GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3 |
copy number gain |
See cases [RCV000052405] |
Chr16:56883592..71279975 [GRCh38] Chr16:56917504..71313878 [GRCh37] Chr16:55475005..69871379 [NCBI36] Chr16:16q13-22.2 |
pathogenic |
GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3 |
copy number gain |
See cases [RCV000052408] |
Chr16:58456122..74708723 [GRCh38] Chr16:58490026..74742621 [GRCh37] Chr16:57047527..73300122 [NCBI36] Chr16:16q21-23.1 |
pathogenic |
GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3 |
copy number gain |
See cases [RCV000052421] |
Chr16:65313395..90081985 [GRCh38] Chr16:65347298..90148393 [GRCh37] Chr16:63904799..88675894 [NCBI36] Chr16:16q21-24.3 |
pathogenic |
GRCh38/hg38 16q21-22.1(chr16:63318997-70555249)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053334]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053334]|See cases [RCV000053334] |
Chr16:63318997..70555249 [GRCh38] Chr16:63352901..70589152 [GRCh37] Chr16:61910402..69146653 [NCBI36] Chr16:16q21-22.1 |
pathogenic |
NM_018667.3(SMPD3):c.1955A>T (p.Glu652Val) |
single nucleotide variant |
Malignant melanoma [RCV000063081] |
Chr16:68361219 [GRCh38] Chr16:68395122 [GRCh37] Chr16:66952623 [NCBI36] Chr16:16q22.1 |
not provided |
GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3 |
copy number gain |
See cases [RCV000135863] |
Chr16:62925929..84585795 [GRCh38] Chr16:62959833..84619401 [GRCh37] Chr16:61517334..83176902 [NCBI36] Chr16:16q21-24.1 |
pathogenic |
GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3 |
copy number gain |
See cases [RCV000139426] |
Chr16:65511483..90096995 [GRCh38] Chr16:65545386..90163403 [GRCh37] Chr16:64102887..88690904 [NCBI36] Chr16:16q21-24.3 |
pathogenic |
GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3 |
copy number gain |
See cases [RCV000142578] |
Chr16:64389378..90081985 [GRCh38] Chr16:64423281..90148393 [GRCh37] Chr16:62980782..88675894 [NCBI36] Chr16:16q21-24.3 |
pathogenic|likely pathogenic |
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 |
copy number gain |
See cases [RCV000143425] |
Chr16:52899183..90088654 [GRCh38] Chr16:52933095..90155062 [GRCh37] Chr16:51490596..88682563 [NCBI36] Chr16:16q12.2-24.3 |
pathogenic |
GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3 |
copy number gain |
See cases [RCV000143752] |
Chr16:49685521..68401712 [GRCh38] Chr16:49719432..68435615 [GRCh37] Chr16:48276933..66993116 [NCBI36] Chr16:16q12.1-22.1 |
pathogenic |
GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3 |
copy number gain |
See cases [RCV000143742] |
Chr16:65957829..83611443 [GRCh38] Chr16:65991732..83645048 [GRCh37] Chr16:64549233..82202549 [NCBI36] Chr16:16q21-23.3 |
pathogenic |
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 |
copy number loss |
Breast ductal adenocarcinoma [RCV000207138] |
Chr16:46615804..90142285 [GRCh37] Chr16:16q11.2-24.3 |
uncertain significance |
GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1 |
copy number loss |
Breast ductal adenocarcinoma [RCV000207067] |
Chr16:55359026..70884455 [GRCh37] Chr16:16q12.2-22.2 |
likely pathogenic|uncertain significance |
Single allele |
complex |
Breast ductal adenocarcinoma [RCV000207314] |
Chr16:56368689..90141355 [GRCh37] Chr16:16q12.2-24.3 |
uncertain significance |
GRCh37/hg19 16q22.1(chr16:67654566-68404073)x1 |
copy number loss |
See cases [RCV000449234] |
Chr16:67654566..68404073 [GRCh37] Chr16:16q22.1 |
likely pathogenic |
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 |
copy number gain |
See cases [RCV000446110] |
Chr16:46464488..90155062 [GRCh37] Chr16:16q11.2-24.3 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 |
copy number gain |
See cases [RCV000446684] |
Chr16:69193..90274381 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 |
copy number gain |
See cases [RCV000511622] |
Chr16:9273328..89548493 [GRCh37] Chr16:16p13.2-q24.3 |
uncertain significance |
NM_018667.4(SMPD3):c.1280G>A (p.Cys427Tyr) |
single nucleotide variant |
not specified [RCV004297421] |
Chr16:68370902 [GRCh38] Chr16:68404805 [GRCh37] Chr16:16q22.1 |
