GRCh38/hg38 5q14.3-21.1(chr5:87376883-101524443)x1 |
copy number loss |
See cases [RCV000050945] |
Chr5:87376883..101524443 [GRCh38] Chr5:86672700..100860147 [GRCh37] Chr5:86708456..100888046 [NCBI36] Chr5:5q14.3-21.1 |
pathogenic |
GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3 |
copy number gain |
See cases [RCV000051839] |
Chr5:74163186..110809453 [GRCh38] Chr5:73459011..110145153 [GRCh37] Chr5:73494767..110173052 [NCBI36] Chr5:5q13.3-22.1 |
pathogenic |
GRCh38/hg38 5q15-22.3(chr5:96454445-114050905)x3 |
copy number gain |
See cases [RCV000051841] |
Chr5:96454445..114050905 [GRCh38] Chr5:95790149..113386602 [GRCh37] Chr5:95815905..113414501 [NCBI36] Chr5:5q15-22.3 |
pathogenic |
GRCh38/hg38 5q15(chr5:93405010-97716265)x3 |
copy number gain |
See cases [RCV000053285] |
Chr5:93405010..97716265 [GRCh38] Chr5:92740716..97051969 [GRCh37] Chr5:92766472..97077725 [NCBI36] Chr5:5q15 |
uncertain significance |
GRCh38/hg38 5q14.3-21.2(chr5:89081352-104687248)x1 |
copy number loss |
See cases [RCV000053516] |
Chr5:89081352..104687248 [GRCh38] Chr5:88377169..104022949 [GRCh37] Chr5:88412925..104050848 [NCBI36] Chr5:5q14.3-21.2 |
pathogenic |
GRCh38/hg38 5q14.3-15(chr5:91386552-98365880)x1 |
copy number loss |
See cases [RCV000053519] |
Chr5:91386552..98365880 [GRCh38] Chr5:90682369..97701584 [GRCh37] Chr5:90718125..97729488 [NCBI36] Chr5:5q14.3-15 |
pathogenic |
GRCh38/hg38 5q14.3-21.1(chr5:85966055-101335711)x1 |
copy number loss |
See cases [RCV000135748] |
Chr5:85966055..101335711 [GRCh38] Chr5:85261873..100671415 [GRCh37] Chr5:85297629..100699314 [NCBI36] Chr5:5q14.3-21.1 |
pathogenic |
GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1 |
copy number loss |
See cases [RCV000139893] |
Chr5:90374606..128076423 [GRCh38] Chr5:89670423..127412115 [GRCh37] Chr5:89706179..127440014 [NCBI36] Chr5:5q14.3-23.3 |
pathogenic |
GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1 |
copy number loss |
See cases [RCV000139656] |
Chr5:84603580..111435081 [GRCh38] Chr5:83899398..110770779 [GRCh37] Chr5:83935154..110798678 [NCBI36] Chr5:5q14.3-22.1 |
pathogenic |
GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1 |
copy number loss |
See cases [RCV000141252] |
Chr5:92899734..119614119 [GRCh38] Chr5:92235441..118949814 [GRCh37] Chr5:92261197..118977713 [NCBI36] Chr5:5q14.3-23.1 |
pathogenic |
GRCh38/hg38 5q15-22.2(chr5:93193104-113287795)x1 |
copy number loss |
See cases [RCV000143249] |
Chr5:93193104..113287795 [GRCh38] Chr5:92528810..112623492 [GRCh37] Chr5:92554566..112651391 [NCBI36] Chr5:5q15-22.2 |
pathogenic |
GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1 |
copy number loss |
See cases [RCV000143746] |
Chr5:91411708..131319563 [GRCh38] Chr5:90707525..130655256 [GRCh37] Chr5:90743281..130683155 [NCBI36] Chr5:5q14.3-31.1 |
pathogenic |
NM_001750.7(CAST):c.730dup (p.Ile244fs) |
duplication |
Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome [RCV000169750] |
Chr5:96737877..96737878 [GRCh38] Chr5:96073581..96073582 [GRCh37] Chr5:5q15 |
pathogenic|not provided |
NM_001750.7(CAST):c.1873del (p.Val625fs) |
deletion |
Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome [RCV000169752] |
Chr5:96762313 [GRCh38] Chr5:96098017 [GRCh37] Chr5:5q15 |
pathogenic|not provided |
NM_001750.7(CAST):c.547A>T (p.Lys183Ter) |
single nucleotide variant |
Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome [RCV000169751] |
Chr5:96729723 [GRCh38] Chr5:96065427 [GRCh37] Chr5:5q15 |
pathogenic|not provided |
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 |
copy number gain |
not provided [RCV000487658] |
Chr5:94844077..178830410 [GRCh37] Chr5:5q15-35.3 |
likely benign |
NM_001750.7(CAST):c.1472G>C (p.Cys491Ser) |
single nucleotide variant |
Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome [RCV001554830]|not provided [RCV001709743] |
Chr5:96750630 [GRCh38] Chr5:96086334 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.2041A>G (p.Lys681Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003200573] |
Chr5:96766056 [GRCh38] Chr5:96101760 [GRCh37] Chr5:5q15 |
uncertain significance |
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) |
copy number gain |
See cases [RCV000510723] |
Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
NM_001750.7(CAST):c.2037+26_2037+28del |
deletion |
not provided [RCV001692099]|not specified [RCV000454841] |
Chr5:96765328..96765330 [GRCh38] Chr5:96101032..96101034 [GRCh37] Chr5:5q15 |
benign |
NC_000005.9:g.(?_86400000)_(154000000_?)del |
deletion |
Familial adenomatous polyposis 1 [RCV002231249]|Hereditary cancer-predisposing syndrome [RCV000554476] |
Chr5:86400000..154000000 [GRCh37] Chr5:5q14.3-33.2 |
pathogenic |
GRCh37/hg19 5q15-21.2(chr5:95049966-103537589)x1 |
copy number loss |
See cases [RCV000510548] |
Chr5:95049966..103537589 [GRCh37] Chr5:5q15-21.2 |
likely pathogenic |
GRCh37/hg19 5q15(chr5:95344459-96069761)x3 |
copy number gain |
See cases [RCV000510669] |
Chr5:95344459..96069761 [GRCh37] Chr5:5q15 |
uncertain significance |
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 |
copy number loss |
See cases [RCV000511978] |
Chr5:17628741..176575720 [GRCh37] Chr5:5p15.1-q35.2 |
pathogenic |
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 |
copy number gain |
See cases [RCV000512039] |
Chr5:113577..180719789 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
NM_001750.7(CAST):c.2032G>C (p.Val678Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003256706] |
Chr5:96765320 [GRCh38] Chr5:96101024 [GRCh37] Chr5:5q15 |
uncertain significance |
GRCh37/hg19 5q14.3-21.3(chr5:91504101-104858348)x1 |
copy number loss |
not provided [RCV000682580] |
Chr5:91504101..104858348 [GRCh37] Chr5:5q14.3-21.3 |
pathogenic |
NM_001750.7(CAST):c.1626+111A>G |
single nucleotide variant |
not provided [RCV001540306] |
Chr5:96754272 [GRCh38] Chr5:96089976 [GRCh37] Chr5:5q15 |
benign |
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 |
copy number gain |
not provided [RCV000744323] |
Chr5:25328..180693344 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 |
copy number gain |
not provided [RCV000744317] |
Chr5:13648..180905029 [GRCh37] Chr5:5p15.33-q35.3 |
pathogenic |
NM_001750.7(CAST):c.1332+246A>T |
single nucleotide variant |
not provided [RCV001610228] |
Chr5:96747638 [GRCh38] Chr5:96083342 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.168A>G (p.Gln56=) |
single nucleotide variant |
Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome [RCV001554829]|not provided [RCV001615332] |
Chr5:96695865 [GRCh38] Chr5:96031569 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.1525-106G>A |
single nucleotide variant |
Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome [RCV001554831]|not provided [RCV001685529] |
Chr5:96753954 [GRCh38] Chr5:96089658 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.631-96A>G |
single nucleotide variant |
not provided [RCV001690503] |
Chr5:96736076 [GRCh38] Chr5:96071780 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.76-220T>C |
single nucleotide variant |
not provided [RCV001609531] |
Chr5:96675319 [GRCh38] Chr5:96011023 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.1835A>G (p.Lys612Arg) |
single nucleotide variant |
not provided [RCV000881207] |
Chr5:96762275 [GRCh38] Chr5:96097979 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.663G>T (p.Val221=) |
single nucleotide variant |
not provided [RCV000965688] |
Chr5:96736204 [GRCh38] Chr5:96071908 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.2103C>T (p.Tyr701=) |
single nucleotide variant |
not provided [RCV000965689] |
Chr5:96766118 [GRCh38] Chr5:96101822 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.378+9T>C |
single nucleotide variant |
not provided [RCV000893553] |
Chr5:96727539 [GRCh38] Chr5:96063243 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.1178G>A (p.Arg393His) |
single nucleotide variant |
Inborn genetic diseases [RCV002548372]|not provided [RCV000973370] |
Chr5:96742734 [GRCh38] Chr5:96078438 [GRCh37] Chr5:5q15 |
likely benign|uncertain significance |
NM_001750.7(CAST):c.477C>T (p.Asn159=) |
single nucleotide variant |
not provided [RCV000929369] |
Chr5:96729653 [GRCh38] Chr5:96065357 [GRCh37] Chr5:5q15 |
likely benign |
NM_001750.7(CAST):c.2181T>G (p.Pro727=) |
single nucleotide variant |
not provided [RCV000880240] |
Chr5:96767912 [GRCh38] Chr5:96103616 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.1283C>T (p.Thr428Met) |
single nucleotide variant |
not provided [RCV000973371] |
Chr5:96746424 [GRCh38] Chr5:96082128 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.693G>A (p.Ser231=) |
single nucleotide variant |
not provided [RCV000888228] |
Chr5:96736234 [GRCh38] Chr5:96071938 [GRCh37] Chr5:5q15 |
benign |
GRCh37/hg19 5q15(chr5:96097916-96840263)x3 |
copy number gain |
not provided [RCV000848397] |
Chr5:96097916..96840263 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_001750.7(CAST):c.1834-130T>C |
single nucleotide variant |
not provided [RCV001643506] |
Chr5:96762144 [GRCh38] Chr5:96097848 [GRCh37] Chr5:5q15 |
benign |
Single allele |
deletion |
Neurodevelopmental disorder [RCV000787436] |
Chr5:14685137..149511942 [GRCh37] Chr5:5p15.2-q32 |
uncertain significance |
GRCh37/hg19 5q15(chr5:95335480-97832367)x3 |
copy number gain |
not provided [RCV000848836] |
Chr5:95335480..97832367 [GRCh37] Chr5:5q15 |
uncertain significance |
GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3 |
copy number gain |
not provided [RCV001005683] |
Chr5:72790061..97478870 [GRCh37] Chr5:5q13.2-15 |
pathogenic |
GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3 |
copy number gain |
not provided [RCV000849289] |
Chr5:89949118..129317455 [GRCh37] Chr5:5q14.3-23.3 |
pathogenic |
NM_001750.7(CAST):c.694G>T (p.Gly232Ter) |
single nucleotide variant |
