NM_004387.4(NKX2-5):c.889G>T (p.Val297Phe) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000532333]|Cardiovascular phenotype [RCV000617437] |
Chr5:173232655 [GRCh38] Chr5:172659658 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.590G>A (p.Arg197Gln) |
single nucleotide variant |
not provided [RCV000519325] |
Chr5:173232954 [GRCh38] Chr5:172659957 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.461A>G (p.Glu154Gly) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000144176] |
Chr5:173233083 [GRCh38] Chr5:172660086 [GRCh37] Chr5:5q35.1 |
pathogenic |
NM_004387.4(NKX2-5):c.618del (p.Leu207fs) |
deletion |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000144177] |
Chr5:173232926 [GRCh38] Chr5:172659929 [GRCh37] Chr5:5q35.1 |
pathogenic |
NM_004387.4(NKX2-5):c.721_728del (p.Tyr241fs) |
deletion |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000144178] |
Chr5:173232816..173232823 [GRCh38] Chr5:172659819..172659826 [GRCh37] Chr5:5q35.1 |
pathogenic |
NM_004387.4(NKX2-5):c.809G>A (p.Cys270Tyr) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000644453]|Cardiovascular phenotype [RCV000617639]|Single ventricle [RCV000144179] |
Chr5:173232735 [GRCh38] Chr5:172659738 [GRCh37] Chr5:5q35.1 |
likely benign|uncertain significance |
NM_004387.4(NKX2-5):c.707C>A (p.Pro236His) |
single nucleotide variant |
Asplenia, isolated congenital [RCV000032628] |
Chr5:173232837 [GRCh38] Chr5:172659840 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.44A>T (p.Lys15Ile) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000023020] |
Chr5:173235040 [GRCh38] Chr5:172662043 [GRCh37] Chr5:5q35.1 |
pathogenic |
NM_004387.4(NKX2-5):c.380C>A (p.Ala127Glu) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000023021] |
Chr5:173233164 [GRCh38] Chr5:172660167 [GRCh37] Chr5:5q35.1 |
pathogenic |
NKX2-5, 3-BP DEL, 871AAC |
deletion |
Double outlet right ventricle [RCV000023022] |
Chr5:5q34 |
pathogenic |
NM_004387.4(NKX2-5):c.848C>A (p.Pro283Gln) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000539285]|Ventricular septal defect 3 [RCV000023023]|not provided [RCV000421219] |
Chr5:173232696 [GRCh38] Chr5:172659699 [GRCh37] Chr5:5q35.1 |
pathogenic|uncertain significance |
NM_004387.4(NKX2-5):c.175C>G (p.Pro59Ala) |
single nucleotide variant |
Ventricular septal defect 3 [RCV000023024] |
Chr5:173234909 [GRCh38] Chr5:172661912 [GRCh37] Chr5:5q35.1 |
pathogenic |
NM_004387.4(NKX2-5):c.769C>G (p.Pro257Ala) |
single nucleotide variant |
Ventricular septal defect 3 [RCV000023025] |
Chr5:173232775 [GRCh38] Chr5:172659778 [GRCh37] Chr5:5q35.1 |
pathogenic |
NM_004387.4(NKX2-5):c.237G>A (p.Pro79=) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000030335] |
Chr5:173234847 [GRCh38] Chr5:172661850 [GRCh37] Chr5:5q35.1 |
likely benign |
NM_004387.4(NKX2-5):c.237G>C (p.Pro79=) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000030336]|Cardiovascular phenotype [RCV000617707]|not specified [RCV000301072] |
Chr5:173234847 [GRCh38] Chr5:172661850 [GRCh37] Chr5:5q35.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_004387.4(NKX2-5):c.543G>A (p.Gln181=) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000227846]|Atrial septal defect [RCV000030337]|Cardiovascular phenotype [RCV000618622]|Lissencephaly 3 [RCV001258246]|not specified [RCV000146753] |
Chr5:173233001 [GRCh38] Chr5:172660004 [GRCh37] Chr5:5q35.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_004387.4(NKX2-5):c.543G>C (p.Gln181His) |
single nucleotide variant |
Atrial septal defect-atrioventricular conduction defects syndrome [RCV000588165] |
Chr5:173233001 [GRCh38] Chr5:172660004 [GRCh37] Chr5:5q35.1 |
pathogenic|likely pathogenic |
NKX2-5, IVS1DS, G-T, +1 |
single nucleotide variant |
Atrioventricular block, idiopathic second-degree [RCV000009571] |
Chr5:5q34 |
uncertain significance |
NM_004387.4(NKX2-5):c.533C>T (p.Thr178Met) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000009568] |
Chr5:173233011 [GRCh38] Chr5:172660014 [GRCh37] Chr5:5q35.1 |
pathogenic |
NM_004387.4(NKX2-5):c.508C>T (p.Gln170Ter) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000009569] |
Chr5:173233036 [GRCh38] Chr5:172660039 [GRCh37] Chr5:5q35.1 |
pathogenic |
NM_004387.4(NKX2-5):c.592C>T (p.Gln198Ter) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000009570] |
Chr5:173232952 [GRCh38] Chr5:172659955 [GRCh37] Chr5:5q35.1 |
pathogenic |
NM_004387.4(NKX2-5):c.73C>T (p.Arg25Cys) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000987632]|Cardiovascular phenotype [RCV000619696]|Congenital heart disease [RCV000030339]|Hypoplastic left heart syndrome 2 [RCV000023019]|Hypothyroidism, congenital, nongoitrous, 5 [RCV000009573]|Interrupted aortic arch [RCV000023017]|Tetralogy of Fallot [RCV000009572]|Truncus arteriosus [RCV000023018]|not specified [RCV000037968] |
Chr5:173235011 [GRCh38] Chr5:172662014 [GRCh37] Chr5:5q35.1 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_004387.4(NKX2-5):c.61G>C (p.Glu21Gln) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000987633]|Cardiovascular phenotype [RCV000618034]|Congenital heart disease [RCV000030618]|Tetralogy of Fallot [RCV000009574]|not provided [RCV000514277]|not specified [RCV000171013] |
Chr5:173235023 [GRCh38] Chr5:172662026 [GRCh37] Chr5:5q35.1 |
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_004387.4(NKX2-5):c.646C>T (p.Arg216Cys) |
single nucleotide variant |
Tetralogy of Fallot [RCV000009575] |
Chr5:173232898 [GRCh38] Chr5:172659901 [GRCh37] Chr5:5q35.1 |
pathogenic |
