GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3 |
copy number gain |
See cases [RCV000053638] |
Chr11:100348599..135040246 [GRCh38] Chr11:100219331..134910140 [GRCh37] Chr11:99724541..134415350 [NCBI36] Chr11:11q22.1-25 |
pathogenic |
NM_152434.2(CWF19L2):c.1434-600A>C |
single nucleotide variant |
Lung cancer [RCV000109577] |
Chr11:107418887 [GRCh38] Chr11:107289613 [GRCh37] Chr11:11q22.3 |
uncertain significance |
GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1 |
copy number loss |
See cases [RCV000138038] |
Chr11:91086659..109595582 [GRCh38] Chr11:90819827..109466308 [GRCh37] Chr11:90459475..108971518 [NCBI36] Chr11:11q14.3-22.3 |
pathogenic |
GRCh37/hg19 11q22.3(chr11:106959465-107537265)x1 |
copy number loss |
See cases [RCV000239992] |
Chr11:106959465..107537265 [GRCh37] Chr11:11q22.3 |
uncertain significance |
GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1 |
copy number loss |
See cases [RCV000510457] |
Chr11:88152458..109414650 [GRCh37] Chr11:11q14.2-22.3 |
pathogenic |
GRCh37/hg19 11q22.3(chr11:106767102-107561488)x3 |
copy number gain |
See cases [RCV000511621] |
Chr11:106767102..107561488 [GRCh37] Chr11:11q22.3 |
uncertain significance |
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) |
copy number gain |
See cases [RCV000511729] |
Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 |
copy number gain |
See cases [RCV000510881] |
Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11q22.3(chr11:107072930-107283027)x1 |
copy number loss |
See cases [RCV000511100] |
Chr11:107072930..107283027 [GRCh37] Chr11:11q22.3 |
uncertain significance |
GRCh37/hg19 11q22.2-22.3(chr11:102578709-107230611)x1 |
copy number loss |
not provided [RCV000683366] |
Chr11:102578709..107230611 [GRCh37] Chr11:11q22.2-22.3 |
likely pathogenic |
GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3 |
copy number gain |
not provided [RCV000683374] |
Chr11:71588805..116680918 [GRCh37] Chr11:11q13.4-23.3 |
pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 |
copy number gain |
not provided [RCV000737348] |
Chr11:198510..134934063 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11q14.1-23.2(chr11:80053454-113316236)x1 |
copy number loss |
not provided [RCV000737595] |
Chr11:80053454..113316236 [GRCh37] Chr11:11q14.1-23.2 |
pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 |
copy number gain |
not provided [RCV000749874] |
Chr11:70864..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11q22.3-23.3(chr11:104101411-116680918)x1 |
copy number loss |
not provided [RCV000848741] |
Chr11:104101411..116680918 [GRCh37] Chr11:11q22.3-23.3 |
pathogenic |
NM_152434.3(CWF19L2):c.2498A>G (p.His833Arg) |
single nucleotide variant |
not specified [RCV004302175] |
Chr11:107329961 [GRCh38] Chr11:107200687 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.1037C>T (p.Thr346Met) |
single nucleotide variant |
not specified [RCV004309461] |
Chr11:107429195 [GRCh38] Chr11:107299921 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.421T>G (p.Ser141Ala) |
single nucleotide variant |
not specified [RCV004286209] |
Chr11:107442968 [GRCh38] Chr11:107313694 [GRCh37] Chr11:11q22.3 |
uncertain significance |
GRCh37/hg19 11q22.3-23.3(chr11:105699599-114524876)x1 |
copy number loss |
not provided [RCV001006445] |
Chr11:105699599..114524876 [GRCh37] Chr11:11q22.3-23.3 |
pathogenic |
GRCh37/hg19 11q22.3-23.2(chr11:103320065-114349787)x1 |
copy number loss |
not provided [RCV001006439] |
Chr11:103320065..114349787 [GRCh37] Chr11:11q22.3-23.2 |
pathogenic |
Single allele |
deletion |
Intellectual disability [RCV001293382] |
Chr11:118359328..118372573 [GRCh37] Chr11:11p15.3-q23.3 |
pathogenic |
NC_000011.9:g.(?_94153285)_(111965700_?)del |
deletion |
Ataxia-telangiectasia syndrome [RCV001389105] |
Chr11:94153285..111965700 [GRCh37] Chr11:11q21-23.1 |
pathogenic |
NC_000011.9:g.104288964_134937416dup |
duplication |
Distal trisomy 11q [RCV001250234] |
Chr11:104288964..134937416 [GRCh37] Chr11:11q22.3-25 |
pathogenic |
GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1 |
copy number loss |
not provided [RCV001832892] |
Chr11:85422071..118022671 [GRCh37] Chr11:11q14.1-23.3 |
uncertain significance |
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 |
copy number gain |
MISSED ABORTION [RCV002282973] |
Chr11:32799481..134938470 [GRCh37] Chr11:11p13-q25 |
pathogenic |
GRCh37/hg19 11q22.1-22.3(chr11:101371503-109306519)x1 |
copy number loss |
not provided [RCV002472494] |
