1 |
SPATA7 |
NM_018418.5(SPATA7):c.322C>T (p.Arg108Ter) |
SNV |
Pathogenic
|
1395 |
rs80044281 |
GRCh37: 14:88883138-88883138 GRCh38: 14:88416794-88416794 |
2 |
SPATA7 |
NM_018418.5(SPATA7):c.960dup (p.Pro321fs) |
DUP |
Pathogenic
|
1396 |
rs386834241 |
GRCh37: 14:88895738-88895739 GRCh38: 14:88429394-88429395 |
3 |
SPATA7 |
NM_018418.5(SPATA7):c.1183C>T (p.Arg395Ter) |
SNV |
Pathogenic
|
1397 |
rs75895925 |
GRCh37: 14:88903909-88903909 GRCh38: 14:88437565-88437565 |
4 |
SPATA7 |
SPATA7, 3-BP DEL, 1227CAC |
DEL |
Pathogenic
|
30805 |
|
GRCh37: GRCh38: |
5 |
SPATA7 |
NM_018418.5(SPATA7):c.253C>T (p.Arg85Ter) |
SNV |
Pathogenic
|
30806 |
rs140287375 |
GRCh37: 14:88883069-88883069 GRCh38: 14:88416725-88416725 |
6 |
SPATA7 |
NM_018418.5(SPATA7):c.1171C>T (p.Arg391Ter) |
SNV |
Pathogenic
|
489379 |
rs374268850 |
GRCh37: 14:88903897-88903897 GRCh38: 14:88437553-88437553 |
7 |
SPATA7 |
NM_018418.5(SPATA7):c.1200_1201del (p.Asn400fs) |
DEL |
Pathogenic
|
857630 |
rs2077123914 |
GRCh37: 14:88903925-88903926 GRCh38: 14:88437581-88437582 |
8 |
SPATA7 |
NM_018418.5(SPATA7):c.763C>T (p.Gln255Ter) |
SNV |
Pathogenic
|
977969 |
rs1387058171 |
GRCh37: 14:88892966-88892966 GRCh38: 14:88426622-88426622 |
9 |
SPATA7 |
NM_018418.5(SPATA7):c.845+1G>A |
SNV |
Pathogenic
|
977970 |
rs761981554 |
GRCh37: 14:88893049-88893049 GRCh38: 14:88426705-88426705 |
10 |
SPATA7 |
NM_018418.5(SPATA7):c.903_904del (p.Ile302fs) |
DEL |
Pathogenic
|
977971 |
rs1240995964 |
GRCh37: 14:88894030-88894031 GRCh38: 14:88427686-88427687 |
11 |
SPATA7 |
NM_018418.5(SPATA7):c.1161-1G>C |
SNV |
Pathogenic
|
977972 |
rs779101498 |
GRCh37: 14:88903886-88903886 GRCh38: 14:88437542-88437542 |
12 |
SPATA7 |
NM_018418.5(SPATA7):c.1126_1127del (p.Thr375_Asp376insTer) |
DEL |
Pathogenic
|
977973 |
rs1227147156 |
GRCh37: 14:88899521-88899522 GRCh38: 14:88433177-88433178 |
13 |
SPATA7 |
NM_018418.5(SPATA7):c.19+1G>C |
SNV |
Pathogenic
|
977974 |
rs2075555029 |
GRCh37: 14:88852182-88852182 GRCh38: 14:88385838-88385838 |
14 |
SPATA7 |
NM_018418.4:c.(?_-175)_(238+1_239-1)del |
DEL |
Pathogenic
|
978017 |
|
GRCh37: GRCh38: |
15 |
SPATA7 |
NM_018418.5(SPATA7):c.1102_1103del (p.Leu368fs) |
DEL |
Pathogenic
|
631720 |
rs777069665 |
GRCh37: 14:88899497-88899498 GRCh38: 14:88433153-88433154 |
16 |
SPATA7 |
NM_018418.5(SPATA7):c.1058dup (p.Ser354fs) |
DUP |
Pathogenic
|
236497 |
rs878853385 |
GRCh37: 14:88897540-88897541 GRCh38: 14:88431196-88431197 |
17 |
SPATA7 |
NC_000014.8:g.(?_88852143)_(88904786_?)del |
DEL |
Pathogenic
|
1071024 |
|
GRCh37: 14:88852143-88904786 GRCh38: |
18 |
SPATA7 |
NM_018418.5(SPATA7):c.1210G>T (p.Glu404Ter) |
SNV |
Pathogenic
|
1072160 |
|
GRCh37: 14:88903936-88903936 GRCh38: 14:88437592-88437592 |