NM_004387.4(NKX2-5):c.656C>T (p.Ala219Val) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000525369]|Tetralogy of Fallot [RCV000009576] |
Chr5:173232888 [GRCh38] Chr5:172659891 [GRCh37] Chr5:5q35.1 |
pathogenic|uncertain significance |
NM_004387.4(NKX2-5):c.215_221del (p.Glu72fs) |
deletion |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000009577] |
Chr5:173234863..173234869 [GRCh38] Chr5:172661866..172661872 [GRCh37] Chr5:5q35.1 |
pathogenic |
NM_004387.4(NKX2-5):c.224_225GC[2] (p.Pro77fs) |
microsatellite |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000009578] |
Chr5:173234855..173234856 [GRCh38] Chr5:172661858..172661859 [GRCh37] Chr5:5q35.1 |
pathogenic |
NM_004387.4(NKX2-5):c.896A>G (p.Asp299Gly) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000009579]|Atrioventricular septal defect, somatic [RCV000009580] |
Chr5:173232648 [GRCh38] Chr5:172659651 [GRCh37] Chr5:5q35.1 |
pathogenic|other |
NM_004387.4(NKX2-5):c.262del (p.Ala88fs) |
deletion |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000009581] |
Chr5:173234822 [GRCh38] Chr5:172661825 [GRCh37] Chr5:5q35.1 |
pathogenic |
NM_004387.4(NKX2-5):c.568C>T (p.Arg190Cys) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000009582] |
Chr5:173232976 [GRCh38] Chr5:172659979 [GRCh37] Chr5:5q35.1 |
pathogenic |
NM_004387.4(NKX2-5):c.768T>A (p.Tyr256Ter) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000009583] |
Chr5:173232776 [GRCh38] Chr5:172659779 [GRCh37] Chr5:5q35.1 |
pathogenic |
NM_004387.4(NKX2-5):c.355G>T (p.Ala119Ser) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000230156]|Cardiovascular phenotype [RCV000620259]|Hypothyroidism, congenital, nongoitrous, 5 [RCV000009584]|not specified [RCV000171007] |
Chr5:173233189 [GRCh38] Chr5:172660192 [GRCh37] Chr5:5q35.1 |
pathogenic|benign|likely benign |
NM_004387.4(NKX2-5):c.482G>C (p.Arg161Pro) |
single nucleotide variant |
Hypothyroidism, congenital, nongoitrous, 5 [RCV000009585] |
Chr5:173233062 [GRCh38] Chr5:172660065 [GRCh37] Chr5:5q35.1 |
pathogenic |
NM_004387.4(NKX2-5):c.547A>G (p.Lys183Glu) |
single nucleotide variant |
Atrioventricular septal defect, somatic [RCV000009586] |
Chr5:173232997 [GRCh38] Chr5:172660000 [GRCh37] Chr5:5q35.1 |
pathogenic|other |
NM_004387.4(NKX2-5):c.839C>T (p.Pro280Leu) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000526273]|Cardiovascular phenotype [RCV000620094] |
Chr5:173232705 [GRCh38] Chr5:172659708 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.280C>T (p.Pro94Ser) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000549035] |
Chr5:173234804 [GRCh38] Chr5:172661807 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.247G>A (p.Ala83Thr) |
single nucleotide variant |
not provided [RCV000520166] |
Chr5:173234837 [GRCh38] Chr5:172661840 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.400_402delinsAT (p.Arg134fs) |
indel |
Heart, malformation of [RCV000037965] |
Chr5:173233142..173233144 [GRCh38] Chr5:172660145..172660147 [GRCh37] Chr5:5q35.1 |
likely pathogenic |
NM_004387.4(NKX2-5):c.437C>G (p.Ser146Trp) |
single nucleotide variant |
not specified [RCV000037966] |
Chr5:173233107 [GRCh38] Chr5:172660110 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.63A>G (p.Glu21=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000621997]|not specified [RCV000037967] |
Chr5:173235021 [GRCh38] Chr5:172662024 [GRCh37] Chr5:5q35.1 |
benign |
GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3 |
copy number gain |
See cases [RCV000051863] |
Chr5:149714592..181272151 [GRCh38] Chr5:149094155..180699152 [GRCh37] Chr5:149074348..180631758 [NCBI36] Chr5:5q32-35.3 |
pathogenic |
GRCh38/hg38 5q33.3-35.3(chr5:160029980-181269805)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051865]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051865]|See cases [RCV000051865] |
Chr5:160029980..181269805 [GRCh38] Chr5:159456987..180696806 [GRCh37] Chr5:159389565..180629412 [NCBI36] Chr5:5q33.3-35.3 |
pathogenic |
GRCh38/hg38 5q34-35.3(chr5:168689326-181269946)x3 |
copy number gain |
See cases [RCV000051866] |
Chr5:168689326..181269946 [GRCh38] Chr5:168116331..180696947 [GRCh37] Chr5:168048909..180629553 [NCBI36] Chr5:5q34-35.3 |
pathogenic |
GRCh38/hg38 5q35.1-35.2(chr5:172776798-174342969)x1 |
copy number loss |
See cases [RCV000052149] |
Chr5:172776798..174342969 [GRCh38] Chr5:172203801..173769972 [GRCh37] Chr5:172136407..173702578 [NCBI36] Chr5:5q35.1-35.2 |
pathogenic |
GRCh38/hg38 5q35.1-35.2(chr5:172961091-175054665)x1 |
copy number loss |
See cases [RCV000052150] |
Chr5:172961091..175054665 [GRCh38] Chr5:172388094..174481668 [GRCh37] Chr5:172320700..174414274 [NCBI36] Chr5:5q35.1-35.2 |
pathogenic |
NM_004387.4(NKX2-5):c.335-311A>T |
single nucleotide variant |
not specified [RCV000127210] |
Chr5:173233520 [GRCh38] Chr5:172660523 [GRCh37] Chr5:5q35.1 |
benign |
NM_004387.4(NKX2-5):c.335-307T>A |
single nucleotide variant |
not specified [RCV000127211] |
Chr5:173233516 [GRCh38] Chr5:172660519 [GRCh37] Chr5:5q35.1 |
benign |
NM_004387.4(NKX2-5):c.861C>T (p.Ala287=) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000229498]|Cardiovascular phenotype [RCV000618273]|not specified [RCV000127213] |
Chr5:173232683 [GRCh38] Chr5:172659686 [GRCh37] Chr5:5q35.1 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_004387.4(NKX2-5):c.335-162G>A |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000556878]|not specified [RCV000171009] |
Chr5:173233371 [GRCh38] Chr5:172660374 [GRCh37] Chr5:5q35.1 |
benign|likely benign|uncertain significance |
NM_004387.4(NKX2-5):c.566G>C (p.Arg189Pro) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000702426]|not provided [RCV000171010] |
