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Items: 1 to 100 of 357

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr19:11338618-45129651
GRCh38:
Chr19:11227942-44626354
ANKLE1, IGSF23, LYPD4, HIPK4, ZNF563, ZNF420, ZNF565, FAM98C, CAPN12, DPY19L3, LGALS16, TTC9B, ZNF599, FAM187B, CILP2, PROSER3, LINC00906, LINC00662, ZNF98, ZNF738, ZNF714, ZNF681, LINC00905, ZNF569, ZNF570, DEDD2, ZNF791, ZNF564, ZNF709, ZNF433, ZNF567, ZNF383, ZNF781, EID2, ZNF780B, LGI4, SYNE4, ZNF676, ZNF100, ZNF540, SSBP4, ZNF431, ZNF675, ZNF627, DAND5, ZNF585A, GGN, CADM4, THAP8, U2AF1L4, ZNF626, NIBAN3, SYCE2, IFNL2, IFNL3, IFNL1, ZNF780A, C19orf54, PRR19, TMEM145, CXCL17, LOC284344, ZNF575, LYPD5, ZNF283, ZNF763, ZNF844, LOC284395, SCGB2B2, WDR62, ZFP82, ZNF790-AS1, LOC284412, OR10H5, NWD1, SLC25A42, LINC00663, ZNF493, LOC284454, ZNF875, ZNF181, ZNF260, ZNF546, VSTM2B, ZNF850, NCCRP1, SYCN, LEUTX, ZNF404, ZNF284, NANOS3, PALM3, SELENOV, ZNF429, ZNF233, TMEM205, YJEFN3, LINC01785, SBSN, ZNF829, ZNF568, B3GNT8, SLC27A1, ZNF788P, CLEC17A, ZNF728, RPSAP58, RGS9BP, KRTDAP, ZNF790, OR7A10, NUDT19, ZNF793, ACP7, ERFL, PINLYP, SPRED3, LINC00664, LOC400684, LINC01801, HAPLN4, MIR181C, MIR23A, MIR24-2, MIR27A, ZNF506, ZNF724, PSG8, MIR181D, TMEM91, CCER2, LINC01529, SDHAF1, LOC644554, C19orf67, ZNF723, LOC648044, UCA1, LGALS7B, PHLDB3, MIR639, MIR640, MIR641, OVOL3, LOC728485, LOC728752, ZNF878, LOC729966, BORCS8, ZNF726, LINC01233, HPN-AS1, LINC01531, ZNF730, ZNF737, TMEM221, LOC100134317, SRRM5, ERICH4, TRT-AGT1-3, TRI-TAT1-1, MEF2B, ZNF729, LOC100289333, PSG8-AS1, MIR1470, MIR1270, LOC100379224, MIR3188, MIR3189, MIR4323, PCAT19, LOC100505585, LOC100505622, LOC100505715, LINC01532, LOC100505851, TMEM147-AS1, LINC00665, LOC100507373, ZNF571-AS1, THEG5, LOC100507551, LOC100507646, MIA-RAB4B, RAB4B-EGLN2, ZNF625-ZNF20, MIR4530, LOC100631378, LINC00904, LINC01838, MIR5695, MIR5196, MIR5684, UPK1A-AS1, LIPE-AS1, LINC01533, IFNL4, LOC101927151, LINC01782, LOC101927572, ZNF529-AS1, LINC01534, LINC01535, ZNF793-AS1, LINC01480, LOC101928063, ZNF433-AS1, LINC01842, LOC101929124, LINC01858, LINC01859, LOC101930071, MIR6795, MIR6796, MIR6797, MIR7974, MIR8077, MIR6719, MIR6794, MIR6887, MIR1199, MIR6515, ZNF30-AS1, LINC01766, CLEC4O, HOMER3-AS1, LOC102724908, LOC102724958, LOC102725254, LINC01224, BISPR, GNG14, LINC01841, LINC01764, LINC01855, ERVS71-1, LINC02841, LOC105372383, LOC105372397, ERVK-19, LOC105376917, FARSA-AS1, SNORD135, SNORA104, LOC106783503, LINC01834, LINC01791, LOC108663985, SNORA68B, SNORD175, SNORD152, SNORA118, LOC110120869, LOC110120870, LOC110120871, LOC110120872, LOC110120873, LOC110120875, LOC110120890, LOC110120927, LOC110120942, LOC110121458, LOC110121465, LOC110599575, LOC110599577, LOC110673974, CCDC194, LOC111365151, LOC111365153, LOC111365163, LOC111413028, LOC111501767, LOC111811970, LOC112543445, LOC112543446, LOC112543448, LOC112543452, LOC112543454, LOC112543455, LOC112543458, LOC112543459, LOC112543461, LOC112543462, LOC112543463, LOC112543464, LOC112543465, LOC112543466, LOC112543467, LOC112543468, LOC112543469, LOC112543470, LOC112543471, LOC112543472, LOC112543473, LOC112543479, LOC112543483, LOC112543484, LOC112543485, LOC112543486, LOC112543487, LOC112543488, LOC112543489, LOC112552149, LOC112552150, LOC112552151, LOC112552152, LOC112552153, LOC112552154, LOC112552155, LOC112552156, LOC113939968, LOC113939969, LOC113939973, LOC116276503, LOC116276504, LOC116276505, LOC116276506, LOC116276507, LOC116276508, LOC116276509, LOC116276510, LOC116276511, LOC116276512, LOC116276513, LOC116276514, LOC116276515, LOC116286188, LOC116286189, ACP5, ACTN4, AKT2, APLP1, GET3, ATP1A3, ATP4A, AXL, BCKDHA, CEACAM1, BLVRB, BST2, CACNA1A, CALR, CAPNS1, CCNE1, CD22, CD79A, ADGRE5, CEACAM5, CEBPA, CEBPG, CEACAM3, CEACAM7, CEACAM8, CEACAM4, TBCB, CLC, CNN1, COMP, COX6B1, COX7A1, NCAN, CYP2A6, CYP2A7, CYP2A13, CYP2B6, CYP2F1, DHPS, DNASE2, ECH1, MEGF8, ELAVL3, EPOR, NR2F6, ERF, FBL, ETV2, FARSA, GCDH, GDF1, GPI, FFAR1, FFAR3, GPR42, FFAR2, GRIK5, GSK3A, HNRNPL, HPN, DNAJB1, IL12RB1, INSL3, JAK3, JUNB, JUND, KCNN1, KCNN4, LGALS4, LGALS7, LIPE, LRP3, CYP4F3, LYL1, MAG, MAN2B1, BORCS8-MEF2B, RAB8A, MAP3K10, MYO9B, CEACAM6, NDUFB7, NFIX, NFKBIB, NOTCH3, NPHS1, PAFAH1B3, PDE4C, PEPD, PIK3R2, PLAUR, FXYD1, FXYD3, POLR2I, POU2F2, PRKACA, PKN1, PRKCSH, PSG1, PSG2, PSG3, PSG4, PSG5, PSG6, PSG7, PSG9, PSG11, PSMC4, PSMD8, PTGER1, RAB3A, RAD23A, UPF1, RFX1, RPL18A, MRPS12, RPS16, RPS19, RYR1, SCN1B, SLC1A6, SLC5A5, SNRPA, SUPT5H, PRDX2, TGFB1, TPM4, TYROBP, UBA52, UQCRFS1, USF2, XRCC1, ZFP36, ZNF14, ZNF708, ZNF20, ZNF43, ZNF45, ZNF56, ZNF66, ZNF69, ZNF221, ZNF85, ZNF90, ZNF91, ZNF99, ZNF222, ZNF136, ZNF146, ZNF155, ZNF180, ZNF208, ZNF223, ZNF224, ZNF225, ZNF226, ZNF227, ZNF112, ZNF229, ZNF230, ELL, MIA, DPF1, LTBP4, CYP4F2, RFXANK, STX10, URI1, FCGBP, AP1M1, F2RL3, ARHGEF1, PDCD5, DYRK1B, LPAR2, CRLF1, NUMBL, ZNF235, KCNK6, MED26, HOMER3, IL27RA, GDF15, TECR, ZNF254, GMFG, RAB3D, IER2, KIAA0355, ZNF536, KMT2B, UBA2, SUGP2, DDX39A, ZNF443, AKAP8, PAK4, B3GNT3, KLF2, TMEM147, IFI30, CHERP, RNASEH2A, RABAC1, SPINT2, KLF1, DLL3, CERS1, GIPC1, POP4, ZNF234, HCST, ILVBL, UPK1A, HNRNPUL1, SLC7A9, MAP4K1, CYP4F8, COPE, ZFP30, ZNF507, ADGRL1, SIRT2, MAST1, UNC13A, MAST3, SIPA1L3, FCHO1, CIC, SIN3B, HAUS5, CRTC1, MAU2, ETHE1, BRD4, PRG1, CASP14, PLD3, FKBP8, TMEM59L, PGLS, LSM4, ZNF345, CLIP3, FAM32A, LSM14A, GAPDHS, OR7A17, TSPAN16, OR10H3, OR10H2, OR10H1, OR7C2, OR7A5, OR7C1, SNORA68, SNORD41, ZNF285, AKAP8L, ZBTB32, LYPD3, ARRDC2, CPAMD8, EIF3K, C19orf53, BABAM1, LGALS13, CYP2S1, HOOK2, SERTAD3, SERTAD1, TNPO2, ADGRE2, NDUFA13, ZNF571, GMIP, ECSIT, WDR83OS, ISYNA1, LSR, ZNF44, TM6SF2, FXYD7, FXYD5, RAB4B, DDX49, PAF1, GATAD2A, BEST2, PGPEP1, CC2D1A, TMEM161A, SARS2, REX1BD, GPATCH1, SAMD4B, DMAC2, MAP1S, KLHL26, ZNF823, MED29, TRMT1, ASF1B, USE1, PSENEN, ZNF302, ANGPTL8, LIN37, SMG9, ZNF253, IRGC, SLC7A10, LGALS14, EXOSC5, CD177, ATP13A1, RGL3, ZNF490, DOCK6, ZNF492, TSHZ3, LRFN1, GRAMD1A, ZFP14, ZNF529