| NM_001106.4(ACVR2B):c.119G>A (p.Arg40His) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000007261]|not provided [RCV004710441]|not specified [RCV000243624] |
Chr3:38477353 [GRCh38]
Chr3:38518844 [GRCh37]
Chr3:3p22.2 |
pathogenic|benign|likely benign |
| NM_001106.4(ACVR2B):c.1480G>A (p.Val494Ile) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000007262]|not provided [RCV004691718] |
Chr3:38483273 [GRCh38]
Chr3:38524764 [GRCh37]
Chr3:3p22.2 |
pathogenic|uncertain significance |
| GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3 |
copy number gain |
See cases [RCV000051720] |
Chr3:11463328..38919543 [GRCh38]
Chr3:11504802..38961034 [GRCh37]
Chr3:11479802..38936038 [NCBI36]
Chr3:3p25.3-22.2 |
pathogenic |
| NM_001106.4(ACVR2B):c.1075-5C>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000457393]|not provided [RCV001573737]|not specified [RCV000123527] |
Chr3:38482193 [GRCh38]
Chr3:38523684 [GRCh37]
Chr3:3p22.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001106.4(ACVR2B):c.1344+7G>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000471755]|not provided [RCV004707994]|not specified [RCV000123528] |
Chr3:38482567 [GRCh38]
Chr3:38524058 [GRCh37]
Chr3:3p22.2 |
benign|likely benign |
| GRCh38/hg38 3p22.3-22.1(chr3:33728406-40662451)x3 |
copy number gain |
See cases [RCV000134924] |
Chr3:33728406..40662451 [GRCh38]
Chr3:33769898..40703942 [GRCh37]
Chr3:33744902..40678946 [NCBI36]
Chr3:3p22.3-22.1 |
pathogenic |
| GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3 |
copy number gain |
See cases [RCV000141810] |
Chr3:53308..41381521 [GRCh38]
Chr3:94991..41423012 [GRCh37]
Chr3:69991..41398016 [NCBI36]
Chr3:3p26.3-22.1 |
pathogenic |
| NM_001106.4(ACVR2B):c.*2042C>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000260417] |
Chr3:38485374 [GRCh38]
Chr3:38526865 [GRCh37]
Chr3:3p22.2 |
benign|likely benign |
| NM_001106.4(ACVR2B):c.*9731C>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000264673] |
Chr3:38493063 [GRCh38]
Chr3:38534554 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*2900T>C |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000263048]|not provided [RCV004708751] |
Chr3:38486232 [GRCh38]
Chr3:38527723 [GRCh37]
Chr3:3p22.2 |
benign|likely benign |
| NM_001106.4(ACVR2B):c.*6948G>A |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000259867]|not provided [RCV004708757] |
Chr3:38490280 [GRCh38]
Chr3:38531771 [GRCh37]
Chr3:3p22.2 |
benign|likely benign |
| NM_001106.4(ACVR2B):c.993C>T (p.Ser331=) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000227436]|not provided [RCV001668393]|not specified [RCV000254491] |
Chr3:38481384 [GRCh38]
Chr3:38522875 [GRCh37]
Chr3:3p22.2 |
benign |
| NM_001106.4(ACVR2B):c.666+5G>A |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000233597]|not provided [RCV001658054]|not specified [RCV000249203] |
Chr3:38478523 [GRCh38]
Chr3:38520014 [GRCh37]
Chr3:3p22.2 |
benign |
| NM_001106.4(ACVR2B):c.960-19T>C |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV002057445]|not specified [RCV000250916] |
Chr3:38481332 [GRCh38]
Chr3:38522823 [GRCh37]
Chr3:3p22.2 |
likely benign |
| NM_001106.4(ACVR2B):c.*1376G>A |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000286219] |
Chr3:38484708 [GRCh38]
Chr3:38526199 [GRCh37]
Chr3:3p22.2 |
benign|likely benign |
| NM_001106.4(ACVR2B):c.*911C>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000279009]|not provided [RCV004708748] |
Chr3:38484243 [GRCh38]
Chr3:38484243..38484244 [GRCh38]
Chr3:38525734 [GRCh37]
Chr3:38525734..38525735 [GRCh37]
Chr3:3p22.2 |
benign |
| NM_001106.4(ACVR2B):c.*5469A>G |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000279350] |
Chr3:38488801 [GRCh38]
Chr3:38530292 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*7959G>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000282813] |
Chr3:38491291 [GRCh38]
Chr3:38532782 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*5700A>C |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000282919] |
Chr3:38489032 [GRCh38]
Chr3:38530523 [GRCh37]
Chr3:3p22.2 |
benign|likely benign |
| NM_001106.4(ACVR2B):c.*2280A>G |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000282976]|not provided [RCV004708750] |
Chr3:38485612 [GRCh38]
Chr3:38527103 [GRCh37]
Chr3:3p22.2 |
benign|likely benign |
| GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3 |
copy number gain |
See cases [RCV000240519] |
Chr3:37028313..49929220 [GRCh37]
Chr3:3p22.2-21.31 |
likely pathogenic |
| NM_001106.4(ACVR2B):c.811-13T>C |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000612436]|not provided [RCV001711673]|not specified [RCV000246193] |
Chr3:38479665 [GRCh38]
Chr3:38521156 [GRCh37]
Chr3:3p22.2 |
benign |
| NM_001106.4(ACVR2B):c.1458C>T (p.Asn486=) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000599847]|not provided [RCV001668462]|not specified [RCV000253566] |
Chr3:38483251 [GRCh38]
Chr3:38524742 [GRCh37]
Chr3:3p22.2 |
benign |
| NM_001106.4(ACVR2B):c.333A>G (p.Glu111=) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000605111]|not provided [RCV001618405]|not specified [RCV000244045] |
Chr3:38477933 [GRCh38]
Chr3:38477933..38477934 [GRCh38]
Chr3:38519424 [GRCh37]
Chr3:38519424..38519425 [GRCh37]
Chr3:3p22.2 |
benign |
| NM_001106.4(ACVR2B):c.811-12G>A |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000624993]|not provided [RCV004710634]|not specified [RCV000253984] |
Chr3:38479666 [GRCh38]
Chr3:38521157 [GRCh37]
Chr3:3p22.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_001106.4(ACVR2B):c.*3334G>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000269828] |
Chr3:38486666 [GRCh38]
Chr3:38528157 [GRCh37]
Chr3:3p22.2 |
benign|likely benign |
| NM_001106.4(ACVR2B):c.*9469C>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000268328] |
Chr3:38492801 [GRCh38]
Chr3:38534292 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*501G>C |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000270069]|not provided [RCV004708745] |
Chr3:38483833 [GRCh38]
Chr3:38525324 [GRCh37]
Chr3:3p22.2 |
benign|likely benign |
| NM_001106.4(ACVR2B):c.*420A>G |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000266388] |
Chr3:38483752 [GRCh38]
Chr3:38525243 [GRCh37]
Chr3:3p22.2 |
benign|likely benign |
| NM_001106.4(ACVR2B):c.*2005C>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000275797] |
Chr3:38485337 [GRCh38]
Chr3:38526828 [GRCh37]
Chr3:3p22.2 |
benign|likely benign |
| NM_001106.4(ACVR2B):c.*4995C>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000272155]|not provided [RCV004708754] |
Chr3:38488327 [GRCh38]
Chr3:38529818 [GRCh37]
Chr3:3p22.2 |
benign |
| NM_001106.4(ACVR2B):c.*3127G>A |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000266744] |
Chr3:38486459 [GRCh38]
Chr3:38527950 [GRCh37]
Chr3:3p22.2 |
benign|likely benign |
| NM_001106.4(ACVR2B):c.*744T>C |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000332856]|not provided [RCV004708746] |
Chr3:38484076 [GRCh38]
Chr3:38525567 [GRCh37]
Chr3:3p22.2 |
benign |
| NM_001106.4(ACVR2B):c.*5201T>C |
single nucleotide variant |
Visceral heterotaxy [RCV000332955] |
Chr3:38488533 [GRCh38]
Chr3:38530024 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*2025G>C |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000333194] |
Chr3:38485357 [GRCh38]
Chr3:38526848 [GRCh37]
Chr3:3p22.2 |
likely benign |
| NM_001106.4(ACVR2B):c.*87A>G |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000352155] |
Chr3:38483419 [GRCh38]
Chr3:38524910 [GRCh37]
Chr3:3p22.2 |
benign|likely benign |
| NM_001106.4(ACVR2B):c.*1042G>A |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000374737] |
Chr3:38484374 [GRCh38]
Chr3:38525865 [GRCh37]
Chr3:3p22.2 |
benign|likely benign |
| NM_001106.4(ACVR2B):c.*5587T>A |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000374928] |
Chr3:38488919 [GRCh38]
Chr3:38530410 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*6553G>A |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000299907] |
Chr3:38489885 [GRCh38]
Chr3:38531376 [GRCh37]
Chr3:3p22.2 |
benign|likely benign |
| NM_001106.4(ACVR2B):c.*8439T>C |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000353161] |
Chr3:38491771 [GRCh38]
Chr3:38533262 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.260+7C>G |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000353164] |
Chr3:38477501 [GRCh38]
Chr3:38518992 [GRCh37]
Chr3:3p22.2 |
likely benign|uncertain significance |
| NM_001106.4(ACVR2B):c.*2154A>C |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000375139] |
Chr3:38485486 [GRCh38]
Chr3:38526977 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*9318dup |
duplication |
Visceral heterotaxy [RCV000376022] |
Chr3:38492642..38492643 [GRCh38]
Chr3:38534133..38534134 [GRCh37]
Chr3:3p22.2 |
benign |
| NM_001106.4(ACVR2B):c.*133A>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000398315]|not provided [RCV004708743] |
Chr3:38483465 [GRCh38]
Chr3:38524956 [GRCh37]