not provided [RCV003312628] |
Chr5:96736235 [GRCh38] Chr5:96071939 [GRCh37] Chr5:5q15 |
pathogenic |
NM_001750.7(CAST):c.1711-137C>T |
single nucleotide variant |
not provided [RCV001715507] |
Chr5:96757307 [GRCh38] Chr5:96093011 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.699+219AAAC[2] |
microsatellite |
not provided [RCV001534122] |
Chr5:96736459..96736462 [GRCh38] Chr5:96072163..96072166 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.1332+242C>T |
single nucleotide variant |
not provided [RCV001651670] |
Chr5:96747634 [GRCh38] Chr5:96083338 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.549+207A>G |
single nucleotide variant |
not provided [RCV001709976] |
Chr5:96729932 [GRCh38] Chr5:96065636 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.2268+96C>G |
single nucleotide variant |
not provided [RCV001618163] |
Chr5:96768095 [GRCh38] Chr5:96103799 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.2037+191A>G |
single nucleotide variant |
not provided [RCV001674365] |
Chr5:96765516 [GRCh38] Chr5:96101220 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.2130+225= |
single nucleotide variant |
not provided [RCV001620425] |
Chr5:96766370 [GRCh38] Chr5:96102074 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.1761+24G>A |
single nucleotide variant |
not provided [RCV001639992] |
Chr5:96757518 [GRCh38] Chr5:96093222 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.2130+110C>T |
single nucleotide variant |
not provided [RCV001714760] |
Chr5:96766255 [GRCh38] Chr5:96101959 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.2037+27_2037+28del |
deletion |
not provided [RCV001609462] |
Chr5:96765328..96765329 [GRCh38] Chr5:96101032..96101033 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.918G>A (p.Ser306=) |
single nucleotide variant |
not provided [RCV001685339] |
Chr5:96740783 [GRCh38] Chr5:96076487 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.75+190C>T |
single nucleotide variant |
not provided [RCV001644325] |
Chr5:96662687 [GRCh38] Chr5:95998391 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.379-224A>C |
single nucleotide variant |
not provided [RCV001724620] |
Chr5:96728929 [GRCh38] Chr5:96064633 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.1711-10C>T |
single nucleotide variant |
not provided [RCV001644443] |
Chr5:96757434 [GRCh38] Chr5:96093138 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.630+88C>T |
single nucleotide variant |
not provided [RCV001667796] |
Chr5:96730948 [GRCh38] Chr5:96066652 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.2341-326C>T |
single nucleotide variant |
not provided [RCV001715006] |
Chr5:96771318 [GRCh38] Chr5:96107022 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.1859C>T (p.Ala620Val) |
single nucleotide variant |
not provided [RCV000966953] |
Chr5:96762299 [GRCh38] Chr5:96098003 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.1242T>A (p.Asp414Glu) |
single nucleotide variant |
not provided [RCV000883195] |
Chr5:96746383 [GRCh38] Chr5:96082087 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.1207G>C (p.Ala403Pro) |
single nucleotide variant |
Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome [RCV002489424]|not provided [RCV000974062] |
Chr5:96746348 [GRCh38] Chr5:96082052 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.2292C>T (p.Ser764=) |
single nucleotide variant |
not provided [RCV000910365] |
Chr5:96770554 [GRCh38] Chr5:96106258 [GRCh37] Chr5:5q15 |
likely benign |
NM_001750.7(CAST):c.1933-3C>T |
single nucleotide variant |
not provided [RCV000888982] |
Chr5:96765218 [GRCh38] Chr5:96100922 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.1525-45G>A |
single nucleotide variant |
not provided [RCV001677402] |
Chr5:96754015 [GRCh38] Chr5:96089719 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.631-35A>G |
single nucleotide variant |
not provided [RCV001595539] |
Chr5:96736137 [GRCh38] Chr5:96071841 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.1932+68G>A |
single nucleotide variant |
not provided [RCV001641381] |
Chr5:96762440 [GRCh38] Chr5:96098144 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.2038-237_2038-234del |
deletion |
not provided [RCV001620219] |
Chr5:96765815..96765818 [GRCh38] Chr5:96101519..96101522 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.1524+232C>G |
single nucleotide variant |
not provided [RCV001658681] |
Chr5:96750914 [GRCh38] Chr5:96086618 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.630+12C>G |
single nucleotide variant |
not provided [RCV001636392] |
Chr5:96730872 [GRCh38] Chr5:96066576 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.75+271G>A |
single nucleotide variant |
not provided [RCV001677101] |
Chr5:96662768 [GRCh38] Chr5:95998472 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.550-118C>A |
single nucleotide variant |
not provided [RCV001675570] |
Chr5:96730662 [GRCh38] Chr5:96066366 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.549+233C>T |
single nucleotide variant |
not provided [RCV001675327] |
Chr5:96729958 [GRCh38] Chr5:96065662 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.2130+95A>G |
single nucleotide variant |
not provided [RCV001688446] |
Chr5:96766240 [GRCh38] Chr5:96101944 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.1099-22C>G |
single nucleotide variant |
not provided [RCV001597611] |
Chr5:96742633 [GRCh38] Chr5:96078337 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.1933-161G>C |
single nucleotide variant |
not provided [RCV001598081] |
Chr5:96765060 [GRCh38] Chr5:96100764 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.699+213A>T |
single nucleotide variant |
not provided [RCV001617145] |
Chr5:96736453 [GRCh38] Chr5:96072157 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.2341-146G>T |
single nucleotide variant |
not provided [RCV001595518] |
Chr5:96771498 [GRCh38] Chr5:96107202 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.1834-83T>G |
single nucleotide variant |
not provided [RCV001685972] |
Chr5:96762191 [GRCh38] Chr5:96097895 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.2176-22G>A |
single nucleotide variant |
not provided [RCV001710813] |
Chr5:96767885 [GRCh38] Chr5:96103589 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.75+165_75+166insAGCAGGTGGCTGCAGGTGGC |
insertion |
not provided [RCV001686939] |
Chr5:96662653..96662654 [GRCh38] Chr5:95998357..95998358 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.1833+83C>T |
single nucleotide variant |
not provided [RCV001676669] |
Chr5:96757737 [GRCh38] Chr5:96093441 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.1525-253C>T |
single nucleotide variant |
not provided [RCV001676157] |
Chr5:96753807 [GRCh38] Chr5:96089511 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.1525-125C>G |
single nucleotide variant |
not provided [RCV001689056] |
Chr5:96753935 [GRCh38] Chr5:96089639 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.378+268A>G |
single nucleotide variant |
not provided [RCV001674213] |
Chr5:96727798 [GRCh38] Chr5:96063502 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.1428+114G>A |
single nucleotide variant |
not provided [RCV001698895] |
Chr5:96748727 [GRCh38] Chr5:96084431 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.1711-158A>G |
single nucleotide variant |
not provided [RCV001671044] |
Chr5:96757286 [GRCh38] Chr5:96092990 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.2037+197G>A |
single nucleotide variant |
not provided [RCV001641198] |
Chr5:96765522 [GRCh38] Chr5:96101226 [GRCh37] Chr5:5q15 |
benign |
GRCh37/hg19 5q14.3-21.3(chr5:87792844-109221844)x3 |
copy number gain |
See cases [RCV001007415] |
Chr5:87792844..109221844 [GRCh37] Chr5:5q14.3-21.3 |
likely pathogenic |
NM_001750.7(CAST):c.2175+166C>T |
single nucleotide variant |
not provided [RCV001684200] |
Chr5:96767648 [GRCh38] Chr5:96103352 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.1200+82C>T |
single nucleotide variant |
not provided [RCV001708403] |
Chr5:96742838 [GRCh38] Chr5:96078542 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.270+237TTGTT[6] |
microsatellite |
not provided [RCV001680519] |
Chr5:96722934..96722935 [GRCh38] Chr5:96058638..96058639 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.336+54C>T |
single nucleotide variant |
not provided [RCV001710683] |
Chr5:96726913 [GRCh38] Chr5:96062617 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.2037+38dup |
duplication |
not provided [RCV001652132] |
Chr5:96765362..96765363 [GRCh38] Chr5:96101066..96101067 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.210+216G>T |
single nucleotide variant |
not provided [RCV001693998] |
Chr5:96696123 [GRCh38] Chr5:96031827 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.337-236T>C |
single nucleotide variant |
not provided [RCV001669384] |
Chr5:96727253 [GRCh38] Chr5:96062957 [GRCh37] Chr5:5q15 |
benign |
NC_000005.10:g.96661874_96661875insCAGA |
insertion |
not provided [RCV001713708] |
Chr5:96661873..96661874 [GRCh38] Chr5:95997577..95997578 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.1201-221G>T |
single nucleotide variant |
not provided [RCV001648720] |
Chr5:96746121 [GRCh38] Chr5:96081825 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.1099-50G>A |
single nucleotide variant |
not provided [RCV001647754] |
Chr5:96742605 [GRCh38] Chr5:96078309 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.1833+31T>C |
single nucleotide variant |
not provided [RCV001614030] |
Chr5:96757685 [GRCh38] Chr5:96093389 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.1974dup (p.Asp659Ter) |
duplication |
Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads [RCV001334710] |
Chr5:96765261..96765262 [GRCh38] Chr5:96100965..96100966 [GRCh37] Chr5:5q15 |
