NC_000018.10:g.(?_55228205)_(55635917_?)del |
deletion |
Pitt-Hopkins syndrome [RCV000544328] |
Chr18:55228205..55635917 [GRCh38] Chr18:52895436..53303148 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1251C>T (p.Asp417=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000558983] |
Chr18:55254596 [GRCh38] Chr18:52921827 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.790-4A>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000542214] |
Chr18:55269967 [GRCh38] Chr18:52937198 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1239dup (p.Gly414fs) |
duplication |
not provided [RCV000519948] |
Chr18:55254607..55254608 [GRCh38] Chr18:52921838..52921839 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1738C>T (p.Arg580Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV001266245]|Pitt-Hopkins syndrome [RCV000007795]|Severe intellectual deficiency [RCV000415008]|not provided [RCV000387138] |
Chr18:55228988 [GRCh38] Chr18:52896219 [GRCh37] Chr18:18q21.2 |
pathogenic|likely pathogenic |
NM_001083962.2(TCF4):c.1739G>A (p.Arg580Gln) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000007796]|not provided [RCV000189725] |
Chr18:55228987 [GRCh38] Chr18:52896218 [GRCh37] Chr18:18q21.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_001083962.2(TCF4):c.1153C>T (p.Arg385Ter) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000007797]|Pitt-Hopkins syndrome [RCV001249620]|not provided [RCV000255339] |
Chr18:55254694 [GRCh38] Chr18:52921925 [GRCh37] Chr18:18q21.2 |
pathogenic |
TCF4, IVS9AS, G-C, -1 |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000007798] |
Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1733G>C (p.Arg578Pro) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000007799] |
Chr18:55228993 [GRCh38] Chr18:52896224 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.908del (p.Thr303fs) |
deletion |
Pitt-Hopkins syndrome [RCV000007800] |
Chr18:55269845 [GRCh38] Chr18:52937076 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.470G>A (p.Arg157Gln) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001518888] |
Chr18:55350903 [GRCh38] Chr18:53018134 [GRCh37] Chr18:18q21.2 |
benign|uncertain significance |
NM_001083962.2(TCF4):c.209A>G (p.Asn70Ser) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000546702] |
Chr18:55461114 [GRCh38] Chr18:53128345 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.145+1G>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000519390] |
Chr18:55585279 [GRCh38] Chr18:53252510 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.146A>G (p.Asn49Ser) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001450291] |
Chr18:55464137 [GRCh38] Chr18:53131368 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.902A>G (p.Asn301Ser) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003617821]|not provided [RCV001696929] |
Chr18:55269851 [GRCh38] Chr18:52937082 [GRCh37] Chr18:18q21.2 |
likely benign|uncertain significance |
NM_001083962.1(TCF4):c.145+4355A>G |
single nucleotide variant |
Lung cancer [RCV000100891] |
Chr18:55580925 [GRCh38] Chr18:53248156 [GRCh37] Chr18:18q21.2 |
uncertain significance |
GRCh38/hg38 18q21.2(chr18:54291850-55754281)x1 |
copy number loss |
See cases [RCV000050961] |
Chr18:54291850..55754281 [GRCh38] Chr18:51818220..53421512 [GRCh37] Chr18:50072218..51572510 [NCBI36] Chr18:18q21.2 |
pathogenic |
GRCh38/hg38 18q21.1-23(chr18:50068129-80252149)x3 |
copy number gain |
See cases [RCV000050989] |
Chr18:50068129..80252149 [GRCh38] Chr18:47594499..78010032 [GRCh37] Chr18:45848497..76111023 [NCBI36] Chr18:18q21.1-23 |
pathogenic |
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 |
copy number gain |
See cases [RCV000051048] |
Chr18:148963..80252149 [GRCh38] Chr18:148963..78010032 [GRCh37] Chr18:138963..76111023 [NCBI36] Chr18:18p11.32-q23 |
pathogenic |
GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3 |
copy number gain |
See cases [RCV000052543] |
Chr18:20960320..80234429 [GRCh38] Chr18:18540281..77992312 [GRCh37] Chr18:16794279..76093303 [NCBI36] Chr18:18q11.1-23 |
pathogenic |
GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3 |
copy number gain |
See cases [RCV000052501] |
Chr18:53345..80209986 [GRCh38] Chr18:53345..77967869 [GRCh37] Chr18:43345..76068860 [NCBI36] Chr18:18p11.32-q23 |
pathogenic |
GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3 |
copy number gain |
See cases [RCV000052549] |
Chr18:20989762..80209986 [GRCh38] Chr18:18569723..77967869 [GRCh37] Chr18:16823721..76068860 [NCBI36] Chr18:18q11.1-23 |
pathogenic |
GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3 |
copy number gain |
See cases [RCV000052507] |
Chr18:148763..80252290 [GRCh38] Chr18:148763..78010173 [GRCh37] Chr18:138763..76111164 [NCBI36] Chr18:18p11.32-q23 |
pathogenic |
GRCh38/hg38 18q12.1-22.1(chr18:29249202-65448117)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|See cases [RCV000052563] |
Chr18:29249202..65448117 [GRCh38] Chr18:26829167..63115353 [GRCh37] Chr18:25083165..61266333 [NCBI36] Chr18:18q12.1-22.1 |
pathogenic |
GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3 |
copy number gain |
See cases [RCV000052514] |
Chr18:148963..80244381 [GRCh38] Chr18:148963..78002264 [GRCh37] Chr18:138963..76103255 [NCBI36] Chr18:18p11.32-q23 |
pathogenic |
GRCh38/hg38 18q21.2(chr18:55303869-55536679)x3 |
copy number gain |
See cases [RCV000052571] |
Chr18:55303869..55536679 [GRCh38] Chr18:52971100..53203910 [GRCh37] Chr18:51122098..51354908 [NCBI36] Chr18:18q21.2 |
pathogenic |
GRCh38/hg38 18q21.2-23(chr18:53637007-80252149)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053869]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053869]|See cases [RCV000053869] |
Chr18:53637007..80252149 [GRCh38] Chr18:51163377..78010032 [GRCh37] Chr18:49417375..76111023 [NCBI36] Chr18:18q21.2-23 |
pathogenic |
GRCh38/hg38 18q21.2-21.31(chr18:54417453-57347792)x1 |
copy number loss |
See cases [RCV000053870] |
Chr18:54417453..57347792 [GRCh38] Chr18:51943823..55015023 [GRCh37] Chr18:50197821..53166021 [NCBI36] Chr18:18q21.2-21.31 |
pathogenic |
GRCh38/hg38 18q21.2(chr18:55339930-55500526)x1 |
copy number loss |
See cases [RCV000053871] |
Chr18:55339930..55500526 [GRCh38] Chr18:53007161..53167757 [GRCh37] Chr18:51158159..51318755 [NCBI36] Chr18:18q21.2 |
pathogenic |
GRCh38/hg38 18q21.2-21.31(chr18:55575588-57207463)x1 |
copy number loss |
See cases [RCV000053872] |
Chr18:55575588..57207463 [GRCh38] Chr18:53242819..54874694 [GRCh37] Chr18:51393817..53025692 [NCBI36] Chr18:18q21.2-21.31 |
pathogenic |
GRCh38/hg38 18q21.2-23(chr18:51605752-80252149)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053834]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053834]|See cases [RCV000053834] |
Chr18:51605752..80252149 [GRCh38] Chr18:49132122..78010032 [GRCh37] Chr18:47386120..76111023 [NCBI36] Chr18:18q21.2-23 |
pathogenic |
GRCh38/hg38 18q21.2(chr18:51875428-55658999)x1 |
copy number loss |
See cases [RCV000053835] |
Chr18:51875428..55658999 [GRCh38] Chr18:49401798..53326230 [GRCh37] Chr18:47655796..51477228 [NCBI36] Chr18:18q21.2 |
pathogenic |
GRCh38/hg38 18q21.2-22.1(chr18:52156899-65408762)x1 |
copy number loss |
See cases [RCV000053836] |
Chr18:52156899..65408762 [GRCh38] Chr18:49683269..63075998 [GRCh37] Chr18:47937267..61226978 [NCBI36] Chr18:18q21.2-22.1 |
pathogenic |
NM_001083962.2(TCF4):c.1169del (p.Arg389_Leu390insTer) |
deletion |
Pitt-Hopkins syndrome [RCV000660296] |
Chr18:55254678 [GRCh38] Chr18:52921909 [GRCh37] Chr18:18q21.2 |
pathogenic|likely pathogenic |
NM_001083962.2(TCF4):c.1066_1067dup (p.Ala357fs) |
microsatellite |
Pitt-Hopkins syndrome [RCV000660295] |
Chr18:55259950..55259951 [GRCh38] Chr18:52927181..52927182 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.1086G>A (p.Trp362Ter) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001507025]|not provided [RCV000494225] |
Chr18:55257375 [GRCh38] Chr18:52924606 [GRCh37] Chr18:18q21.2 |
pathogenic|likely pathogenic |
NM_001083962.2(TCF4):c.1419G>C (p.Pro473=) |
single nucleotide variant |
Inborn genetic diseases [RCV002313753]|Pitt-Hopkins syndrome [RCV000341338]|not provided [RCV003333955]|not specified [RCV000173028] |
Chr18:55234615 [GRCh38] Chr18:52901846 [GRCh37] Chr18:18q21.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
NM_001083962.2(TCF4):c.1733G>A (p.Arg578His) |
single nucleotide variant |
Inborn genetic diseases [RCV002515762]|Microcephaly [RCV001003999]|Pitt-Hopkins syndrome [RCV000079458]|Pitt-Hopkins syndrome [RCV003883128]|TCF4-related disorder [RCV003398670]|not provided [RCV000189738] |
Chr18:55228993 [GRCh38] Chr18:52896224 [GRCh37] Chr18:18q21.2 |
pathogenic|likely pathogenic |
NM_001083962.2(TCF4):c.1923G>A (p.Glu641=) |
single nucleotide variant |
Inborn genetic diseases [RCV002313754]|Pitt-Hopkins syndrome [RCV000280945]|not provided [RCV000858710]|not specified [RCV000150096] |
Chr18:55228318 [GRCh38] Chr18:52895549 [GRCh37] Chr18:18q21.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
NM_001083962.2(TCF4):c.1941A>G (p.Ser647=) |
single nucleotide variant |
Corneal dystrophy, Fuchs endothelial, 3 [RCV001815179]|Inborn genetic diseases [RCV002311572]|Pitt-Hopkins syndrome [RCV000405030]|not provided [RCV000713808]|not specified [RCV000079460] |
Chr18:55228300 [GRCh38] Chr18:55228300..55228301 [GRCh38] Chr18:52895531 [GRCh37] Chr18:52895531..52895532 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.514_517del (p.Lys172fs) |
microsatellite |
Intellectual disability [RCV000224701]|Neurodevelopmental disorder [RCV001374933]|Pitt-Hopkins syndrome [RCV000995665]|not provided [RCV000255366] |
Chr18:55350391..55350394 [GRCh38] Chr18:53017622..53017625 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1147-17C>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002066799]|not specified [RCV000602833] |
Chr18:55254717 [GRCh38] Chr18:52921948 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.922+1G>A |
single nucleotide variant |
not provided [RCV002292969] |
Chr18:55269830 [GRCh38] Chr18:52937061 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1086del (p.Trp362fs) |
deletion |
Pitt-Hopkins syndrome [RCV001374737] |
Chr18:55257375 [GRCh38] Chr18:52924606 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.208-8A>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000274074]|not specified [RCV000186668] |
Chr18:55461123 [GRCh38] Chr18:53128354 [GRCh37] Chr18:18q21.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters |
NM_001083962.2(TCF4):c.305-14G>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000270149]|not specified [RCV000128379] |
Chr18:55403532 [GRCh38] Chr18:53070763 [GRCh37] Chr18:18q21.2 |
benign|likely benign |
NM_001083962.2(TCF4):c.504A>G (p.Val168=) |
single nucleotide variant |
Inborn genetic diseases [RCV002316427]|Pitt-Hopkins syndrome [RCV001082033]|TCF4-related disorder [RCV003935209]|not provided [RCV000727317]|not specified [RCV000128380] |
Chr18:55350404 [GRCh38] Chr18:53017635 [GRCh37] Chr18:18q21.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001083962.2(TCF4):c.936C>T (p.Ser312=) |
single nucleotide variant |
Inborn genetic diseases [RCV002316428]|Pitt-Hopkins syndrome [RCV000358759]|not provided [RCV001725997]|not specified [RCV000128381] |
Chr18:55261520 [GRCh38] Chr18:52928751 [GRCh37] Chr18:18q21.2 |
benign|likely benign |
NM_001083962.2(TCF4):c.966T>C (p.Asp322=) |
single nucleotide variant |
Inborn genetic diseases [RCV002381446]|Pitt-Hopkins syndrome [RCV000544388]|not provided [RCV001172125]|not specified [RCV000128382] |
Chr18:55261490 [GRCh38] Chr18:52928721 [GRCh37] Chr18:18q21.2 |
benign|likely benign |
NM_001083962.2(TCF4):c.1299G>A (p.Leu433=) |
single nucleotide variant |
Inborn genetic diseases [RCV002316917]|Pitt-Hopkins syndrome [RCV000537601]|not provided [RCV001701765]|not specified [RCV000128383] |
Chr18:55254548 [GRCh38] Chr18:52921779 [GRCh37] Chr18:18q21.2 |
benign|likely benign |
NM_001083962.2(TCF4):c.1351-19G>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002515920]|See cases [RCV003231159]|not provided [RCV002292475]|not specified [RCV000128384] |
Chr18:55234702 [GRCh38] Chr18:52901933 [GRCh37] Chr18:18q21.2 |
benign|likely benign |
NM_001083962.2(TCF4):c.1551C>T (p.Asp517=) |
single nucleotide variant |
Inborn genetic diseases [RCV002399506]|Pitt-Hopkins syndrome [RCV000525641]|not provided [RCV003221819]|not specified [RCV000128385] |
Chr18:55232607 [GRCh38] Chr18:52899838 [GRCh37] Chr18:18q21.2 |
benign|likely benign |
NM_001083962.2(TCF4):c.1650-14C>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002055838]|not provided [RCV003422019]|not specified [RCV000128386] |
Chr18:55229090 [GRCh38] Chr18:52896321 [GRCh37] Chr18:18q21.2 |
benign|likely benign |
NM_001083962.2(TCF4):c.1905G>A (p.Ala635=) |
single nucleotide variant |
Inborn genetic diseases [RCV002312953]|Pitt-Hopkins syndrome [RCV000338311]|not provided [RCV000713807]|not specified [RCV000128387] |
Chr18:55228336 [GRCh38] Chr18:52895567 [GRCh37] Chr18:18q21.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_001083962.2(TCF4):c.1995G>A (p.Ser665=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000869521]|not specified [RCV000128389] |
Chr18:55228246 [GRCh38] Chr18:52895477 [GRCh37] Chr18:18q21.2 |
benign|likely benign |
NM_001083962.2(TCF4):c.*5-10C>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000348746]|Pitt-Hopkins syndrome [RCV002477340]|not provided [RCV004709340]|not specified [RCV000128390] |
Chr18:55228040 [GRCh38] Chr18:52895271 [GRCh37] Chr18:18q21.2 |
benign|likely benign |
NM_001083962.1(TCF4):c.22G>A (p.Ala8Thr) |
single nucleotide variant |
not provided [RCV000128391] |
Chr18:55587095 [GRCh38] Chr18:53254326 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.73-3T>C |
single nucleotide variant |
Inborn genetic diseases [RCV002316918]|Pitt-Hopkins syndrome [RCV000331537]|not provided [RCV003422020]|not specified [RCV000177114] |
Chr18:55585355 [GRCh38] Chr18:53252586 [GRCh37] Chr18:18q21.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_001083962.2(TCF4):c.968C>T (p.Ala323Val) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000190500] |
Chr18:55261488 [GRCh38] Chr18:52928719 [GRCh37] Chr18:18q21.2 |
pathogenic|likely pathogenic |
NM_001083962.2(TCF4):c.1417C>T (p.Pro473Ser) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001349104] |
Chr18:55234617 [GRCh38] Chr18:52901848 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1357dup (p.Thr453fs) |
duplication |
not provided [RCV000153999] |
Chr18:55234676..55234677 [GRCh38] Chr18:52901907..52901908 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1245T>C (p.His415=) |
single nucleotide variant |
Inborn genetic diseases [RCV002390426]|Pitt-Hopkins syndrome [RCV002517681]|TCF4-related disorder [RCV003895184]|not provided [RCV000724844]|not specified [RCV000174858] |
Chr18:55254602 [GRCh38] Chr18:52921833 [GRCh37] Chr18:18q21.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001083962.2(TCF4):c.*4+30C>T |
single nucleotide variant |
not specified [RCV000147711] |
Chr18:55228191 [GRCh38] Chr18:52895422 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1146+1G>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000147712] |
Chr18:55257314 [GRCh38] Chr18:52924545 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1350G>A (p.Met450Ile) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000147713] |
Chr18:55254497 [GRCh38] Chr18:52921728 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1498G>T (p.Gly500Ter) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000147715] |
Chr18:55232660 [GRCh38] Chr18:52899891 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1741G>T (p.Val581Phe) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000147716] |
Chr18:55228985 [GRCh38] Chr18:52896216 [GRCh37] Chr18:18q21.2 |
likely pathogenic|conflicting interpretations of pathogenicity |
NM_001083962.2(TCF4):c.1777_1779del (p.Arg593del) |
deletion |
Pitt-Hopkins syndrome [RCV000147717] |
Chr18:55228947..55228949 [GRCh38] Chr18:52896178..52896180 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1840G>C (p.Ala614Pro) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000147718] |
Chr18:55228886 [GRCh38] Chr18:52896117 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.223A>G (p.Thr75Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002316954]|Pitt-Hopkins syndrome [RCV002515988]|not specified [RCV000147720] |
Chr18:55461100 [GRCh38] Chr18:53128331 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.305-165C>T |
single nucleotide variant |
Corneal dystrophy, Fuchs endothelial, 3 [RCV001815203]|Pitt-Hopkins syndrome [RCV001815202]|not provided [RCV000834287]|not specified [RCV000147721] |
Chr18:55403683 [GRCh38] Chr18:53070914 [GRCh37] Chr18:18q21.2 |
benign|likely benign |
NM_001083962.2(TCF4):c.415del (p.Leu139fs) |
deletion |
Pitt-Hopkins syndrome [RCV000147722] |
Chr18:55350958 [GRCh38] Chr18:53018189 [GRCh37] Chr18:18q21.2 |
pathogenic|likely pathogenic |
NM_001083962.2(TCF4):c.469C>T (p.Arg157Ter) |
single nucleotide variant |
Autism spectrum disorder [RCV003313939]|Pitt-Hopkins syndrome [RCV000147723]|not provided [RCV000484787] |
Chr18:55350904 [GRCh38] Chr18:53018135 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.655+1G>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000147724] |
Chr18:55279550 [GRCh38] Chr18:52946781 [GRCh37] Chr18:18q21.2 |
pathogenic|likely pathogenic |
NM_001083962.2(TCF4):c.656-1G>C |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000147725] |
Chr18:55275753 [GRCh38] Chr18:52942984 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.656-3C>T |
single nucleotide variant |
not specified [RCV000147726] |
Chr18:55275755 [GRCh38] Chr18:52942986 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.789+23C>T |
single nucleotide variant |
Corneal dystrophy, Fuchs endothelial, 3 [RCV001815205]|Pitt-Hopkins syndrome [RCV001815204]|not provided [RCV000829619]|not specified [RCV000147727] |
Chr18:55275596 [GRCh38] Chr18:55275596..55275597 [GRCh38] Chr18:52942827 [GRCh37] Chr18:52942827..52942828 [GRCh37] Chr18:18q21.2 |
benign|likely benign |
NM_001083962.2(TCF4):c.791del (p.Ser264fs) |
deletion |
Pitt-Hopkins syndrome [RCV000147728] |
Chr18:55269962 [GRCh38] Chr18:52937193 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.944C>T (p.Ala315Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002316955]|Pitt-Hopkins syndrome [RCV001084639]|TCF4-related disorder [RCV003965112]|not provided [RCV000422948]|not specified [RCV000147729] |
Chr18:55261512 [GRCh38] Chr18:52928743 [GRCh37] Chr18:18q21.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001083962.2(TCF4):c.990G>A (p.Ser330=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000147730]|not provided [RCV000521305] |
Chr18:55261466 [GRCh38] Chr18:52928697 [GRCh37] Chr18:18q21.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_001083962.2(TCF4):c.991-2A>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000147731] |
Chr18:55260029 [GRCh38] Chr18:52927260 [GRCh37] Chr18:18q21.2 |
pathogenic |
GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3 |
copy number gain |
See cases [RCV000134110] |
Chr18:149089..80234391 [GRCh38] Chr18:149089..77992274 [GRCh37] Chr18:139089..76093265 [NCBI36] Chr18:18p11.32-q23 |
pathogenic |
GRCh38/hg38 18q21.2(chr18:55092114-55294739)x1 |
copy number loss |
See cases [RCV000134921] |
Chr18:55092114..55294739 [GRCh38] Chr18:52759345..52961970 [GRCh37] Chr18:50910343..51112968 [NCBI36] Chr18:18q21.2 |
pathogenic |
GRCh38/hg38 18q21.2(chr18:54747628-55294739)x3 |
copy number gain |
See cases [RCV000135632] |
Chr18:54747628..55294739 [GRCh38] Chr18:52414859..52961970 [GRCh37] Chr18:50565857..51112968 [NCBI36] Chr18:18q21.2 |
uncertain significance |
GRCh38/hg38 18q21.2-23(chr18:51190429-80252149)x1 |
copy number loss |
See cases [RCV000135413] |
Chr18:51190429..80252149 [GRCh38] Chr18:48716799..78010032 [GRCh37] Chr18:46970797..76111023 [NCBI36] Chr18:18q21.2-23 |
pathogenic |
GRCh38/hg38 18q21.2-21.32(chr18:54857756-60590631)x1 |
copy number loss |
See cases [RCV000136501] |
Chr18:54857756..60590631 [GRCh38] Chr18:52524987..58257864 [GRCh37] Chr18:50675985..56408844 [NCBI36] Chr18:18q21.2-21.32 |
pathogenic |
GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3 |
copy number gain |
See cases [RCV000136910] |
Chr18:38794728..65632804 [GRCh38] Chr18:36374692..63300040 [GRCh37] Chr18:34628690..61451020 [NCBI36] Chr18:18q12.2-22.1 |
pathogenic |
GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3 |
copy number gain |
See cases [RCV000136890] |
Chr18:32123105..80252149 [GRCh38] Chr18:29703068..78010032 [GRCh37] Chr18:27957066..76111023 [NCBI36] Chr18:18q12.1-23 |
pathogenic |
GRCh38/hg38 18q21.2-23(chr18:53865057-80252149)x1 |
copy number loss |
See cases [RCV000136674] |
Chr18:53865057..80252149 [GRCh38] Chr18:51391427..78010032 [GRCh37] Chr18:49645425..76111023 [NCBI36] Chr18:18q21.2-23 |
pathogenic |
GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3 |
copy number gain |
See cases [RCV000137342] |
Chr18:49199411..80254946 [GRCh38] Chr18:46725781..78012829 [GRCh37] Chr18:44979779..76113817 [NCBI36] Chr18:18q21.1-23 |
pathogenic |
GRCh38/hg38 18q21.2-23(chr18:55179364-80254946)x1 |
copy number loss |
See cases [RCV000137375] |
Chr18:55179364..80254946 [GRCh38] Chr18:52846595..78012829 [GRCh37] Chr18:50997593..76113817 [NCBI36] Chr18:18q21.2-23 |
pathogenic |
GRCh38/hg38 18q21.2(chr18:54468297-55949009)x1 |
copy number loss |
See cases [RCV000137301] |
Chr18:54468297..55949009 [GRCh38] Chr18:51994667..53616240 [GRCh37] Chr18:50248665..51767238 [NCBI36] Chr18:18q21.2 |
pathogenic |
GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3 |
copy number gain |
See cases [RCV000138034] |
Chr18:42651392..80254946 [GRCh38] Chr18:40231357..78012829 [GRCh37] Chr18:38485355..76113817 [NCBI36] Chr18:18q12.3-23 |
pathogenic |
GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3 |
copy number gain |
See cases [RCV000138656] |
Chr18:118760..80254946 [GRCh38] Chr18:118760..78012829 [GRCh37] Chr18:108760..76113817 [NCBI36] Chr18:18p11.32-q23 |
pathogenic|conflicting data from submitters |
GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3 |
copy number gain |
See cases [RCV000139397] |
Chr18:149089..80254936 [GRCh38] Chr18:149089..78012819 [GRCh37] Chr18:139089..76113807 [NCBI36] Chr18:18p11.32-q23 |
pathogenic |
NM_001083962.2(TCF4):c.*1A>G |
single nucleotide variant |
not provided [RCV000175407] |
Chr18:55228224 [GRCh38] Chr18:52895455 [GRCh37] Chr18:18q21.2 |
uncertain significance |
GRCh38/hg38 18q21.2-23(chr18:52421052-80254946)x1 |
copy number loss |
See cases [RCV000139134] |
Chr18:52421052..80254946 [GRCh38] Chr18:49947422..78012829 [GRCh37] Chr18:48201420..76113817 [NCBI36] Chr18:18q21.2-23 |
pathogenic |
GRCh38/hg38 18q21.2-23(chr18:53959828-80254936)x3 |
copy number gain |
See cases [RCV000139496] |
Chr18:53959828..80254936 [GRCh38] Chr18:51486198..78012819 [GRCh37] Chr18:49740196..76113807 [NCBI36] Chr18:18q21.2-23 |
pathogenic |
GRCh38/hg38 18q21.2-23(chr18:51167159-80256240)x1 |
copy number loss |
See cases [RCV000140925] |
Chr18:51167159..80256240 [GRCh38] Chr18:48693529..78014123 [GRCh37] Chr18:46947527..76115097 [NCBI36] Chr18:18q21.2-23 |
pathogenic |
GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3 |
copy number gain |
See cases [RCV000142244] |
Chr18:136227..80256240 [GRCh38] Chr18:136227..78014123 [GRCh37] Chr18:126227..76115097 [NCBI36] Chr18:18p11.32-q23 |
pathogenic |
GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3 |
copy number gain |
See cases [RCV000142227] |
Chr18:40367455..80256240 [GRCh38] Chr18:37947419..78014123 [GRCh37] Chr18:36201417..76115097 [NCBI36] Chr18:18q12.3-23 |
pathogenic |
GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3 |
copy number gain |
See cases [RCV000143057] |
Chr18:20962119..74691446 [GRCh38] Chr18:18542080..72403402 [GRCh37] Chr18:16796078..70532390 [NCBI36] Chr18:18q11.1-22.3 |
pathogenic |
GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3 |
copy number gain |
See cases [RCV000143218] |
Chr18:136226..80256240 [GRCh38] Chr18:136226..78014123 [GRCh37] Chr18:126226..76115097 [NCBI36] Chr18:18p11.32-q23 |
pathogenic |
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 |
copy number gain |
See cases [RCV000148072] |
Chr18:148963..80252149 [GRCh38] Chr18:148963..78010032 [GRCh37] Chr18:138963..76111023 [NCBI36] Chr18:18p11.32-q23 |
pathogenic |
NM_001083962.2(TCF4):c.748C>T (p.Gln250Ter) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001283846]|not provided [RCV000154000] |
Chr18:55275660 [GRCh38] Chr18:52942891 [GRCh37] Chr18:18q21.2 |
pathogenic|likely pathogenic |
NM_001083962.2(TCF4):c.1414del (p.Val472fs) |
deletion |
not provided [RCV000153998] |
Chr18:55234620 [GRCh38] Chr18:52901851 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.655+1G>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000767348]|not provided [RCV000154001] |
Chr18:55279550 [GRCh38] Chr18:52946781 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.341G>A (p.Arg114Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002312686]|Pitt-Hopkins syndrome [RCV001087507]|TCF4-related disorder [RCV004739481]|not provided [RCV000154002] |
Chr18:55403482 [GRCh38] Chr18:53070713 [GRCh37] Chr18:18q21.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001083962.2(TCF4):c.269A>G (p.Asn90Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002316975]|Pitt-Hopkins syndrome [RCV000332791]|not provided [RCV003884365]|not specified [RCV000154003] |
Chr18:55461054 [GRCh38] Chr18:53128285 [GRCh37] Chr18:18q21.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001083962.2(TCF4):c.1438C>T (p.Gln480Ter) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000157067] |
Chr18:55234596 [GRCh38] Chr18:52901827 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.726G>A (p.Leu242=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002054282]|not specified [RCV000192642] |
Chr18:55275682 [GRCh38] Chr18:52942913 [GRCh37] Chr18:18q21.2 |
likely benign|uncertain significance |
NM_001083962.2(TCF4):c.420G>A (p.Ser140=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001437135]|not specified [RCV000193197] |
Chr18:55350953 [GRCh38] Chr18:53018184 [GRCh37] Chr18:18q21.2 |
likely benign|uncertain significance |
NG_011716.2:g.54765TGC[51_?] |
microsatellite |
Corneal dystrophy, Fuchs endothelial, 3 [RCV000186552] |
Chr18:18q21.2 |
pathogenic|likely pathogenic |
NM_001083962.2(TCF4):c.1354G>A (p.Gly452Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004965318]|Pitt-Hopkins syndrome [RCV000396501]|not provided [RCV000725215]|not specified [RCV000194093] |
Chr18:55234680 [GRCh38] Chr18:52901911 [GRCh37] Chr18:18q21.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001083962.2(TCF4):c.*22G>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000296119]|not specified [RCV000128391] |
Chr18:55228013 [GRCh38] Chr18:52895244 [GRCh37] Chr18:18q21.2 |
benign|likely benign |
GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3 |
copy number gain |
See cases [RCV000240130] |
Chr18:163323..78005236 [GRCh37] Chr18:18p11.32-q23 |
pathogenic |
NM_001083962.2(TCF4):c.978delinsGG (p.Ala327fs) |
indel |
Pitt-Hopkins syndrome [RCV000194458] |
Chr18:55261478 [GRCh38] Chr18:52928709 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.655+1_655+2dup |
duplication |
Pitt-Hopkins syndrome [RCV000194246] |
Chr18:55279548..55279549 [GRCh38] Chr18:52946779..52946780 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1069+1G>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000191133] |
Chr18:55259948 [GRCh38] Chr18:52927179 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1965dup (p.Gly656fs) |
duplication |
Pitt-Hopkins syndrome [RCV000192539] |
Chr18:55228275..55228276 [GRCh38] Chr18:52895506..52895507 [GRCh37] Chr18:18q21.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_001083962.2(TCF4):c.1871A>C (p.Gln624Pro) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000193169] |
Chr18:55228855 [GRCh38] Chr18:52896086 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.1411C>T (p.Gln471Ter) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000195129] |
Chr18:55234623 [GRCh38] Chr18:52901854 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.-37C>T |
single nucleotide variant |
not specified [RCV000189709] |
Chr18:55588054 [GRCh38] Chr18:53255285 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.-29G>A |
single nucleotide variant |
not specified [RCV000189710] |
Chr18:55588046 [GRCh38] Chr18:53255277 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.370-14T>C |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002054238]|not specified [RCV000189711] |
Chr18:55351017 [GRCh38] Chr18:53018248 [GRCh37] Chr18:18q21.2 |
benign|likely benign |
NM_001083962.2(TCF4):c.1929G>C (p.Glu643Asp) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV005089963]|not provided [RCV001705056] |
Chr18:55228312 [GRCh38] Chr18:52895543 [GRCh37] Chr18:18q21.2 |
likely benign|uncertain significance |
NM_001083962.2(TCF4):c.305G>A (p.Ser102Asn) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000560032]|not provided [RCV000189717] |
Chr18:55403518 [GRCh38] Chr18:53070749 [GRCh37] Chr18:18q21.2 |
likely benign|uncertain significance |
NM_001083962.2(TCF4):c.389A>G (p.Asp130Gly) |
single nucleotide variant |
not provided [RCV000189718] |
Chr18:55350984 [GRCh38] Chr18:53018215 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.410G>A (p.Gly137Glu) |
single nucleotide variant |
not provided [RCV000189719] |
Chr18:55350963 [GRCh38] Chr18:53018194 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.413C>G (p.Thr138Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002314769]|Pitt-Hopkins syndrome [RCV002517021]|not specified [RCV000189720] |
Chr18:55350960 [GRCh38] Chr18:53018191 [GRCh37] Chr18:18q21.2 |
likely benign|uncertain significance |
NM_001083962.2(TCF4):c.508A>G (p.Thr170Ala) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002514072]|not provided [RCV000189721] |
Chr18:55350400 [GRCh38] Chr18:53017631 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1570C>T (p.Gln524Ter) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000645474]|not provided [RCV000189722] |
Chr18:55232588 [GRCh38] Chr18:52899819 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1586C>T (p.Ser529Leu) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV005089964]|not provided [RCV000189723] |
Chr18:55232572 [GRCh38] Chr18:52899803 [GRCh37] Chr18:18q21.2 |
benign|uncertain significance |
NM_001083962.1(TCF4):c.1634C>G (p.Thr545Ser) |
single nucleotide variant |
not provided [RCV000189724] |
Chr18:55232524 [GRCh38] Chr18:52899755 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.*5-1G>A |
single nucleotide variant |
not provided [RCV000189726] |
Chr18:55228031 [GRCh38] Chr18:52895262 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.1(TCF4):c.2012T>C (p.Met671Thr) |
single nucleotide variant |
not specified [RCV000189727] |
Chr18:55228229 [GRCh38] Chr18:52895460 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.124A>G (p.Ser42Gly) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001336173]|not provided [RCV000189728] |
Chr18:55585301 [GRCh38] Chr18:53252532 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.516_517dup (p.Val173fs) |