, PRX, ANO8, SPTBN4, SUGP1, HAMP, CATSPERG, CYP4F11, PRODH2, EPS15L1, WIZ, DMRTC2, C19orf33, CHST8, PLPPR2, ZNF574, PLEKHG2, RASAL3, MRPL34, ZSWIM4, CYP4F12, TRIR, DDA1, KXD1, TMEM38A, KCTD15, SMIM7, PLEKHF1, RBM42, C19orf57, ZNF576, LRFN3, ABHD8, OCEL1, COLGALT1, IGFLR1, EPHX3, PODNL1, COQ8B, CNTD2, SLC35E1, ZNF442, CEBPA-DT, ZNF430, ITPKC, PBX4, IQCN, B9D2, CCDC130, ZNF93, PLVAP, RTBDN, C19orf12, TEX101, USHBP1, WDR87, TSSK6, KIRREL2, ANKRD27, C19orf44, MRI1, FBXW9, WDR83, PDCD2L, ELOF1, ZNF333, ZNF527, CNFN, ADGRE3, GTPBP3, MPV17L2, ZNF607, NFKBID, CEP89, ZNF382, ZNF566, HSH2D, ALKBH6, SYDE1, RHPN2, ZNF30, CEACAM21, CCDC97, SAMD1, DCAF15, GADD45GIP1, YIF1B, ZNF799, ZNF625, ZNF700, ZNF439, ZNF486, ZNF682, FAAP24, TDRD12, ZNF461, ZNF585B, TIMM50, SHKBP1, DMKN, HAUS8, MVB12A, ARMC6, ZNF101, PPP1R14A, EGLN2, NACC1, MISP3, ZNF257, PGLYRP2, CCDC124, FBXO17, ARHGAP33, RASGRP4, NXNL1, CCDC151, ZNF653, ZNF526, CIB3, RLN3, CEACAM20, CALR3, ZNF441, ZNF491, ZNF440, SWSAP1, CCDC159, ZNF573, WDR88, EID2B, IRGQ, ZNF428, LRRC25, OR1I1, WTIP, ZNF792, NR2C2AP, HSPB6, CCDC105, CYP4F22, RINL, FBXO27, C19orf47, LINC00661, OR10H4
See casesPathogenic
(Mar 30, 2010)
no assertion criteria providedVCV000144406
2.
GRCh37:
Chr19:30152765-38605363
GRCh38:
Chr19:29661858-38114723
APLP1, ATP4A, CAPNS1, CCNE1, CD22, CEBPA, CEBPG, TBCB, COX6B1, COX7A1, ETV2, GPI, FFAR1, FFAR3, GPR42, FFAR2, HPN, LRP3, MAG, NPHS1, PEPD, FXYD1, FXYD3, POLR2I, SCN1B, TYROBP, USF2, ZNF146, URI1, PDCD5, KIAA0355, ZNF536, KMT2B, UBA2, TMEM147, HCST, UPK1A, SLC7A9, ZFP30, ZNF507, SIPA1L3, HAUS5, ZNF345, CLIP3, LSM14A, GAPDHS, ZBTB32, ZNF571, LSR, FXYD7, FXYD5, GPATCH1, PSENEN, ZNF302, LIN37, SLC7A10, TSHZ3, GRAMD1A, ZFP14, ZNF529, HAMP, PRODH2, CHST8, KCTD15, PLEKHF1, RBM42, LRFN3, IGFLR1, CEBPA-DT, C19orf12, WDR87, KIRREL2, ANKRD27, PDCD2L, ZNF527, ZNF607, NFKBID, CEP89, ZNF382, ZNF566, ALKBH6, RHPN2, ZNF30, FAAP24, TDRD12, ZNF461, ZNF585B, DMKN, ARHGAP33, ZNF573, WDR88, WTIP, ZNF792, HSPB6, ZNF420, ZNF565, DPY19L3, ZNF599, FAM187B, PROSER3, ZNF569, ZNF570, ZNF567, ZNF383, ZNF781, LGI4, SYNE4, ZNF540, ZNF585A, THAP8, U2AF1L4, SCGB2B2, WDR62, ZFP82, ZNF790-AS1, LOC284412, ZNF875, ZNF181, ZNF260, ZNF850, SBSN, ZNF829, ZNF568, RGS9BP, KRTDAP, ZNF790, NUDT19, ZNF793, LOC400684, LINC01801, LINC01529, SDHAF1, LOC644554, OVOL3, LOC728485, LOC728752, HPN-AS1, LINC01531, LOC100134317, TRT-AGT1-3, TMEM147-AS1, LINC00665, ZNF571-AS1, THEG5, LOC100631378, LINC00904, LINC01838, MIR5196, UPK1A-AS1, LINC01533, LINC01782, LOC101927572, ZNF529-AS1, LINC01534, LINC01535, ZNF793-AS1, MIR6887, ZNF30-AS1, LINC01766, LINC02841, LOC105372383, LINC01834, LINC01791, SNORA68B, LOC110120869, LOC110120870, LOC110120871, LOC110120872, LOC110120873, LOC110120875, LOC110120890, LOC110120927, LOC110120942, LOC111365151, LOC111365153, LOC111413028, LOC112543483, LOC112543484, LOC112543485, LOC112543486, LOC112543487, LOC112543488, LOC116276513
See casesPathogenic
(Oct 20, 2010)
no assertion criteria providedVCV000146619
3.