uncertain significance |
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 |
copy number gain |
See cases [RCV000512138] |
Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 |
copy number loss |
Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429] |
Chr16:46497599..90354753 [GRCh37] Chr16:16q11.2-24.3 |
drug response |
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 |
copy number loss |
Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435] |
Chr16:46455960..90354753 [GRCh37] Chr16:16q11.2-24.3 |
drug response |
GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3 |
copy number gain |
See cases [RCV000512511] |
Chr16:57051473..89797669 [GRCh37] Chr16:16q13-24.3 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) |
copy number gain |
See cases [RCV000511296] |
Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3 |
copy number gain |
not provided [RCV000683820] |
Chr16:54416050..72453266 [GRCh37] Chr16:16q12.2-22.2 |
pathogenic |
GRCh37/hg19 16q22.1(chr16:68417085-68914451)x3 |
copy number gain |
not provided [RCV000683826] |
Chr16:68417085..68914451 [GRCh37] Chr16:16q22.1 |
uncertain significance |
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 |
copy number gain |
not provided [RCV000738917] |
Chr16:88165..90163275 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 |
copy number gain |
not provided [RCV000738918] |
Chr16:88165..90274695 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 |
copy number gain |
not provided [RCV000738915] |
Chr16:61451..90294632 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16q22.1(chr16:68395161-68442906)x3 |
copy number gain |
not provided [RCV000739199] |
Chr16:68395161..68442906 [GRCh37] Chr16:16q22.1 |
benign |
GRCh37/hg19 16q21-22.1(chr16:65669673-70180183)x1 |
copy number loss |
not provided [RCV001006797] |
Chr16:65669673..70180183 [GRCh37] Chr16:16q21-22.1 |
pathogenic |
NC_000016.9:g.(?_68349883)_(68732303_?)del |
deletion |
not provided [RCV003107474] |
Chr16:68349883..68732303 [GRCh37] Chr16:16q22.1 |
pathogenic |
NM_018667.4(SMPD3):c.913G>A (p.Gly305Arg) |
single nucleotide variant |
not specified [RCV004328390] |
Chr16:68371269 [GRCh38] Chr16:68405172 [GRCh37] Chr16:16q22.1 |
uncertain significance |
GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3 |
copy number gain |
not provided [RCV001249359] |
Chr16:61524229..90155062 [GRCh37] Chr16:16q21-24.3 |
not provided |
NM_018667.4(SMPD3):c.1814G>A (p.Arg605His) |
single nucleotide variant |
not specified [RCV004684060] |
Chr16:68361655 [GRCh38] Chr16:68395558 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_018667.4(SMPD3):c.1334G>A (p.Gly445Glu) |
single nucleotide variant |
not specified [RCV004684061] |
Chr16:68365082 [GRCh38] Chr16:68398985 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NC_000016.9:g.(?_66545871)_(72146396_?)dup |
duplication |
Dyskeratosis congenita, autosomal dominant 6 [RCV001900384]|Immunodeficiency [RCV001900385]|not provided [RCV001900386] |
Chr16:66545871..72146396 [GRCh37] Chr16:16q21-22.2 |
uncertain significance |
GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3 |
copy number gain |
not provided [RCV002221458] |
Chr16:46503968..90155062 [GRCh37] Chr16:16q11.2-24.3 |
pathogenic |
NC_000016.9:g.(?_65821800)_(72146396_?)del |
deletion |
Dyskeratosis congenita, autosomal dominant 6 [RCV003122496] |
Chr16:65821800..72146396 [GRCh37] Chr16:16q21-22.2 |
uncertain significance |
NM_018667.4(SMPD3):c.43G>A (p.Ala15Thr) |
single nucleotide variant |
not specified [RCV004212947] |
Chr16:68372139 [GRCh38] Chr16:68406042 [GRCh37] Chr16:16q22.1 |
uncertain significance |
GRCh37/hg19 16q22.1(chr16:68326200-68970975)x3 |
copy number gain |
not provided [RCV002472657] |
Chr16:68326200..68970975 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_018667.4(SMPD3):c.1961A>C (p.Glu654Ala) |
single nucleotide variant |
not specified [RCV004081408] |
Chr16:68361213 [GRCh38] Chr16:68395116 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_018667.4(SMPD3):c.1360G>A (p.Val454Ile) |
single nucleotide variant |