duplication |
not provided [RCV000189729] |
Chr18:55350390..55350391 [GRCh38] Chr18:53017621..53017622 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.680_682delinsT (p.Trp227fs) |
indel |
not provided [RCV000189730] |
Chr18:55275726..55275728 [GRCh38] Chr18:52942957..52942959 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.733TCT[1] (p.Ser246del) |
microsatellite |
not specified [RCV000189731] |
Chr18:55275670..55275672 [GRCh38] Chr18:52942901..52942903 [GRCh37] Chr18:18q21.2 |
likely benign|uncertain significance |
NM_001083962.2(TCF4):c.1505_1518del (p.Gln502fs) |
deletion |
not provided [RCV000189732] |
Chr18:55232640..55232653 [GRCh38] Chr18:52899871..52899884 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1966_1969dup (p.Pro657fs) |
microsatellite |
not provided [RCV000189733] |
Chr18:55228271..55228272 [GRCh38] Chr18:52895502..52895503 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.2010_2011del (p.Gln670fs) |
deletion |
Pitt-Hopkins syndrome [RCV001507033]|not provided [RCV000189734] |
Chr18:55228230..55228231 [GRCh38] Chr18:52895461..52895462 [GRCh37] Chr18:18q21.2 |
pathogenic|likely pathogenic |
NM_001083962.2(TCF4):c.1721A>G (p.Asn574Ser) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV004784153]|TCF4-related disorder [RCV003393002] |
Chr18:55229005 [GRCh38] Chr18:52896236 [GRCh37] Chr18:18q21.2 |
pathogenic|likely pathogenic |
NM_001083962.2(TCF4):c.790-6C>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000552708] |
Chr18:55269969 [GRCh38] Chr18:52937200 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1704G>A (p.Glu568=) |
single nucleotide variant |
Inborn genetic diseases [RCV002311286]|Pitt-Hopkins syndrome [RCV000863834]|not provided [RCV005425789]|not specified [RCV000189713] |
Chr18:55229022 [GRCh38] Chr18:52896253 [GRCh37] Chr18:18q21.2 |
benign|likely benign |
NM_001083962.2(TCF4):c.1990G>A (p.Ala664Thr) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001312621]|not specified [RCV000189715] |
Chr18:55228251 [GRCh38] Chr18:52895482 [GRCh37] Chr18:18q21.2 |
benign|likely benign|uncertain significance |
NM_001083962.1(TCF4):c.*4+2C>T |
single nucleotide variant |
not specified [RCV000189716] |
Chr18:55228219 [GRCh38] Chr18:52895450 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.584A>G (p.Asn195Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV005286041]|Pitt-Hopkins syndrome [RCV001857661]|not provided [RCV001705057] |
Chr18:55279622 [GRCh38] Chr18:52946853 [GRCh37] Chr18:18q21.2 |
likely benign|uncertain significance |
NM_001083962.2(TCF4):c.1316C>T (p.Thr439Ile) |
single nucleotide variant |
not specified [RCV000189736] |
Chr18:55254531 [GRCh38] Chr18:52921762 [GRCh37] Chr18:18q21.2 |
likely benign|uncertain significance |
NM_001083962.2(TCF4):c.550-2A>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000198247]|not provided [RCV001781584] |
Chr18:55279658 [GRCh38] Chr18:52946889 [GRCh37] Chr18:18q21.2 |
pathogenic|likely pathogenic |
NM_001083962.2(TCF4):c.1532C>G (p.Ser511Cys) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000556133] |
Chr18:55232626 [GRCh38] Chr18:52899857 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1486+2T>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000768431] |
Chr18:55234546 [GRCh38] Chr18:52901777 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.240G>A (p.Met80Ile) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001089294]|not provided [RCV000835152] |
Chr18:55461083 [GRCh38] Chr18:53128314 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.507G>A (p.Gln169=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001450118] |
Chr18:55350401 [GRCh38] Chr18:53017632 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.850C>T (p.His284Tyr) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000209937]|not provided [RCV001753630] |
Chr18:55269903 [GRCh38] Chr18:52937134 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1722T>C (p.Asn574=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000554718] |
Chr18:55229004 [GRCh38] Chr18:52896235 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.520C>T (p.Arg174Ter) |
single nucleotide variant |
Intellectual disability [RCV000224478]|Pitt-Hopkins syndrome [RCV000795184]|Pitt-Hopkins syndrome [RCV003224231]|not provided [RCV000760378] |
Chr18:55350388 [GRCh38] Chr18:53017619 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1487-5G>A |
single nucleotide variant |
Inborn genetic diseases [RCV002390593]|Intellectual disability [RCV000224109]|Pitt-Hopkins syndrome [RCV000298499]|TCF4-related disorder [RCV003955294]|not provided [RCV000422255]|not specified [RCV000503349] |
Chr18:55232676 [GRCh38] Chr18:52899907 [GRCh37] Chr18:18q21.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001083962.2(TCF4):c.790-9T>C |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000309921]|TCF4-related disorder [RCV003947841]|not provided [RCV000713809]|not specified [RCV000405244] |
Chr18:55269972 [GRCh38] Chr18:52937203 [GRCh37] Chr18:18q21.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 18q21.2(chr18:52921652-52926903)x1 |
copy number loss |
See cases [RCV000239793] |
Chr18:52921652..52926903 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1317C>T (p.Thr439=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000867187]|not provided [RCV001719058] |
Chr18:55254530 [GRCh38] Chr18:52921761 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.594G>A (p.Ser198=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001484572]|not provided [RCV000993287]|not specified [RCV000600117] |
Chr18:55279612 [GRCh38] Chr18:52946843 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.72+8_72+11del |
microsatellite |
Pitt-Hopkins syndrome [RCV002525096]|not specified [RCV000517075] |
Chr18:55587034..55587037 [GRCh38] Chr18:53254265..53254268 [GRCh37] Chr18:18q21.2 |
likely benign|uncertain significance |
GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3 |
copy number gain |
See cases [RCV000240476] |
Chr18:18548019..77954165 [GRCh37] Chr18:18q11.1-23 |
pathogenic |
NM_001083962.2(TCF4):c.-125C>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000282136]|not provided [RCV004717139] |
Chr18:55588142 [GRCh38] Chr18:53255373 [GRCh37] Chr18:18q21.2 |
benign|likely benign |
NM_001083962.2(TCF4):c.*5240T>C |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000300986] |
Chr18:55222795 [GRCh38] Chr18:52890026 [GRCh37] Chr18:18q21.2 |
likely benign|uncertain significance |
NM_001083962.2(TCF4):c.*3982del |
deletion |
Pitt-Hopkins syndrome [RCV000265839] |
Chr18:55224053 [GRCh38] Chr18:52891284 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.*1761del |
deletion |
Pitt-Hopkins syndrome [RCV000288677] |
Chr18:55226274 [GRCh38] Chr18:52893505 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.*4352_*4353del |
deletion |
Pitt-Hopkins syndrome [RCV000273208] |
Chr18:55223682..55223683 [GRCh38] Chr18:52890913..52890914 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.*2010dup |
duplication |
Pitt-Hopkins syndrome [RCV000259881] |
Chr18:55226024..55226025 [GRCh38] Chr18:52893255..52893256 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.*5106T>C |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000261417]|not provided [RCV004709857] |
Chr18:55222929 [GRCh38] Chr18:52890160 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.*4214GTTTTT[3] |
microsatellite |
Pitt-Hopkins syndrome [RCV000298320]|not provided [RCV003422295] |
Chr18:55223798..55223803 [GRCh38] Chr18:52891029..52891034 [GRCh37] Chr18:18q21.2 |
benign|uncertain significance |
NM_001083962.2(TCF4):c.*3868_*3870del |
deletion |
Pitt-Hopkins syndrome [RCV000269142] |
Chr18:55224165..55224167 [GRCh38] Chr18:52891396..52891398 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.816C>T (p.Asp272=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000271157]|not provided [RCV001706522] |
Chr18:55269937 [GRCh38] Chr18:52937168 [GRCh37] Chr18:18q21.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001083962.2(TCF4):c.*5189_*5192del |
deletion |
Pitt-Hopkins syndrome [RCV000356264] |
Chr18:55222843..55222846 [GRCh38] Chr18:52890074..52890077 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.*785_*786dup |
duplication |
Pitt-Hopkins syndrome [RCV000261228] |
Chr18:55227248..55227249 [GRCh38] Chr18:52894479..52894480 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.*1903G>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000321394]|not provided [RCV004709859] |
Chr18:55226132 [GRCh38] Chr18:52893363 [GRCh37] Chr18:18q21.2 |
benign|likely benign |
NM_001083962.2(TCF4):c.*562C>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000322085] |
Chr18:55227473 [GRCh38] Chr18:52894704 [GRCh37] Chr18:18q21.2 |
likely benign|uncertain significance |
NM_001083962.2(TCF4):c.*2702_*2704del |
deletion |
Pitt-Hopkins syndrome [RCV000310029] |
Chr18:55225331..55225333 [GRCh38] Chr18:52892562..52892564 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1471C>T (p.Gln491Ter) |
single nucleotide variant |
not provided [RCV000279608] |
Chr18:55234563 [GRCh38] Chr18:52901794 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.*1100T>C |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000368123] |
Chr18:55226935 [GRCh38] Chr18:52894166 [GRCh37] Chr18:18q21.2 |
likely benign|uncertain significance |
NM_001083962.2(TCF4):c.*2506G>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000275179] |
Chr18:55225529 [GRCh38] Chr18:52892760 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*3397dup |
duplication |
Pitt-Hopkins syndrome [RCV000280858] |
Chr18:55224637..55224638 [GRCh38] Chr18:52891868..52891869 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*5553dup |
duplication |
Pitt-Hopkins syndrome [RCV000282991] |
Chr18:55222481..55222482 [GRCh38] Chr18:52889712..52889713 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.*2660A>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000396601] |
Chr18:55225375 [GRCh38] Chr18:52892606 [GRCh37] Chr18:18q21.2 |
benign|likely benign |
NM_001083962.2(TCF4):c.*3491C>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000277435] |
Chr18:55224544 [GRCh38] Chr18:52891775 [GRCh37] Chr18:18q21.2 |
benign|likely benign |
NM_001083962.2(TCF4):c.*3870del |
deletion |
Pitt-Hopkins syndrome [RCV000366190] |
Chr18:55224165 [GRCh38] Chr18:52891396 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*2553C>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000367470] |
Chr18:55225482 [GRCh38] Chr18:52892713 [GRCh37] Chr18:18q21.2 |
benign|likely benign |
NM_001083962.2(TCF4):c.*4324_*4325dup |
duplication |
Pitt-Hopkins syndrome [RCV000292282] |
Chr18:55223709..55223710 [GRCh38] Chr18:52890940..52890941 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*4325dup |
duplication |
Pitt-Hopkins syndrome [RCV000295663] |
Chr18:55223709..55223710 [GRCh38] Chr18:52890940..52890941 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*3269T>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000371518] |
Chr18:55224766 [GRCh38] Chr18:52891997 [GRCh37] Chr18:18q21.2 |
benign|likely benign |
NM_001083962.2(TCF4):c.*909G>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000397294] |
Chr18:55227126 [GRCh38] Chr18:52894357 [GRCh37] Chr18:18q21.2 |
benign|likely benign |
NM_001083962.2(TCF4):c.*4061dup |
duplication |
Pitt-Hopkins syndrome [RCV000305820] |
Chr18:55223973..55223974 [GRCh38] Chr18:52891204..52891205 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.*1576T>C |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000350682] |
Chr18:55226459 [GRCh38] Chr18:52893690 [GRCh37] Chr18:18q21.2 |
benign|likely benign |
NM_001083962.2(TCF4):c.655G>A (p.Asp219Asn) |
single nucleotide variant |
not provided [RCV000330180] |
Chr18:55279551 [GRCh38] Chr18:52946782 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.*3418dup |
duplication |
Pitt-Hopkins syndrome [RCV000329908] |
Chr18:55224616..55224617 [GRCh38] Chr18:52891847..52891848 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.*1889T>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000378092] |
Chr18:55226146 [GRCh38] Chr18:52893377 [GRCh37] Chr18:18q21.2 |
benign|likely benign |
NM_001243230.2(TCF4):c.66G>A (p.Glu22=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000403146]|TCF4-related disorder [RCV003940302] |
Chr18:55588470 [GRCh38] Chr18:53255701 [GRCh37] Chr18:18q21.2 |
benign|likely benign |
NM_001083962.2(TCF4):c.*1763C>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000403569]|not provided [RCV003422297] |
Chr18:55226272 [GRCh38] Chr18:52893503 [GRCh37] Chr18:18q21.2 |
benign|likely benign|uncertain significance |
NM_001083962.2(TCF4):c.*1201C>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000310995] |
Chr18:55226834 [GRCh38] Chr18:52894065 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.*451A>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000291677] |
Chr18:55227584 [GRCh38] Chr18:52894815 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.*3404G>C |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000386770]|not provided [RCV003422296] |
Chr18:55224631 [GRCh38] Chr18:52891862 [GRCh37] Chr18:18q21.2 |
benign|likely benign |
NM_001083962.2(TCF4):c.*53C>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000388095]|not provided [RCV001557635] |
Chr18:55227982 [GRCh38] Chr18:52895213 [GRCh37] Chr18:18q21.2 |
benign|likely benign |
NM_001083962.2(TCF4):c.*3529T>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000388162] |
Chr18:55224506 [GRCh38] Chr18:52891737 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*4325_*4326insAT |
insertion |
Pitt-Hopkins syndrome [RCV000380762] |
Chr18:55223709..55223710 [GRCh38] Chr18:52890940..52890941 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*4088T>C |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000334625]|not provided [RCV002263044] |
Chr18:55223947 [GRCh38] Chr18:52891178 [GRCh37] Chr18:18q21.2 |
benign|likely benign |
NM_001083962.2(TCF4):c.*3349C>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000338234] |
Chr18:55224686 [GRCh38] Chr18:52891917 [GRCh37] Chr18:18q21.2 |
likely benign|uncertain significance |
NM_001083962.2(TCF4):c.*4320_*4321insGAA |
insertion |
Pitt-Hopkins syndrome [RCV000338049] |
Chr18:55223714..55223715 [GRCh38] Chr18:52890945..52890946 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1031del (p.Asn344fs) |
deletion |
not provided [RCV000374260] |
Chr18:55259987 [GRCh38] Chr18:52927218 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.*1339dup |
duplication |
Pitt-Hopkins syndrome [RCV000397291] |
Chr18:55226695..55226696 [GRCh38] Chr18:52893926..52893927 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.*549G>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000383685]|not provided [RCV002263045] |
Chr18:55227486 [GRCh38] Chr18:52894717 [GRCh37] Chr18:18q21.2 |
benign|likely benign |
NM_001083962.2(TCF4):c.*2857C>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000340249] |
Chr18:55225178 [GRCh38] Chr18:52892409 [GRCh37] Chr18:18q21.2 |
likely benign|uncertain significance |
NM_001083962.2(TCF4):c.*3058C>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000341236] |
Chr18:55224977 [GRCh38] Chr18:52892208 [GRCh37] Chr18:18q21.2 |
benign|likely benign |
NM_001083962.2(TCF4):c.*4319_*4320insGA |
insertion |
Pitt-Hopkins syndrome [RCV000394708] |
Chr18:55223715..55223716 [GRCh38] Chr18:52890946..52890947 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.*5019T>C |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000297976] |
Chr18:55223016 [GRCh38] Chr18:52890247 [GRCh37] Chr18:18q21.2 |
benign|likely benign |
NM_001083962.2(TCF4):c.*5299A>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000397336]|not provided [RCV004709856] |
Chr18:55222736 [GRCh38] Chr18:52889967 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.*4549C>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000362018] |
Chr18:55223486 [GRCh38] Chr18:52890717 [GRCh37] Chr18:18q21.2 |
benign|likely benign |
NM_001083962.2(TCF4):c.*4325A>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000386655] |
Chr18:55223710 [GRCh38] Chr18:52890941 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*726T>C |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000264725] |
Chr18:55227309 [GRCh38] Chr18:52894540 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*832G>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000300604] |
Chr18:55227203 [GRCh38] Chr18:52894434 [GRCh37] Chr18:18q21.2 |
benign|likely benign |
NM_001083962.2(TCF4):c.990+12T>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000301665] |
Chr18:55261454 [GRCh38] Chr18:52928685 [GRCh37] Chr18:18q21.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001083962.2(TCF4):c.*2951A>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000301740]|not provided [RCV004709858] |
Chr18:55225084 [GRCh38] Chr18:52892315 [GRCh37] Chr18:18q21.2 |
benign|likely benign |
NM_001083962.2(TCF4):c.*5553del |
deletion |
Pitt-Hopkins syndrome [RCV000347298] |
Chr18:55222482 [GRCh38] Chr18:52889713 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*1799G>C |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000348130] |
Chr18:55226236 [GRCh38] Chr18:52893467 [GRCh37] Chr18:18q21.2 |
benign|likely benign |
NM_001083962.2(TCF4):c.*2989GTT[2] |
microsatellite |
Pitt-Hopkins syndrome [RCV000402557] |
Chr18:55225038..55225040 [GRCh38] Chr18:52892269..52892271 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1577C>A (p.Thr526Lys) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000405270] |
Chr18:55232581 [GRCh38] Chr18:52899812 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*3116C>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000279333] |
Chr18:55224919 [GRCh38] Chr18:52892150 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*2001G>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000317830] |
Chr18:55226034 [GRCh38] Chr18:52893265 [GRCh37] Chr18:18q21.2 |
benign|likely benign |
NM_001083962.2(TCF4):c.687C>A (p.Ser229=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000362327]|not specified [RCV000435766] |
Chr18:55275721 [GRCh38] Chr18:52942952 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.*5503T>C |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000405341] |
Chr18:55222532 [GRCh38] Chr18:52889763 [GRCh37] Chr18:18q21.2 |
benign|likely benign |
NM_001083962.2(TCF4):c.*2413G>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000318605] |
Chr18:55225622 [GRCh38] Chr18:52892853 [GRCh37] Chr18:18q21.2 |
benign|likely benign |
NM_001083962.2(TCF4):c.*2688A>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000364142] |
Chr18:55225347 [GRCh38] Chr18:52892578 [GRCh37] Chr18:18q21.2 |
benign|likely benign |
NM_001083962.2(TCF4):c.212A>G (p.Tyr71Cys) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000389599]|not provided [RCV001553198] |
Chr18:55461111 [GRCh38] Chr18:53128342 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*4477A>C |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000267184] |
Chr18:55223558 [GRCh38] Chr18:52890789 [GRCh37] Chr18:18q21.2 |
likely benign|uncertain significance |
NM_001083962.2(TCF4):c.*788G>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000353147] |
Chr18:55227247 [GRCh38] Chr18:52894478 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1650-2A>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV004796226]|not provided [RCV000522685] |
Chr18:55229078 [GRCh38] Chr18:52896309 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.*178C>T |
single nucleotide variant |
not provided [RCV001269647] |
Chr18:55227857 [GRCh38] Chr18:52895088 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.*1827C>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000290861] |
Chr18:55226208 [GRCh38] Chr18:52893439 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*5411G>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000344553] |
Chr18:55222624 [GRCh38] Chr18:52889855 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*754G>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000361683] |
Chr18:55227281 [GRCh38] Chr18:52894512 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.1(TCF4):c.-474T>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000303589] |
Chr18:55588491 [GRCh38] Chr18:53255722 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*2565T>C |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000315179] |
Chr18:55225470 [GRCh38] Chr18:52892701 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.-160CGG[8] |
microsatellite |
Pitt-Hopkins syndrome [RCV000334978]|not provided [RCV003422298] |
Chr18:55588156..55588157 [GRCh38] Chr18:53255387..53255388 [GRCh37] Chr18:18q21.2 |
benign|uncertain significance |
NM_001083962.2(TCF4):c.*5319A>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000368607] |
Chr18:55222716 [GRCh38] Chr18:52889947 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*4354_*4357del |
deletion |
Pitt-Hopkins syndrome [RCV000322317] |
Chr18:55223678..55223681 [GRCh38] Chr18:52890909..52890912 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.1(TCF4):c.-272G>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000286161] |
Chr18:55588289 [GRCh38] Chr18:53255520 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*3981_*3982del |
deletion |
Pitt-Hopkins syndrome [RCV000309172] |
Chr18:55224053..55224054 [GRCh38] Chr18:52891284..52891285 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*786del |
deletion |
Pitt-Hopkins syndrome [RCV000323352] |
Chr18:55227249 [GRCh38] Chr18:52894480 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*1912A>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000287350] |
Chr18:55226123 [GRCh38] Chr18:52893354 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.1(TCF4):c.-248C>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000373227] |
Chr18:55588265 [GRCh38] Chr18:53255496 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*356A>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000325566] |
Chr18:55227679 [GRCh38] Chr18:52894910 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.-21+10G>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000374382] |
Chr18:55588028 [GRCh38] Chr18:53255259 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*4338del |
deletion |
Pitt-Hopkins syndrome [RCV000326178] |
Chr18:55223697 [GRCh38] Chr18:52890928 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*2369TCC[2] |
microsatellite |
Pitt-Hopkins syndrome [RCV000356941] |
Chr18:55225658..55225660 [GRCh38] Chr18:52892889..52892891 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*4081_*4084del |
deletion |
Pitt-Hopkins syndrome [RCV000394721] |
Chr18:55223951..55223954 [GRCh38] Chr18:52891182..52891185 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*5418T>C |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000289509] |
Chr18:55222617 [GRCh38] Chr18:52889848 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*3756A>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000326491] |
Chr18:55224279 [GRCh38] Chr18:52891510 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*3982dup |
duplication |
Pitt-Hopkins syndrome [RCV000358199] |
Chr18:55224052..55224053 [GRCh38] Chr18:52891283..52891284 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*4353del |
deletion |
Pitt-Hopkins syndrome [RCV000376988] |
Chr18:55223682 [GRCh38] Chr18:52890913 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.1(TCF4):c.-362A>C |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000343461] |
Chr18:55588379 [GRCh38] Chr18:53255610 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*2822G>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000396605] |
Chr18:55225213 [GRCh38] Chr18:52892444 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*5392_*5393del |
deletion |
Pitt-Hopkins syndrome [RCV000397327] |
Chr18:55222642..55222643 [GRCh38] Chr18:52889873..52889874 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.673del (p.Asp225fs) |
deletion |
Inborn genetic diseases [RCV000622476] |
Chr18:55275735 [GRCh38] Chr18:52942966 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.*5383T>C |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000313956] |
Chr18:55222652 [GRCh38] Chr18:52889883 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*1968TAT[1] |
microsatellite |
Pitt-Hopkins syndrome [RCV000379362] |
Chr18:55226062..55226064 [GRCh38] Chr18:52893293..52893295 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1726C>T (p.Arg576Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV002413657]|Pitt-Hopkins syndrome [RCV000824831]|not provided [RCV000578535] |
Chr18:55229000 [GRCh38] Chr18:52896231 [GRCh37] Chr18:18q21.2 |
pathogenic|likely pathogenic |
NM_001083962.2(TCF4):c.1726del (p.Arg576fs) |
deletion |
Pitt-Hopkins syndrome [RCV005252993]|not provided [RCV000599037] |
Chr18:55229000 [GRCh38] Chr18:52896231 [GRCh37] Chr18:18q21.2 |
pathogenic|likely pathogenic |
NM_001083962.2(TCF4):c.1711del (p.Met571fs) |
deletion |
not provided [RCV000599183] |
Chr18:55229015 [GRCh38] Chr18:52896246 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1265T>C (p.Ile422Thr) |
single nucleotide variant |
not provided [RCV000523950] |
Chr18:55254582 [GRCh38] Chr18:52921813 [GRCh37] Chr18:18q21.2 |
likely benign|uncertain significance |
NM_001083962.2(TCF4):c.1811_1822del (p.Pro604_Lys607del) |
deletion |
Inborn genetic diseases [RCV000623938] |
Chr18:55228904..55228915 [GRCh38] Chr18:52896135..52896146 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.1(TCF4):c.-511G>A |
single nucleotide variant |
not specified [RCV000414629] |
Chr18:55588528 [GRCh38] Chr18:53255759 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.500-1G>A |
single nucleotide variant |
Epicanthus [RCV000414838]|Pitt-Hopkins syndrome [RCV001198319] |
Chr18:55350409 [GRCh38] Chr18:53017640 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1774G>A (p.Gly592Ser) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV004819232]|not provided [RCV000734429] |
Chr18:55228952 [GRCh38] Chr18:52896183 [GRCh37] Chr18:18q21.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_001083962.2(TCF4):c.1719_1722dup (p.Ala575fs) |
duplication |
Global developmental delay [RCV000415111]|Pitt-Hopkins syndrome [RCV000856758] |
Chr18:55229003..55229004 [GRCh38] Chr18:52896234..52896235 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.242C>A (p.Thr81Asn) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000534839] |
Chr18:55461081 [GRCh38] Chr18:53128312 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.706C>G (p.Pro236Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002365455]|Pitt-Hopkins syndrome [RCV003507275]|not specified [RCV000412751] |
Chr18:55275702 [GRCh38] Chr18:52942933 [GRCh37] Chr18:18q21.2 |
likely benign|uncertain significance |
NM_001083962.2(TCF4):c.1037C>G (p.Ser346Ter) |
single nucleotide variant |
not provided [RCV000413573] |
Chr18:55259981 [GRCh38] Chr18:52927212 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.851A>G (p.His284Arg) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000540855] |
Chr18:55269902 [GRCh38] Chr18:52937133 [GRCh37] Chr18:18q21.2 |
uncertain significance |
GRCh37/hg19 18q21.2-22.1(chr18:50739715-63705988)x1 |
copy number loss |
See cases [RCV000446087] |
Chr18:50739715..63705988 [GRCh37] Chr18:18q21.2-22.1 |
pathogenic |
GRCh37/hg19 18q21.2(chr18:53290008-53383013)x1 |
copy number loss |
not specified [RCV000447341] |
Chr18:53290008..53383013 [GRCh37] Chr18:18q21.2 |
likely pathogenic|uncertain significance |
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)x3 |
copy number gain |
See cases [RCV000446047] |
Chr18:136226..78014123 [GRCh37] Chr18:18p11.32-q23 |
pathogenic |
NM_001083962.2(TCF4):c.807C>T (p.Ser269=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000866996]|not provided [RCV003422409]|not specified [RCV000431030] |
Chr18:55269946 [GRCh38] Chr18:52937177 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.305-15C>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001865333]|not specified [RCV000441294] |
Chr18:55403533 [GRCh38] Chr18:53070764 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.594G>T (p.Ser198=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV004797611]|not provided [RCV000726870]|not specified [RCV000444889] |
Chr18:55279612 [GRCh38] Chr18:52946843 [GRCh37] Chr18:18q21.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001083962.2(TCF4):c.576C>T (p.Ala192=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001424252]|not provided [RCV001704355]|not specified [RCV001821191] |
Chr18:55279630 [GRCh38] Chr18:52946861 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.*5-18T>C |
single nucleotide variant |
not specified [RCV000420787] |
Chr18:55228048 [GRCh38] Chr18:52895279 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.945C>T (p.Ala315=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000864027]|TCF4-related disorder [RCV003922802]|not specified [RCV000434461] |
Chr18:55261511 [GRCh38] Chr18:52928742 [GRCh37] Chr18:18q21.2 |
benign|likely benign |
NM_001083962.2(TCF4):c.1866G>A (p.Glu622=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001461197]|not provided [RCV001718881] |
Chr18:55228860 [GRCh38] Chr18:52896091 [GRCh37] Chr18:18q21.2 |
likely benign |
GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3 |
copy number gain |
See cases [RCV000445851] |
Chr18:163323..78005185 [GRCh37] Chr18:18p11.32-q23 |
pathogenic |
NM_001083962.2(TCF4):c.1773C>T (p.Leu591=) |
single nucleotide variant |
not specified [RCV000421125] |
Chr18:55228953 [GRCh38] Chr18:52896184 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1907G>A (p.Cys636Tyr) |
single nucleotide variant |
not provided [RCV000435178] |
Chr18:55228334 [GRCh38] Chr18:52895565 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1826T>C (p.Leu609Pro) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001507045]|not provided [RCV000418798] |
Chr18:55228900 [GRCh38] Chr18:52896131 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.1587G>A (p.Ser529=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002059564]|not specified [RCV000424916] |
Chr18:55232571 [GRCh38] Chr18:52899802 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1351-17T>A |
single nucleotide variant |
not specified [RCV000431990] |
Chr18:55234700 [GRCh38] Chr18:52901931 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.369+12T>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002061540]|not specified [RCV000435781] |
Chr18:55403442 [GRCh38] Chr18:53070673 [GRCh37] Chr18:18q21.2 |
benign|likely benign |
GRCh37/hg19 18q21.2-23(chr18:50224898-78014123)x1 |
copy number loss |
See cases [RCV000510720] |
Chr18:50224898..78014123 [GRCh37] Chr18:18q21.2-23 |
likely pathogenic |
NM_001083962.2(TCF4):c.726G>T (p.Leu242Phe) |
single nucleotide variant |
not specified [RCV000422230] |
Chr18:55275682 [GRCh38] Chr18:52942913 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.207+16C>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002061539]|not specified [RCV000425997] |
Chr18:55464060 [GRCh38] Chr18:53131291 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1879+13C>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV005090873]|not specified [RCV000436270] |
