| NM_001303052.2(MYT1L):c.259G>A (p.Val87Met) |
single nucleotide variant |
not provided [RCV001537280] |
Chr2:1943228 [GRCh38]
Chr2:1947000 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.1585G>A (p.Gly529Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 39 [RCV000723275]|not provided [RCV001585685] |
Chr2:1917238 [GRCh38]
Chr2:1921010 [GRCh37]
Chr2:2p25.3 |
pathogenic|likely pathogenic |
| NM_001303052.2(MYT1L):c.90-33C>T |
single nucleotide variant |
not provided [RCV001544972] |
Chr2:1979260 [GRCh38]
Chr2:1983032 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.1532G>A (p.Cys511Tyr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 39 [RCV003320011] |
Chr2:1917291 [GRCh38]
Chr2:1921063 [GRCh37]
Chr2:2p25.3 |
likely pathogenic |
| NM_001303052.2(MYT1L):c.1072C>T (p.Arg358Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002527647]|not provided [RCV000519516] |
Chr2:1922697 [GRCh38]
Chr2:1926469 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| GRCh38/hg38 2p25.3-24.3(chr2:30141-14494040)x3 |
copy number gain |
See cases [RCV000052928] |
Chr2:30141..14494040 [GRCh38]
Chr2:30141..14634164 [GRCh37]
Chr2:20141..14551615 [NCBI36]
Chr2:2p25.3-24.3 |
pathogenic |
| GRCh38/hg38 2p25.3-23.1(chr2:30141-31766749)x3 |
copy number gain |
See cases [RCV000052929] |
Chr2:30141..31766749 [GRCh38]
Chr2:30141..31991818 [GRCh37]
Chr2:20141..31845322 [NCBI36]
Chr2:2p25.3-23.1 |
pathogenic |
| GRCh38/hg38 2p25.3-24.3(chr2:30342-14866951)x3 |
copy number gain |
See cases [RCV000052931] |
Chr2:30342..14866951 [GRCh38]
Chr2:30342..15007075 [GRCh37]
Chr2:20342..14924526 [NCBI36]
Chr2:2p25.3-24.3 |
pathogenic |
| GRCh38/hg38 2p25.3-25.1(chr2:50661-9652907)x3 |
copy number gain |
See cases [RCV000052932] |
Chr2:50661..9652907 [GRCh38]
Chr2:50661..9793036 [GRCh37]
Chr2:40661..9710487 [NCBI36]
Chr2:2p25.3-25.1 |
pathogenic |
| GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 |
copy number gain |
See cases [RCV000052933] |
Chr2:66097..55570637 [GRCh38]
Chr2:66097..55797773 [GRCh37]
Chr2:56097..55651277 [NCBI36]
Chr2:2p25.3-16.1 |
pathogenic |
| GRCh38/hg38 2p25.3(chr2:50661-3293835)x1 |
copy number loss |
See cases [RCV000053977] |
Chr2:50661..3293835 [GRCh38]
Chr2:50661..3297606 [GRCh37]
Chr2:40661..3276613 [NCBI36]
Chr2:2p25.3 |
pathogenic |
| NM_015025.3(MYT1L):c.325G>A (p.Glu109Lys) |
single nucleotide variant |
Malignant melanoma [RCV000065335] |
Chr2:1943162 [GRCh38]
Chr2:1946934 [GRCh37]
Chr2:1925941 [NCBI36]
Chr2:2p25.3 |
not provided |
| NM_015025.3(MYT1L):c.-520-16158G>C |
single nucleotide variant |
Lung cancer [RCV000091944] |
Chr2:2300661 [GRCh38]
Chr2:2304433 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_015025.3(MYT1L):c.2769-4661G>C |
single nucleotide variant |
Lung cancer [RCV000091724] |
Chr2:1845504 [GRCh38]
Chr2:1849276 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_015025.3(MYT1L):c.505+8331T>A |
single nucleotide variant |
Lung cancer [RCV000091777] |
Chr2:1934651 [GRCh38]
Chr2:1938423 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_015025.3(MYT1L):c.505+67G>T |
single nucleotide variant |
Lung cancer [RCV000091781] |
Chr2:1942915 [GRCh38]
Chr2:1946687 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_015025.3(MYT1L):c.-304+13804G>T |
single nucleotide variant |
Lung cancer [RCV000091888] |
Chr2:2159068 [GRCh38]
Chr2:2162840 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_015025.3(MYT1L):c.-421+41969T>C |
single nucleotide variant |
Lung cancer [RCV000091919] |
Chr2:2242435 [GRCh38]
Chr2:2246207 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.1672C>T (p.Arg558Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 39 [RCV001253116] |
Chr2:1912057 [GRCh38]
Chr2:1915829 [GRCh37]
Chr2:2p25.3 |
likely pathogenic |
| NM_001303052.2(MYT1L):c.2642+1G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 39 [RCV000190461]|not provided [RCV000401783] |
Chr2:1887487 [GRCh38]
Chr2:1891259 [GRCh37]
Chr2:2p25.3 |
pathogenic |
| NM_001303052.2(MYT1L):c.1923T>G (p.Tyr641Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 39 [RCV000190462] |
Chr2:1903189 [GRCh38]
Chr2:1906961 [GRCh37]
Chr2:2p25.3 |
pathogenic |
| GRCh38/hg38 2p25.3-25.2(chr2:30341-4932359)x3 |
copy number gain |
See cases [RCV000133936] |
Chr2:30341..4932359 [GRCh38]
Chr2:30341..4979949 [GRCh37]
Chr2:20341..4957824 [NCBI36]
Chr2:2p25.3-25.2 |
pathogenic |
| GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3 |
copy number gain |
See cases [RCV000135398] |
Chr2:30341..28419664 [GRCh38]
Chr2:30341..28642531 [GRCh37]
Chr2:20341..28496035 [NCBI36]
Chr2:2p25.3-23.2 |
pathogenic |
| GRCh38/hg38 2p25.3(chr2:1784717-2305267)x3 |
copy number gain |
See cases [RCV000135710] |
Chr2:1784717..2305267 [GRCh38]
Chr2:1788489..2309039 [GRCh37]
Chr2:1767496..2288046 [NCBI36]
Chr2:2p25.3 |
conflicting data from submitters |
| GRCh38/hg38 2p25.3(chr2:30341-1969402)x1 |
copy number loss |
See cases [RCV000135569] |
Chr2:30341..1969402 [GRCh38]
Chr2:30341..1973174 [GRCh37]
Chr2:20341..1952181 [NCBI36]
Chr2:2p25.3 |
pathogenic |
| GRCh38/hg38 2p25.3(chr2:30341-3449132)x1 |
copy number loss |
See cases [RCV000135536] |
Chr2:30341..3449132 [GRCh38]
Chr2:30341..3452903 [GRCh37]
Chr2:20341..3431910 [NCBI36]
Chr2:2p25.3 |
pathogenic |
| GRCh38/hg38 2p25.3(chr2:30341-2656139)x1 |
copy number loss |
See cases [RCV000137250] |
Chr2:30341..2656139 [GRCh38]
Chr2:30341..2659911 [GRCh37]
Chr2:20341..2638918 [NCBI36]
Chr2:2p25.3 |
pathogenic|likely benign |
| GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3 |
copy number gain |
See cases [RCV000137344] |
Chr2:17019..26318846 [GRCh38]
Chr2:17019..26541714 [GRCh37]
Chr2:7019..26395218 [NCBI36]
Chr2:2p25.3-23.3 |
pathogenic |
| GRCh38/hg38 2p25.3(chr2:1844295-3488792)x3 |
copy number gain |
See cases [RCV000138141] |
Chr2:1844295..3488792 [GRCh38]
Chr2:1848067..3492563 [GRCh37]
Chr2:1827074..3471570 [NCBI36]
Chr2:2p25.3 |
uncertain significance |
| GRCh38/hg38 2p25.3-24.1(chr2:1664615-23664142)x3 |
copy number gain |
See cases [RCV000137913] |
Chr2:1664615..23664142 [GRCh38]
Chr2:1668387..23887012 [GRCh37]
Chr2:1647394..23740517 [NCBI36]
Chr2:2p25.3-24.1 |
pathogenic|likely pathogenic |
| GRCh38/hg38 2p25.3(chr2:17019-2305267)x1 |
copy number loss |
See cases [RCV000141392] |
Chr2:17019..2305267 [GRCh38]
Chr2:17019..2309039 [GRCh37]
Chr2:7019..2288046 [NCBI36]
Chr2:2p25.3 |
pathogenic |
| GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3 |
copy number gain |
See cases [RCV000141226] |
Chr2:17019..20001056 [GRCh38]
Chr2:17019..20200817 [GRCh37]
Chr2:7019..20064298 [NCBI36]
Chr2:2p25.3-24.1 |
pathogenic |
| GRCh38/hg38 2p25.3(chr2:12770-2310816)x1 |
copy number loss |
See cases [RCV000140900] |
Chr2:12770..2310816 [GRCh38]
Chr2:12770..2314588 [GRCh37]
Chr2:2770..2293595 [NCBI36]
Chr2:2p25.3 |
likely pathogenic |
| GRCh38/hg38 2p25.3-25.2(chr2:17019-4957745)x3 |
copy number gain |
See cases [RCV000140981] |
Chr2:17019..4957745 [GRCh38]
Chr2:17019..5005335 [GRCh37]
Chr2:7019..4983210 [NCBI36]
Chr2:2p25.3-25.2 |
likely pathogenic |
| GRCh38/hg38 2p25.3(chr2:1614809-1844295)x3 |
copy number gain |
See cases [RCV000141066] |
Chr2:1614809..1844295 [GRCh38]
Chr2:1618581..1848067 [GRCh37]
Chr2:1597588..1827074 [NCBI36]
Chr2:2p25.3 |
likely benign |
| GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3 |
copy number gain |
See cases [RCV000141829] |
Chr2:12770..33711509 [GRCh38]
Chr2:12770..33936576 [GRCh37]
Chr2:2770..33790080 [NCBI36]
Chr2:2p25.3-22.3 |
pathogenic |
| GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3 |
copy number gain |
See cases [RCV000141877] |
Chr2:12770..25039694 [GRCh38]
Chr2:12770..25262563 [GRCh37]
Chr2:2770..25116067 [NCBI36]
Chr2:2p25.3-23.3 |
pathogenic |
| GRCh38/hg38 2p25.3(chr2:12770-2748672)x1 |
copy number loss |
See cases [RCV000141849] |
Chr2:12770..2748672 [GRCh38]
Chr2:12770..2752444 [GRCh37]
Chr2:2770..2731451 [NCBI36]
Chr2:2p25.3 |
pathogenic |
| GRCh38/hg38 2p25.3(chr2:131730-2713517)x1 |
copy number loss |
See cases [RCV000142884] |
Chr2:131730..2713517 [GRCh38]
Chr2:131730..2717289 [GRCh37]
Chr2:121730..2696296 [NCBI36]
Chr2:2p25.3 |
pathogenic |
| GRCh38/hg38 2p25.3-25.2(chr2:30341-4642399)x3 |
copy number gain |
See cases [RCV000142735] |
Chr2:30341..4642399 [GRCh38]
Chr2:30341..4689989 [GRCh37]
Chr2:20341..4667864 [NCBI36]
Chr2:2p25.3-25.2 |
pathogenic |
| GRCh38/hg38 2p25.3(chr2:12770-4318861)x3 |
copy number gain |
See cases [RCV000143781] |
Chr2:12770..4318861 [GRCh38]
Chr2:12770..4366451 [GRCh37]
Chr2:2770..4344326 [NCBI36]
Chr2:2p25.3 |
uncertain significance |
| GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3 |
copy number gain |
See cases [RCV000143682] |
Chr2:236816..45983232 [GRCh38]
Chr2:236816..46210371 [GRCh37]
Chr2:226816..46063875 [NCBI36]
Chr2:2p25.3-21 |
pathogenic |
| NM_001303052.2(MYT1L):c.3080+12C>A |
single nucleotide variant |
not provided [RCV000514312] |
Chr2:1839137 [GRCh38]
Chr2:1842909 [GRCh37]
Chr2:2p25.3 |
benign|likely benign |
| NM_001303052.2(MYT1L):c.1706G>A (p.Arg569Gln) |
single nucleotide variant |
Intellectual disability [RCV001257695]|Intellectual disability, autosomal dominant 39 [RCV000754090]|not provided [RCV000224698] |
Chr2:1912023 [GRCh38]
Chr2:1915795 [GRCh37]
Chr2:2p25.3 |
pathogenic|likely pathogenic |
| NM_001303052.2(MYT1L):c.487G>T (p.Glu163Ter) |
single nucleotide variant |
not provided [RCV000291517] |
Chr2:1943000 [GRCh38]
Chr2:1946772 [GRCh37]
Chr2:2p25.3 |
pathogenic |
| NM_001303052.2(MYT1L):c.1705C>T (p.Arg569Ter) |
single nucleotide variant |
not provided [RCV000345789] |
Chr2:1912024 [GRCh38]
Chr2:1915796 [GRCh37]
Chr2:2p25.3 |
pathogenic |
| NM_001303052.2(MYT1L):c.2123dup (p.Ser709fs) |
duplication |
Intellectual disability, autosomal dominant 39 [RCV002264926]|not provided [RCV000388810] |
Chr2:1892196..1892197 [GRCh38]
Chr2:1895968..1895969 [GRCh37]
Chr2:2p25.3 |
pathogenic|not provided |
| NM_001303052.2(MYT1L):c.2032+24A>G |
single nucleotide variant |
not provided [RCV001547110] |
Chr2:1903056 [GRCh38]
Chr2:1906828 [GRCh37]
Chr2:2p25.3 |
likely benign |
| GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 |
copy number gain |
not provided [RCV000752802] |
Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_001303052.2(MYT1L):c.1717G>A (p.Gly573Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV000622671]|Intellectual disability, autosomal dominant 39 [RCV002289911]|not provided [RCV002248822] |
Chr2:1910340 [GRCh38]
Chr2:1914112 [GRCh37]
Chr2:2p25.3 |
pathogenic|likely pathogenic|uncertain significance |
| NM_001303052.2(MYT1L):c.760dup (p.Asp254fs) |
duplication |
Intellectual disability, autosomal dominant 39 [RCV000578253] |
Chr2:1923008..1923009 [GRCh38]
Chr2:1926780..1926781 [GRCh37]
Chr2:2p25.3 |
pathogenic |
| NM_001303052.2(MYT1L):c.2554G>T (p.Glu852Ter) |
single nucleotide variant |
not provided [RCV000578969] |
Chr2:1887576 [GRCh38]
Chr2:1891348 [GRCh37]
Chr2:2p25.3 |
pathogenic |
| NM_001303052.2(MYT1L):c.606del (p.Lys203fs) |
deletion |
not provided [RCV000599284] |
Chr2:1923163 [GRCh38]
Chr2:1926935 [GRCh37]
Chr2:2p25.3 |
pathogenic |
| NM_001303052.2(MYT1L):c.2141_2149del (p.Thr714_Ser716del) |
deletion |
not provided [RCV000599451] |
Chr2:1892171..1892179 [GRCh38]
Chr2:1895943..1895951 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| GRCh37/hg19 2p25.3(chr2:1946914-2010185)x3 |
copy number gain |
not provided [RCV000752826] |
Chr2:1946914..2010185 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.153-5A>G |
single nucleotide variant |
not specified [RCV000523972] |
Chr2:1943339 [GRCh38]
Chr2:1947111 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.1559T>C (p.Leu520Pro) |
single nucleotide variant |
Intellectual disability, autosomal dominant 39 [RCV000416999] |
Chr2:1917264 [GRCh38]
Chr2:1921036 [GRCh37]
Chr2:2p25.3 |
likely pathogenic |
| GRCh37/hg19 2p25.3(chr2:1741827-1854242)x3 |
copy number gain |
See cases [RCV000448951] |
Chr2:1741827..1854242 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| GRCh37/hg19 2p25.3(chr2:528352-2564992)x1 |
copy number loss |
Intellectual disability, autosomal dominant 39 [RCV000448420] |
Chr2:528352..2564992 [GRCh37]
Chr2:2p25.3 |
pathogenic|uncertain significance |
| NM_001303052.2(MYT1L):c.2458C>T (p.Pro820Ser) |
single nucleotide variant |
not provided [RCV000479239] |
Chr2:1889303 [GRCh38]
Chr2:1893075 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.1583C>T (p.Ser528Phe) |
single nucleotide variant |
not provided [RCV000483053] |
Chr2:1917240 [GRCh38]
Chr2:1921012 [GRCh37]
Chr2:2p25.3 |
likely pathogenic |
| NM_001303052.2(MYT1L):c.1221_1222delinsT (p.Glu407fs) |
indel |
not provided [RCV000483472] |
Chr2:1922547..1922548 [GRCh38]
Chr2:1926319..1926320 [GRCh37]
Chr2:2p25.3 |
pathogenic |
| GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) |
copy number gain |
See cases [RCV000512056] |
Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_001303052.2(MYT1L):c.1068del (p.Asn356fs) |
deletion |
not provided [RCV000479302] |
Chr2:1922701 [GRCh38]
Chr2:1926473 [GRCh37]
Chr2:2p25.3 |
pathogenic |
| NM_001303052.2(MYT1L):c.2881G>A (p.Gly961Ser) |
single nucleotide variant |
not provided [RCV000498772] |
Chr2:1839348 [GRCh38]
Chr2:1843120 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| GRCh37/hg19 2p25.3(chr2:1383123-1812894)x3 |
copy number gain |
See cases [RCV000511525] |
Chr2:1383123..1812894 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.3081-2A>G |
single nucleotide variant |
not provided [RCV000578786] |
Chr2:1809169 [GRCh38]
Chr2:1812941 [GRCh37]
Chr2:2p25.3 |
likely pathogenic |
| GRCh37/hg19 2p25.3-24.1(chr2:12770-20081474)x3 |
copy number gain |
See cases [RCV000510934] |
Chr2:12770..20081474 [GRCh37]
Chr2:2p25.3-24.1 |
pathogenic |
| GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 |
copy number gain |
See cases [RCV000511212] |
Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_001303052.2(MYT1L):c.1817+15T>G |
single nucleotide variant |
not provided [RCV000513832] |
Chr2:1910225 [GRCh38]
Chr2:1913997 [GRCh37]
Chr2:2p25.3 |
benign|likely benign |
| NM_001303052.2(MYT1L):c.2412del (p.Met804fs) |
deletion |
not provided [RCV000627571] |
Chr2:1889349 [GRCh38]
Chr2:1893121 [GRCh37]
Chr2:2p25.3 |
pathogenic |
| NM_001303052.2(MYT1L):c.1121G>A (p.Arg374Lys) |
single nucleotide variant |
not specified [RCV003317910] |
Chr2:1922648 [GRCh38]
Chr2:1926420 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.181del (p.Arg61fs) |
deletion |
not provided [RCV003318311] |
Chr2:1943306 [GRCh38]
Chr2:1947078 [GRCh37]
Chr2:2p25.3 |
pathogenic |
| NM_001303052.2(MYT1L):c.2032+5G>A |
single nucleotide variant |
not provided [RCV000658439] |
Chr2:1903075 [GRCh38]
Chr2:1906847 [GRCh37]
Chr2:2p25.3 |
likely pathogenic |
| GRCh37/hg19 2p25.3(chr2:2148352-2203775)x1 |
copy number loss |
not provided [RCV000681976] |
Chr2:2148352..2203775 [GRCh37]
Chr2:2p25.3 |
likely pathogenic |
| GRCh37/hg19 2p25.3(chr2:1544765-1959942)x3 |
copy number gain |
not provided [RCV000682072] |
Chr2:1544765..1959942 [GRCh37]
Chr2:2p25.3 |
likely pathogenic |
| GRCh37/hg19 2p25.3(chr2:1611691-1861548)x3 |
copy number gain |
not provided [RCV000682044] |
Chr2:1611691..1861548 [GRCh37]
Chr2:2p25.3 |
likely pathogenic |
| GRCh37/hg19 2p25.3(chr2:1252376-1865090)x3 |
copy number gain |
not provided [RCV000682092] |
Chr2:1252376..1865090 [GRCh37]
Chr2:2p25.3 |
likely pathogenic|uncertain significance |
| GRCh37/hg19 2p25.3(chr2:1750599-2049792)x3 |
copy number gain |
not provided [RCV000682054] |
Chr2:1750599..2049792 [GRCh37]
Chr2:2p25.3 |
likely pathogenic |
| GRCh37/hg19 2p25.3-25.2(chr2:12770-4823625)x3 |
copy number gain |
not provided [RCV000682156] |
Chr2:12770..4823625 [GRCh37]
Chr2:2p25.3-25.2 |
pathogenic |
| GRCh37/hg19 2p25.3(chr2:1734538-2303645)x3 |
copy number gain |
not provided [RCV000682087] |
Chr2:1734538..2303645 [GRCh37]
Chr2:2p25.3 |
likely pathogenic |
| NM_001303052.2(MYT1L):c.2284-5G>A |
single nucleotide variant |
Intellectual disability [RCV001252339] |
Chr2:1889482 [GRCh38]
Chr2:1893254 [GRCh37]
Chr2:2p25.3 |
likely benign |
| GRCh37/hg19 2p25.3(chr2:2007869-2009429)x1 |
copy number loss |
not provided [RCV000752827] |
Chr2:2007869..2009429 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.2775-37G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 39 [RCV001544463]|not provided [RCV001615285] |
Chr2:1840880 [GRCh38]
Chr2:1844652 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.2859-201G>A |
single nucleotide variant |
not provided [RCV001574317] |
Chr2:1839571 [GRCh38]
Chr2:1843343 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.2283+9G>T |
single nucleotide variant |
not provided [RCV001539727] |
Chr2:1892028 [GRCh38]
Chr2:1895800 [GRCh37]
Chr2:2p25.3 |
benign |
| GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 |
copy number gain |
not provided [RCV000752804] |
Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| GRCh37/hg19 2p25.3(chr2:658937-2456024)x3 |
copy number gain |
not provided [RCV000752815] |
Chr2:658937..2456024 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.2221_2230del (p.Thr741fs) |
deletion |
Intellectual disability [RCV001257694]|Intellectual disability, autosomal dominant 39 [RCV000754091]|not provided [RCV004588161] |
Chr2:1892090..1892099 [GRCh38]
Chr2:1895862..1895871 [GRCh37]
Chr2:2p25.3 |
pathogenic|likely pathogenic |
| NM_001303052.2(MYT1L):c.1678C>T (p.His560Tyr) |
single nucleotide variant |
Intellectual disability [RCV001255346]|Intellectual disability, autosomal dominant 39 [RCV000754625] |
Chr2:1912051 [GRCh38]
Chr2:1915823 [GRCh37]
Chr2:2p25.3 |
pathogenic|likely pathogenic |
| NM_001303052.2(MYT1L):c.1619-193C>T |
single nucleotide variant |
not provided [RCV001585529] |
Chr2:1912303 [GRCh38]
Chr2:1916075 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.1605G>A (p.Arg535=) |
single nucleotide variant |
not provided [RCV000916144] |
Chr2:1917218 [GRCh38]
Chr2:1920990 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.37C>A (p.Arg13=) |
single nucleotide variant |
not provided [RCV001584672] |
Chr2:1979741 [GRCh38]
Chr2:1983513 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.1104C>A (p.Pro368=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 39 [RCV001544467]|not provided [RCV001534473]|not specified [RCV001528246] |
Chr2:1922665 [GRCh38]
Chr2:1926437 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.152+135T>C |
single nucleotide variant |
not provided [RCV001534562] |
Chr2:1979030 [GRCh38]
Chr2:1982802 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.152+60A>C |
single nucleotide variant |
not provided [RCV001645207] |
Chr2:1979105 [GRCh38]
Chr2:1982877 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.2751C>T (p.Thr917=) |
single nucleotide variant |
not provided [RCV001679588] |
Chr2:1851664 [GRCh38]
Chr2:1855436 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.388GAG[4] (p.Glu134del) |
microsatellite |
not provided [RCV001586450] |
Chr2:1943085..1943087 [GRCh38]
Chr2:1946857..1946859 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.1996C>T (p.Gln666Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 39 [RCV003314212] |
Chr2:1903116 [GRCh38]
Chr2:1906888 [GRCh37]
Chr2:2p25.3 |
pathogenic |
| NM_001303052.2(MYT1L):c.2838del (p.Glu947fs) |
deletion |
Intellectual disability, autosomal dominant 39 [RCV003314393] |
Chr2:1840780 [GRCh38]
Chr2:1844552 [GRCh37]
Chr2:2p25.3 |
likely pathogenic |
| NM_001303052.2(MYT1L):c.3214A>C (p.Ile1072Leu) |
single nucleotide variant |
not provided [RCV003314789] |
Chr2:1801758 [GRCh38]
Chr2:1805530 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.2859-303T>A |
single nucleotide variant |
not provided [RCV001662885] |
Chr2:1839673 [GRCh38]
Chr2:1843445 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.2858+205C>G |
single nucleotide variant |
not provided [RCV001586858] |
Chr2:1840555 [GRCh38]
Chr2:1844327 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.2642C>G (p.Thr881Ser) |
single nucleotide variant |
not provided [RCV003312463] |
Chr2:1887488 [GRCh38]
Chr2:1891260 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.1-48C>A |
single nucleotide variant |
not provided [RCV001648011] |
Chr2:1979825 [GRCh38]
Chr2:1983597 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.2061C>T (p.Pro687=) |
single nucleotide variant |
not provided [RCV001666278] |
Chr2:1892259 [GRCh38]
Chr2:1896031 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.56-48T>G |
single nucleotide variant |
not provided [RCV001692761] |
Chr2:1979602 [GRCh38]
Chr2:1983374 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.429C>T (p.Asp143=) |
single nucleotide variant |
not provided [RCV001576215]|not specified [RCV001821912] |
Chr2:1943058 [GRCh38]
Chr2:1946830 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.3277-227A>G |
single nucleotide variant |
not provided [RCV001576289] |
Chr2:1792691 [GRCh38]
Chr2:1796463 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.1116G>A (p.Pro372=) |
single nucleotide variant |
not provided [RCV000923053] |
Chr2:1922653 [GRCh38]
Chr2:1926425 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.651C>T (p.Tyr217=) |
single nucleotide variant |
MYT1L-related disorder [RCV003923006]|not provided [RCV000903024] |
Chr2:1923118 [GRCh38]
Chr2:1926890 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.954C>T (p.Ser318=) |
single nucleotide variant |
not provided [RCV000904273]|not specified [RCV001818771] |
Chr2:1922815 [GRCh38]
Chr2:1926587 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.111C>T (p.Asp37=) |
single nucleotide variant |
not provided [RCV000929332] |
Chr2:1979206 [GRCh38]
Chr2:1982978 [GRCh37]
Chr2:2p25.3 |
benign|likely benign |
| NM_001303052.2(MYT1L):c.1512C>T (p.Ser504=) |
single nucleotide variant |
MYT1L-related disorder [RCV004753086]|not provided [RCV000891960] |
Chr2:1917311 [GRCh38]
Chr2:1921083 [GRCh37]
Chr2:2p25.3 |
benign|likely benign |
| NM_001303052.2(MYT1L):c.2346G>A (p.Pro782=) |
single nucleotide variant |
not provided [RCV000906119] |
Chr2:1889415 [GRCh38]
Chr2:1893187 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.387G>A (p.Arg129=) |
single nucleotide variant |
not provided [RCV000902937] |
Chr2:1943100 [GRCh38]
Chr2:1946872 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.799C>T (p.Leu267=) |
single nucleotide variant |
not provided [RCV000899835] |
Chr2:1922970 [GRCh38]
Chr2:1926742 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.153-7T>A |
single nucleotide variant |
not provided [RCV000965596] |
Chr2:1943341 [GRCh38]
Chr2:1947113 [GRCh37]
Chr2:2p25.3 |
benign|likely benign |
| NM_001303052.2(MYT1L):c.1527C>T (p.Pro509=) |
single nucleotide variant |
not provided [RCV000882201] |
Chr2:1917296 [GRCh38]
Chr2:1921068 [GRCh37]
Chr2:2p25.3 |
benign|likely benign |
| NM_001303052.2(MYT1L):c.372C>T (p.Asp124=) |
single nucleotide variant |
not provided [RCV000923737] |
Chr2:1943115 [GRCh38]
Chr2:1946887 [GRCh37]
Chr2:2p25.3 |
benign|likely benign |
| NM_001303052.2(MYT1L):c.3076C>A (p.Arg1026Ser) |
single nucleotide variant |
not provided [RCV000782067] |
Chr2:1839153 [GRCh38]
Chr2:1842925 [GRCh37]
Chr2:2p25.3 |
likely pathogenic |
| NM_001303052.2(MYT1L):c.535C>T (p.Arg179Ter) |
single nucleotide variant |
not provided [RCV000782076] |
Chr2:1923234 [GRCh38]
Chr2:1927006 [GRCh37]
Chr2:2p25.3 |
likely pathogenic |
| NM_001303052.2(MYT1L):c.2055C>A (p.Pro685=) |
single nucleotide variant |
not provided [RCV000930533] |
Chr2:1892265 [GRCh38]
Chr2:1896037 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.2532G>A (p.Leu844=) |
single nucleotide variant |
not provided [RCV000964853] |
Chr2:1887598 [GRCh38]
Chr2:1891370 [GRCh37]
Chr2:2p25.3 |
benign|likely benign |
| NM_001303052.2(MYT1L):c.1716C>T (p.Ser572=) |
single nucleotide variant |
not provided [RCV000964854] |
Chr2:1910341 [GRCh38]
Chr2:1914113 [GRCh37]
Chr2:2p25.3 |
benign|likely benign |
| NM_001303052.2(MYT1L):c.273C>T (p.Asp91=) |
single nucleotide variant |
MYT1L-related disorder [RCV003936174]|not provided [RCV000973666] |
Chr2:1943214 [GRCh38]
Chr2:1946986 [GRCh37]
Chr2:2p25.3 |
benign|likely benign |
| NM_001303052.2(MYT1L):c.474G>A (p.Glu158=) |
single nucleotide variant |
MYT1L-related disorder [RCV003913064]|not provided [RCV000916374] |
Chr2:1943013 [GRCh38]
Chr2:1946785 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.1164G>A (p.Gln388=) |
single nucleotide variant |
not provided [RCV000899834] |
Chr2:1922605 [GRCh38]
Chr2:1926377 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.3096G>A (p.Pro1032=) |
single nucleotide variant |
not provided [RCV000927075] |
Chr2:1809152 [GRCh38]
Chr2:1812924 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.2922C>T (p.Ser974=) |
single nucleotide variant |
MYT1L-related disorder [RCV003960856]|not provided [RCV000972677] |
Chr2:1839307 [GRCh38]
Chr2:1843079 [GRCh37]
Chr2:2p25.3 |
benign|likely benign |
| NM_001303052.2(MYT1L):c.1347G>A (p.Arg449=) |
single nucleotide variant |
not provided [RCV000941109] |
Chr2:1922422 [GRCh38]
Chr2:1926194 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.1422C>T (p.Pro474=) |
single nucleotide variant |
not provided [RCV000896620] |
Chr2:1922347 [GRCh38]
Chr2:1926119 [GRCh37]
Chr2:2p25.3 |
benign|likely benign |
| GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) |
copy number gain |
Mosaic trisomy 2 [RCV002280628] |
Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3 |
pathogenic |
| NM_001303052.2(MYT1L):c.2877C>T (p.Cys959=) |
single nucleotide variant |
not provided [RCV000976615] |
Chr2:1839352 [GRCh38]
Chr2:1843124 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.48G>A (p.Gly16=) |
single nucleotide variant |
not provided [RCV000891724] |
