| NM_002979.5(SCP2):c.70-277A>G |
single nucleotide variant |
not provided [RCV001564168] |
Chr1:52941519 [GRCh38]
Chr1:53407191 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.550dup (p.Ile184fs) |
duplication |
Sterol carrier protein 2 deficiency [RCV000013658]|not provided [RCV002513018] |
Chr1:52974790..52974791 [GRCh38]
Chr1:53440462..53440463 [GRCh37]
Chr1:1p32.3 |
pathogenic |
| NM_002979.5(SCP2):c.1234A>G (p.Ser412Gly) |
single nucleotide variant |
Sterol carrier protein 2 deficiency [RCV001788340]|not provided [RCV000729872] |
Chr1:53015042 [GRCh38]
Chr1:53480714 [GRCh37]
Chr1:1p32.3 |
uncertain significance|not provided |
| NM_002979.5(SCP2):c.1264G>A (p.Val422Ile) |
single nucleotide variant |
not provided [RCV000729076] |
Chr1:53027997 [GRCh38]
Chr1:53493669 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| GRCh38/hg38 1p32.3-31.3(chr1:50222546-61618373)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051819]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051819]|See cases [RCV000051819] |
Chr1:50222546..61618373 [GRCh38]
Chr1:50688218..62084045 [GRCh37]
Chr1:50460805..61856633 [NCBI36]
Chr1:1p32.3-31.3 |
pathogenic |
| GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3 |
copy number gain |
See cases [RCV000051822] |
Chr1:52595352..76767765 [GRCh38]
Chr1:53061024..77233450 [GRCh37]
Chr1:52833612..77006038 [NCBI36]
Chr1:1p32.3-31.1 |
pathogenic |
| GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3 |
copy number gain |
See cases [RCV000141758] |
Chr1:52787503..67339873 [GRCh38]
Chr1:53253175..67805556 [GRCh37]
Chr1:53025763..67578144 [NCBI36]
Chr1:1p32.3-31.3 |
likely pathogenic |
| NM_002979.5(SCP2):c.*56A>G |
single nucleotide variant |
not provided [RCV001575769] |
Chr1:53050760 [GRCh38]
Chr1:53516432 [GRCh37]
Chr1:1p32.3 |
likely benign |
| GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 |
copy number loss |
not provided [RCV000762767] |
Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12 |
likely benign |
| NM_002979.5(SCP2):c.609A>G (p.Glu203=) |
single nucleotide variant |
not provided [RCV000675998]|not specified [RCV000326919] |
Chr1:52976704 [GRCh38]
Chr1:53442376 [GRCh37]
Chr1:1p32.3 |
benign |
| NM_002979.5(SCP2):c.687T>C (p.Asp229=) |
single nucleotide variant |
SCP2-related disorder [RCV003920117]|not provided [RCV000861185]|not specified [RCV000296427] |
Chr1:52978229 [GRCh38]
Chr1:53443901 [GRCh37]
Chr1:1p32.3 |
benign|likely benign|uncertain significance |
| NM_002979.5(SCP2):c.648T>C (p.Phe216=) |
single nucleotide variant |
not provided [RCV000337005] |
Chr1:52976743 [GRCh38]
Chr1:53442415 [GRCh37]
Chr1:1p32.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002979.5(SCP2):c.1468+229T>G |
single nucleotide variant |
not provided [RCV001565690] |
Chr1:53039275 [GRCh38]
Chr1:53504947 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.397-34C>G |
single nucleotide variant |
not provided [RCV001547734] |
Chr1:52961469 [GRCh38]
Chr1:53427141 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.348C>T (p.Val116=) |
single nucleotide variant |
not provided [RCV000591670] |
Chr1:52954756 [GRCh38]
Chr1:53420428 [GRCh37]
Chr1:1p32.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002979.5(SCP2):c.555A>G (p.Gly185=) |
single nucleotide variant |
not provided [RCV000592321] |
Chr1:52974800 [GRCh38]
Chr1:53440472 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.1280C>G (p.Ala427Gly) |
single nucleotide variant |
not provided [RCV000592703]|not specified [RCV004857722] |
Chr1:53028013 [GRCh38]
Chr1:53493685 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.900C>T (p.Asp300=) |
single nucleotide variant |
not provided [RCV000597467] |
Chr1:52980470 [GRCh38]
Chr1:53446142 [GRCh37]
Chr1:1p32.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002979.5(SCP2):c.1510T>C (p.Phe504Leu) |
single nucleotide variant |
not provided [RCV000730429] |
Chr1:53047899 [GRCh38]
Chr1:53513571 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.855A>G (p.Ala285=) |
single nucleotide variant |
SCP2-related disorder [RCV004730988]|not provided [RCV000597920] |
Chr1:52980425 [GRCh38]
Chr1:53446097 [GRCh37]
Chr1:1p32.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002979.5(SCP2):c.1632C>T (p.Asn544=) |
single nucleotide variant |
not provided [RCV000592065] |
Chr1:53050692 [GRCh38]
Chr1:53516364 [GRCh37]
Chr1:1p32.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002979.5(SCP2):c.443T>C (p.Ile148Thr) |
single nucleotide variant |
not provided [RCV000729964]|not specified [RCV004026982] |
Chr1:52961549 [GRCh38]
Chr1:53427221 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.468C>A (p.His156Gln) |
single nucleotide variant |
not provided [RCV000730021] |
Chr1:52961574 [GRCh38]
Chr1:53427246 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.1347A>G (p.Glu449=) |
single nucleotide variant |
not provided [RCV000730588] |
Chr1:53038925 [GRCh38]
Chr1:53504597 [GRCh37]
Chr1:1p32.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002979.5(SCP2):c.13C>G (p.Pro5Ala) |
single nucleotide variant |
not provided [RCV000731156] |
Chr1:52927409 [GRCh38]
Chr1:53393081 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.383_391del (p.Ser128_Gly130del) |
deletion |
not provided [RCV000730283] |
Chr1:52954787..52954795 [GRCh38]
Chr1:53420459..53420467 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.15G>T (p.Pro5=) |
single nucleotide variant |
not provided [RCV000732286] |
Chr1:52927411 [GRCh38]
Chr1:53393083 [GRCh37]
Chr1:1p32.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002979.5(SCP2):c.532A>G (p.Ile178Val) |
single nucleotide variant |
SCP2-related disorder [RCV004748956]|not provided [RCV000734505] |
Chr1:52974777 [GRCh38]
Chr1:53440449 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.901G>T (p.Val301Leu) |
single nucleotide variant |
not provided [RCV000728853]|not specified [RCV004857731] |
Chr1:52980471 [GRCh38]
Chr1:53446143 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.1074C>T (p.Gly358=) |
single nucleotide variant |
not provided [RCV000734819] |
Chr1:52988129 [GRCh38]
Chr1:53453801 [GRCh37]
Chr1:1p32.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002979.5(SCP2):c.157C>T (p.Pro53Ser) |
single nucleotide variant |
not provided [RCV000731654]|not specified [RCV004027016] |
Chr1:52948038 [GRCh38]
Chr1:53413710 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.769C>G (p.Gln257Glu) |
single nucleotide variant |
not provided [RCV000732699] |
Chr1:52978311 [GRCh38]
Chr1:53443983 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.731A>G (p.Lys244Arg) |
single nucleotide variant |
not provided [RCV000727981] |
Chr1:52978273 [GRCh38]
Chr1:53443945 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| GRCh37/hg19 1p32.3(chr1:51729573-55164001)x1 |
copy number loss |
See cases [RCV000447334] |
Chr1:51729573..55164001 [GRCh37]
Chr1:1p32.3 |
pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 |
copy number gain |
See cases [RCV000510383] |
Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1p32.3(chr1:53370010-54017544)x3 |
copy number gain |
See cases [RCV000511590] |
Chr1:53370010..54017544 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) |
copy number gain |
See cases [RCV000510926] |
Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| NM_002979.5(SCP2):c.825+1G>T |
single nucleotide variant |
SCP2-related disorder [RCV003409851]|Sterol carrier protein 2 deficiency [RCV000578448]|not provided [RCV001860007] |
Chr1:52978368 [GRCh38]
Chr1:53444040 [GRCh37]
Chr1:1p32.3 |
pathogenic|likely pathogenic |
| NM_002979.5(SCP2):c.531A>T (p.Lys177Asn) |
single nucleotide variant |
not provided [RCV000595750] |
Chr1:52974776 [GRCh38]
Chr1:53440448 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.675-6T>C |
single nucleotide variant |
not provided [RCV000675999]|not specified [RCV000596489] |
Chr1:52978211 [GRCh38]
Chr1:53443883 [GRCh37]
Chr1:1p32.3 |
benign|likely benign |
| NM_002979.5(SCP2):c.1469-10T>C |
single nucleotide variant |
SCP2-related disorder [RCV003905541]|not provided [RCV000597379] |
Chr1:53047848 [GRCh38]
Chr1:53513520 [GRCh37]
Chr1:1p32.3 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_002979.5(SCP2):c.703A>G (p.Ile235Val) |
single nucleotide variant |
not provided [RCV000597463] |
Chr1:52978245 [GRCh38]
Chr1:53443917 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.928A>G (p.Thr310Ala) |
single nucleotide variant |
not provided [RCV000596172] |
Chr1:52980498 [GRCh38]
Chr1:53446170 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.199G>A (p.Gly67Ser) |
single nucleotide variant |
Leukodystrophy [RCV003444609] |
Chr1:52948080 [GRCh38]
Chr1:53413752 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.974-18C>T |
single nucleotide variant |
not provided [RCV000676000] |
Chr1:52988011 [GRCh38]
Chr1:53453683 [GRCh37]
Chr1:1p32.3 |
benign |
| NM_002979.5(SCP2):c.1235+30G>A |
single nucleotide variant |
not provided [RCV000676003] |
Chr1:53015073 [GRCh38]
Chr1:53480745 [GRCh37]
Chr1:1p32.3 |
benign |
| NM_002979.5(SCP2):c.1468+17C>A |
single nucleotide variant |
not provided [RCV000676005] |
Chr1:53039063 [GRCh38]
Chr1:53504735 [GRCh37]
Chr1:1p32.3 |
benign|likely benign |
| NM_002979.5(SCP2):c.*7C>A |
single nucleotide variant |
not provided [RCV000676006] |
Chr1:53050711 [GRCh38]
Chr1:53516383 [GRCh37]
Chr1:1p32.3 |
benign |
| NM_002979.5(SCP2):c.1236-16A>G |
single nucleotide variant |
not provided [RCV000676004] |
Chr1:53027953 [GRCh38]
Chr1:53493625 [GRCh37]
Chr1:1p32.3 |
benign |
| NM_002979.5(SCP2):c.987G>T (p.Thr329=) |
single nucleotide variant |
not provided [RCV000676001] |
Chr1:52988042 [GRCh38]
Chr1:53453714 [GRCh37]
Chr1:1p32.3 |
benign |
| NM_002979.5(SCP2):c.1224G>A (p.Pro408=) |
single nucleotide variant |
SCP2-related disorder [RCV003907935]|not provided [RCV000676002] |
Chr1:53015032 [GRCh38]
Chr1:53480704 [GRCh37]
Chr1:1p32.3 |
benign|likely benign |
| NM_002979.5(SCP2):c.825G>T (p.Met275Ile) |
single nucleotide variant |
Sterol carrier protein 2 deficiency [RCV000709777] |
Chr1:52978367 [GRCh38]
Chr1:53444039 [GRCh37]
Chr1:1p32.3 |
not provided |
| NM_002979.5(SCP2):c.1339-266C>A |
single nucleotide variant |
not provided [RCV001539969] |
Chr1:53038651 [GRCh38]
Chr1:53504323 [GRCh37]
Chr1:1p32.3 |
likely benign |
| GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 |
copy number gain |
not provided [RCV000736295] |
Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 |
copy number gain |
not provided [RCV000736305] |
Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44 |
pathogenic |
| NM_002979.5(SCP2):c.-80A>T |
single nucleotide variant |
not provided [RCV001724514] |
Chr1:52927317 [GRCh38]
Chr1:53392989 [GRCh37]
Chr1:1p32.3 |
benign |
| NM_002979.5(SCP2):c.332-311G>A |
single nucleotide variant |
