| GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1 |
copy number loss |
See cases [RCV000051172] |
Chr1:159479887..166895086 [GRCh38]
Chr1:159449677..166864323 [GRCh37]
Chr1:157716301..165130947 [NCBI36]
Chr1:1q23.2-24.1 |
pathogenic |
| GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3 |
copy number gain |
See cases [RCV000051854] |
Chr1:157747246..176021247 [GRCh38]
Chr1:157717036..175990383 [GRCh37]
Chr1:155983660..174257006 [NCBI36]
Chr1:1q23.1-25.1 |
pathogenic |
| GRCh38/hg38 1q23.1-23.3(chr1:156664483-160727411)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051851]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051851]|See cases [RCV000051851] |
Chr1:156664483..160727411 [GRCh38]
Chr1:156634275..160697201 [GRCh37]
Chr1:154900899..158963825 [NCBI36]
Chr1:1q23.1-23.3 |
pathogenic |
| GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3 |
copy number gain |
See cases [RCV000143515] |
Chr1:149854269..180267197 [GRCh38]
Chr1:149825831..180236332 [GRCh37]
Chr1:148092455..178502955 [NCBI36]
Chr1:1q21.2-25.2 |
pathogenic |
| NM_001098398.1(COPA):c.470A>C (p.Gln157Pro) |
single nucleotide variant |
Malignant melanoma [RCV000059957] |
Chr1:160332474 [GRCh38]
Chr1:160302264 [GRCh37]
Chr1:158568888 [NCBI36]
Chr1:1q23.2 |
not provided |
| NM_001098398.1(COPA):c.318C>T (p.Pro106=) |
single nucleotide variant |
Malignant melanoma [RCV000064254] |
Chr1:160333671 [GRCh38]
Chr1:160303461 [GRCh37]
Chr1:158570085 [NCBI36]
Chr1:1q23.2 |
not provided |
| NM_015331.2(NCSTN):c.1166C>T (p.Ser389Phe) |
single nucleotide variant |
Malignant melanoma [RCV000064255] |
Chr1:160353224 [GRCh38]
Chr1:160323014 [GRCh37]
Chr1:158589638 [NCBI36]
Chr1:1q23.2 |
not provided |
| NM_001098398.1(COPA):c.497-2810C>T |
single nucleotide variant |
Lung cancer [RCV000089834] |
Chr1:160328462 [GRCh38]
Chr1:160298252 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 |
copy number gain |
See cases [RCV000510383] |
Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) |
copy number gain |
See cases [RCV000510926] |
Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 |
copy number gain |
not provided [RCV000736295] |
Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 |
copy number gain |
not provided [RCV000736305] |
Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1q23.2-25.2(chr1:159815642-177026983)x1 |
copy number loss |
not provided [RCV000736717] |
Chr1:159815642..177026983 [GRCh37]
Chr1:1q23.2-25.2 |
pathogenic |
| GRCh37/hg19 1q23.2-23.3(chr1:159808188-161011163)x3 |
copy number gain |
not provided [RCV000846649] |
Chr1:159808188..161011163 [GRCh37]
Chr1:1q23.2-23.3 |
uncertain significance |
| GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1 |
copy number loss |
not provided [RCV000848773] |
Chr1:157321299..167391423 [GRCh37]
Chr1:1q23.1-24.2 |
pathogenic |
| NM_005598.4(NHLH1):c.106G>A (p.Gly36Arg) |
single nucleotide variant |
not provided [RCV004598934] |
Chr1:160370837 [GRCh38]
Chr1:160340627 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NC_000001.10:g.(?_130980840)_(248900000_?)dup |
duplication |
Gastrointestinal stromal tumor [RCV001300221]|Parathyroid carcinoma [RCV001341077] |
Chr1:130980840..248900000 [GRCh37]
Chr1:1q12-44 |
uncertain significance |
| NC_000001.10:g.(?_158581054)_(162750036_?)dup |
duplication |
Autoimmune interstitial lung disease-arthritis syndrome [RCV001918952]|not provided [RCV001918953] |
Chr1:158581054..162750036 [GRCh37]
Chr1:1q23.1-23.3 |
uncertain significance|no classifications from unflagged records |
| GRCh37/hg19 1q23.2-23.3(chr1:159778364-160770515)x3 |
copy number gain |
not provided [RCV002474924] |
Chr1:159778364..160770515 [GRCh37]
Chr1:1q23.2-23.3 |
uncertain significance |
| NM_005598.4(NHLH1):c.206G>C (p.Arg69Pro) |
single nucleotide variant |
not specified [RCV004239906] |
Chr1:160370937 [GRCh38]
Chr1:160340727 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_005598.4(NHLH1):c.388G>A (p.Val130Met) |
single nucleotide variant |
not specified [RCV004157532] |
Chr1:160371119 [GRCh38]
Chr1:160340909 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_005598.4(NHLH1):c.152G>C (p.Gly51Ala) |
single nucleotide variant |
not specified [RCV004184159] |
Chr1:160370883 [GRCh38]
Chr1:160340673 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_005598.4(NHLH1):c.124G>A (p.Gly42Arg) |
single nucleotide variant |
not specified [RCV004099480] |
Chr1:160370855 [GRCh38]
Chr1:160340645 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_005598.4(NHLH1):c.221C>G (p.Ala74Gly) |
single nucleotide variant |
not specified [RCV004268875] |
Chr1:160370952 [GRCh38]
Chr1:160340742 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1 |
copy number loss |
not provided [RCV003483944] |
Chr1:158001058..162858285 [GRCh37]
Chr1:1q23.1-23.3 |
likely pathogenic |
| NM_005598.4(NHLH1):c.85G>A (p.Gly29Arg) |
single nucleotide variant |
not specified [RCV004490546] |
Chr1:160370816 [GRCh38]
Chr1:160340606 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
| NM_005598.4(NHLH1):c.301C>A (p.Leu101Met) |
single nucleotide variant |
not specified [RCV004643652] |
Chr1:160371032 [GRCh38]
Chr1:160340822 [GRCh37]
Chr1:1q23.2 |
uncertain significance |