Chr2:1979730 [GRCh38]
Chr2:1983502 [GRCh37]
Chr2:2p25.3 |
likely benign |
| GRCh37/hg19 2p25.3(chr2:12770-2348876)x1 |
copy number loss |
not provided [RCV000848970] |
Chr2:12770..2348876 [GRCh37]
Chr2:2p25.3 |
pathogenic |
| GRCh37/hg19 2p25.3(chr2:1920627-2044260)x3 |
copy number gain |
not provided [RCV000848069] |
Chr2:1920627..2044260 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| GRCh37/hg19 2p25.3-25.1(chr2:12770-7502796)x3 |
copy number gain |
not provided [RCV000847257] |
Chr2:12770..7502796 [GRCh37]
Chr2:2p25.3-25.1 |
pathogenic |
| NM_001303052.2(MYT1L):c.1325C>T (p.Thr442Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003259028]|not provided [RCV000997024] |
Chr2:1922444 [GRCh38]
Chr2:1926216 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.2443G>A (p.Asp815Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 39 [RCV000791048] |
Chr2:1889318 [GRCh38]
Chr2:1893090 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.1733C>T (p.Ala578Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 39 [RCV000825012] |
Chr2:1910324 [GRCh38]
Chr2:1914096 [GRCh37]
Chr2:2p25.3 |
likely pathogenic |
| NM_001303052.2(MYT1L):c.333C>T (p.Ser111=) |
single nucleotide variant |
not provided [RCV000917154] |
Chr2:1943154 [GRCh38]
Chr2:1946926 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.1935G>A (p.Ser645=) |
single nucleotide variant |
not provided [RCV000894181] |
Chr2:1903177 [GRCh38]
Chr2:1906949 [GRCh37]
Chr2:2p25.3 |
likely benign |
| GRCh37/hg19 2p25.3(chr2:12770-2832894)x1 |
copy number loss |
not provided [RCV000846709] |
Chr2:12770..2832894 [GRCh37]
Chr2:2p25.3 |
pathogenic |
| GRCh37/hg19 2p25.3(chr2:12770-3819558)x3 |
copy number gain |
not provided [RCV000846909] |
Chr2:12770..3819558 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| GRCh37/hg19 2p25.3(chr2:2033726-2832894)x1 |
copy number loss |
not provided [RCV000846033] |
Chr2:2033726..2832894 [GRCh37]
Chr2:2p25.3 |
pathogenic |
| GRCh37/hg19 2p25.3(chr2:1741827-1850859)x3 |
copy number gain |
not provided [RCV000849259] |
Chr2:1741827..1850859 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.1953C>T (p.Tyr651=) |
single nucleotide variant |
not provided [RCV000891950] |
Chr2:1903159 [GRCh38]
Chr2:1906931 [GRCh37]
Chr2:2p25.3 |
benign |
| GRCh37/hg19 2p25.3(chr2:2164149-2396499)x1 |
copy number loss |
not provided [RCV000848901] |
Chr2:2164149..2396499 [GRCh37]
Chr2:2p25.3 |
pathogenic |
| GRCh37/hg19 2p25.3-25.1(chr2:12770-7502796)x3 |
copy number gain |
not provided [RCV000847256] |
Chr2:12770..7502796 [GRCh37]
Chr2:2p25.3-25.1 |
pathogenic |
| GRCh37/hg19 2p25.3(chr2:1544733-1802661)x4 |
copy number gain |
not provided [RCV000847500] |
Chr2:1544733..1802661 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.1695G>T (p.Arg565Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 39 [RCV000986586] |
Chr2:1912034 [GRCh38]
Chr2:1915806 [GRCh37]
Chr2:2p25.3 |
likely pathogenic |
| NM_001303052.2(MYT1L):c.52C>T (p.Arg18Ter) |
single nucleotide variant |
not provided [RCV001171619] |
Chr2:1979726 [GRCh38]
Chr2:1983498 [GRCh37]
Chr2:2p25.3 |
pathogenic |
| GRCh37/hg19 2p25.3(chr2:843845-1862481)x3 |
copy number gain |
not provided [RCV000846011] |
Chr2:843845..1862481 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.2573G>A (p.Gly858Glu) |
single nucleotide variant |
not provided [RCV003312464] |
Chr2:1887557 [GRCh38]
Chr2:1891329 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| GRCh37/hg19 2p25.3(chr2:1045542-4104255)x3 |
copy number gain |
not provided [RCV001005221] |
Chr2:1045542..4104255 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.1029G>C (p.Glu343Asp) |
single nucleotide variant |
Autism spectrum disorder [RCV003127382] |
Chr2:1922740 [GRCh38]
Chr2:1926512 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.1181G>C (p.Arg394Thr) |
single nucleotide variant |
Autism spectrum disorder [RCV003127383] |
Chr2:1922588 [GRCh38]
Chr2:1926360 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.2677C>T (p.Arg893Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 39 [RCV003127384] |
Chr2:1886573 [GRCh38]
Chr2:1890345 [GRCh37]
Chr2:2p25.3 |
pathogenic |
| NM_001303052.2(MYT1L):c.2643-136A>C |
single nucleotide variant |
not provided [RCV001571424] |
Chr2:1886743 [GRCh38]
Chr2:1890515 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.1709+280G>A |
single nucleotide variant |
not provided [RCV001551882] |
Chr2:1911740 [GRCh38]
Chr2:1915512 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.2775-57G>A |
single nucleotide variant |
not provided [RCV001675062] |
Chr2:1840900 [GRCh38]
Chr2:1844672 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.3529A>G (p.Ile1177Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 39 [RCV001542369] |
Chr2:1791899 [GRCh38]
Chr2:1795671 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.2775-146G>A |
single nucleotide variant |
not provided [RCV001597361] |
Chr2:1840989 [GRCh38]
Chr2:1844761 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.2496C>T (p.Asp832=) |
single nucleotide variant |
not provided [RCV001617821] |
Chr2:1889265 [GRCh38]
Chr2:1893037 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.2284-6C>T |
single nucleotide variant |
MYT1L-related disorder [RCV003948672]|not provided [RCV001686948] |
Chr2:1889483 [GRCh38]
Chr2:1893255 [GRCh37]
Chr2:2p25.3 |
benign|likely benign |
| NM_001303052.2(MYT1L):c.149G>A (p.Arg50Lys) |
single nucleotide variant |
not provided [RCV001550203] |
Chr2:1979168 [GRCh38]
Chr2:1982940 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.1619-126A>C |
single nucleotide variant |
not provided [RCV001660796] |
Chr2:1912236 [GRCh38]
Chr2:1916008 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.708T>C (p.Asp236=) |
single nucleotide variant |
not provided [RCV001598521] |
Chr2:1923061 [GRCh38]
Chr2:1926833 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.1483+19G>A |
single nucleotide variant |
not provided [RCV001596511] |
Chr2:1922267 [GRCh38]
Chr2:1926039 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.2033-184G>A |
single nucleotide variant |
not provided [RCV001681097] |
Chr2:1892471 [GRCh38]
Chr2:1896243 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.3033A>T (p.Gly1011=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 39 [RCV002502014]|not provided [RCV001671418] |
Chr2:1839196 [GRCh38]
Chr2:1842968 [GRCh37]
Chr2:2p25.3 |
benign|likely benign |
| NM_001303052.2(MYT1L):c.152+21del |
deletion |
not provided [RCV001679659] |
Chr2:1979144 [GRCh38]
Chr2:1982916 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.89+52C>T |
single nucleotide variant |
not provided [RCV001690946] |
Chr2:1979469 [GRCh38]
Chr2:1983241 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.3173-177G>A |
single nucleotide variant |
not provided [RCV001681447] |
Chr2:1801976 [GRCh38]
Chr2:1805748 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.2284-140T>C |
single nucleotide variant |
not provided [RCV001649162] |
Chr2:1889617 [GRCh38]
Chr2:1893389 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.3276+39G>A |
single nucleotide variant |
not provided [RCV001613636] |
Chr2:1801657 [GRCh38]
Chr2:1805429 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.3080+134G>A |
single nucleotide variant |
not provided [RCV001681951] |
Chr2:1839015 [GRCh38]
Chr2:1842787 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.3277-243A>G |
single nucleotide variant |
not provided [RCV001551696] |
Chr2:1792707 [GRCh38]
Chr2:1796479 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.1115C>T (p.Pro372Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV004039332]|not provided [RCV001563278] |
Chr2:1922654 [GRCh38]
Chr2:1926426 [GRCh37]
Chr2:2p25.3 |
likely benign|uncertain significance |
| NM_001303052.2(MYT1L):c.2775-9C>G |
single nucleotide variant |
not provided [RCV001548642] |
Chr2:1840852 [GRCh38]
Chr2:1844624 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.2033-221_2033-220del |
deletion |
not provided [RCV001570670] |
Chr2:1892507..1892508 [GRCh38]
Chr2:1896279..1896280 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.1618+97C>T |
single nucleotide variant |
not provided [RCV001656760] |
Chr2:1917108 [GRCh38]
Chr2:1920880 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.468GGA[8] (p.Glu167dup) |
microsatellite |
Inborn genetic diseases [RCV002538654]|Intellectual disability, autosomal dominant 39 [RCV002488478]|MYT1L-related disorder [RCV003948688]|not provided [RCV001716705] |
Chr2:1942998..1942999 [GRCh38]
Chr2:1946770..1946771 [GRCh37]
Chr2:2p25.3 |
benign|likely benign |
| NM_001303052.2(MYT1L):c.3277-268A>C |
single nucleotide variant |
not provided [RCV001614427] |
Chr2:1792732 [GRCh38]
Chr2:1796504 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.3276+38C>T |
single nucleotide variant |
not provided [RCV001657039] |
Chr2:1801658 [GRCh38]
Chr2:1805430 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.3173-323A>C |
single nucleotide variant |
not provided [RCV001595274] |
Chr2:1802122 [GRCh38]
Chr2:1805894 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.2461G>A (p.Val821Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003346223]|not provided [RCV000943102] |
Chr2:1889300 [GRCh38]
Chr2:1893072 [GRCh37]
Chr2:2p25.3 |
benign|likely benign |
| NM_001303052.2(MYT1L):c.1584C>T (p.Ser528=) |
single nucleotide variant |
MYT1L-related disorder [RCV003913067]|not provided [RCV000916479] |
Chr2:1917239 [GRCh38]
Chr2:1921011 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.1548C>T (p.His516=) |
single nucleotide variant |
not provided [RCV000936750] |
Chr2:1917275 [GRCh38]
Chr2:1921047 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.1053G>T (p.Pro351=) |
single nucleotide variant |
MYT1L-related disorder [RCV003960801]|not provided [RCV000968537] |
Chr2:1922716 [GRCh38]
Chr2:1926488 [GRCh37]
Chr2:2p25.3 |
benign|likely benign |
| NM_001303052.2(MYT1L):c.2910G>A (p.Ala970=) |
single nucleotide variant |
MYT1L-related disorder [RCV003968218]|not provided [RCV000898938] |
Chr2:1839319 [GRCh38]
Chr2:1843091 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.925G>A (p.Gly309Arg) |
single nucleotide variant |
not provided [RCV001238706] |
Chr2:1922844 [GRCh38]
Chr2:1926616 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.1673G>A (p.Arg558His) |
single nucleotide variant |
Inborn genetic diseases [RCV002559219]|not specified [RCV001193267] |
Chr2:1912056 [GRCh38]
Chr2:1915828 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.2571C>T (p.Pro857=) |
single nucleotide variant |
MYT1L-related disorder [RCV003902921]|not provided [RCV000913417] |
Chr2:1887559 [GRCh38]
Chr2:1891331 [GRCh37]
Chr2:2p25.3 |
benign|likely benign |
| NM_001303052.2(MYT1L):c.1080T>C (p.His360=) |
single nucleotide variant |
not provided [RCV000912790] |
Chr2:1922689 [GRCh38]
Chr2:1926461 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.345T>C (p.Asp115=) |
single nucleotide variant |
not provided [RCV004714260]|not specified [RCV001529001] |
Chr2:1943142 [GRCh38]
Chr2:1946914 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.1484-315G>A |
single nucleotide variant |
not provided [RCV001562018] |
Chr2:1917654 [GRCh38]
Chr2:1921426 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.657C>T (p.Ala219=) |
single nucleotide variant |
not provided [RCV001660809] |
Chr2:1923112 [GRCh38]
Chr2:1926884 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.423C>T (p.Asp141=) |
single nucleotide variant |
not provided [RCV001557380] |
Chr2:1943064 [GRCh38]
Chr2:1946836 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.107G>A (p.Cys36Tyr) |
single nucleotide variant |
not provided [RCV002464922] |
Chr2:1979210 [GRCh38]
Chr2:1982982 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.3173-326G>A |
single nucleotide variant |
not provided [RCV001574879] |
Chr2:1802125 [GRCh38]
Chr2:1805897 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.2474A>G (p.Lys825Arg) |
single nucleotide variant |
not provided [RCV003236008] |
Chr2:1889287 [GRCh38]
Chr2:1893059 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.2484C>T (p.Pro828=) |
single nucleotide variant |
not provided [RCV001682251] |
Chr2:1889277 [GRCh38]
Chr2:1893049 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.3080+42G>A |
single nucleotide variant |
not provided [RCV001558554] |
Chr2:1839107 [GRCh38]
Chr2:1842879 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.1-70T>C |
single nucleotide variant |
not provided [RCV001688763] |
Chr2:1979847 [GRCh38]
Chr2:1983619 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.3081-118C>A |
single nucleotide variant |
not provided [RCV001641274] |
Chr2:1809285 [GRCh38]
Chr2:1813057 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.2859-71T>C |
single nucleotide variant |
not provided [RCV001593880] |
Chr2:1839441 [GRCh38]