Chr18:55228834 [GRCh38] Chr18:52896065 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.207+13A>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002061538]|not specified [RCV000443640] |
Chr18:55464063 [GRCh38] Chr18:53131294 [GRCh37] Chr18:18q21.2 |
benign|likely benign |
NM_001083962.2(TCF4):c.790-19T>C |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002061541]|not specified [RCV000443772] |
Chr18:55269982 [GRCh38] Chr18:52937213 [GRCh37] Chr18:18q21.2 |
benign|likely benign |
NM_001083962.2(TCF4):c.1727G>A (p.Arg576Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV000623167]|Pitt-Hopkins syndrome [RCV001507071]|TCF4-related disorder [RCV003422397]|not provided [RCV000431775] |
Chr18:55228999 [GRCh38] Chr18:52896230 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1545C>T (p.Ser515=) |
single nucleotide variant |
Inborn genetic diseases [RCV002402129]|Pitt-Hopkins syndrome [RCV000867355]|TCF4-related disorder [RCV003972581]|not provided [RCV001703504] |
Chr18:55232613 [GRCh38] Chr18:52899844 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.923-17G>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002488909]|Pitt-Hopkins syndrome [RCV002519518]|not specified [RCV000440622] |
Chr18:55261550 [GRCh38] Chr18:52928781 [GRCh37] Chr18:18q21.2 |
benign|likely benign |
NM_001083962.2(TCF4):c.891G>A (p.Thr297=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001413890]|TCF4-related disorder [RCV003902486]|not provided [RCV003409587]|not specified [RCV000437325] |
Chr18:55269862 [GRCh38] Chr18:52937093 [GRCh37] Chr18:18q21.2 |
benign|likely benign |
NM_001083962.2(TCF4):c.1848C>T (p.Ala616=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001477752]|not specified [RCV000444488] |
Chr18:55228878 [GRCh38] Chr18:52896109 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1308G>A (p.Gly436=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV005090839]|not specified [RCV000423502] |
Chr18:55254539 [GRCh38] Chr18:52921770 [GRCh37] Chr18:18q21.2 |
likely benign |
GRCh37/hg19 18q21.2-23(chr18:53100584-78014123)x1 |
copy number loss |
See cases [RCV000445943] |
Chr18:53100584..78014123 [GRCh37] Chr18:18q21.2-23 |
pathogenic |
NM_001083962.2(TCF4):c.1136dup (p.Leu379fs) |
duplication |
Pitt-Hopkins syndrome [RCV000417112] |
Chr18:55257324..55257325 [GRCh38] Chr18:52924555..52924556 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
GRCh37/hg19 18q21.1-23(chr18:47656799-78014123)x1 |
copy number loss |
See cases [RCV000447931] |
Chr18:47656799..78014123 [GRCh37] Chr18:18q21.1-23 |
pathogenic |
GRCh37/hg19 18q21.2(chr18:53214922-53346803)x1 |
copy number loss |
See cases [RCV000448209] |
Chr18:53214922..53346803 [GRCh37] Chr18:18q21.2 |
pathogenic |
GRCh37/hg19 18q21.2-23(chr18:52837852-77989426)x1 |
copy number loss |
See cases [RCV000448656] |
Chr18:52837852..77989426 [GRCh37] Chr18:18q21.2-23 |
pathogenic |
GRCh37/hg19 18q12.2-23(chr18:33417216-78014123)x3 |
copy number gain |
See cases [RCV000512081] |
Chr18:33417216..78014123 [GRCh37] Chr18:18q12.2-23 |
pathogenic |
NM_001083962.2(TCF4):c.873C>G (p.Tyr291Ter) |
single nucleotide variant |
not provided [RCV000481651] |
Chr18:55269880 [GRCh38] Chr18:52937111 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1553del (p.Glu518fs) |
deletion |
not provided [RCV000482160] |
Chr18:55232605 [GRCh38] Chr18:52899836 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.1716del (p.Asn573fs) |
deletion |
not provided [RCV000485949] |
Chr18:55229010 [GRCh38] Chr18:52896241 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.652C>T (p.Gln218Ter) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003507281]|not provided [RCV000486556] |
Chr18:55279554 [GRCh38] Chr18:52946785 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.990+13dup |
duplication |
not specified [RCV000482555] |
Chr18:55261452..55261453 [GRCh38] Chr18:52928683..52928684 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1185T>C (p.Asp395=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001424709]|not provided [RCV001653864]|not specified [RCV000501013] |
Chr18:55254662 [GRCh38] Chr18:52921893 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.330A>C (p.Ser110=) |
single nucleotide variant |
Inborn genetic diseases [RCV002316448]|Pitt-Hopkins syndrome [RCV000862407]|not provided [RCV001527903]|not specified [RCV000503478] |
Chr18:55403493 [GRCh38] Chr18:53070724 [GRCh37] Chr18:18q21.2 |
benign|likely benign |
NM_001083962.2(TCF4):c.890C>T (p.Thr297Met) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003617819]|not specified [RCV000503808] |
Chr18:55269863 [GRCh38] Chr18:52937094 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1957_1958del (p.Ser653fs) |
microsatellite |
Pitt-Hopkins syndrome [RCV000496195] |
Chr18:55228283..55228284 [GRCh38] Chr18:52895514..52895515 [GRCh37] Chr18:18q21.2 |
pathogenic |
GRCh37/hg19 18q21.1-23(chr18:47454437-78014123)x3 |
copy number gain |
See cases [RCV000510655] |
Chr18:47454437..78014123 [GRCh37] Chr18:18q21.1-23 |
pathogenic |
NM_001083962.2(TCF4):c.759C>G (p.Ser253Arg) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000500332]|not provided [RCV000498335] |
Chr18:55275649 [GRCh38] Chr18:52942880 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.1069+1G>A |
single nucleotide variant |
not provided [RCV000523240] |
Chr18:55259948 [GRCh38] Chr18:52927179 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1760C>T (p.Ala587Val) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000501849] |
Chr18:55228966 [GRCh38] Chr18:52896197 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.1834del (p.His612fs) |
deletion |
Pitt-Hopkins syndrome [RCV000499729] |
Chr18:55228892 [GRCh38] Chr18:52896123 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.642C>T (p.Ser214=) |
single nucleotide variant |
not specified [RCV000500022] |
Chr18:55279564 [GRCh38] Chr18:52946795 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1358C>T (p.Thr453Ile) |
single nucleotide variant |
not specified [RCV000500298] |
Chr18:55234676 [GRCh38] Chr18:52901907 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1113G>A (p.Ser371=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000645482]|not specified [RCV000503083] |
Chr18:55257348 [GRCh38] Chr18:52924579 [GRCh37] Chr18:18q21.2 |
likely benign|conflicting interpretations of pathogenicity |
GRCh37/hg19 18q21.1-23(chr18:43776770-78014123)x3 |
copy number gain |
See cases [RCV000511394] |
Chr18:43776770..78014123 [GRCh37] Chr18:18q21.1-23 |
pathogenic |
NM_001083962.2(TCF4):c.986_990+3del |
deletion |
not provided [RCV000493896] |
Chr18:55261463..55261470 [GRCh38] Chr18:52928694..52928701 [GRCh37] Chr18:18q21.2 |
pathogenic |
GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3 |
copy number gain |
See cases [RCV000511734] |
Chr18:18521285..64495798 [GRCh37] Chr18:18q11.1-22.1 |
pathogenic |
GRCh37/hg19 18q21.2(chr18:53280664-53428347)x1 |
copy number loss |
See cases [RCV000511379] |
Chr18:53280664..53428347 [GRCh37] Chr18:18q21.2 |
uncertain significance |
GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3 |
copy number gain |
See cases [RCV000512030] |
Chr18:14869204..78014123 [GRCh37] Chr18:18p11.21-q23 |
pathogenic |
GRCh37/hg19 18q21.1-23(chr18:46177798-78014123)x1 |
copy number loss |
See cases [RCV000511759] |
Chr18:46177798..78014123 [GRCh37] Chr18:18q21.1-23 |
pathogenic |
NM_001083962.2(TCF4):c.1876C>T (p.Arg626Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV003159600]|Pitt-Hopkins syndrome [RCV000660298]|not provided [RCV000493014] |
Chr18:55228850 [GRCh38] Chr18:52896081 [GRCh37] Chr18:18q21.2 |
pathogenic|likely pathogenic |
GRCh37/hg19 18q12.3-23(chr18:42930373-78014123)x3 |
copy number gain |
See cases [RCV000511203] |
Chr18:42930373..78014123 [GRCh37] Chr18:18q12.3-23 |
pathogenic |
NM_001083962.2(TCF4):c.280C>T (p.Pro94Ser) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000697776]|not provided [RCV002291691] |
Chr18:55461043 [GRCh38] Chr18:53128274 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.991-6T>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000797687]|not provided [RCV000523429] |
Chr18:55260033 [GRCh38] Chr18:52927264 [GRCh37] Chr18:18q21.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
GRCh37/hg19 18p11.32-q23(chr18:136227-78014123) |
copy number gain |
See cases [RCV000511189] |
Chr18:136227..78014123 [GRCh37] Chr18:18p11.32-q23 |
pathogenic |
NM_001083962.2(TCF4):c.1504del (p.Gln502fs) |
deletion |
Pitt-Hopkins syndrome [RCV000524725] |
Chr18:55232654 [GRCh38] Chr18:52899885 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.643T>G (p.Phe215Val) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000645476] |
Chr18:55279563 [GRCh38] Chr18:52946794 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.201G>A (p.Pro67=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000645479]|not provided [RCV000827338] |
Chr18:55464082 [GRCh38] Chr18:53131313 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.738T>C (p.Ser246=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000527456] |
Chr18:55275670 [GRCh38] Chr18:52942901 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.337G>C (p.Gly113Arg) |
single nucleotide variant |
Esophageal atresia [RCV000984688]|Pitt-Hopkins syndrome [RCV000533793] |
Chr18:55403486 [GRCh38] Chr18:53070717 [GRCh37] Chr18:18q21.2 |
pathogenic|likely benign|uncertain significance |
NM_001083962.2(TCF4):c.1026A>G (p.Ser342=) |
single nucleotide variant |
not provided [RCV003312416] |
Chr18:55259992 [GRCh38] Chr18:52927223 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.680G>A (p.Trp227Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV000623798] |
Chr18:55275728 [GRCh38] Chr18:52942959 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.83C>T (p.Pro28Leu) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003618069]|not provided [RCV003327987] |
Chr18:55585342 [GRCh38] Chr18:53252573 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.919_922+2delinsGTCCC |
indel |
Pitt-Hopkins syndrome [RCV000656529] |
Chr18:55269829..55269834 [GRCh38] Chr18:52937060..52937065 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.-21+18C>T |
single nucleotide variant |
not specified [RCV000606821] |
Chr18:55588020 [GRCh38] Chr18:53255251 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1486+2T>C |
single nucleotide variant |
Inborn genetic diseases [RCV000624700] |
Chr18:55234546 [GRCh38] Chr18:52901777 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.1304C>G (p.Ser435Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV000624046] |
Chr18:55254543 [GRCh38] Chr18:52921774 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1887T>C (p.Asn629=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001491082]|not specified [RCV000612498] |
Chr18:55228354 [GRCh38] Chr18:52895585 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1677A>G (p.Pro559=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000540358] |
Chr18:55229049 [GRCh38] Chr18:52896280 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1577C>T (p.Thr526Met) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002066601]|not provided [RCV001698457]|not specified [RCV000615986] |
Chr18:55232581 [GRCh38] Chr18:52899812 [GRCh37] Chr18:18q21.2 |
benign|likely benign |
NM_001083962.2(TCF4):c.1557del (p.Asp520fs) |
deletion |
Pitt-Hopkins syndrome [RCV000541444] |
Chr18:55232601 [GRCh38] Chr18:52899832 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1267_1268del (p.Gly423fs) |
deletion |
Inborn genetic diseases [RCV000622282] |
Chr18:55254579..55254580 [GRCh38] Chr18:52921810..52921811 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.500-18A>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002065311]|not specified [RCV000616548] |
Chr18:55350426 [GRCh38] Chr18:53017657 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.-21+12C>T |
single nucleotide variant |
not specified [RCV000607951] |
Chr18:55588026 [GRCh38] Chr18:53255257 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1650-18A>T |
single nucleotide variant |
not specified [RCV000613673] |
Chr18:55229094 [GRCh38] Chr18:52896325 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1817_1828del (p.Thr606_Leu609del) |
deletion |
Pitt-Hopkins syndrome [RCV000655944] |
Chr18:55228898..55228909 [GRCh38] Chr18:52896129..52896140 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.1990G>T (p.Ala664Ser) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000531683]|Pitt-Hopkins syndrome [RCV002476174] |
Chr18:55228251 [GRCh38] Chr18:52895482 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1831C>A (p.Leu611Ile) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000533303] |
Chr18:55228895 [GRCh38] Chr18:52896126 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1965C>T (p.Ala655=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000645478]|not provided [RCV001704744] |
Chr18:55228276 [GRCh38] Chr18:52895507 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.655+4A>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000534710] |
Chr18:55279547 [GRCh38] Chr18:52946778 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1469C>G (p.Pro490Arg) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000535942] |
Chr18:55234565 [GRCh38] Chr18:52901796 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.146-11C>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002065348]|not specified [RCV000607261] |
Chr18:55464148 [GRCh38] Chr18:53131379 [GRCh37] Chr18:18q21.2 |
benign|likely benign |
NM_001083962.2(TCF4):c.1486+4G>C |
single nucleotide variant |
Inborn genetic diseases [RCV002311960]|Pitt-Hopkins syndrome [RCV000936285]|not specified [RCV000603538] |
Chr18:55234544 [GRCh38] Chr18:52901775 [GRCh37] Chr18:18q21.2 |
benign|likely benign|uncertain significance |
NM_001083962.2(TCF4):c.-21+20G>A |
single nucleotide variant |
not specified [RCV000602077] |
Chr18:55588018 [GRCh38] Chr18:53255249 [GRCh37] Chr18:18q21.2 |
likely benign |
GRCh37/hg19 18q12.1-23(chr18:31879854-78014123)x3 |
copy number gain |
See cases [RCV000512425] |
Chr18:31879854..78014123 [GRCh37] Chr18:18q12.1-23 |
pathogenic |
NM_001083962.2(TCF4):c.216A>C (p.Gly72=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000871169]|TCF4-related disorder [RCV004740367]|not specified [RCV000605663] |
Chr18:55461107 [GRCh38] Chr18:53128338 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.913_920del (p.Ser305fs) |
deletion |
not provided [RCV000656305] |
Chr18:55269833..55269840 [GRCh38] Chr18:52937064..52937071 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.922+15T>C |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002529410]|not specified [RCV000600079] |
Chr18:55269816 [GRCh38] Chr18:52937047 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.2000A>G (p.His667Arg) |
single nucleotide variant |
not provided [RCV000513060] |
Chr18:55228241 [GRCh38] Chr18:52895472 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1318G>A (p.Gly440Ser) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001522872]|not provided [RCV000645475] |
Chr18:55254529 [GRCh38] Chr18:52921760 [GRCh37] Chr18:18q21.2 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001083962.2(TCF4):c.182A>G (p.Asn61Ser) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000645477]|Pitt-Hopkins syndrome [RCV005027764] |
Chr18:55464101 [GRCh38] Chr18:53131332 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1032C>T (p.Asn344=) |
single nucleotide variant |
Inborn genetic diseases [RCV002388102]|Pitt-Hopkins syndrome [RCV001088331]|not provided [RCV000827426] |
Chr18:55259986 [GRCh38] Chr18:52927217 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.571A>G (p.Thr191Ala) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001516787] |
Chr18:55279635 [GRCh38] Chr18:52946866 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.1772_1776delinsCT (p.Leu591_Gly592delinsPro) |
indel |
Inborn genetic diseases [RCV000622407] |
Chr18:55228950..55228954 [GRCh38] Chr18:52896181..52896185 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.931G>T (p.Gly311Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV000623010] |
Chr18:55261525 [GRCh38] Chr18:52928756 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1916_1917del (p.Arg639fs) |
deletion |
Pitt-Hopkins syndrome [RCV001507066]|not provided [RCV000627504] |
Chr18:55228324..55228325 [GRCh38] Chr18:52895555..52895556 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.1440G>C (p.Gln480His) |
single nucleotide variant |
not provided [RCV000658275] |
Chr18:55234594 [GRCh38] Chr18:52901825 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1489A>G (p.Met497Val) |
single nucleotide variant |
not provided [RCV000657860] |
Chr18:55232669 [GRCh38] Chr18:52899900 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1512_1513insTAGTCCAG (p.Ser505Ter) |
insertion |
Pitt-Hopkins syndrome [RCV000660297] |
Chr18:55232645..55232646 [GRCh38] Chr18:52899876..52899877 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.785G>A (p.Arg262His) |
single nucleotide variant |
Corneal dystrophy, Fuchs endothelial, 3 [RCV000662185]|Pitt-Hopkins syndrome [RCV000662184] |
Chr18:55275623 [GRCh38] Chr18:52942854 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.549+1G>T |
single nucleotide variant |
not provided [RCV000658808] |
Chr18:55350358 [GRCh38] Chr18:53017589 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.696del (p.Gly232_Met233insTer) |
deletion |
Pitt-Hopkins syndrome [RCV000681655] |
Chr18:55275712 [GRCh38] Chr18:52942943 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1034del (p.Pro345fs) |
deletion |
Pitt-Hopkins syndrome [RCV000680119] |
Chr18:55259984 [GRCh38] Chr18:52927215 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.937_941del (p.Gly313fs) |
deletion |
Pitt-Hopkins syndrome [RCV000680121] |
Chr18:55261515..55261519 [GRCh38] Chr18:52928746..52928750 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.639C>T (p.Ser213=) |
single nucleotide variant |
Inborn genetic diseases [RCV002314372]|Pitt-Hopkins syndrome [RCV000870232]|not provided [RCV001597208] |
Chr18:55279567 [GRCh38] Chr18:52946798 [GRCh37] Chr18:18q21.2 |
benign|likely benign |
NM_001083962.2(TCF4):c.1292del (p.Gly431fs) |
deletion |
Pitt-Hopkins syndrome [RCV000680120] |
Chr18:55254555 [GRCh38] Chr18:52921786 [GRCh37] Chr18:18q21.2 |
pathogenic |
GRCh37/hg19 18q12.2-21.31(chr18:35866313-55082983)x3 |
copy number gain |
not provided [RCV000684057] |
Chr18:35866313..55082983 [GRCh37] Chr18:18q12.2-21.31 |
pathogenic |
GRCh37/hg19 18q21.1-23(chr18:46942427-78014123)x1 |
copy number loss |
not provided [RCV000684060] |
Chr18:46942427..78014123 [GRCh37] Chr18:18q21.1-23 |
pathogenic |
NM_001083962.2(TCF4):c.1619A>T (p.Asp540Val) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000678972] |
Chr18:55232539 [GRCh38] Chr18:52899770 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1849G>T (p.Val617Phe) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000678346] |
Chr18:55228877 [GRCh38] Chr18:52896108 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.-21+2T>A |
single nucleotide variant |
Corneal dystrophy, Fuchs endothelial, 3 [RCV000678340]|not provided [RCV001766455] |
Chr18:55588036 [GRCh38] Chr18:53255267 [GRCh37] Chr18:18q21.2 |
uncertain significance |
GRCh37/hg19 18q21.2(chr18:53011022-53131802)x1 |
copy number loss |
not provided [RCV000683976] |
Chr18:53011022..53131802 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.742_743del (p.Ile248fs) |
microsatellite |
Pitt-Hopkins syndrome [RCV000684922] |
Chr18:55275665..55275666 [GRCh38] Chr18:52942896..52942897 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1146+3A>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000685198] |
Chr18:55257312 [GRCh38] Chr18:52924543 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.995A>G (p.Tyr332Cys) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000699856]|TCF4-related disorder [RCV003983172] |
Chr18:55260023 [GRCh38] Chr18:52927254 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1289T>G (p.Met430Arg) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000704202] |
Chr18:55254558 [GRCh38] Chr18:52921789 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.602_610dup (p.Tyr201_Ser203dup) |
duplication |
Pitt-Hopkins syndrome [RCV000690939] |
Chr18:55279595..55279596 [GRCh38] Chr18:52946826..52946827 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.146-3T>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000700153] |
Chr18:55464140 [GRCh38] Chr18:53131371 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1552G>T (p.Glu518Ter) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000700659] |
Chr18:55232606 [GRCh38] Chr18:52899837 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.839T>C (p.Met280Thr) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000692498]|not provided [RCV001766486] |
Chr18:55269914 [GRCh38] Chr18:52937145 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.740dup (p.His247fs) |
duplication |
Pitt-Hopkins syndrome [RCV000689642] |
Chr18:55275667..55275668 [GRCh38] Chr18:52942898..52942899 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.290A>G (p.Asn97Ser) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000695717] |
Chr18:55461033 [GRCh38] Chr18:53128264 [GRCh37] Chr18:18q21.2 |
likely benign|uncertain significance |
NM_001083962.2(TCF4):c.1283G>T (p.Gly428Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002315997]|Pitt-Hopkins syndrome [RCV000696327]|not provided [RCV001255114] |
Chr18:55254564 [GRCh38] Chr18:52921795 [GRCh37] Chr18:18q21.2 |
likely benign|uncertain significance |
NM_001083962.2(TCF4):c.1841C>T (p.Ala614Val) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000705624]|not provided [RCV001561077] |
Chr18:55228885 [GRCh38] Chr18:52896116 [GRCh37] Chr18:18q21.2 |
pathogenic|likely pathogenic |
NM_001083962.2(TCF4):c.1650-9G>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000700487] |
Chr18:55229085 [GRCh38] Chr18:52896316 [GRCh37] Chr18:18q21.2 |
likely benign|uncertain significance |
NM_001083962.2(TCF4):c.1527del (p.Ser510fs) |
deletion |
Pitt-Hopkins syndrome [RCV000696955]|not provided [RCV004723092] |
Chr18:55232631 [GRCh38] Chr18:52899862 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.469del (p.Arg157fs) |
deletion |
Inborn genetic diseases [RCV002318690]|Pitt-Hopkins syndrome [RCV000990105]|not provided [RCV000734489] |
Chr18:55350904 [GRCh38] Chr18:53018135 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1683G>A (p.Gln561=) |
single nucleotide variant |
Inborn genetic diseases [RCV002317962] |
Chr18:55229043 [GRCh38] Chr18:52896274 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1598A>G (p.Lys533Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002317525]|Pitt-Hopkins syndrome [RCV001862073] |
Chr18:55232560 [GRCh38] Chr18:52899791 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.649A>T (p.Met217Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002318309]|Pitt-Hopkins syndrome [RCV001237542]|not provided [RCV001759439] |
Chr18:55279557 [GRCh38] Chr18:52946788 [GRCh37] Chr18:18q21.2 |
uncertain significance |
GRCh37/hg19 18q21.2-21.33(chr18:51036415-59275480)x1 |
copy number loss |
not provided [RCV000739822] |
Chr18:51036415..59275480 [GRCh37] Chr18:18q21.2-21.33 |
pathogenic |
GRCh37/hg19 18q21.2-23(chr18:52802515-78015180)x1 |
copy number loss |
not provided [RCV000739824] |
Chr18:52802515..78015180 [GRCh37] Chr18:18q21.2-23 |
pathogenic |
GRCh37/hg19 18q21.2(chr18:53234540-53237513)x3 |
copy number gain |
not provided [RCV000739826] |
Chr18:53234540..53237513 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.207+98_207+99insCTCTCA |
insertion |
not provided [RCV001544778] |
Chr18:55463977..55463978 [GRCh38] Chr18:53131208..53131209 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1069+122T>A |
single nucleotide variant |
not provided [RCV001585054] |
Chr18:55259827 [GRCh38] Chr18:52927058 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.990+2T>C |
single nucleotide variant |
not provided [RCV001543482] |
Chr18:55261464 [GRCh38] Chr18:52928695 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.207+98CA[14] |
microsatellite |
not provided [RCV001534870] |
Chr18:55463949..55463950 [GRCh38] Chr18:53131180..53131181 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.1011T>A (p.Thr337=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002540908] |
Chr18:55260007 [GRCh38] Chr18:52927238 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.8A>G (p.His3Arg) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003771680]|not provided [RCV001547548] |
Chr18:55587109 [GRCh38] Chr18:53254340 [GRCh37] Chr18:18q21.2 |
likely benign|uncertain significance |
NM_001083962.2(TCF4):c.975dup (p.Lys326fs) |
duplication |
Pitt-Hopkins syndrome [RCV003314292] |
Chr18:55261480..55261481 [GRCh38] Chr18:52928711..52928712 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.1705C>T (p.Arg569Trp) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000760226]|Pitt-Hopkins syndrome [RCV001855923] |
Chr18:55229021 [GRCh38] Chr18:52896252 [GRCh37] Chr18:18q21.2 |
pathogenic|likely pathogenic |
NM_001083962.2(TCF4):c.1146+2T>C |
single nucleotide variant |
Hereditary spastic paraplegia 4 [RCV003314498] |
Chr18:55257313 [GRCh38] Chr18:52924544 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.790-2A>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000990103] |
Chr18:55269965 [GRCh38] Chr18:52937196 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.990+12T>C |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002073240]|not provided [RCV001693518] |
Chr18:55261454 [GRCh38] Chr18:52928685 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.922+3G>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003225973]|not provided [RCV001570290] |
Chr18:55269828 [GRCh38] Chr18:52937059 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
GRCh37/hg19 18p11.32-q23(chr18:12842-78015180)x3 |
copy number gain |
not provided [RCV000752245] |
Chr18:12842..78015180 [GRCh37] Chr18:18p11.32-q23 |
pathogenic |
NM_001083962.2(TCF4):c.790-6C>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001045391] |
Chr18:55269969 [GRCh38] Chr18:52937200 [GRCh37] Chr18:18q21.2 |
likely benign|uncertain significance |
GRCh37/hg19 18p11.32-q23(chr18:13034-78015180)x3 |
copy number gain |
not provided [RCV000752246] |
Chr18:13034..78015180 [GRCh37] Chr18:18p11.32-q23 |
pathogenic |
GRCh37/hg19 18q21.2(chr18:53269093-53321026)x1 |
copy number loss |
See cases [RCV001007442] |
Chr18:53269093..53321026 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.858T>C (p.Ser286=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001469358] |
Chr18:55269895 [GRCh38] Chr18:52937126 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.465T>C (p.Asn155=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001424334] |
Chr18:55350908 [GRCh38] Chr18:53018139 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.456T>C (p.Ser152=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000951182] |
Chr18:55350917 [GRCh38] Chr18:53018148 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1486+6T>C |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002064496]|not provided [RCV000864592] |
Chr18:55234542 [GRCh38] Chr18:52901773 [GRCh37] Chr18:18q21.2 |
benign|likely benign |
NM_001083962.2(TCF4):c.1395T>C (p.His465=) |
single nucleotide variant |
not provided [RCV000901762] |
Chr18:55234639 [GRCh38] Chr18:52901870 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1089T>C (p.Ser363=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001476494] |
Chr18:55257372 [GRCh38] Chr18:52924603 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.41A>T (p.Lys14Ile) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001471145] |
Chr18:55587076 [GRCh38] Chr18:53254307 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.322T>A (p.Ser108Thr) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001061647] |
Chr18:55403501 [GRCh38] Chr18:53070732 [GRCh37] Chr18:18q21.2 |
benign|uncertain significance |
NM_001083962.2(TCF4):c.695G>A (p.Gly232Glu) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001049733] |
Chr18:55275713 [GRCh38] Chr18:52942944 [GRCh37] Chr18:18q21.2 |
uncertain significance |
GRCh37/hg19 18q21.2(chr18:53061085-53143573)x1 |
copy number loss |
not provided [RCV001006982] |
Chr18:53061085..53143573 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.795T>A (p.Tyr265Ter) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000995664] |
Chr18:55269958 [GRCh38] Chr18:52937189 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1594A>G (p.Lys532Glu) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001034080] |
Chr18:55232564 [GRCh38] Chr18:52899795 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.369+6_369+7del |
deletion |
Pitt-Hopkins syndrome [RCV001048813] |
Chr18:55403447..55403448 [GRCh38] Chr18:53070678..53070679 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.869A>G (p.His290Arg) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001060583] |
Chr18:55269884 [GRCh38] Chr18:52937115 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.789+7C>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001057676] |
Chr18:55275612 [GRCh38] Chr18:52942843 [GRCh37] Chr18:18q21.2 |
likely benign|uncertain significance |
NM_001083962.2(TCF4):c.550-1G>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000801759] |
Chr18:55279657 [GRCh38] Chr18:52946888 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.1218C>T (p.Gly406=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001467961] |
Chr18:55254629 [GRCh38] Chr18:52921860 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.660C>T (p.Gly220=) |
single nucleotide variant |
Inborn genetic diseases [RCV002363247]|Pitt-Hopkins syndrome [RCV000868640]|TCF4-related disorder [RCV003895289] |
Chr18:55275748 [GRCh38] Chr18:52942979 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1067C>A (p.Ser356Ter) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000857224] |
Chr18:55259951 [GRCh38] Chr18:52927182 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1174A>C (p.Arg392=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000940678] |
Chr18:55254673 [GRCh38] Chr18:52921904 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.84T>C (p.Pro28=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001483426] |
Chr18:55585341 [GRCh38] Chr18:53252572 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1383G>A (p.Leu461=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001453328] |
Chr18:55234651 [GRCh38] Chr18:52901882 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1194T>C (p.His398=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000868556] |
Chr18:55254653 [GRCh38] Chr18:52921884 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.1650-323C>A |
single nucleotide variant |
not provided [RCV000827594] |
Chr18:55229399 [GRCh38] Chr18:52896630 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.466C>A (p.Pro156Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002336717]|Pitt-Hopkins syndrome [RCV000822946]|not provided [RCV001561690] |