Chr11:101371503..109306519 [GRCh37] Chr11:11q22.1-22.3 |
pathogenic |
NM_152434.3(CWF19L2):c.1709A>C (p.Gln570Pro) |
single nucleotide variant |
not specified [RCV004202518] |
Chr11:107392804 [GRCh38] Chr11:107263530 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.1690G>A (p.Gly564Arg) |
single nucleotide variant |
not specified [RCV004092521] |
Chr11:107392823 [GRCh38] Chr11:107263549 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.1276G>C (p.Gly426Arg) |
single nucleotide variant |
not specified [RCV004094655] |
Chr11:107428956 [GRCh38] Chr11:107299682 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.1928A>G (p.Lys643Arg) |
single nucleotide variant |
not specified [RCV004118012] |
Chr11:107353681 [GRCh38] Chr11:107224407 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.1082T>C (p.Phe361Ser) |
single nucleotide variant |
not specified [RCV004166879] |
Chr11:107429150 [GRCh38] Chr11:107299876 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.2367A>G (p.Ile789Met) |
single nucleotide variant |
not specified [RCV004217202] |
Chr11:107334953 [GRCh38] Chr11:107205679 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.1084G>C (p.Gly362Arg) |
single nucleotide variant |
not specified [RCV004166529] |
Chr11:107429148 [GRCh38] Chr11:107299874 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.661A>G (p.Lys221Glu) |
single nucleotide variant |
not specified [RCV004076242] |
Chr11:107439093 [GRCh38] Chr11:107309819 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.2555G>C (p.Gly852Ala) |
single nucleotide variant |
not specified [RCV004100235] |
Chr11:107327040 [GRCh38] Chr11:107197766 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.1913A>G (p.Asp638Gly) |
single nucleotide variant |
not specified [RCV004150573] |
Chr11:107353696 [GRCh38] Chr11:107224422 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.276A>T (p.Glu92Asp) |
single nucleotide variant |
not specified [RCV004224562] |
Chr11:107454513 [GRCh38] Chr11:107325239 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.70C>A (p.Gln24Lys) |
single nucleotide variant |
not specified [RCV004122330] |
Chr11:107457747 [GRCh38] Chr11:107328473 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.1984A>G (p.Ile662Val) |
single nucleotide variant |
not specified [RCV004081998] |
Chr11:107353625 [GRCh38] Chr11:107224351 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.1261C>T (p.Arg421Cys) |
single nucleotide variant |
not specified [RCV004135456] |
Chr11:107428971 [GRCh38] Chr11:107299697 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.599C>T (p.Pro200Leu) |
single nucleotide variant |
not specified [RCV004145609] |
Chr11:107439155 [GRCh38] Chr11:107309881 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.2252G>A (p.Cys751Tyr) |
single nucleotide variant |
not specified [RCV004106415] |
Chr11:107336664 [GRCh38] Chr11:107207390 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.1634A>G (p.Glu545Gly) |
single nucleotide variant |
not specified [RCV004159429] |
Chr11:107392879 [GRCh38] Chr11:107263605 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.1469T>C (p.Val490Ala) |
single nucleotide variant |
not specified [RCV004175662] |
Chr11:107418252 [GRCh38] Chr11:107288978 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.2203A>G (p.Met735Val) |
single nucleotide variant |
not specified [RCV004107044] |
Chr11:107336713 [GRCh38] Chr11:107207439 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.52A>G (p.Ile18Val) |
single nucleotide variant |
not specified [RCV004114097] |
Chr11:107457765 [GRCh38] Chr11:107328491 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.44C>T (p.Ala15Val) |
single nucleotide variant |
not specified [RCV004225930] |
Chr11:107457773 [GRCh38] Chr11:107328499 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.2456C>T (p.Pro819Leu) |
single nucleotide variant |
not specified [RCV004124298] |
Chr11:107330003 [GRCh38] Chr11:107200729 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.157C>T (p.Arg53Trp) |
single nucleotide variant |
not specified [RCV004137039] |
Chr11:107455725 [GRCh38] Chr11:107326451 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.489A>T (p.Lys163Asn) |
single nucleotide variant |
not specified [RCV004222016] |
Chr11:107441584 [GRCh38] Chr11:107312310 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.2503A>G (p.Ile835Val) |
single nucleotide variant |
not specified [RCV004147266] |
