| NM_018055.5(NODAL):c.548G>A (p.Arg183Gln) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV000008757]|not provided [RCV000081931] |
Chr10:70435629 [GRCh38]
Chr10:72195385 [GRCh37]
Chr10:10q22.1 |
pathogenic|benign|uncertain significance |
| NM_018055.5(NODAL):c.778G>A (p.Gly260Arg) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV000008758]|Inborn genetic diseases [RCV000622859]|NODAL-related disorder [RCV004528096]|Visceral heterotaxy [RCV001824117]|Wolff-Parkinson-White pattern [RCV000656169]|not provided [RCV001558244] |
Chr10:70435399 [GRCh38]
Chr10:72195155 [GRCh37]
Chr10:10q22.1 |
pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NODAL, 9-BP INS/24-BP DEL, NT700 |
indel |
Visceral heterotaxy 5, autosomal [RCV000008759] |
Chr10:10q22.1 |
pathogenic |
| NODAL, IVS2DS, G-A, +1 |
single nucleotide variant |
Situs inversus [RCV000008760]|Visceral heterotaxy 5, autosomal [RCV000008760] |
Chr10:10q22.1 |
pathogenic |
| NM_018055.5(NODAL):c.759G>A (p.Gln253=) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV002530206] |
Chr10:70435418 [GRCh38]
Chr10:72195174 [GRCh37]
Chr10:10q22.1 |
likely benign |
| GRCh38/hg38 10q22.1(chr10:70036168-70522664)x3 |
copy number gain |
See cases [RCV000051139] |
Chr10:70036168..70522664 [GRCh38]
Chr10:71795924..72282420 [GRCh37]
Chr10:71465930..71952426 [NCBI36]
Chr10:10q22.1 |
uncertain significance |
| GRCh38/hg38 10q21.2-22.2(chr10:62229688-74468143)x1 |
copy number loss |
See cases [RCV000052530] |
Chr10:62229688..74468143 [GRCh38]
Chr10:63989447..76227901 [GRCh37]
Chr10:63659453..75897907 [NCBI36]
Chr10:10q21.2-22.2 |
pathogenic |
| GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1 |
copy number loss |
See cases [RCV000052511] |
Chr10:58436466..74415216 [GRCh38]
Chr10:60196226..76174974 [GRCh37]
Chr10:59866232..75844980 [NCBI36]
Chr10:10q21.1-22.2 |
pathogenic |
| NM_018055.5(NODAL):c.193+12C>T |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV000278240]|Holoprosencephaly sequence [RCV000337591]|not provided [RCV001668206]|not specified [RCV000081929] |
Chr10:70441463 [GRCh38]
Chr10:72201219 [GRCh37]
Chr10:10q22.1 |
benign |
| NM_018055.5(NODAL):c.494A>G (p.His165Arg) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV000999799]|Holoprosencephaly sequence [RCV000348733]|NODAL-related disorder [RCV004528295]|not provided [RCV001528088]|not specified [RCV000081930] |
Chr10:70435683 [GRCh38]
Chr10:72195439 [GRCh37]
Chr10:10q22.1 |
benign |
| NM_018055.5(NODAL):c.904C>T (p.Arg302Cys) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV000650234]|Holoprosencephaly sequence [RCV001107530]|not provided [RCV000723605]|not specified [RCV000242434] |
Chr10:70433076 [GRCh38]
Chr10:72192832 [GRCh37]
Chr10:10q22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3 |
copy number gain |
See cases [RCV000134848] |
Chr10:42685306..73715908 [GRCh38]
Chr10:43180754..75475666 [GRCh37]
Chr10:42500760..75145672 [NCBI36]
Chr10:10q11.21-22.2 |
pathogenic |
| GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3 |
copy number gain |
See cases [RCV000135438] |
Chr10:67196567..79422057 [GRCh38]
Chr10:68956325..81181813 [GRCh37]
Chr10:68626331..80851819 [NCBI36]
Chr10:10q21.3-22.3 |
pathogenic |
| GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1 |
copy number loss |
See cases [RCV000136658] |
Chr10:63402579..75296099 [GRCh38]
Chr10:65162339..77055857 [GRCh37]
Chr10:64832345..76725863 [NCBI36]
Chr10:10q21.3-22.2 |
pathogenic|likely benign |
| GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3 |
copy number gain |
See cases [RCV000138007] |
Chr10:50729367..87147204 [GRCh38]
Chr10:52489127..88906961 [GRCh37]
Chr10:52159133..88896941 [NCBI36]
Chr10:10q11.23-23.2 |
pathogenic |
| NM_018055.5(NODAL):c.662G>A (p.Arg221Gln) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV002057035] |
Chr10:70435515 [GRCh38]
Chr10:72195271 [GRCh37]
Chr10:10q22.1 |
likely benign |
| NM_018055.5(NODAL):c.700_707del (p.Arg234fs) |
deletion |
Heterotaxy, visceral, 5, autosomal [RCV000754877] |
Chr10:70435470..70435477 [GRCh38]
Chr10:72195226..72195233 [GRCh37]
Chr10:10q22.1 |
likely pathogenic |
| NM_018055.5(NODAL):c.194-1G>T |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV000754878] |
Chr10:70435984 [GRCh38]
Chr10:72195740 [GRCh37]
Chr10:10q22.1 |
likely pathogenic |