not provided [RCV001647813] |
Chr1:52954429 [GRCh38]
Chr1:53420101 [GRCh37]
Chr1:1p32.3 |
benign |
| NM_002979.5(SCP2):c.1081+5247C>T |
single nucleotide variant |
not provided [RCV001570297] |
Chr1:52993383 [GRCh38]
Chr1:53459055 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.-57C>T |
single nucleotide variant |
not provided [RCV001611797] |
Chr1:52927340 [GRCh38]
Chr1:53393012 [GRCh37]
Chr1:1p32.3 |
benign |
| NM_002979.5(SCP2):c.1236-210C>T |
single nucleotide variant |
not provided [RCV001551944] |
Chr1:53027759 [GRCh38]
Chr1:53493431 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1047A>C (p.Gly349=) |
single nucleotide variant |
not provided [RCV000982195] |
Chr1:52988102 [GRCh38]
Chr1:53453774 [GRCh37]
Chr1:1p32.3 |
likely benign |
| GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 |
copy number gain |
Global developmental delay [RCV000787285] |
Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1 |
uncertain significance |
| NM_002979.5(SCP2):c.128-10G>A |
single nucleotide variant |
not provided [RCV000861569] |
Chr1:52947999 [GRCh38]
Chr1:53413671 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1344G>A (p.Gly448=) |
single nucleotide variant |
not provided [RCV000938909] |
Chr1:53038922 [GRCh38]
Chr1:53504594 [GRCh37]
Chr1:1p32.3 |
likely benign |
| GRCh37/hg19 1p32.3(chr1:53039602-53734721)x3 |
copy number gain |
not provided [RCV001005094] |
Chr1:53039602..53734721 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.70-47del |
deletion |
Sterol carrier protein 2 deficiency [RCV000986321]|not provided [RCV001541801] |
Chr1:52941735 [GRCh38]
Chr1:53407407 [GRCh37]
Chr1:1p32.3 |
benign |
| NM_002979.5(SCP2):c.70-200A>G |
single nucleotide variant |
not provided [RCV001609082] |
Chr1:52941596 [GRCh38]
Chr1:53407268 [GRCh37]
Chr1:1p32.3 |
benign |
| NM_002979.5(SCP2):c.973+312C>T |
single nucleotide variant |
not provided [RCV001569223] |
Chr1:52980855 [GRCh38]
Chr1:53446527 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NC_000001.11:g.52926925G>T |
single nucleotide variant |
not provided [RCV001551351] |
Chr1:52926925 [GRCh38]
Chr1:53392597 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1548+186C>T |
single nucleotide variant |
not provided [RCV001570894] |
Chr1:53048123 [GRCh38]
Chr1:53513795 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1081+122A>T |
single nucleotide variant |
not provided [RCV001694356] |
Chr1:52988258 [GRCh38]
Chr1:53453930 [GRCh37]
Chr1:1p32.3 |
benign |
| NM_002979.5(SCP2):c.675-237dup |
duplication |
not provided [RCV001545270] |
Chr1:52977966..52977967 [GRCh38]
Chr1:53443638..53443639 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.974-61A>G |
single nucleotide variant |
not provided [RCV001617319] |
Chr1:52987968 [GRCh38]
Chr1:53453640 [GRCh37]
Chr1:1p32.3 |
benign |
| NM_002979.5(SCP2):c.1081+5373A>C |
single nucleotide variant |
not provided [RCV001694674] |
Chr1:52993509 [GRCh38]
Chr1:53459181 [GRCh37]
Chr1:1p32.3 |
benign |
| NM_002979.5(SCP2):c.974-43T>C |
single nucleotide variant |
not provided [RCV001614578] |
Chr1:52987986 [GRCh38]
Chr1:53453658 [GRCh37]
Chr1:1p32.3 |
benign |
| NM_002979.5(SCP2):c.674+286G>A |
single nucleotide variant |
not provided [RCV001574527] |
Chr1:52977055 [GRCh38]
Chr1:53442727 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.825+3A>G |
single nucleotide variant |
not provided [RCV001765157] |
Chr1:52978370 [GRCh38]
Chr1:53444042 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.675-95A>G |
single nucleotide variant |
not provided [RCV001720809] |
Chr1:52978122 [GRCh38]
Chr1:53443794 [GRCh37]
Chr1:1p32.3 |
benign |
| NM_002979.5(SCP2):c.203A>G (p.Asp68Gly) |
single nucleotide variant |
not provided [RCV000994004] |
Chr1:52950758 [GRCh38]
Chr1:53416430 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.1549-287G>A |
single nucleotide variant |
not provided [RCV001656191] |
Chr1:53050322 [GRCh38]
Chr1:53515994 [GRCh37]
Chr1:1p32.3 |
benign |
| NM_002979.5(SCP2):c.332-184G>T |
single nucleotide variant |
not provided [RCV001560801] |
Chr1:52954556 [GRCh38]
Chr1:53420228 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1469-142A>G |
single nucleotide variant |
not provided [RCV001594294] |
Chr1:53047716 [GRCh38]
Chr1:53513388 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.70-47dup |
duplication |
not provided [RCV001561430] |
Chr1:52941734..52941735 [GRCh38]
Chr1:53407406..53407407 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1339-178G>A |
single nucleotide variant |
not provided [RCV001621377] |
Chr1:53038739 [GRCh38]
Chr1:53504411 [GRCh37]
Chr1:1p32.3 |
benign |
| NM_002979.5(SCP2):c.331+285A>C |
single nucleotide variant |
not provided [RCV001539326] |
Chr1:52951171 [GRCh38]
Chr1:53416843 [GRCh37]
Chr1:1p32.3 |
benign |
| NM_002979.5(SCP2):c.1339-282G>A |
single nucleotide variant |
not provided [RCV001619552] |
Chr1:53038635 [GRCh38]
Chr1:53504307 [GRCh37]
Chr1:1p32.3 |
benign |
| NM_002979.5(SCP2):c.674+181A>G |
single nucleotide variant |
not provided [RCV001581638] |
Chr1:52976950 [GRCh38]
Chr1:53442622 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.523+288dup |
duplication |
not provided [RCV001598424] |
Chr1:52961910..52961911 [GRCh38]
Chr1:53427582..53427583 [GRCh37]
Chr1:1p32.3 |
benign |
| NM_002979.5(SCP2):c.331+163G>A |
single nucleotide variant |
not provided [RCV001673811] |
Chr1:52951049 [GRCh38]
Chr1:53416721 [GRCh37]
Chr1:1p32.3 |
benign |
| NM_002979.5(SCP2):c.1468+154C>T |
single nucleotide variant |
not provided [RCV001674881] |
Chr1:53039200 [GRCh38]
Chr1:53504872 [GRCh37]
Chr1:1p32.3 |
benign |
| NM_002979.5(SCP2):c.826-297A>G |
single nucleotide variant |
not provided [RCV001608215] |
Chr1:52980099 [GRCh38]
Chr1:53445771 [GRCh37]
Chr1:1p32.3 |
benign |
| NM_002979.5(SCP2):c.1236-245C>T |
single nucleotide variant |
not provided [RCV001710182] |
Chr1:53027724 [GRCh38]
Chr1:53493396 [GRCh37]
Chr1:1p32.3 |
benign |
| NM_002979.5(SCP2):c.70-50_70-47dup |
duplication |
not provided [RCV001669879] |
Chr1:52941734..52941735 [GRCh38]
Chr1:53407406..53407407 [GRCh37]
Chr1:1p32.3 |
benign |
| NM_002979.5(SCP2):c.396+238dup |
duplication |
not provided [RCV001650079] |
Chr1:52955035..52955036 [GRCh38]
Chr1:53420707..53420708 [GRCh37]
Chr1:1p32.3 |
benign |
| NM_002979.5(SCP2):c.1235+154C>T |
single nucleotide variant |
not provided [RCV001582988] |
Chr1:53015197 [GRCh38]
Chr1:53480869 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.675-237del |
deletion |
not provided [RCV001614939] |
Chr1:52977967 [GRCh38]
Chr1:53443639 [GRCh37]
Chr1:1p32.3 |
benign |
| NM_002979.5(SCP2):c.1236-215C>G |
single nucleotide variant |
not provided [RCV001691350] |
Chr1:53027754 [GRCh38]
Chr1:53493426 [GRCh37]
Chr1:1p32.3 |
benign |
| NM_002979.5(SCP2):c.1338+79G>T |
single nucleotide variant |
not provided [RCV001670547] |
Chr1:53028150 [GRCh38]
Chr1:53493822 [GRCh37]
Chr1:1p32.3 |
benign |
| NM_002979.5(SCP2):c.200-45C>G |
single nucleotide variant |
not provided [RCV001663294] |
Chr1:52950710 [GRCh38]
Chr1:53416382 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1081+214A>G |
single nucleotide variant |
not provided [RCV001564876] |
Chr1:52988350 [GRCh38]
Chr1:53454022 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.70-46T>A |
single nucleotide variant |
not provided [RCV001547001] |
Chr1:52941750 [GRCh38]
Chr1:53407422 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1236-101T>C |
single nucleotide variant |
not provided [RCV001685696] |
Chr1:53027868 [GRCh38]
Chr1:53493540 [GRCh37]
Chr1:1p32.3 |
benign |
| NM_002979.5(SCP2):c.55G>C (p.Val19Leu) |
single nucleotide variant |
not provided [RCV001041032] |
Chr1:52927451 [GRCh38]
Chr1:53393123 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.886C>T (p.Pro296Ser) |
single nucleotide variant |
Sterol carrier protein 2 deficiency [RCV001254819] |
Chr1:52980456 [GRCh38]
Chr1:53446128 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.70-66G>A |
single nucleotide variant |
not provided [RCV001527996] |
Chr1:52941730 [GRCh38]
Chr1:53407402 [GRCh37]
Chr1:1p32.3 |
benign |
| NM_002979.5(SCP2):c.1148G>C (p.Gly383Ala) |
single nucleotide variant |
not provided [RCV001350361] |
Chr1:53014956 [GRCh38]
Chr1:53480628 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.572A>G (p.His191Arg) |
single nucleotide variant |
Sterol carrier protein 2 deficiency [RCV001358209]|not provided [RCV001871949] |
Chr1:52974817 [GRCh38]
Chr1:53440489 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.1111C>T (p.Gln371Ter) |
single nucleotide variant |
SCP2-related disorder [RCV004731130]|Sterol carrier protein 2 deficiency [RCV001336527]|not provided [RCV001871890] |
Chr1:53014919 [GRCh38]
Chr1:53480591 [GRCh37]
Chr1:1p32.3 |
pathogenic |
| GRCh37/hg19 1p32.3-32.2(chr1:51941877-56688514) |
copy number loss |
Abnormality of the kidney [RCV001352641] |
Chr1:51941877..56688514 [GRCh37]
Chr1:1p32.3-32.2 |
pathogenic|likely pathogenic |
| NM_002979.5(SCP2):c.539A>G (p.His180Arg) |
single nucleotide variant |
not provided [RCV001318197] |
Chr1:52974784 [GRCh38]
Chr1:53440456 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.686A>G (p.Asp229Gly) |
single nucleotide variant |
Sensorineural hearing loss disorder [RCV001353214]|not provided [RCV002542840] |
Chr1:52978228 [GRCh38]
Chr1:53443900 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.523+220A>G |
single nucleotide variant |
not provided [RCV001535208] |
Chr1:52961849 [GRCh38]
Chr1:53427521 [GRCh37]
Chr1:1p32.3 |
benign |
| NM_002979.5(SCP2):c.1548+159C>G |
single nucleotide variant |
not provided [RCV001690710] |
Chr1:53048096 [GRCh38]
Chr1:53513768 [GRCh37]
Chr1:1p32.3 |
benign |
| NM_002979.5(SCP2):c.1236-172C>T |
single nucleotide variant |
not provided [RCV001593362] |
Chr1:53027797 [GRCh38]
Chr1:53493469 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1081+5248G>A |
single nucleotide variant |
not provided [RCV001586444] |
Chr1:52993384 [GRCh38]
Chr1:53459056 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.127+63A>G |
single nucleotide variant |
not provided [RCV001592727] |
Chr1:52941916 [GRCh38]
Chr1:53407588 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NC_000001.11:g.52927236A>G |
single nucleotide variant |
not provided [RCV001619452] |
Chr1:52927236 [GRCh38]
Chr1:53392908 [GRCh37]
Chr1:1p32.3 |
benign |
| NM_002979.5(SCP2):c.1469-107C>T |
single nucleotide variant |
not provided [RCV001669831] |
Chr1:53047751 [GRCh38]
Chr1:53513423 [GRCh37]
Chr1:1p32.3 |
benign |
| NM_002979.5(SCP2):c.973+151G>A |
single nucleotide variant |
not provided [RCV001584782] |
Chr1:52980694 [GRCh38]
Chr1:53446366 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1548+228G>C |
single nucleotide variant |
not provided [RCV001673378] |
Chr1:53048165 [GRCh38]
Chr1:53513837 [GRCh37]
Chr1:1p32.3 |
