1 |
NRXN1
|
NM_001135659.2(NRXN1): c.2505C> G (p.Pro835=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs147984237
|
GRCh37 |
Chromosome 2, 50733745: 50733745 |
2 |
NRXN1
|
NM_001135659.2(NRXN1): c.2505C> G (p.Pro835=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs147984237
|
GRCh38 |
Chromosome 2, 50506607: 50506607 |
3 |
NRXN1
|
NM_001135659.2(NRXN1): c.2541C> T (p.Asn847=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs115211871
|
GRCh37 |
Chromosome 2, 50733709: 50733709 |
4 |
NRXN1
|
NM_001135659.2(NRXN1): c.2541C> T (p.Asn847=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs115211871
|
GRCh38 |
Chromosome 2, 50506571: 50506571 |
5 |
NRXN1
|
NM_001135659.2(NRXN1): c.2725C> A (p.Leu909Met)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs201818223
|
GRCh37 |
Chromosome 2, 50724745: 50724745 |
6 |
NRXN1
|
NM_001135659.2(NRXN1): c.2725C> A (p.Leu909Met)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs201818223
|
GRCh38 |
Chromosome 2, 50497607: 50497607 |
7 |
NRXN1
|
NM_001135659.2(NRXN1): c.2850G> A (p.Lys950=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs192909520
|
GRCh37 |
Chromosome 2, 50724620: 50724620 |
8 |
NRXN1
|
NM_001135659.2(NRXN1): c.2850G> A (p.Lys950=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs192909520
|
GRCh38 |
Chromosome 2, 50497482: 50497482 |
9 |
NRXN1
|
NM_001135659.2(NRXN1): c.3132G> A (p.Lys1044=)
|
single nucleotide variant |
Uncertain significance |
rs201118246
|
GRCh37 |
Chromosome 2, 50723101: 50723101 |
10 |
NRXN1
|
NM_001135659.2(NRXN1): c.3132G> A (p.Lys1044=)
|
single nucleotide variant |
Uncertain significance |
rs201118246
|
GRCh38 |
Chromosome 2, 50495963: 50495963 |
11 |
NRXN1
|
NM_001135659.2(NRXN1): c.511C> T (p.Leu171=)
|
single nucleotide variant |
Benign |
rs1045874
|
GRCh37 |
Chromosome 2, 51254901: 51254901 |
12 |
NRXN1
|
NM_001135659.2(NRXN1): c.511C> T (p.Leu171=)
|
single nucleotide variant |
Benign |
rs1045874
|
GRCh38 |
Chromosome 2, 51027763: 51027763 |
13 |
CNTNAP2
|
NM_014141.5(CNTNAP2): c.1659G> A (p.Ala553=)
|
single nucleotide variant |
Benign |
rs34592169
|
GRCh37 |
Chromosome 7, 147092861: 147092861 |
14 |
CNTNAP2
|
NM_014141.5(CNTNAP2): c.1659G> A (p.Ala553=)
|
single nucleotide variant |
Benign |
rs34592169
|
GRCh38 |
Chromosome 7, 147395769: 147395769 |
15 |
CNTNAP2
|
NM_014141.5(CNTNAP2): c.1710G> A (p.Ser570=)
|
single nucleotide variant |
Benign/Likely benign |
rs2286128
|
GRCh37 |
Chromosome 7, 147183066: 147183066 |
16 |
CNTNAP2
|
NM_014141.5(CNTNAP2): c.1710G> A (p.Ser570=)
|
single nucleotide variant |
Benign/Likely benign |
rs2286128
|
GRCh38 |
Chromosome 7, 147485974: 147485974 |
17 |
CNTNAP2
|
NM_014141.5(CNTNAP2): c.1777+10A> G
|
single nucleotide variant |