Chr3:3p22.2 |
benign|likely benign |
| NM_001106.4(ACVR2B):c.*4218A>G |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000398412] |
Chr3:38487550 [GRCh38]
Chr3:38529041 [GRCh37]
Chr3:3p22.2 |
benign|likely benign |
| NM_001106.4(ACVR2B):c.*6638C>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000354623] |
Chr3:38489970 [GRCh38]
Chr3:38531461 [GRCh37]
Chr3:3p22.2 |
benign|likely benign |
| NM_001106.4(ACVR2B):c.*1041A>C |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000317772]|not provided [RCV004708749] |
Chr3:38484373 [GRCh38]
Chr3:38525864 [GRCh37]
Chr3:3p22.2 |
benign |
| NM_001106.4(ACVR2B):c.*5569C>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000336616] |
Chr3:38488901 [GRCh38]
Chr3:38530392 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*9084T>G |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000379422] |
Chr3:38492416 [GRCh38]
Chr3:38533907 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*8187G>A |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000400791] |
Chr3:38491519 [GRCh38]
Chr3:38533010 [GRCh37]
Chr3:3p22.2 |
benign|likely benign |
| NM_001106.4(ACVR2B):c.*1375C>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000401594] |
Chr3:38484707 [GRCh38]
Chr3:38526198 [GRCh37]
Chr3:3p22.2 |
benign|likely benign |
| NM_001106.4(ACVR2B):c.*2071G>A |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000318165] |
Chr3:38485403 [GRCh38]
Chr3:38526894 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*204C>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000336893]|not provided [RCV004708744] |
Chr3:38483536 [GRCh38]
Chr3:38525027 [GRCh37]
Chr3:3p22.2 |
benign|likely benign |
| NM_001106.4(ACVR2B):c.*8141C>A |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000337965] |
Chr3:38491473 [GRCh38]
Chr3:38532964 [GRCh37]
Chr3:3p22.2 |
benign|likely benign |
| NM_001106.4(ACVR2B):c.*3316G>A |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000380773] |
Chr3:38486648 [GRCh38]
Chr3:38528139 [GRCh37]
Chr3:3p22.2 |
benign|likely benign |
| NM_001106.4(ACVR2B):c.*7719del |
deletion |
Visceral heterotaxy [RCV000402369] |
Chr3:38491049 [GRCh38]
Chr3:38532540 [GRCh37]
Chr3:3p22.2 |
likely benign |
| NM_001106.4(ACVR2B):c.*9319T>A |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000402250]|not provided [RCV004708759] |
Chr3:38492651 [GRCh38]
Chr3:38534142 [GRCh37]
Chr3:3p22.2 |
benign |
| NM_001106.4(ACVR2B):c.*6388T>G |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000303494]|not provided [RCV004708756] |
Chr3:38489720 [GRCh38]
Chr3:38531211 [GRCh37]
Chr3:3p22.2 |
benign |
| NM_001106.4(ACVR2B):c.*9737C>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000319822] |
Chr3:38493069 [GRCh38]
Chr3:38534560 [GRCh37]
Chr3:3p22.2 |
likely benign|uncertain significance |
| NM_001106.4(ACVR2B):c.*4423A>G |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000338460] |
Chr3:38487755 [GRCh38]
Chr3:38529246 [GRCh37]
Chr3:3p22.2 |
benign|likely benign |
| NM_001106.4(ACVR2B):c.*394G>A |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000358839] |
Chr3:38483726 [GRCh38]
Chr3:38525217 [GRCh37]
Chr3:3p22.2 |
benign|likely benign |
| NM_001106.4(ACVR2B):c.*3090C>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000359046]|not provided [RCV004708752] |
Chr3:38486422 [GRCh38]
Chr3:38527913 [GRCh37]
Chr3:3p22.2 |
benign |
| NM_001106.4(ACVR2B):c.*9584C>G |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000359445] |
Chr3:38492916 [GRCh38]
Chr3:38534407 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*9471C>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000304769] |
Chr3:38492803 [GRCh38]
Chr3:38534294 [GRCh37]
Chr3:3p22.2 |
benign|likely benign |
| NM_001106.4(ACVR2B):c.*3078C>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000320575] |
Chr3:38486410 [GRCh38]
Chr3:38527901 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*1346_*1347del |
deletion |
Visceral heterotaxy [RCV000339563] |
Chr3:38484676..38484677 [GRCh38]
Chr3:38526167..38526168 [GRCh37]
Chr3:3p22.2 |
benign |
| NM_001106.4(ACVR2B):c.*4617C>G |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000360427]|not provided [RCV004708753] |
Chr3:38487949 [GRCh38]
Chr3:38487949..38487950 [GRCh38]
Chr3:38529440 [GRCh37]
Chr3:3p22.2 |
benign |
| NM_001106.4(ACVR2B):c.*476C>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000305108] |
Chr3:38483808 [GRCh38]
Chr3:38525299 [GRCh37]
Chr3:3p22.2 |
benign|likely benign |
| NM_001106.4(ACVR2B):c.*2318C>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000321632] |
Chr3:38485650 [GRCh38]
Chr3:38527141 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*7688G>A |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000341360]|not provided [RCV004709959] |
Chr3:38491020 [GRCh38]
Chr3:38532511 [GRCh37]
Chr3:3p22.2 |
benign |
| NM_001106.4(ACVR2B):c.*483C>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000362124] |
Chr3:38483815 [GRCh38]
Chr3:38525306 [GRCh37]
Chr3:3p22.2 |
benign|uncertain significance |
| NM_001106.4(ACVR2B):c.*3570A>G |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000384375] |
Chr3:38486902 [GRCh38]
Chr3:38528393 [GRCh37]
Chr3:3p22.2 |
benign|uncertain significance |
| NM_001106.4(ACVR2B):c.*7379G>A |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000384449] |
Chr3:38490711 [GRCh38]
Chr3:38532202 [GRCh37]
Chr3:3p22.2 |
benign|likely benign |
| NM_001106.4(ACVR2B):c.1452G>A (p.Ser484=) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000648702] |
Chr3:38483245 [GRCh38]
Chr3:38524736 [GRCh37]
Chr3:3p22.2 |
benign|likely benign|uncertain significance |
| NM_001106.4(ACVR2B):c.*3714G>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000292296]|not provided [RCV004709957] |
Chr3:38487046 [GRCh38]
Chr3:38528537 [GRCh37]
Chr3:3p22.2 |
benign |
| NM_001106.4(ACVR2B):c.*5086C>G |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000386184] |
Chr3:38488418 [GRCh38]
Chr3:38529909 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.811-3C>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000324090] |
Chr3:38479675 [GRCh38]
Chr3:38521166 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*1429C>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000343527] |
Chr3:38484761 [GRCh38]
Chr3:38526252 [GRCh37]
Chr3:3p22.2 |
benign|likely benign |
| NM_001106.4(ACVR2B):c.*6157G>A |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000343891] |
Chr3:38489489 [GRCh38]
Chr3:38530980 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*8845T>C |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000363952] |
Chr3:38492177 [GRCh38]
Chr3:38533668 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*4963T>A |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000364387] |
Chr3:38488295 [GRCh38]
Chr3:38529786 [GRCh37]
Chr3:3p22.2 |
benign|likely benign |
| NM_001106.4(ACVR2B):c.*15T>C |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000387006] |
Chr3:38483347 [GRCh38]
Chr3:38524838 [GRCh37]
Chr3:3p22.2 |
benign|uncertain significance |
| NM_001106.4(ACVR2B):c.1444C>T (p.Arg482Trp) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000863682] |
Chr3:38483237 [GRCh38]
Chr3:38524728 [GRCh37]
Chr3:3p22.2 |
benign|likely benign|uncertain significance |
| NM_001106.4(ACVR2B):c.*1613C>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000365330] |
Chr3:38484945 [GRCh38]
Chr3:38526436 [GRCh37]
Chr3:3p22.2 |
likely benign|uncertain significance |
| NM_001106.4(ACVR2B):c.*7619C>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000326559] |
Chr3:38490951 [GRCh38]
Chr3:38532442 [GRCh37]
Chr3:3p22.2 |
benign|likely benign |
| NM_001106.4(ACVR2B):c.*765G>A |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000389697]|not provided [RCV004708747] |
Chr3:38484097 [GRCh38]
Chr3:38525588 [GRCh37]
Chr3:3p22.2 |
benign|likely benign |
| NM_001106.4(ACVR2B):c.*9317_*9318insT |
insertion |
Visceral heterotaxy [RCV000390460]|not provided [RCV004694741] |
Chr3:38492649..38492650 [GRCh38]
Chr3:38534140..38534141 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*592C>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000327514] |
Chr3:38483924 [GRCh38]
Chr3:38525415 [GRCh37]
Chr3:3p22.2 |
benign|likely benign |
| NM_001106.4(ACVR2B):c.*8812C>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000327921] |
Chr3:38492144 [GRCh38]
Chr3:38533635 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*1957T>G |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000368910] |
Chr3:38485289 [GRCh38]
Chr3:38526780 [GRCh37]
Chr3:3p22.2 |
benign|likely benign |
| NM_001106.4(ACVR2B):c.*1656A>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000391523]|not provided [RCV004710948] |
Chr3:38484988 [GRCh38]
Chr3:38526479 [GRCh37]
Chr3:3p22.2 |
likely benign|uncertain significance |
| NM_001106.4(ACVR2B):c.*6173A>C |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000391843] |
Chr3:38489505 [GRCh38]
Chr3:38530996 [GRCh37]
Chr3:3p22.2 |