Chr18:55350907 [GRCh38] Chr18:53018138 [GRCh37] Chr18:18q21.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001083962.2(TCF4):c.278C>T (p.Pro93Leu) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000822967] |
Chr18:55461045 [GRCh38] Chr18:53128276 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*5-62A>G |
single nucleotide variant |
not provided [RCV000832480] |
Chr18:55228092 [GRCh38] Chr18:52895323 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.146-46693C>T |
single nucleotide variant |
not provided [RCV000834284] |
Chr18:55510830 [GRCh38] Chr18:53178061 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.146-46406C>G |
single nucleotide variant |
not provided [RCV000834285] |
Chr18:55510543 [GRCh38] Chr18:53177774 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.1710G>C (p.Arg570Ser) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000824850] |
Chr18:55229016 [GRCh38] Chr18:52896247 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.146-46372T>A |
single nucleotide variant |
not provided [RCV000834286] |
Chr18:55510509 [GRCh38] Chr18:53177740 [GRCh37] Chr18:18q21.2 |
benign |
NM_001243230.2(TCF4):c.13A>G (p.Lys5Glu) |
single nucleotide variant |
not provided [RCV000993285] |
Chr18:55588523 [GRCh38] Chr18:53255754 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1419G>T (p.Pro473=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001489963]|not provided [RCV000993286] |
Chr18:55234615 [GRCh38] Chr18:52901846 [GRCh37] Chr18:18q21.2 |
benign|likely benign |
NM_001083962.2(TCF4):c.760T>C (p.Tyr254His) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000807995] |
Chr18:55275648 [GRCh38] Chr18:52942879 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.790-192C>G |
single nucleotide variant |
not provided [RCV000836452] |
Chr18:55270155 [GRCh38] Chr18:52937386 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.990+179_990+182dup |
duplication |
not provided [RCV000836453] |
Chr18:55261283..55261284 [GRCh38] Chr18:52928514..52928515 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.923-224C>T |
single nucleotide variant |
not provided [RCV000836478] |
Chr18:55261757 [GRCh38] Chr18:52928988 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.500-88G>A |
single nucleotide variant |
not provided [RCV000829982] |
Chr18:55350496 [GRCh38] Chr18:53017727 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1351-84_1351-81dup |
duplication |
not provided [RCV000829983] |
Chr18:55234763..55234764 [GRCh38] Chr18:52901994..52901995 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1879+78T>C |
single nucleotide variant |
not provided [RCV000829985] |
Chr18:55228769 [GRCh38] Chr18:52896000 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.369+243C>T |
single nucleotide variant |
not provided [RCV000838537] |
Chr18:55403211 [GRCh38] Chr18:53070442 [GRCh37] Chr18:18q21.2 |
likely benign |
NC_000018.10:g.55232676C>T |
single nucleotide variant |
not provided [RCV000835025] |
Chr18:52899907 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1880-132C>T |
single nucleotide variant |
not provided [RCV000836897] |
Chr18:55228493 [GRCh38] Chr18:52895724 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1146+229G>C |
single nucleotide variant |
not provided [RCV000829864] |
Chr18:55257086 [GRCh38] Chr18:52924317 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.*5-68T>A |
single nucleotide variant |
not provided [RCV000829986] |
Chr18:55228098 [GRCh38] Chr18:52895329 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.500-232A>G |
single nucleotide variant |
not provided [RCV000836995] |
Chr18:55350640 [GRCh38] Chr18:53017871 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001243226.3(TCF4):c.28= (p.Pro10=) |
variation |
Pitt-Hopkins syndrome [RCV000990106] |
Chr18:55635870 [GRCh38] Chr18:53303101 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.446A>G (p.Tyr149Cys) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000809153]|not provided [RCV001545076] |
Chr18:55350927 [GRCh38] Chr18:53018158 [GRCh37] Chr18:18q21.2 |
likely benign|uncertain significance |
NM_001083962.2(TCF4):c.923-2A>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000813294]|not provided [RCV004588283] |
Chr18:55261535 [GRCh38] Chr18:52928766 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1879+75T>C |
single nucleotide variant |
not provided [RCV000829984] |
Chr18:55228772 [GRCh38] Chr18:52896003 [GRCh37] Chr18:18q21.2 |
benign |
NC_000018.10:g.55403683G>A |
single nucleotide variant |
not provided [RCV000834287] |
Chr18:53070914 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.1989C>T (p.Asp663=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001392583]|not provided [RCV000828257]|not specified [RCV003987718] |
Chr18:55228252 [GRCh38] Chr18:52895483 [GRCh37] Chr18:18q21.2 |
likely benign |
NC_000018.9:g.(?_52895436)_(53303148_?)dup |
duplication |
Pitt-Hopkins syndrome [RCV000821280] |
Chr18:55228205..55635917 [GRCh38] Chr18:52895436..53303148 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.224C>T (p.Thr75Ile) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000820885] |
Chr18:55461099 [GRCh38] Chr18:53128330 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.146-46302A>G |
single nucleotide variant |
not provided [RCV000839565] |
Chr18:55510439 [GRCh38] Chr18:53177670 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.550-190C>T |
single nucleotide variant |
not provided [RCV000836476] |
Chr18:55279846 [GRCh38] Chr18:52947077 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.550-101G>A |
single nucleotide variant |
not provided [RCV000836477] |
Chr18:55279757 [GRCh38] Chr18:52946988 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.1879+216G>A |
single nucleotide variant |
not provided [RCV000836479] |
Chr18:55228631 [GRCh38] Chr18:52895862 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.1070-73G>A |
single nucleotide variant |
not provided [RCV000832509] |
Chr18:55257464 [GRCh38] Chr18:52924695 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.699G>C (p.Met233Ile) |
single nucleotide variant |
not provided [RCV000996690] |
Chr18:55275709 [GRCh38] Chr18:52942940 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1328C>G (p.Ser443Ter) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000818658] |
Chr18:55254519 [GRCh38] Chr18:52921750 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1350+122G>A |
single nucleotide variant |
not provided [RCV000833535] |
Chr18:55254375 [GRCh38] Chr18:52921606 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.-41G>A |
single nucleotide variant |
not provided [RCV000840953] |
Chr18:55588058 [GRCh38] Chr18:53255289 [GRCh37] Chr18:18q21.2 |
likely benign |
NC_000018.10:g.55275596G>A |
single nucleotide variant |
not provided [RCV000829619] |
Chr18:52942827 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.1146+198A>G |
single nucleotide variant |
not provided [RCV000829863] |
Chr18:55257117 [GRCh38] Chr18:52924348 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.923-43G>A |
single nucleotide variant |
not provided [RCV000830043] |
Chr18:55261576 [GRCh38] Chr18:52928807 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1147-255_1350+179del |
deletion |
Pitt-Hopkins syndrome [RCV000824955] |
Chr18:55254318..55254955 [GRCh38] Chr18:52921549..52922186 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.1229_1232dup (p.Met411fs) |
duplication |
not provided [RCV001091650] |
Chr18:55254614..55254615 [GRCh38] Chr18:52921845..52921846 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.73-306G>A |
single nucleotide variant |
not provided [RCV000826309] |
Chr18:55585658 [GRCh38] Chr18:53252889 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.539del (p.Leu180fs) |
deletion |
Pitt-Hopkins syndrome [RCV000990104] |
Chr18:55350369 [GRCh38] Chr18:53017600 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.481C>T (p.Leu161Phe) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000817906] |
Chr18:55350892 [GRCh38] Chr18:53018123 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.370-243A>T |
single nucleotide variant |
not provided [RCV000836962] |
Chr18:55351246 [GRCh38] Chr18:53018477 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.593_602delinsGCCGACTACAATAGGGAC (p.Ser198_Tyr201delinsCysArgLeuGlnTer) |
indel |
Pitt-Hopkins syndrome [RCV000821900] |
Chr18:55279604..55279613 [GRCh38] Chr18:52946835..52946844 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1350+281C>A |
single nucleotide variant |
not provided [RCV000828888] |
Chr18:55254216 [GRCh38] Chr18:52921447 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.358G>T (p.Gly120Cys) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000794454] |
Chr18:55403465 [GRCh38] Chr18:53070696 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.423C>T (p.Pro141=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001457426] |
Chr18:55350950 [GRCh38] Chr18:53018181 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.991-142A>G |
single nucleotide variant |
not provided [RCV000831456] |
Chr18:55260169 [GRCh38] Chr18:52927400 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.1486+172T>C |
single nucleotide variant |
not provided [RCV000831457] |
Chr18:55234376 [GRCh38] Chr18:52901607 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.72+248C>T |
single nucleotide variant |
not provided [RCV000831492] |
Chr18:55586797 [GRCh38] Chr18:53254028 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.1070-202T>A |
single nucleotide variant |
not provided [RCV000838501] |
Chr18:55257593 [GRCh38] Chr18:52924824 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1147-69A>G |
single nucleotide variant |
not provided [RCV000829848] |
Chr18:55254769 [GRCh38] Chr18:52922000 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.1350+55A>G |
single nucleotide variant |
not provided [RCV000829849] |
Chr18:55254442 [GRCh38] Chr18:52921673 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.1880-65G>A |
single nucleotide variant |
not provided [RCV000829850] |
Chr18:55228426 [GRCh38] Chr18:52895657 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.656-116C>G |
single nucleotide variant |
not provided [RCV000835410] |
Chr18:55275868 [GRCh38] Chr18:52943099 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.145+226C>T |
single nucleotide variant |
not provided [RCV000829861] |
Chr18:55585054 [GRCh38] Chr18:53252285 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.1650-202C>T |
single nucleotide variant |
not provided [RCV000829865] |
Chr18:55229278 [GRCh38] Chr18:52896509 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.1304C>A (p.Ser435Ter) |
single nucleotide variant |
not provided [RCV003315061] |
Chr18:55254543 [GRCh38] Chr18:52921774 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.619G>T (p.Ala207Ser) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000824081] |
Chr18:55279587 [GRCh38] Chr18:52946818 [GRCh37] Chr18:18q21.2 |
likely benign|uncertain significance |
NM_001083962.2(TCF4):c.526del (p.Val176fs) |
deletion |
not provided [RCV001091652] |
Chr18:55350382 [GRCh38] Chr18:53017613 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001243226.3(TCF4):c.74del (p.Asn25fs) |
deletion |
Pitt-Hopkins syndrome [RCV002272403]|not provided [RCV001170028] |
Chr18:55635824 [GRCh38] Chr18:53303055 [GRCh37] Chr18:18q21.2 |
likely pathogenic|likely benign|conflicting interpretations of pathogenicity |
NM_001083962.2(TCF4):c.1609G>A (p.Asp537Asn) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001064911] |
Chr18:55232549 [GRCh38] Chr18:52899780 [GRCh37] Chr18:18q21.2 |
uncertain significance |
GRCh37/hg19 18q21.1-21.33(chr18:45621155-61416536)x3 |
copy number gain |
not provided [RCV000847118] |
Chr18:45621155..61416536 [GRCh37] Chr18:18q21.1-21.33 |
pathogenic |
NM_003199.2(TCF4):c.-458A>C |
single nucleotide variant |
not provided [RCV000996691] |
Chr18:55588475 [GRCh38] Chr18:53255706 [GRCh37] Chr18:18q21.2 |
uncertain significance |
GRCh37/hg19 18q21.2(chr18:52640139-53090100)x3 |
copy number gain |
not provided [RCV000847073] |
Chr18:52640139..53090100 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1486G>T (p.Gly496Cys) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000851328] |
Chr18:55234548 [GRCh38] Chr18:52901779 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.1738_1740del (p.Arg580del) |
deletion |
Intellectual disability [RCV000851504] |
Chr18:55228986..55228988 [GRCh38] Chr18:52896217..52896219 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
GRCh37/hg19 18q21.2(chr18:53144168-53366573)x3 |
copy number gain |
not provided [RCV000849744] |
Chr18:53144168..53366573 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1879+10G>C |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001498327] |
Chr18:55228837 [GRCh38] Chr18:52896068 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1244del (p.His415fs) |
deletion |
not provided [RCV001009051] |
Chr18:55254603 [GRCh38] Chr18:52921834 [GRCh37] Chr18:18q21.2 |
pathogenic |
GRCh37/hg19 18q21.2(chr18:53100586-53238245)x1 |
copy number loss |
not provided [RCV001006983] |
Chr18:53100586..53238245 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.41_42del (p.Lys14fs) |
deletion |
not provided [RCV001009167] |
Chr18:55587075..55587076 [GRCh38] Chr18:53254306..53254307 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.918_922+8del |
deletion |
Pitt-Hopkins syndrome [RCV000990102] |
Chr18:55269823..55269835 [GRCh38] Chr18:52937054..52937066 [GRCh37] Chr18:18q21.2 |
pathogenic |
GRCh37/hg19 18q21.2(chr18:52956790-53108471)x1 |
copy number loss |
not provided [RCV001006981] |
Chr18:52956790..53108471 [GRCh37] Chr18:18q21.2 |
pathogenic |
GRCh37/hg19 18q21.2-23(chr18:49460596-78014123)x1 |
copy number loss |
not provided [RCV001007016] |
Chr18:49460596..78014123 [GRCh37] Chr18:18q21.2-23 |
pathogenic |
NM_001083962.2(TCF4):c.836C>T (p.Pro279Leu) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001045050] |
Chr18:55269917 [GRCh38] Chr18:52937148 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.923-27T>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000990101]|not provided [RCV004704395] |
Chr18:55261560 [GRCh38] Chr18:52928791 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1203del (p.Asn402fs) |
deletion |
Pitt-Hopkins syndrome [RCV001226861] |
Chr18:55254644 [GRCh38] Chr18:52921875 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.762del (p.Cys255fs) |
deletion |
Pitt-Hopkins syndrome [RCV001227333] |
Chr18:55275646 [GRCh38] Chr18:52942877 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1720A>G (p.Asn574Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV001266027]|Pitt-Hopkins syndrome [RCV001221156] |
Chr18:55229006 [GRCh38] Chr18:52896237 [GRCh37] Chr18:18q21.2 |
pathogenic|likely pathogenic |
NM_001083962.2(TCF4):c.717del (p.Gly240fs) |
deletion |
Pitt-Hopkins syndrome [RCV001238298] |
Chr18:55275691 [GRCh38] Chr18:52942922 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.998C>T (p.Ser333Phe) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001238426] |
Chr18:55260020 [GRCh38] Chr18:52927251 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.1481_1482insAA (p.Tyr494Ter) |
insertion |
Pitt-Hopkins syndrome [RCV001229484] |
Chr18:55234552..55234553 [GRCh38] Chr18:52901783..52901784 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.*3397T>A |
single nucleotide variant |
not provided [RCV003312415] |
Chr18:55224638 [GRCh38] Chr18:52891869 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.655+2T>G |
single nucleotide variant |
not provided [RCV003312417] |
Chr18:55279549 [GRCh38] Chr18:52946780 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.935G>A (p.Ser312Asn) |
single nucleotide variant |
not provided [RCV003313649] |
Chr18:55261521 [GRCh38] Chr18:52928752 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.789+18G>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001198691] |
Chr18:55275601 [GRCh38] Chr18:52942832 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.*2354A>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001127302] |
Chr18:55225681 [GRCh38] Chr18:52892912 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*2282C>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001127304] |
Chr18:55225753 [GRCh38] Chr18:52892984 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*1983T>C |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001127305] |
Chr18:55226052 [GRCh38] Chr18:52893283 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*1931G>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001127307] |
Chr18:55226104 [GRCh38] Chr18:52893335 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*1914C>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001127308] |
Chr18:55226121 [GRCh38] Chr18:52893352 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1135_1136insGT (p.Leu379fs) |
insertion |
not provided [RCV001008637] |
Chr18:55257325..55257326 [GRCh38] Chr18:52924556..52924557 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.*5480G>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001123054] |
Chr18:55222555 [GRCh38] Chr18:52889786 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*5479G>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001123055] |
Chr18:55222556 [GRCh38] Chr18:52889787 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*5457T>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001123056] |
Chr18:55222578 [GRCh38] Chr18:52889809 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*3386A>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001123133] |
Chr18:55224649 [GRCh38] Chr18:52891880 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1154G>A (p.Arg385Gln) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001230328] |
Chr18:55254693 [GRCh38] Chr18:52921924 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.-87G>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001123420] |
Chr18:55588104 [GRCh38] Chr18:53255335 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.-113C>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001123422] |
Chr18:55588130 [GRCh38] Chr18:53255361 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*4907G>C |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001126788] |
Chr18:55223128 [GRCh38] Chr18:52890359 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.665dup (p.His222fs) |
duplication |
not provided [RCV001200417] |
Chr18:55275742..55275743 [GRCh38] Chr18:52942973..52942974 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1717A>G (p.Asn573Asp) |
single nucleotide variant |
Developmental disorder [RCV003127256] |
Chr18:55229009 [GRCh38] Chr18:52896240 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1499G>T (p.Gly500Val) |
single nucleotide variant |
Intellectual disability [RCV003128030] |
Chr18:55232659 [GRCh38] Chr18:52899890 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1831C>G (p.Leu611Val) |
single nucleotide variant |
not provided [RCV001564729] |
Chr18:55228895 [GRCh38] Chr18:52896126 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.207+94C>G |
single nucleotide variant |
not provided [RCV001569257] |
Chr18:55463982 [GRCh38] Chr18:53131213 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.207+98CA[11] |
microsatellite |
not provided [RCV001552118] |
Chr18:55463949..55463956 [GRCh38] Chr18:53131180..53131187 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.207+128G>C |
single nucleotide variant |
not provided [RCV001548563] |
Chr18:55463948 [GRCh38] Chr18:53131179 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001243226.3(TCF4):c.258C>G (p.Thr86=) |
single nucleotide variant |
not provided [RCV004811349] |
Chr18:55631326 [GRCh38] Chr18:53298557 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.677C>G (p.Pro226Arg) |
single nucleotide variant |
not provided [RCV004812876] |
Chr18:55275731 [GRCh38] Chr18:52942962 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.207+98CA[16] |
microsatellite |
not provided [RCV001559975] |
Chr18:55463948..55463949 [GRCh38] Chr18:53131179..53131180 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.200C>T (p.Pro67Leu) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001865973]|not provided [RCV001560534] |
Chr18:55464083 [GRCh38] Chr18:53131314 [GRCh37] Chr18:18q21.2 |
likely benign|uncertain significance |
NM_001083962.2(TCF4):c.1849G>A (p.Val617Ile) |
single nucleotide variant |
not provided [RCV001576725] |
Chr18:55228877 [GRCh38] Chr18:52896108 [GRCh37] Chr18:18q21.2 |
pathogenic|likely pathogenic |
NM_001083962.2(TCF4):c.207+98CA[18] |
microsatellite |
not provided [RCV001672239] |
Chr18:55463948..55463949 [GRCh38] Chr18:53131179..53131180 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.207+98_207+99insCTCA |
insertion |
not provided [RCV001667433] |
Chr18:55463977..55463978 [GRCh38] Chr18:53131208..53131209 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.207+73TC[14] |
microsatellite |
not provided [RCV001710093] |
Chr18:55463977..55463978 [GRCh38] Chr18:53131208..53131209 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.146-275A>T |
single nucleotide variant |
not provided [RCV001570158] |
Chr18:55464412 [GRCh38] Chr18:53131643 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.207+98_207+99insCTCACA |
microsatellite |
not provided [RCV001552351] |
Chr18:55463977..55463978 [GRCh38] Chr18:53131208..53131209 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.207+97_207+104del |
deletion |
not provided [RCV001614282] |
Chr18:55463972..55463979 [GRCh38] Chr18:53131203..53131210 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.1351-153G>C |
single nucleotide variant |
not provided [RCV001552861] |
Chr18:55234836 [GRCh38] Chr18:52902067 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.305-10C>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV005092699] |
Chr18:55403528 [GRCh38] Chr18:53070759 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.969T>G (p.Ala323=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002066351] |
Chr18:55261487 [GRCh38] Chr18:52928718 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.123A>G (p.Ala41=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001424355] |
Chr18:55585302 [GRCh38] Chr18:53252533 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.550-8C>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000875160]|not provided [RCV001672975] |
Chr18:55279664 [GRCh38] Chr18:52946895 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001243226.3(TCF4):c.239C>T (p.Thr80Met) |
single nucleotide variant |
not provided [RCV000996692] |
Chr18:55631345 [GRCh38] Chr18:53298576 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1371T>C (p.Asp457=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV000899739] |
Chr18:55234663 [GRCh38] Chr18:52901894 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001243230.2(TCF4):c.58A>G (p.Lys20Glu) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001198596] |
Chr18:55588478 [GRCh38] Chr18:53255709 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.146-46442G>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001198683]|not provided [RCV003222253] |
Chr18:55510579 [GRCh38] Chr18:53177810 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.789+327T>G |
single nucleotide variant |
not provided [RCV001539514] |
Chr18:55275292 [GRCh38] Chr18:52942523 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1147-3C>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001209903]|not specified [RCV001174968] |
Chr18:55254703 [GRCh38] Chr18:52921934 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*4789G>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001126790] |
Chr18:55223246 [GRCh38] Chr18:52890477 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*708T>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001126994] |
Chr18:55227327 [GRCh38] Chr18:52894558 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.*4320A>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001127197] |
Chr18:55223715 [GRCh38] Chr18:52890946 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*3938G>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001127199] |
Chr18:55224097 [GRCh38] Chr18:52891328 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.*521G>C |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001127411] |
Chr18:55227514 [GRCh38] Chr18:52894745 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*294C>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001127414] |
Chr18:55227741 [GRCh38] Chr18:52894972 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*3338A>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001123134] |
Chr18:55224697 [GRCh38] Chr18:52891928 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*1747T>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001123233] |
Chr18:55226288 [GRCh38] Chr18:52893519 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.513G>C (p.Lys171Asn) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001216927] |
Chr18:55350395 [GRCh38] Chr18:53017626 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NC_000018.10:g.(?_55234528)_(55234703_?)del |
deletion |
Pitt-Hopkins syndrome [RCV001033873] |
Chr18:52901759..52901934 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.903C>T (p.Asn301=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001125433]|not provided [RCV001712855] |
Chr18:55269850 [GRCh38] Chr18:52937081 [GRCh37] Chr18:18q21.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_001083962.2(TCF4):c.370-5T>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001225436] |
Chr18:55351008 [GRCh38] Chr18:53018239 [GRCh37] Chr18:18q21.2 |
likely benign|uncertain significance |
NM_001083962.2(TCF4):c.1281T>C (p.Asn427=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001439075] |
Chr18:55254566 [GRCh38] Chr18:52921797 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1356del (p.Thr453fs) |
deletion |
Pitt-Hopkins syndrome [RCV002470405] |
Chr18:55234678 [GRCh38] Chr18:52901909 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.*4+34C>T |
single nucleotide variant |
not provided [RCV001621325] |
Chr18:55228187 [GRCh38] Chr18:52895418 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.1486+5G>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001563622] |
Chr18:55234543 [GRCh38] Chr18:52901774 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.404A>G (p.Asn135Ser) |
single nucleotide variant |
not provided [RCV001593855] |
Chr18:55350969 [GRCh38] Chr18:53018200 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1879+32G>A |
single nucleotide variant |
not provided [RCV001593984] |
Chr18:55228815 [GRCh38] Chr18:52896046 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.368A>G (p.Gln123Arg) |
single nucleotide variant |
not provided [RCV001553275] |
Chr18:55403455 [GRCh38] Chr18:53070686 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.369+1672A>G |
single nucleotide variant |
not provided [RCV003312418] |
Chr18:55401782 [GRCh38] Chr18:53069013 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.550-2A>C |
single nucleotide variant |
not provided [RCV002464674] |
Chr18:55279658 [GRCh38] Chr18:52946889 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.305-159dup |
duplication |
Pitt-Hopkins syndrome [RCV002472229] |
Chr18:55403676..55403677 [GRCh38] Chr18:53070907..53070908 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1106C>A (p.Ala369Asp) |
single nucleotide variant |
Oculomotor apraxia [RCV001263440]|Pitt-Hopkins syndrome [RCV001880058]|not provided [RCV001760308]|not specified [RCV004800947] |
Chr18:55257355 [GRCh38] Chr18:52924586 [GRCh37] Chr18:18q21.2 |
likely benign|uncertain significance |
NM_001083962.2(TCF4):c.72+204del |
deletion |
not provided [RCV001722828] |
Chr18:55586841 [GRCh38] Chr18:53254072 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.208-122C>A |
single nucleotide variant |
not provided [RCV001676442] |
Chr18:55461237 [GRCh38] Chr18:53128468 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.207+97_207+102del |
deletion |
not provided [RCV001590728] |
Chr18:55463974..55463979 [GRCh38] Chr18:53131205..53131210 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.207+98CA[17] |
microsatellite |
not provided [RCV001673345] |
Chr18:55463948..55463949 [GRCh38] Chr18:53131179..53131180 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.207+129_207+130insAC |
insertion |
not provided [RCV001598515] |
Chr18:55463946..55463947 [GRCh38] Chr18:53131177..53131178 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1966G>A (p.Gly656Ser) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001034281] |
Chr18:55228275 [GRCh38] Chr18:52895506 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.*1855G>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001123232] |
Chr18:55226180 [GRCh38] Chr18:52893411 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*5339A>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001124124] |
Chr18:55222696 [GRCh38] Chr18:52889927 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.148G>T (p.Val50Leu) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001034482] |
Chr18:55464135 [GRCh38] Chr18:53131366 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.922+1G>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001252366] |
Chr18:55269830 [GRCh38] Chr18:52937061 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.637_639delinsCTTCATGCAACCAGCACTT (p.Ser213fs) |
indel |
Pitt-Hopkins syndrome [RCV001253783] |
Chr18:55279567..55279569 [GRCh38] Chr18:52946798..52946800 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.*1739G>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001124333] |
Chr18:55226296 [GRCh38] Chr18:52893527 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.343G>C (p.Glu115Gln) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001071212] |
Chr18:55403480 [GRCh38] Chr18:53070711 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.1(TCF4):c.-605G>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001124522] |
Chr18:55588622 [GRCh38] Chr18:53255853 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.939G>A (p.Gly313=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001125432] |
Chr18:55261517 [GRCh38] Chr18:52928748 [GRCh37] Chr18:18q21.2 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_001083962.2(TCF4):c.294del (p.Arg99fs) |
deletion |
Pitt-Hopkins syndrome [RCV001027865] |
Chr18:55461029 [GRCh38] Chr18:53128260 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1139del (p.His380fs) |
deletion |
not provided [RCV001091651] |
Chr18:55257322 [GRCh38] Chr18:52924553 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.*4833A>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001126789] |
Chr18:55223202 [GRCh38] Chr18:52890433 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*4623A>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001126792] |
Chr18:55223412 [GRCh38] Chr18:52890643 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*2300G>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001127303] |
Chr18:55225735 [GRCh38] Chr18:52892966 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*5124G>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001126787] |
Chr18:55222911 [GRCh38] Chr18:52890142 [GRCh37] Chr18:18q21.2 |
