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_020765.3(UBR4):c.70G>C (p.Asp24His) |
single nucleotide variant |
not specified [RCV004603398] |
Chr1:19210179 [GRCh38] Chr1:19536673 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_020765.3(UBR4):c.47C>T (p.Pro16Leu) |
single nucleotide variant |
not specified [RCV004206551] |
Chr1:19210202 [GRCh38] Chr1:19536696 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_020765.3(UBR4):c.76A>G (p.Thr26Ala) |
single nucleotide variant |
not specified [RCV004212128] |
Chr1:19210173 [GRCh38] Chr1:19536667 [GRCh37] Chr1:1p36.13 |
uncertain significance |
GRCh38/hg38 1p36.21-36.13(chr1:15681812-19662339)x1 |
copy number loss |
See cases [RCV000138070] |
Chr1:15681812..19662339 [GRCh38] Chr1:16008307..19988832 [GRCh37] Chr1:15880894..19861419 [NCBI36] Chr1:1p36.21-36.13 |
pathogenic |
GRCh38/hg38 1p36.13(chr1:19169253-19797307)x3 |
copy number gain |
See cases [RCV000141322] |
Chr1:19169253..19797307 [GRCh38] Chr1:19495747..20123800 [GRCh37] Chr1:19368334..19996387 [NCBI36] Chr1:1p36.13 |
likely benign |
NM_020765.3(UBR4):c.56C>G (p.Pro19Arg) |
single nucleotide variant |
not specified [RCV004282583] |
Chr1:19210193 [GRCh38] Chr1:19536687 [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 |
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 |
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_020765.3(UBR4):c.-4G>A |
single nucleotide variant |
UBR4-related disorder [RCV003954103]|not provided [RCV003412852] |
Chr1:19210252 [GRCh38] Chr1:19536746 [GRCh37] Chr1:1p36.13 |
benign |
NM_020765.3(UBR4):c.31G>A (p.Ala11Thr) |
single nucleotide variant |
not specified [RCV004477162] |
Chr1:19210218 [GRCh38] Chr1:19536712 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_020765.3(UBR4):c.40C>T (p.Pro14Ser) |
single nucleotide variant |
not specified [RCV004477169] |
Chr1:19210209 [GRCh38] Chr1:19536703 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_020765.3(UBR4):c.152A>C (p.Gln51Pro) |
single nucleotide variant |
not specified [RCV004477152] |
Chr1:19210097 [GRCh38] Chr1:19536591 [GRCh37] Chr1:1p36.13 |
uncertain significance |
NM_020765.3(UBR4):c.19G>C (p.Glu7Gln) |
single nucleotide variant |
not specified [RCV004677914] |
Chr1:19210230 [GRCh38] Chr1:19536724 [GRCh37] Chr1:1p36.13 |
uncertain significance |
GRCh38/hg38 1p36.13(chr1:19169253-19415934)x1 |
copy number loss |
See cases [RCV000140822] |
Chr1:19169253..19415934 [GRCh38] Chr1:19495747..19742428 [GRCh37] Chr1:19368334..19615015 [NCBI36] Chr1:1p36.13 |
uncertain significance |