benign |
| NM_002979.5(SCP2):c.1338+77G>A |
single nucleotide variant |
not provided [RCV001649205] |
Chr1:53028148 [GRCh38]
Chr1:53493820 [GRCh37]
Chr1:1p32.3 |
benign |
| NM_002979.5(SCP2):c.1469-93T>C |
single nucleotide variant |
not provided [RCV001715476] |
Chr1:53047765 [GRCh38]
Chr1:53513437 [GRCh37]
Chr1:1p32.3 |
benign |
| NM_002979.5(SCP2):c.1549-264G>C |
single nucleotide variant |
not provided [RCV001696642] |
Chr1:53050345 [GRCh38]
Chr1:53516017 [GRCh37]
Chr1:1p32.3 |
benign |
| NM_002979.5(SCP2):c.826-100A>G |
single nucleotide variant |
not provided [RCV001694226] |
Chr1:52980296 [GRCh38]
Chr1:53445968 [GRCh37]
Chr1:1p32.3 |
benign |
| NM_002979.5(SCP2):c.70-278_70-277insCT |
insertion |
not provided [RCV001590427] |
Chr1:52941518..52941519 [GRCh38]
Chr1:53407190..53407191 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1338+89T>C |
single nucleotide variant |
not provided [RCV001592240] |
Chr1:53028160 [GRCh38]
Chr1:53493832 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1338+326T>G |
single nucleotide variant |
not provided [RCV001692603] |
Chr1:53028397 [GRCh38]
Chr1:53494069 [GRCh37]
Chr1:1p32.3 |
benign |
| NM_002979.5(SCP2):c.70-48_70-47dup |
duplication |
not provided [RCV002251638] |
Chr1:52941734..52941735 [GRCh38]
Chr1:53407406..53407407 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1187G>A (p.Gly396Glu) |
single nucleotide variant |
not provided [RCV001758461] |
Chr1:53014995 [GRCh38]
Chr1:53480667 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.136G>A (p.Ala46Thr) |
single nucleotide variant |
not provided [RCV001874479] |
Chr1:52948017 [GRCh38]
Chr1:53413689 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.509A>C (p.His170Pro) |
single nucleotide variant |
not provided [RCV001929378] |
Chr1:52961615 [GRCh38]
Chr1:53427287 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.838dup (p.Met280fs) |
duplication |
not provided [RCV001911528] |
Chr1:52980407..52980408 [GRCh38]
Chr1:53446079..53446080 [GRCh37]
Chr1:1p32.3 |
pathogenic |
| NM_002979.5(SCP2):c.1081+4_1081+5del |
deletion |
not provided [RCV002025610] |
Chr1:52988140..52988141 [GRCh38]
Chr1:53453812..53453813 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.230A>G (p.Tyr77Cys) |
single nucleotide variant |
Sterol carrier protein 2 deficiency [RCV005025648]|not provided [RCV002022946]|not specified [RCV004857875] |
Chr1:52950785 [GRCh38]
Chr1:53416457 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.1250A>C (p.His417Pro) |
single nucleotide variant |
not provided [RCV001911756] |
Chr1:53027983 [GRCh38]
Chr1:53493655 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.1387G>A (p.Val463Met) |
single nucleotide variant |
not provided [RCV001874580]|not specified [RCV004040463] |
Chr1:53038965 [GRCh38]
Chr1:53504637 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.176A>G (p.Gln59Arg) |
single nucleotide variant |
not provided [RCV002044403] |
Chr1:52948057 [GRCh38]
Chr1:53413729 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.313C>T (p.Arg105Cys) |
single nucleotide variant |
not provided [RCV002008652]|not specified [RCV004043277] |
Chr1:52950868 [GRCh38]
Chr1:53416540 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.11C>G (p.Ser4Cys) |
single nucleotide variant |
not provided [RCV001971679] |
Chr1:52927407 [GRCh38]
Chr1:53393079 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.1587G>C (p.Met529Ile) |
single nucleotide variant |
not provided [RCV002040236] |
Chr1:53050647 [GRCh38]
Chr1:53516319 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.906A>G (p.Ile302Met) |
single nucleotide variant |
not provided [RCV001965028]|not specified [RCV004043005] |
Chr1:52980476 [GRCh38]
Chr1:53446148 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.325C>T (p.Gln109Ter) |
single nucleotide variant |
not provided [RCV001871075] |
Chr1:52950880 [GRCh38]
Chr1:53416552 [GRCh37]
Chr1:1p32.3 |
pathogenic |
| NM_002979.5(SCP2):c.1210A>C (p.Lys404Gln) |
single nucleotide variant |
not provided [RCV002040421] |
Chr1:53015018 [GRCh38]
Chr1:53480690 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.1075G>A (p.Ala359Thr) |
single nucleotide variant |
not provided [RCV002041694] |
Chr1:52988130 [GRCh38]
Chr1:53453802 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.1338G>A (p.Glu446=) |
single nucleotide variant |
not provided [RCV001894269] |
Chr1:53028071 [GRCh38]
Chr1:53493743 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.1370G>A (p.Gly457Asp) |
single nucleotide variant |
not provided [RCV002040756] |
Chr1:53038948 [GRCh38]
Chr1:53504620 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.986C>T (p.Thr329Met) |
single nucleotide variant |
SCP2-related disorder [RCV003407853]|not provided [RCV001872523] |
Chr1:52988041 [GRCh38]
Chr1:53453713 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.901G>A (p.Val301Ile) |
single nucleotide variant |
not provided [RCV002041025] |
Chr1:52980471 [GRCh38]
Chr1:53446143 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.1087G>C (p.Ala363Pro) |
single nucleotide variant |
not provided [RCV001892664] |
Chr1:53014895 [GRCh38]
Chr1:53480567 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.1125A>C (p.Glu375Asp) |
single nucleotide variant |
not provided [RCV002008055] |
Chr1:53014933 [GRCh38]
Chr1:53480605 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.481C>T (p.Gln161Ter) |
single nucleotide variant |
not provided [RCV002007348] |
Chr1:52961587 [GRCh38]
Chr1:53427259 [GRCh37]
Chr1:1p32.3 |
pathogenic |
| NM_002979.5(SCP2):c.825G>C (p.Met275Ile) |
single nucleotide variant |
not provided [RCV001912132] |
Chr1:52978367 [GRCh38]
Chr1:53444039 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.1592_1593dup (p.Ala532fs) |
microsatellite |
not provided [RCV002007101] |
Chr1:53050649..53050650 [GRCh38]
Chr1:53516321..53516322 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.134A>G (p.Lys45Arg) |
single nucleotide variant |
not provided [RCV002020433] |
Chr1:52948015 [GRCh38]
Chr1:53413687 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.511A>G (p.Met171Val) |
single nucleotide variant |
not provided [RCV002040344] |
Chr1:52961617 [GRCh38]
Chr1:53427289 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.1415C>T (p.Ala472Val) |
single nucleotide variant |
not provided [RCV002003294] |
Chr1:53038993 [GRCh38]
Chr1:53504665 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.310G>A (p.Ala104Thr) |
single nucleotide variant |
not provided [RCV001983719] |
Chr1:52950865 [GRCh38]
Chr1:53416537 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.1082-1G>C |
single nucleotide variant |
not provided [RCV002028172] |
Chr1:53014889 [GRCh38]
Chr1:53480561 [GRCh37]
Chr1:1p32.3 |
likely pathogenic |
| NM_002979.5(SCP2):c.1286A>G (p.Asp429Gly) |
single nucleotide variant |
not provided [RCV001961898] |
Chr1:53028019 [GRCh38]
Chr1:53493691 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.409A>G (p.Thr137Ala) |
single nucleotide variant |
not provided [RCV001962496] |
Chr1:52961515 [GRCh38]
Chr1:53427187 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.215G>A (p.Gly72Glu) |
single nucleotide variant |
not provided [RCV001975711] |
Chr1:52950770 [GRCh38]
Chr1:53416442 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.1277C>G (p.Ser426Cys) |
single nucleotide variant |
not provided [RCV001888715] |
Chr1:53028010 [GRCh38]
Chr1:53493682 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.752C>G (p.Ala251Gly) |
single nucleotide variant |
not provided [RCV002017339] |
Chr1:52978294 [GRCh38]
Chr1:53443966 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.1179C>T (p.Gly393=) |
single nucleotide variant |
not provided [RCV001996335] |
Chr1:53014987 [GRCh38]
Chr1:53480659 [GRCh37]
Chr1:1p32.3 |
likely benign|uncertain significance |
| NM_002979.5(SCP2):c.956_957insTATG (p.Gly320fs) |
insertion |
not provided [RCV001958877] |
Chr1:52980526..52980527 [GRCh38]
Chr1:53446198..53446199 [GRCh37]
Chr1:1p32.3 |
pathogenic |
| NM_002979.5(SCP2):c.1258G>A (p.Glu420Lys) |
single nucleotide variant |
not provided [RCV001960280] |
Chr1:53027991 [GRCh38]
Chr1:53493663 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.1003G>T (p.Asp335Tyr) |
single nucleotide variant |
not provided [RCV002035560] |
Chr1:52988058 [GRCh38]
Chr1:53453730 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.523+3A>G |
single nucleotide variant |
not provided [RCV001921681] |
Chr1:52961632 [GRCh38]
Chr1:53427304 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.128G>A (p.Gly43Asp) |
single nucleotide variant |
not provided [RCV001919080] |
Chr1:52948009 [GRCh38]
Chr1:53413681 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.979G>A (p.Gly327Ser) |
single nucleotide variant |
not provided [RCV001870286] |
Chr1:52988034 [GRCh38]
Chr1:53453706 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.838A>G (p.Met280Val) |
single nucleotide variant |
not provided [RCV001932343]|not specified [RCV004857822] |
Chr1:52980408 [GRCh38]
Chr1:53446080 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.1328A>G (p.Lys443Arg) |
single nucleotide variant |
not provided [RCV001994952] |
Chr1:53028061 [GRCh38]
Chr1:53493733 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.934G>A (p.Glu312Lys) |
single nucleotide variant |
SCP2-related disorder [RCV003892892]|not provided [RCV002049542]|not specified [RCV004857817] |
Chr1:52980504 [GRCh38]
Chr1:53446176 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.587C>T (p.Pro196Leu) |
single nucleotide variant |
not provided [RCV001974055] |
Chr1:52974832 [GRCh38]
Chr1:53440504 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.839T>C (p.Met280Thr) |
single nucleotide variant |
not provided [RCV002030875] |
Chr1:52980409 [GRCh38]
Chr1:53446081 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NC_000001.10:g.(?_53153392)_(53493763_?)dup |
duplication |
not provided [RCV001877735] |
Chr1:53153392..53493763 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.1049T>C (p.Leu350Pro) |
single nucleotide variant |
not provided [RCV001877801] |
Chr1:52988104 [GRCh38]
Chr1:53453776 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.712A>T (p.Ser238Cys) |
single nucleotide variant |
not provided [RCV002048543] |
Chr1:52978254 [GRCh38]
Chr1:53443926 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.1429G>A (p.Asp477Asn) |
single nucleotide variant |
not provided [RCV001922052] |
Chr1:53039007 [GRCh38]
Chr1:53504679 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.38G>A (p.Arg13Gln) |
single nucleotide variant |
not provided [RCV001991703] |
Chr1:52927434 [GRCh38]
Chr1:53393106 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.35G>T (p.Arg12Leu) |
single nucleotide variant |
not provided [RCV002009792] |
Chr1:52927431 [GRCh38]