GRCh37:
Chr19:30162231-38393630
GRCh38:
Chr19:29671324-37902990
USF2, ZNF146, URI1, PDCD5, KIAA0355, ZNF536, KMT2B, UBA2, TMEM147, HCST, UPK1A, SLC7A9, ZFP30, ZNF507, HAUS5, ZNF345, CLIP3, LSM14A, GAPDHS, ZBTB32, ZNF571, LSR, FXYD7, FXYD5, GPATCH1, PSENEN, ZNF302, LIN37, SLC7A10, TSHZ3, GRAMD1A, ZFP14, ZNF529, HAMP, PRODH2, CHST8, KCTD15, PLEKHF1, RBM42, LRFN3, IGFLR1, CEBPA-DT, C19orf12, WDR87, KIRREL2, ANKRD27, PDCD2L, ZNF527, ZNF607, NFKBID, CEP89, ZNF382, ZNF566, ALKBH6, RHPN2, ZNF30, FAAP24, TDRD12, ZNF461, ZNF585B, DMKN, ARHGAP33, ZNF573, WDR88, WTIP, ZNF792, HSPB6, ZNF420, ZNF565, DPY19L3, ZNF599, FAM187B, PROSER3, ZNF569, ZNF570, ZNF567, ZNF383, ZNF781, LGI4, SYNE4, ZNF540, ZNF585A, THAP8, U2AF1L4, SCGB2B2, WDR62, ZFP82, ZNF790-AS1, LOC284412, ZNF875, ZNF181, ZNF260, ZNF850, SBSN, ZNF829, ZNF568, RGS9BP, KRTDAP, ZNF790, NUDT19, ZNF793, LOC400684, LINC01801, LINC01529, SDHAF1, LOC644554, OVOL3, LOC728485, LOC728752, HPN-AS1, LINC01531, LOC100134317, TRT-AGT1-3, TMEM147-AS1, LINC00665, ZNF571-AS1, THEG5, LOC100631378, LINC00904, LINC01838, MIR5196, UPK1A-AS1, LINC01533, LINC01782, LOC101927572, ZNF529-AS1, LINC01534, LINC01535, ZNF793-AS1, MIR6887, ZNF30-AS1, LINC01766, LINC02841, LOC105372383, LINC01834, LINC01791, SNORA68B, LOC110120869, LOC110120870, LOC110120871, LOC110120872, LOC110120873, LOC110120875, LOC110120890, LOC110120927, LOC110120942, LOC111365151, LOC111365153, LOC111413028, LOC112543483, LOC112543484, LOC112543485, LOC112543486, LOC112543487, LOC112543488, LOC116276513, APLP1, ATP4A, CAPNS1, CCNE1, CD22, CEBPA, CEBPG, TBCB, COX6B1, COX7A1, ETV2, GPI, FFAR1, FFAR3, GPR42, FFAR2, HPN, LRP3, MAG, NPHS1, PEPD, FXYD1, FXYD3, POLR2I, SCN1B, TYROBP
See casesPathogenic
(Jan 30, 2010)
no assertion criteria providedVCV000147631
4.
GRCh37:
Chr19:36545839
GRCh38:
Chr19:36054937
WDR62not specifiedLikely benign
(Apr 14, 2017)
criteria provided, single submitterVCV000506642
5.
GRCh37:
Chr19:36545883
GRCh38:
Chr19:36054981
WDR62V4LPrimary Microcephaly 2 With or Without Cortical Malformations, not providedUncertain significance
(Dec 31, 2016)
criteria provided, multiple submitters, no conflictsVCV000328904
6.
GRCh37:
Chr19:36545889
GRCh38:
Chr19:36054987
WDR62S6Anot providedUncertain significance
(Nov 10, 2017)
criteria provided, single submitterVCV000586938
7.