benign|likely benign |
| NM_001106.4(ACVR2B):c.*3956A>G |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000296559] |
Chr3:38487288 [GRCh38]
Chr3:38528779 [GRCh37]
Chr3:3p22.2 |
benign|likely benign |
| NM_001106.4(ACVR2B):c.*5002C>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000329296]|not provided [RCV004709958] |
Chr3:38488334 [GRCh38]
Chr3:38529825 [GRCh37]
Chr3:3p22.2 |
benign |
| NM_001106.4(ACVR2B):c.1477C>T (p.Leu493Phe) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000704687]|not provided [RCV005425937] |
Chr3:38483270 [GRCh38]
Chr3:38524761 [GRCh37]
Chr3:3p22.2 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_001106.4(ACVR2B):c.*7179G>A |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000369556] |
Chr3:38490511 [GRCh38]
Chr3:38532002 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*2425G>A |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000370752] |
Chr3:38485757 [GRCh38]
Chr3:38527248 [GRCh37]
Chr3:3p22.2 |
benign|likely benign |
| NM_001106.4(ACVR2B):c.*8512A>C |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000392585]|not provided [RCV004708758] |
Chr3:38491844 [GRCh38]
Chr3:38533335 [GRCh37]
Chr3:3p22.2 |
benign |
| NM_001106.4(ACVR2B):c.*338C>G |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000393149] |
Chr3:38483670 [GRCh38]
Chr3:38525161 [GRCh37]
Chr3:3p22.2 |
benign|likely benign |
| NM_001106.4(ACVR2B):c.*1891G>C |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000311860] |
Chr3:38485223 [GRCh38]
Chr3:38526714 [GRCh37]
Chr3:3p22.2 |
benign|uncertain significance |
| NM_001106.4(ACVR2B):c.*7341A>G |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000330146] |
Chr3:38490673 [GRCh38]
Chr3:38532164 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*3748G>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000349683] |
Chr3:38487080 [GRCh38]
Chr3:38528571 [GRCh37]
Chr3:3p22.2 |
benign|likely benign |
| NM_001106.4(ACVR2B):c.*5256A>G |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000371549]|not provided [RCV004708755] |
Chr3:38488588 [GRCh38]
Chr3:38530079 [GRCh37]
Chr3:3p22.2 |
benign|likely benign |
| NM_001106.4(ACVR2B):c.147C>T (p.Cys49=) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000393861]|not provided [RCV003437095] |
Chr3:38477381 [GRCh38]
Chr3:38518872 [GRCh37]
Chr3:3p22.2 |
benign|likely benign |
| NM_001106.4(ACVR2B):c.210C>T (p.Ile70=) |
single nucleotide variant |
ACVR2B-related disorder [RCV003957783]|Heterotaxy, visceral, 4, autosomal [RCV000298022] |
Chr3:38477444 [GRCh38]
Chr3:38518935 [GRCh37]
Chr3:3p22.2 |
likely benign|uncertain significance |
| NM_001106.4(ACVR2B):c.*2392T>C |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000312707]|not provided [RCV004709956] |
Chr3:38485724 [GRCh38]
Chr3:38527215 [GRCh37]
Chr3:3p22.2 |
benign |
| NM_001106.4(ACVR2B):c.*8561A>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000312910] |
Chr3:38491893 [GRCh38]
Chr3:38533384 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*9317A>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000350661] |
Chr3:38492649 [GRCh38]
Chr3:38534140 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*1251C>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000282250] |
Chr3:38484583 [GRCh38]
Chr3:38526074 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*9317_*9318dup |
duplication |
Visceral heterotaxy [RCV000281548]|not provided [RCV004694740] |
Chr3:38492642..38492643 [GRCh38]
Chr3:38534133..38534134 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*9317_*9318insTAT |
insertion |
Visceral heterotaxy [RCV000296708] |
Chr3:38492649..38492650 [GRCh38]
Chr3:38534140..38534141 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*8696G>A |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000272942] |
Chr3:38492028 [GRCh38]
Chr3:38533519 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*696G>A |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000273576] |
Chr3:38484028 [GRCh38]
Chr3:38525519 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.283G>C (p.Glu95Gln) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000262997] |
Chr3:38477883 [GRCh38]
Chr3:38519374 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*7227C>A |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000275013] |
Chr3:38490559 [GRCh38]
Chr3:38532050 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*5096A>G |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000275581] |
Chr3:38488428 [GRCh38]
Chr3:38529919 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*4650A>C |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000268533] |
Chr3:38487982 [GRCh38]
Chr3:38529473 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*9038G>A |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000269351] |
Chr3:38492370 [GRCh38]
Chr3:38533861 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.99C>T (p.Asn33=) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000555284] |
Chr3:38477333 [GRCh38]
Chr3:38518824 [GRCh37]
Chr3:3p22.2 |
likely benign |
| NM_001106.4(ACVR2B):c.*9443_*9469delinsT |
indel |
Visceral heterotaxy [RCV000362346] |
Chr3:38492775..38492801 [GRCh38]
Chr3:38534266..38534292 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*4610A>G |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000303325] |
Chr3:38487942 [GRCh38]
Chr3:38529433 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*7620G>A |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000381143] |
Chr3:38490952 [GRCh38]
Chr3:38532443 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*9399_*9435delinsATT |
indel |
Visceral heterotaxy [RCV000347156] |
Chr3:38492731..38492767 [GRCh38]
Chr3:38534222..38534258 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*5968CA[1] |
microsatellite |
Visceral heterotaxy [RCV000401560] |
Chr3:38489299..38489300 [GRCh38]
Chr3:38530790..38530791 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*2359_*2361del |
deletion |
Visceral heterotaxy [RCV000402183]|not provided [RCV004694739] |
Chr3:38485667..38485669 [GRCh38]
Chr3:38527158..38527160 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*2362_*2364del |
deletion |
Visceral heterotaxy [RCV000347744] |
Chr3:38485693..38485695 [GRCh38]
Chr3:38527184..38527186 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*665G>A |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000384317] |
Chr3:38483997 [GRCh38]
Chr3:38525488 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*6043C>G |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000305341] |
Chr3:38489375 [GRCh38]
Chr3:38530866 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*7110T>C |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000333585] |
Chr3:38490442 [GRCh38]
Chr3:38531933 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*48del |
deletion |
Visceral heterotaxy [RCV000295047] |
Chr3:38483375 [GRCh38]
Chr3:38524866 [GRCh37]
Chr3:3p22.2 |
likely benign |
| NM_001106.4(ACVR2B):c.*8675dup |
duplication |
Visceral heterotaxy [RCV000367522] |
Chr3:38492006..38492007 [GRCh38]
Chr3:38533497..38533498 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*9150C>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000285002] |
Chr3:38492482 [GRCh38]
Chr3:38533973 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*4061dup |
duplication |
Visceral heterotaxy [RCV000335193] |
Chr3:38487392..38487393 [GRCh38]
Chr3:38528883..38528884 [GRCh37]
Chr3:3p22.2 |
likely benign |
| NM_001106.4(ACVR2B):c.*3895T>G |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000387852] |
Chr3:38487227 [GRCh38]
Chr3:38528718 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*9399_*9437delinsATT |
indel |
Visceral heterotaxy [RCV000406928] |
Chr3:38492731..38492769 [GRCh38]
Chr3:38534222..38534260 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*4890T>C |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000307271] |
Chr3:38488222 [GRCh38]
Chr3:38529713 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*9399T>C |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000307616] |
Chr3:38492731 [GRCh38]
Chr3:38534222 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*9272C>G |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000321363] |
Chr3:38492604 [GRCh38]
Chr3:38534095 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*9319TA[8] |
microsatellite |
Visceral heterotaxy [RCV000336561] |
Chr3:38492649..38492650 [GRCh38]
Chr3:38534140..38534141 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*1574_*1579del |
deletion |
Visceral heterotaxy [RCV000308523] |
Chr3:38484905..38484910 [GRCh38]
Chr3:38526396..38526401 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*2036G>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000352932] |
Chr3:38485368 [GRCh38]
Chr3:38526859 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*7643G>A |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000286352] |
Chr3:38490975 [GRCh38]