Chr1:53393103 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.57T>A (p.Val19=) |
single nucleotide variant |
not provided [RCV001976184] |
Chr1:52927453 [GRCh38]
Chr1:53393125 [GRCh37]
Chr1:1p32.3 |
likely benign|uncertain significance |
| NM_002979.5(SCP2):c.278A>G (p.Asn93Ser) |
single nucleotide variant |
not provided [RCV001918725]|not specified [RCV004043310] |
Chr1:52950833 [GRCh38]
Chr1:53416505 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.866A>T (p.Tyr289Phe) |
single nucleotide variant |
not provided [RCV002013929] |
Chr1:52980436 [GRCh38]
Chr1:53446108 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.103_125dup (p.Gly43fs) |
duplication |
not provided [RCV001883150] |
Chr1:52941827..52941828 [GRCh38]
Chr1:53407499..53407500 [GRCh37]
Chr1:1p32.3 |
pathogenic |
| NM_002979.5(SCP2):c.825+4T>G |
single nucleotide variant |
not provided [RCV002034217] |
Chr1:52978371 [GRCh38]
Chr1:53444043 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.842G>A (p.Ser281Asn) |
single nucleotide variant |
not provided [RCV002026856] |
Chr1:52980412 [GRCh38]
Chr1:53446084 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.1076C>T (p.Ala359Val) |
single nucleotide variant |
not provided [RCV001880325]|not specified [RCV004857819] |
Chr1:52988131 [GRCh38]
Chr1:53453803 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.199+4T>C |
single nucleotide variant |
not provided [RCV001903853] |
Chr1:52948084 [GRCh38]
Chr1:53413756 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.8C>T (p.Ser3Phe) |
single nucleotide variant |
not provided [RCV001975602] |
Chr1:52927404 [GRCh38]
Chr1:53393076 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.1006A>G (p.Asn336Asp) |
single nucleotide variant |
not provided [RCV002034378] |
Chr1:52988061 [GRCh38]
Chr1:53453733 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.104A>G (p.Tyr35Cys) |
single nucleotide variant |
not provided [RCV001953384] |
Chr1:52941830 [GRCh38]
Chr1:53407502 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.469C>G (p.Pro157Ala) |
single nucleotide variant |
not provided [RCV002009457] |
Chr1:52961575 [GRCh38]
Chr1:53427247 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.1155G>T (p.Lys385Asn) |
single nucleotide variant |
not provided [RCV001979021] |
Chr1:53014963 [GRCh38]
Chr1:53480635 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.340G>C (p.Glu114Gln) |
single nucleotide variant |
not provided [RCV002035804] |
Chr1:52954748 [GRCh38]
Chr1:53420420 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.974-3T>C |
single nucleotide variant |
SCP2-related disorder [RCV003956429]|not provided [RCV001917201] |
Chr1:52988026 [GRCh38]
Chr1:53453698 [GRCh37]
Chr1:1p32.3 |
likely benign|uncertain significance |
| NM_002979.5(SCP2):c.446A>G (p.Asn149Ser) |
single nucleotide variant |
not provided [RCV002033334] |
Chr1:52961552 [GRCh38]
Chr1:53427224 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.137C>T (p.Ala46Val) |
single nucleotide variant |
not provided [RCV001903234] |
Chr1:52948018 [GRCh38]
Chr1:53413690 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.972A>T (p.Glu324Asp) |
single nucleotide variant |
not provided [RCV001990743] |
Chr1:52980542 [GRCh38]
Chr1:53446214 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.167C>T (p.Ala56Val) |
single nucleotide variant |
not provided [RCV001981052] |
Chr1:52948048 [GRCh38]
Chr1:53413720 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.1079C>T (p.Thr360Ile) |
single nucleotide variant |
not provided [RCV002017497] |
Chr1:52988134 [GRCh38]
Chr1:53453806 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.1059G>A (p.Lys353=) |
single nucleotide variant |
not provided [RCV001980679] |
Chr1:52988114 [GRCh38]
Chr1:53453786 [GRCh37]
Chr1:1p32.3 |
likely benign|uncertain significance |
| NM_002979.5(SCP2):c.659C>T (p.Thr220Ile) |
single nucleotide variant |
not provided [RCV001939287] |
Chr1:52976754 [GRCh38]
Chr1:53442426 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.483G>C (p.Gln161His) |
single nucleotide variant |
not provided [RCV001905787] |
Chr1:52961589 [GRCh38]
Chr1:53427261 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.5C>T (p.Ser2Phe) |
single nucleotide variant |
not provided [RCV001998919] |
Chr1:52927401 [GRCh38]
Chr1:53393073 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.884C>A (p.Thr295Lys) |
single nucleotide variant |
SCP2-related disorder [RCV003923365]|not provided [RCV001935702]|not specified [RCV004043530] |
Chr1:52980454 [GRCh38]
Chr1:53446126 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.124G>A (p.Ala42Thr) |
single nucleotide variant |
not provided [RCV001920359] |
Chr1:52941850 [GRCh38]
Chr1:53407522 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.1081+4A>G |
single nucleotide variant |
not provided [RCV002033345] |
Chr1:52988140 [GRCh38]
Chr1:53453812 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.1211A>G (p.Lys404Arg) |
single nucleotide variant |
not provided [RCV001904300]|not specified [RCV004039681] |
Chr1:53015019 [GRCh38]
Chr1:53480691 [GRCh37]
Chr1:1p32.3 |
likely benign|uncertain significance |
| NM_002979.5(SCP2):c.303G>T (p.Leu101Phe) |
single nucleotide variant |
not provided [RCV001932576] |
Chr1:52950858 [GRCh38]
Chr1:53416530 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.1235+6T>C |
single nucleotide variant |
not provided [RCV001934423] |
Chr1:53015049 [GRCh38]
Chr1:53480721 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.220A>T (p.Arg74Trp) |
single nucleotide variant |
not provided [RCV001931918] |
Chr1:52950775 [GRCh38]
Chr1:53416447 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.1506A>C (p.Ser502=) |
single nucleotide variant |
not provided [RCV001954285] |
Chr1:53047895 [GRCh38]
Chr1:53513567 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.896T>C (p.Ile299Thr) |
single nucleotide variant |
not provided [RCV001897789]|not specified [RCV004041336] |
Chr1:52980466 [GRCh38]
Chr1:53446138 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.1236-7del |
deletion |
not provided [RCV002186254] |
Chr1:53027959 [GRCh38]
Chr1:53493631 [GRCh37]
Chr1:1p32.3 |
benign |
| NM_002979.5(SCP2):c.1081+8T>C |
single nucleotide variant |
not provided [RCV002206916] |
Chr1:52988144 [GRCh38]
Chr1:53453816 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1339-16T>A |
single nucleotide variant |
not provided [RCV002186619] |
Chr1:53038901 [GRCh38]
Chr1:53504573 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.69+18C>T |
single nucleotide variant |
not provided [RCV002072787] |
Chr1:52927483 [GRCh38]
Chr1:53393155 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1230C>T (p.Ala410=) |
single nucleotide variant |
not provided [RCV002170474] |
Chr1:53015038 [GRCh38]
Chr1:53480710 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.588-8G>A |
single nucleotide variant |
not provided [RCV002091625] |
Chr1:52976675 [GRCh38]
Chr1:53442347 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1468+13A>G |
single nucleotide variant |
not provided [RCV002207823] |
Chr1:53039059 [GRCh38]
Chr1:53504731 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1116G>A (p.Leu372=) |
single nucleotide variant |
SCP2-related disorder [RCV003978621]|not provided [RCV002111114] |
Chr1:53014924 [GRCh38]
Chr1:53480596 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.397-7C>T |
single nucleotide variant |
not provided [RCV002148158] |
Chr1:52961496 [GRCh38]
Chr1:53427168 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.831C>T (p.Gly277=) |
single nucleotide variant |
not provided [RCV002185368] |
Chr1:52980401 [GRCh38]
Chr1:53446073 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.974-4A>G |
single nucleotide variant |
not provided [RCV002191370] |
Chr1:52988025 [GRCh38]
Chr1:53453697 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.973+15T>G |
single nucleotide variant |
Sterol carrier protein 2 deficiency [RCV002508046]|not provided [RCV002152976] |
Chr1:52980558 [GRCh38]
Chr1:53446230 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1339-5T>C |
single nucleotide variant |
not provided [RCV002148008] |
Chr1:53038912 [GRCh38]
Chr1:53504584 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.603A>G (p.Gln201=) |
single nucleotide variant |
not provided [RCV002149832] |
Chr1:52976698 [GRCh38]
Chr1:53442370 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1235+10A>G |
single nucleotide variant |
not provided [RCV002144711] |
Chr1:53015053 [GRCh38]
Chr1:53480725 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1206C>G (p.Leu402=) |
single nucleotide variant |
SCP2-related disorder [RCV003951135]|not provided [RCV002149831] |
Chr1:53015014 [GRCh38]
Chr1:53480686 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.69+18C>G |
single nucleotide variant |
not provided [RCV002153788] |
Chr1:52927483 [GRCh38]
Chr1:53393155 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.332-14C>T |
single nucleotide variant |
not provided [RCV002131858] |
Chr1:52954726 [GRCh38]
Chr1:53420398 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.480T>C (p.Pro160=) |
single nucleotide variant |
not provided [RCV002135038] |
Chr1:52961586 [GRCh38]
Chr1:53427258 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1082-10G>T |
single nucleotide variant |
not provided [RCV002080856] |
Chr1:53014880 [GRCh38]
Chr1:53480552 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1218T>G (p.Gly406=) |
single nucleotide variant |
not provided [RCV002093497] |
Chr1:53015026 [GRCh38]
Chr1:53480698 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.423T>C (p.Asp141=) |
single nucleotide variant |
not provided [RCV002214695] |
Chr1:52961529 [GRCh38]
Chr1:53427201 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1503C>T (p.Asp501=) |
single nucleotide variant |
not provided [RCV002195880] |
Chr1:53047892 [GRCh38]
Chr1:53513564 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.200-6A>G |
single nucleotide variant |
not provided [RCV002078781] |
Chr1:52950749 [GRCh38]
Chr1:53416421 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.696A>C (p.Ala232=) |
single nucleotide variant |
not provided [RCV002151789] |
Chr1:52978238 [GRCh38]
Chr1:53443910 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.585C>T (p.Asn195=) |
single nucleotide variant |
not provided [RCV002173103] |
Chr1:52974830 [GRCh38]
Chr1:53440502 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1338+8T>G |
single nucleotide variant |
SCP2-related disorder [RCV004749847]|not provided [RCV002190620] |
Chr1:53028079 [GRCh38]
Chr1:53493751 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.128-11C>T |
single nucleotide variant |
not provided [RCV002077823] |
Chr1:52947998 [GRCh38]
Chr1:53413670 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1338+11T>C |