Chr2:1843213 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.3080+147A>G |
single nucleotide variant |
not provided [RCV001693436] |
Chr2:1839002 [GRCh38]
Chr2:1842774 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.3420+45G>A |
single nucleotide variant |
not provided [RCV001593972] |
Chr2:1792276 [GRCh38]
Chr2:1796048 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.2775-205G>A |
single nucleotide variant |
not provided [RCV001595887] |
Chr2:1841048 [GRCh38]
Chr2:1844820 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.3172+3G>A |
single nucleotide variant |
See cases [RCV002253090] |
Chr2:1809073 [GRCh38]
Chr2:1812845 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.2858+74A>G |
single nucleotide variant |
Intellectual disability, autosomal dominant 39 [RCV001544462]|not provided [RCV001655868] |
Chr2:1840686 [GRCh38]
Chr2:1844458 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.3173-114A>G |
single nucleotide variant |
not provided [RCV001546471] |
Chr2:1801913 [GRCh38]
Chr2:1805685 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.2201C>T (p.Thr734Ile) |
single nucleotide variant |
not provided [RCV002467237] |
Chr2:1892119 [GRCh38]
Chr2:1895891 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.1035C>G (p.Asn345Lys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 39 [RCV002471974] |
Chr2:1922734 [GRCh38]
Chr2:1926506 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| GRCh37/hg19 2p25.3(chr2:2138672-2204279)x1 |
copy number loss |
not provided [RCV002473906] |
Chr2:2138672..2204279 [GRCh37]
Chr2:2p25.3 |
likely pathogenic|uncertain significance |
| GRCh37/hg19 2p25.3(chr2:12770-3000954)x1 |
copy number loss |
not provided [RCV001005218] |
Chr2:12770..3000954 [GRCh37]
Chr2:2p25.3 |
pathogenic |
| NM_001303052.2(MYT1L):c.1718G>A (p.Gly573Glu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 39 [RCV001264753] |
Chr2:1910339 [GRCh38]
Chr2:1914111 [GRCh37]
Chr2:2p25.3 |
likely pathogenic |
| NM_001303052.2(MYT1L):c.2521-38A>T |
single nucleotide variant |
not provided [RCV001716357] |
Chr2:1887647 [GRCh38]
Chr2:1891419 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.1410G>A (p.Pro470=) |
single nucleotide variant |
MYT1L-related disorder [RCV003956293]|not provided [RCV001608715]|not specified [RCV001821926] |
Chr2:1922359 [GRCh38]
Chr2:1926131 [GRCh37]
Chr2:2p25.3 |
benign|likely benign |
| NM_001303052.2(MYT1L):c.1-1G>T |
single nucleotide variant |
not provided [RCV001536165] |
Chr2:1979778 [GRCh38]
Chr2:1983550 [GRCh37]
Chr2:2p25.3 |
pathogenic |
| NM_001303052.2(MYT1L):c.2871C>T (p.Pro957=) |
single nucleotide variant |
not provided [RCV001659342] |
Chr2:1839358 [GRCh38]
Chr2:1843130 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.3276+143T>C |
single nucleotide variant |
not provided [RCV001592574] |
Chr2:1801553 [GRCh38]
Chr2:1805325 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.2712-201C>A |
single nucleotide variant |
not provided [RCV001687740] |
Chr2:1851904 [GRCh38]
Chr2:1855676 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.915C>T (p.Pro305=) |
single nucleotide variant |
MYT1L-related disorder [RCV003948645]|not provided [RCV001619112] |
Chr2:1922854 [GRCh38]
Chr2:1926626 [GRCh37]
Chr2:2p25.3 |
benign|likely benign |
| NM_001303052.2(MYT1L):c.2317C>T (p.Leu773=) |
single nucleotide variant |
not provided [RCV001638923] |
Chr2:1889444 [GRCh38]
Chr2:1893216 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.1484-11G>A |
single nucleotide variant |
not provided [RCV001593861] |
Chr2:1917350 [GRCh38]
Chr2:1921122 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.505+39T>G |
single nucleotide variant |
not provided [RCV001637338] |
Chr2:1942943 [GRCh38]
Chr2:1946715 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.995A>G (p.Asn332Ser) |
single nucleotide variant |
not provided [RCV001593682] |
Chr2:1922774 [GRCh38]
Chr2:1926546 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.1659G>A (p.Pro553=) |
single nucleotide variant |
not provided [RCV001670717] |
Chr2:1912070 [GRCh38]
Chr2:1915842 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.1862A>G (p.Tyr621Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 39 [RCV002272483]|not provided [RCV001590673] |
Chr2:1903250 [GRCh38]
Chr2:1907022 [GRCh37]
Chr2:2p25.3 |
likely benign|uncertain significance |
| NM_001303052.2(MYT1L):c.2712-242T>C |
single nucleotide variant |
not provided [RCV001687109] |
Chr2:1851945 [GRCh38]
Chr2:1855717 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.924C>T (p.Asn308=) |
single nucleotide variant |
not provided [RCV001698560] |
Chr2:1922845 [GRCh38]
Chr2:1926617 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.817G>A (p.Gly273Ser) |
single nucleotide variant |
MYT1L-related disorder [RCV003941042]|not provided [RCV001598726] |
Chr2:1922952 [GRCh38]
Chr2:1926724 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.56-69G>A |
single nucleotide variant |
not provided [RCV001678574] |
Chr2:1979623 [GRCh38]
Chr2:1983395 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.31C>T (p.Arg11Cys) |
single nucleotide variant |
not provided [RCV001621016] |
Chr2:1979747 [GRCh38]
Chr2:1983519 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.1710-136C>T |
single nucleotide variant |
not provided [RCV001596312] |
Chr2:1910483 [GRCh38]
Chr2:1914255 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.1818-24G>T |
single nucleotide variant |
not provided [RCV001636059] |
Chr2:1903318 [GRCh38]
Chr2:1907090 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.2437G>A (p.Glu813Lys) |
single nucleotide variant |
Intellectual disability [RCV001252340] |
Chr2:1889324 [GRCh38]
Chr2:1893096 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.2400G>A (p.Gln800=) |
single nucleotide variant |
not provided [RCV001725672] |
Chr2:1889361 [GRCh38]
Chr2:1893133 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.3080+45G>C |
single nucleotide variant |
not provided [RCV001680739] |
Chr2:1839104 [GRCh38]
Chr2:1842876 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.2642+307dup |
duplication |
not provided [RCV001695922] |
Chr2:1887167..1887168 [GRCh38]
Chr2:1890939..1890940 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.2712-211G>T |
single nucleotide variant |
not provided [RCV001614267] |
Chr2:1851914 [GRCh38]
Chr2:1855686 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.3039C>T (p.Asp1013=) |
single nucleotide variant |
not provided [RCV001648022] |
Chr2:1839190 [GRCh38]
Chr2:1842962 [GRCh37]
Chr2:2p25.3 |
benign|likely benign |
| NM_001303052.2(MYT1L):c.505+108T>G |
single nucleotide variant |
not provided [RCV001710822] |
Chr2:1942874 [GRCh38]
Chr2:1946646 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.1483+65G>A |
single nucleotide variant |
not provided [RCV001650138] |
Chr2:1922221 [GRCh38]
Chr2:1925993 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.2033-236dup |
duplication |
not provided [RCV001710748] |
Chr2:1892506..1892507 [GRCh38]
Chr2:1896278..1896279 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.2712-191G>A |
single nucleotide variant |
not provided [RCV001652109] |
Chr2:1851894 [GRCh38]
Chr2:1855666 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.2774+295A>G |
single nucleotide variant |
not provided [RCV001646067] |
Chr2:1851346 [GRCh38]
Chr2:1855118 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.2711+241G>A |
single nucleotide variant |
not provided [RCV001669164] |
Chr2:1886298 [GRCh38]
Chr2:1890070 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.2643-36A>G |
single nucleotide variant |
not provided [RCV001670439] |
Chr2:1886643 [GRCh38]
Chr2:1890415 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.1619-192G>A |
single nucleotide variant |
not provided [RCV001680933] |
Chr2:1912302 [GRCh38]
Chr2:1916074 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.3172+21C>T |
single nucleotide variant |
not provided [RCV001581008] |
Chr2:1809055 [GRCh38]
Chr2:1812827 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.1937T>C (p.Phe646Ser) |
single nucleotide variant |
not provided [RCV001546214] |
Chr2:1903175 [GRCh38]
Chr2:1906947 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.1618+253G>C |
single nucleotide variant |
not provided [RCV001614595] |
Chr2:1916952 [GRCh38]
Chr2:1920724 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.3172+279A>G |
single nucleotide variant |
not provided [RCV001545747] |
Chr2:1808797 [GRCh38]
Chr2:1812569 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.3255T>C (p.Asp1085=) |
single nucleotide variant |
not provided [RCV001695955] |
Chr2:1801717 [GRCh38]
Chr2:1805489 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.1709+12G>A |
single nucleotide variant |
not provided [RCV001614637] |
Chr2:1912008 [GRCh38]
Chr2:1915780 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.1709+43T>C |
single nucleotide variant |
not provided [RCV001693732] |
Chr2:1911977 [GRCh38]
Chr2:1915749 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.2775-57del |
deletion |
not provided [RCV001537134] |
Chr2:1840900 [GRCh38]
Chr2:1844672 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.2775-61_2775-60del |
deletion |
not provided [RCV001574289] |
Chr2:1840903..1840904 [GRCh38]
Chr2:1844675..1844676 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.1618+18C>T |
single nucleotide variant |
not provided [RCV001643993] |
Chr2:1917187 [GRCh38]
Chr2:1920959 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.3081-256_3081-255insT |
insertion |
not provided [RCV001710213] |
Chr2:1809422..1809423 [GRCh38]
Chr2:1813194..1813195 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.2284-43A>G |
single nucleotide variant |
not provided [RCV001696575] |
Chr2:1889520 [GRCh38]
Chr2:1893292 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.229C>A (p.Pro77Thr) |
single nucleotide variant |
not provided [RCV001684067] |
Chr2:1943258 [GRCh38]
Chr2:1947030 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.505+41G>A |
single nucleotide variant |
not provided [RCV001713646] |
Chr2:1942941 [GRCh38]
Chr2:1946713 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.1682T>A (p.Val561Asp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 39 [RCV001249647] |
Chr2:1912047 [GRCh38]
Chr2:1915819 [GRCh37]
Chr2:2p25.3 |
pathogenic |
| NM_001303052.2(MYT1L):c.1968T>A (p.Tyr656Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 39 [RCV001249659] |
Chr2:1903144 [GRCh38]
Chr2:1906916 [GRCh37]
Chr2:2p25.3 |
pathogenic |
| NM_001303052.2(MYT1L):c.2818G>A (p.Ala940Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 39 [RCV001195772] |
Chr2:1840800 [GRCh38]
Chr2:1844572 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.459A>T (p.Glu153Asp) |
single nucleotide variant |
Intellectual disability [RCV001252337] |
Chr2:1943028 [GRCh38]
Chr2:1946800 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NC_000002.12:g.1852253_1943384dup |
duplication |
Intellectual disability, autosomal dominant 39 [RCV001253139] |
|
uncertain significance |
| NM_001303052.2(MYT1L):c.1516T>C (p.Cys506Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 39 [RCV001252575]|not provided [RCV001586091] |
Chr2:1917307 [GRCh38]
Chr2:1921079 [GRCh37]
Chr2:2p25.3 |
pathogenic|likely pathogenic |
| NM_001303052.2(MYT1L):c.1189G>T (p.Ala397Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002570508]|Intellectual disability [RCV001252338] |
Chr2:1922580 [GRCh38]
Chr2:1926352 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.505G>A (p.Glu169Lys) |
single nucleotide variant |
Intellectual disability [RCV001257764]|not provided [RCV001664787] |
Chr2:1942982 [GRCh38]
Chr2:1946754 [GRCh37]
Chr2:2p25.3 |
pathogenic|uncertain significance |
| GRCh37/hg19 2p25.3(chr2:1492690-2204279)x3 |
copy number gain |
not provided [RCV001259162] |
Chr2:1492690..2204279 [GRCh37]
Chr2:2p25.3 |
likely pathogenic|uncertain significance |
| GRCh37/hg19 2p25.3(chr2:1900809-2280568)x3 |
copy number gain |
not provided [RCV001259163] |
Chr2:1900809..2280568 [GRCh37]
Chr2:2p25.3 |
likely pathogenic |
| NM_001303052.2(MYT1L):c.560A>T (p.Asp187Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 39 [RCV002280283]|not provided [RCV003329441] |
Chr2:1923209 [GRCh38]
Chr2:1926981 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.1570C>A (p.His524Asn) |
single nucleotide variant |
Intellectual disability [RCV001257763] |
Chr2:1917253 [GRCh38]
Chr2:1921025 [GRCh37]
Chr2:2p25.3 |
likely pathogenic |
| NM_001303052.2(MYT1L):c.2520T>C (p.Thr840=) |
single nucleotide variant |
not provided [RCV001311544] |
Chr2:1889241 [GRCh38]
Chr2:1893013 [GRCh37]
Chr2:2p25.3 |
benign|likely benign |
| NM_001303052.2(MYT1L):c.2484_2485del (p.Arg829fs) |
deletion |
Intellectual disability, autosomal dominant 39 [RCV001809065] |
Chr2:1889276..1889277 [GRCh38]