19 |
SPATA7 |
NM_018418.5(SPATA7):c.265_268del (p.Leu89fs) |
DEL |
Pathogenic
|
1076482 |
|
GRCh37: 14:88883080-88883083 GRCh38: 14:88416736-88416739 |
20 |
SPATA7 |
NM_018418.5(SPATA7):c.1199_1203del (p.Asn400fs) |
DEL |
Pathogenic
|
1076781 |
|
GRCh37: 14:88903922-88903926 GRCh38: 14:88437578-88437582 |
21 |
SPATA7 |
NC_000014.8:g.(?_88852163)_(88862567_?)del |
DEL |
Pathogenic
|
1076992 |
|
GRCh37: 14:88852163-88862567 GRCh38: |
22 |
SPATA7 |
NM_018418.5(SPATA7):c.1195C>T (p.Gln399Ter) |
SNV |
Pathogenic
|
854754 |
rs2077123571 |
GRCh37: 14:88903921-88903921 GRCh38: 14:88437577-88437577 |
23 |
SPATA7 |
NM_018418.5(SPATA7):c.699_700del (p.Phe233_Ser234insTer) |
DEL |
Pathogenic
|
801398 |
rs567890014 |
GRCh37: 14:88892900-88892901 GRCh38: 14:88426556-88426557 |
24 |
SPATA7 |
NM_018418.5(SPATA7):c.288T>A (p.Cys96Ter) |
SNV |
Pathogenic
|
191050 |
rs767745816 |
GRCh37: 14:88883104-88883104 GRCh38: 14:88416760-88416760 |
25 |
SPATA7 |
NM_018418.5(SPATA7):c.19+2T>A |
SNV |
Pathogenic
|
1686226 |
|
GRCh37: 14:88852183-88852183 GRCh38: 14:88385839-88385839 |
26 |
SPATA7 |
NM_018418.5(SPATA7):c.418dup (p.Met140fs) |
DUP |
Pathogenic
|
1451496 |
|
GRCh37: 14:88892618-88892619 GRCh38: 14:88426274-88426275 |
27 |
SPATA7 |
NM_018418.5(SPATA7):c.969_975del (p.Gly324fs) |
DEL |
Pathogenic
|
1411536 |
|
GRCh37: 14:88895748-88895754 GRCh38: 14:88429404-88429410 |
28 |
SPATA7 |
NM_018418.5(SPATA7):c.700dup (p.Ser234fs) |
DUP |
Pathogenic
|
1458662 |
|
GRCh37: 14:88892899-88892900 GRCh38: 14:88426555-88426556 |
29 |
SPATA7 |
NM_018418.5(SPATA7):c.1418del (p.Met473fs) |
DEL |
Pathogenic
|
1713268 |
|
GRCh37: 14:88904384-88904384 GRCh38: 14:88438040-88438040 |
30 |
SPATA7 |
NM_018418.5(SPATA7):c.949dup (p.Ile317fs) |
DUP |
Likely Pathogenic
|
1213930 |
|
GRCh37: 14:88895722-88895723 GRCh38: 14:88429378-88429379 |
31 |
SPATA7 |
NM_018418.5(SPATA7):c.1373del (p.Val458fs) |
DEL |
Likely Pathogenic
|
503686 |
rs753697847 |
GRCh37: 14:88904339-88904339 GRCh38: 14:88437995-88437995 |
32 |
SPATA7 |
NM_018418.5(SPATA7):c.1361dup (p.Asn454fs) |
DUP |
Likely Pathogenic
|
968304 |
rs2077137130 |
GRCh37: 14:88904321-88904322 GRCh38: 14:88437977-88437978 |
33 |
SPATA7 |
NM_018418.5(SPATA7):c.1160G>A (p.Arg387Lys) |
SNV |
Likely Pathogenic
|
939148 |
rs868032740 |
GRCh37: 14:88899556-88899556 GRCh38: 14:88433212-88433212 |
34 |
SPATA7 |
NM_018418.5(SPATA7):c.20-1G>A |
SNV |
Likely Pathogenic
|
941590 |
rs554224437 |
GRCh37: 14:88857724-88857724 GRCh38: 14:88391380-88391380 |
35 |
SPATA7 |
NM_018418.5(SPATA7):c.94+2T>C |
SNV |
Likely Pathogenic
|
189245 |
rs786204787 |
GRCh37: 14:88857801-88857801 GRCh38: 14:88391457-88391457 |
36 |
SPATA7 |
NM_018418.5(SPATA7):c.372+11A>G |
SNV |