Chr5:173232978 [GRCh38] Chr5:172659981 [GRCh37] Chr5:5q35.1 |
pathogenic|uncertain significance |
NM_004387.4(NKX2-5):c.632C>T (p.Pro211Leu) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000470087]|not specified [RCV000171012] |
Chr5:173232912 [GRCh38] Chr5:172659915 [GRCh37] Chr5:5q35.1 |
likely benign|uncertain significance |
NM_004387.4(NKX2-5):c.124G>C (p.Ala42Pro) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000470357]|not specified [RCV000171014] |
Chr5:173234960 [GRCh38] Chr5:172661963 [GRCh37] Chr5:5q35.1 |
likely benign|uncertain significance |
NM_004387.4(NKX2-5):c.508_516del (p.Gln170_Ala172del) |
deletion |
not provided [RCV000171015] |
Chr5:173233028..173233036 [GRCh38] Chr5:172660031..172660039 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.554_555insC (p.Trp185fs) |
insertion |
not provided [RCV000171016] |
Chr5:173232989..173232990 [GRCh38] Chr5:172659992..172659993 [GRCh37] Chr5:5q35.1 |
pathogenic |
NM_004387.4(NKX2-5):c.65A>G (p.Gln22Arg) |
single nucleotide variant |
Abnormality of cardiovascular system morphology [RCV000193266]|Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000477570]|Cardiovascular phenotype [RCV000618509]|not provided [RCV000727462] |
Chr5:173235019 [GRCh38] Chr5:172662022 [GRCh37] Chr5:5q35.1 |
likely pathogenic|uncertain significance |
NM_004387.4(NKX2-5):c.590G>C (p.Arg197Pro) |
single nucleotide variant |
not provided [RCV000171011] |
Chr5:173232954 [GRCh38] Chr5:172659957 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.335-311_335-310del |
deletion |
not provided [RCV000514236] |
Chr5:173233519..173233520 [GRCh38] Chr5:172660522..172660523 [GRCh37] Chr5:5q35.1 |
likely benign |
GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3 |
copy number gain |
See cases [RCV000133847] |
Chr5:156825512..181269805 [GRCh38] Chr5:156252523..180696806 [GRCh37] Chr5:156185101..180629412 [NCBI36] Chr5:5q33.3-35.3 |
pathogenic |
NM_004387.4(NKX2-5):c.471_472del (p.Phe157fs) |
deletion |
Malformation of the heart and great vessels [RCV000146752] |
Chr5:173233072..173233073 [GRCh38] Chr5:172660075..172660076 [GRCh37] Chr5:5q35.1 |
pathogenic |
NM_004387.4(NKX2-5):c.606G>C (p.Leu202=) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000471215]|Cardiovascular phenotype [RCV000617386]|not specified [RCV000146754] |
Chr5:173232938 [GRCh38] Chr5:172659941 [GRCh37] Chr5:5q35.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_004387.4(NKX2-5):c.783del (p.Ala262fs) |
deletion |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000550275]|Malformation of the heart and great vessels [RCV000146756] |
Chr5:173232761 [GRCh38] Chr5:172659764 [GRCh37] Chr5:5q35.1 |
pathogenic|uncertain significance |
GRCh38/hg38 5q34-35.3(chr5:164386701-181269805)x3 |
copy number gain |
See cases [RCV000135546] |
Chr5:164386701..181269805 [GRCh38] Chr5:163813707..180696806 [GRCh37] Chr5:163746285..180629412 [NCBI36] Chr5:5q34-35.3 |
pathogenic |
GRCh38/hg38 5q35.1-35.3(chr5:169334755-181285301)x3 |
copy number gain |
See cases [RCV000141249] |
Chr5:169334755..181285301 [GRCh38] Chr5:168761759..180712302 [GRCh37] Chr5:168694337..180644908 [NCBI36] Chr5:5q35.1-35.3 |
pathogenic |
NM_004387.4(NKX2-5):c.335-310dup |
duplication |
not specified [RCV000203109] |
Chr5:173233505..173233506 [GRCh38] Chr5:172660508..172660509 [GRCh37] Chr5:5q35.1 |
benign |
NM_004387.4(NKX2-5):c.685_686dup (p.Cys230fs) |
duplication |
not provided [RCV000175778] |
Chr5:173232857..173232858 [GRCh38] Chr5:172659860..172659861 [GRCh37] Chr5:5q35.1 |
pathogenic |
NM_004387.4(NKX2-5):c.114G>A (p.Glu38=) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000560213]|Cardiovascular phenotype [RCV000617700]|not specified [RCV000193903] |
Chr5:173234970 [GRCh38] Chr5:172661973 [GRCh37] Chr5:5q35.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_004387.4(NKX2-5):c.512T>G (p.Leu171Arg) |
single nucleotide variant |
Abnormality of cardiovascular system morphology [RCV000192960] |
Chr5:173233032 [GRCh38] Chr5:172660035 [GRCh37] Chr5:5q35.1 |
pathogenic |
NM_004387.4(NKX2-5):c.554G>T (p.Trp185Leu) |
single nucleotide variant |
Abnormality of cardiovascular system morphology [RCV000193839] |
Chr5:173232990 [GRCh38] Chr5:172659993 [GRCh37] Chr5:5q35.1 |
pathogenic |
NM_004387.4(NKX2-5):c.635C>A (p.Pro212Gln) |
single nucleotide variant |
not specified [RCV000195044] |
Chr5:173232909 [GRCh38] Chr5:172659912 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.478_480delinsGTACCGTT (p.Gln160fs) |
indel |
Abnormality of cardiovascular system morphology [RCV000195107]|not provided [RCV000484660] |
Chr5:173233064..173233066 [GRCh38] Chr5:172660067..172660069 [GRCh37] Chr5:5q35.1 |
pathogenic|likely pathogenic |
NM_004387.4(NKX2-5):c.*61G>T |
single nucleotide variant |
not specified [RCV000192692] |
Chr5:173232508 [GRCh38] Chr5:172659511 [GRCh37] Chr5:5q35.1 |
benign |
NM_004387.4(NKX2-5):c.65A>C (p.Gln22Pro) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000542359]|not provided [RCV000786392] |
Chr5:173235019 [GRCh38] Chr5:172662022 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.391G>A (p.Glu131Lys) |
single nucleotide variant |
Congenital heart disease [RCV000203502] |
Chr5:173233153 [GRCh38] Chr5:172660156 [GRCh37] Chr5:5q35.1 |
pathogenic |
NM_004387.4(NKX2-5):c.335-12G>A |
single nucleotide variant |
Congenital heart disease [RCV000203520] |
Chr5:173233221 [GRCh38] Chr5:172660224 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.443C>A (p.Ala148Glu) |
single nucleotide variant |
Congenital heart disease [RCV000203525] |