| NM_018055.5(NODAL):c.891+1G>A |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV000231796]|not provided [RCV003329267] |
Chr10:70435285 [GRCh38]
Chr10:72195041 [GRCh37]
Chr10:10q22.1 |
pathogenic|likely pathogenic |
| NM_018055.5(NODAL):c.607G>A (p.Glu203Lys) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV000860530]|Holoprosencephaly sequence [RCV000324034]|not specified [RCV000250863] |
Chr10:70435570 [GRCh38]
Chr10:72195326 [GRCh37]
Chr10:10q22.1 |
benign|likely benign |
| NM_018055.5(NODAL):c.531T>C (p.Ala177=) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV000867373]|not specified [RCV000242087] |
Chr10:70435646 [GRCh38]
Chr10:72195402 [GRCh37]
Chr10:10q22.1 |
likely benign |
| NM_018055.5(NODAL):c.588C>G (p.Leu196=) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV001081193]|Holoprosencephaly sequence [RCV000384312]|not provided [RCV000755329]|not specified [RCV000247512] |
Chr10:70435589 [GRCh38]
Chr10:72195345 [GRCh37]
Chr10:10q22.1 |
benign|likely benign |
| NM_018055.5(NODAL):c.593C>A (p.Ser198Tyr) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV000284132]|Holoprosencephaly sequence [RCV000376036]|Inborn genetic diseases [RCV002522162] |
Chr10:70435584 [GRCh38]
Chr10:72195340 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.125C>T (p.Ala42Val) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV000390453]|Holoprosencephaly sequence [RCV000302530]|not provided [RCV001788192] |
Chr10:70441543 [GRCh38]
Chr10:72201299 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.*404T>C |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV000402222]|Holoprosencephaly sequence [RCV000347667] |
Chr10:70432532 [GRCh38]
Chr10:72192288 [GRCh37]
Chr10:10q22.1 |
benign|likely benign |
| NM_018055.5(NODAL):c.281G>A (p.Arg94Gln) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV000870683]|Holoprosencephaly sequence [RCV000270266]|NODAL-related disorder [RCV004537694] |
Chr10:70435896 [GRCh38]
Chr10:72195652 [GRCh37]
Chr10:10q22.1 |
likely benign|uncertain significance |
| NM_018055.5(NODAL):c.*887C>T |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV000401767]|Holoprosencephaly sequence [RCV000304331] |
Chr10:70432049 [GRCh38]
Chr10:72191805 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.280C>T (p.Arg94Trp) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV000325273]|Holoprosencephaly sequence [RCV000384350] |
Chr10:70435897 [GRCh38]
Chr10:72195653 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.550C>T (p.Pro184Ser) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV000287823]|Holoprosencephaly sequence [RCV000345169]|Inborn genetic diseases [RCV002520609] |
Chr10:70435627 [GRCh38]
Chr10:72195383 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.*356G>A |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV000370124]|Holoprosencephaly sequence [RCV000308501] |
Chr10:70432580 [GRCh38]
Chr10:72192336 [GRCh37]
Chr10:10q22.1 |
benign|likely benign |
| NM_018055.5(NODAL):c.*678G>A |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV000274701]|Holoprosencephaly sequence [RCV000318092] |
Chr10:70432258 [GRCh38]
Chr10:72192014 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.*479C>T |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV000395059]|Holoprosencephaly sequence [RCV000290925] |
Chr10:70432457 [GRCh38]
Chr10:72192213 [GRCh37]
Chr10:10q22.1 |
benign|likely benign |
| NM_018055.5(NODAL):c.*740T>C |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV000275969]|Holoprosencephaly sequence [RCV000363504] |
Chr10:70432196 [GRCh38]
Chr10:72191952 [GRCh37]
Chr10:10q22.1 |
benign |
| NM_018055.5(NODAL):c.*722G>C |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV000366778]|Holoprosencephaly sequence [RCV000333116] |
Chr10:70432214 [GRCh38]
Chr10:72191970 [GRCh37]
Chr10:10q22.1 |
benign |
| NM_018055.5(NODAL):c.*121C>A |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV000407636]|Holoprosencephaly sequence [RCV000311896] |
Chr10:70432815 [GRCh38]
Chr10:72192571 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.*62A>T |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV000262553]|Holoprosencephaly sequence [RCV000368813]|not provided [RCV001575103] |
Chr10:70432874 [GRCh38]
Chr10:72192630 [GRCh37]
Chr10:10q22.1 |
benign|likely benign |
| NM_018055.5(NODAL):c.*677C>T |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV000375842]|Holoprosencephaly sequence [RCV000279055] |