Chr11:107329956 [GRCh38] Chr11:107200682 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.2288A>G (p.Gln763Arg) |
single nucleotide variant |
not specified [RCV004075356] |
Chr11:107336628 [GRCh38] Chr11:107207354 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.947A>T (p.Asp316Val) |
single nucleotide variant |
not specified [RCV004279548] |
Chr11:107429285 [GRCh38] Chr11:107300011 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.2564A>C (p.Asp855Ala) |
single nucleotide variant |
not specified [RCV004278927] |
Chr11:107327031 [GRCh38] Chr11:107197757 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.658A>G (p.Thr220Ala) |
single nucleotide variant |
not specified [RCV004270209] |
Chr11:107439096 [GRCh38] Chr11:107309822 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.1115C>T (p.Ser372Phe) |
single nucleotide variant |
not specified [RCV004248739] |
Chr11:107429117 [GRCh38] Chr11:107299843 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.2621A>G (p.Lys874Arg) |
single nucleotide variant |
not specified [RCV004253683] |
Chr11:107326974 [GRCh38] Chr11:107197700 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.1721G>T (p.Arg574Ile) |
single nucleotide variant |
not specified [RCV004251975] |
Chr11:107392792 [GRCh38] Chr11:107263518 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.83C>T (p.Ala28Val) |
single nucleotide variant |
not specified [RCV004345229] |
Chr11:107457734 [GRCh38] Chr11:107328460 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.136C>T (p.Arg46Cys) |
single nucleotide variant |
not specified [RCV004340742] |
Chr11:107455746 [GRCh38] Chr11:107326472 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.1518G>A (p.Met506Ile) |
single nucleotide variant |
not specified [RCV004341873] |
Chr11:107418203 [GRCh38] Chr11:107288929 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.1607C>T (p.Ser536Phe) |
single nucleotide variant |
not specified [RCV004339471] |
Chr11:107416219 [GRCh38] Chr11:107286945 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.2303A>G (p.Tyr768Cys) |
single nucleotide variant |
not specified [RCV004361219] |
Chr11:107336613 [GRCh38] Chr11:107207339 [GRCh37] Chr11:11q22.3 |
uncertain significance |
Single allele |
duplication |
not provided [RCV003448710] |
Chr11:102134973..134945611 [GRCh37] Chr11:11q22.2-25 |
pathogenic |
NM_152434.3(CWF19L2):c.429A>G (p.Lys143=) |
single nucleotide variant |
not provided [RCV003396059] |
Chr11:107442960 [GRCh38] Chr11:107313686 [GRCh37] Chr11:11q22.3 |
likely benign |
NM_152434.3(CWF19L2):c.201T>C (p.Ile67=) |
single nucleotide variant |
not provided [RCV003396060] |
Chr11:107455681 [GRCh38] Chr11:107326407 [GRCh37] Chr11:11q22.3 |
likely benign |
NM_152434.3(CWF19L2):c.1439C>T (p.Pro480Leu) |
single nucleotide variant |
not specified [RCV004367510] |
Chr11:107418282 [GRCh38] Chr11:107289008 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.1975A>G (p.Lys659Glu) |
single nucleotide variant |
not specified [RCV004367512] |
Chr11:107353634 [GRCh38] Chr11:107224360 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.2279T>G (p.Met760Arg) |
single nucleotide variant |
not specified [RCV004367517] |
Chr11:107336637 [GRCh38] Chr11:107207363 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.950G>T (p.Arg317Ile) |
single nucleotide variant |
not specified [RCV004367523] |
Chr11:107429282 [GRCh38] Chr11:107300008 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.2110C>T (p.Arg704Trp) |
single nucleotide variant |
not specified [RCV004367514] |
Chr11:107349029 [GRCh38] Chr11:107219755 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.2153A>G (p.His718Arg) |
single nucleotide variant |
not specified [RCV004367515] |
Chr11:107348986 [GRCh38] Chr11:107219712 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.2289G>C (p.Gln763His) |
single nucleotide variant |
not specified [RCV004367518] |
Chr11:107336627 [GRCh38] Chr11:107207353 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.2623A>G (p.Lys875Glu) |
single nucleotide variant |
not specified [RCV004367519] |
Chr11:107326972 [GRCh38] Chr11:107197698 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.611A>G (p.Asp204Gly) |
single nucleotide variant |
not specified [RCV004367520] |
Chr11:107439143 [GRCh38] Chr11:107309869 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.1461C>G (p.Ile487Met) |
single nucleotide variant |
not specified [RCV004367511] |
Chr11:107418260 [GRCh38] Chr11:107288986 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.1232A>G (p.Asn411Ser) |