Chr2:1893048..1893049 [GRCh37]
Chr2:2p25.3 |
likely pathogenic |
| NM_001303052.2(MYT1L):c.569A>G (p.Asn190Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 39 [RCV001262992] |
Chr2:1923200 [GRCh38]
Chr2:1926972 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| GRCh37/hg19 2p25.3(chr2:2074335-3934366)x3 |
copy number gain |
not provided [RCV001259634] |
Chr2:2074335..3934366 [GRCh37]
Chr2:2p25.3 |
pathogenic |
| NM_001303052.2(MYT1L):c.2671A>G (p.Ser891Gly) |
single nucleotide variant |
Intellectual disability [RCV001257692] |
Chr2:1886579 [GRCh38]
Chr2:1890351 [GRCh37]
Chr2:2p25.3 |
pathogenic |
| NM_001303052.2(MYT1L):c.1579C>T (p.Leu527=) |
single nucleotide variant |
Intellectual disability [RCV001257693] |
Chr2:1917244 [GRCh38]
Chr2:1921016 [GRCh37]
Chr2:2p25.3 |
pathogenic |
| NM_001303052.2(MYT1L):c.2188del (p.His730fs) |
deletion |
Neurodevelopmental abnormality [RCV001264697] |
Chr2:1892132 [GRCh38]
Chr2:1895904 [GRCh37]
Chr2:2p25.3 |
pathogenic |
| NM_001303052.2(MYT1L):c.2423_2424del (p.Cys808fs) |
microsatellite |
Intellectual disability [RCV001257696] |
Chr2:1889337..1889338 [GRCh38]
Chr2:1893109..1893110 [GRCh37]
Chr2:2p25.3 |
pathogenic |
| NM_001303052.2(MYT1L):c.1533del (p.Cys511fs) |
deletion |
Intellectual disability [RCV001257762] |
Chr2:1917290 [GRCh38]
Chr2:1921062 [GRCh37]
Chr2:2p25.3 |
pathogenic |
| NM_001303052.2(MYT1L):c.351del (p.Asp119fs) |
deletion |
Intellectual disability, autosomal dominant 39 [RCV001254937] |
Chr2:1943136 [GRCh38]
Chr2:1946908 [GRCh37]
Chr2:2p25.3 |
pathogenic |
| NM_001303052.2(MYT1L):c.2775-153G>A |
single nucleotide variant |
not provided [RCV001581401] |
Chr2:1840996 [GRCh38]
Chr2:1844768 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.682A>G (p.Asn228Asp) |
single nucleotide variant |
Intellectual disability [RCV001281483] |
Chr2:1923087 [GRCh38]
Chr2:1926859 [GRCh37]
Chr2:2p25.3 |
likely pathogenic |
| NM_001303052.2(MYT1L):c.1295C>A (p.Thr432Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 39 [RCV001330591] |
Chr2:1922474 [GRCh38]
Chr2:1926246 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.568A>G (p.Asn190Asp) |
single nucleotide variant |
not provided [RCV001305641] |
Chr2:1923201 [GRCh38]
Chr2:1926973 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.2712-4G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 39 [RCV001330592] |
Chr2:1851707 [GRCh38]
Chr2:1855479 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.1807del (p.Arg603fs) |
deletion |
Intellectual disability, autosomal dominant 39 [RCV002291300]|Neurodevelopmental disorder [RCV001374947] |
Chr2:1910250 [GRCh38]
Chr2:1914022 [GRCh37]
Chr2:2p25.3 |
pathogenic |
| NM_001303052.2(MYT1L):c.2345C>A (p.Pro782Gln) |
single nucleotide variant |
not provided [RCV001786670] |
Chr2:1889416 [GRCh38]
Chr2:1893188 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.1211G>C (p.Gly404Ala) |
single nucleotide variant |
not provided [RCV001371757] |
Chr2:1922558 [GRCh38]
Chr2:1926330 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.1975C>T (p.Arg659Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 39 [RCV004570662]|Neurodevelopmental disorder [RCV001374922]|not provided [RCV001269726] |
Chr2:1903137 [GRCh38]
Chr2:1906909 [GRCh37]
Chr2:2p25.3 |
pathogenic|likely pathogenic |
| NM_001303052.2(MYT1L):c.1543G>A (p.Gly515Ser) |
single nucleotide variant |
Intellectual disability, autosomal dominant 39 [RCV002280024] |
Chr2:1917280 [GRCh38]
Chr2:1921052 [GRCh37]
Chr2:2p25.3 |
likely pathogenic |
| NM_001303052.2(MYT1L):c.2996C>A (p.Ser999Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 39 [RCV001312229] |
Chr2:1839233 [GRCh38]
Chr2:1843005 [GRCh37]
Chr2:2p25.3 |
pathogenic |
| NM_001303052.2(MYT1L):c.1764G>A (p.Lys588=) |
single nucleotide variant |
not provided [RCV001531308] |
Chr2:1910293 [GRCh38]
Chr2:1914065 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.2256C>G (p.Thr752=) |
single nucleotide variant |
not provided [RCV001538242] |
Chr2:1892064 [GRCh38]
Chr2:1895836 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.3033A>G (p.Gly1011=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 39 [RCV001544461]|not provided [RCV001685434]|not specified [RCV001529934] |
Chr2:1839196 [GRCh38]
Chr2:1842968 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.152+87G>T |
single nucleotide variant |
not provided [RCV001666381] |
Chr2:1979078 [GRCh38]
Chr2:1982850 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.1053G>A (p.Pro351=) |
single nucleotide variant |
MYT1L-related disorder [RCV003980814]|not provided [RCV001619302] |
Chr2:1922716 [GRCh38]
Chr2:1926488 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.1618+34G>T |
single nucleotide variant |
not provided [RCV001539658] |
Chr2:1917171 [GRCh38]
Chr2:1920943 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.2033-220del |
deletion |
not provided [RCV001670761] |
Chr2:1892507 [GRCh38]
Chr2:1896279 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.720C>T (p.Asn240=) |
single nucleotide variant |
not provided [RCV001653169] |
Chr2:1923049 [GRCh38]
Chr2:1926821 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.1200G>A (p.Ala400=) |
single nucleotide variant |
not provided [RCV001695039] |
Chr2:1922569 [GRCh38]
Chr2:1926341 [GRCh37]
Chr2:2p25.3 |
benign|likely benign |
| NM_001303052.2(MYT1L):c.3173-202A>G |
single nucleotide variant |
not provided [RCV001643337] |
Chr2:1802001 [GRCh38]
Chr2:1805773 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.468GGA[5] (p.Glu166_Glu167del) |
microsatellite |
MYT1L-related disorder [RCV003968467]|not provided [RCV001680262] |
Chr2:1942999..1943004 [GRCh38]
Chr2:1946771..1946776 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.1818-261G>A |
single nucleotide variant |
not provided [RCV001693976] |
Chr2:1903555 [GRCh38]
Chr2:1907327 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.2583C>G (p.Thr861=) |
single nucleotide variant |
MYT1L-related disorder [RCV004753377]|not provided [RCV001614023] |
Chr2:1887547 [GRCh38]
Chr2:1891319 [GRCh37]
Chr2:2p25.3 |
benign|likely benign |
| NM_001303052.2(MYT1L):c.2775-61G>A |
single nucleotide variant |
not provided [RCV001685030] |
Chr2:1840904 [GRCh38]
Chr2:1844676 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.2521-31G>A |
single nucleotide variant |
not provided [RCV001592459] |
Chr2:1887640 [GRCh38]
Chr2:1891412 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.468GGA[6] (p.Glu167del) |
microsatellite |
not provided [RCV001715429] |
Chr2:1942999..1943001 [GRCh38]
Chr2:1946771..1946773 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.2711+138T>C |
single nucleotide variant |
not provided [RCV001685293] |
Chr2:1886401 [GRCh38]
Chr2:1890173 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.2284-85C>G |
single nucleotide variant |
not provided [RCV001716562] |
Chr2:1889562 [GRCh38]
Chr2:1893334 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.2283+38G>T |
single nucleotide variant |
not provided [RCV001686987] |
Chr2:1891999 [GRCh38]
Chr2:1895771 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.2859-43C>T |
single nucleotide variant |
not provided [RCV001616224] |
Chr2:1839413 [GRCh38]
Chr2:1843185 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.2032+105A>G |
single nucleotide variant |
not provided [RCV001696440] |
Chr2:1902975 [GRCh38]
Chr2:1906747 [GRCh37]
Chr2:2p25.3 |
benign |
| NC_000002.12:g.2281453_2420148del |
deletion |
Intellectual disability, autosomal dominant 39 [RCV001591634] |
Chr2:2281453..2420148 [GRCh38]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.2859-143T>C |
single nucleotide variant |
not provided [RCV001616989] |
Chr2:1839513 [GRCh38]
Chr2:1843285 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.291G>A (p.Glu97=) |
single nucleotide variant |
not provided [RCV001670330] |
Chr2:1943196 [GRCh38]
Chr2:1946968 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.2712-92G>T |
single nucleotide variant |
not provided [RCV001536210] |
Chr2:1851795 [GRCh38]
Chr2:1851795..1851796 [GRCh38]
Chr2:1855567 [GRCh37]
Chr2:1855567..1855568 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.3172+56G>A |
single nucleotide variant |
not provided [RCV001527781] |
Chr2:1809020 [GRCh38]
Chr2:1812792 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.310G>A (p.Glu104Lys) |
single nucleotide variant |
not provided [RCV002244429] |
Chr2:1943177 [GRCh38]
Chr2:1946949 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.1618+28G>A |
single nucleotide variant |
not provided [RCV001732517] |
Chr2:1917177 [GRCh38]
Chr2:1920949 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.672A>C (p.Glu224Asp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 39 [RCV001730077]|not provided [RCV001882797] |
Chr2:1923097 [GRCh38]
Chr2:1926869 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.405C>G (p.Ile135Met) |
single nucleotide variant |
Intellectual disability, autosomal dominant 39 [RCV002272496]|not provided [RCV001779788] |
Chr2:1943082 [GRCh38]
Chr2:1946854 [GRCh37]
Chr2:2p25.3 |
likely benign|uncertain significance |
| GRCh37/hg19 2p25.3(chr2:1711539-1928783)x3 |
copy number gain |
not provided [RCV001833008] |
Chr2:1711539..1928783 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.2452G>A (p.Asp818Asn) |
single nucleotide variant |
Intellectual disability, autosomal dominant 39 [RCV001780439]|not provided [RCV001763210] |
Chr2:1889309 [GRCh38]
Chr2:1893081 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.2074_2082del (p.Thr692_Ser694del) |
deletion |
not provided [RCV001763493] |
Chr2:1892238..1892246 [GRCh38]
Chr2:1896010..1896018 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.860A>G (p.Asp287Gly) |
single nucleotide variant |
not provided [RCV001757242] |
Chr2:1922909 [GRCh38]
Chr2:1926681 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.1631A>G (p.His544Arg) |
single nucleotide variant |
not provided [RCV001774806] |
Chr2:1912098 [GRCh38]
Chr2:1915870 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.2348G>A (p.Arg783Gln) |
single nucleotide variant |
not provided [RCV001772791] |
Chr2:1889413 [GRCh38]
Chr2:1893185 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.2396A>C (p.Gln799Pro) |
single nucleotide variant |
not provided [RCV001752068] |
Chr2:1889365 [GRCh38]
Chr2:1893137 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.2127C>G (p.Ser709Arg) |
single nucleotide variant |
not provided [RCV001754514] |
Chr2:1892193 [GRCh38]
Chr2:1895965 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.2075_2104del (p.Thr692_Ser701del) |
deletion |
not provided [RCV001752305] |
Chr2:1892216..1892245 [GRCh38]
Chr2:1895988..1896017 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.1252G>A (p.Asp418Asn) |
single nucleotide variant |
not provided [RCV001767670] |
Chr2:1922517 [GRCh38]
Chr2:1926289 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.706G>C (p.Asp236His) |
single nucleotide variant |
not provided [RCV001765653] |
Chr2:1923063 [GRCh38]
Chr2:1926835 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| GRCh37/hg19 2p25.3(chr2:10501-2386917)x1 |
copy number loss |
Intellectual disability, autosomal dominant 39 [RCV001801227] |
Chr2:10501..2386917 [GRCh37]
Chr2:2p25.3 |
pathogenic |
| NM_001303052.2(MYT1L):c.3081-15_3081-8dup |
duplication |
not provided [RCV001786270] |
Chr2:1809174..1809175 [GRCh38]
Chr2:1812946..1812947 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.2643-15C>T |
single nucleotide variant |
not provided [RCV001733456] |
Chr2:1886622 [GRCh38]
Chr2:1890394 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.2689G>A (p.Ala897Thr) |
single nucleotide variant |
not provided [RCV001771141] |
Chr2:1886561 [GRCh38]
Chr2:1890333 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.2166C>T (p.Tyr722=) |
single nucleotide variant |
not provided [RCV001766042] |
Chr2:1892154 [GRCh38]
Chr2:1895926 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.2775-59_2775-58dup |
duplication |
not provided [RCV001794669] |
Chr2:1840900..1840901 [GRCh38]
Chr2:1844672..1844673 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.2726del (p.Gly909fs) |
deletion |
Intellectual disability, autosomal dominant 39 [RCV001787689] |
Chr2:1851689 [GRCh38]
Chr2:1855461 [GRCh37]
Chr2:2p25.3 |
not provided |
| NM_001303052.2(MYT1L):c.2564G>A (p.Arg855Gln) |
single nucleotide variant |
MYT1L-related disorder [RCV003931334]|not provided [RCV001786932] |
Chr2:1887566 [GRCh38]
Chr2:1891338 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.3358G>C (p.Glu1120Gln) |
single nucleotide variant |
not provided [RCV001758361] |
Chr2:1792383 [GRCh38]
Chr2:1796155 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.113G>A (p.Gly38Asp) |
single nucleotide variant |
not provided [RCV001760959] |
Chr2:1979204 [GRCh38]
Chr2:1982976 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.3080+8343G>A |