not specified [RCV004197098] |
Chr16:68365056 [GRCh38] Chr16:68398959 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_018667.4(SMPD3):c.748G>A (p.Glu250Lys) |
single nucleotide variant |
not specified [RCV004088214] |
Chr16:68371434 [GRCh38] Chr16:68405337 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_018667.4(SMPD3):c.1177G>A (p.Gly393Ser) |
single nucleotide variant |
not specified [RCV004183945] |
Chr16:68371005 [GRCh38] Chr16:68404908 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_018667.4(SMPD3):c.191C>T (p.Thr64Met) |
single nucleotide variant |
not specified [RCV004240047] |
Chr16:68371991 [GRCh38] Chr16:68405894 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_018667.4(SMPD3):c.1675G>A (p.Asp559Asn) |
single nucleotide variant |
not specified [RCV004221569] |
Chr16:68363530 [GRCh38] Chr16:68397433 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_018667.4(SMPD3):c.1415G>A (p.Arg472Gln) |
single nucleotide variant |
not specified [RCV004192854] |
Chr16:68364891 [GRCh38] Chr16:68398794 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_018667.4(SMPD3):c.635A>G (p.Tyr212Cys) |
single nucleotide variant |
not specified [RCV004200721] |
Chr16:68371547 [GRCh38] Chr16:68405450 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_018667.4(SMPD3):c.824C>G (p.Pro275Arg) |
single nucleotide variant |
not specified [RCV004204361] |
Chr16:68371358 [GRCh38] Chr16:68405261 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_018667.4(SMPD3):c.872G>A (p.Ser291Asn) |
single nucleotide variant |
not specified [RCV004174935] |
Chr16:68371310 [GRCh38] Chr16:68405213 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_018667.4(SMPD3):c.1610G>A (p.Arg537His) |
single nucleotide variant |
not specified [RCV004104401] |
Chr16:68363812 [GRCh38] Chr16:68397715 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_018667.4(SMPD3):c.98G>A (p.Arg33Gln) |
single nucleotide variant |
not specified [RCV004087149] |
Chr16:68372084 [GRCh38] Chr16:68405987 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_018667.4(SMPD3):c.1784G>A (p.Arg595Gln) |
single nucleotide variant |
not specified [RCV004159284] |
Chr16:68361685 [GRCh38] Chr16:68395588 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_018667.4(SMPD3):c.895C>T (p.Arg299Trp) |
single nucleotide variant |
not specified [RCV004097855] |
Chr16:68371287 [GRCh38] Chr16:68405190 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_018667.4(SMPD3):c.757G>A (p.Gly253Ser) |
single nucleotide variant |
not specified [RCV004092811] |
Chr16:68371425 [GRCh38] Chr16:68405328 [GRCh37] Chr16:16q22.1 |
likely benign |
NM_018667.4(SMPD3):c.1285G>A (p.Asp429Asn) |
single nucleotide variant |
not specified [RCV004160946] |
Chr16:68370897 [GRCh38] Chr16:68404800 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_018667.4(SMPD3):c.1003G>A (p.Ala335Thr) |
single nucleotide variant |
not specified [RCV004219450] |
Chr16:68371179 [GRCh38] Chr16:68405082 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_018667.4(SMPD3):c.1248G>A (p.Met416Ile) |
single nucleotide variant |
not specified [RCV004189211] |
Chr16:68370934 [GRCh38] Chr16:68404837 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_018667.4(SMPD3):c.716C>G (p.Pro239Arg) |
single nucleotide variant |
not specified [RCV004210408] |
Chr16:68371466 [GRCh38] Chr16:68405369 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_018667.4(SMPD3):c.593G>A (p.Arg198Gln) |
single nucleotide variant |
not specified [RCV004241350] |
Chr16:68371589 [GRCh38] Chr16:68405492 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_018667.4(SMPD3):c.962G>A (p.Ser321Asn) |
single nucleotide variant |
not specified [RCV004096366] |
Chr16:68371220 [GRCh38] Chr16:68405123 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_018667.4(SMPD3):c.679G>C (p.Gly227Arg) |
single nucleotide variant |
not specified [RCV004074570] |
Chr16:68371503 [GRCh38] Chr16:68405406 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_018667.4(SMPD3):c.736C>A (p.Arg246Ser) |
single nucleotide variant |