pathogenic |
NM_001750.7(CAST):c.139-254A>G |
single nucleotide variant |
not provided [RCV001534767] |
Chr5:96695582 [GRCh38] Chr5:96031286 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.1932+138G>A |
single nucleotide variant |
not provided [RCV001536475] |
Chr5:96762510 [GRCh38] Chr5:96098214 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.379-142A>T |
single nucleotide variant |
not provided [RCV001650342] |
Chr5:96729011 [GRCh38] Chr5:96064715 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.1200+242A>G |
single nucleotide variant |
not provided [RCV001675501] |
Chr5:96742998 [GRCh38] Chr5:96078702 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.75+157GCAGGTGGCT[3] |
microsatellite |
not provided [RCV001649592] |
Chr5:96662653..96662654 [GRCh38] Chr5:95998357..95998358 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.2131-32A>G |
single nucleotide variant |
not provided [RCV001708493] |
Chr5:96767406 [GRCh38] Chr5:96103110 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.1284+272C>T |
single nucleotide variant |
not provided [RCV001650026] |
Chr5:96746697 [GRCh38] Chr5:96082401 [GRCh37] Chr5:5q15 |
benign |
NM_000439.5(PCSK1):c.1013G>T (p.Gly338Val) |
single nucleotide variant |
not provided [RCV002224477] |
Chr5:96410856 [GRCh38] Chr5:95746560 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_001750.7(CAST):c.820A>G (p.Ile274Val) |
single nucleotide variant |
not provided [RCV001891818] |
Chr5:96740059 [GRCh38] Chr5:96075763 [GRCh37] Chr5:5q15 |
uncertain significance |
GRCh37/hg19 5q15-22.3(chr5:93650000-114969108) |
copy number loss |
not specified [RCV002053511] |
Chr5:93650000..114969108 [GRCh37] Chr5:5q15-22.3 |
pathogenic |
NM_001750.7(CAST):c.887A>G (p.Glu296Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003355787]|not provided [RCV002038492] |
Chr5:96740752 [GRCh38] Chr5:96076456 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_001750.7(CAST):c.986C>G (p.Ala329Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002563362]|not provided [RCV001957941] |
Chr5:96741333 [GRCh38] Chr5:96077037 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_001750.7(CAST):c.568A>G (p.Ile190Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002608059]|not provided [RCV002010206] |
Chr5:96730798 [GRCh38] Chr5:96066502 [GRCh37] Chr5:5q15 |
likely benign|uncertain significance |
NM_001750.7(CAST):c.1555G>A (p.Ala519Thr) |
single nucleotide variant |
not provided [RCV001972880] |
Chr5:96754090 [GRCh38] Chr5:96089794 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_001750.7(CAST):c.1133C>T (p.Ser378Leu) |
single nucleotide variant |
not provided [RCV002185489] |
Chr5:96742689 [GRCh38] Chr5:96078393 [GRCh37] Chr5:5q15 |
likely benign |
NM_001750.7(CAST):c.775A>G (p.Thr259Ala) |
single nucleotide variant |
not provided [RCV002186923] |
Chr5:96737924 [GRCh38] Chr5:96073628 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.2325G>A (p.Ala775=) |
single nucleotide variant |
not provided [RCV002148112] |
Chr5:96770587 [GRCh38] Chr5:96106291 [GRCh37] Chr5:5q15 |
likely benign |
NM_001750.7(CAST):c.1441G>A (p.Ala481Thr) |
single nucleotide variant |
Peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome [RCV002500106]|not provided [RCV002076030] |
Chr5:96750599 [GRCh38] Chr5:96086303 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.2341-19G>A |
single nucleotide variant |
not provided [RCV002119918] |
Chr5:96771625 [GRCh38] Chr5:96107329 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.925A>C (p.Ile309Leu) |
single nucleotide variant |
not provided [RCV002188851] |
Chr5:96741272 [GRCh38] Chr5:96076976 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.978G>A (p.Ser326=) |
single nucleotide variant |
not provided [RCV002097534] |
Chr5:96741325 [GRCh38] Chr5:96077029 [GRCh37] Chr5:5q15 |
likely benign |
NM_001750.7(CAST):c.2037+15A>G |
single nucleotide variant |
not provided [RCV002124070] |
Chr5:96765340 [GRCh38] Chr5:96101044 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.1012-15T>C |
single nucleotide variant |
not provided [RCV002215093] |
Chr5:96741479 [GRCh38] Chr5:96077183 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.631-15C>A |
single nucleotide variant |
not provided [RCV002189951] |
Chr5:96736157 [GRCh38] Chr5:96071861 [GRCh37] Chr5:5q15 |
likely benign |
NM_001750.7(CAST):c.1626+10A>G |
single nucleotide variant |
not provided [RCV002170597] |
Chr5:96754171 [GRCh38] Chr5:96089875 [GRCh37] Chr5:5q15 |
likely benign |
NM_001750.7(CAST):c.1711-12C>T |
single nucleotide variant |
not provided [RCV002073512] |
Chr5:96757432 [GRCh38] Chr5:96093136 [GRCh37] Chr5:5q15 |
likely benign |
NM_001750.7(CAST):c.516A>G (p.Glu172=) |
single nucleotide variant |
not provided [RCV002095610] |
Chr5:96729692 [GRCh38] Chr5:96065396 [GRCh37] Chr5:5q15 |
likely benign |
NM_001750.7(CAST):c.558A>G (p.Pro186=) |
single nucleotide variant |
not provided [RCV002115965] |
Chr5:96730788 [GRCh38] Chr5:96066492 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.963C>T (p.Asp321=) |
single nucleotide variant |
not provided [RCV002198488] |
Chr5:96741310 [GRCh38] Chr5:96077014 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.1099-6T>C |
single nucleotide variant |
not provided [RCV002099165] |
Chr5:96742649 [GRCh38] Chr5:96078353 [GRCh37] Chr5:5q15 |
likely benign |
NM_001750.7(CAST):c.270+19_270+33del |
deletion |
not provided [RCV002142930] |
Chr5:96722709..96722723 [GRCh38] Chr5:96058413..96058427 [GRCh37] Chr5:5q15 |
likely benign |
NM_001750.7(CAST):c.1428+17A>T |
single nucleotide variant |
not provided [RCV002177481] |
Chr5:96748630 [GRCh38] Chr5:96084334 [GRCh37] Chr5:5q15 |
likely benign |
NC_000005.9:g.(?_94800311)_(96107383_?)del |
deletion |
not provided [RCV003116754] |
Chr5:94800311..96107383 [GRCh37] Chr5:5q15 |
pathogenic |
NC_000005.9:g.(?_95998127)_(96107383_?)del |
deletion |
not provided [RCV003122403] |
Chr5:95998127..96107383 [GRCh37] Chr5:5q15 |
pathogenic |
NM_000439.5(PCSK1):c.2053C>T (p.Pro685Ser) |
single nucleotide variant |
not provided [RCV003238716] |
Chr5:96393210 [GRCh38] Chr5:95728914 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_001750.7(CAST):c.167_168delinsGG (p.Gln56Arg) |
indel |
not provided [RCV002685897] |
Chr5:96695864..96695865 [GRCh38] Chr5:96031568..96031569 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_001750.7(CAST):c.1597G>A (p.Asp533Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002687850] |
Chr5:96754132 [GRCh38] Chr5:96089836 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_001750.7(CAST):c.2193A>T (p.Gln731His) |
single nucleotide variant |
Inborn genetic diseases [RCV002771579]|not provided [RCV002806237] |
Chr5:96767924 [GRCh38] Chr5:96103628 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_001750.7(CAST):c.1200+4C>T |
single nucleotide variant |
not provided [RCV002794999] |
Chr5:96742760 [GRCh38] Chr5:96078464 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_001750.7(CAST):c.1649G>A (p.Arg550His) |
single nucleotide variant |
Inborn genetic diseases [RCV002688356] |
Chr5:96754680 [GRCh38] Chr5:96090384 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_001750.7(CAST):c.1088A>G (p.Lys363Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002901650] |
Chr5:96741570 [GRCh38] Chr5:96077274 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_001750.7(CAST):c.1276C>T (p.Pro426Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002684800] |
Chr5:96746417 [GRCh38] Chr5:96082121 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_001750.7(CAST):c.943A>G (p.Ile315Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002694402] |
Chr5:96741290 [GRCh38] Chr5:96076994 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_001750.7(CAST):c.1837T>C (p.Phe613Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002738866] |
Chr5:96762277 [GRCh38] Chr5:96097981 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_001750.7(CAST):c.648A>G (p.Ser216=) |
single nucleotide variant |
not provided [RCV002663148] |
Chr5:96736189 [GRCh38] Chr5:96071893 [GRCh37] Chr5:5q15 |
likely benign |
NM_001750.7(CAST):c.1937G>A (p.Ser646Asn) |
single nucleotide variant |
not provided [RCV002953366] |
Chr5:96765225 [GRCh38] Chr5:96100929 [GRCh37] Chr5:5q15 |
likely benign |
NM_001750.7(CAST):c.2185G>A (p.Asp729Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002704219] |
Chr5:96767916 [GRCh38] Chr5:96103620 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_001750.7(CAST):c.917C>T (p.Ser306Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003250619]|not provided [RCV002909760] |
Chr5:96740782 [GRCh38] Chr5:96076486 [GRCh37] Chr5:5q15 |
likely benign|uncertain significance |
NM_001750.7(CAST):c.1833+14T>C |
single nucleotide variant |
not provided [RCV002795555] |
Chr5:96757668 [GRCh38] Chr5:96093372 [GRCh37] Chr5:5q15 |
benign |
NM_001750.7(CAST):c.1280C>T (p.Ala427Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002783743] |
Chr5:96746421 [GRCh38] Chr5:96082125 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_001750.7(CAST):c.1315C>G (p.Pro439Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002868926] |
Chr5:96747375 [GRCh38] Chr5:96083079 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_001750.7(CAST):c.1284+10T>C |
single nucleotide variant |
not provided [RCV003002113] |
Chr5:96746435 [GRCh38] Chr5:96082139 [GRCh37] Chr5:5q15 |
likely benign |
NM_001750.7(CAST):c.1898C>T (p.Thr633Met) |
single nucleotide variant |
not provided [RCV002982479] |
Chr5:96762338 [GRCh38] Chr5:96098042 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_001750.7(CAST):c.1355T>C (p.Ile452Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002666493] |
Chr5:96748540 [GRCh38] Chr5:96084244 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_001750.7(CAST):c.74A>C (p.Glu25Ala) |
