereditary spastic paraplegia 30, Intellectual disability, autosomal dominant 9
Likely benign
(Oct 31, 2022)		criteria provided, single submitter
75.
GRCh37:
Chr2:241660402
GRCh38:
Chr2:240720985
KIF1ANeuropathy, hereditary sensory, type 2C, Hereditary spastic paraplegia 30, Intellectual disability, autosomal dominant 9
Likely benign
(Feb 8, 2022)		criteria provided, single submitter
76.
GRCh37:
Chr2:241661932
GRCh38:
Chr2:240722515
KIF1AE1435K, E1528K, E1561K, E1434K, E1469K, E1478K, E1444K, E1453K, E1473K, E1477K, E1536K, E1443K, E1452K, E1460K, E1527KNeuropathy, hereditary sensory, type 2C, Hereditary spastic paraplegia 30, Intellectual disability, autosomal dominant 9
Uncertain significance
(Mar 26, 2022)		criteria provided, single submitter
77.
GRCh37:
Chr2:241702783
GRCh38:
Chr2:240763366
KIF1ANeuropathy, hereditary sensory, type 2C, Hereditary spastic paraplegia 30, Intellectual disability, autosomal dominant 9
Likely benign
(Jul 9, 2022)		criteria provided, single submitter
78.
GRCh37:
Chr2:241666231
GRCh38:
Chr2:240726814
KIF1ANeuropathy, hereditary sensory, type 2C, Hereditary spastic paraplegia 30, Intellectual disability, autosomal dominant 9
Likely benign
(Aug 12, 2022)		criteria provided, single submitter
79.
GRCh37:
Chr2:241658623
GRCh38:
Chr2:240719206
KIF1ANeuropathy, hereditary sensory, type 2C, Hereditary spastic paraplegia 30, Intellectual disability, autosomal dominant 9
Likely benign
(Jan 12, 2022)		criteria provided, single submitter
80.
GRCh37:
Chr2:241660434
GRCh38:
Chr2:240721017
KIF1AL1496V, L1506V, L1581V, L1487V, L1526V, L1530V, L1580V, L1614V, L1488V, L1513V, L1531V, L1589V, L1497V, L1505V, L1522VNeuropathy, hereditary sensory, type 2C, Hereditary spastic paraplegia 30, Intellectual disability, autosomal dominant 9
Uncertain significance
(Aug 30, 2022)		criteria provided, single submitter
81.
GRCh37:
Chr2:241661889
GRCh38:
Chr2:240722472
KIF1AR1448L, R1449L, R1466L, R1474L, R1487L, R1575L, R1457L, R1467L, R1483L, R1542L, R1550L, R1458L, R1491L, R1492L, R1541LNeuropathy, hereditary sensory, type 2C, Hereditary spastic paraplegia 30, Intellectual disability, autosomal dominant 9
Uncertain significance
(Jul 23, 2022)		criteria provided, single submitter
82.
GRCh37:
Chr2:241659270
GRCh38:
Chr2:240719853
KIF1AP1555S, P1585S, P1589S, P1673S, P1546S, P1565S, P1572S, P1590S, P1640S, P1547S, P1556S, P1564S, P1581S, P1639S, P1648SNeuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9, Hereditary spastic paraplegia 30
Uncertain significance
(Jun 16, 2022)		criteria provided, single submitter
83.
GRCh37:
Chr2:241683383
GRCh38:
Chr2:240743966
KIF1AP1085L, P1086L, P1095L, P1170L, P1187L, P1212L, P1120L, P1111L, P1178LNeuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9, Hereditary spastic paraplegia 30
Likely benign
(Oct 14, 2022)		criteria provided, single submitter
84.
GRCh37:
Chr2:241657498
GRCh38:
Chr2:240718081
KIF1AA1676T, A1685T, A1701T, A1793T, A1655T, A1684T, A1710T, A1759T, A1667T, A1675T, A1760T, A1666T, A1692T, A1705T, A1709T, A1768TNeuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9, Hereditary spastic paraplegia 30
Likely benign
(Oct 22, 2022)		criteria provided, single submitter
85.
GRCh37:
Chr2:241702675
GRCh38:
Chr2:240763258
KIF1ANeuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9, Hereditary spastic paraplegia 30
Likely benign
(Oct 7, 2022)		criteria provided, single submitter
86.