uncertain significance |
GRCh37/hg19 18q21.2(chr18:51802787-53000275)x3 |
copy number gain |
See cases [RCV001007426] |
Chr18:51802787..53000275 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*4246G>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001127198] |
Chr18:55223789 [GRCh38] Chr18:52891020 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.-77C>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001127540] |
Chr18:55588094 [GRCh38] Chr18:53255325 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*452T>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001127412]|not provided [RCV003311948] |
Chr18:55227583 [GRCh38] Chr18:52894814 [GRCh37] Chr18:18q21.2 |
likely benign|uncertain significance |
NM_001083962.2(TCF4):c.*272G>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001127415] |
Chr18:55227763 [GRCh38] Chr18:52894994 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*3563A>C |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001123132] |
Chr18:55224472 [GRCh38] Chr18:52891703 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*3209A>C |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001124215] |
Chr18:55224826 [GRCh38] Chr18:52892057 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*3130C>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001124216] |
Chr18:55224905 [GRCh38] Chr18:52892136 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*3014C>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001124217] |
Chr18:55225021 [GRCh38] Chr18:52892252 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NC_000018.10:g.(?_55228205)_(55403734_?)dup |
duplication |
Pitt-Hopkins syndrome [RCV001032555] |
Chr18:52895436..53070965 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.305-53dup |
duplication |
not provided [RCV001587490] |
Chr18:55403562..55403563 [GRCh38] Chr18:53070793..53070794 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.*10A>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001542411] |
Chr18:55228025 [GRCh38] Chr18:52895256 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.73A>G (p.Met25Val) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001050399] |
Chr18:55585352 [GRCh38] Chr18:53252583 [GRCh37] Chr18:18q21.2 |
likely benign|uncertain significance |
NM_001083962.2(TCF4):c.145+123C>T |
single nucleotide variant |
not provided [RCV001615826] |
Chr18:55585157 [GRCh38] Chr18:53252388 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.990+192C>T |
single nucleotide variant |
not provided [RCV001643307] |
Chr18:55261274 [GRCh38] Chr18:52928505 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.1681del (p.Gln561fs) |
deletion |
Pitt-Hopkins syndrome [RCV001204774] |
Chr18:55229045 [GRCh38] Chr18:52896276 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.107G>A (p.Gly36Glu) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001235024] |
Chr18:55585318 [GRCh38] Chr18:53252549 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1349T>C (p.Met450Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002553836]|Pitt-Hopkins syndrome [RCV001057566]|not specified [RCV005418975] |
Chr18:55254498 [GRCh38] Chr18:52921729 [GRCh37] Chr18:18q21.2 |
benign|uncertain significance |
NM_001083962.2(TCF4):c.1646C>G (p.Ser549Cys) |
single nucleotide variant |
not provided [RCV001091649] |
Chr18:55232512 [GRCh38] Chr18:52899743 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.*5369C>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001124123] |
Chr18:55222666 [GRCh38] Chr18:52889897 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.*1443C>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001124334] |
Chr18:55226592 [GRCh38] Chr18:52893823 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*1017G>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001124336] |
Chr18:55227018 [GRCh38] Chr18:52894249 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1267G>C (p.Gly423Arg) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001235064] |
Chr18:55254580 [GRCh38] Chr18:52921811 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1772T>C (p.Leu591Pro) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001059274] |
Chr18:55228954 [GRCh38] Chr18:52896185 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.145+6T>C |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001034078] |
Chr18:55585274 [GRCh38] Chr18:53252505 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1619A>G (p.Asp540Gly) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001213733] |
Chr18:55232539 [GRCh38] Chr18:52899770 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.721A>T (p.Met241Leu) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001203505] |
Chr18:55275687 [GRCh38] Chr18:52942918 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*4752A>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001126791] |
Chr18:55223283 [GRCh38] Chr18:52890514 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1952C>A (p.Pro651His) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001123338] |
Chr18:55228289 [GRCh38] Chr18:52895520 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.1(TCF4):c.-184T>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001123423] |
Chr18:55588201 [GRCh38] Chr18:53255432 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*819A>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001126993] |
Chr18:55227216 [GRCh38] Chr18:52894447 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*4437G>C |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001127196] |
Chr18:55223598 [GRCh38] Chr18:52890829 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.589G>A (p.Asp197Asn) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001212416] |
Chr18:55279617 [GRCh38] Chr18:52946848 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1118dup (p.Pro373_Asn374insTer) |
duplication |
Pitt-Hopkins syndrome [RCV001027850] |
Chr18:55257342..55257343 [GRCh38] Chr18:52924573..52924574 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.*1959G>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001127306] |
Chr18:55226076 [GRCh38] Chr18:52893307 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*548C>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001127410] |
Chr18:55227487 [GRCh38] Chr18:52894718 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*295G>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001127413] |
Chr18:55227740 [GRCh38] Chr18:52894971 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.659G>A (p.Gly220Asp) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001040581] |
Chr18:55275749 [GRCh38] Chr18:52942980 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*2918A>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001124218] |
Chr18:55225117 [GRCh38] Chr18:52892348 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*1405T>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001124335] |
Chr18:55226630 [GRCh38] Chr18:52893861 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1501C>T (p.Leu501=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001124425]|not provided [RCV004597960] |
Chr18:55232657 [GRCh38] Chr18:52899888 [GRCh37] Chr18:18q21.2 |
benign|likely benign |
NM_001083962.2(TCF4):c.1036T>G (p.Ser346Ala) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001202549] |
Chr18:55259982 [GRCh38] Chr18:52927213 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*138G>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001123337] |
Chr18:55227897 [GRCh38] Chr18:52895128 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.-102G>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001123421] |
Chr18:55588119 [GRCh38] Chr18:53255350 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.823T>G (p.Ser275Ala) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001069110] |
Chr18:55269930 [GRCh38] Chr18:52937161 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.*5370G>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001124122] |
Chr18:55222665 [GRCh38] Chr18:52889896 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1777del (p.Arg593fs) |
deletion |
Pitt-Hopkins syndrome [RCV001069850] |
Chr18:55228949 [GRCh38] Chr18:52896180 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.904G>A (p.Gly302Arg) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001231724] |
Chr18:55269849 [GRCh38] Chr18:52937080 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1351G>A (p.Val451Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004963034]|Pitt-Hopkins syndrome [RCV001048465] |
Chr18:55234683 [GRCh38] Chr18:52901914 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.922+5G>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001063198] |
Chr18:55269826 [GRCh38] Chr18:52937057 [GRCh37] Chr18:18q21.2 |
pathogenic|uncertain significance |
GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3 |
copy number gain |
not provided [RCV001537911] |
Chr18:23626739..78014976 [GRCh37] Chr18:18q11.2-23 |
pathogenic |
NM_001083962.2(TCF4):c.1459_1462dup (p.Asn488fs) |
duplication |
Global developmental delay [RCV001255403] |
Chr18:55234571..55234572 [GRCh38] Chr18:52901802..52901803 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.458G>A (p.Ser153Asn) |
single nucleotide variant |
Microcephaly [RCV001252787] |
Chr18:55350915 [GRCh38] Chr18:53018146 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1813C>T (p.Gln605Ter) |
single nucleotide variant |
Microcephaly [RCV001252686]|Pitt-Hopkins syndrome [RCV003444736] |
Chr18:55228913 [GRCh38] Chr18:52896144 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.991-8_991-4del |
deletion |
Pitt-Hopkins syndrome [RCV001885065]|not provided [RCV001765836] |
Chr18:55260031..55260035 [GRCh38] Chr18:52927262..52927266 [GRCh37] Chr18:18q21.2 |
likely benign|uncertain significance |
NM_001083962.2(TCF4):c.1816A>C (p.Thr606Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV001266931] |
Chr18:55228910 [GRCh38] Chr18:52896141 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.1486+1G>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001255977] |
Chr18:55234547 [GRCh38] Chr18:52901778 [GRCh37] Chr18:18q21.2 |
pathogenic|likely pathogenic |
NM_001083962.2(TCF4):c.1879+1G>T |
single nucleotide variant |
not provided [RCV002280083] |
Chr18:55228846 [GRCh38] Chr18:52896077 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1899dup (p.Ala634fs) |
duplication |
not provided [RCV001267974] |
Chr18:55228341..55228342 [GRCh38] Chr18:52895572..52895573 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.808T>A (p.Ser270Thr) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001262615] |
Chr18:55269945 [GRCh38] Chr18:52937176 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001243226.3(TCF4):c.86T>C (p.Met29Thr) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001262626] |
Chr18:55635812 [GRCh38] Chr18:53303043 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.740A>G (p.His247Arg) |
single nucleotide variant |
not specified [RCV004782171] |
Chr18:55275668 [GRCh38] Chr18:52942899 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1295_1296del (p.Gly432fs) |
deletion |
not provided [RCV001268120] |
Chr18:55254551..55254552 [GRCh38] Chr18:52921782..52921783 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.719G>C (p.Gly240Ala) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001964313] |
Chr18:55275689 [GRCh38] Chr18:52942920 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.656-1G>A |
single nucleotide variant |
not provided [RCV001268809] |
Chr18:55275753 [GRCh38] Chr18:52942984 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.1832T>C (p.Leu611Pro) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV005401954]|not provided [RCV002284811] |
Chr18:55228894 [GRCh38] Chr18:52896125 [GRCh37] Chr18:18q21.2 |
pathogenic|likely pathogenic |
NM_001083962.2(TCF4):c.624del (p.Ser209fs) |
deletion |
Inborn genetic diseases [RCV001266927] |
Chr18:55279582 [GRCh38] Chr18:52946813 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1348A>G (p.Met450Val) |
single nucleotide variant |
Inborn genetic diseases [RCV004967992]|Pitt-Hopkins syndrome [RCV001308029]|not provided [RCV002508306] |
Chr18:55254499 [GRCh38] Chr18:52921730 [GRCh37] Chr18:18q21.2 |
likely benign|uncertain significance |
NM_001083962.2(TCF4):c.1951C>G (p.Pro651Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV004681137]|Pitt-Hopkins syndrome [RCV001351836] |
Chr18:55228290 [GRCh38] Chr18:52895521 [GRCh37] Chr18:18q21.2 |
likely benign|uncertain significance |
NM_001083962.2(TCF4):c.1778G>A (p.Arg593His) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001302137] |
Chr18:55228948 [GRCh38] Chr18:52896179 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1771C>T (p.Leu591Phe) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001337348] |
Chr18:55228955 [GRCh38] Chr18:52896186 [GRCh37] Chr18:18q21.2 |
likely pathogenic|uncertain significance |
GRCh37/hg19 18q21.2-23(chr18:51925586-78010032) |
copy number gain |
Global developmental delay [RCV001352665] |
Chr18:51925586..78010032 [GRCh37] Chr18:18q21.2-23 |
pathogenic |
NM_001083962.2(TCF4):c.548C>G (p.Ser183Ter) |
single nucleotide variant |
not provided [RCV001269639] |
Chr18:55350360 [GRCh38] Chr18:53017591 [GRCh37] Chr18:18q21.2 |
pathogenic |
Single allele |
deletion |
Intellectual disability, mild [RCV001787258] |
Chr18:53243454..53287927 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1650-6C>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001392587] |
Chr18:55229082 [GRCh38] Chr18:52896313 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1406C>T (p.Pro469Leu) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001373725] |
Chr18:55234628 [GRCh38] Chr18:52901859 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NC_000018.9:g.(?_52895436)_(53070965_?)dup |
duplication |
Pitt-Hopkins syndrome [RCV001295197] |
Chr18:52895436..53070965 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.146-136A>T |
single nucleotide variant |
not provided [RCV001538922] |
Chr18:55464273 [GRCh38] Chr18:53131504 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1448C>G (p.Thr483Ser) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001321438] |
Chr18:55234586 [GRCh38] Chr18:52901817 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.136A>G (p.Thr46Ala) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001345640] |
Chr18:55585289 [GRCh38] Chr18:53252520 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.350A>C (p.Asn117Thr) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001308535] |
Chr18:55403473 [GRCh38] Chr18:53070704 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.304A>C (p.Ser102Arg) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001299122] |
Chr18:55461019 [GRCh38] Chr18:53128250 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1201C>T (p.Arg401Trp) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001345819] |
Chr18:55254646 [GRCh38] Chr18:52921877 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1331C>T (p.Ala444Val) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001343825] |
Chr18:55254516 [GRCh38] Chr18:52921747 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.550-22803C>T |
single nucleotide variant |
not provided [RCV001356978] |
Chr18:55302459 [GRCh38] Chr18:52969690 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.554A>G (p.Tyr185Cys) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001296531] |
Chr18:55279652 [GRCh38] Chr18:52946883 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.220G>A (p.Gly74Arg) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001315237] |
Chr18:55461103 [GRCh38] Chr18:53128334 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.549+1_549+2dup |
duplication |
Pitt-Hopkins syndrome [RCV001348557] |
Chr18:55350356..55350357 [GRCh38] Chr18:53017587..53017588 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1806C>G (p.Asp602Glu) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001359240] |
Chr18:55228920 [GRCh38] Chr18:52896151 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.797C>T (p.Pro266Leu) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001371168] |
Chr18:55269956 [GRCh38] Chr18:52937187 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1744C>T (p.Arg582Cys) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001300533]|not provided [RCV002298925] |
Chr18:55228982 [GRCh38] Chr18:52896213 [GRCh37] Chr18:18q21.2 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_001083962.2(TCF4):c.671G>A (p.Ser224Asn) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001472918] |
Chr18:55275737 [GRCh38] Chr18:52942968 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.441G>C (p.Gln147His) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001522519]|not provided [RCV005369906] |
Chr18:55350932 [GRCh38] Chr18:53018163 [GRCh37] Chr18:18q21.2 |
benign|uncertain significance |
NM_001083962.2(TCF4):c.1171G>T (p.Glu391Ter) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001384836] |
Chr18:55254676 [GRCh38] Chr18:52921907 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1650-4A>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001451931] |
Chr18:55229080 [GRCh38] Chr18:52896311 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.370-8C>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001402944] |
Chr18:55351011 [GRCh38] Chr18:53018242 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.649A>C (p.Met217Leu) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001515996]|not specified [RCV001821822] |
Chr18:55279557 [GRCh38] Chr18:52946788 [GRCh37] Chr18:18q21.2 |
benign|uncertain significance |
NM_001083962.2(TCF4):c.1905G>C (p.Ala635=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001489067] |
Chr18:55228336 [GRCh38] Chr18:52895567 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.369+9G>C |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001474400] |
Chr18:55403445 [GRCh38] Chr18:53070676 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.520C>A (p.Arg174=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001456127]|not provided [RCV004704574] |
Chr18:55350388 [GRCh38] Chr18:53017619 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.576C>A (p.Ala192=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001462960]|not provided [RCV004598000] |
Chr18:55279630 [GRCh38] Chr18:52946861 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.145+7A>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001474497] |
Chr18:55585273 [GRCh38] Chr18:53252504 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1659C>T (p.Asp553=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001404369] |
Chr18:55229067 [GRCh38] Chr18:52896298 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.624C>G (p.Thr208=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001432446] |
Chr18:55279582 [GRCh38] Chr18:52946813 [GRCh37] Chr18:18q21.2 |
likely benign |
NC_000018.9:g.(?_52888562)_53256860del |
deletion |
Pitt-Hopkins syndrome [RCV001387477] |
|
pathogenic |
NM_001083962.2(TCF4):c.500-4T>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001443736] |
Chr18:55350412 [GRCh38] Chr18:53017643 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1656T>C (p.Asn552=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001439785] |
Chr18:55229070 [GRCh38] Chr18:52896301 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.36G>C (p.Thr12=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001449316] |
Chr18:55587081 [GRCh38] Chr18:53254312 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.696G>A (p.Gly232=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001417343] |
Chr18:55275712 [GRCh38] Chr18:52942943 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.770dup (p.His258fs) |
duplication |
Pitt-Hopkins syndrome [RCV001390496] |
Chr18:55275637..55275638 [GRCh38] Chr18:52942868..52942869 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1505dup (p.Gln504fs) |
duplication |
Pitt-Hopkins syndrome [RCV001381770] |
Chr18:55232652..55232653 [GRCh38] Chr18:52899883..52899884 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.361T>G (p.Cys121Gly) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001509805] |
Chr18:55403462 [GRCh38] Chr18:53070693 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.146-120G>T |
single nucleotide variant |
not provided [RCV001715611] |
Chr18:55464257 [GRCh38] Chr18:53131488 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.1050C>G (p.Gly350=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001477459] |
Chr18:55259968 [GRCh38] Chr18:52927199 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1147-76G>A |
single nucleotide variant |
not provided [RCV001674462] |
Chr18:55254776 [GRCh38] Chr18:52922007 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.237C>T (p.His79=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001494940] |
Chr18:55461086 [GRCh38] Chr18:53128317 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.810A>G (p.Ser270=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001457005] |
Chr18:55269943 [GRCh38] Chr18:52937174 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.146-5C>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001503393] |
Chr18:55464142 [GRCh38] Chr18:53131373 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.879C>T (p.Thr293=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001503452] |
Chr18:55269874 [GRCh38] Chr18:52937105 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1946C>T (p.Pro649Leu) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001476305] |
Chr18:55228295 [GRCh38] Chr18:52895526 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.655+9C>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001476536] |
Chr18:55279542 [GRCh38] Chr18:52946773 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.414C>G (p.Thr138=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001423728]|not specified [RCV005237803] |
Chr18:55350959 [GRCh38] Chr18:53018190 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1487-7T>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001456211] |
Chr18:55232678 [GRCh38] Chr18:52899909 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1617G>A (p.Lys539=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001468034] |
Chr18:55232541 [GRCh38] Chr18:52899772 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.550-12_550-2del |
deletion |
Pitt-Hopkins syndrome [RCV001377381] |
Chr18:55279658..55279668 [GRCh38] Chr18:52946889..52946899 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.991-1del |
deletion |
Pitt-Hopkins syndrome [RCV001379512] |
Chr18:55260028 [GRCh38] Chr18:52927259 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.499+8A>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001483973] |
Chr18:55350866 [GRCh38] Chr18:53018097 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.677del (p.Pro226fs) |
deletion |
Pitt-Hopkins syndrome [RCV001528123] |
Chr18:55275731 [GRCh38] Chr18:52942962 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.753C>T (p.Ser251=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001400853] |
Chr18:55275655 [GRCh38] Chr18:52942886 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.337G>T (p.Gly113Trp) |
single nucleotide variant |
not provided [RCV001508831] |
Chr18:55403486 [GRCh38] Chr18:53070717 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.708T>G (p.Pro236=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001456664] |
Chr18:55275700 [GRCh38] Chr18:52942931 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1504C>T (p.Gln502Ter) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001384784] |
Chr18:55232654 [GRCh38] Chr18:52899885 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.550-22780G>A |
single nucleotide variant |
Corneal dystrophy, Fuchs endothelial, 3 [RCV003225763] |
Chr18:55302436 [GRCh38] Chr18:52969667 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.549+28669T>C |
single nucleotide variant |
See cases [RCV002253047] |
Chr18:55321690 [GRCh38] Chr18:52988921 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.573T>C (p.Thr191=) |
single nucleotide variant |
not provided [RCV001727062] |
Chr18:55279633 [GRCh38] Chr18:52946864 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1392C>A (p.Ser464Arg) |
single nucleotide variant |
not provided [RCV004798478] |
Chr18:55234642 [GRCh38] Chr18:52901873 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.245G>A (p.Ser82Asn) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002077195]|not provided [RCV001755142] |
Chr18:55461078 [GRCh38] Chr18:53128309 [GRCh37] Chr18:18q21.2 |
benign|likely benign|uncertain significance |
NM_001083962.2(TCF4):c.755del (p.Ser252fs) |
deletion |
not provided [RCV001783856] |
Chr18:55275653 [GRCh38] Chr18:52942884 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.579C>G (p.Asp193Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003253723] |
Chr18:55279627 [GRCh38] Chr18:52946858 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1454_1455del (p.Pro485fs) |
deletion |
Pitt-Hopkins syndrome [RCV001785391] |
Chr18:55234579..55234580 [GRCh38] Chr18:52901810..52901811 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.322T>G (p.Ser108Ala) |
single nucleotide variant |
not provided [RCV001767012] |
Chr18:55403501 [GRCh38] Chr18:53070732 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1481dup (p.Tyr494Ter) |
duplication |
not provided [RCV001783855] |
Chr18:55234552..55234553 [GRCh38] Chr18:52901783..52901784 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.715G>C (p.Ala239Pro) |
single nucleotide variant |
not provided [RCV003238638] |
Chr18:55275693 [GRCh38] Chr18:52942924 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1165C>T (p.Arg389Cys) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001769978]|not provided [RCV001822000] |
Chr18:55254682 [GRCh38] Chr18:52921913 [GRCh37] Chr18:18q21.2 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_001083962.2(TCF4):c.990+1G>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001775439] |
Chr18:55261465 [GRCh38] Chr18:52928696 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.*4+1G>A |
single nucleotide variant |
not provided [RCV001770654] |
Chr18:55228220 [GRCh38] Chr18:52895451 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.529C>T (p.Pro177Ser) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002543906]|not provided [RCV001732799] |
Chr18:55350379 [GRCh38] Chr18:53017610 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.650T>C (p.Met217Thr) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001882812]|Pitt-Hopkins syndrome [RCV005396983]|not provided [RCV001754361] |
Chr18:55279556 [GRCh38] Chr18:52946787 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.562T>A (p.Ser188Thr) |
single nucleotide variant |
SUDDEN INFANT DEATH SYNDROME [RCV001787419] |
Chr18:55279644 [GRCh38] Chr18:52946875 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.560dup (p.Ser188fs) |
duplication |
Pitt-Hopkins syndrome [RCV001775344] |
Chr18:55279645..55279646 [GRCh38] Chr18:52946876..52946877 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.635C>G (p.Pro212Arg) |
single nucleotide variant |
not provided [RCV001752423] |
Chr18:55279571 [GRCh38] Chr18:52946802 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1379C>T (p.Ala460Val) |
single nucleotide variant |
not provided [RCV001768561] |
Chr18:55234655 [GRCh38] Chr18:52901886 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.988T>G (p.Ser330Ala) |
single nucleotide variant |
not provided [RCV001754022] |
Chr18:55261468 [GRCh38] Chr18:52928699 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.946G>A (p.Gly316Ser) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001885307]|not provided [RCV001816222] |
Chr18:55261510 [GRCh38] Chr18:52928741 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1817C>T (p.Thr606Ile) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001788532] |
Chr18:55228909 [GRCh38] Chr18:52896140 [GRCh37] Chr18:18q21.2 |
pathogenic|uncertain significance |
Single allele |
deletion |
Intellectual disability [RCV001787257] |
Chr18:1262336..53254747 [GRCh37] Chr18:18p11.32-q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1196T>C (p.Val399Ala) |
single nucleotide variant |
not provided [RCV001815841] |
Chr18:55254651 [GRCh38] Chr18:52921882 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.235C>G (p.His79Asp) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002542363]|not provided [RCV001806681] |
Chr18:55461088 [GRCh38] Chr18:53128319 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001243226.3(TCF4):c.59T>G (p.Phe20Cys) |
single nucleotide variant |
not provided [RCV001816223] |
Chr18:55635839 [GRCh38] Chr18:53303070 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1208A>T (p.His403Leu) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001809038] |
Chr18:55254639 [GRCh38] Chr18:52921870 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1663G>T (p.Glu555Ter) |
single nucleotide variant |
not provided [RCV001817860] |
Chr18:55229063 [GRCh38] Chr18:52896294 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1059A>G (p.Pro353=) |
single nucleotide variant |
not specified [RCV001819354] |
Chr18:55259959 [GRCh38] Chr18:52927190 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1397C>G (p.Ser466Cys) |
single nucleotide variant |
See cases [RCV004798144] |
Chr18:55234637 [GRCh38] Chr18:52901868 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1343C>G (p.Ser448Ter) |
single nucleotide variant |
not provided [RCV004798367] |
Chr18:55254504 [GRCh38] Chr18:52921735 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.947del (p.Gly316fs) |
deletion |
Pitt-Hopkins syndrome [RCV004799067] |
Chr18:55261509 [GRCh38] Chr18:52928740 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.1273del (p.Ser425fs) |
deletion |
Pitt-Hopkins syndrome [RCV004799066] |
Chr18:55254574 [GRCh38] Chr18:52921805 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.667A>G (p.Ser223Gly) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001814955] |
Chr18:55275741 [GRCh38] Chr18:52942972 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.577G>A (p.Asp193Asn) |
single nucleotide variant |
not provided [RCV001824486] |
Chr18:55279629 [GRCh38] Chr18:52946860 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.246C>T (p.Ser82=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001864667] |
Chr18:55461077 [GRCh38] Chr18:53128308 [GRCh37] Chr18:18q21.2 |
benign|uncertain significance |
NM_001083962.2(TCF4):c.207G>A (p.Arg69=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001983790] |
Chr18:55464076 [GRCh38] Chr18:53131307 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.412A>G (p.Thr138Ala) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001913263] |
Chr18:55350961 [GRCh38] Chr18:53018192 [GRCh37] Chr18:18q21.2 |
likely benign|uncertain significance |
GRCh37/hg19 18q21.2-23(chr18:52837852-77989426) |
copy number loss |
not specified [RCV002052642] |
Chr18:52837852..77989426 [GRCh37] Chr18:18q21.2-23 |
pathogenic |
NM_001083962.2(TCF4):c.264T>A (p.His88Gln) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001985922] |