not specified [RCV004294137] |
Chr16:68371446 [GRCh38] Chr16:68405349 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_018667.4(SMPD3):c.476G>A (p.Arg159His) |
single nucleotide variant |
not specified [RCV004266019] |
Chr16:68371706 [GRCh38] Chr16:68405609 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_018667.4(SMPD3):c.724G>T (p.Ala242Ser) |
single nucleotide variant |
not specified [RCV004272246] |
Chr16:68371458 [GRCh38] Chr16:68405361 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_018667.4(SMPD3):c.992A>G (p.Lys331Arg) |
single nucleotide variant |
not specified [RCV004277014] |
Chr16:68371190 [GRCh38] Chr16:68405093 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_018667.4(SMPD3):c.737G>A (p.Arg246His) |
single nucleotide variant |
not specified [RCV004345337] |
Chr16:68371445 [GRCh38] Chr16:68405348 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_018667.4(SMPD3):c.1487C>T (p.Ala496Val) |
single nucleotide variant |
not specified [RCV004362056] |
Chr16:68364819 [GRCh38] Chr16:68398722 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_018667.4(SMPD3):c.653G>A (p.Arg218Gln) |
single nucleotide variant |
not specified [RCV004350204] |
Chr16:68371529 [GRCh38] Chr16:68405432 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_018667.4(SMPD3):c.439A>C (p.Thr147Pro) |
single nucleotide variant |
not specified [RCV004338379] |
Chr16:68371743 [GRCh38] Chr16:68405646 [GRCh37] Chr16:16q22.1 |
uncertain significance |
GRCh37/hg19 16q22.1(chr16:67498380-68754276)x3 |
copy number gain |
not provided [RCV003485117] |
Chr16:67498380..68754276 [GRCh37] Chr16:16q22.1 |
uncertain significance |
GRCh37/hg19 16q22.1(chr16:68292285-69424236)x3 |
copy number gain |
not provided [RCV003485118] |
Chr16:68292285..69424236 [GRCh37] Chr16:16q22.1 |
uncertain significance |
GRCh37/hg19 16q22.1(chr16:67583728-69977397)x3 |
copy number gain |
not specified [RCV003987175] |
Chr16:67583728..69977397 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_018667.4(SMPD3):c.160T>A (p.Cys54Ser) |
single nucleotide variant |
not specified [RCV004462037] |
Chr16:68372022 [GRCh38] Chr16:68405925 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_018667.4(SMPD3):c.487G>A (p.Ala163Thr) |
single nucleotide variant |
not specified [RCV004462042] |
Chr16:68371695 [GRCh38] Chr16:68405598 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_018667.4(SMPD3):c.604G>A (p.Gly202Arg) |
single nucleotide variant |
not specified [RCV004462043] |
Chr16:68371578 [GRCh38] Chr16:68405481 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_018667.4(SMPD3):c.1016G>A (p.Arg339Gln) |
single nucleotide variant |
not specified [RCV004462033] |
Chr16:68371166 [GRCh38] Chr16:68405069 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_018667.4(SMPD3):c.1187G>A (p.Gly396Asp) |
single nucleotide variant |
not specified [RCV004462035] |
Chr16:68370995 [GRCh38] Chr16:68404898 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_018667.4(SMPD3):c.155C>T (p.Pro52Leu) |
single nucleotide variant |
not specified [RCV004462036] |
Chr16:68372027 [GRCh38] Chr16:68405930 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_018667.4(SMPD3):c.44C>T (p.Ala15Val) |
single nucleotide variant |
not specified [RCV004462041] |
Chr16:68372138 [GRCh38] Chr16:68406041 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_018667.4(SMPD3):c.743G>A (p.Gly248Asp) |
single nucleotide variant |
not specified [RCV004462045] |
Chr16:68371439 [GRCh38] Chr16:68405342 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_018667.4(SMPD3):c.1027G>A (p.Glu343Lys) |
single nucleotide variant |
not specified [RCV004462034] |
Chr16:68371155 [GRCh38] Chr16:68405058 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_018667.4(SMPD3):c.1666G>A (p.Gly556Ser) |
single nucleotide variant |
not specified [RCV004462038] |
Chr16:68363539 [GRCh38] Chr16:68397442 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_018667.4(SMPD3):c.295C>T (p.Arg99Trp) |
single nucleotide variant |
not specified [RCV004462039] |