Chr3:38532466 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*2361dup |
duplication |
Visceral heterotaxy [RCV000286609]|not provided [RCV004694737] |
Chr3:38485666..38485667 [GRCh38]
Chr3:38527157..38527158 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*8334del |
deletion |
Visceral heterotaxy [RCV000298237] |
Chr3:38491664 [GRCh38]
Chr3:38533155 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*146T>C |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000298349] |
Chr3:38483478 [GRCh38]
Chr3:38524969 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*2758C>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000298581] |
Chr3:38486090 [GRCh38]
Chr3:38527581 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*3300C>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000323872] |
Chr3:38486632 [GRCh38]
Chr3:38528123 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*9041T>C |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000324424] |
Chr3:38492373 [GRCh38]
Chr3:38533864 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*2841dup |
duplication |
Visceral heterotaxy [RCV000355720] |
Chr3:38486171..38486172 [GRCh38]
Chr3:38527662..38527663 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*1544C>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000391482] |
Chr3:38484876 [GRCh38]
Chr3:38526367 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*6534C>G |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000391835] |
Chr3:38489866 [GRCh38]
Chr3:38531357 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*9398_*9399insATTA |
insertion |
Visceral heterotaxy [RCV000311004] |
Chr3:38492730..38492731 [GRCh38]
Chr3:38534221..38534222 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*5888A>G |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000340246] |
Chr3:38489220 [GRCh38]
Chr3:38530711 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*4486C>G |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000392929] |
Chr3:38487818 [GRCh38]
Chr3:38529309 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*2619C>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000393782] |
Chr3:38485951 [GRCh38]
Chr3:38527442 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*4366G>A |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000299922] |
Chr3:38487698 [GRCh38]
Chr3:38529189 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*2364_*2365insC |
insertion |
Visceral heterotaxy [RCV000393793] |
Chr3:38485696..38485697 [GRCh38]
Chr3:38527187..38527188 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*3345A>C |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000327304] |
Chr3:38486677 [GRCh38]
Chr3:38528168 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*6465A>G |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000358252] |
Chr3:38489797 [GRCh38]
Chr3:38531288 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.546C>T (p.Ser182=) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000358868] |
Chr3:38478398 [GRCh38]
Chr3:38519889 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*7424A>G |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000290314] |
Chr3:38490756 [GRCh38]
Chr3:38532247 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*342TTGT[1] |
microsatellite |
Visceral heterotaxy [RCV000301955]|not provided [RCV003430879] |
Chr3:38483673..38483676 [GRCh38]
Chr3:38525164..38525167 [GRCh37]
Chr3:3p22.2 |
benign|uncertain significance |
| NM_001106.4(ACVR2B):c.*2360_*2361dup |
duplication |
Visceral heterotaxy [RCV000343959]|not provided [RCV004694738] |
Chr3:38485666..38485667 [GRCh38]
Chr3:38527157..38527158 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*2332_*2334del |
deletion |
Visceral heterotaxy [RCV000378699] |
Chr3:38485664..38485666 [GRCh38]
Chr3:38527155..38527157 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| GRCh37/hg19 3p22.2(chr3:37891706-38877793)x3 |
copy number gain |
See cases [RCV000599294] |
Chr3:37891706..38877793 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NC_000003.11:g.(?_37493846)_(38991873_?)del |
deletion |
Brugada syndrome [RCV000531304] |
Chr3:37493846..38991873 [GRCh37]
Chr3:3p22.2 |
pathogenic|uncertain significance |
| NM_001106.4(ACVR2B):c.371-9G>C |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV002525660] |
Chr3:38478132 [GRCh38]
Chr3:38519623 [GRCh37]
Chr3:3p22.2 |
likely benign |
| NM_001106.4(ACVR2B):c.1269G>A (p.Ser423=) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000470660]|not provided [RCV003437215] |
Chr3:38482485 [GRCh38]
Chr3:38523976 [GRCh37]
Chr3:3p22.2 |
likely benign|conflicting interpretations of pathogenicity |
| GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 |
copy number gain |
See cases [RCV000511055] |
Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29 |
pathogenic |
| GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) |
copy number gain |
See cases [RCV000512358] |
Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29 |
pathogenic |
| GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3 |
copy number gain |
not provided [RCV000682249] |
Chr3:16923595..45249923 [GRCh37]
Chr3:3p24.3-21.31 |
pathogenic |
| GRCh37/hg19 3p22.2(chr3:38021661-38510752)x3 |
copy number gain |
not provided [RCV000682254] |
Chr3:38021661..38510752 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.1A>G (p.Met1Val) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000703017] |
Chr3:38454323 [GRCh38]
Chr3:38495814 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.926G>A (p.Arg309His) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000702416]|not specified [RCV004026591] |
Chr3:38479793 [GRCh38]
Chr3:38521284 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.1532G>A (p.Ser511Asn) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000698647] |
Chr3:38483325 [GRCh38]
Chr3:38524816 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 |
copy number gain |
not provided [RCV000742138] |
Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29 |
pathogenic |
| GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 |
copy number gain |
not provided [RCV000742133] |
Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29 |
pathogenic |
| GRCh37/hg19 3p22.2(chr3:38386516-38737868)x1 |
copy number loss |
not provided [RCV000742371] |
Chr3:38386516..38737868 [GRCh37]
Chr3:3p22.2 |
benign |
| NM_001106.4(ACVR2B):c.811-168C>T |
single nucleotide variant |
not provided [RCV001648337] |
Chr3:38479510 [GRCh38]
Chr3:38521001 [GRCh37]
Chr3:3p22.2 |
benign |
| NM_001106.4(ACVR2B):c.527C>G (p.Pro176Arg) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000754876] |
Chr3:38478379 [GRCh38]
Chr3:38519870 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*8492G>C |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001148673] |
Chr3:38491824 [GRCh38]
Chr3:38533315 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*4741T>C |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001148447] |
Chr3:38488073 [GRCh38]
Chr3:38529564 [GRCh37]
Chr3:3p22.2 |
likely benign |
| NM_001106.4(ACVR2B):c.*4333T>G |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001145683] |
Chr3:38487665 [GRCh38]
Chr3:38529156 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*4418A>G |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001145684] |
Chr3:38487750 [GRCh38]
Chr3:38529241 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*4608A>C |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001145686] |
Chr3:38487940 [GRCh38]
Chr3:38529431 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*5901C>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001145792] |
Chr3:38489233 [GRCh38]
Chr3:38530724 [GRCh37]
Chr3:3p22.2 |
benign |
| NM_001106.4(ACVR2B):c.*159T>A |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001148129] |
Chr3:38483491 [GRCh38]
Chr3:38524982 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*1633C>G |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001148242] |
Chr3:38484965 [GRCh38]
Chr3:38526456 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*9783A>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001145999] |
Chr3:38493115 [GRCh38]
Chr3:38534606 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.667-9C>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001513608]|not provided [RCV004708988] |
Chr3:38479119 [GRCh38]
Chr3:38520610 [GRCh37]
Chr3:3p22.2 |
benign |
| NM_001106.4(ACVR2B):c.1068C>T (p.His356=) |
single nucleotide variant |
not provided [RCV000951410] |
Chr3:38481459 [GRCh38]
Chr3:38522950 [GRCh37]
Chr3:3p22.2 |
likely benign |
| NM_001106.4(ACVR2B):c.366G>A (p.Pro122=) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV002064581] |
Chr3:38477966 [GRCh38]
Chr3:38519457 [GRCh37]
Chr3:3p22.2 |
likely benign |
| NM_001106.4(ACVR2B):c.1147C>T (p.Arg383Cys) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000754875] |
Chr3:38482270 [GRCh38]
