NM_019062.2(RNF186):c.39C>G (p.Ile13Met) |
single nucleotide variant |
not specified [RCV004228875] |
Chr1:19815063 [GRCh38] Chr1:20141556 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_019062.2(RNF186):c.370G>A (p.Val124Met) |
single nucleotide variant |
not specified [RCV004129914] |
Chr1:19814732 [GRCh38] Chr1:20141225 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_019062.2(RNF186):c.644G>T (p.Cys215Phe) |
single nucleotide variant |
not specified [RCV004132243] |
Chr1:19814458 [GRCh38] Chr1:20140951 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_019062.2(RNF186):c.98C>G (p.Ser33Cys) |
single nucleotide variant |
not specified [RCV004194683] |
Chr1:19815004 [GRCh38] Chr1:20141497 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_019062.2(RNF186):c.470C>T (p.Ala157Val) |
single nucleotide variant |
not specified [RCV004193908] |
Chr1:19814632 [GRCh38] Chr1:20141125 [GRCh37] Chr1:1p36.13 |
likely benign |
GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1 |
copy number loss |
See cases [RCV000051146] |
Chr1:15385267..20980349 [GRCh38] Chr1:15711763..21306842 [GRCh37] Chr1:15584350..21179429 [NCBI36] Chr1:1p36.21-36.12 |
pathogenic |
NM_019062.2(RNF186):c.457C>T (p.Arg153Trp) |
single nucleotide variant |
not specified [RCV004124250] |
Chr1:19814645 [GRCh38] Chr1:20141138 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_019062.2(RNF186):c.608G>A (p.Arg203Gln) |
single nucleotide variant |
not specified [RCV004226183] |
Chr1:19814494 [GRCh38] Chr1:20140987 [GRCh37] Chr1:1p36.13 |
likely benign |
NM_019062.2(RNF186):c.152G>A (p.Arg51Gln) |
single nucleotide variant |
not specified [RCV004086158] |
Chr1:19814950 [GRCh38] Chr1:20141443 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_019062.2(RNF186):c.653A>G (p.Gln218Arg) |
single nucleotide variant |
not specified [RCV004165881] |
Chr1:19814449 [GRCh38] Chr1:20140942 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_019062.2(RNF186):c.679G>A (p.Ala227Thr) |
single nucleotide variant |
not specified [RCV004164021] |
Chr1:19814423 [GRCh38] Chr1:20140916 [GRCh37] Chr1:1p36.13 |
uncertain significance |
GRCh38/hg38 1p36.13-36.12(chr1:18347821-22512894)x1 |
copy number loss |
See cases [RCV000053789] |
Chr1:18347821..22512894 [GRCh38] Chr1:18674315..22839387 [GRCh37] Chr1:18546902..22711974 [NCBI36] Chr1:1p36.13-36.12 |
pathogenic |
NM_019062.2(RNF186):c.20T>C (p.Leu7Pro) |
single nucleotide variant |
not specified [RCV004176920] |
Chr1:19815082 [GRCh38] Chr1:20141575 [GRCh37] Chr1:1p36.13 |
likely benign |
NM_019062.2(RNF186):c.515T>A (p.Phe172Tyr) |
single nucleotide variant |
not specified [RCV004323420] |
Chr1:19814587 [GRCh38] Chr1:20141080 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_019062.2(RNF186):c.536G>A (p.Arg179Gln) |
single nucleotide variant |
not specified [RCV004214565] |
Chr1:19814566 [GRCh38] Chr1:20141059 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_019062.2(RNF186):c.399C>A (p.His133Gln) |
single nucleotide variant |
not specified [RCV004165243] |
Chr1:19814703 [GRCh38] Chr1:20141196 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_019062.2(RNF186):c.524C>T (p.Pro175Leu) |
single nucleotide variant |
not specified [RCV004190671] |
Chr1:19814578 [GRCh38] Chr1:20141071 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_019062.2(RNF186):c.445C>A (p.His149Asn) |
single nucleotide variant |
not specified [RCV004166678] |
Chr1:19814657 [GRCh38] Chr1:20141150 [GRCh37] Chr1:1p36.13 |
uncertain significance |
GRCh38/hg38 1p36.13-36.12(chr1:19548795-20935131)x1 |
copy number loss |
See cases [RCV000138079] |
Chr1:19548795..20935131 [GRCh38] Chr1:19875289..21261624 [GRCh37] Chr1:19747876..21134211 [NCBI36] Chr1:1p36.13-36.12 |
likely pathogenic|uncertain significance |
NM_019062.2(RNF186):c.607C>T (p.Arg203Trp) |
single nucleotide variant |
not specified [RCV004297090] |