Chr18:55461059 [GRCh38] Chr18:53128290 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1732C>T (p.Arg578Cys) |
single nucleotide variant |
Global developmental delay [RCV002463815]|Pitt-Hopkins syndrome [RCV003152773]|not provided [RCV001847470] |
Chr18:55228994 [GRCh38] Chr18:52896225 [GRCh37] Chr18:18q21.2 |
pathogenic|likely pathogenic |
NM_001083962.2(TCF4):c.476G>A (p.Arg159Lys) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001945595] |
Chr18:55350897 [GRCh38] Chr18:53018128 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.549+23042C>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001839348] |
Chr18:55327317 [GRCh38] Chr18:52994548 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1727G>T (p.Arg576Leu) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001964224] |
Chr18:55228999 [GRCh38] Chr18:52896230 [GRCh37] Chr18:18q21.2 |
likely pathogenic|uncertain significance |
NM_001083962.2(TCF4):c.1413G>C (p.Gln471His) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001889643] |
Chr18:55234621 [GRCh38] Chr18:52901852 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.421C>T (p.Pro141Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002329769]|not provided [RCV001824521] |
Chr18:55350952 [GRCh38] Chr18:53018183 [GRCh37] Chr18:18q21.2 |
uncertain significance |
GRCh37/hg19 18q21.2(chr18:53289889-53383013) |
copy number loss |
not specified [RCV002052645] |
Chr18:53289889..53383013 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.550-3C>G |
single nucleotide variant |
not provided [RCV001849170] |
Chr18:55279659 [GRCh38] Chr18:52946890 [GRCh37] Chr18:18q21.2 |
not provided |
NM_001083962.2(TCF4):c.1147-2A>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002044024] |
Chr18:55254702 [GRCh38] Chr18:52921933 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
GRCh37/hg19 18q21.2-23(chr18:53100584-78014123) |
copy number loss |
not specified [RCV002052643] |
Chr18:53100584..78014123 [GRCh37] Chr18:18q21.2-23 |
pathogenic |
NM_001083962.2(TCF4):c.701A>G (p.Asn234Ser) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001891902] |
Chr18:55275707 [GRCh38] Chr18:52942938 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.622_628dup (p.Thr210fs) |
microsatellite |
Pitt-Hopkins syndrome [RCV001928681] |
Chr18:55279577..55279578 [GRCh38] Chr18:52946808..52946809 [GRCh37] Chr18:18q21.2 |
pathogenic |
GRCh37/hg19 18q21.2-22.1(chr18:50739715-63705988) |
copy number loss |
not specified [RCV002052639] |
Chr18:50739715..63705988 [GRCh37] Chr18:18q21.2-22.1 |
pathogenic |
GRCh37/hg19 18q21.2(chr18:53277008-53428347) |
copy number loss |
not specified [RCV002052644] |
Chr18:53277008..53428347 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.1291G>T (p.Gly431Cys) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002042153] |
Chr18:55254556 [GRCh38] Chr18:52921787 [GRCh37] Chr18:18q21.2 |
uncertain significance |
GRCh37/hg19 18q21.2-21.31(chr18:50707829-54924248) |
copy number loss |
not specified [RCV002052638] |
Chr18:50707829..54924248 [GRCh37] Chr18:18q21.2-21.31 |
pathogenic |
GRCh37/hg19 18q21.2-23(chr18:52675201-78014123) |
copy number loss |
not specified [RCV002052641] |
Chr18:52675201..78014123 [GRCh37] Chr18:18q21.2-23 |
pathogenic |
NM_001083962.2(TCF4):c.1294G>C (p.Gly432Arg) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001983310] |
Chr18:55254553 [GRCh38] Chr18:52921784 [GRCh37] Chr18:18q21.2 |
uncertain significance |
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123) |
copy number gain |
not specified [RCV002052616] |
Chr18:136226..78014123 [GRCh37] Chr18:18p11.32-q23 |
pathogenic |
GRCh37/hg19 18q21.1-23(chr18:47656799-78014123) |
copy number loss |
not specified [RCV002052636] |
Chr18:47656799..78014123 [GRCh37] Chr18:18q21.1-23 |
pathogenic |
NM_001083962.2(TCF4):c.1249del (p.Asp417fs) |
deletion |
Pitt-Hopkins syndrome [RCV001824476] |
Chr18:55254598 [GRCh38] Chr18:52921829 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.955C>A (p.Gln319Lys) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001943064] |
Chr18:55261501 [GRCh38] Chr18:52928732 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.178G>A (p.Gly60Arg) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002000804] |
Chr18:55464105 [GRCh38] Chr18:53131336 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.622A>G (p.Thr208Ala) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002048355] |
Chr18:55279584 [GRCh38] Chr18:52946815 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1057C>T (p.Pro353Ser) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002031325] |
Chr18:55259961 [GRCh38] Chr18:52927192 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.691A>G (p.Ser231Gly) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001906055] |
Chr18:55275717 [GRCh38] Chr18:52942948 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1237G>C (p.Gly413Arg) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001888744] |
Chr18:55254610 [GRCh38] Chr18:52921841 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NC_000018.9:g.(?_53070665)_(53070769_?)del |
deletion |
Pitt-Hopkins syndrome [RCV001963208] |
Chr18:53070665..53070769 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.937G>A (p.Gly313Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004970561]|Pitt-Hopkins syndrome [RCV001938738] |
Chr18:55261519 [GRCh38] Chr18:52928750 [GRCh37] Chr18:18q21.2 |
likely benign|uncertain significance |
NM_001083962.2(TCF4):c.145+3A>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001932306]|not provided [RCV005412291] |
Chr18:55585277 [GRCh38] Chr18:53252508 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NC_000018.9:g.(?_52921708)_(53070769_?)del |
deletion |
Pitt-Hopkins syndrome [RCV001956426] |
Chr18:52921708..53070769 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.698T>C (p.Met233Thr) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001898150] |
Chr18:55275710 [GRCh38] Chr18:52942941 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.790-1G>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002048467] |
Chr18:55269964 [GRCh38] Chr18:52937195 [GRCh37] Chr18:18q21.2 |
pathogenic|likely pathogenic |
NM_001083962.2(TCF4):c.1468C>T (p.Pro490Ser) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001918533] |
Chr18:55234566 [GRCh38] Chr18:52901797 [GRCh37] Chr18:18q21.2 |
likely benign|uncertain significance |
NM_001083962.2(TCF4):c.1157T>C (p.Ile386Thr) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001900101] |
Chr18:55254690 [GRCh38] Chr18:52921921 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1495C>T (p.Pro499Ser) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001867156] |
Chr18:55232663 [GRCh38] Chr18:52899894 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1879G>C (p.Glu627Gln) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001881381] |
Chr18:55228847 [GRCh38] Chr18:52896078 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1135_1138dup (p.His380fs) |
duplication |
Pitt-Hopkins syndrome [RCV001876527] |
Chr18:55257322..55257323 [GRCh38] Chr18:52924553..52924554 [GRCh37] Chr18:18q21.2 |
pathogenic |
NC_000018.9:g.(?_52895456)_(53254347_?)dup |
duplication |
Pitt-Hopkins syndrome [RCV001880770] |
Chr18:52895456..53254347 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1418C>T (p.Pro473Leu) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001906077] |
Chr18:55234616 [GRCh38] Chr18:52901847 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.887del (p.Cys296fs) |
deletion |
Pitt-Hopkins syndrome [RCV001939393] |
Chr18:55269866 [GRCh38] Chr18:52937097 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.9C>G (p.His3Gln) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001932097] |
Chr18:55587108 [GRCh38] Chr18:53254339 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.865A>G (p.Asn289Asp) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002046624] |
Chr18:55269888 [GRCh38] Chr18:52937119 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.188del (p.Gly63fs) |
deletion |
Pitt-Hopkins syndrome [RCV001923293] |
Chr18:55464095 [GRCh38] Chr18:53131326 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1109C>T (p.Ser370Leu) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002046689] |
Chr18:55257352 [GRCh38] Chr18:52924583 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.487A>G (p.Ser163Gly) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001974550] |
Chr18:55350886 [GRCh38] Chr18:53018117 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.712T>C (p.Tyr238His) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001997196] |
Chr18:55275696 [GRCh38] Chr18:52942927 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1487G>C (p.Gly496Ala) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001981068] |
Chr18:55232671 [GRCh38] Chr18:52899902 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1432C>G (p.Pro478Ala) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV001976679] |
Chr18:55234602 [GRCh38] Chr18:52901833 [GRCh37] Chr18:18q21.2 |
likely benign|uncertain significance |
NM_001083962.2(TCF4):c.1180G>C (p.Asp394His) |
single nucleotide variant |
Inborn genetic diseases [RCV002552165]|Pitt-Hopkins syndrome [RCV001879566] |
Chr18:55254667 [GRCh38] Chr18:52921898 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.670del (p.Ser224fs) |
deletion |
Pitt-Hopkins syndrome [RCV001993279] |
Chr18:55275738 [GRCh38] Chr18:52942969 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1231A>G (p.Met411Val) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002091911] |
Chr18:55254616 [GRCh38] Chr18:52921847 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.1110A>G (p.Ser370=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002205640] |
Chr18:55257351 [GRCh38] Chr18:52924582 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.690C>T (p.Ser230=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002166153] |
Chr18:55275718 [GRCh38] Chr18:52942949 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.208-16G>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002104303] |
Chr18:55461131 [GRCh38] Chr18:53128362 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1880-17G>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002125486] |
Chr18:55228378 [GRCh38] Chr18:52895609 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.549+18C>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002165160] |
Chr18:55350341 [GRCh38] Chr18:53017572 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1731G>A (p.Glu577=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002072606] |
Chr18:55228995 [GRCh38] Chr18:52896226 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.790-17del |
deletion |
Pitt-Hopkins syndrome [RCV002125098] |
Chr18:55269980 [GRCh38] Chr18:52937211 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.1248G>A (p.Gly416=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002164885] |
Chr18:55254599 [GRCh38] Chr18:52921830 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.73-21_73-19del |
deletion |
Pitt-Hopkins syndrome [RCV002169450] |
Chr18:55585371..55585373 [GRCh38] Chr18:53252602..53252604 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1107C>G (p.Ala369=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002166380] |
Chr18:55257354 [GRCh38] Chr18:52924585 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1070-5A>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002084743] |
Chr18:55257396 [GRCh38] Chr18:52924627 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.923-11T>C |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002207538] |
Chr18:55261544 [GRCh38] Chr18:52928775 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1485_1486dup (p.Gly496fs) |
microsatellite |
Pitt-Hopkins syndrome [RCV002226957] |
Chr18:55234547..55234548 [GRCh38] Chr18:52901778..52901779 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.369+11A>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002126150] |
Chr18:55403443 [GRCh38] Chr18:53070674 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.73-12T>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002210060] |
Chr18:55585364 [GRCh38] Chr18:53252595 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.656-5T>C |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002106118] |
Chr18:55275757 [GRCh38] Chr18:52942988 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1023T>C (p.Phe341=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002214767] |
Chr18:55259995 [GRCh38] Chr18:52927226 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.5A>T (p.His2Leu) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002133825] |
Chr18:55587112 [GRCh38] Chr18:53254343 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1412A>G (p.Gln471Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003250454]|Pitt-Hopkins syndrome [RCV002215964] |
Chr18:55234622 [GRCh38] Chr18:52901853 [GRCh37] Chr18:18q21.2 |
likely benign|uncertain significance |
NM_001083962.2(TCF4):c.1486+15C>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002151310] |
Chr18:55234533 [GRCh38] Chr18:52901764 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.499+16G>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002189948] |
Chr18:55350858 [GRCh38] Chr18:53018089 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1486+19G>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002213184] |
Chr18:55234529 [GRCh38] Chr18:52901760 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.990+10T>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002171304] |
Chr18:55261456 [GRCh38] Chr18:52928687 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.783A>G (p.Glu261=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002132907]|not specified [RCV005058077] |
Chr18:55275625 [GRCh38] Chr18:52942856 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.655+11G>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002205723] |
Chr18:55279540 [GRCh38] Chr18:52946771 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.837G>A (p.Pro279=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002087454] |
Chr18:55269916 [GRCh38] Chr18:52937147 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.304+13T>C |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002080585] |
Chr18:55461006 [GRCh38] Chr18:53128237 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1161A>G (p.Glu387=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002194695] |
Chr18:55254686 [GRCh38] Chr18:52921917 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1608C>T (p.Asp536=) |
single nucleotide variant |
Inborn genetic diseases [RCV002391233]|Pitt-Hopkins syndrome [RCV002096075]|not provided [RCV003418376] |
Chr18:55232550 [GRCh38] Chr18:52899781 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.549+28099AG[2] |
microsatellite |
not provided [RCV002214076] |
Chr18:55322255..55322256 [GRCh38] Chr18:52989486..52989487 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.1969C>G (p.Pro657Ala) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002124646] |
Chr18:55228272 [GRCh38] Chr18:52895503 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.432T>G (p.Pro144=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002149561] |
Chr18:55350941 [GRCh38] Chr18:53018172 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.789+8A>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002076629] |
Chr18:55275611 [GRCh38] Chr18:52942842 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.146-20A>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002172650] |
Chr18:55464157 [GRCh38] Chr18:53131388 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.900C>A (p.Ala300=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002213570] |
Chr18:55269853 [GRCh38] Chr18:52937084 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.146-13C>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002099577] |
Chr18:55464150 [GRCh38] Chr18:53131381 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001243226.3(TCF4):c.237G>A (p.Trp79Ter) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002243597] |
Chr18:55631347 [GRCh38] Chr18:53298578 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1059A>T (p.Pro353=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002082106] |
Chr18:55259959 [GRCh38] Chr18:52927190 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1880-9C>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002154037] |
Chr18:55228370 [GRCh38] Chr18:52895601 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1699_1701del (p.Lys567del) |
deletion |
Pitt-Hopkins syndrome [RCV002246764] |
Chr18:55229025..55229027 [GRCh38] Chr18:52896256..52896258 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.922+15del |
deletion |
Pitt-Hopkins syndrome [RCV002183902] |
Chr18:55269816 [GRCh38] Chr18:52937047 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001243226.3(TCF4):c.165C>T (p.Cys55=) |
single nucleotide variant |
See cases [RCV002252422] |
Chr18:55635733 [GRCh38] Chr18:53302964 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1419G>A (p.Pro473=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002182975] |
Chr18:55234615 [GRCh38] Chr18:52901846 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.991-18dup |
duplication |
Pitt-Hopkins syndrome [RCV002138292] |
Chr18:55260044..55260045 [GRCh38] Chr18:52927275..52927276 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.73-11G>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002156937] |
Chr18:55585363 [GRCh38] Chr18:53252594 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1069+19C>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002143383] |
Chr18:55259930 [GRCh38] Chr18:52927161 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.990+19T>C |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002099061] |
Chr18:55261447 [GRCh38] Chr18:52928678 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1487-6C>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002155496] |
Chr18:55232677 [GRCh38] Chr18:52899908 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1725C>T (p.Ala575=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002158037] |
Chr18:55229001 [GRCh38] Chr18:52896232 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.186A>T (p.Gly62=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002156517] |
Chr18:55464097 [GRCh38] Chr18:53131328 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.789+17C>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002122037] |
Chr18:55275602 [GRCh38] Chr18:52942833 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1524T>C (p.Ser508=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002138171] |
Chr18:55232634 [GRCh38] Chr18:52899865 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1880-13T>C |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002118662] |
Chr18:55228374 [GRCh38] Chr18:52895605 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1487-14C>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002202815] |
Chr18:55232685 [GRCh38] Chr18:52899916 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1649+11A>G |
single nucleotide variant |
not specified [RCV004783492] |
Chr18:55232498 [GRCh38] Chr18:52899729 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1565dup (p.Asn522fs) |
duplication |
not provided [RCV004787522] |
Chr18:55232592..55232593 [GRCh38] Chr18:52899823..52899824 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1370A>G (p.Asp457Gly) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003115831]|not provided [RCV003318750] |
Chr18:55234664 [GRCh38] Chr18:52901895 [GRCh37] Chr18:18q21.2 |
likely benign|uncertain significance |
NC_000018.9:g.(?_52927160)_(53254347_?)del |
deletion |
Pitt-Hopkins syndrome [RCV003122505] |
Chr18:52927160..53254347 [GRCh37] Chr18:18q21.2 |
pathogenic |
NC_000018.9:g.(?_53017570)_(53254347_?)del |
deletion |
Pitt-Hopkins syndrome [RCV003122506] |
Chr18:53017570..53254347 [GRCh37] Chr18:18q21.2 |
pathogenic |
NC_000018.9:g.(?_53128230)_(53131388_?)del |
deletion |
Pitt-Hopkins syndrome [RCV003122507] |
Chr18:53128230..53131388 [GRCh37] Chr18:18q21.2 |
pathogenic |
NC_000018.9:g.(?_53017570)_(53070769_?)del |
deletion |
Pitt-Hopkins syndrome [RCV003122508] |
Chr18:53017570..53070769 [GRCh37] Chr18:18q21.2 |
pathogenic |
NC_000018.9:g.(?_52895456)_(53254347_?)del |
deletion |
Pitt-Hopkins syndrome [RCV003122509] |
Chr18:52895456..53254347 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1144_1145del (p.Leu382fs) |
deletion |
not provided [RCV003123198] |
Chr18:55257316..55257317 [GRCh38] Chr18:52924547..52924548 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1848C>A (p.Ala616=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003121607] |
Chr18:55228878 [GRCh38] Chr18:52896109 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.291T>C (p.Asn97=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003121684] |
Chr18:55461032 [GRCh38] Chr18:53128263 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1417_1418delinsT (p.Pro473fs) |
indel |
Pitt-Hopkins syndrome [RCV004797289] |
Chr18:55234616..55234617 [GRCh38] Chr18:52901847..52901848 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.1838A>G (p.Gln613Arg) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV004776533] |
Chr18:55228888 [GRCh38] Chr18:52896119 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1420del (p.Val474fs) |
deletion |
Pitt-Hopkins syndrome [RCV004784995] |
Chr18:55234614 [GRCh38] Chr18:52901845 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.1424dup (p.Gln476fs) |
duplication |
Pitt-Hopkins syndrome [RCV004789872] |
Chr18:55234609..55234610 [GRCh38] Chr18:52901840..52901841 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1879+1G>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002273054] |
Chr18:55228846 [GRCh38] Chr18:52896077 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.327C>A (p.Tyr109Ter) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002246767] |
Chr18:55403496 [GRCh38] Chr18:53070727 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.35C>T (p.Thr12Met) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV005095981]|Seizure [RCV002273870] |
Chr18:55587082 [GRCh38] Chr18:53254313 [GRCh37] Chr18:18q21.2 |
likely benign|uncertain significance |
NM_001083962.2(TCF4):c.1486G>A (p.Gly496Ser) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002246765] |
Chr18:55234548 [GRCh38] Chr18:52901779 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.593C>T (p.Ser198Leu) |
single nucleotide variant |
not provided [RCV002254078] |
Chr18:55279613 [GRCh38] Chr18:52946844 [GRCh37] Chr18:18q21.2 |
uncertain significance |
GRCh37/hg19 18p11.32-q23(chr18:1-78077248) |
copy number gain |
Trisomy 18 [RCV002280660] |
Chr18:1..78077248 [GRCh37] Chr18:18p11.32-q23 |
pathogenic |
NM_001083962.2(TCF4):c.990+3G>T |
single nucleotide variant |
not provided [RCV003129216] |
Chr18:55261463 [GRCh38] Chr18:52928694 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1145T>C (p.Leu382Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004673868]|not provided [RCV003233126] |
Chr18:55257316 [GRCh38] Chr18:52924547 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1069+30A>G |
single nucleotide variant |
not provided [RCV002263124] |
Chr18:55259919 [GRCh38] Chr18:52927150 [GRCh37] Chr18:18q21.2 |
benign|likely benign |
NM_001083962.2(TCF4):c.1866G>C (p.Glu622Asp) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002273291] |
Chr18:55228860 [GRCh38] Chr18:52896091 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.1307G>C (p.Gly436Ala) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV005096011]|not provided [RCV002279034] |
Chr18:55254540 [GRCh38] Chr18:52921771 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1069+1052G>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002285253] |
Chr18:55258897 [GRCh38] Chr18:52926128 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1351-1G>C |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002288341] |
Chr18:55234684 [GRCh38] Chr18:52901915 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001243226.3(TCF4):c.286+1G>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002284996] |
Chr18:55631297 [GRCh38] Chr18:53298528 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.923-11del |
deletion |
not provided [RCV002285799] |
Chr18:55261544 [GRCh38] Chr18:52928775 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.549A>T (p.Ser183=) |
single nucleotide variant |
not provided [RCV002274688] |
Chr18:55350359 [GRCh38] Chr18:53017590 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1112C>T (p.Ser371Leu) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002471939] |
Chr18:55257349 [GRCh38] Chr18:52924580 [GRCh37] Chr18:18q21.2 |
uncertain significance |
GRCh37/hg19 18q21.2(chr18:51223984-53001044)x3 |
copy number gain |
not provided [RCV002472441] |
Chr18:51223984..53001044 [GRCh37] Chr18:18q21.2 |
uncertain significance |
GRCh37/hg19 18q21.2(chr18:52023322-53332606)x1 |
copy number loss |
Pitt-Hopkins syndrome [RCV002472353] |
Chr18:52023322..53332606 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.107G>C (p.Gly36Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002417483] |
Chr18:55585318 [GRCh38] Chr18:53252549 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1069+1G>C |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002465448] |
Chr18:55259948 [GRCh38] Chr18:52927179 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.387T>C (p.Gly129=) |
single nucleotide variant |
Inborn genetic diseases [RCV002357352]|TCF4-related disorder [RCV003926371] |
Chr18:55350986 [GRCh38] Chr18:53018217 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.82C>T (p.Pro28Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002430332] |
Chr18:55585343 [GRCh38] Chr18:53252574 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1474G>C (p.Asp492His) |
single nucleotide variant |
not provided [RCV003231671] |
Chr18:55234560 [GRCh38] Chr18:52901791 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.466C>T (p.Pro156Ser) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002296044] |
Chr18:55350907 [GRCh38] Chr18:53018138 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1056T>C (p.Pro352=) |
single nucleotide variant |
Inborn genetic diseases [RCV002399040] |
Chr18:55259962 [GRCh38] Chr18:52927193 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.692G>A (p.Ser231Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002378126] |
Chr18:55275716 [GRCh38] Chr18:52942947 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.242C>G (p.Thr81Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002450449]|Pitt-Hopkins syndrome [RCV003098870] |
Chr18:55461081 [GRCh38] Chr18:53128312 [GRCh37] Chr18:18q21.2 |
likely benign|uncertain significance |
NM_001083962.2(TCF4):c.1399_1403del (p.Leu467fs) |
deletion |
Inborn genetic diseases [RCV002389166] |
Chr18:55234631..55234635 [GRCh38] Chr18:52901862..52901866 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.496A>G (p.Met166Val) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002301752] |
Chr18:55350877 [GRCh38] Chr18:53018108 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.991-1G>A |
single nucleotide variant |
Inborn genetic diseases [RCV002382813] |
Chr18:55260028 [GRCh38] Chr18:52927259 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.146-6C>T |
single nucleotide variant |
not provided [RCV002305959] |
Chr18:55464143 [GRCh38] Chr18:53131374 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.450G>A (p.Gln150=) |
single nucleotide variant |
Inborn genetic diseases [RCV002339898] |
Chr18:55350923 [GRCh38] Chr18:53018154 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.569G>A (p.Ser190Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002347534] |
Chr18:55279637 [GRCh38] Chr18:52946868 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1070-2A>G |
single nucleotide variant |
Inborn genetic diseases [RCV002413282] |
Chr18:55257393 [GRCh38] Chr18:52924624 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1518CTC[1] (p.Ser508del) |
microsatellite |
Inborn genetic diseases [RCV002392426] |
Chr18:55232635..55232637 [GRCh38] Chr18:52899866..52899868 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1303T>A (p.Ser435Thr) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002302359] |
Chr18:55254544 [GRCh38] Chr18:52921775 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.710G>A (p.Gly237Asp) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002302382] |
Chr18:55275698 [GRCh38] Chr18:52942929 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1142_1143del (p.Ser381fs) |
microsatellite |
Inborn genetic diseases [RCV002460210] |
Chr18:55257318..55257319 [GRCh38] Chr18:52924549..52924550 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1166G>T (p.Arg389Leu) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002302436] |
Chr18:55254681 [GRCh38] Chr18:52921912 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.972G>A (p.Leu324=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002863332] |
Chr18:55261484 [GRCh38] Chr18:52928715 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.939_947del (p.Ala314_Gly316del) |
deletion |
Pitt-Hopkins syndrome [RCV002881513] |
Chr18:55261509..55261517 [GRCh38] Chr18:52928740..52928748 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.305-4G>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002994369] |
Chr18:55403522 [GRCh38] Chr18:53070753 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.509C>T (p.Thr170Ile) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002730393] |
Chr18:55350399 [GRCh38] Chr18:53017630 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1842G>C (p.Ala614=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003076554] |
Chr18:55228884 [GRCh38] Chr18:52896115 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1944G>A (p.Glu648=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002734887] |
Chr18:55228297 [GRCh38] Chr18:52895528 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.310A>G (p.Thr104Ala) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002819931] |
Chr18:55403513 [GRCh38] Chr18:53070744 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.550-15G>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003073704] |
Chr18:55279671 [GRCh38] Chr18:52946902 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1351-10G>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002903056] |
Chr18:55234693 [GRCh38] Chr18:52901924 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1942G>C (p.Glu648Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002841298] |
Chr18:55228299 [GRCh38] Chr18:52895530 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1374C>T (p.Gly458=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002613671] |
Chr18:55234660 [GRCh38] Chr18:52901891 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.471A>G (p.Arg157=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003032771] |
Chr18:55350902 [GRCh38] Chr18:53018133 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1879+10G>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002686383] |