single nucleotide variant |
not provided [RCV002572734] |
Chr5:96662496 [GRCh38] Chr5:95998200 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_001750.7(CAST):c.1852C>T (p.Leu618Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002804360] |
Chr5:96762292 [GRCh38] Chr5:96097996 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_001750.7(CAST):c.479A>T (p.Asp160Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002914692]|not provided [RCV002914691] |
Chr5:96729655 [GRCh38] Chr5:96065359 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_001750.7(CAST):c.1429-17del |
deletion |
not provided [RCV003049236] |
Chr5:96750570 [GRCh38] Chr5:96086274 [GRCh37] Chr5:5q15 |
likely benign |
NM_001750.7(CAST):c.358AAG[1] (p.Lys121del) |
microsatellite |
not provided [RCV002632725] |
Chr5:96727508..96727510 [GRCh38] Chr5:96063212..96063214 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_001750.7(CAST):c.1949T>C (p.Leu650Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002877864] |
Chr5:96765237 [GRCh38] Chr5:96100941 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_001750.7(CAST):c.1183A>G (p.Ile395Val) |
single nucleotide variant |
not provided [RCV002716332] |
Chr5:96742739 [GRCh38] Chr5:96078443 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_001750.7(CAST):c.965T>A (p.Phe322Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV002939671] |
Chr5:96741312 [GRCh38] Chr5:96077016 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_001750.7(CAST):c.1648C>G (p.Arg550Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002718680] |
Chr5:96754679 [GRCh38] Chr5:96090383 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_001750.7(CAST):c.1755G>A (p.Gln585=) |
single nucleotide variant |
not provided [RCV002921900] |
Chr5:96757488 [GRCh38] Chr5:96093192 [GRCh37] Chr5:5q15 |
likely benign |
NM_001750.7(CAST):c.756A>C (p.Glu252Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002673300] |
Chr5:96737905 [GRCh38] Chr5:96073609 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_001750.7(CAST):c.1382G>A (p.Arg461Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002747385] |
Chr5:96748567 [GRCh38] Chr5:96084271 [GRCh37] Chr5:5q15 |
likely benign |
NM_001750.7(CAST):c.692C>T (p.Ser231Leu) |
single nucleotide variant |
not provided [RCV002584905] |
Chr5:96736233 [GRCh38] Chr5:96071937 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_001750.7(CAST):c.1153C>A (p.Gln385Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002677347] |
Chr5:96742709 [GRCh38] Chr5:96078413 [GRCh37] Chr5:5q15 |
likely benign |
NM_001750.7(CAST):c.1757T>C (p.Leu586Pro) |
single nucleotide variant |
not provided [RCV002943761] |
Chr5:96757490 [GRCh38] Chr5:96093194 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_001750.7(CAST):c.1633G>T (p.Ala545Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003214590] |
Chr5:96754664 [GRCh38] Chr5:96090368 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_001750.7(CAST):c.1331A>G (p.Lys444Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003215967] |
Chr5:96747391 [GRCh38] Chr5:96083095 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_001750.7(CAST):c.1807T>C (p.Ser603Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003286687] |
Chr5:96757628 [GRCh38] Chr5:96093332 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.181-305T>C |
single nucleotide variant |
not provided [RCV001674801] |
Chr5:96429622 [GRCh38] Chr5:95765326 [GRCh37] Chr5:5q15 |
benign |
NM_000439.5(PCSK1):c.1723-153T>C |
single nucleotide variant |
not provided [RCV001674265] |
Chr5:96395178 [GRCh38] Chr5:95730882 [GRCh37] Chr5:5q15 |
benign |
NM_000439.5(PCSK1):c.1884+13C>G |
single nucleotide variant |
Obesity due to prohormone convertase I deficiency [RCV001158035] |
Chr5:96394851 [GRCh38] Chr5:95730555 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.1884+11C>T |
single nucleotide variant |
Obesity due to prohormone convertase I deficiency [RCV001158036] |
Chr5:96394853 [GRCh38] Chr5:95730557 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.1884+107G>A |
single nucleotide variant |
not provided [RCV001599124] |
Chr5:96394757 [GRCh38] Chr5:95730461 [GRCh37] Chr5:5q15 |
benign |
NM_000439.5(PCSK1):c.296C>T (p.Ala99Val) |
single nucleotide variant |
not provided [RCV001979145] |
Chr5:96425920 [GRCh38] Chr5:95761624 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.620+4A>C |
single nucleotide variant |
Obesity due to prohormone convertase I deficiency [RCV000015082] |
Chr5:96421876 [GRCh38] Chr5:95757580 [GRCh37] Chr5:5q15 |
pathogenic |
NM_000439.5(PCSK1):c.638_640del (p.Ala213del) |
deletion |
Obesity due to prohormone convertase I deficiency [RCV000015084] |
Chr5:96416102..96416104 [GRCh38] Chr5:95751806..95751808 [GRCh37] Chr5:5q15 |
pathogenic |
NM_000439.5(PCSK1):c.544-39_544-38del |
deletion |
not provided [RCV001644343] |
Chr5:96421994..96421995 [GRCh38] Chr5:95757698..95757699 [GRCh37] Chr5:5q15 |
benign |
NM_000439.5(PCSK1):c.396+90_396+91del |
deletion |
not provided [RCV001689528] |
Chr5:96425729..96425730 [GRCh38] Chr5:95761433..95761434 [GRCh37] Chr5:5q15 |
benign |
NM_000439.5(PCSK1):c.1146G>A (p.Ser382=) |
single nucleotide variant |
Obesity due to prohormone convertase I deficiency [RCV001152563] |
Chr5:96408273 [GRCh38] Chr5:95743977 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.1071C>T (p.Ser357=) |
single nucleotide variant |
Obesity due to prohormone convertase I deficiency [RCV001153843]|not provided [RCV000883931] |
Chr5:96410798 [GRCh38] Chr5:95746502 [GRCh37] Chr5:5q15 |
likely benign|uncertain significance |
NM_000439.5(PCSK1):c.1549C>T (p.Arg517Ter) |
single nucleotide variant |
Obesity due to prohormone convertase I deficiency [RCV001807939] |
Chr5:96398918 [GRCh38] Chr5:95734622 [GRCh37] Chr5:5q15 |
likely pathogenic |
NM_000439.5(PCSK1):c.675C>A (p.Cys225Ter) |
single nucleotide variant |
Obesity due to prohormone convertase I deficiency [RCV001808251] |
Chr5:96416067 [GRCh38] Chr5:95751771 [GRCh37] Chr5:5q15 |
likely pathogenic |
NM_000439.5(PCSK1):c.1993C>G (p.Gln665Glu) |
single nucleotide variant |
Monogenic Non-Syndromic Obesity [RCV000397598]|Obesity due to prohormone convertase I deficiency [RCV000342685]|not provided [RCV001672668]|not specified [RCV000730963] |
Chr5:96393270 [GRCh38] Chr5:95728974 [GRCh37] Chr5:5q15 |
benign|likely benign |
NM_000439.5(PCSK1):c.1650T>C (p.Asn550=) |
single nucleotide variant |
Monogenic Non-Syndromic Obesity [RCV000368049]|Obesity due to prohormone convertase I deficiency [RCV000275790]|not provided [RCV002058545]|not specified [RCV001529723] |
Chr5:96397408 [GRCh38] Chr5:95733112 [GRCh37] Chr5:5q15 |
benign|likely benign |
NM_000439.5(PCSK1):c.2129C>G (p.Pro710Arg) |
single nucleotide variant |
not specified [RCV001819596] |
Chr5:96393134 [GRCh38] Chr5:95728838 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.*438C>A |
single nucleotide variant |
Obesity due to prohormone convertase I deficiency [RCV001152464] |
Chr5:96392563 [GRCh38] Chr5:95728267 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.239G>A (p.Arg80Gln) |
single nucleotide variant |
not provided [RCV002077275]|not specified [RCV001822203] |
Chr5:96429259 [GRCh38] Chr5:95764963 [GRCh37] Chr5:5q15 |
benign|likely benign |
NM_000439.5(PCSK1):c.1405G>A (p.Val469Ile) |
single nucleotide variant |
Obesity due to prohormone convertase I deficiency [RCV001152561]|not provided [RCV000498556] |
Chr5:96399978 [GRCh38] Chr5:95735682 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.1030G>A (p.Ala344Thr) |
single nucleotide variant |
Obesity due to prohormone convertase I deficiency [RCV001153844]|not provided [RCV002070876] |
Chr5:96410839 [GRCh38] Chr5:95746543 [GRCh37] Chr5:5q15 |
benign|uncertain significance |
NM_000439.5(PCSK1):c.470C>T (p.Thr157Met) |
single nucleotide variant |
not specified [RCV001822262] |
Chr5:96423386 [GRCh38] Chr5:95759090 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.1447G>A (p.Gly483Arg) |
single nucleotide variant |
Obesity due to prohormone convertase I deficiency [RCV000015081] |
Chr5:96399020 [GRCh38] Chr5:95734724 [GRCh37] Chr5:5q15 |
pathogenic |
NM_000439.5(PCSK1):c.748G>T (p.Glu250Ter) |
single nucleotide variant |
Obesity due to prohormone convertase I deficiency [RCV000015083] |
Chr5:96412452 [GRCh38] Chr5:95748156 [GRCh37] Chr5:5q15 |
pathogenic |
NM_000439.5(PCSK1):c.1764G>A (p.Lys588=) |
single nucleotide variant |
Monogenic Non-Syndromic Obesity [RCV000397585]|Obesity due to prohormone convertase I deficiency [RCV000310895]|not provided [RCV001701867]|not specified [RCV001700083] |
Chr5:96394984 [GRCh38] Chr5:95730688 [GRCh37] Chr5:5q15 |
benign|likely benign|uncertain significance |
NM_000439.5(PCSK1):c.927C>G (p.Asn309Lys) |
single nucleotide variant |
Obesity due to prohormone convertase I deficiency [RCV002291322] |
Chr5:96410942 [GRCh38] Chr5:95746646 [GRCh37] Chr5:5q15 |
pathogenic |
NM_000439.5(PCSK1):c.945T>C (p.Asp315=) |
single nucleotide variant |
Obesity due to prohormone convertase I deficiency [RCV001153846] |
Chr5:96410924 [GRCh38] Chr5:95746628 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.544-45_544-38del |
deletion |
not provided [RCV001684592] |
Chr5:96421994..96422001 [GRCh38] Chr5:95757698..95757705 [GRCh37] Chr5:5q15 |
benign |
NM_000439.5(PCSK1):c.1095+123A>C |
single nucleotide variant |
not provided [RCV001719255] |
Chr5:96410651 [GRCh38] Chr5:95746355 [GRCh37] Chr5:5q15 |
benign |
NM_000439.5(PCSK1):c.*1307A>G |
single nucleotide variant |
Obesity due to prohormone convertase I deficiency [RCV001156257] |
Chr5:96391694 [GRCh38] Chr5:95727398 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.612C>T (p.Asn204=) |
single nucleotide variant |