Chr5:173233101 [GRCh38] Chr5:172660104 [GRCh37] Chr5:5q35.1 |
pathogenic |
NM_004387.4(NKX2-5):c.182C>G (p.Ala61Gly) |
single nucleotide variant |
Congenital heart disease [RCV000203543] |
Chr5:173234902 [GRCh38] Chr5:172661905 [GRCh37] Chr5:5q35.1 |
pathogenic |
NM_004387.4(NKX2-5):c.335-20G>A |
single nucleotide variant |
Congenital heart disease [RCV000203544] |
Chr5:173233229 [GRCh38] Chr5:172660232 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.335-1G>T |
single nucleotide variant |
Congenital heart disease [RCV000203558] |
Chr5:173233210 [GRCh38] Chr5:172660213 [GRCh37] Chr5:5q35.1 |
pathogenic |
NM_004387.4(NKX2-5):c.938C>T (p.Ser313Leu) |
single nucleotide variant |
not provided [RCV000213088] |
Chr5:173232606 [GRCh38] Chr5:172659609 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.752del (p.Asn251fs) |
deletion |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000234875] |
Chr5:173232792 [GRCh38] Chr5:172659795 [GRCh37] Chr5:5q35.1 |
pathogenic|likely pathogenic |
NM_004387.4(NKX2-5):c.335-3C>G |
single nucleotide variant |
Heart, malformation of [RCV000219333] |
Chr5:173233212 [GRCh38] Chr5:172660215 [GRCh37] Chr5:5q35.1 |
likely pathogenic|uncertain significance |
NM_004387.3(NKX2-5):c.-229_*465del |
deletion |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000229712] |
Chr5:173232104..173235312 [GRCh38] Chr5:172659107..172662315 [GRCh37] Chr5:5q35.1 |
pathogenic |
NM_004387.4(NKX2-5):c.298C>G (p.Pro100Ala) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000226256] |
Chr5:173234786 [GRCh38] Chr5:172661789 [GRCh37] Chr5:5q35.1 |
likely benign |
NM_004387.4(NKX2-5):c.514G>A (p.Ala172Thr) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000232942] |
Chr5:173233030 [GRCh38] Chr5:172660033 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.443del (p.Ala148fs) |
deletion |
not provided [RCV000223727] |
Chr5:173233101 [GRCh38] Chr5:172660104 [GRCh37] Chr5:5q35.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
NM_004387.4(NKX2-5):c.334+1G>T |
single nucleotide variant |
Atrioventricular block, idiopathic second-degree [RCV000009571]|not provided [RCV000223896] |
Chr5:173234749 [GRCh38] Chr5:172661752 [GRCh37] Chr5:5q35.1 |
pathogenic|uncertain significance |
NM_004387.4(NKX2-5):c.173G>T (p.Gly58Val) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV001038484]|Cardiovascular phenotype [RCV000621821] |
Chr5:173234911 [GRCh38] Chr5:172661914 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.450C>T (p.Val150=) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000868349]|Cardiovascular phenotype [RCV000620978] |
Chr5:173233094 [GRCh38] Chr5:172660097 [GRCh37] Chr5:5q35.1 |
likely benign |
NM_004387.4(NKX2-5):c.906G>C (p.Ala302=) |
single nucleotide variant |
Cardiovascular phenotype [RCV000620989] |
Chr5:173232638 [GRCh38] Chr5:172659641 [GRCh37] Chr5:5q35.1 |
likely benign |
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 |
copy number gain |
not provided [RCV000487658] |
Chr5:94844077..178830410 [GRCh37] Chr5:5q15-35.3 |
likely benign |
NM_004387.4(NKX2-5):c.594G>A (p.Gln198=) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000463430]|Cardiovascular phenotype [RCV000619732]|not specified [RCV000242763] |
Chr5:173232950 [GRCh38] Chr5:172659953 [GRCh37] Chr5:5q35.1 |
benign |
NM_004387.4(NKX2-5):c.768T>G (p.Tyr256Ter) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000240621] |
Chr5:173232776 [GRCh38] Chr5:172659779 [GRCh37] Chr5:5q35.1 |
pathogenic |
NM_004387.4(NKX2-5):c.769C>A (p.Pro257Thr) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV001061626]|not provided [RCV000294434] |
Chr5:173232775 [GRCh38] Chr5:172659778 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.886G>A (p.Gly296Ser) |
single nucleotide variant |
not provided [RCV000519820] |
Chr5:173232658 [GRCh38] Chr5:172659661 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.35T>C (p.Phe12Ser) |
single nucleotide variant |
not provided [RCV000489523] |
Chr5:173235049 [GRCh38] Chr5:172662052 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.662C>T (p.Pro221Leu) |
single nucleotide variant |
not provided [RCV000587249] |
Chr5:173232882 [GRCh38] Chr5:172659885 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.448G>A (p.Val150Ile) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV001227312]|Cardiovascular phenotype [RCV000622055] |
Chr5:173233096 [GRCh38] Chr5:172660099 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.342C>G (p.Cys114Trp) |
single nucleotide variant |
Cardiovascular phenotype [RCV000617599] |
Chr5:173233202 [GRCh38] Chr5:172660205 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.447G>C (p.Gln149His) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000549940] |
Chr5:173233097 [GRCh38] Chr5:172660100 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.402_407dup (p.Ala135_Arg136dup) |
duplication |
not provided [RCV000521992] |
Chr5:173233136..173233137 [GRCh38] Chr5:172660139..172660140 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.608A>G (p.Glu203Gly) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV001240727]|Cardiovascular phenotype [RCV000621713] |
Chr5:173232936 [GRCh38] Chr5:172659939 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.356C>A (p.Ala119Glu) |
single nucleotide variant |
not specified [RCV000414455] |
Chr5:173233188 [GRCh38] Chr5:172660191 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.474G>T (p.Lys158Asn) |
single nucleotide variant |
not specified [RCV000413858] |
Chr5:173233070 [GRCh38] Chr5:172660073 [GRCh37] Chr5:5q35.1 |