Chr3:38523761 [GRCh37]
Chr3:3p22.2 |
likely pathogenic|uncertain significance |
| NM_001106.4(ACVR2B):c.1209A>G (p.Ala403=) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000944318] |
Chr3:38482332 [GRCh38]
Chr3:38523823 [GRCh37]
Chr3:3p22.2 |
likely benign |
| NM_001106.4(ACVR2B):c.177C>T (p.Cys59=) |
single nucleotide variant |
not provided [RCV000980622] |
Chr3:38477411 [GRCh38]
Chr3:38518902 [GRCh37]
Chr3:3p22.2 |
likely benign |
| NM_001106.4(ACVR2B):c.1140C>T (p.Ala380=) |
single nucleotide variant |
ACVR2B-related disorder [RCV003975379]|Heterotaxy, visceral, 4, autosomal [RCV000862018] |
Chr3:38482263 [GRCh38]
Chr3:38523754 [GRCh37]
Chr3:3p22.2 |
benign|likely benign |
| NM_001106.4(ACVR2B):c.879G>A (p.Thr293=) |
single nucleotide variant |
not provided [RCV000951778] |
Chr3:38479746 [GRCh38]
Chr3:38521237 [GRCh37]
Chr3:3p22.2 |
likely benign |
| NC_000003.12:g.(?_37452365)_(38950372_?)del |
deletion |
Brugada syndrome [RCV000823258] |
Chr3:37452365..38950372 [GRCh38]
Chr3:37493856..38991863 [GRCh37]
Chr3:3p22.2 |
pathogenic |
| NM_001106.4(ACVR2B):c.481C>T (p.Arg161Trp) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000793449] |
Chr3:38478251 [GRCh38]
Chr3:38519742 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.143G>T (p.Arg48Leu) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000801072] |
Chr3:38477377 [GRCh38]
Chr3:38518868 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*106G>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001147229] |
Chr3:38483438 [GRCh38]
Chr3:38524929 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*9711T>C |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001145997] |
Chr3:38493043 [GRCh38]
Chr3:38534534 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*9763T>G |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001145998] |
Chr3:38493095 [GRCh38]
Chr3:38534586 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*2791C>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001147404] |
Chr3:38486123 [GRCh38]
Chr3:38527614 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*427C>G |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001149683] |
Chr3:38483759 [GRCh38]
Chr3:38525250 [GRCh37]
Chr3:3p22.2 |
benign |
| NM_001106.4(ACVR2B):c.45G>A (p.Leu15=) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001148023] |
Chr3:38454367 [GRCh38]
Chr3:38495858 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NC_000003.12:g.(?_37452365)_(38950372_?)dup |
duplication |
Heterotaxy, visceral, 4, autosomal [RCV001031367] |
Chr3:37493856..38991863 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.482G>A (p.Arg161Gln) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001149564] |
Chr3:38478252 [GRCh38]
Chr3:38519743 [GRCh37]
Chr3:3p22.2 |
likely benign |
| NM_001106.4(ACVR2B):c.*6372A>G |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001148557] |
Chr3:38489704 [GRCh38]
Chr3:38531195 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*488G>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001149684] |
Chr3:38483820 [GRCh38]
Chr3:38525311 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*8714G>A |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001148674] |
Chr3:38492046 [GRCh38]
Chr3:38533537 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*3401C>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001149895] |
Chr3:38486733 [GRCh38]
Chr3:38528224 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*7292T>C |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001150125] |
Chr3:38490624 [GRCh38]
Chr3:38532115 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*4793A>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001148448] |
Chr3:38488125 [GRCh38]
Chr3:38529616 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*6156C>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001145794] |
Chr3:38489488 [GRCh38]
Chr3:38530979 [GRCh37]
Chr3:3p22.2 |
benign |
| NC_000003.11:g.(?_38518768)_(38674808_?)dup |
duplication |
Brugada syndrome [RCV000813340] |
Chr3:38477277..38633317 [GRCh38]
Chr3:38518768..38674808 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.1195C>G (p.Arg399Gly) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV000815679] |
Chr3:38482318 [GRCh38]
Chr3:38523809 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.-21C>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001148021] |
Chr3:38454302 [GRCh38]
Chr3:38495793 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*2392T>G |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001147403] |
Chr3:38485724 [GRCh38]
Chr3:38527215 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*2829C>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001147405] |
Chr3:38486161 [GRCh38]
Chr3:38527652 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*3712G>C |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001145565] |
Chr3:38487044 [GRCh38]
Chr3:38528535 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*4026C>G |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001145567] |
Chr3:38487358 [GRCh38]
Chr3:38528849 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.849A>G (p.Thr283=) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001145276] |
Chr3:38479716 [GRCh38]
Chr3:38521207 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.1213+14C>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001145277] |
Chr3:38482350 [GRCh38]
Chr3:38523841 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.365C>T (p.Pro122Leu) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV005102525]|not specified [RCV004288848] |
Chr3:38477965 [GRCh38]
Chr3:38519456 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*630T>C |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001149685] |
Chr3:38483962 [GRCh38]
Chr3:38525453 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*1815G>A |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001149787] |
Chr3:38485147 [GRCh38]
Chr3:38526638 [GRCh37]
Chr3:3p22.2 |
likely benign |
| NM_001106.4(ACVR2B):c.*1988C>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001149791] |
Chr3:38485320 [GRCh38]
Chr3:38526811 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*1020G>C |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001147312] |
Chr3:38484352 [GRCh38]
Chr3:38525843 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*3345A>G |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001149894] |
Chr3:38486677 [GRCh38]
Chr3:38528168 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*2833C>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001147406] |
Chr3:38486165 [GRCh38]
Chr3:38527656 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*5264C>G |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001143894] |
Chr3:38488596 [GRCh38]
Chr3:38530087 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*5285A>G |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001143895] |
Chr3:38488617 [GRCh38]
Chr3:38530108 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*7413T>C |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001143993] |
Chr3:38490745 [GRCh38]
Chr3:38532236 [GRCh37]
Chr3:3p22.2 |
benign |
| NM_001106.4(ACVR2B):c.*3140C>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001148328] |
Chr3:38486472 [GRCh38]
Chr3:38527963 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*4699C>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001148445] |
Chr3:38488031 [GRCh38]
Chr3:38529522 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*6522T>G |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001148559] |
Chr3:38489854 [GRCh38]
Chr3:38531345 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*8427T>G |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001148672] |
Chr3:38491759 [GRCh38]
Chr3:38533250 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*5767T>C |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001145790] |
Chr3:38489099 [GRCh38]
Chr3:38530590 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*8308C>G |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001145892] |
Chr3:38491640 [GRCh38]
Chr3:38533131 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NC_000003.11:g.(?_38180153)_(38618292_?)dup |
duplication |
Pyogenic bacterial infections due to MyD88 deficiency [RCV003107688] |
Chr3:38180153..38618292 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.1075-194G>T |
single nucleotide variant |
not provided [RCV001716893] |
Chr3:38482004 [GRCh38]
Chr3:38523495 [GRCh37]
Chr3:3p22.2 |
benign |
| NM_001106.4(ACVR2B):c.1344+35G>A |
single nucleotide variant |
not provided [RCV001687472] |
Chr3:38482595 [GRCh38]
Chr3:38524086 [GRCh37]
Chr3:3p22.2 |
benign |
| NM_001106.4(ACVR2B):c.1344+143G>C |
single nucleotide variant |
not provided [RCV001639915] |
Chr3:38482703 [GRCh38]
Chr3:38524194 [GRCh37]
Chr3:3p22.2 |
benign |