Benign |
rs2286127
|
GRCh37 |
Chromosome 7, 147183143: 147183143 |
18 |
CNTNAP2
|
NM_014141.5(CNTNAP2): c.1777+10A> G
|
single nucleotide variant |
Benign |
rs2286127
|
GRCh38 |
Chromosome 7, 147486051: 147486051 |
19 |
CNTNAP2
|
NM_014141.5(CNTNAP2): c.2256-6A> T
|
single nucleotide variant |
Benign/Likely benign |
rs10240482
|
GRCh37 |
Chromosome 7, 147674948: 147674948 |
20 |
CNTNAP2
|
NM_014141.5(CNTNAP2): c.2256-6A> T
|
single nucleotide variant |
Benign/Likely benign |
rs10240482
|
GRCh38 |
Chromosome 7, 147977856: 147977856 |
21 |
CNTNAP2
|
NM_014141.5(CNTNAP2): c.2280A> G (p.Ser760=)
|
single nucleotide variant |
Benign |
rs10240503
|
GRCh37 |
Chromosome 7, 147674978: 147674978 |
22 |
CNTNAP2
|
NM_014141.5(CNTNAP2): c.2280A> G (p.Ser760=)
|
single nucleotide variant |
Benign |
rs10240503
|
GRCh38 |
Chromosome 7, 147977886: 147977886 |
23 |
CNTNAP2
|
NM_014141.5(CNTNAP2): c.3248-4A> G
|
single nucleotide variant |
Benign |
rs3779031
|
GRCh37 |
Chromosome 7, 147926734: 147926734 |
24 |
CNTNAP2
|
NM_014141.5(CNTNAP2): c.3248-4A> G
|
single nucleotide variant |
Benign |
rs3779031
|
GRCh38 |
Chromosome 7, 148229642: 148229642 |
25 |
CNTNAP2
|
NM_014141.5(CNTNAP2): c.3723G> A (p.Ala1241=)
|
single nucleotide variant |
Benign |
rs9648691
|
GRCh37 |
Chromosome 7, 148106490: 148106490 |
26 |
CNTNAP2
|
NM_014141.5(CNTNAP2): c.3723G> A (p.Ala1241=)
|
single nucleotide variant |
Benign |
rs9648691
|
GRCh38 |
Chromosome 7, 148409398: 148409398 |
27 |
CNTNAP2
|
NM_014141.5(CNTNAP2): c.479G> A (p.Arg160His)
|
single nucleotide variant |
Uncertain significance |
rs138738227
|
GRCh37 |
Chromosome 7, 146741075: 146741075 |
28 |
CNTNAP2
|
NM_014141.5(CNTNAP2): c.479G> A (p.Arg160His)
|
single nucleotide variant |
Uncertain significance |
rs138738227
|
GRCh38 |
Chromosome 7, 147043983: 147043983 |
29 |
CNTNAP2
|
NM_014141.5(CNTNAP2): c.551-11_551-10insG
|
insertion |
Benign |
rs35167289
|
GRCh37 |
Chromosome 7, 146805228: 146805229 |
30 |
CNTNAP2
|
NM_014141.5(CNTNAP2): c.551-11_551-10insG
|
insertion |
Benign |
rs35167289
|
GRCh38 |
Chromosome 7, 147108136: 147108137 |
31 |
CNTNAP2
|
NM_014141.5(CNTNAP2): c.681C> T (p.His227=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs142984073
|
GRCh37 |
Chromosome 7, 146805369: 146805369 |
32 |
CNTNAP2
|
NM_014141.5(CNTNAP2): c.681C> T (p.His227=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs142984073
|
GRCh38 |
Chromosome 7, 147108277: 147108277 |
33 |
CNTNAP2
|
NM_014141.5(CNTNAP2): c.1854C> T (p.Gly618=)
|
single nucleotide variant |
Benign/Likely benign |
rs61732849
|
GRCh37 |
Chromosome 7, 147259306: 147259306 |
34 |
CNTNAP2
|
NM_014141.5(CNTNAP2): c.1854C> T (p.Gly618=)
|
single nucleotide variant |
Benign/Likely benign |
rs61732849
|
