1 |
KIF1C
|
NM_006612.5(KIF1C): c.2191C> T (p.Arg731Ter)
|
single nucleotide variant |
Pathogenic |
rs587777197
|
GRCh37 |
Chromosome 17, 4925567: 4925567 |
2 |
KIF1C
|
NM_006612.5(KIF1C): c.2191C> T (p.Arg731Ter)
|
single nucleotide variant |
Pathogenic |
rs587777197
|
GRCh38 |
Chromosome 17, 5022272: 5022272 |
3 |
KIF1C
|
NM_006612.5(KIF1C): c.505C> T (p.Arg169Trp)
|
single nucleotide variant |
Pathogenic |
rs587777198
|
GRCh37 |
Chromosome 17, 4905834: 4905834 |
4 |
KIF1C
|
NM_006612.5(KIF1C): c.505C> T (p.Arg169Trp)
|
single nucleotide variant |
Pathogenic |
rs587777198
|
GRCh38 |
Chromosome 17, 5002539: 5002539 |
5 |
KIF1C
|
NM_006612.5(KIF1C): c.183G> A (p.Ser61=)
|
single nucleotide variant |
Pathogenic |
rs886041035
|
GRCh38 |
Chromosome 17, 5000848: 5000848 |
6 |
KIF1C
|
NM_006612.5(KIF1C): c.183G> A (p.Ser61=)
|
single nucleotide variant |
Pathogenic |
rs886041035
|
GRCh37 |
Chromosome 17, 4904143: 4904143 |
7 |
KIF1C
|
NC_000017.10
|
deletion |
Pathogenic |
|
GRCh37 |
Chromosome 17, 4907452: 4926045 |
8 |
KIF1C
|
NM_006612.5(KIF1C): c.2099C> T (p.Pro700Leu)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs148934699
|
GRCh37 |
Chromosome 17, 4925475: 4925475 |
9 |
KIF1C
|
NM_006612.5(KIF1C): c.2099C> T (p.Pro700Leu)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs148934699
|
GRCh38 |
Chromosome 17, 5022180: 5022180 |
10 |
KIF1C
|
NM_006612.5(KIF1C): c.2734C> T (p.Arg912Trp)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs202232792
|
GRCh37 |
Chromosome 17, 4926868: 4926868 |
11 |
KIF1C
|
NM_006612.5(KIF1C): c.2734C> T (p.Arg912Trp)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs202232792
|
GRCh38 |
Chromosome 17, 5023573: 5023573 |
12 |
KIF1C
|
NM_006612.5(KIF1C): c.2478delA (p.Ala828Argfs)
|
deletion |
Pathogenic |
rs1131690773
|
GRCh38 |
Chromosome 17, 5022559: 5022559 |
13 |
KIF1C
|
NM_006612.5(KIF1C): c.2478delA (p.Ala828Argfs)
|
deletion |
Pathogenic |
rs1131690773
|
GRCh37 |
Chromosome 17, 4925854: 4925854 |
14 |
KIF1C
|
NM_006612.5(KIF1C): c.1293G> A (p.Thr431=)
|
single nucleotide variant |
Benign |
rs35919356
|
GRCh37 |
Chromosome 17, 4910337: 4910337 |
15 |
KIF1C
|
NM_006612.5(KIF1C): c.1293G> A (p.Thr431=)
|
single nucleotide variant |
Benign |
rs35919356
|
GRCh38 |
Chromosome 17, 5007042: 5007042 |
16 |
KIF1C
|
NM_006612.5(KIF1C): c.2298C> T (p.His766=)
|
single nucleotide variant |
Benign |
rs73345356
|
GRCh37 |
Chromosome 17, 4925674: 4925674 |
17 |
KIF1C
|
NM_006612.5(KIF1C): c.2298C> T (p.His766=)
|
single nucleotide variant |
Benign |
rs73345356
|
GRCh38 |
Chromosome 17, 5022379: 5022379 |
18 |
KIF1C
|
NM_006612.5(KIF1C): c.1656A> G (p.Pro552=)
|
single nucleotide variant |
Benign |
rs57144955
|
GRCh37 |
Chromosome 17, 4918122: 4918122 |
19 |
KIF1C
|
NM_006612.5(KIF1C): c.1656A> G (p.Pro552=)
|
single nucleotide variant |
Benign |
rs57144955
|
GRCh38 |
Chromosome 17, 5014827: 5014827 |
20 |
KIF1C
|
NM_006612.5(KIF1C): c.2105C> T (p.Thr702Ile)
|
single nucleotide variant |
Benign/Likely benign |
rs138935423
|
GRCh37 |
Chromosome 17, 4925481: 4925481 |
21 |
KIF1C
|
NM_006612.5(KIF1C): c.2105C> T (p.Thr702Ile)
|
single nucleotide variant |
Benign/Likely benign |
rs138935423
|
GRCh38 |
Chromosome 17, 5022186: 5022186 |
22 |
KIF1C
|
NM_006612.5(KIF1C): c.3071G> A (p.Arg1024Gln)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs141225452
|
GRCh37 |
Chromosome 17, 4927205: 4927205 |
23 |
KIF1C
|
NM_006612.5(KIF1C): c.3071G> A (p.Arg1024Gln)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs141225452
|
GRCh38 |
Chromosome 17, 5023910: 5023910 |
24 |
KIF1C
|
NM_006612.5(KIF1C): c.1751-7T> A
|
single nucleotide variant |
Benign |
rs148404628
|
GRCh37 |
Chromosome 17, 4923780: 4923780 |
25 |
KIF1C
|
NM_006612.5(KIF1C): c.1751-7T> A
|
single nucleotide variant |
Benign |
rs148404628
|
GRCh38 |
Chromosome 17, 5020485: 5020485 |
26 |
KIF1C
|