| NM_001106.4(ACVR2B):c.*6071G>A |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001145793] |
Chr3:38489403 [GRCh38]
Chr3:38530894 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*7915A>G |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001145888] |
Chr3:38491247 [GRCh38]
Chr3:38532738 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*9484T>G |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001145996] |
Chr3:38492816 [GRCh38]
Chr3:38534307 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*767C>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001145373] |
Chr3:38484099 [GRCh38]
Chr3:38525590 [GRCh37]
Chr3:3p22.2 |
likely benign |
| NM_001106.4(ACVR2B):c.*3758A>G |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001145566] |
Chr3:38487090 [GRCh38]
Chr3:38528581 [GRCh37]
Chr3:3p22.2 |
likely benign |
| NM_001106.4(ACVR2B):c.*4085A>G |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001145568] |
Chr3:38487417 [GRCh38]
Chr3:38528908 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.24C>A (p.Leu8=) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001148022] |
Chr3:38454346 [GRCh38]
Chr3:38495837 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*1785C>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001148243] |
Chr3:38485117 [GRCh38]
Chr3:38526608 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*3169T>A |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001148329] |
Chr3:38486501 [GRCh38]
Chr3:38527992 [GRCh37]
Chr3:3p22.2 |
benign |
| NM_001106.4(ACVR2B):c.*9476A>C |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001144104] |
Chr3:38492808 [GRCh38]
Chr3:38534299 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.666+10T>C |
single nucleotide variant |
not provided [RCV000889621] |
Chr3:38478528 [GRCh38]
Chr3:38520019 [GRCh37]
Chr3:3p22.2 |
likely benign |
| NM_001106.4(ACVR2B):c.1344+277G>C |
single nucleotide variant |
not provided [RCV001613476] |
Chr3:38482837 [GRCh38]
Chr3:38524328 [GRCh37]
Chr3:3p22.2 |
benign |
| NM_001106.4(ACVR2B):c.1344+287C>G |
single nucleotide variant |
not provided [RCV001721720] |
Chr3:38482847 [GRCh38]
Chr3:38524338 [GRCh37]
Chr3:3p22.2 |
benign |
| NM_001106.4(ACVR2B):c.1345-266C>T |
single nucleotide variant |
not provided [RCV001694346] |
Chr3:38482872 [GRCh38]
Chr3:38524363 [GRCh37]
Chr3:3p22.2 |
benign |
| NM_001106.4(ACVR2B):c.811-73C>T |
single nucleotide variant |
not provided [RCV001658658] |
Chr3:38479605 [GRCh38]
Chr3:38521096 [GRCh37]
Chr3:3p22.2 |
benign |
| NM_001106.4(ACVR2B):c.*5161A>G |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001143893] |
Chr3:38488493 [GRCh38]
Chr3:38529984 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*9473T>C |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001144103]|not provided [RCV004694889] |
Chr3:38492805 [GRCh38]
Chr3:38534296 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*668C>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001145372] |
Chr3:38484000 [GRCh38]
Chr3:38525491 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.6G>C (p.Thr2=) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV005094893]|not provided [RCV001703258] |
Chr3:38454328 [GRCh38]
Chr3:38495819 [GRCh37]
Chr3:3p22.2 |
likely benign |
| GRCh37/hg19 3p22.2(chr3:38393336-38555140)x1 |
copy number loss |
not provided [RCV001005426] |
Chr3:38393336..38555140 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.1410C>T (p.Ser470=) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001145278] |
Chr3:38483203 [GRCh38]
Chr3:38524694 [GRCh37]
Chr3:3p22.2 |
benign|likely benign |
| NM_001106.4(ACVR2B):c.*788G>A |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001145374] |
Chr3:38484120 [GRCh38]
Chr3:38525611 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.1344+260A>G |
single nucleotide variant |
not provided [RCV001649783] |
Chr3:38482820 [GRCh38]
Chr3:38524311 [GRCh37]
Chr3:3p22.2 |
benign |
| NM_001106.4(ACVR2B):c.*3180T>C |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001148330] |
Chr3:38486512 [GRCh38]
Chr3:38528003 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*6206T>C |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001148556] |
Chr3:38489538 [GRCh38]
Chr3:38531029 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.410C>T (p.Thr137Met) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001214399] |
Chr3:38478180 [GRCh38]
Chr3:38519671 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*8714G>C |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001148675] |
Chr3:38492046 [GRCh38]
Chr3:38533537 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*1831G>A |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001149788] |
Chr3:38485163 [GRCh38]
Chr3:38526654 [GRCh37]
Chr3:3p22.2 |
likely benign |
| NM_001106.4(ACVR2B):c.*1969A>C |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001149790] |
Chr3:38485301 [GRCh38]
Chr3:38526792 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*5022C>G |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001150012] |
Chr3:38488354 [GRCh38]
Chr3:38529845 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*6847C>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001150124] |
Chr3:38490179 [GRCh38]
Chr3:38531670 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*8980T>C |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001150246] |
Chr3:38492312 [GRCh38]
Chr3:38533803 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*5841C>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001145791] |
Chr3:38489173 [GRCh38]
Chr3:38530664 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*8026C>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001145889] |
Chr3:38491358 [GRCh38]
Chr3:38532849 [GRCh37]
Chr3:3p22.2 |
benign |
| NM_001106.4(ACVR2B):c.*14G>A |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001147228] |
Chr3:38483346 [GRCh38]
Chr3:38524837 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*1210T>C |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001147313] |
Chr3:38484542 [GRCh38]
Chr3:38526033 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*147A>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001148128] |
Chr3:38483479 [GRCh38]
Chr3:38524970 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*1792C>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001148244] |
Chr3:38485124 [GRCh38]
Chr3:38526615 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.553G>C (p.Val185Leu) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001054179] |
Chr3:38478405 [GRCh38]
Chr3:38519896 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.479A>T (p.Tyr160Phe) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001149563] |
Chr3:38478249 [GRCh38]
Chr3:38519740 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*1892G>A |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001149789] |
Chr3:38485224 [GRCh38]
Chr3:38526715 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*2002C>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001149792] |
Chr3:38485334 [GRCh38]
Chr3:38526825 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*4565A>G |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001145685]|not provided [RCV003438679] |
Chr3:38487897 [GRCh38]
Chr3:38529388 [GRCh37]
Chr3:3p22.2 |
likely benign|uncertain significance |
| NM_001106.4(ACVR2B):c.*8037G>A |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001145890] |
Chr3:38491369 [GRCh38]
Chr3:38532860 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*8294A>C |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001145891] |
Chr3:38491626 [GRCh38]
Chr3:38533117 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*3530C>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001149896] |
Chr3:38486862 [GRCh38]
Chr3:38528353 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*4984T>C |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001150011]|not provided [RCV004694932] |
Chr3:38488316 [GRCh38]
Chr3:38529807 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*1265G>A |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001147314] |
Chr3:38484597 [GRCh38]
Chr3:38526088 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.960-3C>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001037990] |
Chr3:38481348 [GRCh38]
Chr3:38522839 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*166A>G |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001148130] |
Chr3:38483498 [GRCh38]
Chr3:38524989 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*4726G>A |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001148446] |
Chr3:38488058 [GRCh38]
Chr3:38529549 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*6389A>G |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001148558] |
Chr3:38489721 [GRCh38]
Chr3:38531212 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.*9286A>G |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001144102] |