GRCh37:
Chr19:36545901
GRCh38:
Chr19:36054999
WDR62A10Snot providedUncertain significance
(Jan 23, 2015)
criteria provided, single submitterVCV000193156
8.
GRCh37:
Chr19:36545905
GRCh38:
Chr19:36055003
WDR62R11PPrimary autosomal recessive microcephaly 2Uncertain significance
(Apr 3, 2013)
criteria provided, single submitterVCV000160280
9.
GRCh37:
Chr19:36545910
GRCh38:
Chr19:36055008
WDR62D13Hnot providedUncertain significance
(Aug 15, 2016)
criteria provided, single submitterVCV000289838
10.
GRCh37:
Chr19:36545930
GRCh38:
Chr19:36055028
WDR62not providedLikely benign
(Sep 8, 2018)
criteria provided, single submitterVCV000750978
11.
GRCh37:
Chr19:36545946
GRCh38:
Chr19:36055046
WDR62Primary autosomal recessive microcephaly 2Uncertain significance
(Oct 26, 2018)
criteria provided, single submitterVCV000631811
12.
GRCh37:
Chr19:36545955
GRCh38:
Chr19:36055053
WDR62R28Wnot providedUncertain significance
(Sep 20, 2016)
criteria provided, single submitterVCV000290415
13.
GRCh37:
Chr19:36545955
GRCh38:
Chr19:36055053
WDR62R28GPrimary autosomal recessive microcephaly 2Uncertain significance
(Nov 15, 2012)
criteria provided, single submitterVCV000160307
14.
GRCh37:
Chr19:36545982
GRCh38:
Chr19:36055080
WDR62A37Pnot specifiedBenign
(Mar 6, 2015)
criteria provided, single submitterVCV000218506
15.
GRCh37:
Chr19:36546011
GRCh38:
Chr19:36055109
WDR62not providedLikely benign
(Jan 3, 2019)
criteria provided, single submitterVCV000797533
16.
GRCh37:
Chr19:36546015
GRCh38:
Chr19:36055113
WDR62L48Fnot specified, not provided, Primary autosomal recessive microcephaly 2
Benign/Likely benign
(Feb 12, 2019)
criteria provided, multiple submitters, no conflictsVCV000093535
17.
GRCh37:
Chr19:36546029
GRCh38:
Chr19:36055127
WDR62not providedUncertain significance
(Aug 7, 2013)
criteria provided, single submitterVCV000093536
18.
GRCh37:
Chr19:36546227
GRCh38:
Chr19:36055325
WDR62not providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000670275
19.
GRCh37:
Chr19:36549684
GRCh38:
Chr19:36058782
WDR62Primary Microcephaly 2 With or Without Cortical Malformations, not specified, Primary autosomal recessive microcephaly 2
Benign/Likely benign
(Jun 5, 2017)
criteria provided, multiple submitters, no conflictsVCV000160258
20.
GRCh37:
Chr19:36549690
GRCh38:
Chr19:36058788
WDR62not specifiedBenign
(Feb 8, 2013)
criteria provided, single submitterVCV000160259
21.
GRCh37:
Chr19:36549690
GRCh38:
Chr19:36058788
WDR62Primary Microcephaly 2 With or Without Cortical Malformations, not specified, Primary autosomal recessive microcephaly 2
Benign/Likely benign
(Jun 5, 2017)
criteria provided, multiple submitters, no conflictsVCV000137909
22.
GRCh37:
Chr19:36549693
GRCh38:
Chr19:36058791
WDR62E63Dnot providedConflicting interpretations of pathogenicity
(Jul 17, 2018)
criteria provided, conflicting interpretationsVCV000195110
23.
GRCh37:
Chr19:36549697
GRCh38:
Chr19:36058795
WDR62V65MPrimary autosomal recessive microcephaly 2Pathogenic
(Nov 1, 2010)
no assertion criteria providedVCV000031040
24.
GRCh37:
Chr19:36549707
GRCh38:
Chr19:36058805
WDR62I68Tnot provided, Primary autosomal recessive microcephaly 2Uncertain significance
(Oct 31, 2018)
criteria provided, multiple submitters, no conflictsVCV000497419
25.
GRCh37:
Chr19:36549735
GRCh38:
Chr19:36058833
WDR62not specifiedLikely benign
(Jul 31, 2017)
criteria provided, single submitterVCV000511154
26.
GRCh37:
Chr19:36549757
GRCh38:
Chr19:36058855
WDR62V85MPrimary Microcephaly 2 With or Without Cortical Malformations, not specified, Primary autosomal recessive microcephaly 2
Uncertain significance
(Oct 31, 2018)
criteria provided, multiple submitters, no conflictsVCV000328905
27.