uncertain significance |
GRCh37/hg19 5q34-35.1(chr5:164207156-172799124)x1 |
copy number loss |
See cases [RCV000447112] |
Chr5:164207156..172799124 [GRCh37] Chr5:5q34-35.1 |
pathogenic |
NM_004387.4(NKX2-5):c.827C>G (p.Ala276Gly) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000644446]|not provided [RCV000434919] |
Chr5:173232717 [GRCh38] Chr5:172659720 [GRCh37] Chr5:5q35.1 |
uncertain significance |
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) |
copy number gain |
See cases [RCV000510723] |
Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
NM_004387.4(NKX2-5):c.852C>G (p.Ala284=) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000464580]|Cardiovascular phenotype [RCV000621009]|not specified [RCV000431905] |
Chr5:173232692 [GRCh38] Chr5:172659695 [GRCh37] Chr5:5q35.1 |
likely benign |
NM_004387.4(NKX2-5):c.701C>A (p.Ser234Ter) |
single nucleotide variant |
not provided [RCV000428074] |
Chr5:173232843 [GRCh38] Chr5:172659846 [GRCh37] Chr5:5q35.1 |
likely pathogenic |
NM_004387.4(NKX2-5):c.147C>G (p.Ala49=) |
single nucleotide variant |
not provided [RCV000870347]|not specified [RCV000429735] |
Chr5:173234937 [GRCh38] Chr5:172661940 [GRCh37] Chr5:5q35.1 |
likely benign |
NM_004387.4(NKX2-5):c.777C>G (p.Tyr259Ter) |
single nucleotide variant |
not provided [RCV000432384] |
Chr5:173232767 [GRCh38] Chr5:172659770 [GRCh37] Chr5:5q35.1 |
pathogenic |
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 |
copy number gain |
See cases [RCV000448245] |
Chr5:106716357..180687338 [GRCh37] Chr5:5q21.3-35.3 |
pathogenic |
GRCh37/hg19 5q35.1-35.3(chr5:171396359-180719789)x3 |
copy number gain |
See cases [RCV000448458] |
Chr5:171396359..180719789 [GRCh37] Chr5:5q35.1-35.3 |
pathogenic |
NM_004387.4(NKX2-5):c.865_867AAC[2] (p.Asn291del) |
microsatellite |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000462724]|Double outlet right ventricle [RCV000023022] |
Chr5:173232671..173232673 [GRCh38] Chr5:172659674..172659676 [GRCh37] Chr5:5q35.1 |
pathogenic|uncertain significance |
NM_004387.4(NKX2-5):c.627_629GCC[6] (p.Pro214dup) |
microsatellite |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000462970]|Cardiovascular phenotype [RCV000617268]|not provided [RCV000786394] |
Chr5:173232902..173232903 [GRCh38] Chr5:172659905..172659906 [GRCh37] Chr5:5q35.1 |
likely benign|uncertain significance |
NM_004387.4(NKX2-5):c.627_629GCC[4] (p.Pro214del) |
microsatellite |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000456338] |
Chr5:173232903..173232905 [GRCh38] Chr5:172659906..172659908 [GRCh37] Chr5:5q35.1 |
likely benign |
NM_004387.4(NKX2-5):c.706C>A (p.Pro236Thr) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000471990] |
Chr5:173232838 [GRCh38] Chr5:172659841 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.897C>T (p.Asp299=) |
single nucleotide variant |
not provided [RCV000476111] |
Chr5:173232647 [GRCh38] Chr5:172659650 [GRCh37] Chr5:5q35.1 |
likely benign |
GRCh37/hg19 5q35.1-35.3(chr5:172031248-180719789)x3 |
copy number gain |
See cases [RCV000512068] |
Chr5:172031248..180719789 [GRCh37] Chr5:5q35.1-35.3 |
pathogenic |
NM_004387.4(NKX2-5):c.824C>T (p.Pro275Leu) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000477547]|Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000660565] |
Chr5:173232720 [GRCh38] Chr5:172659723 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.335-289G>T |
single nucleotide variant |
not provided [RCV000498218] |
Chr5:173233498 [GRCh38] Chr5:172660501 [GRCh37] Chr5:5q35.1 |
uncertain significance |
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 |
copy number loss |
See cases [RCV000511978] |
Chr5:17628741..176575720 [GRCh37] Chr5:5p15.1-q35.2 |
pathogenic |
NM_004387.4(NKX2-5):c.743A>G (p.Tyr248Cys) |
single nucleotide variant |
not provided [RCV000494374] |
Chr5:173232801 [GRCh38] Chr5:172659804 [GRCh37] Chr5:5q35.1 |
uncertain significance |
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 |
copy number gain |
See cases [RCV000512039] |
Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
NM_004387.4(NKX2-5):c.395G>C (p.Arg132Pro) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000808237]|Cardiovascular phenotype [RCV000617877] |
Chr5:173233149 [GRCh38] Chr5:172660152 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.249G>T (p.Ala83=) |
single nucleotide variant |
not provided [RCV000535966] |
Chr5:173234835 [GRCh38] Chr5:172661838 [GRCh37] Chr5:5q35.1 |
likely benign |
NM_004387.4(NKX2-5):c.943G>T (p.Val315Leu) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000540219]|not provided [RCV000998493] |
Chr5:173232601 [GRCh38] Chr5:172659604 [GRCh37] Chr5:5q35.1 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_004387.4(NKX2-5):c.377A>C (p.Glu126Ala) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000644448]|not provided [RCV000786393] |
Chr5:173233167 [GRCh38] Chr5:172660170 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.430C>T (p.Leu144Phe) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000644450] |
Chr5:173233114 [GRCh38] Chr5:172660117 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.655G>A (p.Ala219Thr) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000644451] |
Chr5:173232889 [GRCh38] Chr5:172659892 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.300C>A (p.Pro100=) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000644452] |
Chr5:173234784 [GRCh38] Chr5:172661787 [GRCh37] Chr5:5q35.1 |
benign |
NM_004387.4(NKX2-5):c.334+9G>A |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000644455] |
Chr5:173234741 [GRCh38] Chr5:172661744 [GRCh37] Chr5:5q35.1 |