Conflicting Interpretations Of Pathogenicity
|
314780 |
rs757636745 |
GRCh37: 14:88883199-88883199 GRCh38: 14:88416855-88416855 |
37 |
SPATA7 |
NM_018418.5(SPATA7):c.729C>T (p.Arg243=) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
95908 |
rs151338404 |
GRCh37: 14:88892932-88892932 GRCh38: 14:88426588-88426588 |
38 |
SPATA7 |
NM_018418.5(SPATA7):c.387G>A (p.Pro129=) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
314781 |
rs199727517 |
GRCh37: 14:88892590-88892590 GRCh38: 14:88426246-88426246 |
39 |
SPATA7 |
NM_018418.5(SPATA7):c.57G>T (p.Pro19=) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
314775 |
rs367830780 |
GRCh37: 14:88857762-88857762 GRCh38: 14:88391418-88391418 |
40 |
SPATA7 |
NM_018418.5(SPATA7):c.57G>A (p.Pro19=) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
719794 |
rs367830780 |
GRCh37: 14:88857762-88857762 GRCh38: 14:88391418-88391418 |
41 |
SPATA7 |
NM_018418.5(SPATA7):c.19+7G>A |
SNV |
Conflicting Interpretations Of Pathogenicity
|
766822 |
rs199560035 |
GRCh37: 14:88852188-88852188 GRCh38: 14:88385844-88385844 |
42 |
SPATA7 |
NM_018418.5(SPATA7):c.207G>A (p.Ser69=) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
314777 |
rs142913613 |
GRCh37: 14:88862516-88862516 GRCh38: 14:88396172-88396172 |
43 |
SPATA7 |
NM_018418.5(SPATA7):c.913-14T>A |
SNV |
Conflicting Interpretations Of Pathogenicity
|
314784 |
rs185459765 |
GRCh37: 14:88895678-88895678 GRCh38: 14:88429334-88429334 |
44 |
SPATA7 |
NM_018418.5(SPATA7):c.1216-4C>T |
SNV |
Conflicting Interpretations Of Pathogenicity
|
314787 |
rs755958987 |
GRCh37: 14:88904178-88904178 GRCh38: 14:88437834-88437834 |
45 |
SPATA7 |
NM_018418.5(SPATA7):c.815G>A (p.Arg272Gln) |
SNV |
Conflicting Interpretations Of Pathogenicity
|
198231 |
rs34682727 |
GRCh37: 14:88893018-88893018 GRCh38: 14:88426674-88426674 |
46 |
SPATA7 |
NM_018418.5(SPATA7):c.373-15A>G |
SNV |
Conflicting Interpretations Of Pathogenicity
|
932052 |
rs781587897 |
GRCh37: 14:88892561-88892561 GRCh38: 14:88426217-88426217 |
47 |
SPATA7 |
NM_018418.5(SPATA7):c.854C>A (p.Ser285Tyr) |
SNV |
Uncertain Significance
|
937193 |
rs2076832785 |
GRCh37: 14:88893982-88893982 GRCh38: 14:88427638-88427638 |
48 |
SPATA7 |
NM_018418.5(SPATA7):c.343T>A (p.Ser115Thr) |
SNV |
Uncertain Significance
|
855468 |
rs373779457 |
GRCh37: 14:88883159-88883159 GRCh38: 14:88416815-88416815 |
49 |
SPATA7 |
NM_018418.5(SPATA7):c.103A>G (p.Thr35Ala) |
SNV |
Uncertain Significance
|
969174 |
rs368604833 |
GRCh37: 14:88859745-88859745 GRCh38: 14:88393401-88393401 |
50 |
SPATA7 |
NM_018418.5(SPATA7):c.1403A>G (p.Gln468Arg) |
SNV |
Uncertain Significance
|
971713 |
rs146142429 |
GRCh37: 14:88904369-88904369 GRCh38: 14:88438025-88438025 |