Chr18:55228837 [GRCh38] Chr18:52896068 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.979G>C (p.Ala327Pro) |
single nucleotide variant |
not provided [RCV002511399] |
Chr18:55261477 [GRCh38] Chr18:52928708 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.2003T>G (p.Met668Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002687823] |
Chr18:55228238 [GRCh38] Chr18:52895469 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.189A>G (p.Gly63=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003013928] |
Chr18:55464094 [GRCh38] Chr18:53131325 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1007A>G (p.His336Arg) |
single nucleotide variant |
not provided [RCV002462418] |
Chr18:55260011 [GRCh38] Chr18:52927242 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1105G>A (p.Ala369Thr) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002463402] |
Chr18:55257356 [GRCh38] Chr18:52924587 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1952dup (p.Leu652fs) |
duplication |
Pitt-Hopkins syndrome [RCV002842393] |
Chr18:55228288..55228289 [GRCh38] Chr18:52895519..52895520 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.550-22814A>G |
single nucleotide variant |
TCF4-related disorder [RCV004741298]|not provided [RCV002511897] |
Chr18:55302470 [GRCh38] Chr18:52969701 [GRCh37] Chr18:18q21.2 |
benign|likely benign |
NM_001083962.2(TCF4):c.1650-10T>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002927799] |
Chr18:55229086 [GRCh38] Chr18:52896317 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.196A>G (p.Ser66Gly) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002694972] |
Chr18:55464087 [GRCh38] Chr18:53131318 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1665G>C (p.Glu555Asp) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002740323] |
Chr18:55229061 [GRCh38] Chr18:52896292 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.369+4A>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002824378] |
Chr18:55403450 [GRCh38] Chr18:53070681 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.789+15C>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002889842] |
Chr18:55275604 [GRCh38] Chr18:52942835 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.604C>A (p.Pro202Thr) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002923776] |
Chr18:55279602 [GRCh38] Chr18:52946833 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.781G>C (p.Glu261Gln) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003055628] |
Chr18:55275627 [GRCh38] Chr18:52942858 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1460T>C (p.Leu487Pro) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003002835] |
Chr18:55234574 [GRCh38] Chr18:52901805 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.798A>G (p.Pro266=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002923372] |
Chr18:55269955 [GRCh38] Chr18:52937186 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.790A>T (p.Ser264Cys) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002825538] |
Chr18:55269963 [GRCh38] Chr18:52937194 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1740G>C (p.Arg580=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002923070] |
Chr18:55228986 [GRCh38] Chr18:52896217 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1674A>C (p.Thr558=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002659460] |
Chr18:55229052 [GRCh38] Chr18:52896283 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.878C>A (p.Thr293Asn) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003054082] |
Chr18:55269875 [GRCh38] Chr18:52937106 [GRCh37] Chr18:18q21.2 |
benign|uncertain significance |
NM_001083962.2(TCF4):c.1578G>C (p.Thr526=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003053722] |
Chr18:55232580 [GRCh38] Chr18:52899811 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1069+20A>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002976586] |
Chr18:55259929 [GRCh38] Chr18:52927160 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.2004G>A (p.Met668Ile) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003054661] |
Chr18:55228237 [GRCh38] Chr18:52895468 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.604C>T (p.Pro202Ser) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003035474] |
Chr18:55279602 [GRCh38] Chr18:52946833 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.129A>T (p.Gly43=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002619527] |
Chr18:55585296 [GRCh38] Chr18:53252527 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1062T>C (p.Ser354=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002695331]|not specified [RCV003403890] |
Chr18:55259956 [GRCh38] Chr18:52927187 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.81A>C (p.Ser27=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002867728] |
Chr18:55585344 [GRCh38] Chr18:53252575 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1842G>A (p.Ala614=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003078265] |
Chr18:55228884 [GRCh38] Chr18:52896115 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.666C>T (p.His222=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002948525] |
Chr18:55275742 [GRCh38] Chr18:52942973 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.329C>T (p.Ser110Leu) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002886710] |
Chr18:55403494 [GRCh38] Chr18:53070725 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.776C>T (p.Pro259Leu) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003018960] |
Chr18:55275632 [GRCh38] Chr18:52942863 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.555T>A (p.Tyr185Ter) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002820850] |
Chr18:55279651 [GRCh38] Chr18:52946882 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1147-3C>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002706126] |
Chr18:55254703 [GRCh38] Chr18:52921934 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.207+8T>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002735734] |
Chr18:55464068 [GRCh38] Chr18:53131299 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1880-6C>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002948484] |
Chr18:55228367 [GRCh38] Chr18:52895598 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.649A>G (p.Met217Val) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003053525] |
Chr18:55279557 [GRCh38] Chr18:52946788 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1170A>G (p.Leu390=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002790968] |
Chr18:55254677 [GRCh38] Chr18:52921908 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.634C>T (p.Pro212Ser) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002828533] |
Chr18:55279572 [GRCh38] Chr18:52946803 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.840_841insGAGAAAG (p.Ser281fs) |
insertion |
Pitt-Hopkins syndrome [RCV002790025] |
Chr18:55269912..55269913 [GRCh38] Chr18:52937143..52937144 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1330G>C (p.Ala444Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV005288806]|Pitt-Hopkins syndrome [RCV002741559] |
Chr18:55254517 [GRCh38] Chr18:52921748 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1288A>G (p.Met430Val) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002985529] |
Chr18:55254559 [GRCh38] Chr18:52921790 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.879del (p.Ser294fs) |
deletion |
Pitt-Hopkins syndrome [RCV002508173] |
Chr18:55269874 [GRCh38] Chr18:52937105 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.991-18del |
deletion |
Pitt-Hopkins syndrome [RCV002624931] |
Chr18:55260045 [GRCh38] Chr18:52927276 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.1486+14A>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003005374] |
Chr18:55234534 [GRCh38] Chr18:52901765 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.72+17G>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003041033] |
Chr18:55587028 [GRCh38] Chr18:53254259 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1503A>G (p.Leu501=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003024425]|not provided [RCV003456541] |
Chr18:55232655 [GRCh38] Chr18:52899886 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1802G>T (p.Ser601Ile) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003005151] |
Chr18:55228924 [GRCh38] Chr18:52896155 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1107C>T (p.Ala369=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003023376] |
Chr18:55257354 [GRCh38] Chr18:52924585 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.93C>T (p.Ser31=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003040836] |
Chr18:55585332 [GRCh38] Chr18:53252563 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1099G>A (p.Gly367Arg) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003024873] |
Chr18:55257362 [GRCh38] Chr18:52924593 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1133C>G (p.Pro378Arg) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002745248] |
Chr18:55257328 [GRCh38] Chr18:52924559 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.305-3C>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002875665] |
Chr18:55403521 [GRCh38] Chr18:53070752 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.370-18C>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003009281] |
Chr18:55351021 [GRCh38] Chr18:53018252 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.550-20dup |
duplication |
Pitt-Hopkins syndrome [RCV003044534] |
Chr18:55279675..55279676 [GRCh38] Chr18:52946906..52946907 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.84T>G (p.Pro28=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002646633] |
Chr18:55585341 [GRCh38] Chr18:53252572 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.715G>A (p.Ala239Thr) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003091829] |
Chr18:55275693 [GRCh38] Chr18:52942924 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.854G>A (p.Arg285His) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003049275] |
Chr18:55269899 [GRCh38] Chr18:52937130 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.913A>G (p.Ser305Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002719286]|Pitt-Hopkins syndrome [RCV005099607] |
Chr18:55269840 [GRCh38] Chr18:52937071 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.624C>T (p.Thr208=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002651195] |
Chr18:55279582 [GRCh38] Chr18:52946813 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1867C>T (p.Gln623Ter) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003064520] |
Chr18:55228859 [GRCh38] Chr18:52896090 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.585T>C (p.Asn195=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002714847] |
Chr18:55279621 [GRCh38] Chr18:52946852 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.327C>T (p.Tyr109=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002791969] |
Chr18:55403496 [GRCh38] Chr18:53070727 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1628C>T (p.Ser543Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002808945] |
Chr18:55232530 [GRCh38] Chr18:52899761 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1660G>A (p.Asp554Asn) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003028851] |
Chr18:55229066 [GRCh38] Chr18:52896297 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.550-20_550-17del |
deletion |
Pitt-Hopkins syndrome [RCV003088180] |
Chr18:55279673..55279676 [GRCh38] Chr18:52946904..52946907 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.923-1G>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002899371] |
Chr18:55261534 [GRCh38] Chr18:52928765 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.922+20A>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002629052] |
Chr18:55269811 [GRCh38] Chr18:52937042 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.414C>A (p.Thr138=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003030929] |
Chr18:55350959 [GRCh38] Chr18:53018190 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.146-11C>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002966472] |
Chr18:55464148 [GRCh38] Chr18:53131379 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.478C>G (p.Pro160Ala) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003091177] |
Chr18:55350895 [GRCh38] Chr18:53018126 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1976C>T (p.Pro659Leu) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002811049] |
Chr18:55228265 [GRCh38] Chr18:52895496 [GRCh37] Chr18:18q21.2 |
likely benign|uncertain significance |
NM_001083962.2(TCF4):c.991-11A>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002601406] |
Chr18:55260038 [GRCh38] Chr18:52927269 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.370-17C>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003064947] |
Chr18:55351020 [GRCh38] Chr18:53018251 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.110C>T (p.Pro37Leu) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002716844] |
Chr18:55585315 [GRCh38] Chr18:53252546 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.215G>C (p.Gly72Ala) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002645870] |
Chr18:55461108 [GRCh38] Chr18:53128339 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.543A>C (p.Pro181=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002899548] |
Chr18:55350365 [GRCh38] Chr18:53017596 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.320G>C (p.Gly107Ala) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003046915] |
Chr18:55403503 [GRCh38] Chr18:53070734 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.452A>C (p.Tyr151Ser) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003047017] |
Chr18:55350921 [GRCh38] Chr18:53018152 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1144_1145insC (p.Leu382fs) |
insertion |
Pitt-Hopkins syndrome [RCV002810047] |
Chr18:55257316..55257317 [GRCh38] Chr18:52924547..52924548 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.550-6C>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002597403] |
Chr18:55279662 [GRCh38] Chr18:52946893 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1734T>C (p.Arg578=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002806504] |
Chr18:55228992 [GRCh38] Chr18:52896223 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.684C>T (p.Ser228=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003032186] |
Chr18:55275724 [GRCh38] Chr18:52942955 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1487-14C>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003066310] |
Chr18:55232685 [GRCh38] Chr18:52899916 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.500-13C>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003067976] |
Chr18:55350421 [GRCh38] Chr18:53017652 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.369+17G>C |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003052271] |
Chr18:55403437 [GRCh38] Chr18:53070668 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1263C>T (p.Ile421=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002606704] |
Chr18:55254584 [GRCh38] Chr18:52921815 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1896G>C (p.Pro632=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003071950] |
Chr18:55228345 [GRCh38] Chr18:52895576 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.146-13C>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV002603133] |
Chr18:55464150 [GRCh38] Chr18:53131381 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1739G>T (p.Arg580Leu) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV004796418] |
Chr18:55228987 [GRCh38] Chr18:52896218 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.119T>C (p.Leu40Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003209200] |
Chr18:55585306 [GRCh38] Chr18:53252537 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.784_785insCA (p.Arg262fs) |
insertion |
Pitt-Hopkins syndrome [RCV003223537] |
Chr18:55275623..55275624 [GRCh38] Chr18:52942854..52942855 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.898del (p.Ala300fs) |
deletion |
not provided [RCV003131709] |
Chr18:55269855 [GRCh38] Chr18:52937086 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.959C>T (p.Thr320Ile) |
single nucleotide variant |
not provided [RCV003140942] |
Chr18:55261497 [GRCh38] Chr18:52928728 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1207_1208delinsAT (p.His403Ile) |
indel |
not provided [RCV003140943] |
Chr18:55254639..55254640 [GRCh38] Chr18:52921870..52921871 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1061C>G (p.Ser354Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV003186583] |
Chr18:55259957 [GRCh38] Chr18:52927188 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.345A>T (p.Glu115Asp) |
single nucleotide variant |
not provided [RCV003229347] |
Chr18:55403478 [GRCh38] Chr18:53070709 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1789C>G (p.Leu597Val) |
single nucleotide variant |
not provided [RCV003227315] |
Chr18:55228937 [GRCh38] Chr18:52896168 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.497T>C (p.Met166Thr) |
single nucleotide variant |
not provided [RCV003227392] |
Chr18:55350876 [GRCh38] Chr18:53018107 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.443A>T (p.Tyr148Phe) |
single nucleotide variant |
not provided [RCV003321262] |
Chr18:55350930 [GRCh38] Chr18:53018161 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1608C>G (p.Asp536Glu) |
single nucleotide variant |
not provided [RCV003319868] |
Chr18:55232550 [GRCh38] Chr18:52899781 [GRCh37] Chr18:18q21.2 |
likely benign|uncertain significance |
NM_001083962.2(TCF4):c.1017C>G (p.Asn339Lys) |
single nucleotide variant |
not provided [RCV005367974] |
Chr18:55260001 [GRCh38] Chr18:52927232 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.655+54C>T |
single nucleotide variant |
not provided [RCV003322141] |
Chr18:55279497 [GRCh38] Chr18:52946728 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2:c.304+24622_369+779del |
deletion |
Pitt-Hopkins syndrome [RCV003330244] |
|
pathogenic |
NM_001083962.2(TCF4):c.305-102G>A |
single nucleotide variant |
not provided [RCV003326986] |
Chr18:55403620 [GRCh38] Chr18:53070851 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.655G>C (p.Asp219His) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003334374] |
Chr18:55279551 [GRCh38] Chr18:52946782 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_003199.2(TCF4):c.-312dup |
duplication |
not provided [RCV003421649] |
Chr18:55588322..55588323 [GRCh38] Chr18:53255553..53255554 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.305-18943A>G |
single nucleotide variant |
not provided [RCV003423091] |
Chr18:55422461 [GRCh38] Chr18:53089692 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.633C>G (p.Phe211Leu) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003778317]|TCF4-related disorder [RCV003419256] |
Chr18:55279573 [GRCh38] Chr18:52946804 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.775_776dup (p.Glu261fs) |
duplication |
Corneal dystrophy, Fuchs endothelial, 3 [RCV003445349] |
Chr18:55275631..55275632 [GRCh38] Chr18:52942862..52942863 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.549+28682G>A |
single nucleotide variant |
not provided [RCV003457002] |
Chr18:55321677 [GRCh38] Chr18:52988908 [GRCh37] Chr18:18q21.2 |
uncertain significance |
GRCh37/hg19 18q21.2(chr18:51003914-53456476)x3 |
copy number gain |
not provided [RCV003485185] |
Chr18:51003914..53456476 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1763del (p.Phe588fs) |
deletion |
TCF4-related disorder [RCV003402161] |
Chr18:55228963 [GRCh38] Chr18:52896194 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.1056T>A (p.Pro352=) |
single nucleotide variant |
not provided [RCV003423090] |
Chr18:55259962 [GRCh38] Chr18:52927193 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1057C>A (p.Pro353Thr) |
single nucleotide variant |
not provided [RCV003429155] |
Chr18:55259961 [GRCh38] Chr18:52927192 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.498G>A (p.Met166Ile) |
single nucleotide variant |
not provided [RCV003443840] |
Chr18:55350875 [GRCh38] Chr18:53018106 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.415C>G (p.Leu139Val) |
single nucleotide variant |
TCF4-related disorder [RCV003391256] |
Chr18:55350958 [GRCh38] Chr18:53018189 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1238del (p.Gly413fs) |
deletion |
TCF4-related disorder [RCV003399861] |
Chr18:55254609 [GRCh38] Chr18:52921840 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001243226.3(TCF4):c.114A>G (p.Ser38=) |
single nucleotide variant |
not provided [RCV003421650] |
Chr18:55635784 [GRCh38] Chr18:53303015 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001243226.3(TCF4):c.187C>T (p.Pro63Ser) |
single nucleotide variant |
not provided [RCV003423092] |
Chr18:55635711 [GRCh38] Chr18:53302942 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1912A>G (p.Lys638Glu) |
single nucleotide variant |
not provided [RCV003443613] |
Chr18:55228329 [GRCh38] Chr18:52895560 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1487-2A>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003448634] |
Chr18:55232673 [GRCh38] Chr18:52899904 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.1525G>A (p.Gly509Ser) |
single nucleotide variant |
TCF4-related disorder [RCV003416714] |
Chr18:55232633 [GRCh38] Chr18:52899864 [GRCh37] Chr18:18q21.2 |
uncertain significance |
Single allele |
deletion |
not provided [RCV003448705] |
Chr18:53218644..54488400 [GRCh37] Chr18:18q21.2-21.31 |
pathogenic |
NM_001083962.2(TCF4):c.320G>T (p.Gly107Val) |
single nucleotide variant |
TCF4-related disorder [RCV003402340] |
Chr18:55403503 [GRCh38] Chr18:53070734 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001243226.3(TCF4):c.102A>G (p.Glu34=) |
single nucleotide variant |
not provided [RCV003423093] |
Chr18:55635796 [GRCh38] Chr18:53303027 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.304+1G>A |
single nucleotide variant |
not provided [RCV003442342] |
Chr18:55461018 [GRCh38] Chr18:53128249 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.*266C>G |
single nucleotide variant |
not provided [RCV003413455] |
Chr18:55227769 [GRCh38] Chr18:52895000 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.369+1365del |
deletion |
not provided [RCV003413456] |
Chr18:55402089 [GRCh38] Chr18:53069320 [GRCh37] Chr18:18q21.2 |
benign |
NM_001083962.2(TCF4):c.1476C>A (p.Asp492Glu) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003508403]|not provided [RCV004794647] |
Chr18:55234558 [GRCh38] Chr18:52901789 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1756G>A (p.Glu586Lys) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003508734] |
Chr18:55228970 [GRCh38] Chr18:52896201 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.499+18T>C |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003508843] |
Chr18:55350856 [GRCh38] Chr18:53018087 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.500-16C>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003508886] |
Chr18:55350424 [GRCh38] Chr18:53017655 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1420G>C (p.Val474Leu) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003507538] |
Chr18:55234614 [GRCh38] Chr18:52901845 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.117T>C (p.Ser39=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003507687] |
Chr18:55585308 [GRCh38] Chr18:53252539 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.802C>T (p.His268Tyr) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003507818] |
Chr18:55269951 [GRCh38] Chr18:52937182 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.975G>A (p.Gly325=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003507521] |
Chr18:55261481 [GRCh38] Chr18:52928712 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.299T>A (p.Ile100Lys) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003508414] |
Chr18:55461024 [GRCh38] Chr18:53128255 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.499+12C>G |
single nucleotide variant |
not specified [RCV003489556] |
Chr18:55350862 [GRCh38] Chr18:53018093 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1736T>C (p.Leu579Pro) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003507653] |
Chr18:55228990 [GRCh38] Chr18:52896221 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.922+12A>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003507597] |
Chr18:55269819 [GRCh38] Chr18:52937050 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1785G>A (p.Val595=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003876306] |
Chr18:55228941 [GRCh38] Chr18:52896172 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.550-20A>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003507881] |
Chr18:55279676 [GRCh38] Chr18:52946907 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.789+9G>C |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003508233] |
Chr18:55275610 [GRCh38] Chr18:52942841 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.306_307del (p.Ser102fs) |
deletion |
Pitt-Hopkins syndrome [RCV003883361] |
Chr18:55403516..55403517 [GRCh38] Chr18:53070747..53070748 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.552C>G (p.Val184=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003506920] |
Chr18:55279654 [GRCh38] Chr18:52946885 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.370-3T>C |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003508798] |
Chr18:55351006 [GRCh38] Chr18:53018237 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1351G>C (p.Val451Leu) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003507144] |
Chr18:55234683 [GRCh38] Chr18:52901914 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1138C>T (p.His380Tyr) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003508127] |
Chr18:55257323 [GRCh38] Chr18:52924554 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.73-16T>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003508162] |
Chr18:55585368 [GRCh38] Chr18:53252599 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.723G>A (p.Met241Ile) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003506826] |
Chr18:55275685 [GRCh38] Chr18:52942916 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.708T>C (p.Pro236=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003507533] |
Chr18:55275700 [GRCh38] Chr18:52942931 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1730A>G (p.Glu577Gly) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003507060] |
Chr18:55228996 [GRCh38] Chr18:52896227 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1422del (p.Pro475fs) |
deletion |
Pitt-Hopkins syndrome [RCV003507537] |
Chr18:55234612 [GRCh38] Chr18:52901843 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.207+16C>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003508601] |
Chr18:55464060 [GRCh38] Chr18:53131291 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.923-20T>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003508553] |
Chr18:55261553 [GRCh38] Chr18:52928784 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1417C>G (p.Pro473Ala) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003507089] |
Chr18:55234617 [GRCh38] Chr18:52901848 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1508G>T (p.Gly503Val) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003508411] |
Chr18:55232650 [GRCh38] Chr18:52899881 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1463A>G (p.Asn488Ser) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003508530] |
Chr18:55234571 [GRCh38] Chr18:52901802 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.118T>C (p.Leu40=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003508656] |
Chr18:55585307 [GRCh38] Chr18:53252538 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.72+8A>C |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003507922] |
Chr18:55587037 [GRCh38] Chr18:53254268 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.710_711insT (p.Tyr238fs) |
insertion |
Pitt-Hopkins syndrome [RCV003883370] |
Chr18:55275697..55275698 [GRCh38] Chr18:52942928..52942929 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.930A>G (p.Arg310=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003507596] |
Chr18:55261526 [GRCh38] Chr18:52928757 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1833C>G (p.Leu611=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003508226] |
Chr18:55228893 [GRCh38] Chr18:52896124 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1585del (p.Ser529fs) |
deletion |
Pitt-Hopkins syndrome [RCV003507882] |
Chr18:55232573 [GRCh38] Chr18:52899804 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1234C>T (p.Pro412Ser) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003508260] |
Chr18:55254613 [GRCh38] Chr18:52921844 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.941C>T (p.Ala314Val) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003508033] |
Chr18:55261515 [GRCh38] Chr18:52928746 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1351-10G>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003508409] |
Chr18:55234693 [GRCh38] Chr18:52901924 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.500-11T>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003506851] |
Chr18:55350419 [GRCh38] Chr18:53017650 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.991-18T>C |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003617777] |
Chr18:55260045 [GRCh38] Chr18:52927276 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1069+8A>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003618107] |
Chr18:55259941 [GRCh38] Chr18:52927172 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.2015A>G (p.Ter672=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003618202] |
Chr18:55228226 [GRCh38] Chr18:52895457 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.73-20T>C |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003618545] |
Chr18:55585372 [GRCh38] Chr18:53252603 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1363C>T (p.Arg455Cys) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003618784] |
Chr18:55234671 [GRCh38] Chr18:52901902 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.817A>G (p.Ile273Val) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003618915] |
Chr18:55269936 [GRCh38] Chr18:52937167 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.304A>T (p.Ser102Cys) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003619090] |
Chr18:55461019 [GRCh38] Chr18:53128250 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.386G>A (p.Gly129Asp) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003617408] |
Chr18:55350987 [GRCh38] Chr18:53018218 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.345A>G (p.Glu115=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003618243] |