single nucleotide variant |
not provided [RCV002195162] |
Chr1:53028082 [GRCh38]
Chr1:53493754 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.332-13G>A |
single nucleotide variant |
not provided [RCV002185585] |
Chr1:52954727 [GRCh38]
Chr1:53420399 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.523+12T>C |
single nucleotide variant |
not provided [RCV002213007] |
Chr1:52961641 [GRCh38]
Chr1:53427313 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.102C>T (p.Asp34=) |
single nucleotide variant |
not provided [RCV002119298] |
Chr1:52941828 [GRCh38]
Chr1:53407500 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.825+15C>A |
single nucleotide variant |
not provided [RCV002200360] |
Chr1:52978382 [GRCh38]
Chr1:53444054 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1338+10A>G |
single nucleotide variant |
not provided [RCV002204140] |
Chr1:53028081 [GRCh38]
Chr1:53493753 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1549-4A>C |
single nucleotide variant |
not provided [RCV002204250] |
Chr1:53050605 [GRCh38]
Chr1:53516277 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1194G>A (p.Val398=) |
single nucleotide variant |
not provided [RCV002204271] |
Chr1:53015002 [GRCh38]
Chr1:53480674 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.432T>C (p.Val144=) |
single nucleotide variant |
SCP2-related disorder [RCV004749877]|not provided [RCV002200649] |
Chr1:52961538 [GRCh38]
Chr1:53427210 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1549-13T>C |
single nucleotide variant |
not provided [RCV002155775] |
Chr1:53050596 [GRCh38]
Chr1:53516268 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.957G>A (p.Leu319=) |
single nucleotide variant |
not provided [RCV002203483] |
Chr1:52980527 [GRCh38]
Chr1:53446199 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.69+14C>T |
single nucleotide variant |
not provided [RCV002216486] |
Chr1:52927479 [GRCh38]
Chr1:53393151 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.570A>G (p.Lys190=) |
single nucleotide variant |
not provided [RCV002144412] |
Chr1:52974815 [GRCh38]
Chr1:53440487 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.825+15C>T |
single nucleotide variant |
not provided [RCV002154498] |
Chr1:52978382 [GRCh38]
Chr1:53444054 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.450G>A (p.Lys150=) |
single nucleotide variant |
not provided [RCV002136120] |
Chr1:52961556 [GRCh38]
Chr1:53427228 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.729G>A (p.Gln243=) |
single nucleotide variant |
not provided [RCV002219355] |
Chr1:52978271 [GRCh38]
Chr1:53443943 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.70-10A>G |
single nucleotide variant |
not provided [RCV002143886] |
Chr1:52941786 [GRCh38]
Chr1:53407458 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1551C>T (p.Ala517=) |
single nucleotide variant |
not provided [RCV002182295] |
Chr1:53050611 [GRCh38]
Chr1:53516283 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.354T>G (p.Ala118=) |
single nucleotide variant |
not provided [RCV002179163] |
Chr1:52954762 [GRCh38]
Chr1:53420434 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1374T>C (p.Ile458=) |
single nucleotide variant |
not provided [RCV002180584] |
Chr1:53038952 [GRCh38]
Chr1:53504624 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.69+7C>A |
single nucleotide variant |
not provided [RCV002157156] |
Chr1:52927472 [GRCh38]
Chr1:53393144 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1053T>A (p.Ile351=) |
single nucleotide variant |
not provided [RCV002178743] |
Chr1:52988108 [GRCh38]
Chr1:53453780 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.540C>T (p.His180=) |
single nucleotide variant |
not provided [RCV002139409] |
Chr1:52974785 [GRCh38]
Chr1:53440457 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.135G>A (p.Lys45=) |
single nucleotide variant |
not provided [RCV002140950] |
Chr1:52948016 [GRCh38]
Chr1:53413688 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.127+14T>C |
single nucleotide variant |
not provided [RCV002100353] |
Chr1:52941867 [GRCh38]
Chr1:53407539 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1339-9T>A |
single nucleotide variant |
not provided [RCV002220963] |
Chr1:53038908 [GRCh38]
Chr1:53504580 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.21G>A (p.Glu7=) |
single nucleotide variant |
SCP2-related disorder [RCV004731243]|not provided [RCV002181143] |
Chr1:52927417 [GRCh38]
Chr1:53393089 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1545G>A (p.Gln515=) |
single nucleotide variant |
not provided [RCV002183749] |
Chr1:53047934 [GRCh38]
Chr1:53513606 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1176A>G (p.Leu392=) |
single nucleotide variant |
not provided [RCV002183874] |
Chr1:53014984 [GRCh38]
Chr1:53480656 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.69+15G>T |
single nucleotide variant |
not provided [RCV002184072] |
Chr1:52927480 [GRCh38]
Chr1:53393152 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1593C>T (p.Leu531=) |
single nucleotide variant |
SCP2-related disorder [RCV004749880]|not provided [RCV002181849] |
Chr1:53050653 [GRCh38]
Chr1:53516325 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.69+10G>A |
single nucleotide variant |
not provided [RCV002119067] |
Chr1:52927475 [GRCh38]
Chr1:53393147 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1380C>T (p.Ala460=) |
single nucleotide variant |
not provided [RCV002157400] |
Chr1:53038958 [GRCh38]
Chr1:53504630 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1593C>A (p.Leu531=) |
single nucleotide variant |
not provided [RCV002201553] |
Chr1:53050653 [GRCh38]
Chr1:53516325 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.675-17T>C |
single nucleotide variant |
not provided [RCV002157773] |
Chr1:52978200 [GRCh38]
Chr1:53443872 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.826-7G>C |
single nucleotide variant |
not provided [RCV003114147] |
Chr1:52980389 [GRCh38]
Chr1:53446061 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NC_000001.10:g.(?_53407448)_(53407545_?)del |
deletion |
not provided [RCV003113171] |
Chr1:53407448..53407545 [GRCh37]
Chr1:1p32.3 |
pathogenic |
| NC_000001.10:g.(?_53407448)_(53446235_?)del |
deletion |
not provided [RCV003113172] |
Chr1:53407448..53446235 [GRCh37]
Chr1:1p32.3 |
pathogenic |
| NC_000001.10:g.(?_53393069)_(53420496_?)dup |
duplication |
not provided [RCV003113173] |
Chr1:53393069..53420496 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NC_000001.10:g.(?_53413661)_(53516376_?)dup |
duplication |
not provided [RCV003113174] |
Chr1:53413661..53516376 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.933C>T (p.Asn311=) |
single nucleotide variant |
SCP2-related disorder [RCV003984348]|not provided [RCV003114769] |
Chr1:52980503 [GRCh38]
Chr1:53446175 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.332-23A>G |
single nucleotide variant |
not provided [RCV002283329] |
Chr1:52954717 [GRCh38]
Chr1:53420389 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.191_192del (p.Tyr64fs) |
deletion |
not provided [RCV002261790] |
Chr1:52948071..52948072 [GRCh38]
Chr1:53413743..53413744 [GRCh37]
Chr1:1p32.3 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_002979.5(SCP2):c.1619T>C (p.Leu540Pro) |
single nucleotide variant |
not provided [RCV002304291] |
Chr1:53050679 [GRCh38]
Chr1:53516351 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.370A>G (p.Met124Val) |
single nucleotide variant |
not provided [RCV002304742] |
Chr1:52954778 [GRCh38]
Chr1:53420450 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.921C>G (p.Cys307Trp) |
single nucleotide variant |
not provided [RCV002303661] |
Chr1:52980491 [GRCh38]
Chr1:53446163 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.1342G>A (p.Gly448Arg) |
single nucleotide variant |
not provided [RCV002296077] |
Chr1:53038920 [GRCh38]
Chr1:53504592 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.291T>G (p.Gly97=) |
single nucleotide variant |
not provided [RCV002880750] |
Chr1:52950846 [GRCh38]
Chr1:53416518 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.396+20A>G |
single nucleotide variant |
not provided [RCV002858702] |
Chr1:52954824 [GRCh38]
Chr1:53420496 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.200-5T>C |
single nucleotide variant |
not provided [RCV002838611] |
Chr1:52950750 [GRCh38]
Chr1:53416422 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.588-9del |
deletion |
not provided [RCV002904353] |
Chr1:52976671 [GRCh38]
Chr1:53442343 [GRCh37]
Chr1:1p32.3 |
benign |
| NM_002979.5(SCP2):c.1635T>C (p.Ala545=) |
single nucleotide variant |
not provided [RCV002838639] |
Chr1:53050695 [GRCh38]
Chr1:53516367 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.397-8C>A |
single nucleotide variant |
not provided [RCV002727153] |
Chr1:52961495 [GRCh38]
Chr1:53427167 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1278T>C (p.Ser426=) |
single nucleotide variant |
not provided [RCV003013761] |
Chr1:53028011 [GRCh38]
Chr1:53493683 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1273A>G (p.Ser425Gly) |
single nucleotide variant |
not provided [RCV002776465] |
Chr1:53028006 [GRCh38]
Chr1:53493678 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.1135A>C (p.Arg379=) |
single nucleotide variant |
not provided [RCV002970885] |
Chr1:53014943 [GRCh38]
Chr1:53480615 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1468+13del |
deletion |
not provided [RCV002858601] |
Chr1:53039058 [GRCh38]
Chr1:53504730 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.673T>A (p.Cys225Ser) |
single nucleotide variant |
not provided [RCV002974907] |
Chr1:52976768 [GRCh38]
Chr1:53442440 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.40G>C (p.Val14Leu) |
single nucleotide variant |
not provided [RCV002948136]|not specified [RCV004067251] |
Chr1:52927436 [GRCh38]
Chr1:53393108 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.1082-18C>T |
single nucleotide variant |
not provided [RCV002617698] |
Chr1:53014872 [GRCh38]
Chr1:53480544 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.165A>G (p.Ser55=) |
single nucleotide variant |
not provided [RCV002858488] |
Chr1:52948046 [GRCh38]
Chr1:53413718 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.510T>C (p.His170=) |
single nucleotide variant |
not provided [RCV002861986] |
Chr1:52961616 [GRCh38]
Chr1:53427288 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.419C>G (p.Thr140Ser) |
single nucleotide variant |
not provided [RCV002616964] |
Chr1:52961525 [GRCh38]
Chr1:53427197 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.2T>C (p.Met1Thr) |
single nucleotide variant |
not provided [RCV002971097] |
Chr1:52927398 [GRCh38]