Chr10:70432259 [GRCh38]
Chr10:72192015 [GRCh37]
Chr10:10q22.1 |
likely benign|uncertain significance |
| NM_018055.5(NODAL):c.216C>T (p.Asn72=) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV000469262]|Holoprosencephaly sequence [RCV000385523]|not provided [RCV001618520] |
Chr10:70435961 [GRCh38]
Chr10:72195717 [GRCh37]
Chr10:10q22.1 |
benign|likely benign |
| NM_018055.5(NODAL):c.963G>A (p.Leu321=) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV000315801]|Holoprosencephaly sequence [RCV000354209]|NODAL-related disorder [RCV004544503] |
Chr10:70433017 [GRCh38]
Chr10:72192773 [GRCh37]
Chr10:10q22.1 |
likely benign|uncertain significance |
| NM_018055.5(NODAL):c.357C>T (p.Pro119=) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV000459943]|Holoprosencephaly sequence [RCV000264437] |
Chr10:70435820 [GRCh38]
Chr10:72195576 [GRCh37]
Chr10:10q22.1 |
benign|likely benign |
| NM_018055.5(NODAL):c.417C>T (p.Val139=) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV000356936]|Holoprosencephaly sequence [RCV000299703] |
Chr10:70435760 [GRCh38]
Chr10:72195516 [GRCh37]
Chr10:10q22.1 |
likely benign|uncertain significance |
| NM_018055.5(NODAL):c.393G>C (p.Arg131=) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV000399851]|Holoprosencephaly sequence [RCV000299723] |
Chr10:70435784 [GRCh38]
Chr10:72195540 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.*886G>A |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV000401572]|Holoprosencephaly sequence [RCV000342830] |
Chr10:70432050 [GRCh38]
Chr10:72191806 [GRCh37]
Chr10:10q22.1 |
benign|likely benign |
| NM_018055.5(NODAL):c.-9C>T |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV000343377]|Holoprosencephaly sequence [RCV000399976] |
Chr10:70441676 [GRCh38]
Chr10:72201432 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.221C>T (p.Thr74Met) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV000271207]|Holoprosencephaly sequence [RCV000330986] |
Chr10:70435956 [GRCh38]
Chr10:72195712 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.*747dup |
duplication |
Holoprosencephaly sequence [RCV000306394]|Visceral heterotaxy [RCV000272395] |
Chr10:70432188..70432189 [GRCh38]
Chr10:72191944..72191945 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.895C>A (p.Leu299Met) |
single nucleotide variant |
not provided [RCV003159513] |
Chr10:70433085 [GRCh38]
Chr10:72192841 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.*836G>C |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV000302995]|Holoprosencephaly sequence [RCV000364757] |
Chr10:70432100 [GRCh38]
Chr10:72191856 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.*676C>T |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV000317668]|Holoprosencephaly sequence [RCV000379278] |
Chr10:70432260 [GRCh38]
Chr10:72192016 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.296del (p.Ser99fs) |
deletion |
NODAL-related disorder [RCV000305471] |
Chr10:70435881 [GRCh38]
Chr10:72195637 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.203T>C (p.Val68Ala) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV000372771]|Holoprosencephaly sequence [RCV000350811] |
Chr10:70435974 [GRCh38]
Chr10:72195730 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.514C>G (p.Gln172Glu) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV000296040]|Holoprosencephaly sequence [RCV000396599] |
Chr10:70435663 [GRCh38]
Chr10:72195419 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.*480G>A |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV000339972]|Holoprosencephaly sequence [RCV000287323] |
Chr10:70432456 [GRCh38]
Chr10:72192212 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 |
copy number gain |
See cases [RCV000448750] |
Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3 |
pathogenic |
| NM_018055.5(NODAL):c.658T>C (p.Trp220Arg) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV000464032]|Inborn genetic diseases [RCV002523310] |
Chr10:70435519 [GRCh38]
Chr10:72195275 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.824G>A (p.Arg275His) |
single nucleotide variant |
Visceral heterotaxy [RCV001824138]|not provided [RCV000485605] |
Chr10:70435353 [GRCh38]
Chr10:72195109 [GRCh37]
Chr10:10q22.1 |
likely pathogenic |
| NM_018055.5(NODAL):c.742C>T (p.Arg248Trp) |
single nucleotide variant |