Chr18:55403478 [GRCh38] Chr18:53070709 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1337_1340del (p.Arg446fs) |
deletion |
Pitt-Hopkins syndrome [RCV003618376] |
Chr18:55254507..55254510 [GRCh38] Chr18:52921738..52921741 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.844A>G (p.Thr282Ala) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003618914] |
Chr18:55269909 [GRCh38] Chr18:52937140 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1239_1246del (p.Gly416fs) |
deletion |
Pitt-Hopkins syndrome [RCV003618362] |
Chr18:55254601..55254608 [GRCh38] Chr18:52921832..52921839 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.208-13A>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003617599] |
Chr18:55461128 [GRCh38] Chr18:53128359 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1621A>T (p.Ile541Phe) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003618459] |
Chr18:55232537 [GRCh38] Chr18:52899768 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.414C>T (p.Thr138=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003618517] |
Chr18:55350959 [GRCh38] Chr18:53018190 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1134C>G (p.Pro378=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003617356] |
Chr18:55257327 [GRCh38] Chr18:52924558 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1879+4A>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003617724] |
Chr18:55228843 [GRCh38] Chr18:52896074 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.259T>C (p.Ser87Pro) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003618586] |
Chr18:55461064 [GRCh38] Chr18:53128295 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.180G>A (p.Gly60=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003617775] |
Chr18:55464103 [GRCh38] Chr18:53131334 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1951C>A (p.Pro651Thr) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003618588] |
Chr18:55228290 [GRCh38] Chr18:52895521 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1206C>T (p.Asn402=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003618125] |
Chr18:55254641 [GRCh38] Chr18:52921872 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.21G>A (p.Met7Ile) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003618163] |
Chr18:55587096 [GRCh38] Chr18:53254327 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.263A>G (p.His88Arg) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003856457] |
Chr18:55461060 [GRCh38] Chr18:53128291 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1694G>A (p.Arg565His) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003618742] |
Chr18:55229032 [GRCh38] Chr18:52896263 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1013A>G (p.Asn338Ser) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003618745]|not provided [RCV004823183] |
Chr18:55260005 [GRCh38] Chr18:52927236 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.925A>G (p.Asn309Asp) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003618460] |
Chr18:55261531 [GRCh38] Chr18:52928762 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1593C>T (p.Asp531=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003618966]|not provided [RCV004703329] |
Chr18:55232565 [GRCh38] Chr18:52899796 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.73A>T (p.Met25Leu) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003617428] |
Chr18:55585352 [GRCh38] Chr18:53252583 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1770G>T (p.Glu590Asp) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003617300] |
Chr18:55228956 [GRCh38] Chr18:52896187 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.499+5_499+6dup |
duplication |
Pitt-Hopkins syndrome [RCV003618766] |
Chr18:55350867..55350868 [GRCh38] Chr18:53018098..53018099 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.359G>A (p.Gly120Asp) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003618516] |
Chr18:55403464 [GRCh38] Chr18:53070695 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.31G>C (p.Gly11Arg) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003618539] |
Chr18:55587086 [GRCh38] Chr18:53254317 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.146-1G>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003617394] |
Chr18:55464138 [GRCh38] Chr18:53131369 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.1356G>T (p.Gly452=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003617457] |
Chr18:55234678 [GRCh38] Chr18:52901909 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1038A>T (p.Ser346=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003618849] |
Chr18:55259980 [GRCh38] Chr18:52927211 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1360C>T (p.His454Tyr) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003617638] |
Chr18:55234674 [GRCh38] Chr18:52901905 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.789G>A (p.Leu263=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003618144] |
Chr18:55275619 [GRCh38] Chr18:52942850 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.374G>A (p.Ser125Asn) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003618145] |
Chr18:55350999 [GRCh38] Chr18:53018230 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.747A>G (p.Pro249=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003617700] |
Chr18:55275661 [GRCh38] Chr18:52942892 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1524T>A (p.Ser508=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003619071] |
Chr18:55232634 [GRCh38] Chr18:52899865 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1080T>C (p.Ala360=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003618214] |
Chr18:55257381 [GRCh38] Chr18:52924612 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.41_62del (p.Lys14fs) |
deletion |
Pitt-Hopkins syndrome [RCV003618256] |
Chr18:55587055..55587076 [GRCh38] Chr18:53254286..53254307 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.699G>A (p.Met233Ile) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003618870] |
Chr18:55275709 [GRCh38] Chr18:52942940 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.499+15T>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003618871] |
Chr18:55350859 [GRCh38] Chr18:53018090 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.145+18T>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003618615] |
Chr18:55585262 [GRCh38] Chr18:53252493 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.72+12C>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003618618] |
Chr18:55587033 [GRCh38] Chr18:53254264 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.990+16C>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003618335] |
Chr18:55261450 [GRCh38] Chr18:52928681 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1649+9A>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003617676] |
Chr18:55232500 [GRCh38] Chr18:52899731 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1650-7C>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003617723] |
Chr18:55229083 [GRCh38] Chr18:52896314 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.347C>T (p.Ser116Leu) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003618706] |
Chr18:55403476 [GRCh38] Chr18:53070707 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1583C>A (p.Ser528Tyr) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003618714] |
Chr18:55232575 [GRCh38] Chr18:52899806 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1578G>A (p.Thr526=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003865627] |
Chr18:55232580 [GRCh38] Chr18:52899811 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.160A>T (p.Ser54Cys) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003870586]|not provided [RCV005235738] |
Chr18:55464123 [GRCh38] Chr18:53131354 [GRCh37] Chr18:18q21.2 |
uncertain significance |
GRCh37/hg19 18q21.2(chr18:53089162-53292031)x1 |
copy number loss |
not specified [RCV003986101] |
Chr18:53089162..53292031 [GRCh37] Chr18:18q21.2 |
pathogenic |
GRCh37/hg19 18q21.2-23(chr18:48766173-78014123)x1 |
copy number loss |
not specified [RCV003986103] |
Chr18:48766173..78014123 [GRCh37] Chr18:18q21.2-23 |
pathogenic |
GRCh37/hg19 18q21.2(chr18:52978878-53100587)x1 |
copy number loss |
not specified [RCV003987281] |
Chr18:52978878..53100587 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.655+16T>C |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003864811] |
Chr18:55279535 [GRCh38] Chr18:52946766 [GRCh37] Chr18:18q21.2 |
likely benign |
GRCh37/hg19 18q21.2(chr18:52903599-53084300)x1 |
copy number loss |
not specified [RCV003987277] |
Chr18:52903599..53084300 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.500-12A>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003860785] |
Chr18:55350420 [GRCh38] Chr18:53017651 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.369+17G>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003864386] |
Chr18:55403437 [GRCh38] Chr18:53070668 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.201G>T (p.Pro67=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003840949] |
Chr18:55464082 [GRCh38] Chr18:53131313 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.655+20G>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003842554] |
Chr18:55279531 [GRCh38] Chr18:52946762 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1696G>A (p.Glu566Lys) |
single nucleotide variant |
TCF4-related disorder [RCV003899024] |
Chr18:55229030 [GRCh38] Chr18:52896261 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1134del (p.Leu379fs) |
deletion |
not provided [RCV003993354] |
Chr18:55257327 [GRCh38] Chr18:52924558 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.831del (p.Pro278fs) |
deletion |
Pitt-Hopkins syndrome [RCV003989455] |
Chr18:55269922 [GRCh38] Chr18:52937153 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1534G>T (p.Glu512Ter) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV003990256] |
Chr18:55232624 [GRCh38] Chr18:52899855 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.305-103C>A |
single nucleotide variant |
TCF4-related disorder [RCV003929416] |
Chr18:55403621 [GRCh38] Chr18:53070852 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001243226.3(TCF4):c.287-1404G>A |
single nucleotide variant |
TCF4-related disorder [RCV003942282] |
Chr18:55588540 [GRCh38] Chr18:53255771 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.537T>A (p.Gly179=) |
single nucleotide variant |
TCF4-related disorder [RCV003899228] |
Chr18:55350371 [GRCh38] Chr18:53017602 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.550-22790A>G |
single nucleotide variant |
TCF4-related disorder [RCV003921451] |
Chr18:55302446 [GRCh38] Chr18:52969677 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.237C>G (p.His79Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004466484] |
Chr18:55461086 [GRCh38] Chr18:53128317 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.991-5T>A |
single nucleotide variant |
Inborn genetic diseases [RCV004466487] |
Chr18:55260032 [GRCh38] Chr18:52927263 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.305-150G>A |
single nucleotide variant |
not provided [RCV004585345] |
Chr18:55403668 [GRCh38] Chr18:53070899 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1706G>A (p.Arg569Gln) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV004555124]|not provided [RCV005429474] |
Chr18:55229020 [GRCh38] Chr18:52896251 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1551dup (p.Glu518fs) |
duplication |
Inborn genetic diseases [RCV004466483] |
Chr18:55232606..55232607 [GRCh38] Chr18:52899837..52899838 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.505C>T (p.Gln169Ter) |
single nucleotide variant |
Inborn genetic diseases [RCV004466485]|not provided [RCV004719408] |
Chr18:55350403 [GRCh38] Chr18:53017634 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.633_634insAAAA (p.Pro212fs) |
insertion |
Inborn genetic diseases [RCV004466486] |
Chr18:55279572..55279573 [GRCh38] Chr18:52946803..52946804 [GRCh37] Chr18:18q21.2 |
pathogenic |
NC_000018.9:g.(?_52921708)_(53254347_?)del |
deletion |
Pitt-Hopkins syndrome [RCV004579815] |
Chr18:52921708..53254347 [GRCh37] Chr18:18q21.2 |
pathogenic |
NC_000018.9:g.(?_53017570)_(53131388_?)del |
deletion |
Pitt-Hopkins syndrome [RCV004579816] |
Chr18:53017570..53131388 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1609del (p.Asp537fs) |
deletion |
not provided [RCV004698162] |
Chr18:55232549 [GRCh38] Chr18:52899780 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1915dup (p.Arg639fs) |
duplication |
Pitt-Hopkins syndrome [RCV004666682] |
Chr18:55228325..55228326 [GRCh38] Chr18:52895556..52895557 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.891del (p.Pro298fs) |
deletion |
Pitt-Hopkins syndrome [RCV004595258] |
Chr18:55269862 [GRCh38] Chr18:52937093 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1650-3C>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV004595261] |
Chr18:55229079 [GRCh38] Chr18:52896310 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.952del (p.Ser318fs) |
deletion |
not provided [RCV004697463] |
Chr18:55261504 [GRCh38] Chr18:52928735 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1473G>C (p.Gln491His) |
single nucleotide variant |
Inborn genetic diseases [RCV004673637] |
Chr18:55234561 [GRCh38] Chr18:52901792 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.317G>C (p.Arg106Thr) |
single nucleotide variant |
not provided [RCV004724149] |
Chr18:55403506 [GRCh38] Chr18:53070737 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.256G>A (p.Gly86Arg) |
single nucleotide variant |
TCF4-related disorder [RCV004740845] |
Chr18:55461067 [GRCh38] Chr18:53128298 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.328T>C (p.Ser110Pro) |
single nucleotide variant |
not provided [RCV004770772] |
Chr18:55403495 [GRCh38] Chr18:53070726 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.533C>T (p.Pro178Leu) |
single nucleotide variant |
not provided [RCV004770818] |
Chr18:55350375 [GRCh38] Chr18:53017606 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1669_1670delinsGG (p.Leu557Gly) |
indel |
not provided [RCV004766156] |
Chr18:55229056..55229057 [GRCh38] Chr18:52896287..52896288 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.88G>T (p.Val30Leu) |
single nucleotide variant |
not provided [RCV004768204] |
Chr18:55585337 [GRCh38] Chr18:53252568 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1778G>T (p.Arg593Leu) |
single nucleotide variant |
not provided [RCV004781081] |
Chr18:55228948 [GRCh38] Chr18:52896179 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1775del (p.Gly592fs) |
deletion |
not provided [RCV004811061] |
Chr18:55228951 [GRCh38] Chr18:52896182 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.1719C>A (p.Asn573Lys) |
single nucleotide variant |
not specified [RCV004702988] |
Chr18:55229007 [GRCh38] Chr18:52896238 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.-448T>G |
single nucleotide variant |
not specified [RCV004771445] |
Chr18:55588465 [GRCh38] Chr18:53255696 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.721A>C (p.Met241Leu) |
single nucleotide variant |
not provided [RCV004762299] |
Chr18:55275687 [GRCh38] Chr18:52942918 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1469C>T (p.Pro490Leu) |
single nucleotide variant |
not provided [RCV004762782] |
Chr18:55234565 [GRCh38] Chr18:52901796 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1051T>A (p.Ser351Thr) |
single nucleotide variant |
not provided [RCV004772812] |
Chr18:55259967 [GRCh38] Chr18:52927198 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1688C>T (p.Ala563Val) |
single nucleotide variant |
not provided [RCV004773326] |
Chr18:55229038 [GRCh38] Chr18:52896269 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.688T>A (p.Ser230Thr) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV004764347] |
Chr18:55275720 [GRCh38] Chr18:52942951 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1745G>C (p.Arg582Pro) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV004765103] |
Chr18:55228981 [GRCh38] Chr18:52896212 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1166G>A (p.Arg389His) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV005104914]|not provided [RCV004762737] |
Chr18:55254681 [GRCh38] Chr18:52921912 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.370-1G>A |
single nucleotide variant |
not provided [RCV004729347] |
Chr18:55351004 [GRCh38] Chr18:53018235 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.1753A>G (p.Asn585Asp) |
single nucleotide variant |
not provided [RCV004702080] |
Chr18:55228973 [GRCh38] Chr18:52896204 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1236del (p.Gly413fs) |
deletion |
TCF4-related disorder [RCV004729877] |
Chr18:55254611 [GRCh38] Chr18:52921842 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.85C>T (p.Pro29Ser) |
single nucleotide variant |
not provided [RCV004774066] |
Chr18:55585340 [GRCh38] Chr18:53252571 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1901C>T (p.Ala634Val) |
single nucleotide variant |
not provided [RCV005052573] |
Chr18:55228340 [GRCh38] Chr18:52895571 [GRCh37] Chr18:18q21.2 |
uncertain significance |
GRCh37/hg19 18q11.2-23(chr18:19309942-78014123)x3 |
copy number gain |
not provided [RCV004819319] |
Chr18:19309942..78014123 [GRCh37] Chr18:18q11.2-23 |
pathogenic |
NM_001083962.2(TCF4):c.1793A>G (p.His598Arg) |
single nucleotide variant |
not provided [RCV004820562] |
Chr18:55228933 [GRCh38] Chr18:52896164 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.804C>G (p.His268Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV004971480] |
Chr18:55269949 [GRCh38] Chr18:52937180 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.980C>A (p.Ala327Glu) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV004820970] |
Chr18:55261476 [GRCh38] Chr18:52928707 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.1649+6A>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV005026279] |
Chr18:55232503 [GRCh38] Chr18:52899734 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.2004G>T (p.Met668Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV004971481] |
Chr18:55228237 [GRCh38] Chr18:52895468 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1714G>C (p.Ala572Pro) |
single nucleotide variant |
not provided [RCV004823637] |
Chr18:55229012 [GRCh38] Chr18:52896243 [GRCh37] Chr18:18q21.2 |
likely pathogenic|uncertain significance |
NM_001083962.2(TCF4):c.1031A>G (p.Asn344Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV004971479] |
Chr18:55259987 [GRCh38] Chr18:52927218 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1351-11C>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV005064626] |
Chr18:55234694 [GRCh38] Chr18:52901925 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1491G>A (p.Met497Ile) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV005171323] |
Chr18:55232667 [GRCh38] Chr18:52899898 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1495C>G (p.Pro499Ala) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV005170030] |
Chr18:55232663 [GRCh38] Chr18:52899894 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.376C>T (p.Leu126Phe) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV005105970] |
Chr18:55350997 [GRCh38] Chr18:53018228 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.705G>C (p.Gln235His) |
single nucleotide variant |
not provided [RCV005054917] |
Chr18:55275703 [GRCh38] Chr18:52942934 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.146-17T>C |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV005060230] |
Chr18:55464154 [GRCh38] Chr18:53131385 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.45G>A (p.Glu15=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV005170795] |
Chr18:55587072 [GRCh38] Chr18:53254303 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1732C>A (p.Arg578Ser) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV005195091] |
Chr18:55228994 [GRCh38] Chr18:52896225 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.1754A>T (p.Asn585Ile) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV005133895] |
Chr18:55228972 [GRCh38] Chr18:52896203 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1256A>G (p.His419Arg) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV005201678] |
Chr18:55254591 [GRCh38] Chr18:52921822 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.830T>G (p.Leu277Arg) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV005122209] |
Chr18:55269923 [GRCh38] Chr18:52937154 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1712T>G (p.Met571Arg) |
single nucleotide variant |
not provided [RCV005250640] |
Chr18:55229014 [GRCh38] Chr18:52896245 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1758G>A (p.Glu586=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV005148667] |
Chr18:55228968 [GRCh38] Chr18:52896199 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.489T>A (p.Ser163Arg) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV005114680] |
Chr18:55350884 [GRCh38] Chr18:53018115 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.914G>A (p.Ser305Asn) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV005079877] |
Chr18:55269839 [GRCh38] Chr18:52937070 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.641C>A (p.Ser214Tyr) |
single nucleotide variant |
not provided [RCV005250758] |
Chr18:55279565 [GRCh38] Chr18:52946796 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.128G>T (p.Gly43Val) |
single nucleotide variant |
not specified [RCV005240059] |
Chr18:55585297 [GRCh38] Chr18:53252528 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.253C>G (p.Leu85Val) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV005114681] |
Chr18:55461070 [GRCh38] Chr18:53128301 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.19A>G (p.Met7Val) |
single nucleotide variant |
not provided [RCV005236361] |
Chr18:55587098 [GRCh38] Chr18:53254329 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1879+19C>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV005183992] |
Chr18:55228828 [GRCh38] Chr18:52896059 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1880-1G>A |
single nucleotide variant |
not provided [RCV005367918] |
Chr18:55228362 [GRCh38] Chr18:52895593 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.856del (p.Ser286fs) |
deletion |
Pitt-Hopkins syndrome [RCV005232620] |
Chr18:55269897 [GRCh38] Chr18:52937128 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.474G>A (p.Arg158=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV005118761] |
Chr18:55350899 [GRCh38] Chr18:53018130 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1147-6C>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV005198514] |
Chr18:55254706 [GRCh38] Chr18:52921937 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1065C>G (p.Leu355=) |
single nucleotide variant |
not provided [RCV005243032] |
Chr18:55259953 [GRCh38] Chr18:52927184 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.305-14G>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV005119472] |
Chr18:55403532 [GRCh38] Chr18:53070763 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1896G>A (p.Pro632=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV005191425] |
Chr18:55228345 [GRCh38] Chr18:52895576 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1243_1265dup (p.Gly423fs) |
duplication |
not provided [RCV005242887] |
Chr18:55254581..55254582 [GRCh38] Chr18:52921812..52921813 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.180G>T (p.Gly60=) |
single nucleotide variant |
not provided [RCV005242914] |
Chr18:55464103 [GRCh38] Chr18:53131334 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1486+5del |
deletion |
Pitt-Hopkins syndrome [RCV005199135] |
Chr18:55234543 [GRCh38] Chr18:52901774 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.500-20G>C |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV005199200] |
Chr18:55350428 [GRCh38] Chr18:53017659 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.896C>T (p.Pro299Leu) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV005117218] |
Chr18:55269857 [GRCh38] Chr18:52937088 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1034C>T (p.Pro345Leu) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV005142769] |
Chr18:55259984 [GRCh38] Chr18:52927215 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1140C>G (p.His380Gln) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV005167642] |
Chr18:55257321 [GRCh38] Chr18:52924552 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1095T>C (p.Asn365=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV005207014] |
Chr18:55257366 [GRCh38] Chr18:52924597 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1331C>G (p.Ala444Gly) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV005159435] |
Chr18:55254516 [GRCh38] Chr18:52921747 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1707G>A (p.Arg569=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV005186242] |
Chr18:55229019 [GRCh38] Chr18:52896250 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1983G>A (p.Met661Ile) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV005115351] |
Chr18:55228258 [GRCh38] Chr18:52895489 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.543A>G (p.Pro181=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV005135987] |
Chr18:55350365 [GRCh38] Chr18:53017596 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.897T>A (p.Pro299=) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV005203291] |
Chr18:55269856 [GRCh38] Chr18:52937087 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1176A>C (p.Arg392Ser) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV005163172] |
Chr18:55254671 [GRCh38] Chr18:52921902 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1301G>A (p.Gly434Asp) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV005142495] |
Chr18:55254546 [GRCh38] Chr18:52921777 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1810_1815del (p.Pro604_Gln605del) |
deletion |
Pitt-Hopkins syndrome [RCV005199010] |
Chr18:55228911..55228916 [GRCh38] Chr18:52896142..52896147 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1058C>T (p.Pro353Leu) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV005158991] |
Chr18:55259960 [GRCh38] Chr18:52927191 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1351-18T>A |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV005201636] |
Chr18:55234701 [GRCh38] Chr18:52901932 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1879+15G>C |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV005124574] |
Chr18:55228832 [GRCh38] Chr18:52896063 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.316_317del (p.Arg106fs) |
deletion |
Pitt-Hopkins syndrome [RCV005113356] |
Chr18:55403506..55403507 [GRCh38] Chr18:53070737..53070738 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1364G>A (p.Arg455His) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV005125146] |
Chr18:55234670 [GRCh38] Chr18:52901901 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1235dup (p.Gly413fs) |
duplication |
Pitt-Hopkins syndrome [RCV005128583] |
Chr18:55254611..55254612 [GRCh38] Chr18:52921842..52921843 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.73-8T>C |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV005125329] |
Chr18:55585360 [GRCh38] Chr18:53252591 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1721A>T (p.Asn574Ile) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV005131223] |
Chr18:55229005 [GRCh38] Chr18:52896236 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.1372G>A (p.Gly458Ser) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV005126460] |
Chr18:55234662 [GRCh38] Chr18:52901893 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.207+7A>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV005129063] |
Chr18:55464069 [GRCh38] Chr18:53131300 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.1623C>G (p.Ile541Met) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV005155690] |
Chr18:55232535 [GRCh38] Chr18:52899766 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.655+9C>G |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV005107384] |
Chr18:55279542 [GRCh38] Chr18:52946773 [GRCh37] Chr18:18q21.2 |
likely benign |
NM_001083962.2(TCF4):c.3G>A (p.Met1Ile) |
single nucleotide variant |
not provided [RCV005256106] |
Chr18:55587114 [GRCh38] Chr18:53254345 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.595C>T (p.Pro199Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV005291712] |
Chr18:55279611 [GRCh38] Chr18:52946842 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1146+3A>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV005253276] |
Chr18:55257312 [GRCh38] Chr18:52924543 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1819A>G (p.Lys607Glu) |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV005253430] |
Chr18:55228907 [GRCh38] Chr18:52896138 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1553A>T (p.Glu518Val) |
single nucleotide variant |
Inborn genetic diseases [RCV005291709] |
Chr18:55232605 [GRCh38] Chr18:52899836 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1702G>A (p.Glu568Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV005291711] |
Chr18:55229024 [GRCh38] Chr18:52896255 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.152A>G (p.Glu51Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV005283151] |
Chr18:55464131 [GRCh38] Chr18:53131362 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.990+1G>C |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV005255845] |
Chr18:55261465 [GRCh38] Chr18:52928696 [GRCh37] Chr18:18q21.2 |
likely pathogenic |
NM_001083962.2(TCF4):c.1650-3C>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV005252229] |
Chr18:55229079 [GRCh38] Chr18:52896310 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.854del (p.Arg285fs) |
deletion |
not provided [RCV005425629] |
Chr18:55269899 [GRCh38] Chr18:52937130 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.1972C>T (p.His658Tyr) |
single nucleotide variant |
not provided [RCV005429860] |
Chr18:55228269 [GRCh38] Chr18:52895500 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.991-9T>A |
single nucleotide variant |
not provided [RCV005423493] |
Chr18:55260036 [GRCh38] Chr18:52927267 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1486+1G>A |
single nucleotide variant |
not provided [RCV005417022] |
Chr18:55234547 [GRCh38] Chr18:52901778 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.75G>A (p.Met25Ile) |
single nucleotide variant |
not provided [RCV005423671] |
Chr18:55585350 [GRCh38] Chr18:53252581 [GRCh37] Chr18:18q21.2 |
uncertain significance |
NM_001083962.2(TCF4):c.1426C>T (p.Gln476Ter) |
single nucleotide variant |
not provided [RCV005413004] |
Chr18:55234608 [GRCh38] Chr18:52901839 [GRCh37] Chr18:18q21.2 |
pathogenic |
NM_001083962.2(TCF4):c.550-1G>T |
single nucleotide variant |
Pitt-Hopkins syndrome [RCV005411128] |
Chr18:55279657 [GRCh38] Chr18:52946888 [GRCh37] Chr18:18q21.2 |
likely pathogenic |