single nucleotide variant |
not specified [RCV004367509] |
Chr11:107429000 [GRCh38] Chr11:107299726 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.1999A>T (p.Ser667Cys) |
single nucleotide variant |
not specified [RCV004367513] |
Chr11:107353610 [GRCh38] Chr11:107224336 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.2221G>T (p.Val741Leu) |
single nucleotide variant |
not specified [RCV004367516] |
Chr11:107336695 [GRCh38] Chr11:107207421 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.673G>A (p.Val225Ile) |
single nucleotide variant |
not specified [RCV004367521] |
Chr11:107433741 [GRCh38] Chr11:107304467 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.710A>T (p.Tyr237Phe) |
single nucleotide variant |
not specified [RCV004367522] |
Chr11:107433704 [GRCh38] Chr11:107304430 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.1694A>C (p.Lys565Thr) |
single nucleotide variant |
not specified [RCV004616168] |
Chr11:107392819 [GRCh38] Chr11:107263545 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.1819A>G (p.Lys607Glu) |
single nucleotide variant |
not specified [RCV004616166] |
Chr11:107390127 [GRCh38] Chr11:107260853 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.2465C>T (p.Ser822Phe) |
single nucleotide variant |
not specified [RCV004616167] |
Chr11:107329994 [GRCh38] Chr11:107200720 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.2341G>A (p.Ala781Thr) |
single nucleotide variant |
not specified [RCV004616170] |
Chr11:107336575 [GRCh38] Chr11:107207301 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.1411G>T (p.Asp471Tyr) |
single nucleotide variant |
not specified [RCV004616172] |
Chr11:107428821 [GRCh38] Chr11:107299547 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.2517C>G (p.His839Gln) |
single nucleotide variant |
not specified [RCV004616165] |
Chr11:107329942 [GRCh38] Chr11:107200668 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.2078G>T (p.Gly693Val) |
single nucleotide variant |
not specified [RCV004616169] |
Chr11:107353531 [GRCh38] Chr11:107224257 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.680A>T (p.Asp227Val) |
single nucleotide variant |
not specified [RCV004910971] |
Chr11:107433734 [GRCh38] Chr11:107304460 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.2296A>G (p.Met766Val) |
single nucleotide variant |
not specified [RCV004910972] |
Chr11:107336620 [GRCh38] Chr11:107207346 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.2096G>A (p.Cys699Tyr) |
single nucleotide variant |
not specified [RCV004910975] |
Chr11:107349043 [GRCh38] Chr11:107219769 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.901G>C (p.Glu301Gln) |
single nucleotide variant |
not specified [RCV004910979] |
Chr11:107429331 [GRCh38] Chr11:107300057 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.1663G>A (p.Gly555Arg) |
single nucleotide variant |
not specified [RCV004910974] |
Chr11:107392850 [GRCh38] Chr11:107263576 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.2114C>G (p.Ser705Cys) |
single nucleotide variant |
not specified [RCV004910984] |
Chr11:107349025 [GRCh38] Chr11:107219751 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.797A>G (p.Gln266Arg) |
single nucleotide variant |
not specified [RCV004910985] |
Chr11:107429435 [GRCh38] Chr11:107300161 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.2425G>A (p.Asp809Asn) |
single nucleotide variant |
not specified [RCV004910977] |
Chr11:107334895 [GRCh38] Chr11:107205621 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.1712G>A (p.Gly571Glu) |
single nucleotide variant |
not specified [RCV004910981] |
Chr11:107392801 [GRCh38] Chr11:107263527 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.692G>A (p.Ser231Asn) |
single nucleotide variant |
not specified [RCV004910978] |
Chr11:107433722 [GRCh38] Chr11:107304448 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.631C>T (p.Pro211Ser) |
single nucleotide variant |
not specified [RCV004910982] |
Chr11:107439123 [GRCh38] Chr11:107309849 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.1898A>G (p.Tyr633Cys) |
single nucleotide variant |
not specified [RCV004910976] |
Chr11:107353711 [GRCh38] Chr11:107224437 [GRCh37] Chr11:11q22.3 |
uncertain significance |
NM_152434.3(CWF19L2):c.164A>G (p.Glu55Gly) |
single nucleotide variant |
not specified [RCV004910980] |
Chr11:107455718 [GRCh38] Chr11:107326444 [GRCh37] Chr11:11q22.3 |
uncertain significance |