likely benign |
NM_004387.4(NKX2-5):c.969C>T (p.Ala323=) |
single nucleotide variant |
not provided [RCV000867595]|not specified [RCV000612279] |
Chr5:173232575 [GRCh38] Chr5:172659578 [GRCh37] Chr5:5q35.1 |
likely benign |
NM_004387.4(NKX2-5):c.956A>G (p.His319Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV000620703] |
Chr5:173232588 [GRCh38] Chr5:172659591 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.59T>C (p.Leu20Pro) |
single nucleotide variant |
Cardiovascular phenotype [RCV000621382] |
Chr5:173235025 [GRCh38] Chr5:172662028 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.887G>A (p.Gly296Asp) |
single nucleotide variant |
Cardiovascular phenotype [RCV000617167] |
Chr5:173232657 [GRCh38] Chr5:172659660 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.491C>A (p.Ser164Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV000621937] |
Chr5:173233053 [GRCh38] Chr5:172660056 [GRCh37] Chr5:5q35.1 |
pathogenic |
NM_004387.4(NKX2-5):c.335-7C>G |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000537452]|not provided [RCV000786391] |
Chr5:173233216 [GRCh38] Chr5:172660219 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.334+9G>T |
single nucleotide variant |
not provided [RCV000892784]|not specified [RCV000607490] |
Chr5:173234741 [GRCh38] Chr5:172661744 [GRCh37] Chr5:5q35.1 |
likely benign |
NM_004387.4(NKX2-5):c.882C>T (p.Asn294=) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000556272] |
Chr5:173232662 [GRCh38] Chr5:172659665 [GRCh37] Chr5:5q35.1 |
likely benign |
NM_004387.4(NKX2-5):c.111G>A (p.Leu37=) |
single nucleotide variant |
not specified [RCV000607896] |
Chr5:173234973 [GRCh38] Chr5:172661976 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.771G>T (p.Pro257=) |
single nucleotide variant |
not specified [RCV000610574] |
Chr5:173232773 [GRCh38] Chr5:172659776 [GRCh37] Chr5:5q35.1 |
likely benign |
NM_004387.4(NKX2-5):c.583C>A (p.Arg195=) |
single nucleotide variant |
not specified [RCV000613361] |
Chr5:173232961 [GRCh38] Chr5:172659964 [GRCh37] Chr5:5q35.1 |
likely benign |
NM_004387.4(NKX2-5):c.217C>T (p.Leu73=) |
single nucleotide variant |
not specified [RCV000613785] |
Chr5:173234867 [GRCh38] Chr5:172661870 [GRCh37] Chr5:5q35.1 |
likely benign |
NM_004387.4(NKX2-5):c.492G>C (p.Ser164=) |
single nucleotide variant |
not provided [RCV000865298]|not specified [RCV000616906] |
Chr5:173233052 [GRCh38] Chr5:172660055 [GRCh37] Chr5:5q35.1 |
likely benign |
NM_004387.4(NKX2-5):c.357G>T (p.Ala119=) |
single nucleotide variant |
not specified [RCV000614035] |
Chr5:173233187 [GRCh38] Chr5:172660190 [GRCh37] Chr5:5q35.1 |
likely benign |
NM_004387.4(NKX2-5):c.753C>G (p.Asn251Lys) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV001056527]|Cardiovascular phenotype [RCV000620204] |
Chr5:173232791 [GRCh38] Chr5:172659794 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.724G>C (p.Gly242Arg) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000644444] |
Chr5:173232820 [GRCh38] Chr5:172659823 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.206T>G (p.Leu69Arg) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000644445] |
Chr5:173234878 [GRCh38] Chr5:172661881 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.241A>G (p.Lys81Glu) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000644447] |
Chr5:173234843 [GRCh38] Chr5:172661846 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.605_606del (p.Leu202fs) |
deletion |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000644449]|Inborn genetic diseases [RCV001265720]|not provided [RCV000786390] |
Chr5:173232938..173232939 [GRCh38] Chr5:172659941..172659942 [GRCh37] Chr5:5q35.1 |
pathogenic|likely pathogenic |
NM_004387.4(NKX2-5):c.309C>T (p.Ala103=) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000644454] |
Chr5:173234775 [GRCh38] Chr5:172661778 [GRCh37] Chr5:5q35.1 |
benign |
NM_004387.4(NKX2-5):c.711C>A (p.Tyr237Ter) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV001049571]|Primary dilated cardiomyopathy [RCV000626863] |
Chr5:173232833 [GRCh38] Chr5:172659836 [GRCh37] Chr5:5q35.1 |
pathogenic |
NM_004387.4(NKX2-5):c.890_891dup (p.Gly298fs) |
duplication |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV001038060]|Inborn genetic diseases [RCV000623364]|not specified [RCV001193907] |
Chr5:173232652..173232653 [GRCh38] Chr5:172659655..172659656 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.85G>A (p.Ala29Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV000617626] |
Chr5:173234999 [GRCh38] Chr5:172662002 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.298C>A (p.Pro100Thr) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000701268] |
Chr5:173234786 [GRCh38] Chr5:172661789 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.147_163delinsGCCTCCT (p.Ala50fs) |
indel |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000690794] |
Chr5:173234921..173234937 [GRCh38] Chr5:172661924..172661940 [GRCh37] Chr5:5q35.1 |
pathogenic |
NC_000005.9:g.(?_172659552)_(172672303_?)dup |
duplication |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000708133] |
Chr5:173232549..173245300 [GRCh38] Chr5:172659552..172672303 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.566G>A (p.Arg189Gln) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000700821] |
Chr5:173232978 [GRCh38] Chr5:172659981 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.82G>A (p.Ala28Thr) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000703980] |