GRCh37:
Chr19:36549785
GRCh38:
Chr19:36058883
WDR62Primary Microcephaly 2 With or Without Cortical Malformations, not specifiedConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretationsVCV000212602
28.
GRCh37:
Chr19:36549792
GRCh38:
Chr19:36058890
WDR62not specifiedLikely benign
(May 8, 2017)
criteria provided, single submitterVCV000382897
29.
GRCh37:
Chr19:36550861
GRCh38:
Chr19:36059959
WDR62not providedLikely benign
(May 23, 2018)
criteria provided, single submitterVCV000740387
30.
GRCh37:
Chr19:36550903
GRCh38:
Chr19:36060001
WDR62not providedLikely benign
(Mar 5, 2018)
criteria provided, single submitterVCV000735828
31.
GRCh37:
Chr19:36550903
GRCh38:
Chr19:36060001
WDR62N101Knot providedConflicting interpretations of pathogenicity
(Jul 31, 2018)
criteria provided, conflicting interpretationsVCV000426471
32.
GRCh37:
Chr19:36550912
GRCh38:
Chr19:36060010
WDR62Q104Hnot providedLikely benign
(Mar 30, 2018)
criteria provided, single submitterVCV000725695
33.
GRCh37:
Chr19:36550933
GRCh38:
Chr19:36060031
WDR62Primary autosomal recessive microcephaly 2Pathogenic
(Dec 18, 2012)
criteria provided, single submitterVCV000160282
34.
GRCh37:
Chr19:36556886
GRCh38:
Chr19:36065984
WDR62S120YPrimary autosomal recessive microcephaly 2Likely pathogenic
(Nov 29, 2012)
criteria provided, single submitterVCV000160292
35.
GRCh37:
Chr19:36556890
GRCh38:
Chr19:36065988
WDR62D122fsPrimary autosomal recessive microcephaly 2Pathogenic
(Nov 1, 2010)
no assertion criteria providedVCV000031039
36.
GRCh37:
Chr19:36556924
GRCh38:
Chr19:36066022
WDR62not specifiedLikely benign
(Jan 20, 2016)
criteria provided, single submitterVCV000378857
37.
GRCh37:
Chr19:36557149
GRCh38:
Chr19:36066247
WDR62not providedLikely benign
(Jun 1, 2018)
criteria provided, multiple submitters, no conflictsVCV000670072
38.
GRCh37:
Chr19:36557181
GRCh38:
Chr19:36066279
WDR62R138Hnot specifiedUncertain significance
(Jun 17, 2015)
criteria provided, single submitterVCV000212606
39.
GRCh37:
Chr19:36557245
GRCh38:
Chr19:36066343
WDR62not specified, not providedConflicting interpretations of pathogenicity
(Apr 3, 2018)
criteria provided, conflicting interpretationsVCV000282359
40.
GRCh37:
Chr19:36557293
GRCh38:
Chr19:36066391
WDR62not providedConflicting interpretations of pathogenicity
(May 17, 2018)
criteria provided, conflicting interpretationsVCV000501110
41.
GRCh37:
Chr19:36557308
GRCh38:
Chr19:36066406
WDR62not specifiedLikely benign
(Oct 29, 2015)
criteria provided, single submitterVCV000437278
42.
GRCh37:
Chr19:36557321
GRCh38:
Chr19:36066419
WDR62D185Nnot providedUncertain significance
(May 31, 2017)
criteria provided, single submitterVCV000444460
43.
GRCh37:
Chr19:36557373
GRCh38:
Chr19:36066471
WDR62not specifiedLikely benignno assertion criteria providedVCV000160304
44.
GRCh37:
Chr19:36557619
GRCh38:
Chr19:36066717
WDR62not providedLikely benign
(Jun 14, 2018)
criteria provided, single submitterVCV000668982
45.
GRCh37:
Chr19:36557873
GRCh38:
Chr19:36066971
WDR62not providedBenign
(Jun 19, 2018)
criteria provided, single submitterVCV000667587
46.
GRCh37:
Chr19:36557884
GRCh38:
Chr19:36066982
WDR62not providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000671306
47.
GRCh37:
Chr19:36558113
GRCh38:
Chr19:36067211
WDR62not providedBenign
(Jun 19, 2018)
criteria provided, single submitterVCV000670276
48.
GRCh37:
Chr19:36558195
GRCh38:
Chr19:36067293
WDR62Primary Microcephaly 2 With or Without Cortical Malformations, not specifiedBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflictsVCV000160305
49.
GRCh37:
Chr19:36558216
GRCh38:
Chr19:36067314
WDR62not specifiedLikely benign
(Oct 12, 2017)
criteria provided, single submitterVCV000388017
50.
GRCh37:
Chr19:36558235
GRCh38:
Chr19:36067333
WDR62V197IPrimary autosomal recessive microcephaly 2Uncertain significance
(Feb 8, 2013)
criteria provided, single submitterVCV000160306
51.