NM_006612.5(KIF1C): c.1815G> A (p.Leu605=)
|
single nucleotide variant |
Benign/Likely benign |
rs78356534
|
GRCh37 |
Chromosome 17, 4923851: 4923851 |
27 |
KIF1C
|
NM_006612.5(KIF1C): c.1815G> A (p.Leu605=)
|
single nucleotide variant |
Benign/Likely benign |
rs78356534
|
GRCh38 |
Chromosome 17, 5020556: 5020556 |
28 |
KIF1C
|
NM_006612.5(KIF1C): c.2726C> A (p.Pro909Gln)
|
single nucleotide variant |
Benign |
rs78970955
|
GRCh37 |
Chromosome 17, 4926860: 4926860 |
29 |
KIF1C
|
NM_006612.5(KIF1C): c.2726C> A (p.Pro909Gln)
|
single nucleotide variant |
Benign |
rs78970955
|
GRCh38 |
Chromosome 17, 5023565: 5023565 |
30 |
KIF1C
|
NM_006612.5(KIF1C): c.1111G> A (p.Ala371Thr)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs142056835
|
GRCh37 |
Chromosome 17, 4908241: 4908241 |
31 |
KIF1C
|
NM_006612.5(KIF1C): c.1111G> A (p.Ala371Thr)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs142056835
|
GRCh38 |
Chromosome 17, 5004946: 5004946 |
32 |
KIF1C
|
NM_006612.5(KIF1C): c.2299G> A (p.Gly767Arg)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs118037269
|
GRCh38 |
Chromosome 17, 5022380: 5022380 |
33 |
KIF1C
|
NM_006612.5(KIF1C): c.2299G> A (p.Gly767Arg)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs118037269
|
GRCh37 |
Chromosome 17, 4925675: 4925675 |
34 |
KIF1C
|
NM_006612.5(KIF1C): c.866A> C (p.Gln289Pro)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs146872023
|
GRCh37 |
Chromosome 17, 4907294: 4907294 |
35 |
KIF1C
|
NM_006612.5(KIF1C): c.866A> C (p.Gln289Pro)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs146872023
|
GRCh38 |
Chromosome 17, 5003999: 5003999 |
36 |
KIF1C
|
NM_006612.5(KIF1C): c.1165+4G> A
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs192489748
|
GRCh37 |
Chromosome 17, 4908299: 4908299 |
37 |
KIF1C
|
NM_006612.5(KIF1C): c.1165+4G> A
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs192489748
|
GRCh38 |
Chromosome 17, 5005004: 5005004 |
38 |
KIF1C
|
NM_006612.5(KIF1C): c.720+20dup
|
duplication |
Benign |
|
GRCh37 |
Chromosome 17, 4906157: 4906157 |
39 |
KIF1C
|
NM_006612.5(KIF1C): c.720+20dup
|
duplication |
Benign |
|
GRCh38 |
Chromosome 17, 5002862: 5002862 |
40 |
KIF1C
|
NM_006612.5(KIF1C): c.2523G> C (p.Thr841=)
|
single nucleotide variant |
Likely benign |
rs747321053
|
GRCh37 |
Chromosome 17, 4925899: 4925899 |
41 |
KIF1C
|
NM_006612.5(KIF1C): c.2523G> C (p.Thr841=)
|
single nucleotide variant |
Likely benign |
rs747321053
|
GRCh38 |
Chromosome 17, 5022604: 5022604 |
42 |
KIF1C
|
NM_006612.5(KIF1C): c.1136C> G (p.Ala379Gly)
|
single nucleotide variant |
Likely benign |
rs79290524
|
GRCh38 |
Chromosome 17, 5004971: 5004971 |
43 |
KIF1C
|
NM_006612.5(KIF1C): c.1136C> G (p.Ala379Gly)
|
single nucleotide variant |
Likely benign |
rs79290524
|
GRCh37 |
Chromosome 17, 4908266: 4908266 |
44 |
KIF1C
|
NM_006612.5(KIF1C): c.2711C> G (p.Pro904Arg)
|
single nucleotide variant |
Uncertain significance |
|
GRCh38 |
Chromosome 17, 5023550: 5023550 |
45 |
KIF1C
|
NM_006612.5(KIF1C): c.2711C> G (p.Pro904Arg)
|
single nucleotide variant |
Uncertain significance |
|
GRCh37 |
Chromosome 17, 4926845: 4926845 |
46 |
KIF1C
|
NM_006612.5(KIF1C): c.2748_2749delACinsGA (p.Pro917Thr)
|
indel |
Uncertain significance |
|
GRCh37 |
Chromosome 17, 4926882: 4926883 |
47 |
KIF1C
|
NM_006612.5(KIF1C): c.2748_2749delACinsGA (p.Pro917Thr)
|
indel |
Uncertain significance |
|
GRCh38 |
Chromosome 17, 5023587: 5023588 |
48 |
KIF1C
|
NM_006612.5(KIF1C): c.2987G> A (p.Ser996Asn)
|
single nucleotide variant |
Benign |
rs115332491
|
GRCh37 |
Chromosome 17, 4927121: 4927121 |
49 |
KIF1C
|
NM_006612.5(KIF1C): c.2987G> A (p.Ser996Asn)
|
single nucleotide variant |
Benign |
rs115332491
|
GRCh38 |
Chromosome 17, 5023826: 5023826 |
50 |
KIF1C
|
NM_006612.5(KIF1C): c.18G> A (p.Val6=)
|
single nucleotide variant |
Likely benign |
rs148361794
|
GRCh37 |
Chromosome 17, 4903559: 4903559 |