Chr5:173235002 [GRCh38] Chr5:172662005 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.13C>T (p.Pro5Ser) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000702042] |
Chr5:173235071 [GRCh38] Chr5:172662074 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.823C>A (p.Pro275Thr) |
single nucleotide variant |
not provided [RCV000704559] |
Chr5:173232721 [GRCh38] Chr5:172659724 [GRCh37] Chr5:5q35.1 |
likely benign|uncertain significance |
NM_004387.4(NKX2-5):c.375dup (p.Glu126fs) |
duplication |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000707466] |
Chr5:173233168..173233169 [GRCh38] Chr5:172660171..172660172 [GRCh37] Chr5:5q35.1 |
pathogenic |
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 |
copy number gain |
not provided [RCV000744317] |
Chr5:13648..180905029 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 |
copy number gain |
not provided [RCV000744323] |
Chr5:25328..180693344 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
GRCh37/hg19 5q33.2-35.3(chr5:155344802-180693344)x3 |
copy number gain |
not provided [RCV000745284] |
Chr5:155344802..180693344 [GRCh37] Chr5:5q33.2-35.3 |
pathogenic |
NM_004387.4(NKX2-5):c.755C>T (p.Ala252Val) |
single nucleotide variant |
Hypertrophic cardiomyopathy [RCV000852563] |
Chr5:173232789 [GRCh38] Chr5:172659792 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.486C>A (p.Tyr162Ter) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV001052873] |
Chr5:173233058 [GRCh38] Chr5:172660061 [GRCh37] Chr5:5q35.1 |
pathogenic |
NM_004387.4(NKX2-5):c.310A>T (p.Lys104Ter) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV001058874] |
Chr5:173234774 [GRCh38] Chr5:172661777 [GRCh37] Chr5:5q35.1 |
pathogenic |
NM_004387.4(NKX2-5):c.88G>A (p.Ala30Thr) |
single nucleotide variant |
not provided [RCV000998496] |
Chr5:173234996 [GRCh38] Chr5:172661999 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.159A>T (p.Pro53=) |
single nucleotide variant |
not provided [RCV000936585] |
Chr5:173234925 [GRCh38] Chr5:172661928 [GRCh37] Chr5:5q35.1 |
likely benign |
NM_004387.4(NKX2-5):c.357G>C (p.Ala119=) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000925947] |
Chr5:173233187 [GRCh38] Chr5:172660190 [GRCh37] Chr5:5q35.1 |
benign |
NM_004387.4(NKX2-5):c.192G>A (p.Pro64=) |
single nucleotide variant |
not provided [RCV000923586] |
Chr5:173234892 [GRCh38] Chr5:172661895 [GRCh37] Chr5:5q35.1 |
likely benign |
NM_004387.4(NKX2-5):c.408A>G (p.Arg136=) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000943499] |
Chr5:173233136 [GRCh38] Chr5:172660139 [GRCh37] Chr5:5q35.1 |
likely benign |
NM_004387.4(NKX2-5):c.676G>A (p.Asp226Asn) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV001064439] |
Chr5:173232868 [GRCh38] Chr5:172659871 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NC_000005.10:g.(?_173232273)_(173245300_?)del |
deletion |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV001031990] |
Chr5:172659276..172672303 [GRCh37] Chr5:5q35.1 |
pathogenic |
NM_004387.4(NKX2-5):c.499G>A (p.Glu167Lys) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV001035517] |
Chr5:173233045 [GRCh38] Chr5:172660048 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.898T>C (p.Leu300=) |
single nucleotide variant |
not provided [RCV000937385] |
Chr5:173232646 [GRCh38] Chr5:172659649 [GRCh37] Chr5:5q35.1 |
likely benign |
NM_004387.4(NKX2-5):c.89C>A (p.Ala30Asp) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000820710] |
Chr5:173234995 [GRCh38] Chr5:172661998 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.668del (p.Leu223fs) |
deletion |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000818694] |
Chr5:173232876 [GRCh38] Chr5:172659879 [GRCh37] Chr5:5q35.1 |
likely pathogenic |
NM_004387.4(NKX2-5):c.0_334+1del |
deletion |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000818509] |
Chr5:173234749..173235311 [GRCh38] Chr5:172661752..172662314 [GRCh37] Chr5:5q35.1 |
pathogenic |
NM_004387.4(NKX2-5):c.952_953delinsGC (p.Leu318Ala) |
indel |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000824256] |
Chr5:173232591..173232592 [GRCh38] Chr5:172659594..172659595 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.287C>T (p.Ala96Val) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000798171] |
Chr5:173234797 [GRCh38] Chr5:172661800 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.96G>C (p.Glu32Asp) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV001061180] |
Chr5:173234988 [GRCh38] Chr5:172661991 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.323C>T (p.Ala108Val) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000794200] |
Chr5:173234761 [GRCh38] Chr5:172661764 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.869A>G (p.Asn290Ser) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000794908] |
Chr5:173232675 [GRCh38] Chr5:172659678 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.609G>A (p.Glu203=) |
single nucleotide variant |
not provided [RCV000841633] |
Chr5:173232935 [GRCh38] Chr5:172659938 [GRCh37] Chr5:5q35.1 |
likely benign |
GRCh37/hg19 5q35.1(chr5:172657979-172782386)x3 |
copy number gain |
not provided [RCV000846493] |
Chr5:172657979..172782386 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.317C>T (p.Pro106Leu) |
single nucleotide variant |
not provided [RCV000998495] |
Chr5:173234767 [GRCh38] Chr5:172661770 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.705G>C (p.Ala235=) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000936287] |
Chr5:173232839 [GRCh38] Chr5:172659842 [GRCh37] Chr5:5q35.1 |
likely benign |
NM_004387.4(NKX2-5):c.637C>G (p.Pro213Ala) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV001052178] |