Monogenic Non-Syndromic Obesity [RCV000313031]|Obesity due to prohormone convertase I deficiency [RCV000369988]|not provided [RCV001613176] |
Chr5:96421888 [GRCh38] Chr5:95757592 [GRCh37] Chr5:5q15 |
benign|likely benign |
NM_000439.5(PCSK1):c.1196+219G>A |
single nucleotide variant |
not provided [RCV001614197] |
Chr5:96408004 [GRCh38] Chr5:95743708 [GRCh37] Chr5:5q15 |
benign |
NM_000439.5(PCSK1):c.*1967C>T |
single nucleotide variant |
Obesity due to prohormone convertase I deficiency [RCV001152371] |
Chr5:96391034 [GRCh38] Chr5:95726738 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.1197-9C>T |
single nucleotide variant |
Monogenic Non-Syndromic Obesity [RCV000283894]|Obesity due to prohormone convertase I deficiency [RCV000385249]|not provided [RCV000886542]|not specified [RCV001729558] |
Chr5:96400195 [GRCh38] Chr5:95735899 [GRCh37] Chr5:5q15 |
benign|uncertain significance |
NM_000439.5(PCSK1):c.920C>T (p.Ser307Leu) |
single nucleotide variant |
Obesity due to prohormone convertase I deficiency [RCV000015085] |
Chr5:96410949 [GRCh38] Chr5:95746653 [GRCh37] Chr5:5q15 |
pathogenic |
NM_000439.5(PCSK1):c.*170A>T |
single nucleotide variant |
Obesity due to prohormone convertase I deficiency [RCV001153739] |
Chr5:96392831 [GRCh38] Chr5:95728535 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.993C>T (p.Ile331=) |
single nucleotide variant |
Obesity due to prohormone convertase I deficiency [RCV001153845] |
Chr5:96410876 [GRCh38] Chr5:95746580 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.927C>T (p.Asn309=) |
single nucleotide variant |
Obesity due to prohormone convertase I deficiency [RCV001153847]|not provided [RCV002559483]|not specified [RCV001819862] |
Chr5:96410942 [GRCh38] Chr5:95746646 [GRCh37] Chr5:5q15 |
likely benign|uncertain significance |
NM_000439.5(PCSK1):c.882+56_882+58del |
microsatellite |
not provided [RCV001655391] |
Chr5:96412260..96412262 [GRCh38] Chr5:95747964..95747966 [GRCh37] Chr5:5q15 |
benign |
NM_000439.5(PCSK1):c.1292C>A (p.Ala431Glu) |
single nucleotide variant |
not provided [RCV002013668] |
Chr5:96400091 [GRCh38] Chr5:95735795 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.805G>T (p.Gly269Cys) |
single nucleotide variant |
not provided [RCV002005478] |
Chr5:96412395 [GRCh38] Chr5:95748099 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.1197-16G>A |
single nucleotide variant |
not provided [RCV002074706] |
Chr5:96400202 [GRCh38] Chr5:95735906 [GRCh37] Chr5:5q15 |
likely benign |
NM_000439.5(PCSK1):c.180+864G>A |
single nucleotide variant |
not provided [RCV001636368] |
Chr5:96431999 [GRCh38] Chr5:95767703 [GRCh37] Chr5:5q15 |
benign |
NM_000439.5(PCSK1):c.1537A>G (p.Ile513Val) |
single nucleotide variant |
not provided [RCV001949187] |
Chr5:96398930 [GRCh38] Chr5:95734634 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.*1372C>G |
single nucleotide variant |
Obesity due to prohormone convertase I deficiency [RCV001156256] |
Chr5:96391629 [GRCh38] Chr5:95727333 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.397-10T>C |
single nucleotide variant |
Monogenic Non-Syndromic Obesity [RCV000307699]|Obesity due to prohormone convertase I deficiency [RCV000395733]|not provided [RCV000880021]|not specified [RCV001821081] |
Chr5:96423469 [GRCh38] Chr5:95759173 [GRCh37] Chr5:5q15 |
benign|uncertain significance |
NM_000439.5(PCSK1):c.1096-10C>T |
single nucleotide variant |
Monogenic Non-Syndromic Obesity [RCV000390603]|Obesity due to prohormone convertase I deficiency [RCV000281077]|not provided [RCV002058546] |
Chr5:96408333 [GRCh38] Chr5:95744037 [GRCh37] Chr5:5q15 |
likely benign|uncertain significance |
NM_000439.5(PCSK1):c.121G>A (p.Gly41Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003293909]|Obesity due to prohormone convertase I deficiency [RCV001158139] |
Chr5:96432922 [GRCh38] Chr5:95768626 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.544-38del |
deletion |
not provided [RCV001647952] |
Chr5:96421994 [GRCh38] Chr5:95757698 [GRCh37] Chr5:5q15 |
benign |
NM_000439.5(PCSK1):c.544-47_544-38del |
deletion |
not provided [RCV001682387] |
Chr5:96421994..96422003 [GRCh38] Chr5:95757698..95757707 [GRCh37] Chr5:5q15 |
benign |
NM_000439.5(PCSK1):c.1214G>A (p.Arg405Gln) |
single nucleotide variant |
not provided [RCV001773191] |
Chr5:96400169 [GRCh38] Chr5:95735873 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.*2187G>A |
single nucleotide variant |
Obesity due to prohormone convertase I deficiency [RCV001157851] |
Chr5:96390814 [GRCh38] Chr5:95726518 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.*2115G>A |
single nucleotide variant |
Obesity due to prohormone convertase I deficiency [RCV001157852] |
Chr5:96390886 [GRCh38] Chr5:95726590 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.*1132C>T |
single nucleotide variant |
Obesity due to prohormone convertase I deficiency [RCV001157929] |
Chr5:96391869 [GRCh38] Chr5:95727573 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.375G>A (p.Met125Ile) |
single nucleotide variant |
Obesity due to prohormone convertase I deficiency [RCV001156478]|not provided [RCV001567232] |
Chr5:96425841 [GRCh38] Chr5:95761545 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.856A>T (p.Lys286Ter) |
single nucleotide variant |
not provided [RCV003238715] |
Chr5:96412344 [GRCh38] Chr5:95748048 [GRCh37] Chr5:5q15 |
likely pathogenic |
NM_000439.5(PCSK1):c.986T>C (p.Ile329Thr) |
single nucleotide variant |
not provided [RCV001917626] |
Chr5:96410883 [GRCh38] Chr5:95746587 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.1722+272T>A |
single nucleotide variant |
not provided [RCV001709116] |
Chr5:96397064 [GRCh38] Chr5:95732768 [GRCh37] Chr5:5q15 |
benign |
NM_000439.5(PCSK1):c.1095+1G>T |
single nucleotide variant |
Obesity due to prohormone convertase I deficiency [RCV002306253] |
Chr5:96410773 [GRCh38] Chr5:95746477 [GRCh37] Chr5:5q15 |
pathogenic |
NM_000439.5(PCSK1):c.1095+1G>A |
single nucleotide variant |
Obesity due to prohormone convertase I deficiency [RCV002306254]|not provided [RCV003326626] |
Chr5:96410773 [GRCh38] Chr5:95746477 [GRCh37] Chr5:5q15 |
pathogenic|likely pathogenic |
NM_000439.5(PCSK1):c.181-351G>A |
single nucleotide variant |
not provided [RCV001611125] |
Chr5:96429668 [GRCh38] Chr5:95765372 [GRCh37] Chr5:5q15 |
benign |
NM_000439.5(PCSK1):c.65T>C (p.Leu22Pro) |
single nucleotide variant |
not provided [RCV001942412] |
Chr5:96432978 [GRCh38] Chr5:95768682 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.1722+54A>G |
single nucleotide variant |
not provided [RCV001677788] |
Chr5:96397282 [GRCh38] Chr5:95732986 [GRCh37] Chr5:5q15 |
benign |
NM_000439.5(PCSK1):c.1550G>A (p.Arg517Gln) |
single nucleotide variant |
not specified [RCV001822401] |
Chr5:96398917 [GRCh38] Chr5:95734621 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.709+188T>C |
single nucleotide variant |
not provided [RCV001653271] |
Chr5:96415845 [GRCh38] Chr5:95751549 [GRCh37] Chr5:5q15 |
benign |
NM_000439.5(PCSK1):c.*2636C>T |
single nucleotide variant |
Obesity due to prohormone convertase I deficiency [RCV001157847] |
Chr5:96390365 [GRCh38] Chr5:95726069 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.*974A>G |
single nucleotide variant |
Obesity due to prohormone convertase I deficiency [RCV001157930] |
Chr5:96392027 [GRCh38] Chr5:95727731 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.1780A>G (p.Thr594Ala) |
single nucleotide variant |
Obesity due to prohormone convertase I deficiency [RCV001158037] |
Chr5:96394968 [GRCh38] Chr5:95730672 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.2069G>C (p.Ser690Thr) |
single nucleotide variant |
Monogenic Non-Syndromic Obesity [RCV000304198]|Obesity due to prohormone convertase I deficiency [RCV000404859]|not provided [RCV001718762]|not specified [RCV000730962] |
Chr5:96393194 [GRCh38] Chr5:95728898 [GRCh37] Chr5:5q15 |
benign|likely benign |
NM_000439.5(PCSK1):c.1885-324C>T |
single nucleotide variant |
not provided [RCV001725403] |
Chr5:96393702 [GRCh38] Chr5:95729406 [GRCh37] Chr5:5q15 |
benign |
NM_000439.5(PCSK1):c.2257A>C (p.Asn753His) |
single nucleotide variant |
not provided [RCV001917924] |
Chr5:96393006 [GRCh38] Chr5:95728710 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.2247G>A (p.Leu749=) |
single nucleotide variant |
Obesity due to prohormone convertase I deficiency [RCV001156359] |
Chr5:96393016 [GRCh38] Chr5:95728720 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.1982G>T (p.Gly661Val) |
single nucleotide variant |
Obesity due to prohormone convertase I deficiency [RCV001156360] |
Chr5:96393281 [GRCh38] Chr5:95728985 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.280G>A (p.Asp94Asn) |
single nucleotide variant |
not provided [RCV002275437] |
Chr5:96429218 [GRCh38] Chr5:95764922 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.1197-305C>T |
single nucleotide variant |
not provided [RCV001687390] |
Chr5:96400491 [GRCh38] Chr5:95736195 [GRCh37] Chr5:5q15 |
benign |
NM_000439.5(PCSK1):c.559T>C (p.Tyr187His) |
single nucleotide variant |
Obesity due to prohormone convertase I deficiency [RCV001156475] |
Chr5:96421941 [GRCh38] Chr5:95757645 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.541T>C (p.Tyr181His) |
single nucleotide variant |
OBESITY (BMIQ12), SUSCEPTIBILITY TO [RCV002497582]|Obesity due to prohormone convertase I deficiency [RCV001156476]|not provided [RCV001700981] |
Chr5:96423315 [GRCh38] Chr5:95759019 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.524C>T (p.Thr175Met) |
single nucleotide variant |
Obesity due to prohormone convertase I deficiency [RCV001156477] |
Chr5:96423332 [GRCh38] Chr5:95759036 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.334G>A (p.Ala112Thr) |
single nucleotide variant |
not provided [RCV001699928] |