Chr1:53393070 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.397-10C>G |
single nucleotide variant |
not provided [RCV002839279] |
Chr1:52961493 [GRCh38]
Chr1:53427165 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.313dup (p.Arg105fs) |
duplication |
not provided [RCV002842466] |
Chr1:52950865..52950866 [GRCh38]
Chr1:53416537..53416538 [GRCh37]
Chr1:1p32.3 |
pathogenic |
| NM_002979.5(SCP2):c.127+8A>G |
single nucleotide variant |
SCP2-related disorder [RCV004750212]|not provided [RCV002862645] |
Chr1:52941861 [GRCh38]
Chr1:53407533 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.565C>A (p.His189Asn) |
single nucleotide variant |
not provided [RCV002842996] |
Chr1:52974810 [GRCh38]
Chr1:53440482 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.1548+10A>C |
single nucleotide variant |
not provided [RCV002816485] |
Chr1:53047947 [GRCh38]
Chr1:53513619 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1066C>T (p.Pro356Ser) |
single nucleotide variant |
not provided [RCV002755881] |
Chr1:52988121 [GRCh38]
Chr1:53453793 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.683C>G (p.Ser228Ter) |
single nucleotide variant |
not provided [RCV002796164] |
Chr1:52978225 [GRCh38]
Chr1:53443897 [GRCh37]
Chr1:1p32.3 |
pathogenic |
| NM_002979.5(SCP2):c.1468+20C>T |
single nucleotide variant |
not provided [RCV003055740] |
Chr1:53039066 [GRCh38]
Chr1:53504738 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.229_232del (p.Tyr77fs) |
microsatellite |
not provided [RCV002952712] |
Chr1:52950779..52950782 [GRCh38]
Chr1:53416451..53416454 [GRCh37]
Chr1:1p32.3 |
pathogenic |
| NM_002979.5(SCP2):c.73G>T (p.Val25Leu) |
single nucleotide variant |
not provided [RCV002591315]|not specified [RCV004857906] |
Chr1:52941799 [GRCh38]
Chr1:53407471 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.433G>C (p.Asp145His) |
single nucleotide variant |
not provided [RCV002821024] |
Chr1:52961539 [GRCh38]
Chr1:53427211 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.111C>A (p.Asp37Glu) |
single nucleotide variant |
not provided [RCV002591176] |
Chr1:52941837 [GRCh38]
Chr1:53407509 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.621T>A (p.Asp207Glu) |
single nucleotide variant |
not provided [RCV002823740] |
Chr1:52976716 [GRCh38]
Chr1:53442388 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.396+20A>C |
single nucleotide variant |
not provided [RCV002795337] |
Chr1:52954824 [GRCh38]
Chr1:53420496 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.296C>T (p.Thr99Ile) |
single nucleotide variant |
not provided [RCV002823782] |
Chr1:52950851 [GRCh38]
Chr1:53416523 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.461C>T (p.Ser154Phe) |
single nucleotide variant |
not provided [RCV002795827] |
Chr1:52961567 [GRCh38]
Chr1:53427239 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.915C>T (p.His305=) |
single nucleotide variant |
SCP2-related disorder [RCV003984269]|not provided [RCV002638870] |
Chr1:52980485 [GRCh38]
Chr1:53446157 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.675-5C>T |
single nucleotide variant |
not provided [RCV002639355] |
Chr1:52978212 [GRCh38]
Chr1:53443884 [GRCh37]
Chr1:1p32.3 |
likely benign|uncertain significance |
| NM_002979.5(SCP2):c.1319T>C (p.Ile440Thr) |
single nucleotide variant |
not provided [RCV002706620] |
Chr1:53028052 [GRCh38]
Chr1:53493724 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.633A>G (p.Ala211=) |
single nucleotide variant |
not provided [RCV002621352] |
Chr1:52976728 [GRCh38]
Chr1:53442400 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1171A>G (p.Asn391Asp) |
single nucleotide variant |
not provided [RCV002885437] |
Chr1:53014979 [GRCh38]
Chr1:53480651 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.374G>A (p.Ser125Asn) |
single nucleotide variant |
not provided [RCV002913051] |
Chr1:52954782 [GRCh38]
Chr1:53420454 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.382A>G (p.Ser128Gly) |
single nucleotide variant |
not provided [RCV003017822] |
Chr1:52954790 [GRCh38]
Chr1:53420462 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.825+16T>C |
single nucleotide variant |
not provided [RCV002847811] |
Chr1:52978383 [GRCh38]
Chr1:53444055 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1469-12dup |
duplication |
not provided [RCV002913819] |
Chr1:53047845..53047846 [GRCh38]
Chr1:53513517..53513518 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.987G>A (p.Thr329=) |
single nucleotide variant |
not provided [RCV003021113] |
Chr1:52988042 [GRCh38]
Chr1:53453714 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1404G>T (p.Gly468=) |
single nucleotide variant |
not provided [RCV003038818] |
Chr1:53038982 [GRCh38]
Chr1:53504654 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.396+16G>C |
single nucleotide variant |
not provided [RCV002885284] |
Chr1:52954820 [GRCh38]
Chr1:53420492 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1215G>A (p.Met405Ile) |
single nucleotide variant |
not provided [RCV003054622] |
Chr1:53015023 [GRCh38]
Chr1:53480695 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.1082-11C>T |
single nucleotide variant |
not provided [RCV002667438] |
Chr1:53014879 [GRCh38]
Chr1:53480551 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.62T>G (p.Met21Arg) |
single nucleotide variant |
not provided [RCV002801908]|not specified [RCV004064882] |
Chr1:52927458 [GRCh38]
Chr1:53393130 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.1619T>G (p.Leu540Arg) |
single nucleotide variant |
not provided [RCV002932200] |
Chr1:53050679 [GRCh38]
Chr1:53516351 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.587+10T>C |
single nucleotide variant |
not provided [RCV003040525] |
Chr1:52974842 [GRCh38]
Chr1:53440514 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1061G>C (p.Gly354Ala) |
single nucleotide variant |
not provided [RCV002745904]|not specified [RCV004661461] |
Chr1:52988116 [GRCh38]
Chr1:53453788 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.378G>A (p.Lys126=) |
single nucleotide variant |
not provided [RCV002667740] |
Chr1:52954786 [GRCh38]
Chr1:53420458 [GRCh37]
Chr1:1p32.3 |
likely benign|uncertain significance |
| NM_002979.5(SCP2):c.127+2T>C |
single nucleotide variant |
not provided [RCV003083849] |
Chr1:52941855 [GRCh38]
Chr1:53407527 [GRCh37]
Chr1:1p32.3 |
likely pathogenic |
| NM_002979.5(SCP2):c.866A>G (p.Tyr289Cys) |
single nucleotide variant |
not provided [RCV002595405] |
Chr1:52980436 [GRCh38]
Chr1:53446108 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.417del (p.Thr140fs) |
deletion |
not provided [RCV002890167] |
Chr1:52961521 [GRCh38]
Chr1:53427193 [GRCh37]
Chr1:1p32.3 |
pathogenic |
| NM_002979.5(SCP2):c.399T>G (p.Phe133Leu) |
single nucleotide variant |
not specified [RCV004210591] |
Chr1:52961505 [GRCh38]
Chr1:53427177 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.1550C>A (p.Ala517Asp) |
single nucleotide variant |
not provided [RCV003003355] |
Chr1:53050610 [GRCh38]
Chr1:53516282 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.328G>T (p.Gly110Cys) |
single nucleotide variant |
not provided [RCV003023793] |
Chr1:52950883 [GRCh38]
Chr1:53416555 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.974-20T>C |
single nucleotide variant |
not provided [RCV002851084] |
Chr1:52988009 [GRCh38]
Chr1:53453681 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.945T>G (p.Thr315=) |
single nucleotide variant |
not provided [RCV002626883] |
Chr1:52980515 [GRCh38]
Chr1:53446187 [GRCh37]
Chr1:1p32.3 |
likely benign|uncertain significance |
| NM_002979.5(SCP2):c.128-9T>C |
single nucleotide variant |
not provided [RCV002791121] |
Chr1:52948000 [GRCh38]
Chr1:53413672 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.944C>G (p.Thr315Ser) |
single nucleotide variant |
not provided [RCV002642609] |
Chr1:52980514 [GRCh38]
Chr1:53446186 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.1236-4C>T |
single nucleotide variant |
not provided [RCV002872436] |
Chr1:53027965 [GRCh38]
Chr1:53493637 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1243A>G (p.Arg415Gly) |
single nucleotide variant |
not provided [RCV002710111] |
Chr1:53027976 [GRCh38]
Chr1:53493648 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.921C>T (p.Cys307=) |
single nucleotide variant |
not provided [RCV002595898] |
Chr1:52980491 [GRCh38]
Chr1:53446163 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.798G>A (p.Ser266=) |
single nucleotide variant |
SCP2-related disorder [RCV004749918]|not provided [RCV002593538] |
Chr1:52978340 [GRCh38]
Chr1:53444012 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1548+6T>C |
single nucleotide variant |
not provided [RCV003029889] |
Chr1:53047943 [GRCh38]
Chr1:53513615 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.334G>A (p.Val112Met) |
single nucleotide variant |
not provided [RCV003061964] |
Chr1:52954742 [GRCh38]
Chr1:53420414 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.6C>G (p.Ser2=) |
single nucleotide variant |
not provided [RCV002810874] |
Chr1:52927402 [GRCh38]
Chr1:53393074 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.725T>C (p.Val242Ala) |
single nucleotide variant |
not specified [RCV004118103] |
Chr1:52978267 [GRCh38]
Chr1:53443939 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.41T>C (p.Val14Ala) |
single nucleotide variant |
not provided [RCV002577273] |
Chr1:52927437 [GRCh38]
Chr1:53393109 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.1081+15A>T |
single nucleotide variant |
not provided [RCV002670904] |
Chr1:52988151 [GRCh38]
Chr1:53453823 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.13C>A (p.Pro5Thr) |
single nucleotide variant |
not provided [RCV003028469] |
Chr1:52927409 [GRCh38]
Chr1:53393081 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.588dup |
duplication |
Sterol carrier protein 2 deficiency [RCV003387544]|not provided [RCV002578646] |
Chr1:52976681..52976682 [GRCh38]
Chr1:53442353..53442354 [GRCh37]
Chr1:1p32.3 |
pathogenic|likely pathogenic |
| NM_002979.5(SCP2):c.675-1G>C |
single nucleotide variant |
not provided [RCV002714814] |
Chr1:52978216 [GRCh38]
Chr1:53443888 [GRCh37]
Chr1:1p32.3 |
likely pathogenic |
| NM_002979.5(SCP2):c.14C>T (p.Pro5Leu) |
single nucleotide variant |
not provided [RCV002810663] |
Chr1:52927410 [GRCh38]
Chr1:53393082 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.675-13T>C |
single nucleotide variant |
not provided [RCV002676200] |
Chr1:52978204 [GRCh38]
Chr1:53443876 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1171A>T (p.Asn391Tyr) |
single nucleotide variant |
not provided [RCV003026821] |
Chr1:53014979 [GRCh38]
Chr1:53480651 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.1001G>C (p.Gly334Ala) |
single nucleotide variant |
not provided [RCV003045911] |