GRCh38 |
Chromosome 7, 147562214: 147562214 |
35 |
CNTNAP2
|
NM_014141.5(CNTNAP2): c.318C> T (p.Ser106=)
|
single nucleotide variant |
Benign/Likely benign |
rs61732853
|
GRCh37 |
Chromosome 7, 146536912: 146536912 |
36 |
CNTNAP2
|
NM_014141.5(CNTNAP2): c.318C> T (p.Ser106=)
|
single nucleotide variant |
Benign/Likely benign |
rs61732853
|
GRCh38 |
Chromosome 7, 146839820: 146839820 |
37 |
CNTNAP2
|
NM_014141.5(CNTNAP2): c.3522A> T (p.Gly1174=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs141078449
|
GRCh37 |
Chromosome 7, 148080787: 148080787 |
38 |
CNTNAP2
|
NM_014141.5(CNTNAP2): c.3522A> T (p.Gly1174=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs141078449
|
GRCh38 |
Chromosome 7, 148383695: 148383695 |
39 |
CNTNAP2
|
NM_014141.5(CNTNAP2): c.3797-6C> T
|
single nucleotide variant |
Benign/Likely benign |
rs79777576
|
GRCh37 |
Chromosome 7, 148112503: 148112503 |
40 |
CNTNAP2
|
NM_014141.5(CNTNAP2): c.3797-6C> T
|
single nucleotide variant |
Benign/Likely benign |
rs79777576
|
GRCh38 |
Chromosome 7, 148415411: 148415411 |
41 |
NRXN1
|
NM_001135659.2(NRXN1): c.1278+5A> T
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs201802152
|
GRCh37 |
Chromosome 2, 50848338: 50848338 |
42 |
NRXN1
|
NM_001135659.2(NRXN1): c.1278+5A> T
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs201802152
|
GRCh38 |
Chromosome 2, 50621200: 50621200 |
43 |
NRXN1
|
NM_001135659.2(NRXN1): c.3369C> T (p.Pro1123=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs116236999
|
GRCh37 |
Chromosome 2, 50692695: 50692695 |
44 |
NRXN1
|
NM_001135659.2(NRXN1): c.3369C> T (p.Pro1123=)
|
single nucleotide variant |
Conflicting interpretations of pathogenicity |
rs116236999
|
GRCh38 |
Chromosome 2, 50465557: 50465557 |
45 |
NRXN1
|
NM_001135659.2(NRXN1): c.3528G> A (p.Thr1176=)
|
single nucleotide variant |
Benign/Likely benign |
rs80094872
|
GRCh37 |
Chromosome 2, 50464065: 50464065 |
46 |
NRXN1
|
NM_001135659.2(NRXN1): c.3528G> A (p.Thr1176=)
|
single nucleotide variant |
Benign/Likely benign |
rs80094872
|
GRCh38 |
Chromosome 2, 50236927: 50236927 |
47 |
NRXN1
|
NM_001135659.2(NRXN1): c.4188G> A (p.Thr1396=)
|
single nucleotide variant |
Benign/Likely benign |
rs74714098
|
GRCh37 |
Chromosome 2, 50280469: 50280469 |
48 |
NRXN1
|
NM_001135659.2(NRXN1): c.4188G> A (p.Thr1396=)
|
single nucleotide variant |
Benign/Likely benign |
rs74714098
|
GRCh38 |
Chromosome 2, 50053331: 50053331 |
49 |
NRXN1
|
NM_001135659.2(NRXN1): c.871+9G> A
|
single nucleotide variant |
Benign/Likely benign |
rs61658382
|
GRCh37 |
Chromosome 2, 51253500: 51253500 |
50 |
NRXN1
|
NM_001135659.2(NRXN1): c.871+9G> A
|
single nucleotide variant |
Benign/Likely benign |
rs61658382
|
GRCh38 |
Chromosome 2, 51026362: 51026362 |