Chr5:96425882 [GRCh38] Chr5:95761586 [GRCh37] Chr5:5q15 |
likely benign |
NM_000439.5(PCSK1):c.*245G>T |
single nucleotide variant |
Obesity due to prohormone convertase I deficiency [RCV001153738] |
Chr5:96392756 [GRCh38] Chr5:95728460 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.*2634G>A |
single nucleotide variant |
Obesity due to prohormone convertase I deficiency [RCV001157848] |
Chr5:96390367 [GRCh38] Chr5:95726071 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.*2611A>G |
single nucleotide variant |
Obesity due to prohormone convertase I deficiency [RCV001157849] |
Chr5:96390390 [GRCh38] Chr5:95726094 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.*2582A>G |
single nucleotide variant |
Obesity due to prohormone convertase I deficiency [RCV001157850] |
Chr5:96390419 [GRCh38] Chr5:95726123 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.*265T>C |
single nucleotide variant |
Monogenic Non-Syndromic Obesity [RCV000318486]|Obesity due to prohormone convertase I deficiency [RCV000375391]|not provided [RCV001672667] |
Chr5:96392736 [GRCh38] Chr5:95728440 [GRCh37] Chr5:5q15 |
benign|likely benign |
NM_000439.5(PCSK1):c.1350_1353del (p.Val450_Asp451insTer) |
deletion |
Obesity due to prohormone convertase I deficiency [RCV002306255] |
Chr5:96400030..96400033 [GRCh38] Chr5:95735734..95735737 [GRCh37] Chr5:5q15 |
pathogenic |
NM_000439.5(PCSK1):c.285+227G>A |
single nucleotide variant |
not provided [RCV001681276] |
Chr5:96428986 [GRCh38] Chr5:95764690 [GRCh37] Chr5:5q15 |
benign |
NM_000439.5(PCSK1):c.270A>G (p.Leu90=) |
single nucleotide variant |
not provided [RCV000881877]|not specified [RCV001817075] |
Chr5:96429228 [GRCh38] Chr5:95764932 [GRCh37] Chr5:5q15 |
likely benign |
NM_000439.5(PCSK1):c.1313G>A (p.Arg438Gln) |
single nucleotide variant |
Obesity due to prohormone convertase I deficiency [RCV001823847] |
Chr5:96400070 [GRCh38] Chr5:95735774 [GRCh37] Chr5:5q15 |
likely pathogenic |
NM_000439.5(PCSK1):c.544-46_544-38del |
deletion |
not provided [RCV001654681] |
Chr5:96421994..96422002 [GRCh38] Chr5:95757698..95757706 [GRCh37] Chr5:5q15 |
benign |
NM_000439.5(PCSK1):c.1179T>C (p.Ala393=) |
single nucleotide variant |
Monogenic Non-Syndromic Obesity [RCV000334856]|Obesity due to prohormone convertase I deficiency [RCV000286908]|not provided [RCV002061298] |
Chr5:96408240 [GRCh38] Chr5:95743944 [GRCh37] Chr5:5q15 |
benign|uncertain significance |
NM_000439.5(PCSK1):c.181-58A>C |
single nucleotide variant |
not provided [RCV001680071] |
Chr5:96429375 [GRCh38] Chr5:95765079 [GRCh37] Chr5:5q15 |
benign |
NM_000439.5(PCSK1):c.958dup (p.Asp320fs) |
duplication |
Obesity due to prohormone convertase I deficiency [RCV001784811] |
Chr5:96410910..96410911 [GRCh38] Chr5:95746614..95746615 [GRCh37] Chr5:5q15 |
pathogenic |
NM_000439.5(PCSK1):c.423G>A (p.Leu141=) |
single nucleotide variant |
not provided [RCV002085126] |
Chr5:96423433 [GRCh38] Chr5:95759137 [GRCh37] Chr5:5q15 |
likely benign |
NM_000439.5(PCSK1):c.-101T>C |
single nucleotide variant |
Monogenic Non-Syndromic Obesity [RCV000371861]|Obesity due to prohormone convertase I deficiency [RCV000279593]|not provided [RCV001709626] |
Chr5:96433143 [GRCh38] Chr5:95768847 [GRCh37] Chr5:5q15 |
benign|likely benign |
NM_000439.5(PCSK1):c.1345C>G (p.Leu449Val) |
single nucleotide variant |
Obesity due to prohormone convertase I deficiency [RCV001152562] |
Chr5:96400038 [GRCh38] Chr5:95735742 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.*120C>T |
single nucleotide variant |
Obesity due to prohormone convertase I deficiency [RCV001153740] |
Chr5:96392881 [GRCh38] Chr5:95728585 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.595C>T (p.Arg199Ter) |
single nucleotide variant |
Obesity due to prohormone convertase I deficiency [RCV002291323] |
Chr5:96421905 [GRCh38] Chr5:95757609 [GRCh37] Chr5:5q15 |
pathogenic |
NM_000439.5(PCSK1):c.396+91del |
deletion |
not provided [RCV001680502] |
Chr5:96425729 [GRCh38] Chr5:95761433 [GRCh37] Chr5:5q15 |
benign |
NM_000439.5(PCSK1):c.180+647A>G |
single nucleotide variant |
not provided [RCV001695125] |
Chr5:96432216 [GRCh38] Chr5:95767920 [GRCh37] Chr5:5q15 |
benign |
NM_000439.5(PCSK1):c.624C>T (p.His208=) |
single nucleotide variant |
Obesity due to prohormone convertase I deficiency [RCV001156474]|not provided [RCV002070926] |
Chr5:96416118 [GRCh38] Chr5:95751822 [GRCh37] Chr5:5q15 |
likely benign|uncertain significance |
NM_000439.5(PCSK1):c.709+219dup |
duplication |
not provided [RCV001714032] |
Chr5:96415805..96415806 [GRCh38] Chr5:95751509..95751510 [GRCh37] Chr5:5q15 |
benign |
NM_000439.5(PCSK1):c.1918A>G (p.Thr640Ala) |
single nucleotide variant |
Obesity due to prohormone convertase I deficiency [RCV001158034]|not provided [RCV001700397]|not specified [RCV000503873] |
Chr5:96393345 [GRCh38] Chr5:95729049 [GRCh37] Chr5:5q15 |
likely benign|uncertain significance |
NM_000439.5(PCSK1):c.661A>G (p.Asn221Asp) |
single nucleotide variant |
OBESITY (BMIQ12), SUSCEPTIBILITY TO [RCV000022673]|not provided [RCV001636601]|not specified [RCV000731192] |
Chr5:96416081 [GRCh38] Chr5:95751785 [GRCh37] Chr5:5q15 |
risk factor|benign |
NM_000439.5(PCSK1):c.710-8T>G |
single nucleotide variant |
not provided [RCV002806182] |
Chr5:96412498 [GRCh38] Chr5:95748202 [GRCh37] Chr5:5q15 |
likely benign |
NM_000439.5(PCSK1):c.37T>C (p.Phe13Leu) |
single nucleotide variant |
not provided [RCV002853294] |
Chr5:96433006 [GRCh38] Chr5:95768710 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.2179G>A (p.Val727Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002712247] |
Chr5:96393084 [GRCh38] Chr5:95728788 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.1597A>G (p.Thr533Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002855779] |
Chr5:96397461 [GRCh38] Chr5:95733165 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.1063T>C (p.Tyr355His) |
single nucleotide variant |
Inborn genetic diseases [RCV002803685] |
Chr5:96410806 [GRCh38] Chr5:95746510 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.1221G>A (p.Met407Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002743518] |
Chr5:96400162 [GRCh38] Chr5:95735866 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.620+10T>C |
single nucleotide variant |
not provided [RCV002734820] |
Chr5:96421870 [GRCh38] Chr5:95757574 [GRCh37] Chr5:5q15 |
likely benign |
NM_000439.5(PCSK1):c.397-18G>A |
single nucleotide variant |
not provided [RCV002148789] |
Chr5:96423477 [GRCh38] Chr5:95759181 [GRCh37] Chr5:5q15 |
likely benign |
NM_000439.5(PCSK1):c.112G>A (p.Glu38Lys) |
single nucleotide variant |
not provided [RCV001879710] |
Chr5:96432931 [GRCh38] Chr5:95768635 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.710-9G>A |
single nucleotide variant |
not provided [RCV002791033] |
Chr5:96412499 [GRCh38] Chr5:95748203 [GRCh37] Chr5:5q15 |
likely benign |
NM_000439.5(PCSK1):c.396+9C>G |
single nucleotide variant |
not provided [RCV002103085] |
Chr5:96425811 [GRCh38] Chr5:95761515 [GRCh37] Chr5:5q15 |
likely benign |
NM_000439.5(PCSK1):c.1124C>T (p.Thr375Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003351364] |
Chr5:96408295 [GRCh38] Chr5:95743999 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.882+13A>G |
single nucleotide variant |
not provided [RCV002966901] |
Chr5:96412305 [GRCh38] Chr5:95748009 [GRCh37] Chr5:5q15 |
likely benign |
NM_000439.5(PCSK1):c.1951G>A (p.Val651Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002869511] |
Chr5:96393312 [GRCh38] Chr5:95729016 [GRCh37] Chr5:5q15 |
likely benign |
NM_000439.5(PCSK1):c.1268A>G (p.Asn423Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002869669] |
Chr5:96400115 [GRCh38] Chr5:95735819 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.1824G>A (p.Thr608=) |
single nucleotide variant |
not provided [RCV003106461] |
Chr5:96394924 [GRCh38] Chr5:95730628 [GRCh37] Chr5:5q15 |
likely benign |
NM_000439.5(PCSK1):c.1926G>A (p.Val642=) |
single nucleotide variant |
not provided [RCV003049235] |
Chr5:96393337 [GRCh38] Chr5:95729041 [GRCh37] Chr5:5q15 |
likely benign |
NM_000439.5(PCSK1):c.1326C>G (p.Gly442=) |
single nucleotide variant |
not provided [RCV000938721] |
Chr5:96400057 [GRCh38] Chr5:95735761 [GRCh37] Chr5:5q15 |
likely benign |
NM_000439.5(PCSK1):c.1497T>C (p.Asn499=) |
single nucleotide variant |
not provided [RCV000923337] |
Chr5:96398970 [GRCh38] Chr5:95734674 [GRCh37] Chr5:5q15 |
likely benign |
NM_000439.5(PCSK1):c.1518T>C (p.His506=) |
single nucleotide variant |
not provided [RCV000924135] |
Chr5:96398949 [GRCh38] Chr5:95734653 [GRCh37] Chr5:5q15 |
likely benign |
NM_000439.5(PCSK1):c.42C>T (p.Val14=) |
single nucleotide variant |
not provided [RCV000901011] |
Chr5:96433001 [GRCh38] Chr5:95768705 [GRCh37] Chr5:5q15 |
likely benign |
NM_000439.5(PCSK1):c.*287A>G |
single nucleotide variant |
Monogenic Non-Syndromic Obesity [RCV000260656]|Obesity due to prohormone convertase I deficiency [RCV000353426] |
Chr5:96392714 [GRCh38] Chr5:95728418 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.*1231C>T |
single nucleotide variant |
Monogenic Non-Syndromic Obesity [RCV000358567]|Obesity due to prohormone convertase I deficiency [RCV000266215] |
Chr5:96391770 [GRCh38] Chr5:95727474 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.676G>A (p.Gly226Arg) |
single nucleotide variant |
not provided [RCV000732517] |
Chr5:96416066 [GRCh38] Chr5:95751770 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.352C>T (p.Leu118=) |
single nucleotide variant |
OBESITY (BMIQ12), SUSCEPTIBILITY TO [RCV002495503]|not provided [RCV000911791] |
Chr5:96425864 [GRCh38] Chr5:95761568 [GRCh37] Chr5:5q15 |
likely benign |
NM_000439.5(PCSK1):c.1625A>G (p.Asp542Gly) |
single nucleotide variant |
not provided [RCV000518996] |