GRCh37:
Chr2:241664812
GRCh38:
Chr2:240725395
KIF1AC1294G, C1302G, C1369G, C1277G, C1286G, C1295G, C1319G, C1370G, C1378G, C1403G, C1276G, C1285G, C1315G, C1320G, C1311GNeuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9, Hereditary spastic paraplegia 30
Uncertain significance
(May 22, 2022)		criteria provided, single submitter
87.
GRCh37:
Chr2:241685441
GRCh38:
Chr2:240746024
KIF1ANeuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9, Hereditary spastic paraplegia 30
Likely benign
(Jun 14, 2022)		criteria provided, single submitter
88.
GRCh37:
Chr2:241676605
GRCh38:
Chr2:240737188
KIF1ANeuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9, Hereditary spastic paraplegia 30
Likely benign
(Sep 12, 2022)		criteria provided, single submitter
89.
GRCh37:
Chr2:241726658
GRCh38:
Chr2:240787241
KIF1ANeuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9, Hereditary spastic paraplegia 30
Likely benign
(Sep 15, 2020)		criteria provided, single submitter
90.
GRCh37:
Chr2:241725871
GRCh38:
Chr2:240786454
KIF1ANeuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9, Hereditary spastic paraplegia 30
Likely benign
(Jul 19, 2022)		criteria provided, single submitter
91.
GRCh37:
Chr2:241726749
GRCh38:
Chr2:240787332
KIF1ANeuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9, Hereditary spastic paraplegia 30
Likely benign
(Oct 2, 2022)		criteria provided, single submitter
92.
GRCh37:
Chr2:241662966
GRCh38:
Chr2:240723549
KIF1AR1341H, R1380H, R1434H, R1435H, R1342H, R1360H, R1367H, R1384H, R1385H, R1443H, R1350H, R1359H, R1376H, R1468H, R1351HNeuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9, Hereditary spastic paraplegia 30
Uncertain significance
(Oct 8, 2022)		criteria provided, single submitter
93.
GRCh37:
Chr2:241712558
GRCh38:
Chr2:240773141
KIF1AA385TNeuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9, Hereditary spastic paraplegia 30
Uncertain significance
(Sep 27, 2022)		criteria provided, single submitter
94.
GRCh37:
Chr2:241702704
GRCh38:
Chr2:240763287
KIF1AR601W, R610W, R635W, R626WNeuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9, Hereditary spastic paraplegia 30
Uncertain significance
(May 5, 2022)		criteria provided, single submitter
95.
GRCh37:
Chr2:241658578
GRCh38:
Chr2:240719161
KIF1AE1585K, E1595K, E1679K, E1712K, E1594K, E1603K, E1611K, E1620K, E1678K, E1624K, E1628K, E1586K, E1604K, E1629K, E1687KNeuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9, Hereditary spastic paraplegia 30
Uncertain significance
(Feb 17, 2022)		criteria provided, single submitter
96.
GRCh37:
Chr2:241726752
GRCh38:
Chr2:240787335
KIF1ANeuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9, Hereditary spastic paraplegia 30
Likely benign
(Jun 5, 2022)		criteria provided, single submitter
97.
GRCh37:
Chr2:241662073
GRCh38:
Chr2:240722656
KIF1AV1396L, V1405L, V1413L, V1430L, V1406L, V1431L, V1480L, V1489L, V1387L, V1426L, V1388L, V1397L, V1422L, V1481L, V1514LNeuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9, Hereditary spastic paraplegia 30
Uncertain significance
(Aug 24, 2022)		criteria provided, single submitter
98.
GRCh37:
Chr2:241679460
GRCh38:
Chr2:240740043
KIF1A, LOC126806583Neuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9, Hereditary spastic paraplegia 30
Likely benign
(Mar 21, 2022)		criteria provided, single submitter
99.
GRCh37:
Chr2:241700197
GRCh38:
Chr2:240760780
KIF1AP793S, P768S, P802S, P777SNeuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9, Hereditary spastic paraplegia 30
Uncertain significance
(Feb 1, 2022)		criteria provided, single submitter
100.
GRCh37:
Chr2:241661295
GRCh38:
Chr2:240721878
KIF1AR1482C, R1500C, R1456C, R1466C, R1475C, R1549C, R1558C, R1465C, R1491C, R1499C, R1457C, R1474C, R1495C, R1550C, R1583CHereditary spastic paraplegia 30, Neuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9,
not provided		Uncertain significance
(Oct 30, 2022)		criteria provided, multiple submitters, no conflicts
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