not provided [RCV000482914] |
Chr10:70435435 [GRCh38]
Chr10:72195191 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) |
copy number gain |
See cases [RCV000511389] |
Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3 |
pathogenic|uncertain significance |
| GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 |
copy number gain |
See cases [RCV000510861] |
Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3 |
pathogenic |
| NM_018055.5(NODAL):c.9C>T (p.Ala3=) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV001449109]|not provided [RCV003311842] |
Chr10:70441659 [GRCh38]
Chr10:72201415 [GRCh37]
Chr10:10q22.1 |
likely benign |
| NM_018055.5(NODAL):c.391C>T (p.Arg131Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV003240845] |
Chr10:70435786 [GRCh38]
Chr10:72195542 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.870G>T (p.Pro290=) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV000558327] |
Chr10:70435307 [GRCh38]
Chr10:72195063 [GRCh37]
Chr10:10q22.1 |
likely benign |
| GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 |
copy number loss |
Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] |
Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3 |
drug response |
| GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3 |
copy number gain |
not provided [RCV000683289] |
Chr10:69040366..93194993 [GRCh37]
Chr10:10q21.3-23.32 |
pathogenic |
| NM_018055.5(NODAL):c.673G>A (p.Gly225Arg) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV000687327] |
Chr10:70435504 [GRCh38]
Chr10:72195260 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NC_000010.10:g.(?_72179670)_(72360658_?)dup |
duplication |
Visceral heterotaxy 5, autosomal [RCV000707791] |
Chr10:70419914..70600902 [GRCh38]
Chr10:72179670..72360658 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.891+2T>A |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV000692352] |
Chr10:70435284 [GRCh38]
Chr10:72195040 [GRCh37]
Chr10:10q22.1 |
likely pathogenic|uncertain significance |
| NM_018055.5(NODAL):c.892-265del |
deletion |
not provided [RCV001566518] |
Chr10:70433353 [GRCh38]
Chr10:72193109 [GRCh37]
Chr10:10q22.1 |
likely benign |
| GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 |
copy number gain |
not provided [RCV000749464] |
Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3 |
pathogenic |
| GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 |
copy number gain |
not provided [RCV000749465] |
Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3 |
pathogenic |
| NM_018055.5(NODAL):c.397C>T (p.Gln133Ter) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV000754879] |
Chr10:70435780 [GRCh38]
Chr10:72195536 [GRCh37]
Chr10:10q22.1 |
pathogenic|uncertain significance |
| NM_018055.5(NODAL):c.355C>T (p.Pro119Ser) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV001053150] |
Chr10:70435822 [GRCh38]
Chr10:72195578 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.561G>A (p.Pro187=) |
single nucleotide variant |
not provided [RCV000973880] |
Chr10:70435616 [GRCh38]
Chr10:72195372 [GRCh37]
Chr10:10q22.1 |
likely benign |
| NM_018055.5(NODAL):c.518T>C (p.Met173Thr) |
single nucleotide variant |
not provided [RCV000864621] |
Chr10:70435659 [GRCh38]
Chr10:72195415 [GRCh37]
Chr10:10q22.1 |
benign |
| NM_018055.5(NODAL):c.945A>G (p.Pro315=) |
single nucleotide variant |
NODAL-related disorder [RCV004538249]|not provided [RCV000867124] |
Chr10:70433035 [GRCh38]
Chr10:72192791 [GRCh37]
Chr10:10q22.1 |
likely benign |
| NM_018055.5(NODAL):c.972G>A (p.Leu324=) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV000864366]|Holoprosencephaly sequence [RCV001107529] |
Chr10:70433008 [GRCh38]
Chr10:72192764 [GRCh37]
Chr10:10q22.1 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_018055.5(NODAL):c.661C>T (p.Arg221Trp) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV001043515]|Inborn genetic diseases [RCV003243419] |
Chr10:70435516 [GRCh38]
Chr10:72195272 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.1020C>T (p.Ile340=) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV003509618] |
Chr10:70432960 [GRCh38]
Chr10:72192716 [GRCh37]
Chr10:10q22.1 |
likely benign |
| NM_018055.5(NODAL):c.473C>T (p.Pro158Leu) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV001441677] |
Chr10:70435704 [GRCh38]
Chr10:72195460 [GRCh37]
Chr10:10q22.1 |
likely benign |