Chr1:19814495 [GRCh38] Chr1:20140988 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_019062.2(RNF186):c.195C>G (p.Ile65Met) |
single nucleotide variant |
not specified [RCV004356515] |
Chr1:19814907 [GRCh38] Chr1:20141400 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_019062.2(RNF186):c.40T>G (p.Ser14Ala) |
single nucleotide variant |
not specified [RCV004283271] |
Chr1:19815062 [GRCh38] Chr1:20141555 [GRCh37] Chr1:1p36.13 |
uncertain significance |
GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3 |
copy number gain |
Trisomy 12p [RCV003447845] |
Chr1:99125..34026935 [GRCh38] Chr1:1p36.33-35.1 |
pathogenic |
NM_019062.2(RNF186):c.205C>T (p.Leu69Phe) |
single nucleotide variant |
not specified [RCV004446551] |
Chr1:19814897 [GRCh38] Chr1:20141390 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_019062.2(RNF186):c.283C>T (p.Leu95Phe) |
single nucleotide variant |
not specified [RCV004446553] |
Chr1:19814819 [GRCh38] Chr1:20141312 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_019062.2(RNF186):c.358C>A (p.Pro120Thr) |
single nucleotide variant |
not specified [RCV004446554] |
Chr1:19814744 [GRCh38] Chr1:20141237 [GRCh37] Chr1:1p36.13 |
uncertain significance |
GRCh38/hg38 1p36.13(chr1:19093306-20063342)x1 |
copy number loss |
See cases [RCV000053793] |
Chr1:19093306..20063342 [GRCh38] Chr1:19419800..20389835 [GRCh37] Chr1:19292387..20262422 [NCBI36] Chr1:1p36.13 |
pathogenic |
NM_019062.2(RNF186):c.298C>T (p.Arg100Cys) |
single nucleotide variant |
not specified [RCV004342430] |
Chr1:19814804 [GRCh38] Chr1:20141297 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_019062.2(RNF186):c.338G>A (p.Cys113Tyr) |
single nucleotide variant |
not specified [RCV004255532] |
Chr1:19814764 [GRCh38] Chr1:20141257 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_019062.2(RNF186):c.469G>A (p.Ala157Thr) |
single nucleotide variant |
not specified [RCV004255154] |
Chr1:19814633 [GRCh38] Chr1:20141126 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_019062.2(RNF186):c.560C>T (p.Ala187Val) |
single nucleotide variant |
not specified [RCV004356516] |
Chr1:19814542 [GRCh38] Chr1:20141035 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_019062.2(RNF186):c.380C>T (p.Ala127Val) |
single nucleotide variant |
not specified [RCV004446556] |
Chr1:19814722 [GRCh38] Chr1:20141215 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_019062.2(RNF186):c.461G>A (p.Arg154His) |
single nucleotide variant |
not specified [RCV004446557] |
Chr1:19814641 [GRCh38] Chr1:20141134 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_019062.2(RNF186):c.376C>T (p.Pro126Ser) |
single nucleotide variant |
not specified [RCV004446555] |
Chr1:19814726 [GRCh38] Chr1:20141219 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_019062.2(RNF186):c.142A>G (p.Ser48Gly) |
single nucleotide variant |
not specified [RCV004665448] |
Chr1:19814960 [GRCh38] Chr1:20141453 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_019062.2(RNF186):c.517A>C (p.Ile173Leu) |
single nucleotide variant |
not specified [RCV004665450] |
Chr1:19814585 [GRCh38] Chr1:20141078 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_019062.2(RNF186):c.151C>T (p.Arg51Trp) |
single nucleotide variant |
not specified [RCV004665449] |
Chr1:19814951 [GRCh38] Chr1:20141444 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_019062.2(RNF186):c.551T>A (p.Phe184Tyr) |
single nucleotide variant |
not specified [RCV004858470] |
Chr1:19814551 [GRCh38] Chr1:20141044 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_019062.2(RNF186):c.534A>C (p.Leu178Phe) |
single nucleotide variant |
not specified [RCV004847516] |
Chr1:19814568 [GRCh38] Chr1:20141061 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_019062.2(RNF186):c.230C>T (p.Thr77Ile) |
single nucleotide variant |
not specified [RCV004847515] |
Chr1:19814872 [GRCh38] Chr1:20141365 [GRCh37] Chr1:1p36.13 |
uncertain significance |