single nucleotide variant |
not provided [RCV001815873] |
Chr2:1830806 [GRCh38]
Chr2:1834578 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.1947C>T (p.Asn649=) |
single nucleotide variant |
not provided [RCV001814911] |
Chr2:1903165 [GRCh38]
Chr2:1906937 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.2233G>T (p.Glu745Ter) |
single nucleotide variant |
not provided [RCV001896374] |
Chr2:1892087 [GRCh38]
Chr2:1895859 [GRCh37]
Chr2:2p25.3 |
pathogenic |
| NM_001303052.2(MYT1L):c.2712-8dup |
duplication |
not provided [RCV001837121] |
Chr2:1851710..1851711 [GRCh38]
Chr2:1855482..1855483 [GRCh37]
Chr2:2p25.3 |
likely benign |
| GRCh37/hg19 2p25.3(chr2:528352-2564992) |
copy number loss |
not specified [RCV002053012] |
Chr2:528352..2564992 [GRCh37]
Chr2:2p25.3 |
pathogenic |
| GRCh37/hg19 2p25.3(chr2:637829-1945590) |
copy number loss |
not specified [RCV002053023] |
Chr2:637829..1945590 [GRCh37]
Chr2:2p25.3 |
pathogenic |
| NM_001303052.2(MYT1L):c.3393C>A (p.Ser1131Arg) |
single nucleotide variant |
not provided [RCV001847443] |
Chr2:1792348 [GRCh38]
Chr2:1796120 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| GRCh37/hg19 2p25.3(chr2:1625269-2315044)x3 |
copy number gain |
not provided [RCV001832978] |
Chr2:1625269..2315044 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| GRCh37/hg19 2p25.3(chr2:1492690-2203775)x3 |
copy number gain |
not provided [RCV001834304] |
Chr2:1492690..2203775 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.2485C>T (p.Arg829Trp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 39 [RCV001823494] |
Chr2:1889276 [GRCh38]
Chr2:1893048 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.2030A>G (p.Asp677Gly) |
single nucleotide variant |
Intellectual disability, autosomal dominant 39 [RCV001844429] |
Chr2:1903082 [GRCh38]
Chr2:1906854 [GRCh37]
Chr2:2p25.3 |
not provided |
| NM_001303052.2(MYT1L):c.317A>G (p.Glu106Gly) |
single nucleotide variant |
not provided [RCV001888543] |
Chr2:1943170 [GRCh38]
Chr2:1946942 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.835A>G (p.Asn279Asp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 39 [RCV002503449]|not provided [RCV001900638] |
Chr2:1922934 [GRCh38]
Chr2:1926706 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.625G>A (p.Gly209Ser) |
single nucleotide variant |
not provided [RCV002034828] |
Chr2:1923144 [GRCh38]
Chr2:1926916 [GRCh37]
Chr2:2p25.3 |
likely pathogenic |
| NM_001303052.2(MYT1L):c.1574G>T (p.Arg525Leu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 39 [RCV002249108] |
Chr2:1917249 [GRCh38]
Chr2:1921021 [GRCh37]
Chr2:2p25.3 |
likely pathogenic |
| NM_001303052.2(MYT1L):c.557dup (p.Asp187fs) |
duplication |
Intellectual disability, autosomal dominant 39 [RCV002074462] |
Chr2:1923211..1923212 [GRCh38]
Chr2:1926983..1926984 [GRCh37]
Chr2:2p25.3 |
likely pathogenic |
| NM_001303052.2(MYT1L):c.3080+4214T>C |
single nucleotide variant |
not provided [RCV002214131] |
Chr2:1834935 [GRCh38]
Chr2:1838707 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.1573C>T (p.Arg525Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 39 [RCV002246693]|not provided [RCV002214132] |
Chr2:1917250 [GRCh38]
Chr2:1921022 [GRCh37]
Chr2:2p25.3 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_001303052.2(MYT1L):c.465_473del (p.Glu165_Glu167del) |
deletion |
not provided [RCV002244396] |
Chr2:1943014..1943022 [GRCh38]
Chr2:1946786..1946794 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.-521+4932G>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 39 [RCV002227650] |
Chr2:2326035 [GRCh38]
Chr2:2329807 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.289G>A (p.Glu97Lys) |
single nucleotide variant |
not provided [RCV003109948] |
Chr2:1943198 [GRCh38]
Chr2:1946970 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.1-10C>G |
single nucleotide variant |
not specified [RCV002250112] |
Chr2:1979787 [GRCh38]
Chr2:1983559 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.634G>A (p.Ala212Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 39 [RCV002272872]|Neurodevelopmental disorder [RCV003389079]|not provided [RCV003120869] |
Chr2:1923135 [GRCh38]
Chr2:1926907 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.505+33C>T |
single nucleotide variant |
not provided [RCV002248276] |
Chr2:1942949 [GRCh38]
Chr2:1946721 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.1184T>C (p.Val395Ala) |
single nucleotide variant |
Intellectual disability, autosomal dominant 39 [RCV002227728] |
Chr2:1922585 [GRCh38]
Chr2:1926357 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.2489G>A (p.Arg830Lys) |
single nucleotide variant |
not provided [RCV002273444] |
Chr2:1889272 [GRCh38]
Chr2:1893044 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.2850del (p.Glu950fs) |
deletion |
Neurodevelopmental delay [RCV002274396] |
Chr2:1840768 [GRCh38]
Chr2:1844540 [GRCh37]
Chr2:2p25.3 |
likely pathogenic |
| NM_001303052.2(MYT1L):c.3476A>G (p.Tyr1159Cys) |
single nucleotide variant |
not provided [RCV002269547] |
Chr2:1791952 [GRCh38]
Chr2:1795724 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.591C>G (p.Tyr197Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 39 [RCV002274462] |
Chr2:1923178 [GRCh38]
Chr2:1926950 [GRCh37]
Chr2:2p25.3 |
pathogenic |
| NM_001303052.2(MYT1L):c.2560A>G (p.Arg854Gly) |
single nucleotide variant |
not provided [RCV002267420] |
Chr2:1887570 [GRCh38]
Chr2:1891342 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.2753del (p.Gly918fs) |
deletion |
Neurodevelopmental delay [RCV002274397] |
Chr2:1851662 [GRCh38]
Chr2:1855434 [GRCh37]
Chr2:2p25.3 |
likely pathogenic |
| NM_001303052.2(MYT1L):c.1618_1618+1delinsC |
indel |
Intellectual disability, autosomal dominant 39 [RCV002291192] |
Chr2:1917204..1917205 [GRCh38]
Chr2:1920976..1920977 [GRCh37]
Chr2:2p25.3 |
likely pathogenic |
| NM_001303052.2(MYT1L):c.1890G>A (p.Pro630=) |
single nucleotide variant |
not provided [RCV002263199] |
Chr2:1903222 [GRCh38]
Chr2:1906994 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.1538G>T (p.Gly513Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 39 [RCV002267689] |
Chr2:1917285 [GRCh38]
Chr2:1921057 [GRCh37]
Chr2:2p25.3 |
likely pathogenic|uncertain significance |
| NM_001303052.2(MYT1L):c.-520G>A |
single nucleotide variant |
Intellectual disability, autosomal dominant 39 [RCV002266884] |
Chr2:2284503 [GRCh38]
Chr2:2288275 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.1808G>T (p.Arg603Leu) |
single nucleotide variant |
Syndromic intellectual disability [RCV002265539] |
Chr2:1910249 [GRCh38]
Chr2:1914021 [GRCh37]
Chr2:2p25.3 |
not provided |
| NM_001303052.2(MYT1L):c.3080+4198G>A |
single nucleotide variant |
not provided [RCV002263198] |
Chr2:1834951 [GRCh38]
Chr2:1838723 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.3080+4355_3080+4387del |
microsatellite |
not provided [RCV002263197] |
Chr2:1834762..1834794 [GRCh38]
Chr2:1838534..1838566 [GRCh37]
Chr2:2p25.3 |
benign|likely benign |
| NM_001303052.2(MYT1L):c.3530_3531del (p.Ile1177fs) |
microsatellite |
not provided [RCV002273617] |
Chr2:1791897..1791898 [GRCh38]
Chr2:1795669..1795670 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.3200A>T (p.Gln1067Leu) |
single nucleotide variant |
See cases [RCV004584542]|not provided [RCV002469465] |
Chr2:1801772 [GRCh38]
Chr2:1805544 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.157T>C (p.Tyr53His) |
single nucleotide variant |
not provided [RCV002281256] |
Chr2:1943330 [GRCh38]
Chr2:1947102 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.2012C>A (p.Ser671Tyr) |
single nucleotide variant |
not provided [RCV002269738] |
Chr2:1903100 [GRCh38]
Chr2:1906872 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.713A>G (p.Asp238Gly) |
single nucleotide variant |
not specified [RCV002283413] |
Chr2:1923056 [GRCh38]
Chr2:1926828 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.2608C>T (p.Pro870Ser) |
single nucleotide variant |
See cases [RCV002287766] |
Chr2:1887522 [GRCh38]
Chr2:1891294 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.2470A>T (p.Thr824Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002902126] |
Chr2:1889291 [GRCh38]
Chr2:1893063 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.-1+4A>C |
single nucleotide variant |
Intellectual disability, autosomal dominant 39 [RCV002472003] |
Chr2:1997187 [GRCh38]
Chr2:2000959 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| GRCh37/hg19 2p25.3(chr2:2310845-2355682)x1 |
copy number loss |
not provided [RCV002474673] |
Chr2:2310845..2355682 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3 |
copy number gain |
not provided [RCV002473946] |
Chr2:706460..35523639 [GRCh37]
Chr2:2p25.3-22.3 |
pathogenic |
| NM_001303052.2(MYT1L):c.2821C>T (p.Gln941Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 39 [RCV002465001] |
Chr2:1840797 [GRCh38]
Chr2:1844569 [GRCh37]
Chr2:2p25.3 |
pathogenic |
| NM_001303052.2(MYT1L):c.2519_2520+3del |
deletion |
Intellectual disability, autosomal dominant 39 [RCV002466908] |
Chr2:1889238..1889242 [GRCh38]
Chr2:1893010..1893014 [GRCh37]
Chr2:2p25.3 |
likely pathogenic |
| NM_001303052.2(MYT1L):c.1670G>T (p.Gly557Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 39 [RCV002465461] |
Chr2:1912059 [GRCh38]
Chr2:1915831 [GRCh37]
Chr2:2p25.3 |
likely pathogenic |
| GRCh37/hg19 2p25.3(chr2:12771-1947832)x1 |
copy number loss |
not provided [RCV002474573] |
Chr2:12771..1947832 [GRCh37]
Chr2:2p25.3 |
pathogenic |
| NM_001303052.2(MYT1L):c.3175A>G (p.Ile1059Val) |
single nucleotide variant |
not provided [RCV004588640] |
Chr2:1801797 [GRCh38]
Chr2:1805569 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.2622G>C (p.Glu874Asp) |
single nucleotide variant |
Intellectual disability, autosomal dominant 39 [RCV003131672] |
Chr2:1887508 [GRCh38]
Chr2:1891280 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.3014T>C (p.Met1005Thr) |
single nucleotide variant |
Intellectual disability, autosomal dominant 39 [RCV003131670] |
Chr2:1839215 [GRCh38]
Chr2:1842987 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.2052C>G (p.Asp684Glu) |
single nucleotide variant |
not provided [RCV002308768] |
Chr2:1892268 [GRCh38]
Chr2:1896040 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.2393C>G (p.Pro798Arg) |
single nucleotide variant |
not provided [RCV002300905] |
Chr2:1889368 [GRCh38]
Chr2:1893140 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.459AGAGGA[3] (p.Glu167_Asn168insGluGlu) |
microsatellite |
not provided [RCV002300867] |
Chr2:1943016..1943017 [GRCh38]
Chr2:1946788..1946789 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.2290G>C (p.Asp764His) |
single nucleotide variant |
Inborn genetic diseases [RCV002992007] |
Chr2:1889471 [GRCh38]
Chr2:1893243 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| GRCh37/hg19 2p25.3(chr2:1544766-2315044)x3 |
copy number gain |
not provided [RCV002475629] |
Chr2:1544766..2315044 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.3173-5T>G |
single nucleotide variant |
Inborn genetic diseases [RCV002864908] |
Chr2:1801804 [GRCh38]
Chr2:1805576 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.845A>G (p.Asp282Gly) |
single nucleotide variant |
not provided [RCV002462714] |
Chr2:1922924 [GRCh38]
Chr2:1926696 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.224G>A (p.Arg75Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002694383]|not provided [RCV003410245] |
Chr2:1943263 [GRCh38]
Chr2:1947035 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| GRCh37/hg19 2p25.3(chr2:2198678-2338333) |
copy number gain |
Intellectual disability [RCV002509890] |
Chr2:2198678..2338333 [GRCh37]
Chr2:2p25.3 |
pathogenic|low penetrance |
| GRCh37/hg19 2p25.3(chr2:1742241-1848126) |
copy number gain |
Intellectual disability [RCV002509891] |
Chr2:1742241..1848126 [GRCh37]
Chr2:2p25.3 |
pathogenic|low penetrance |
| GRCh37/hg19 2p25.3(chr2:1618581-1856549) |
copy number gain |
Intellectual disability [RCV002509892] |
Chr2:1618581..1856549 [GRCh37]
Chr2:2p25.3 |
pathogenic|low penetrance |
| GRCh37/hg19 2p25.3(chr2:1742240-1848126) |
copy number gain |
Intellectual disability [RCV002509893] |
Chr2:1742240..1848126 [GRCh37]
Chr2:2p25.3 |
pathogenic|low penetrance |
| NM_001303052.2(MYT1L):c.3547G>A (p.Gly1183Arg) |
single nucleotide variant |
not provided [RCV002509943] |
Chr2:1791881 [GRCh38]
Chr2:1795653 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| GRCh37/hg19 2p25.3(chr2:1905043-2216475) |
copy number gain |
Intellectual disability [RCV002509889] |
Chr2:1905043..2216475 [GRCh37]
Chr2:2p25.3 |
pathogenic|low penetrance |
| NM_001303052.2(MYT1L):c.21G>C (p.Glu7Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002693847]|Intellectual disability, autosomal dominant 39 [RCV003135271]|MYT1L-related disorder [RCV003918995] |