Chr3:38492618 [GRCh38]
Chr3:38534109 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.925C>T (p.Arg309Cys) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001294981] |
Chr3:38479792 [GRCh38]
Chr3:38521283 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.1445G>A (p.Arg482Gln) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001342651]|not specified [RCV004036002] |
Chr3:38483238 [GRCh38]
Chr3:38524729 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.1148G>A (p.Arg383His) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001324509] |
Chr3:38482271 [GRCh38]
Chr3:38523762 [GRCh37]
Chr3:3p22.2 |
likely pathogenic|uncertain significance |
| NM_001106.4(ACVR2B):c.1156A>C (p.Met386Leu) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001312769] |
Chr3:38482279 [GRCh38]
Chr3:38523770 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.260+10G>C |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001421506] |
Chr3:38477504 [GRCh38]
Chr3:38518995 [GRCh37]
Chr3:3p22.2 |
likely benign |
| NC_000003.11:g.(?_37493856)_(38991863_?)dup |
duplication |
Heterotaxy, visceral, 4, autosomal [RCV001324195] |
Chr3:37493856..38991863 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.52+200C>T |
single nucleotide variant |
not provided [RCV001541463] |
Chr3:38454574 [GRCh38]
Chr3:38496065 [GRCh37]
Chr3:3p22.2 |
benign |
| NM_001106.4(ACVR2B):c.1179G>T (p.Leu393=) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001431882] |
Chr3:38482302 [GRCh38]
Chr3:38523793 [GRCh37]
Chr3:3p22.2 |
likely benign |
| NM_001106.4(ACVR2B):c.960-72T>C |
single nucleotide variant |
not provided [RCV001655338] |
Chr3:38481279 [GRCh38]
Chr3:38522770 [GRCh37]
Chr3:3p22.2 |
benign |
| NM_001106.4(ACVR2B):c.959+108C>T |
single nucleotide variant |
not provided [RCV001666877] |
Chr3:38479934 [GRCh38]
Chr3:38521425 [GRCh37]
Chr3:3p22.2 |
benign |
| NM_001106.4(ACVR2B):c.771C>T (p.Leu257=) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001511861] |
Chr3:38479232 [GRCh38]
Chr3:38520723 [GRCh37]
Chr3:3p22.2 |
benign |
| NM_001106.4(ACVR2B):c.979G>A (p.Val327Ile) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001888913]|not specified [RCV004041369] |
Chr3:38481370 [GRCh38]
Chr3:38522861 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.10C>T (p.Pro4Ser) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV002008065] |
Chr3:38454332 [GRCh38]
Chr3:38495823 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.406C>T (p.Leu136Phe) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001965258] |
Chr3:38478176 [GRCh38]
Chr3:38519667 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| GRCh37/hg19 3p22.2(chr3:38109534-38669316) |
copy number gain |
not specified [RCV002053342] |
Chr3:38109534..38669316 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.148G>A (p.Glu50Lys) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001918168] |
Chr3:38477382 [GRCh38]
Chr3:38518873 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.775G>C (p.Val259Leu) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV002038263] |
Chr3:38479236 [GRCh38]
Chr3:38520727 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.343C>T (p.His115Tyr) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001957592] |
Chr3:38477943 [GRCh38]
Chr3:38519434 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.20C>T (p.Ala7Val) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001976860] |
Chr3:38454342 [GRCh38]
Chr3:38495833 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NC_000003.11:g.(?_37034542)_(38835501_?)dup |
duplication |
Heterotaxy, visceral, 4, autosomal [RCV001900394] |
Chr3:37034542..38835501 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.1219G>A (p.Val407Met) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV001881605] |
Chr3:38482435 [GRCh38]
Chr3:38523926 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NC_000003.11:g.(?_16710965)_(41275270_?)del |
deletion |
not provided [RCV001958625] |
Chr3:16710965..41275270 [GRCh37]
Chr3:3p24.3-22.1 |
pathogenic |
| NM_001106.4(ACVR2B):c.261-8G>A |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV002108675] |
Chr3:38477853 [GRCh38]
Chr3:38519344 [GRCh37]
Chr3:3p22.2 |
likely benign |
| NM_001106.4(ACVR2B):c.370+14G>A |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV002168778] |
Chr3:38477984 [GRCh38]
Chr3:38519475 [GRCh37]
Chr3:3p22.2 |
benign |
| NM_001106.4(ACVR2B):c.243C>T (p.Asp81=) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV002075627] |
Chr3:38477477 [GRCh38]
Chr3:38518968 [GRCh37]
Chr3:3p22.2 |
likely benign |
| NM_001106.4(ACVR2B):c.351A>G (p.Pro117=) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV002215790] |
Chr3:38477951 [GRCh38]
Chr3:38519442 [GRCh37]
Chr3:3p22.2 |
likely benign |
| NM_001106.4(ACVR2B):c.52+8C>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV002175296] |
Chr3:38454382 [GRCh38]
Chr3:38495873 [GRCh37]
Chr3:3p22.2 |
likely benign |
| NM_001106.4(ACVR2B):c.112C>T (p.Leu38=) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV002218277] |
Chr3:38477346 [GRCh38]
Chr3:38518837 [GRCh37]
Chr3:3p22.2 |
likely benign |
| NM_001106.4(ACVR2B):c.370+20G>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV002138367] |
Chr3:38477990 [GRCh38]
Chr3:38519481 [GRCh37]
Chr3:3p22.2 |
likely benign |
| NM_001106.4(ACVR2B):c.553G>T (p.Val185Leu) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV003076254]|not specified [RCV005323310] |
Chr3:38478405 [GRCh38]
Chr3:38519896 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.652A>T (p.Ile218Phe) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV002995409] |
Chr3:38478504 [GRCh38]
Chr3:38519995 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.22C>T (p.Leu8Phe) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV002616591]|not specified [RCV004070563] |
Chr3:38454344 [GRCh38]
Chr3:38495835 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.260+1G>C |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV002847113] |
Chr3:38477495 [GRCh38]
Chr3:38518986 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.9G>A (p.Ala3=) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV003078896] |
Chr3:38454331 [GRCh38]
Chr3:38495822 [GRCh37]
Chr3:3p22.2 |
likely benign |
| NM_001106.4(ACVR2B):c.542C>T (p.Pro181Leu) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV003080524] |
Chr3:38478394 [GRCh38]
Chr3:38519885 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.383C>G (p.Pro128Arg) |
single nucleotide variant |
not specified [RCV004166031] |
Chr3:38478153 [GRCh38]
Chr3:38519644 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.1287G>A (p.Glu429=) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV002957745] |
Chr3:38482503 [GRCh38]
Chr3:38523994 [GRCh37]
Chr3:3p22.2 |
likely benign |
| NM_001106.4(ACVR2B):c.930C>T (p.Gly310=) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV002599820] |
Chr3:38479797 [GRCh38]
Chr3:38521288 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.702C>T (p.Phe234=) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV002899766] |
Chr3:38479163 [GRCh38]
Chr3:38520654 [GRCh37]
Chr3:3p22.2 |
likely benign |
| NM_001106.4(ACVR2B):c.100G>A (p.Ala34Thr) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV002770270] |
Chr3:38477334 [GRCh38]
Chr3:38518825 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.1151T>C (p.Ile384Thr) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV003088093] |
Chr3:38482274 [GRCh38]
Chr3:38523765 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.1186C>G (p.Leu396Val) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV002966283]|not specified [RCV004068108] |
Chr3:38482309 [GRCh38]
Chr3:38523800 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.260+12C>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV002814817] |
Chr3:38477506 [GRCh38]
Chr3:38518997 [GRCh37]
Chr3:3p22.2 |
likely benign |
| NM_001106.4(ACVR2B):c.1252A>T (p.Ile418Phe) |
single nucleotide variant |
not specified [RCV004263432] |
Chr3:38482468 [GRCh38]
Chr3:38523959 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.62G>A (p.Arg21His) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV003141190]|not specified [RCV005310955] |
Chr3:38477296 [GRCh38]
Chr3:38518787 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.738G>C (p.Gln246His) |
single nucleotide variant |
ACVR2B-related disorder [RCV003399758]|Heterotaxy, visceral, 4, autosomal [RCV003507507] |
Chr3:38479199 [GRCh38]
Chr3:38520690 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.61C>T (p.Arg21Cys) |
single nucleotide variant |
ACVR2B-related disorder [RCV003410628] |
Chr3:38477295 [GRCh38]
Chr3:38518786 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.1101T>C (p.Pro367=) |
single nucleotide variant |
not provided [RCV003437760] |
Chr3:38482224 [GRCh38]
Chr3:38523715 [GRCh37]
Chr3:3p22.2 |
likely benign |
| NM_001106.4(ACVR2B):c.1530A>G (p.Ser510=) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV003508903] |