Chr1:52988056 [GRCh38]
Chr1:53453728 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.69+16G>A |
single nucleotide variant |
not provided [RCV002877157] |
Chr1:52927481 [GRCh38]
Chr1:53393153 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1216G>A (p.Gly406Ser) |
single nucleotide variant |
not provided [RCV002715621] |
Chr1:53015024 [GRCh38]
Chr1:53480696 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.1349A>G (p.Gln450Arg) |
single nucleotide variant |
not provided [RCV002577118] |
Chr1:53038927 [GRCh38]
Chr1:53504599 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.410C>T (p.Thr137Ile) |
single nucleotide variant |
not provided [RCV002579127] |
Chr1:52961516 [GRCh38]
Chr1:53427188 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.1469-17C>G |
single nucleotide variant |
not provided [RCV003026626] |
Chr1:53047841 [GRCh38]
Chr1:53513513 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.826-12T>C |
single nucleotide variant |
not provided [RCV002649627] |
Chr1:52980384 [GRCh38]
Chr1:53446056 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1170dup (p.Asn391Ter) |
duplication |
not provided [RCV002900506] |
Chr1:53014977..53014978 [GRCh38]
Chr1:53480649..53480650 [GRCh37]
Chr1:1p32.3 |
pathogenic |
| NM_002979.5(SCP2):c.1499C>T (p.Ala500Val) |
single nucleotide variant |
not provided [RCV003030018] |
Chr1:53047888 [GRCh38]
Chr1:53513560 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.880_881delinsGG (p.Leu294Gly) |
indel |
not provided [RCV002650449] |
Chr1:52980450..52980451 [GRCh38]
Chr1:53446122..53446123 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.69+13G>A |
single nucleotide variant |
not provided [RCV002937788] |
Chr1:52927478 [GRCh38]
Chr1:53393150 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.331+13del |
deletion |
not provided [RCV002717152] |
Chr1:52950898 [GRCh38]
Chr1:53416570 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1634C>A (p.Ala545Asp) |
single nucleotide variant |
not provided [RCV002810241]|not specified [RCV004064890] |
Chr1:53050694 [GRCh38]
Chr1:53516366 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.454G>A (p.Gly152Arg) |
single nucleotide variant |
not provided [RCV002599172] |
Chr1:52961560 [GRCh38]
Chr1:53427232 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.661A>G (p.Ile221Val) |
single nucleotide variant |
not provided [RCV002720444] |
Chr1:52976756 [GRCh38]
Chr1:53442428 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.590A>G (p.Tyr197Cys) |
single nucleotide variant |
not provided [RCV003009541] |
Chr1:52976685 [GRCh38]
Chr1:53442357 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.948T>C (p.Tyr316=) |
single nucleotide variant |
not provided [RCV003043860] |
Chr1:52980518 [GRCh38]
Chr1:53446190 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1611T>C (p.Asn537=) |
single nucleotide variant |
not provided [RCV003049818] |
Chr1:53050671 [GRCh38]
Chr1:53516343 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1332T>C (p.Leu444=) |
single nucleotide variant |
not provided [RCV002680876] |
Chr1:53028065 [GRCh38]
Chr1:53493737 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1495A>G (p.Met499Val) |
single nucleotide variant |
not provided [RCV002814959] |
Chr1:53047884 [GRCh38]
Chr1:53513556 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.250G>A (p.Gly84Arg) |
single nucleotide variant |
not provided [RCV002814387] |
Chr1:52950805 [GRCh38]
Chr1:53416477 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.678C>T (p.Pro226=) |
single nucleotide variant |
not provided [RCV002943221] |
Chr1:52978220 [GRCh38]
Chr1:53443892 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1366G>A (p.Gly456Ser) |
single nucleotide variant |
not provided [RCV002587151] |
Chr1:53038944 [GRCh38]
Chr1:53504616 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.1083T>A (p.Gly361=) |
single nucleotide variant |
not provided [RCV002587359] |
Chr1:53014891 [GRCh38]
Chr1:53480563 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1375T>A (p.Phe459Ile) |
single nucleotide variant |
not provided [RCV003070723] |
Chr1:53038953 [GRCh38]
Chr1:53504625 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.452A>G (p.Tyr151Cys) |
single nucleotide variant |
not provided [RCV002589877] |
Chr1:52961558 [GRCh38]
Chr1:53427230 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.1181T>C (p.Ile394Thr) |
single nucleotide variant |
not specified [RCV004256378] |
Chr1:53014989 [GRCh38]
Chr1:53480661 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.22C>G (p.Pro8Ala) |
single nucleotide variant |
not specified [RCV004346059] |
Chr1:52927418 [GRCh38]
Chr1:53393090 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.535G>T (p.Glu179Ter) |
single nucleotide variant |
not provided [RCV003542942] |
Chr1:52974780 [GRCh38]
Chr1:53440452 [GRCh37]
Chr1:1p32.3 |
pathogenic |
| NM_002979.5(SCP2):c.706T>C (p.Leu236=) |
single nucleotide variant |
not provided [RCV003571714] |
Chr1:52978248 [GRCh38]
Chr1:53443920 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1235+12T>C |
single nucleotide variant |
not provided [RCV003568954] |
Chr1:53015055 [GRCh38]
Chr1:53480727 [GRCh37]
Chr1:1p32.3 |
likely benign |
| GRCh37/hg19 1p32.3(chr1:53225500-53499298)x3 |
copy number gain |
not provided [RCV003484017] |
Chr1:53225500..53499298 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| Single allele |
inversion |
Bilateral polymicrogyria [RCV003459046] |
Chr1:33246132..61045156 [GRCh38]
Chr1:1p35.1-31.3 |
likely pathogenic |
| NM_002979.5(SCP2):c.1434G>A (p.Val478=) |
single nucleotide variant |
not provided [RCV003579360] |
Chr1:53039012 [GRCh38]
Chr1:53504684 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.974-1G>C |
single nucleotide variant |
not provided [RCV003690090] |
Chr1:52988028 [GRCh38]
Chr1:53453700 [GRCh37]
Chr1:1p32.3 |
likely pathogenic |
| NM_002979.5(SCP2):c.879C>A (p.Gly293=) |
single nucleotide variant |
not provided [RCV003576619] |
Chr1:52980449 [GRCh38]
Chr1:53446121 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.417C>T (p.Pro139=) |
single nucleotide variant |
not provided [RCV003687137] |
Chr1:52961523 [GRCh38]
Chr1:53427195 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.438C>T (p.Leu146=) |
single nucleotide variant |
not provided [RCV003716653] |
Chr1:52961544 [GRCh38]
Chr1:53427216 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.825+18T>A |
single nucleotide variant |
not provided [RCV003830554] |
Chr1:52978385 [GRCh38]
Chr1:53444057 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1606del (p.Gln536fs) |
deletion |
not provided [RCV003695984] |
Chr1:53050666 [GRCh38]
Chr1:53516338 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.587+17C>T |
single nucleotide variant |
not provided [RCV003695995] |
Chr1:52974849 [GRCh38]
Chr1:53440521 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1287T>C (p.Asp429=) |
single nucleotide variant |
not provided [RCV003695032] |
Chr1:53028020 [GRCh38]
Chr1:53493692 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1235+14A>G |
single nucleotide variant |
not provided [RCV003660038] |
Chr1:53015057 [GRCh38]
Chr1:53480729 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1468+18T>C |
single nucleotide variant |
not provided [RCV005062651] |
Chr1:53039064 [GRCh38]
Chr1:53504736 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.321G>A (p.Leu107=) |
single nucleotide variant |
not provided [RCV003850910] |
Chr1:52950876 [GRCh38]
Chr1:53416548 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.199+17G>A |
single nucleotide variant |
not provided [RCV003659484] |
Chr1:52948097 [GRCh38]
Chr1:53413769 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.128-15C>G |
single nucleotide variant |
not provided [RCV003832624] |
Chr1:52947994 [GRCh38]
Chr1:53413666 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1236-20A>T |
single nucleotide variant |
not provided [RCV003840483] |
Chr1:53027949 [GRCh38]
Chr1:53493621 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.960A>G (p.Gly320=) |
single nucleotide variant |
not provided [RCV003697479] |
Chr1:52980530 [GRCh38]
Chr1:53446202 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.825+17A>G |
single nucleotide variant |
not provided [RCV003665713] |
Chr1:52978384 [GRCh38]
Chr1:53444056 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.332-12T>C |
single nucleotide variant |
not provided [RCV003703650] |
Chr1:52954728 [GRCh38]
Chr1:53420400 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.524-16T>A |
single nucleotide variant |
not provided [RCV003561933] |
Chr1:52974753 [GRCh38]
Chr1:53440425 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.825+1G>A |
single nucleotide variant |
not provided [RCV003703536] |
Chr1:52978368 [GRCh38]
Chr1:53444040 [GRCh37]
Chr1:1p32.3 |
likely pathogenic |
| NM_002979.5(SCP2):c.1339-20del |
deletion |
not provided [RCV003580178] |
Chr1:53038897 [GRCh38]
Chr1:53504569 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.238T>C (p.Leu80=) |
single nucleotide variant |
not provided [RCV003838285] |
Chr1:52950793 [GRCh38]
Chr1:53416465 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1236-1G>T |
single nucleotide variant |
not provided [RCV003666000] |
Chr1:53027968 [GRCh38]
Chr1:53493640 [GRCh37]
Chr1:1p32.3 |
likely pathogenic |
| NM_002979.5(SCP2):c.1296G>A (p.Lys432=) |
single nucleotide variant |
not provided [RCV003672811] |
Chr1:53028029 [GRCh38]
Chr1:53493701 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.549A>G (p.Lys183=) |
single nucleotide variant |
not provided [RCV003835428] |
Chr1:52974794 [GRCh38]
Chr1:53440466 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.628A>G (p.Met210Val) |
single nucleotide variant |
not provided [RCV003671713] |
Chr1:52976723 [GRCh38]
Chr1:53442395 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.331+19G>C |
single nucleotide variant |
not provided [RCV003667505] |
Chr1:52950905 [GRCh38]
Chr1:53416577 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1549-9T>C |
single nucleotide variant |
SCP2-related disorder [RCV003901218]|not provided [RCV003663691] |
Chr1:53050600 [GRCh38]
Chr1:53516272 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.199+14TG[3] |
microsatellite |
not provided [RCV003823457] |
Chr1:52948093..52948094 [GRCh38]
Chr1:53413765..53413766 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1235+7G>A |
single nucleotide variant |
not provided [RCV003865006] |
Chr1:53015050 [GRCh38]
Chr1:53480722 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.837T>C (p.Asp279=) |
single nucleotide variant |
not provided [RCV003567851] |
Chr1:52980407 [GRCh38]
Chr1:53446079 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.69+12A>T |
single nucleotide variant |
not provided [RCV003706300] |