| NM_018055.5(NODAL):c.916C>T (p.His306Tyr) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV000863652]|NODAL-related disorder [RCV004538206] |
Chr10:70433064 [GRCh38]
Chr10:72192820 [GRCh37]
Chr10:10q22.1 |
likely benign |
| NM_018055.5(NODAL):c.446del (p.Gly149fs) |
deletion |
Heterotaxy, visceral, 5, autosomal [RCV000821532] |
Chr10:70435731 [GRCh38]
Chr10:72195487 [GRCh37]
Chr10:10q22.1 |
pathogenic |
| NM_018055.5(NODAL):c.661C>A (p.Arg221=) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV000872775] |
Chr10:70435516 [GRCh38]
Chr10:72195272 [GRCh37]
Chr10:10q22.1 |
likely benign |
| NM_018055.5(NODAL):c.924C>T (p.Val308=) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV000863937] |
Chr10:70433056 [GRCh38]
Chr10:72192812 [GRCh37]
Chr10:10q22.1 |
likely benign |
| NM_018055.5(NODAL):c.679C>G (p.Leu227Val) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV000817805] |
Chr10:70435498 [GRCh38]
Chr10:72195254 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.36C>T (p.Ala12=) |
single nucleotide variant |
not provided [RCV000870357] |
Chr10:70441632 [GRCh38]
Chr10:72201388 [GRCh37]
Chr10:10q22.1 |
likely benign |
| NM_018055.5(NODAL):c.107C>G (p.Ser36Trp) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV001218076] |
Chr10:70441561 [GRCh38]
Chr10:72201317 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.*829T>G |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV001106786]|Holoprosencephaly sequence [RCV001106785] |
Chr10:70432107 [GRCh38]
Chr10:72191863 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.*328G>A |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV001106857]|Holoprosencephaly sequence [RCV001106856] |
Chr10:70432608 [GRCh38]
Chr10:72192364 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.670G>A (p.Glu224Lys) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV001103914]|Holoprosencephaly sequence [RCV001103913] |
Chr10:70435507 [GRCh38]
Chr10:72195263 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.555C>A (p.Pro185=) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV001104192]|Holoprosencephaly sequence [RCV001104193] |
Chr10:70435622 [GRCh38]
Chr10:72195378 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.*729A>G |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV001107420]|Holoprosencephaly sequence [RCV001107421] |
Chr10:70432207 [GRCh38]
Chr10:72191963 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.*360A>G |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV001105739]|Holoprosencephaly sequence [RCV001105738] |
Chr10:70432576 [GRCh38]
Chr10:72192332 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_001329906.2(NODAL):c.-206-5793T>C |
single nucleotide variant |
not provided [RCV001639227] |
Chr10:70441776 [GRCh38]
Chr10:72201532 [GRCh37]
Chr10:10q22.1 |
benign |
| NM_018055.5(NODAL):c.586C>T (p.Leu196Phe) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV002539711]|not provided [RCV001702015] |
Chr10:70435591 [GRCh38]
Chr10:72195347 [GRCh37]
Chr10:10q22.1 |
likely benign|uncertain significance |
| NM_018055.5(NODAL):c.672G>A (p.Glu224=) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV000866883] |
Chr10:70435505 [GRCh38]
Chr10:72195261 [GRCh37]
Chr10:10q22.1 |
likely benign |
| NM_018055.5(NODAL):c.*329A>C |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV001105740]|Holoprosencephaly sequence [RCV001106855] |
Chr10:70432607 [GRCh38]
Chr10:72192363 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.*820G>C |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV001106787]|Holoprosencephaly sequence [RCV001106788] |
Chr10:70432116 [GRCh38]
Chr10:72191872 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.819C>G (p.Ala273=) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV001103910]|Holoprosencephaly sequence [RCV001107531] |
Chr10:70435358 [GRCh38]
Chr10:72195114 [GRCh37]
Chr10:10q22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_018055.5(NODAL):c.702G>A (p.Arg234=) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV001103912]|Holoprosencephaly sequence [RCV001103911] |
Chr10:70435475 [GRCh38]
Chr10:72195231 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.1033G>A (p.Gly345Arg) |
single nucleotide variant |
not provided [RCV002467231] |
Chr10:70432947 [GRCh38]
Chr10:72192703 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.158_165del (p.Pro53fs) |