GRCh37:
Chr19:36558302
GRCh38:
Chr19:36067400
WDR62R219Hnot specifiedUncertain significance
(Oct 8, 2014)
criteria provided, single submitterVCV000212609
52.
GRCh37:
Chr19:36558317
GRCh38:
Chr19:36067415
WDR62W224SPrimary autosomal recessive microcephaly 2Pathogenic
(Sep 9, 2010)
no assertion criteria providedVCV000000042
53.
GRCh37:
Chr19:36558339
GRCh38:
Chr19:36067437
WDR62not specifiedLikely benign
(Jun 14, 2017)
criteria provided, single submitterVCV000517901
54.
GRCh37:
Chr19:36558356
GRCh38:
Chr19:36067454
WDR62Primary Microcephaly 2 With or Without Cortical MalformationsUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000328906
55.
GRCh37:
Chr19:36558361
GRCh38:
Chr19:36067459
WDR62not specifiedLikely benign
(Oct 14, 2015)
criteria provided, single submitterVCV000378858
56.
GRCh37:
Chr19:36558712
GRCh38:
Chr19:36067810
WDR62not specified, Primary autosomal recessive microcephaly 2Benign
(Sep 21, 2015)
criteria provided, multiple submitters, no conflictsVCV000137906
57.
GRCh37:
Chr19:36558715
GRCh38:
Chr19:36067813
WDR62not specifiedLikely benign
(Jul 29, 2016)
criteria provided, single submitterVCV000388180
58.
GRCh37:
Chr19:36558730
GRCh38:
Chr19:36067828
WDR62V234Lnot providedUncertain significance
(Oct 31, 2017)
criteria provided, single submitterVCV000493251
59.
GRCh37:
Chr19:36558774
GRCh38:
Chr19:36067872
WDR62not provided, not specifiedBenign/Likely benign
(Dec 31, 2018)
criteria provided, multiple submitters, no conflictsVCV000514101
60.
GRCh37:
Chr19:36558791-36558793
GRCh38:
Chr19:36067889-36067891
WDR62F255delnot providedUncertain significance
(Mar 31, 2017)
criteria provided, single submitterVCV000425169
61.
GRCh37:
Chr19:36558808
GRCh38:
Chr19:36067906
WDR62C260Rnot providedLikely pathogenic
(Mar 30, 2015)
criteria provided, single submitterVCV000372602
62.
GRCh37:
Chr19:36558821
GRCh38:
Chr19:36067919
WDR62R264QPrimary Microcephaly 2 With or Without Cortical MalformationsUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000328907
63.
GRCh37:
Chr19:36558850
GRCh38:
Chr19:36067948
WDR62Y274DPrimary Microcephaly 2 With or Without Cortical Malformations, not providedUncertain significance
(Dec 14, 2016)
criteria provided, multiple submitters, no conflictsVCV000328908
64.
GRCh37:
Chr19:36558851
GRCh38:
Chr19:36067949
WDR62Y274CPrimary Microcephaly 2 With or Without Cortical MalformationsUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000328909
65.
GRCh37:
Chr19:36558861
GRCh38:
Chr19:36067959
WDR62not specified, not providedLikely benign
(Feb 28, 2018)
criteria provided, multiple submitters, no conflictsVCV000437279
66.
GRCh37:
Chr19:36558896
GRCh38:
Chr19:36067994
WDR62K289RPrimary Microcephaly 2 With or Without Cortical Malformations, not specified, not provided
Conflicting interpretations of pathogenicity
(Oct 24, 2018)
criteria provided, conflicting interpretationsVCV000160308
67.
GRCh37:
Chr19:36558905
GRCh38:
Chr19:36068003
WDR62N292Tnot providedConflicting interpretations of pathogenicity
(Aug 5, 2018)
criteria provided, conflicting interpretationsVCV000452171
68.
GRCh37:
Chr19:36562292
GRCh38:
Chr19:36071390
WDR62not providedBenign
(Jun 19, 2018)
criteria provided, single submitterVCV000670277
69.
GRCh37:
Chr19:36562454-36562465
GRCh38:
Chr19:36071552-36071563
WDR62Primary autosomal recessive microcephaly 2Likely pathogenic
(Jun 21, 2019)
no assertion criteria providedVCV000635184
70.
GRCh37:
Chr19:36562497
GRCh38:
Chr19:36071595
WDR62I308Vnot providedUncertain significance
(Oct 6, 2016)
criteria provided, single submitterVCV000497245
71.
GRCh37:
Chr19:36562527
GRCh38:
Chr19:36071625
WDR62R318Cnot providedUncertain significance
(May 15, 2017)
criteria provided, single submitterVCV000429939
72.
GRCh37:
Chr19:36562539
GRCh38:
Chr19:36071637
WDR62A322PPrimary autosomal recessive microcephaly 2Uncertain significance
(Mar 4, 2013)
criteria provided, single submitterVCV000160309
73.