Chr2:1979757 [GRCh38]
Chr2:1983529 [GRCh37]
Chr2:2p25.3 |
likely benign|uncertain significance |
| NM_001303052.2(MYT1L):c.7G>A (p.Val3Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002758765] |
Chr2:1979771 [GRCh38]
Chr2:1983543 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.26G>A (p.Arg9Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002759234]|not provided [RCV003427683] |
Chr2:1979752 [GRCh38]
Chr2:1983524 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.869C>T (p.Ser290Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002950874] |
Chr2:1922900 [GRCh38]
Chr2:1926672 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.1112C>T (p.Thr371Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002743190] |
Chr2:1922657 [GRCh38]
Chr2:1926429 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.1412G>A (p.Arg471Lys) |
single nucleotide variant |
not provided [RCV002701489] |
Chr2:1922357 [GRCh38]
Chr2:1926129 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.1175G>A (p.Arg392Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002640968] |
Chr2:1922594 [GRCh38]
Chr2:1926366 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.2414A>C (p.Asn805Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002763961] |
Chr2:1889347 [GRCh38]
Chr2:1893119 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.2670_2671del (p.Ser891fs) |
deletion |
Inborn genetic diseases [RCV002809785] |
Chr2:1886579..1886580 [GRCh38]
Chr2:1890351..1890352 [GRCh37]
Chr2:2p25.3 |
pathogenic |
| NM_001303052.2(MYT1L):c.2624G>A (p.Ser875Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002769971] |
Chr2:1887506 [GRCh38]
Chr2:1891278 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.2112C>G (p.Ser704Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002878766] |
Chr2:1892208 [GRCh38]
Chr2:1895980 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.287C>T (p.Thr96Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002936188] |
Chr2:1943200 [GRCh38]
Chr2:1946972 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.575A>G (p.Asp192Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002879138] |
Chr2:1923194 [GRCh38]
Chr2:1926966 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.316G>A (p.Glu106Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002898267] |
Chr2:1943171 [GRCh38]
Chr2:1946943 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.2283+5G>A |
single nucleotide variant |
Inborn genetic diseases [RCV002678925] |
Chr2:1892032 [GRCh38]
Chr2:1895804 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.625G>C (p.Gly209Arg) |
single nucleotide variant |
not provided [RCV003129336] |
Chr2:1923144 [GRCh38]
Chr2:1926916 [GRCh37]
Chr2:2p25.3 |
likely pathogenic |
| NM_001303052.2(MYT1L):c.2293A>G (p.Met765Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 39 [RCV003131668] |
Chr2:1889468 [GRCh38]
Chr2:1893240 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.2530T>C (p.Leu844=) |
single nucleotide variant |
Intellectual disability, autosomal dominant 39 [RCV003132816] |
Chr2:1887600 [GRCh38]
Chr2:1891372 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.1276A>G (p.Met426Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 39 [RCV003131669] |
Chr2:1922493 [GRCh38]
Chr2:1926265 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.926G>A (p.Gly309Glu) |
single nucleotide variant |
Intellectual disability, autosomal dominant 39 [RCV003131671]|MYT1L-related disorder [RCV003906660] |
Chr2:1922843 [GRCh38]
Chr2:1926615 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.1968T>G (p.Tyr656Ter) |
single nucleotide variant |
not provided [RCV003218937] |
Chr2:1903144 [GRCh38]
Chr2:1906916 [GRCh37]
Chr2:2p25.3 |
pathogenic |
| NM_001303052.2(MYT1L):c.3427A>G (p.Ile1143Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003184271] |
Chr2:1792001 [GRCh38]
Chr2:1795773 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.2740G>C (p.Gly914Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003193957] |
Chr2:1851675 [GRCh38]
Chr2:1855447 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.2010_2025dup (p.Asp676delinsIleProGlnArgIleTer) |
duplication |
Intellectual disability, autosomal dominant 39 [RCV003226891] |
Chr2:1903086..1903087 [GRCh38]
Chr2:1906858..1906859 [GRCh37]
Chr2:2p25.3 |
likely pathogenic |
| NM_001303052.2(MYT1L):c.3080+4201_3080+4266del |
deletion |
not provided [RCV003223009] |
Chr2:1834883..1834948 [GRCh38]
Chr2:1838655..1838720 [GRCh37]
Chr2:2p25.3 |
benign|likely benign |
| NM_001303052.2(MYT1L):c.3196A>C (p.Lys1066Gln) |
single nucleotide variant |
Intellectual disability, autosomal dominant 39 [RCV003142642] |
Chr2:1801776 [GRCh38]
Chr2:1805548 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.304_306del (p.Lys102del) |
deletion |
not provided [RCV003228484] |
Chr2:1943181..1943183 [GRCh38]
Chr2:1946953..1946955 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.348G>T (p.Glu116Asp) |
single nucleotide variant |
not provided [RCV003228316] |
Chr2:1943139 [GRCh38]
Chr2:1946911 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.870GCA[1] (p.Gln292del) |
microsatellite |
not provided [RCV003319116] |
Chr2:1922894..1922896 [GRCh38]
Chr2:1926666..1926668 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.122A>G (p.His41Arg) |
single nucleotide variant |
not provided [RCV003322962] |
Chr2:1979195 [GRCh38]
Chr2:1982967 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.376G>A (p.Glu126Lys) |
single nucleotide variant |
not provided [RCV003319609] |
Chr2:1943111 [GRCh38]
Chr2:1946883 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.1751del (p.Lys584fs) |
deletion |
not provided [RCV003325403] |
Chr2:1910306 [GRCh38]
Chr2:1914078 [GRCh37]
Chr2:2p25.3 |
pathogenic |
| GRCh37/hg19 2p25.3(chr2:1560632-1855525)x3 |
copy number gain |
See cases [RCV003329508] |
Chr2:1560632..1855525 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.2008A>G (p.Ile670Val) |
single nucleotide variant |
not provided [RCV003329658] |
Chr2:1903104 [GRCh38]
Chr2:1906876 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.2422T>C (p.Cys808Arg) |
single nucleotide variant |
not provided [RCV003325644] |
Chr2:1889339 [GRCh38]
Chr2:1893111 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.3080+8315G>A |
single nucleotide variant |
not provided [RCV003425476] |
Chr2:1830834 [GRCh38]
Chr2:1834606 [GRCh37]
Chr2:2p25.3 |
benign|likely benign |
| NM_001303052.2(MYT1L):c.3080+1538G>A |
single nucleotide variant |
not provided [RCV003425478] |
Chr2:1837611 [GRCh38]
Chr2:1841383 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.2931G>A (p.Gly977=) |
single nucleotide variant |
not provided [RCV003425482] |
Chr2:1839298 [GRCh38]
Chr2:1843070 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.2084A>G (p.Tyr695Cys) |
single nucleotide variant |
not provided [RCV003328900] |
Chr2:1892236 [GRCh38]
Chr2:1896008 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.1174dup (p.Arg392fs) |
duplication |
not provided [RCV003327020] |
Chr2:1922594..1922595 [GRCh38]
Chr2:1926366..1926367 [GRCh37]
Chr2:2p25.3 |
pathogenic |
| NM_001303052.2(MYT1L):c.2944G>T (p.Ala982Ser) |
single nucleotide variant |
not specified [RCV003331753] |
Chr2:1839285 [GRCh38]
Chr2:1843057 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.1786A>C (p.Lys596Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003381188] |
Chr2:1910271 [GRCh38]
Chr2:1914043 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.2274C>A (p.Cys758Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 39 [RCV003333556] |
Chr2:1892046 [GRCh38]
Chr2:1895818 [GRCh37]
Chr2:2p25.3 |
likely pathogenic |
| GRCh37/hg19 2p25.3(chr2:1498592-2153497)x3 |
copy number gain |
not provided [RCV003484060] |
Chr2:1498592..2153497 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.3080+1488G>A |
single nucleotide variant |
not provided [RCV003407149] |
Chr2:1837661 [GRCh38]
Chr2:1841433 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.223C>T (p.Arg75Ter) |
single nucleotide variant |
not provided [RCV003443918] |
Chr2:1943264 [GRCh38]
Chr2:1947036 [GRCh37]
Chr2:2p25.3 |
pathogenic |
| GRCh37/hg19 2p25.3(chr2:1741828-1855259)x3 |
copy number gain |
not provided [RCV003484061] |
Chr2:1741828..1855259 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.3080+8283T>C |
single nucleotide variant |
not provided [RCV003457051] |
Chr2:1830866 [GRCh38]
Chr2:1834638 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.3080+1369A>G |
single nucleotide variant |
not provided [RCV003425479] |
Chr2:1837780 [GRCh38]
Chr2:1841552 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.590A>G (p.Tyr197Cys) |
single nucleotide variant |
MYT1L-related disorder [RCV003404695] |
Chr2:1923179 [GRCh38]
Chr2:1926951 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.533C>G (p.Thr178Ser) |
single nucleotide variant |
MYT1L-related disorder [RCV003406100] |
Chr2:1923236 [GRCh38]
Chr2:1927008 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.1468C>T (p.Pro490Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004364569]|not provided [RCV003425484] |
Chr2:1922301 [GRCh38]
Chr2:1926073 [GRCh37]
Chr2:2p25.3 |
likely benign|uncertain significance |
| NM_001303052.2(MYT1L):c.251_252delinsCA (p.Ser84Thr) |
indel |
MYT1L-related disorder [RCV003412249] |
Chr2:1943235..1943236 [GRCh38]
Chr2:1947007..1947008 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.3285G>A (p.Thr1095=) |
single nucleotide variant |
not provided [RCV003425475] |
Chr2:1792456 [GRCh38]
Chr2:1796228 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.2063GCA[3] (p.Ser691del) |
microsatellite |
not provided [RCV003443327] |
Chr2:1892246..1892248 [GRCh38]
Chr2:1896018..1896020 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.165T>A (p.Cys55Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 39 [RCV003405109] |
Chr2:1943322 [GRCh38]
Chr2:1947094 [GRCh37]
Chr2:2p25.3 |
pathogenic |
| NM_001303052.2(MYT1L):c.173C>T (p.Ala58Val) |
single nucleotide variant |
not provided [RCV003415494] |
Chr2:1943314 [GRCh38]
Chr2:1947086 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.2107C>G (p.Leu703Val) |
single nucleotide variant |
not provided [RCV003415493] |
Chr2:1892213 [GRCh38]
Chr2:1895985 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.2712-8489G>A |
single nucleotide variant |
not provided [RCV003415492] |
Chr2:1860192 [GRCh38]
Chr2:1863964 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.3080+4019C>T |
single nucleotide variant |
not provided [RCV003415491] |
Chr2:1835130 [GRCh38]
Chr2:1838902 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.3080+4073_3080+4105del |
deletion |
not provided [RCV003415490] |
Chr2:1835044..1835076 [GRCh38]
Chr2:1838816..1838848 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.3080+4049_3080+4147del |
deletion |
not provided [RCV003415489] |
Chr2:1835002..1835100 [GRCh38]
Chr2:1838774..1838872 [GRCh37]
Chr2:2p25.3 |
benign |
| NM_001303052.2(MYT1L):c.1875C>T (p.Val625=) |
single nucleotide variant |
not provided [RCV003457052] |
Chr2:1903237 [GRCh38]
Chr2:1907009 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.1037C>T (p.Pro346Leu) |
single nucleotide variant |
not provided [RCV004590762] |
Chr2:1922732 [GRCh38]
Chr2:1926504 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.3080+4168_3080+4200del |
microsatellite |
not provided [RCV003425477] |
Chr2:1834949..1834981 [GRCh38]
Chr2:1838721..1838753 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.3080+1356A>G |
single nucleotide variant |
not provided [RCV003425480] |
Chr2:1837793 [GRCh38]
Chr2:1841565 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.1296C>G (p.Thr432=) |
single nucleotide variant |
not provided [RCV003425485] |
Chr2:1922473 [GRCh38]
Chr2:1926245 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.687C>G (p.Thr229=) |
single nucleotide variant |
not provided [RCV003425486] |
Chr2:1923082 [GRCh38]
Chr2:1926854 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.216T>C (p.Ala72=) |
single nucleotide variant |
not provided [RCV003425487] |
Chr2:1943271 [GRCh38]
Chr2:1947043 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.3374G>A (p.Ser1125Asn) |
single nucleotide variant |
not provided [RCV003425474] |
Chr2:1792367 [GRCh38]
Chr2:1796139 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.3075C>T (p.His1025=) |
single nucleotide variant |
not provided [RCV003425481] |
Chr2:1839154 [GRCh38]
Chr2:1842926 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.2063G>C (p.Ser688Thr) |
single nucleotide variant |
not provided [RCV003425483] |
Chr2:1892257 [GRCh38]
Chr2:1896029 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.2T>A (p.Met1Lys) |
single nucleotide variant |
MYT1L-related disorder [RCV003410587] |
Chr2:1979776 [GRCh38]
Chr2:1983548 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| GRCh37/hg19 2p25.3(chr2:12770-2832894)x1 |