deletion |
Heterotaxy, visceral, 5, autosomal [RCV004594649] |
Chr10:70441503..70441510 [GRCh38]
Chr10:72201259..72201266 [GRCh37]
Chr10:10q22.1 |
likely pathogenic |
| NM_018055.5(NODAL):c.986G>A (p.Gly329Asp) |
single nucleotide variant |
not provided [RCV001723413] |
Chr10:70432994 [GRCh38]
Chr10:72192750 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.555dup (p.Thr186fs) |
duplication |
Congenitally corrected transposition of the great arteries [RCV001007638] |
Chr10:70435621..70435622 [GRCh38]
Chr10:72195377..72195378 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.512A>T (p.Lys171Met) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV001106970]|Holoprosencephaly sequence [RCV001106969] |
Chr10:70435665 [GRCh38]
Chr10:72195421 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.1021G>A (p.Val341Met) |
single nucleotide variant |
not provided [RCV001703391] |
Chr10:70432959 [GRCh38]
Chr10:72192715 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.194-105A>C |
single nucleotide variant |
not provided [RCV001690515] |
Chr10:70436088 [GRCh38]
Chr10:72195844 [GRCh37]
Chr10:10q22.1 |
benign |
| NM_018055.5(NODAL):c.193+260G>T |
single nucleotide variant |
not provided [RCV001613581] |
Chr10:70441215 [GRCh38]
Chr10:72200971 [GRCh37]
Chr10:10q22.1 |
benign |
| NM_018055.5(NODAL):c.347A>T (p.Gln116Leu) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV001065826] |
Chr10:70435830 [GRCh38]
Chr10:72195586 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.254A>G (p.Gln85Arg) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV001036114] |
Chr10:70435923 [GRCh38]
Chr10:72195679 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.*125A>C |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV001106858]|Holoprosencephaly sequence [RCV001106859] |
Chr10:70432811 [GRCh38]
Chr10:72192567 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.467C>T (p.Thr156Ile) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV001106971]|Holoprosencephaly sequence [RCV001107628] |
Chr10:70435710 [GRCh38]
Chr10:72195466 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.823C>T (p.Arg275Cys) |
single nucleotide variant |
Heart, malformation of [RCV001257381] |
Chr10:70435354 [GRCh38]
Chr10:72195110 [GRCh37]
Chr10:10q22.1 |
pathogenic |
| NM_018055.5(NODAL):c.169ATC[1] (p.Ile58del) |
microsatellite |
Heart, malformation of [RCV001257382] |
Chr10:70441494..70441496 [GRCh38]
Chr10:72201250..72201252 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.959C>T (p.Pro320Leu) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV001993675]|not provided [RCV004571850] |
Chr10:70433021 [GRCh38]
Chr10:72192777 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.591C>A (p.Tyr197Ter) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV001267676] |
Chr10:70435586 [GRCh38]
Chr10:72195342 [GRCh37]
Chr10:10q22.1 |
pathogenic |
| NM_018055.5(NODAL):c.817G>A (p.Ala273Thr) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV001312616] |
Chr10:70435360 [GRCh38]
Chr10:72195116 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NC_000010.10:g.(?_72179670)_(72360658_?)dup |
duplication |
Familial hemophagocytic lymphohistiocytosis 2 [RCV001322541]|Heterotaxy, visceral, 5, autosomal [RCV000707791] |
Chr10:72179670..72360658 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.926C>T (p.Pro309Leu) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV001329038] |
Chr10:70433054 [GRCh38]
Chr10:72192810 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.53A>G (p.Gln18Arg) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV001308344] |
Chr10:70441615 [GRCh38]
Chr10:72201371 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.892-265A>T |
single nucleotide variant |
not provided [RCV001609406] |
Chr10:70433353 [GRCh38]
Chr10:72193109 [GRCh37]
Chr10:10q22.1 |
benign |
| NM_018055.5(NODAL):c.816C>T (p.Asn272=) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV001512544] |
Chr10:70435361 [GRCh38]
Chr10:72195117 [GRCh37]
Chr10:10q22.1 |
benign |
| NM_018055.5(NODAL):c.545C>T (p.Pro182Leu) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV001470498] |
Chr10:70435632 [GRCh38]
Chr10:72195388 [GRCh37]
Chr10:10q22.1 |
likely benign |
| NM_018055.5(NODAL):c.555del (p.Thr186fs) |
deletion |
Heterotaxy, visceral, 5, autosomal [RCV001381991] |
Chr10:70435622 [GRCh38]