Chr16:68371887 [GRCh38] Chr16:68405790 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_018667.4(SMPD3):c.422T>C (p.Val141Ala) |
single nucleotide variant |
not specified [RCV004462040] |
Chr16:68371760 [GRCh38] Chr16:68405663 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_018667.4(SMPD3):c.628G>C (p.Val210Leu) |
single nucleotide variant |
not specified [RCV004462044] |
Chr16:68371554 [GRCh38] Chr16:68405457 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_018667.4(SMPD3):c.778G>A (p.Asp260Asn) |
single nucleotide variant |
not specified [RCV004462046] |
Chr16:68371404 [GRCh38] Chr16:68405307 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_018667.4(SMPD3):c.299T>G (p.Leu100Arg) |
single nucleotide variant |
not specified [RCV004670204] |
Chr16:68371883 [GRCh38] Chr16:68405786 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_018667.4(SMPD3):c.296G>A (p.Arg99Gln) |
single nucleotide variant |
not specified [RCV004670205] |
Chr16:68371886 [GRCh38] Chr16:68405789 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NC_000016.9:g.(?_48799549)_(70756330_?)dup |
duplication |
Chromosome 16q12 duplication syndrome [RCV004595820] |
Chr16:48799549..70756330 [GRCh37] Chr16:16q12.1-22.1 |
likely pathogenic |
NM_018667.4(SMPD3):c.1903G>A (p.Gly635Ser) |
single nucleotide variant |
not specified [RCV004670201] |
Chr16:68361271 [GRCh38] Chr16:68395174 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_018667.4(SMPD3):c.766C>T (p.Pro256Ser) |
single nucleotide variant |
not specified [RCV004670202] |
Chr16:68371416 [GRCh38] Chr16:68405319 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_018667.4(SMPD3):c.1783C>T (p.Arg595Trp) |
single nucleotide variant |
not specified [RCV004670200] |
Chr16:68361686 [GRCh38] Chr16:68395589 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_018667.4(SMPD3):c.698C>G (p.Pro233Arg) |
single nucleotide variant |
not specified [RCV004862664] |
Chr16:68371484 [GRCh38] Chr16:68405387 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_018667.4(SMPD3):c.988G>T (p.Val330Leu) |
single nucleotide variant |
not specified [RCV004862662] |
Chr16:68371194 [GRCh38] Chr16:68405097 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_018667.4(SMPD3):c.142C>T (p.Arg48Trp) |
single nucleotide variant |
not specified [RCV004862663] |
Chr16:68372040 [GRCh38] Chr16:68405943 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_018667.4(SMPD3):c.1931T>C (p.Met644Thr) |
single nucleotide variant |
not specified [RCV004862665] |
Chr16:68361243 [GRCh38] Chr16:68395146 [GRCh37] Chr16:16q22.1 |
uncertain significance |
GRCh37/hg19 16q21-24.1(chr16:62746020-84485022)x3 |
copy number gain |
not provided [RCV004819314] |
Chr16:62746020..84485022 [GRCh37] Chr16:16q21-24.1 |
pathogenic |
NM_018667.4(SMPD3):c.554G>C (p.Ser185Thr) |
single nucleotide variant |
not specified [RCV004865399] |
Chr16:68371628 [GRCh38] Chr16:68405531 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_018667.4(SMPD3):c.866C>T (p.Ser289Leu) |
single nucleotide variant |
not specified [RCV004865400] |
Chr16:68371316 [GRCh38] Chr16:68405219 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_018667.4(SMPD3):c.1372G>A (p.Ala458Thr) |
single nucleotide variant |
not specified [RCV004865396] |
Chr16:68365044 [GRCh38] Chr16:68398947 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_018667.4(SMPD3):c.725C>A (p.Ala242Asp) |
single nucleotide variant |
not specified [RCV004865395] |
Chr16:68371457 [GRCh38] Chr16:68405360 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_018667.4(SMPD3):c.836C>T (p.Thr279Met) |
single nucleotide variant |
not specified [RCV004865397] |
Chr16:68371346 [GRCh38] Chr16:68405249 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_018667.4(SMPD3):c.143G>A (p.Arg48Gln) |
single nucleotide variant |
not specified [RCV004865398] |
Chr16:68372039 [GRCh38] Chr16:68405942 [GRCh37] Chr16:16q22.1 |
uncertain significance |
NM_018667.4(SMPD3):c.1659C>G (p.Asp553Glu) |
single nucleotide variant |
not specified [RCV004865401] |
Chr16:68363546 [GRCh38] Chr16:68397449 [GRCh37] Chr16:16q22.1 |
uncertain significance |