Chr5:173232907 [GRCh38] Chr5:172659910 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.605T>C (p.Leu202Pro) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV001208765] |
Chr5:173232939 [GRCh38] Chr5:172659942 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.116C>G (p.Ala39Gly) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV001203285] |
Chr5:173234968 [GRCh38] Chr5:172661971 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.160_161insCTGGCCCG (p.Glu54fs) |
insertion |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV001216063] |
Chr5:173234923..173234924 [GRCh38] Chr5:172661926..172661927 [GRCh37] Chr5:5q35.1 |
pathogenic |
NM_004387.4(NKX2-5):c.673C>T (p.Arg225Cys) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV001210640] |
Chr5:173232871 [GRCh38] Chr5:172659874 [GRCh37] Chr5:5q35.1 |
uncertain significance |
GRCh37/hg19 5q34-35.2(chr5:166421173-173324843)x1 |
copy number loss |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000853560] |
Chr5:166421173..173324843 [GRCh37] Chr5:5q34-35.2 |
pathogenic |
NM_004387.4(NKX2-5):c.168C>T (p.Tyr56=) |
single nucleotide variant |
not provided [RCV000869063] |
Chr5:173234916 [GRCh38] Chr5:172661919 [GRCh37] Chr5:5q35.1 |
likely benign |
NM_004387.4(NKX2-5):c.246dup (p.Ala83fs) |
duplication |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV001222867] |
Chr5:173234837..173234838 [GRCh38] Chr5:172661840..172661841 [GRCh37] Chr5:5q35.1 |
pathogenic |
NM_004387.4(NKX2-5):c.91G>A (p.Gly31Arg) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV001208962] |
Chr5:173234993 [GRCh38] Chr5:172661996 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.387C>A (p.Asn129Lys) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV001208971] |
Chr5:173233157 [GRCh38] Chr5:172660160 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.188C>T (p.Ala63Val) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV001055047] |
Chr5:173234896 [GRCh38] Chr5:172661899 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.431T>C (p.Leu144Pro) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV001212171] |
Chr5:173233113 [GRCh38] Chr5:172660116 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.398C>A (p.Pro133His) |
single nucleotide variant |
not provided [RCV000998494] |
Chr5:173233146 [GRCh38] Chr5:172660149 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.444G>A (p.Ala148=) |
single nucleotide variant |
not provided [RCV000889443] |
Chr5:173233100 [GRCh38] Chr5:172660103 [GRCh37] Chr5:5q35.1 |
likely benign |
NM_004387.4(NKX2-5):c.87C>G (p.Ala29=) |
single nucleotide variant |
not provided [RCV000933920] |
Chr5:173234997 [GRCh38] Chr5:172662000 [GRCh37] Chr5:5q35.1 |
likely benign |
NM_004387.4(NKX2-5):c.639G>C (p.Pro213=) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV000935538] |
Chr5:173232905 [GRCh38] Chr5:172659908 [GRCh37] Chr5:5q35.1 |
likely benign |
NM_004387.4(NKX2-5):c.556_560del (p.Phe186fs) |
deletion |
not provided [RCV001008425] |
Chr5:173232984..173232988 [GRCh38] Chr5:172659987..172659991 [GRCh37] Chr5:5q35.1 |
likely pathogenic |
GRCh37/hg19 5q35.1-35.3(chr5:170805664-180719789)x3 |
copy number gain |
5q35 microduplication syndrome [RCV001263227] |
Chr5:170805664..180719789 [GRCh37] Chr5:5q35.1-35.3 |
pathogenic |
NM_004387.4(NKX2-5):c.885C>G (p.Phe295Leu) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV001066168] |
Chr5:173232659 [GRCh38] Chr5:172659662 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.709T>C (p.Tyr237His) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV001065033] |
Chr5:173232835 [GRCh38] Chr5:172659838 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.724G>A (p.Gly242Ser) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV001049998] |
Chr5:173232820 [GRCh38] Chr5:172659823 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.837C>T (p.Ser279=) |
single nucleotide variant |
not provided [RCV001091693] |
Chr5:173232707 [GRCh38] Chr5:172659710 [GRCh37] Chr5:5q35.1 |
likely benign |
NM_004387.4(NKX2-5):c.524T>C (p.Leu175Pro) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV001235147] |
Chr5:173233020 [GRCh38] Chr5:172660023 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.799G>A (p.Gly267Ser) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV001202387] |
Chr5:173232745 [GRCh38] Chr5:172659748 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.635C>G (p.Pro212Arg) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV001068644] |
Chr5:173232909 [GRCh38] Chr5:172659912 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.851C>T (p.Ala284Val) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV001037090] |
Chr5:173232693 [GRCh38] Chr5:172659696 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.842C>A (p.Ala281Glu) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV001038821] |
Chr5:173232702 [GRCh38] Chr5:172659705 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NM_004387.4(NKX2-5):c.706C>T (p.Pro236Ser) |
single nucleotide variant |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV001210751] |
Chr5:173232838 [GRCh38] Chr5:172659841 [GRCh37] Chr5:5q35.1 |
uncertain significance |
NC_000005.10:g.(?_173232549)_(173245300_?)del |
deletion |
Atrial septal defect 7 with or without atrioventricular conduction defects [RCV001032939] |
Chr5:172659552..172672303 [GRCh37] Chr5:5q35.1 |
pathogenic |
NM_004387.4(NKX2-5):c.439del (p.Gln147fs) |
deletion |
Tetralogy of Fallot [RCV001261993] |
Chr5:173233105 [GRCh38] Chr5:172660108 [GRCh37] Chr5:5q35.1 |
pathogenic |