Chr10:72195378 [GRCh37]
Chr10:10q22.1 |
pathogenic |
| NM_018055.5(NODAL):c.892-1G>C |
single nucleotide variant |
not provided [RCV001756561] |
Chr10:70433089 [GRCh38]
Chr10:72192845 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.778G>C (p.Gly260Arg) |
single nucleotide variant |
not provided [RCV001774566] |
Chr10:70435399 [GRCh38]
Chr10:72195155 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.285G>C (p.Leu95=) |
single nucleotide variant |
not provided [RCV001815706] |
Chr10:70435892 [GRCh38]
Chr10:72195648 [GRCh37]
Chr10:10q22.1 |
likely benign |
| GRCh37/hg19 10q21.3-22.3(chr10:68735254-78885714) |
copy number loss |
not specified [RCV002052875] |
Chr10:68735254..78885714 [GRCh37]
Chr10:10q21.3-22.3 |
pathogenic |
| NM_018055.5(NODAL):c.419C>T (p.Thr140Ile) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV001993979] |
Chr10:70435758 [GRCh38]
Chr10:72195514 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| GRCh37/hg19 10q22.1(chr10:71754361-72399690)x3 |
copy number gain |
not provided [RCV001832950] |
Chr10:71754361..72399690 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.869C>T (p.Pro290Leu) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV001954790] |
Chr10:70435308 [GRCh38]
Chr10:72195064 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NC_000010.10:g.(?_72183370)_(72201347_?)del |
deletion |
Heterotaxy, visceral, 5, autosomal [RCV001951375] |
Chr10:72183370..72201347 [GRCh37]
Chr10:10q22.1 |
pathogenic |
| NM_018055.5(NODAL):c.211C>A (p.Gln71Lys) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV001955116] |
Chr10:70435966 [GRCh38]
Chr10:72195722 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.700_723delinsTTGACTTCC (p.Arg234_Pro241delinsLeuThrSer) |
indel |
Heterotaxy, visceral, 5, autosomal [RCV002291319]|NODAL-related disorder [RCV004529103]|not provided [RCV002224592] |
Chr10:70435454..70435477 [GRCh38]
Chr10:72195210..72195233 [GRCh37]
Chr10:10q22.1 |
pathogenic|likely pathogenic|uncertain significance |
| NM_018055.5(NODAL):c.186G>A (p.Gln62=) |
single nucleotide variant |
not provided [RCV002285770] |
Chr10:70441482 [GRCh38]
Chr10:72201238 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.188C>A (p.Ala63Glu) |
single nucleotide variant |
Situs inversus [RCV002472051] |
Chr10:70441480 [GRCh38]
Chr10:72201236 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.914C>T (p.Pro305Leu) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV002298972] |
Chr10:70433066 [GRCh38]
Chr10:72192822 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.547C>T (p.Arg183Trp) |
single nucleotide variant |
Inborn genetic diseases [RCV002854089] |
Chr10:70435630 [GRCh38]
Chr10:72195386 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.143A>G (p.Tyr48Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002827976] |
Chr10:70441525 [GRCh38]
Chr10:72201281 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.401T>A (p.Met134Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002742683] |
Chr10:70435776 [GRCh38]
Chr10:72195532 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.891+19G>C |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV002928588] |
Chr10:70435267 [GRCh38]
Chr10:72195023 [GRCh37]
Chr10:10q22.1 |
likely benign |
| NM_018055.5(NODAL):c.835G>A (p.Glu279Lys) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV002581846]|NODAL-related disorder [RCV004540559] |
Chr10:70435342 [GRCh38]
Chr10:72195098 [GRCh37]
Chr10:10q22.1 |
likely benign|uncertain significance |
| NM_018055.5(NODAL):c.130A>C (p.Met44Leu) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV003009242] |
Chr10:70441538 [GRCh38]
Chr10:72201294 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.103C>T (p.Pro35Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002813796] |
Chr10:70441565 [GRCh38]
Chr10:72201321 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.1012G>C (p.Asp338His) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV002942084] |
Chr10:70432968 [GRCh38]
Chr10:72192724 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.68C>T (p.Thr23Met) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV002646727] |
Chr10:70441600 [GRCh38]
Chr10:72201356 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.870G>A (p.Pro290=) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV002646758] |
Chr10:70435307 [GRCh38]