Chr5:96397433 [GRCh38] Chr5:95733137 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.1774C>A (p.His592Asn) |
single nucleotide variant |
not provided [RCV000522431] |
Chr5:96394974 [GRCh38] Chr5:95730678 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.180+757A>G |
single nucleotide variant |
not provided [RCV000494551] |
Chr5:96432106 [GRCh38] Chr5:95767810 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.*1097C>A |
single nucleotide variant |
Monogenic Non-Syndromic Obesity [RCV000259909]|Obesity due to prohormone convertase I deficiency [RCV000317430] |
Chr5:96391904 [GRCh38] Chr5:95727608 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.595C>A (p.Arg199=) |
single nucleotide variant |
not specified [RCV000500465] |
Chr5:96421905 [GRCh38] Chr5:95757609 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.*471C>G |
single nucleotide variant |
Monogenic Non-Syndromic Obesity [RCV000305580]|Obesity due to prohormone convertase I deficiency [RCV000266737] |
Chr5:96392530 [GRCh38] Chr5:95728234 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.2137C>T (p.Leu713Phe) |
single nucleotide variant |
Monogenic Non-Syndromic Obesity [RCV000291728]|OBESITY (BMIQ12), SUSCEPTIBILITY TO [RCV002488787]|Obesity due to prohormone convertase I deficiency [RCV000339691] |
Chr5:96393126 [GRCh38] Chr5:95728830 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_012081.6(ELL2):c.98A>G (p.Lys33Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003281683] |
Chr5:95961624 [GRCh38] Chr5:95297328 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.*1842G>A |
single nucleotide variant |
Monogenic Non-Syndromic Obesity [RCV000384857]|Obesity due to prohormone convertase I deficiency [RCV000325675] |
Chr5:96391159 [GRCh38] Chr5:95726863 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.*837G>A |
single nucleotide variant |
Monogenic Non-Syndromic Obesity [RCV000294746]|Obesity due to prohormone convertase I deficiency [RCV000351954] |
Chr5:96392164 [GRCh38] Chr5:95727868 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.-147C>G |
single nucleotide variant |
Monogenic Non-Syndromic Obesity [RCV000404347]|Obesity due to prohormone convertase I deficiency [RCV000296164] |
Chr5:96433189 [GRCh38] Chr5:95768893 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.180+15T>G |
single nucleotide variant |
not provided [RCV002601362] |
Chr5:96432848 [GRCh38] Chr5:95768552 [GRCh37] Chr5:5q15 |
likely benign |
NM_000439.5(PCSK1):c.*826del |
deletion |
Monogenic Non-Syndromic Obesity [RCV000406522]|Obesity due to prohormone convertase I deficiency [RCV000307625] |
Chr5:96392175 [GRCh38] Chr5:95727879 [GRCh37] Chr5:5q15 |
likely benign |
NM_000439.5(PCSK1):c.1381G>A (p.Val461Met) |
single nucleotide variant |
OBESITY (BMIQ12), SUSCEPTIBILITY TO [RCV002468439] |
Chr5:96400002 [GRCh38] Chr5:95735706 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.1414A>G (p.Asn472Asp) |
single nucleotide variant |
Monogenic Non-Syndromic Obesity [RCV000328137]|Obesity due to prohormone convertase I deficiency [RCV000270763] |
Chr5:96399969 [GRCh38] Chr5:95735673 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.284G>A (p.Arg95His) |
single nucleotide variant |
Monogenic Non-Syndromic Obesity [RCV000272404]|Obesity due to prohormone convertase I deficiency [RCV000364590] |
Chr5:96429214 [GRCh38] Chr5:95764918 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.1029C>G (p.Tyr343Ter) |
single nucleotide variant |
not provided [RCV002640737] |
Chr5:96410840 [GRCh38] Chr5:95746544 [GRCh37] Chr5:5q15 |
pathogenic |
NM_000439.5(PCSK1):c.772C>A (p.Pro258Thr) |
single nucleotide variant |
not provided [RCV002640738] |
Chr5:96412428 [GRCh38] Chr5:95748132 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.490A>G (p.Thr164Ala) |
single nucleotide variant |
not provided [RCV002640739] |
Chr5:96423366 [GRCh38] Chr5:95759070 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.238C>T (p.Arg80Ter) |
single nucleotide variant |
Obesity due to prohormone convertase I deficiency [RCV001290206] |
Chr5:96429260 [GRCh38] Chr5:95764964 [GRCh37] Chr5:5q15 |
pathogenic |
NM_000439.5(PCSK1):c.1923G>A (p.Leu641=) |
single nucleotide variant |
Monogenic Non-Syndromic Obesity [RCV000298180]|Obesity due to prohormone convertase I deficiency [RCV000355401]|not provided [RCV000969200] |
Chr5:96393340 [GRCh38] Chr5:95729044 [GRCh37] Chr5:5q15 |
benign|uncertain significance |
NM_000439.5(PCSK1):c.1196+10A>G |
single nucleotide variant |
Monogenic Non-Syndromic Obesity [RCV000322441]|Obesity due to prohormone convertase I deficiency [RCV000379399] |
Chr5:96408213 [GRCh38] Chr5:95743917 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.*262del |
deletion |
Monogenic Non-Syndromic Obesity [RCV000331249]|Obesity due to prohormone convertase I deficiency [RCV000273783] |
Chr5:96392739 [GRCh38] Chr5:95728443 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.*1571A>G |
single nucleotide variant |
Monogenic Non-Syndromic Obesity [RCV000376944]|Obesity due to prohormone convertase I deficiency [RCV000285319] |
Chr5:96391430 [GRCh38] Chr5:95727134 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_001750.7(CAST):c.1042G>T (p.Ala348Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003361589] |
Chr5:96741524 [GRCh38] Chr5:96077228 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.*1164T>C |
single nucleotide variant |
Monogenic Non-Syndromic Obesity [RCV000323230]|Obesity due to prohormone convertase I deficiency [RCV000380223] |
Chr5:96391837 [GRCh38] Chr5:95727541 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.414G>A (p.Thr138=) |
single nucleotide variant |
not provided [RCV002622424] |
Chr5:96423442 [GRCh38] Chr5:95759146 [GRCh37] Chr5:5q15 |
likely benign |
NM_000439.5(PCSK1):c.-137A>G |
single nucleotide variant |
Monogenic Non-Syndromic Obesity [RCV000318260]|Obesity due to prohormone convertase I deficiency [RCV000375165] |
Chr5:96433179 [GRCh38] Chr5:95768883 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.*1443C>T |
single nucleotide variant |
Monogenic Non-Syndromic Obesity [RCV000279298]|Obesity due to prohormone convertase I deficiency [RCV000336741] |
Chr5:96391558 [GRCh38] Chr5:95727262 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.*1414A>C |
single nucleotide variant |
Monogenic Non-Syndromic Obesity [RCV000395776]|Obesity due to prohormone convertase I deficiency [RCV000310993] |
Chr5:96391587 [GRCh38] Chr5:95727291 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.868T>C (p.Tyr290His) |
single nucleotide variant |
not provided [RCV002598211] |
Chr5:96412332 [GRCh38] Chr5:95748036 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.*88G>C |
single nucleotide variant |
Monogenic Non-Syndromic Obesity [RCV000288016]|Obesity due to prohormone convertase I deficiency [RCV000389448] |
Chr5:96392913 [GRCh38] Chr5:95728617 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.710-18_710-15del |
deletion |
not provided [RCV002583964] |
Chr5:96412505..96412508 [GRCh38] Chr5:95748209..95748212 [GRCh37] Chr5:5q15 |
likely benign |
NM_000439.5(PCSK1):c.1746A>G (p.Gly582=) |
single nucleotide variant |
not provided [RCV002598486] |
Chr5:96395002 [GRCh38] Chr5:95730706 [GRCh37] Chr5:5q15 |
likely benign |
NM_000439.5(PCSK1):c.-140C>T |
single nucleotide variant |
Monogenic Non-Syndromic Obesity [RCV000349980]|Obesity due to prohormone convertase I deficiency [RCV000292648] |
Chr5:96433182 [GRCh38] Chr5:95768886 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.*1041T>A |
single nucleotide variant |
Monogenic Non-Syndromic Obesity [RCV000374499]|Obesity due to prohormone convertase I deficiency [RCV000282367] |
Chr5:96391960 [GRCh38] Chr5:95727664 [GRCh37] Chr5:5q15 |
likely benign |
NM_000439.5(PCSK1):c.*1232G>A |
single nucleotide variant |
Monogenic Non-Syndromic Obesity [RCV000272141]|Obesity due to prohormone convertase I deficiency [RCV000329524] |
Chr5:96391769 [GRCh38] Chr5:95727473 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.1723-12C>T |
single nucleotide variant |
not provided [RCV002574391] |
Chr5:96395037 [GRCh38] Chr5:95730741 [GRCh37] Chr5:5q15 |
likely benign |
NM_000439.5(PCSK1):c.675C>T (p.Cys225=) |
single nucleotide variant |
not provided [RCV002586948] |
Chr5:96416067 [GRCh38] Chr5:95751771 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.*1733G>A |
single nucleotide variant |
Monogenic Non-Syndromic Obesity [RCV000290620]|Obesity due to prohormone convertase I deficiency [RCV000322249] |
Chr5:96391268 [GRCh38] Chr5:95726972 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.818del (p.Asp273fs) |
deletion |
Obesity due to prohormone convertase I deficiency [RCV003227576] |
Chr5:96412382 [GRCh38] Chr5:95748086 [GRCh37] Chr5:5q15 |
likely pathogenic |
NM_000439.5(PCSK1):c.323G>C (p.Ser108Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003295057] |
Chr5:96425893 [GRCh38] Chr5:95761597 [GRCh37] Chr5:5q15 |
likely benign |
NM_000439.5(PCSK1):c.*597T>C |
single nucleotide variant |
Monogenic Non-Syndromic Obesity [RCV000358756]|Obesity due to prohormone convertase I deficiency [RCV000301669] |
Chr5:96392404 [GRCh38] Chr5:95728108 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.*1912G>A |
single nucleotide variant |
Monogenic Non-Syndromic Obesity [RCV000333819]|Obesity due to prohormone convertase I deficiency [RCV000274002] |
Chr5:96391089 [GRCh38] Chr5:95726793 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.*2288A>G |
single nucleotide variant |
Monogenic Non-Syndromic Obesity [RCV000342865]|Obesity due to prohormone convertase I deficiency [RCV000298594] |
Chr5:96390713 [GRCh38] Chr5:95726417 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.1433C>A (p.Ala478Asp) |
single nucleotide variant |
not provided [RCV002619743] |