Chr3:38483323 [GRCh38]
Chr3:38524814 [GRCh37]
Chr3:3p22.2 |
likely benign |
| NM_001106.4(ACVR2B):c.772G>A (p.Glu258Lys) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV003508471] |
Chr3:38479233 [GRCh38]
Chr3:38520724 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.1536C>T (p.Ile512=) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV003824980] |
Chr3:38483329 [GRCh38]
Chr3:38524820 [GRCh37]
Chr3:3p22.2 |
likely benign |
| NM_001106.4(ACVR2B):c.1252A>C (p.Ile418Leu) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV003508715] |
Chr3:38482468 [GRCh38]
Chr3:38523959 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.507T>C (p.His169=) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV003508696] |
Chr3:38478277 [GRCh38]
Chr3:38519768 [GRCh37]
Chr3:3p22.2 |
likely benign |
| NM_001106.4(ACVR2B):c.420C>T (p.Ala140=) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV003508972] |
Chr3:38478190 [GRCh38]
Chr3:38519681 [GRCh37]
Chr3:3p22.2 |
likely benign |
| NM_001106.4(ACVR2B):c.1534A>G (p.Ile512Val) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV003508429] |
Chr3:38483327 [GRCh38]
Chr3:38524818 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.666+2T>C |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV003507215] |
Chr3:38478520 [GRCh38]
Chr3:38520011 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.1080C>T (p.Gly360=) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV003506891] |
Chr3:38482203 [GRCh38]
Chr3:38523694 [GRCh37]
Chr3:3p22.2 |
likely benign |
| NM_001106.4(ACVR2B):c.510G>C (p.Val170=) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV003618879] |
Chr3:38478280 [GRCh38]
Chr3:38519771 [GRCh37]
Chr3:3p22.2 |
likely benign |
| NM_001106.4(ACVR2B):c.1213G>A (p.Gly405Arg) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV003618993] |
Chr3:38482336 [GRCh38]
Chr3:38523827 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.981A>G (p.Val327=) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV003856441] |
Chr3:38481372 [GRCh38]
Chr3:38522863 [GRCh37]
Chr3:3p22.2 |
likely benign |
| NM_001106.4(ACVR2B):c.1075-19C>T |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV003617655] |
Chr3:38482179 [GRCh38]
Chr3:38523670 [GRCh37]
Chr3:3p22.2 |
likely benign |
| NM_001106.4(ACVR2B):c.1451C>T (p.Ser484Leu) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV003617758] |
Chr3:38483244 [GRCh38]
Chr3:38524735 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.488G>A (p.Arg163His) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV003834729]|not specified [RCV004366895] |
Chr3:38478258 [GRCh38]
Chr3:38519749 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.1489G>A (p.Val497Met) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV003618605] |
Chr3:38483282 [GRCh38]
Chr3:38524773 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.614G>A (p.Trp205Ter) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV003618887] |
Chr3:38478466 [GRCh38]
Chr3:38519957 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.578T>G (p.Leu193Arg) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV003618905] |
Chr3:38478430 [GRCh38]
Chr3:38519921 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.52+9_52+10del |
deletion |
ACVR2B-related disorder [RCV003967220] |
Chr3:38454383..38454384 [GRCh38]
Chr3:38495874..38495875 [GRCh37]
Chr3:3p22.2 |
likely benign |
| NM_001106.4(ACVR2B):c.811-9T>C |
single nucleotide variant |
ACVR2B-related disorder [RCV003959498] |
Chr3:38479669 [GRCh38]
Chr3:38521160 [GRCh37]
Chr3:3p22.2 |
likely benign |
| NM_001106.4(ACVR2B):c.371-3C>T |
single nucleotide variant |
ACVR2B-related disorder [RCV003961646]|Heterotaxy, visceral, 4, autosomal [RCV005102932] |
Chr3:38478138 [GRCh38]
Chr3:38519629 [GRCh37]
Chr3:3p22.2 |
likely benign|uncertain significance |
| NM_001106.4(ACVR2B):c.1005C>T (p.Ala335=) |
single nucleotide variant |
ACVR2B-related disorder [RCV003954843] |
Chr3:38481396 [GRCh38]
Chr3:38522887 [GRCh37]
Chr3:3p22.2 |
likely benign |
| NM_001106.4(ACVR2B):c.*9C>T |
single nucleotide variant |
ACVR2B-related disorder [RCV003897342] |
Chr3:38483341 [GRCh38]
Chr3:38524832 [GRCh37]
Chr3:3p22.2 |
likely benign |
| NM_001106.4(ACVR2B):c.1475G>C (p.Cys492Ser) |
single nucleotide variant |
not specified [RCV004428498] |
Chr3:38483268 [GRCh38]
Chr3:38524759 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.143G>A (p.Arg48His) |
single nucleotide variant |
not specified [RCV004428492] |
Chr3:38477377 [GRCh38]
Chr3:38518868 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.776T>C (p.Val259Ala) |
single nucleotide variant |
not specified [RCV004606711] |
Chr3:38479237 [GRCh38]
Chr3:38520728 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.1469C>T (p.Ser490Leu) |
single nucleotide variant |
not specified [RCV004606701] |
Chr3:38483262 [GRCh38]
Chr3:38524753 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.1352C>T (p.Ala451Val) |
single nucleotide variant |
ACVR2B-related disorder [RCV004752232] |
Chr3:38483145 [GRCh38]
Chr3:38524636 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.522+8_522+10dup |
duplication |
Heterotaxy, visceral, 4, autosomal [RCV005176054] |
Chr3:38478299..38478300 [GRCh38]
Chr3:38519790..38519791 [GRCh37]
Chr3:3p22.2 |
likely benign |
| NM_001106.4(ACVR2B):c.1371C>T (p.Ile457=) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV005062448] |
Chr3:38483164 [GRCh38]
Chr3:38524655 [GRCh37]
Chr3:3p22.2 |
likely benign |
| NM_001106.4(ACVR2B):c.1054C>G (p.Pro352Ala) |
single nucleotide variant |
not specified [RCV004900703] |
Chr3:38481445 [GRCh38]
Chr3:38522936 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.433C>T (p.Pro145Ser) |
single nucleotide variant |
not specified [RCV004900711] |
Chr3:38478203 [GRCh38]
Chr3:38519694 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.1254T>C (p.Ile418=) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV005172589] |
Chr3:38482470 [GRCh38]
Chr3:38523961 [GRCh37]
Chr3:3p22.2 |
likely benign |
| NM_001106.4(ACVR2B):c.666+8_666+9delinsAG |
indel |
Heterotaxy, visceral, 4, autosomal [RCV005131773] |
Chr3:38478526..38478527 [GRCh38]
Chr3:38520017..38520018 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.1402C>T (p.Arg468Cys) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV005168073] |
Chr3:38483195 [GRCh38]
Chr3:38524686 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.370+16G>A |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV005107972] |
Chr3:38477986 [GRCh38]
Chr3:38519477 [GRCh37]
Chr3:3p22.2 |
likely benign |
| NM_001106.4(ACVR2B):c.1276dup (p.Glu426fs) |
duplication |
Heterotaxy, visceral, 4, autosomal [RCV005138071] |
Chr3:38482490..38482491 [GRCh38]
Chr3:38523981..38523982 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.1056A>G (p.Pro352=) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV005177275] |
Chr3:38481447 [GRCh38]
Chr3:38522938 [GRCh37]
Chr3:3p22.2 |
likely benign |
| NM_001106.4(ACVR2B):c.1191G>C (p.Val397=) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV005179270] |
Chr3:38482314 [GRCh38]
Chr3:38523805 [GRCh37]
Chr3:3p22.2 |
likely benign |
| NM_001106.4(ACVR2B):c.811-13_811-12inv |
inversion |
Heterotaxy, visceral, 4, autosomal [RCV005180875] |
Chr3:38479665..38479666 [GRCh38]
Chr3:38521156..38521157 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.92A>T (p.Tyr31Phe) |
single nucleotide variant |
not specified [RCV005314775] |
Chr3:38477326 [GRCh38]
Chr3:38518817 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.780G>C (p.Glu260Asp) |
single nucleotide variant |
not specified [RCV005314788] |
Chr3:38479241 [GRCh38]
Chr3:38520732 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.370+5G>A |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV005396348] |
Chr3:38477975 [GRCh38]
Chr3:38519466 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.1030G>A (p.Val344Ile) |
single nucleotide variant |
Heterotaxy, visceral, 4, autosomal [RCV005358484] |
Chr3:38481421 [GRCh38]
Chr3:38522912 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.397C>T (p.Pro133Ser) |
single nucleotide variant |
not specified [RCV005314782] |
Chr3:38478167 [GRCh38]
Chr3:38519658 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.658C>G (p.Pro220Ala) |
single nucleotide variant |
not specified [RCV004900727] |
Chr3:38478510 [GRCh38]
Chr3:38520001 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NC_000003.11:g.(?_38495814)_(38991853_?)dup |
duplication |
Brugada syndrome [RCV003109525] |
Chr3:38495814..38991853 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.48C>G (p.Cys16Trp) |
single nucleotide variant |
not specified [RCV004900721] |
Chr3:38454370 [GRCh38]
Chr3:38495861 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
| NM_001106.4(ACVR2B):c.1457A>G (p.Asn486Ser) |
single nucleotide variant |
not specified [RCV004900726] |
Chr3:38483250 [GRCh38]
Chr3:38524741 [GRCh37]
Chr3:3p22.2 |
uncertain significance |