Chr10:72195063 [GRCh37]
Chr10:10q22.1 |
likely benign |
| NM_018055.5(NODAL):c.602C>T (p.Ser201Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002808368] |
Chr10:70435575 [GRCh38]
Chr10:72195331 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.140T>C (p.Leu47Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002808637] |
Chr10:70441528 [GRCh38]
Chr10:72201284 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.222G>A (p.Thr74=) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV002635362]|NODAL-related disorder [RCV004534150] |
Chr10:70435955 [GRCh38]
Chr10:72195711 [GRCh37]
Chr10:10q22.1 |
likely benign |
| NM_018055.5(NODAL):c.93G>A (p.Thr31=) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV002633163] |
Chr10:70441575 [GRCh38]
Chr10:72201331 [GRCh37]
Chr10:10q22.1 |
likely benign |
| NM_018055.5(NODAL):c.291G>T (p.Leu97=) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV002582939] |
Chr10:70435886 [GRCh38]
Chr10:72195642 [GRCh37]
Chr10:10q22.1 |
likely benign |
| NM_018055.5(NODAL):c.2T>C (p.Met1Thr) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV003148537] |
Chr10:70441666 [GRCh38]
Chr10:72201422 [GRCh37]
Chr10:10q22.1 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_018055.5(NODAL):c.404A>G (p.Asp135Gly) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV003131815] |
Chr10:70435773 [GRCh38]
Chr10:72195529 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) |
copy number loss |
Distal 10q deletion syndrome [RCV003319583] |
Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3 |
pathogenic |
| GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) |
copy number gain |
Distal trisomy 10q [RCV003319593] |
Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3 |
pathogenic |
| NM_018055.5(NODAL):c.1021G>T (p.Val341Leu) |
single nucleotide variant |
congenital heart defects [RCV003328104] |
Chr10:70432959 [GRCh38]
Chr10:72192715 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.253C>T (p.Gln85Ter) |
single nucleotide variant |
NODAL-related disorder [RCV003335895] |
Chr10:70435924 [GRCh38]
Chr10:72195680 [GRCh37]
Chr10:10q22.1 |
likely pathogenic |
| GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3 |
copy number gain |
not provided [RCV003484798] |
Chr10:42709645..100834951 [GRCh37]
Chr10:10q11.21-24.2 |
pathogenic |
| NM_018055.5(NODAL):c.329C>T (p.Ala110Val) |
single nucleotide variant |
NODAL-related disorder [RCV004528630] |
Chr10:70435848 [GRCh38]
Chr10:72195604 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.1039C>T (p.Leu347Phe) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV003510607] |
Chr10:70432941 [GRCh38]
Chr10:72192697 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.272C>A (p.Ala91Asp) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV003510000] |
Chr10:70435905 [GRCh38]
Chr10:72195661 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.193+4G>A |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV003510872] |
Chr10:70441471 [GRCh38]
Chr10:72201227 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.361A>T (p.Thr121Ser) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV003509096] |
Chr10:70435816 [GRCh38]
Chr10:72195572 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.152C>T (p.Pro51Leu) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV003619362] |
Chr10:70441516 [GRCh38]
Chr10:72201272 [GRCh37]
Chr10:10q22.1 |
likely benign |
| NM_018055.5(NODAL):c.474T>A (p.Pro158=) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV003819135] |
Chr10:70435703 [GRCh38]
Chr10:72195459 [GRCh37]
Chr10:10q22.1 |
likely benign |
| NM_018055.5(NODAL):c.406C>T (p.Leu136=) |
single nucleotide variant |
Heterotaxy, visceral, 5, autosomal [RCV003845854] |
Chr10:70435771 [GRCh38]
Chr10:72195527 [GRCh37]
Chr10:10q22.1 |
likely benign |
| NM_018055.5(NODAL):c.502G>T (p.Ala168Ser) |
single nucleotide variant |
NODAL-related disorder [RCV004542617] |
Chr10:70435675 [GRCh38]
Chr10:72195431 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.301G>A (p.Val101Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004487891] |
Chr10:70435876 [GRCh38]
Chr10:72195632 [GRCh37]
Chr10:10q22.1 |
uncertain significance |
| NM_018055.5(NODAL):c.735del (p.Gln245fs) |
deletion |
Heterotaxy, visceral, 5, autosomal [RCV004595206] |
Chr10:70435442 [GRCh38]
Chr10:72195198 [GRCh37]
Chr10:10q22.1 |
likely pathogenic |