Chr5:96399034 [GRCh38] Chr5:95734738 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.638C>T (p.Ala213Val) |
single nucleotide variant |
OBESITY (BMIQ12), SUSCEPTIBILITY TO [RCV003228614] |
Chr5:96416104 [GRCh38] Chr5:95751808 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.1430+7A>G |
single nucleotide variant |
OBESITY (BMIQ12), SUSCEPTIBILITY TO [RCV003228638] |
Chr5:96399946 [GRCh38] Chr5:95735650 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.1673C>A (p.Thr558Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003239613] |
Chr5:96397385 [GRCh38] Chr5:95733089 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.1712T>A (p.Ile571Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003195675] |
Chr5:96397346 [GRCh38] Chr5:95733050 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.1688C>G (p.Pro563Arg) |
single nucleotide variant |
Obesity due to prohormone convertase I deficiency [RCV000995597] |
Chr5:96397370 [GRCh38] Chr5:95733074 [GRCh37] Chr5:5q15 |
likely pathogenic |
NM_001750.7(CAST):c.1373A>T (p.Asp458Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003383777] |
Chr5:96748558 [GRCh38] Chr5:96084262 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.700A>G (p.Lys234Glu) |
single nucleotide variant |
not provided [RCV000087170] |
Chr5:96416042 [GRCh38] Chr5:95751746 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_001750.7(CAST):c.230C>G (p.Ala77Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003365045] |
Chr5:96722658 [GRCh38] Chr5:96058362 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.*2166C>T |
single nucleotide variant |
Monogenic Non-Syndromic Obesity [RCV000353213]|Obesity due to prohormone convertase I deficiency [RCV000397671] |
Chr5:96390835 [GRCh38] Chr5:95726539 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.544-40_544-38del |
deletion |
not provided [RCV001527972] |
Chr5:96421994..96421996 [GRCh38] Chr5:95757698..95757700 [GRCh37] Chr5:5q15 |
benign |
NM_000439.5(PCSK1):c.709+11G>A |
single nucleotide variant |
Monogenic Non-Syndromic Obesity [RCV000395731]|Obesity due to prohormone convertase I deficiency [RCV000338489] |
Chr5:96416022 [GRCh38] Chr5:95751726 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.1692A>G (p.Ile564Met) |
single nucleotide variant |
Obesity due to prohormone convertase I deficiency [RCV001334451] |
Chr5:96397366 [GRCh38] Chr5:95733070 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.*737_*739dup |
duplication |
Monogenic Non-Syndromic Obesity [RCV000345988]|Obesity due to prohormone convertase I deficiency [RCV000395546] |
Chr5:96392261..96392262 [GRCh38] Chr5:95727965..95727966 [GRCh37] Chr5:5q15 |
likely benign |
NM_000439.5(PCSK1):c.2253G>A (p.Glu751=) |
single nucleotide variant |
Monogenic Non-Syndromic Obesity [RCV000383668]|Obesity due to prohormone convertase I deficiency [RCV000345441] |
Chr5:96393010 [GRCh38] Chr5:95728714 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.*905T>C |
single nucleotide variant |
Monogenic Non-Syndromic Obesity [RCV000387259]|Obesity due to prohormone convertase I deficiency [RCV000349069] |
Chr5:96392096 [GRCh38] Chr5:95727800 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_001750.7(CAST):c.1382G>T (p.Arg461Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003350415] |
Chr5:96748567 [GRCh38] Chr5:96084271 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.*1401C>T |
single nucleotide variant |
Monogenic Non-Syndromic Obesity [RCV000370187]|Obesity due to prohormone convertase I deficiency [RCV000395767] |
Chr5:96391600 [GRCh38] Chr5:95727304 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.397-260G>A |
single nucleotide variant |
not provided [RCV001541403] |
Chr5:96423719 [GRCh38] Chr5:95759423 [GRCh37] Chr5:5q15 |
benign |
NM_000439.5(PCSK1):c.*1530T>C |
single nucleotide variant |
Monogenic Non-Syndromic Obesity [RCV000342580]|Obesity due to prohormone convertase I deficiency [RCV000405998] |
Chr5:96391471 [GRCh38] Chr5:95727175 [GRCh37] Chr5:5q15 |
likely benign |
NM_000439.5(PCSK1):c.397-19C>T |
single nucleotide variant |
not provided [RCV002198533] |
Chr5:96423478 [GRCh38] Chr5:95759182 [GRCh37] Chr5:5q15 |
likely benign |
NM_000439.5(PCSK1):c.586C>T (p.Pro196Ser) |
single nucleotide variant |
not provided [RCV001863575] |
Chr5:96421914 [GRCh38] Chr5:95757618 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.1196+19C>G |
single nucleotide variant |
not provided [RCV002795812] |
Chr5:96408204 [GRCh38] Chr5:95743908 [GRCh37] Chr5:5q15 |
benign |
NM_000439.5(PCSK1):c.1686C>T (p.Asn562=) |
single nucleotide variant |
not provided [RCV002148003] |
Chr5:96397372 [GRCh38] Chr5:95733076 [GRCh37] Chr5:5q15 |
likely benign |
NM_000439.5(PCSK1):c.625G>A (p.Gly209Arg) |
single nucleotide variant |
not provided [RCV002664371] |
Chr5:96416117 [GRCh38] Chr5:95751821 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.1722+7G>A |
single nucleotide variant |
not provided [RCV002089967] |
Chr5:96397329 [GRCh38] Chr5:95733033 [GRCh37] Chr5:5q15 |
likely benign |
NM_000439.5(PCSK1):c.285+1G>A |
single nucleotide variant |
not provided [RCV002696258] |
Chr5:96429212 [GRCh38] Chr5:95764916 [GRCh37] Chr5:5q15 |
likely pathogenic |
NM_000439.5(PCSK1):c.910G>A (p.Val304Ile) |
single nucleotide variant |
not provided [RCV002904737] |
Chr5:96410959 [GRCh38] Chr5:95746663 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.2236G>A (p.Val746Met) |
single nucleotide variant |
not provided [RCV003007311] |
Chr5:96393027 [GRCh38] Chr5:95728731 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.80C>T (p.Ala27Val) |
single nucleotide variant |
not provided [RCV002927610] |
Chr5:96432963 [GRCh38] Chr5:95768667 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.180+2T>A |
single nucleotide variant |
not provided [RCV002943832] |
Chr5:96432861 [GRCh38] Chr5:95768565 [GRCh37] Chr5:5q15 |
likely pathogenic |
NM_000439.5(PCSK1):c.1405G>T (p.Val469Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002911146] |
Chr5:96399978 [GRCh38] Chr5:95735682 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_001750.7(CAST):c.454C>T (p.Gln152Ter) |
single nucleotide variant |
not provided [RCV003332464] |
Chr5:96729630 [GRCh38] Chr5:96065334 [GRCh37] Chr5:5q15 |
pathogenic |
NM_000439.5(PCSK1):c.1457T>C (p.Ile486Thr) |
single nucleotide variant |
not provided [RCV003047461] |
Chr5:96399010 [GRCh38] Chr5:95734714 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.1350G>C (p.Val450=) |
single nucleotide variant |
not provided [RCV003049399] |
Chr5:96400033 [GRCh38] Chr5:95735737 [GRCh37] Chr5:5q15 |
likely benign |
NM_000439.5(PCSK1):c.1034A>C (p.Glu345Ala) |
single nucleotide variant |
not specified [RCV000202686] |
Chr5:96410835 [GRCh38] Chr5:95746539 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.2145C>T (p.Asp715=) |
single nucleotide variant |
not provided [RCV000907005] |
Chr5:96393118 [GRCh38] Chr5:95728822 [GRCh37] Chr5:5q15 |
likely benign |
NM_000439.5(PCSK1):c.-96C>T |
single nucleotide variant |
Monogenic Non-Syndromic Obesity [RCV000323901]|Obesity due to prohormone convertase I deficiency [RCV000266381] |
Chr5:96433138 [GRCh38] Chr5:95768842 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.183T>C (p.Ile61=) |
single nucleotide variant |
not specified [RCV000502243] |
Chr5:96429315 [GRCh38] Chr5:95765019 [GRCh37] Chr5:5q15 |
likely benign |
NM_000439.5(PCSK1):c.1257G>A (p.Pro419=) |
single nucleotide variant |
not provided [RCV000979620] |
Chr5:96400126 [GRCh38] Chr5:95735830 [GRCh37] Chr5:5q15 |
likely benign |
NM_000439.5(PCSK1):c.1346T>C (p.Leu449Pro) |
single nucleotide variant |
Obesity due to prohormone convertase I deficiency [RCV000995598] |
Chr5:96400037 [GRCh38] Chr5:95735741 [GRCh37] Chr5:5q15 |
likely pathogenic |
NM_000439.5(PCSK1):c.1503C>T (p.Ile501=) |
single nucleotide variant |
Monogenic Non-Syndromic Obesity [RCV000363149]|Obesity due to prohormone convertase I deficiency [RCV000334133] |
Chr5:96398964 [GRCh38] Chr5:95734668 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.*1854T>A |
single nucleotide variant |
Monogenic Non-Syndromic Obesity [RCV000270498]|Obesity due to prohormone convertase I deficiency [RCV000369701] |
Chr5:96391147 [GRCh38] Chr5:95726851 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.*2019A>G |
single nucleotide variant |
Monogenic Non-Syndromic Obesity [RCV000299659]|Obesity due to prohormone convertase I deficiency [RCV000368351] |
Chr5:96390982 [GRCh38] Chr5:95726686 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.-21G>A |
single nucleotide variant |
Monogenic Non-Syndromic Obesity [RCV000358669]|Obesity due to prohormone convertase I deficiency [RCV000320312] |
Chr5:96433063 [GRCh38] Chr5:95768767 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.1387G>A (p.Glu463Lys) |
single nucleotide variant |
OBESITY (BMIQ12), SUSCEPTIBILITY TO [RCV002481578]|not provided [RCV000497715] |
Chr5:96399996 [GRCh38] Chr5:95735700 [GRCh37] Chr5:5q15 |
conflicting interpretations of pathogenicity|uncertain significance |
NM_000439.5(PCSK1):c.1124C>G (p.Thr375Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003272795] |
Chr5:96408295 [GRCh38] Chr5:95743999 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.*1333A>T |
single nucleotide variant |
Monogenic Non-Syndromic Obesity [RCV000307358]|Obesity due to prohormone convertase I deficiency [RCV000364374] |
Chr5:96391668 [GRCh38] Chr5:95727372 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.958G>C (p.Asp320His) |
single nucleotide variant |
Obesity due to prohormone convertase I deficiency [RCV000987545] |
Chr5:96410911 [GRCh38] Chr5:95746615 [GRCh37] Chr5:5q15 |
uncertain significance |
NM_000439.5(PCSK1):c.710-13T>C |
single nucleotide variant |
not provided [RCV002654390] |
Chr5:96412503 [GRCh38] Chr5:95748207 [GRCh37] Chr5:5q15 |
likely benign |