Chr1:52927477 [GRCh38]
Chr1:53393149 [GRCh37]
Chr1:1p32.3 |
likely benign |
| GRCh37/hg19 1p33-32.2(chr1:47493178-57042671)x3 |
copy number gain |
not specified [RCV003986484] |
Chr1:47493178..57042671 [GRCh37]
Chr1:1p33-32.2 |
likely pathogenic |
| NM_002979.5(SCP2):c.768A>G (p.Ala256=) |
single nucleotide variant |
not provided [RCV003705635] |
Chr1:52978310 [GRCh38]
Chr1:53443982 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.199+10A>G |
single nucleotide variant |
not provided [RCV003865307] |
Chr1:52948090 [GRCh38]
Chr1:53413762 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.397-5C>T |
single nucleotide variant |
not provided [RCV003853102] |
Chr1:52961498 [GRCh38]
Chr1:53427170 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1069C>T (p.Leu357=) |
single nucleotide variant |
not provided [RCV003723175] |
Chr1:52988124 [GRCh38]
Chr1:53453796 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.396+18A>G |
single nucleotide variant |
not provided [RCV003870079] |
Chr1:52954822 [GRCh38]
Chr1:53420494 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.151C>T (p.Gln51Ter) |
single nucleotide variant |
not provided [RCV003567767] |
Chr1:52948032 [GRCh38]
Chr1:53413704 [GRCh37]
Chr1:1p32.3 |
pathogenic |
| NM_002979.5(SCP2):c.332-7C>T |
single nucleotide variant |
not provided [RCV003823696] |
Chr1:52954733 [GRCh38]
Chr1:53420405 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.885A>C (p.Thr295=) |
single nucleotide variant |
not provided [RCV003730728] |
Chr1:52980455 [GRCh38]
Chr1:53446127 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.674+15T>C |
single nucleotide variant |
not provided [RCV003845656] |
Chr1:52976784 [GRCh38]
Chr1:53442456 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1254A>G (p.Gln418=) |
single nucleotide variant |
not provided [RCV003680408] |
Chr1:53027987 [GRCh38]
Chr1:53493659 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.67A>C (p.Lys23Gln) |
single nucleotide variant |
SCP2-related disorder [RCV003904679]|not provided [RCV004790638] |
Chr1:52927463 [GRCh38]
Chr1:53393135 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.527C>T (p.Thr176Ile) |
single nucleotide variant |
not specified [RCV004455007] |
Chr1:52974772 [GRCh38]
Chr1:53440444 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.694G>A (p.Ala232Thr) |
single nucleotide variant |
not specified [RCV004455008] |
Chr1:52978236 [GRCh38]
Chr1:53443908 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NC_000001.10:g.(?_53420392)_(53420496_?)del |
deletion |
not provided [RCV004579110] |
Chr1:53420392..53420496 [GRCh37]
Chr1:1p32.3 |
pathogenic |
| NC_000001.10:g.(?_53427155)_(53427321_?)dup |
duplication |
not provided [RCV004579111] |
Chr1:53427155..53427321 [GRCh37]
Chr1:1p32.3 |
likely pathogenic |
| NM_002979.5(SCP2):c.209C>T (p.Thr70Ile) |
single nucleotide variant |
not specified [RCV004658838] |
Chr1:52950764 [GRCh38]
Chr1:53416436 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.1550C>G (p.Ala517Gly) |
single nucleotide variant |
not specified [RCV004658839] |
Chr1:53050610 [GRCh38]
Chr1:53516282 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.365A>G (p.Glu122Gly) |
single nucleotide variant |
not provided [RCV004792981] |
Chr1:52954773 [GRCh38]
Chr1:53420445 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.324T>A (p.Ile108=) |
single nucleotide variant |
SCP2-related disorder [RCV004750693] |
Chr1:52950879 [GRCh38]
Chr1:53416551 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.146A>G (p.Asp49Gly) |
single nucleotide variant |
SCP2-related disorder [RCV004730793] |
Chr1:52948027 [GRCh38]
Chr1:53413699 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.973+1G>A |
single nucleotide variant |
Sterol carrier protein 2 deficiency [RCV004764528] |
Chr1:52980544 [GRCh38]
Chr1:53446216 [GRCh37]
Chr1:1p32.3 |
likely pathogenic |
| NM_002979.5(SCP2):c.812G>A (p.Ser271Asn) |
single nucleotide variant |
not specified [RCV004859018] |
Chr1:52978354 [GRCh38]
Chr1:53444026 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.1636A>G (p.Lys546Glu) |
single nucleotide variant |
not specified [RCV004859019] |
Chr1:53050696 [GRCh38]
Chr1:53516368 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.668A>C (p.Gln223Pro) |
single nucleotide variant |
not specified [RCV004859020] |
Chr1:52976763 [GRCh38]
Chr1:53442435 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| GRCh37/hg19 1p32.3(chr1:52681421-54333374)x3 |
copy number gain |
not provided [RCV004819422] |
Chr1:52681421..54333374 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| GRCh37/hg19 1p34.1-22.2(chr1:44475302-89585894)x3 |
copy number gain |
not provided [RCV004819297] |
Chr1:44475302..89585894 [GRCh37]
Chr1:1p34.1-22.2 |
pathogenic |
| NM_002979.5(SCP2):c.199+11A>G |
single nucleotide variant |
not provided [RCV005147784] |
Chr1:52948091 [GRCh38]
Chr1:53413763 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.199+1G>A |
single nucleotide variant |
not provided [RCV005146030] |
Chr1:52948081 [GRCh38]
Chr1:53413753 [GRCh37]
Chr1:1p32.3 |
likely pathogenic |
| NM_002979.5(SCP2):c.1235+8A>G |
single nucleotide variant |
not provided [RCV005119137] |
Chr1:53015051 [GRCh38]
Chr1:53480723 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1365C>T (p.Ile455=) |
single nucleotide variant |
not provided [RCV005190007] |
Chr1:53038943 [GRCh38]
Chr1:53504615 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.128-5T>C |
single nucleotide variant |
not provided [RCV005117767] |
Chr1:52948004 [GRCh38]
Chr1:53413676 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1428G>A (p.Val476=) |
single nucleotide variant |
not provided [RCV005137376] |
Chr1:53039006 [GRCh38]
Chr1:53504678 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1184G>A (p.Gly395Glu) |
single nucleotide variant |
not provided [RCV005108364] |
Chr1:53014992 [GRCh38]
Chr1:53480664 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.717A>G (p.Glu239=) |
single nucleotide variant |
not provided [RCV005180525] |
Chr1:52978259 [GRCh38]
Chr1:53443931 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.672T>C (p.Cys224=) |
single nucleotide variant |
not provided [RCV005186370] |
Chr1:52976767 [GRCh38]
Chr1:53442439 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.973+4A>G |
single nucleotide variant |
not provided [RCV005182867] |
Chr1:52980547 [GRCh38]
Chr1:53446219 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.524-2A>G |
single nucleotide variant |
not provided [RCV005108744] |
Chr1:52974767 [GRCh38]
Chr1:53440439 [GRCh37]
Chr1:1p32.3 |
likely pathogenic |
| NM_002979.5(SCP2):c.973+5C>T |
single nucleotide variant |
not provided [RCV005126992] |
Chr1:52980548 [GRCh38]
Chr1:53446220 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.397-10C>T |
single nucleotide variant |
not provided [RCV005075671] |
Chr1:52961493 [GRCh38]
Chr1:53427165 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.127+20T>A |
single nucleotide variant |
not provided [RCV005204615] |
Chr1:52941873 [GRCh38]
Chr1:53407545 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.199+17_199+18del |
microsatellite |
not provided [RCV005081611] |
Chr1:52948094..52948095 [GRCh38]
Chr1:53413766..53413767 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1549-8C>A |
single nucleotide variant |
not provided [RCV005168372] |
Chr1:53050601 [GRCh38]
Chr1:53516273 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.627G>A (p.Val209=) |
single nucleotide variant |
not provided [RCV005131759] |
Chr1:52976722 [GRCh38]
Chr1:53442394 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.918T>C (p.Asp306=) |
single nucleotide variant |
not provided [RCV005121277] |
Chr1:52980488 [GRCh38]
Chr1:53446160 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.397-9C>T |
single nucleotide variant |
not provided [RCV005075093] |
Chr1:52961494 [GRCh38]
Chr1:53427166 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.825+14T>A |
single nucleotide variant |
not provided [RCV005201186] |
Chr1:52978381 [GRCh38]
Chr1:53444053 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.128-13T>G |
single nucleotide variant |
not provided [RCV005117615] |
Chr1:52947996 [GRCh38]
Chr1:53413668 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.774A>G (p.Glu258=) |
single nucleotide variant |
not provided [RCV005159433] |
Chr1:52978316 [GRCh38]
Chr1:53443988 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.207T>C (p.Ser69=) |
single nucleotide variant |
not provided [RCV005139010] |
Chr1:52950762 [GRCh38]
Chr1:53416434 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.678C>G (p.Pro226=) |
single nucleotide variant |
not provided [RCV005121990] |
Chr1:52978220 [GRCh38]
Chr1:53443892 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.739dup (p.Leu247fs) |
duplication |
not provided [RCV005139832] |
Chr1:52978279..52978280 [GRCh38]
Chr1:53443951..53443952 [GRCh37]
Chr1:1p32.3 |
pathogenic |
| NM_002979.5(SCP2):c.1547C>T (p.Ser516Leu) |
single nucleotide variant |
not provided [RCV005076986] |
Chr1:53047936 [GRCh38]
Chr1:53513608 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.674+15_674+20del |
deletion |
not provided [RCV005131591] |
Chr1:52976783..52976788 [GRCh38]
Chr1:53442455..53442460 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.974-9C>T |
single nucleotide variant |
not provided [RCV005156060] |
Chr1:52988020 [GRCh38]
Chr1:53453692 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.675-8C>T |
single nucleotide variant |
not provided [RCV005176805] |
Chr1:52978209 [GRCh38]
Chr1:53443881 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.396+11T>C |
single nucleotide variant |
not provided [RCV005111228] |
Chr1:52954815 [GRCh38]
Chr1:53420487 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.200-4T>C |
single nucleotide variant |
not provided [RCV005204895] |
Chr1:52950751 [GRCh38]
Chr1:53416423 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.1469-18C>T |
single nucleotide variant |
not provided [RCV005183117] |
Chr1:53047840 [GRCh38]
Chr1:53513512 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.872A>G (p.Lys291Arg) |
single nucleotide variant |
not provided [RCV005072979] |
Chr1:52980442 [GRCh38]
Chr1:53446114 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.394A>G (p.Lys132Glu) |
single nucleotide variant |
not specified [RCV004455006] |
Chr1:52954802 [GRCh38]
Chr1:53420474 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
| NM_002979.5(SCP2):c.200-15T>G |
single nucleotide variant |
not provided [RCV003042402] |
Chr1:52950740 [GRCh38]
Chr1:53416412 [GRCh37]
Chr1:1p32.3 |
likely benign |
| NM_002979.5(SCP2):c.973+816C>T |
single nucleotide variant |
not provided [RCV003387689] |
Chr1:52981359 [GRCh38]
Chr1:53447031 [GRCh37]
Chr1:1p32.3 |
uncertain significance |