copy number loss |
Intellectual disability, autosomal dominant 39 [RCV003458261] |
Chr2:12770..2832894 [GRCh37]
Chr2:2p25.3 |
pathogenic |
| NM_001303052.2(MYT1L):c.3246G>A (p.Met1082Ile) |
single nucleotide variant |
MYT1L-related disorder [RCV003403109] |
Chr2:1801726 [GRCh38]
Chr2:1805498 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.3080+8229G>T |
single nucleotide variant |
not provided [RCV003407148] |
Chr2:1830920 [GRCh38]
Chr2:1834692 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NC_000002.12:g.(?_1852302)_(2191394_?)dup |
duplication |
Autism spectrum disorder [RCV003883240] |
Chr2:1852302..2191394 [GRCh38]
Chr2:2p25.3 |
likely pathogenic |
| NM_001303052.2(MYT1L):c.1423G>A (p.Gly475Arg) |
single nucleotide variant |
Intellectual disability, autosomal dominant 39 [RCV003493088] |
Chr2:1922346 [GRCh38]
Chr2:1926118 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.982G>T (p.Glu328Ter) |
single nucleotide variant |
Intellectual disability, autosomal dominant 39 [RCV003883383] |
Chr2:1922787 [GRCh38]
Chr2:1926559 [GRCh37]
Chr2:2p25.3 |
pathogenic |
| NM_001303052.2(MYT1L):c.1898A>G (p.Asn633Ser) |
single nucleotide variant |
not provided [RCV003677410] |
Chr2:1903214 [GRCh38]
Chr2:1906986 [GRCh37]
Chr2:2p25.3 |
likely pathogenic |
| GRCh37/hg19 2p25.3(chr2:1997884-2224132)x3 |
copy number gain |
not specified [RCV003986099] |
Chr2:1997884..2224132 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.2801A>G (p.Lys934Arg) |
single nucleotide variant |
MYT1L-related disorder [RCV003956649]|not provided [RCV003884027] |
Chr2:1840817 [GRCh38]
Chr2:1844589 [GRCh37]
Chr2:2p25.3 |
likely benign |
| GRCh37/hg19 2p25.3(chr2:1741885-1836994)x3 |
copy number gain |
not specified [RCV003986379] |
Chr2:1741885..1836994 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| GRCh37/hg19 2p25.3(chr2:1649820-2022213)x3 |
copy number gain |
not specified [RCV003987283] |
Chr2:1649820..2022213 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| GRCh37/hg19 2p25.3(chr2:2048610-2087077)x1 |
copy number loss |
not specified [RCV003986176] |
Chr2:2048610..2087077 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.1110G>T (p.Arg370Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004460517] |
Chr2:1922659 [GRCh38]
Chr2:1926431 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.1424G>A (p.Gly475Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004460532] |
Chr2:1922345 [GRCh38]
Chr2:1926117 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.26G>C (p.Arg9Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV004460581] |
Chr2:1979752 [GRCh38]
Chr2:1983524 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.3287T>C (p.Met1096Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004460605] |
Chr2:1792454 [GRCh38]
Chr2:1796226 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3 |
copy number gain |
See cases [RCV004442780] |
Chr2:12771..35541353 [GRCh37]
Chr2:2p25.3-22.3 |
pathogenic |
| NM_001303052.2(MYT1L):c.2486G>A (p.Arg829Gln) |
single nucleotide variant |
not provided [RCV004546309] |
Chr2:1889275 [GRCh38]
Chr2:1893047 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.2460C>T (p.Pro820=) |
single nucleotide variant |
Inborn genetic diseases [RCV004460558] |
Chr2:1889301 [GRCh38]
Chr2:1893073 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.2999T>C (p.Val1000Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004460598] |
Chr2:1839230 [GRCh38]
Chr2:1843002 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.3544A>G (p.Arg1182Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV004460612] |
Chr2:1791884 [GRCh38]
Chr2:1795656 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.529A>G (p.Asn177Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV004460620] |
Chr2:1923240 [GRCh38]
Chr2:1927012 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.1052C>T (p.Pro351Leu) |
single nucleotide variant |
MYT1L-related disorder [RCV003964688] |
Chr2:1922717 [GRCh38]
Chr2:1926489 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.578A>G (p.Glu193Gly) |
single nucleotide variant |
MYT1L-related disorder [RCV003983416] |
Chr2:1923191 [GRCh38]
Chr2:1926963 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.1023C>T (p.Leu341=) |
single nucleotide variant |
MYT1L-related disorder [RCV003921779] |
Chr2:1922746 [GRCh38]
Chr2:1926518 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.1073G>A (p.Arg358His) |
single nucleotide variant |
not provided [RCV003884270] |
Chr2:1922696 [GRCh38]
Chr2:1926468 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.2282G>A (p.Arg761Gln) |
single nucleotide variant |
MYT1L-related disorder [RCV003961517] |
Chr2:1892038 [GRCh38]
Chr2:1895810 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.503del (p.Asn168fs) |
deletion |
MYT1L-related disorder [RCV003976728] |
Chr2:1942984 [GRCh38]
Chr2:1946756 [GRCh37]
Chr2:2p25.3 |
pathogenic |
| NM_001303052.2(MYT1L):c.576C>T (p.Asp192=) |
single nucleotide variant |
MYT1L-related disorder [RCV003909569] |
Chr2:1923193 [GRCh38]
Chr2:1926965 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.2450G>A (p.Trp817Ter) |
single nucleotide variant |
not provided [RCV003887250] |
Chr2:1889311 [GRCh38]
Chr2:1893083 [GRCh37]
Chr2:2p25.3 |
pathogenic |
| NM_001303052.2(MYT1L):c.3125A>T (p.Lys1042Met) |
single nucleotide variant |
MYT1L-related disorder [RCV003899274] |
Chr2:1809123 [GRCh38]
Chr2:1812895 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.1639del (p.Val547fs) |
deletion |
Intellectual disability, autosomal dominant 39 [RCV003988617] |
Chr2:1912090 [GRCh38]
Chr2:1915862 [GRCh37]
Chr2:2p25.3 |
not provided |
| NM_001303052.2(MYT1L):c.3080+1360A>G |
single nucleotide variant |
not provided [RCV003884316] |
Chr2:1837789 [GRCh38]
Chr2:1841561 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.629A>G (p.Lys210Arg) |
single nucleotide variant |
MYT1L-related disorder [RCV003913839] |
Chr2:1923140 [GRCh38]
Chr2:1926912 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.2865G>A (p.Pro955=) |
single nucleotide variant |
MYT1L-related disorder [RCV003978991] |
Chr2:1839364 [GRCh38]
Chr2:1843136 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.296T>C (p.Met99Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004460593] |
Chr2:1943191 [GRCh38]
Chr2:1946963 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.647C>A (p.Ala216Asp) |
single nucleotide variant |
not specified [RCV004527260] |
Chr2:1923122 [GRCh38]
Chr2:1926894 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| GRCh37/hg19 2p25.3(chr2:11314-3033976)x1 |
copy number loss |
not provided [RCV004577472] |
Chr2:11314..3033976 [GRCh37]
Chr2:2p25.3 |
pathogenic |
| NM_001303052.2(MYT1L):c.338A>T (p.Asp113Val) |
single nucleotide variant |
Intellectual disability, autosomal dominant 39 [RCV004577272] |
Chr2:1943149 [GRCh38]
Chr2:1946921 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.1457A>G (p.His486Arg) |
single nucleotide variant |
not provided [RCV004573018] |
Chr2:1922312 [GRCh38]
Chr2:1926084 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| GRCh37/hg19 2p25.3(chr2:1798393-2162086)x3 |
copy number gain |
not provided [RCV004577456] |
Chr2:1798393..2162086 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.2752G>A (p.Gly918Ser) |
single nucleotide variant |
not provided [RCV004590846] |
Chr2:1851663 [GRCh38]
Chr2:1855435 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.412G>A (p.Glu138Lys) |
single nucleotide variant |
not specified [RCV004690805] |
Chr2:1943075 [GRCh38]
Chr2:1946847 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.3471A>C (p.Glu1157Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV004646065] |
Chr2:1791957 [GRCh38]
Chr2:1795729 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.3423T>A (p.Asp1141Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004652150] |
Chr2:1792005 [GRCh38]
Chr2:1795777 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.2230C>T (p.Arg744Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV004652152] |
Chr2:1892090 [GRCh38]
Chr2:1895862 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.2269C>G (p.Leu757Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004652153] |
Chr2:1892051 [GRCh38]
Chr2:1895823 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.2042A>G (p.Tyr681Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 39 [RCV004594742] |
Chr2:1892278 [GRCh38]
Chr2:1896050 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.1543G>T (p.Gly515Cys) |
single nucleotide variant |
Intellectual disability, autosomal dominant 39 [RCV004595006] |
Chr2:1917280 [GRCh38]
Chr2:1921052 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.377del (p.Glu126fs) |
deletion |
Intellectual disability, autosomal dominant 39 [RCV004595355] |
Chr2:1943110 [GRCh38]
Chr2:1946882 [GRCh37]
Chr2:2p25.3 |
pathogenic |
| NM_001303052.2(MYT1L):c.898G>A (p.Val300Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004652149] |
Chr2:1922871 [GRCh38]
Chr2:1926643 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.1433G>A (p.Arg478Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV004652151] |
Chr2:1922336 [GRCh38]
Chr2:1926108 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.394del (p.Glu132fs) |
deletion |
Autism [RCV004698671] |
Chr2:1943093 [GRCh38]
Chr2:1946865 [GRCh37]
Chr2:2p25.3 |
pathogenic |
| NM_001303052.2(MYT1L):c.68C>G (p.Pro23Arg) |
single nucleotide variant |
not provided [RCV004762701] |
|
uncertain significance |
| NM_001303052.2(MYT1L):c.2257A>C (p.Lys753Gln) |
single nucleotide variant |
not provided [RCV004722149] |
Chr2:1892063 [GRCh38]
Chr2:1895835 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.2223G>A (p.Thr741=) |
single nucleotide variant |
MYT1L-related disorder [RCV004753914] |
Chr2:1892097 [GRCh38]
Chr2:1895869 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2:g.(?_1851612)_(1943337_?)del |
deletion |
Intellectual disability, autosomal dominant 39 [RCV004723649] |
|
likely pathogenic |
| NM_001303052.2(MYT1L):c.2663C>T (p.Ala888Val) |
single nucleotide variant |
not provided [RCV004760942] |
|
uncertain significance |
| NM_001303052.2(MYT1L):c.3537G>C (p.Gln1179His) |
single nucleotide variant |
not provided [RCV004763904] |
|
uncertain significance |
| NM_001303052.2(MYT1L):c.1-9_1-6del |
deletion |
not provided [RCV004763936] |
|
uncertain significance |
| NM_001303052.2(MYT1L):c.3217A>C (p.Lys1073Gln) |
single nucleotide variant |
MYT1L-related disorder [RCV004753778] |
Chr2:1801755 [GRCh38]
Chr2:1805527 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.293A>G (p.Asp98Gly) |
single nucleotide variant |
MYT1L-related disorder [RCV004753801] |
Chr2:1943194 [GRCh38]
Chr2:1946966 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.1353G>A (p.Lys451=) |
single nucleotide variant |
MYT1L-related disorder [RCV004753834] |
Chr2:1922416 [GRCh38]
Chr2:1926188 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.3277-9G>A |
single nucleotide variant |
MYT1L-related disorder [RCV004753990] |
Chr2:1792473 [GRCh38]
Chr2:1796245 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.2442C>T (p.Gly814=) |
single nucleotide variant |
MYT1L-related disorder [RCV004754028] |
Chr2:1889319 [GRCh38]
Chr2:1893091 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.1877C>T (p.Pro626Leu) |
single nucleotide variant |
not provided [RCV004726173] |
Chr2:1903235 [GRCh38]
Chr2:1907007 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.1803G>A (p.Ser601=) |
single nucleotide variant |
not provided [RCV004722464] |
Chr2:1910254 [GRCh38]
Chr2:1914026 [GRCh37]
Chr2:2p25.3 |
likely benign |
| NM_001303052.2(MYT1L):c.1483G>A (p.Asp495Asn) |
single nucleotide variant |
not provided [RCV004770595] |
Chr2:1922286 [GRCh38]
Chr2:1926058 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.2333A>G (p.Asn778Ser) |
single nucleotide variant |
not provided [RCV004761185] |
|
uncertain significance |
| NM_001303052.2(MYT1L):c.744G>C (p.Glu248Asp) |
single nucleotide variant |
not provided [RCV004761468] |
|
uncertain significance |
| NM_001303052.2(MYT1L):c.189del (p.Gln64fs) |
deletion |
MYT1L-related disorder [RCV004753820] |
Chr2:1943298 [GRCh38]
Chr2:1947070 [GRCh37]
Chr2:2p25.3 |
likely pathogenic |
| NM_001303052.2(MYT1L):c.805G>A (p.Ala269Thr) |
single nucleotide variant |
not provided [RCV004775958] |
Chr2:1922964 [GRCh38]
Chr2:1926736 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.2318T>C (p.Leu773Pro) |
single nucleotide variant |
not provided [RCV004772701] |
Chr2:1889443 [GRCh38]
Chr2:1893215 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
| NM_001303052.2(MYT1L):c.134A>G (p.Lys45Arg) |
single nucleotide variant |
not provided [RCV004774040] |
Chr2:1979183 [GRCh38]
Chr2:1982955 [GRCh37]
Chr2:2p25.3 |
uncertain significance |