GRCh37:
Chr19:36562621
GRCh38:
Chr19:36071719
WDR62not provided, Primary autosomal recessive microcephaly 2Uncertain significance
(May 16, 2016)
criteria provided, multiple submitters, no conflictsVCV000160243
74.
GRCh37:
Chr19:36564262
GRCh38:
Chr19:36073360
WDR62not providedLikely benign
(May 30, 2017)
criteria provided, single submitterVCV000778829
75.
GRCh37:
Chr19:36564264
GRCh38:
Chr19:36073362
WDR62A355VPrimary Microcephaly 2 With or Without Cortical MalformationsUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000328910
76.
GRCh37:
Chr19:36564295
GRCh38:
Chr19:36073393
WDR62not specifiedUncertain significance
(Feb 20, 2017)
criteria provided, single submitterVCV000437280
77.
GRCh37:
Chr19:36564329
GRCh38:
Chr19:36073427
WDR62V377Lnot providedUncertain significance
(Sep 30, 2018)
criteria provided, single submitterVCV000623946
78.
GRCh37:
Chr19:36564357
GRCh38:
Chr19:36073455
WDR62W386*not providedPathogenic
(Oct 23, 2018)
criteria provided, single submitterVCV000620430
79.
GRCh37:
Chr19:36564370
GRCh38:
Chr19:36073468
WDR62not providedUncertain significance
(Jun 24, 2014)
criteria provided, single submitterVCV000199057
80.
GRCh37:
Chr19:36564418
GRCh38:
Chr19:36073516
WDR62not providedLikely benign
(Jun 26, 2017)
criteria provided, single submitterVCV000785620
81.
GRCh37:
Chr19:36564425
GRCh38:
Chr19:36073523
WDR62N409Dnot specified, not provided, Primary autosomal recessive microcephaly 2
Benign/Likely benign
(Oct 31, 2018)
criteria provided, multiple submitters, no conflictsVCV000160244
82.
GRCh37:
Chr19:36564428
GRCh38:
Chr19:36073526
WDR62V410Lnot specified, not providedConflicting interpretations of pathogenicity
(Dec 19, 2017)
criteria provided, conflicting interpretationsVCV000167848
83.
GRCh37:
Chr19:36564440
GRCh38:
Chr19:36073538
WDR62not providedUncertain significance
(Sep 30, 2018)
criteria provided, multiple submitters, no conflictsVCV000167849
84.
GRCh37:
Chr19:36564443
GRCh38:
Chr19:36073541
WDR62not providedLikely benign
(Dec 14, 2017)
criteria provided, single submitterVCV000732066
85.
GRCh37:
Chr19:36564446
GRCh38:
Chr19:36073544
WDR62Primary Microcephaly 2 With or Without Cortical Malformations, not specifiedBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflictsVCV000160245
86.
GRCh37:
Chr19:36564448
GRCh38:
Chr19:36073546
WDR62Primary Microcephaly 2 With or Without Cortical Malformations, not specifiedConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretationsVCV000212597
87.
GRCh37:
Chr19:36564448
GRCh38:
Chr19:36073546
WDR62Primary Microcephaly 2 With or Without Cortical Malformations, not specifiedConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretationsVCV000199056
88.
GRCh37:
Chr19:36564653
GRCh38:
Chr19:36073751
WDR62not providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000670861
89.
GRCh37:
Chr19:36572339
GRCh38:
Chr19:36081437
WDR62Y413Fnot providedUncertain significance
(Sep 21, 2017)
criteria provided, single submitterVCV000452198
90.
GRCh37:
Chr19:36572413
GRCh38:
Chr19:36081511
WDR62R438CPrimary autosomal recessive microcephaly 2Likely pathogenic
(Feb 8, 2013)
criteria provided, single submitterVCV000160246
91.
GRCh37:
Chr19:36572414
GRCh38:
Chr19:36081512
WDR62R438HPrimary autosomal recessive microcephaly 2Pathogenic
(Nov 1, 2010)
no assertion criteria providedVCV000031035
92.
GRCh37:
Chr19:36572416
GRCh38:
Chr19:36081514
WDR62F439Vnot specified, not providedBenign
(Jan 4, 2019)
criteria provided, multiple submitters, no conflictsVCV000160247
93.
GRCh37:
Chr19:36572443
GRCh38:
Chr19:36081541
WDR62S448Tnot specified, not providedUncertain significance
(Apr 5, 2016)
criteria provided, multiple submitters, no conflictsVCV000286945
94.
GRCh37:
Chr19:36572460
GRCh38:
Chr19:36081558
WDR62Primary Microcephaly 2 With or Without Cortical Malformations, not specified, not provided
Conflicting interpretations of pathogenicity
(Aug 1, 2018)
criteria provided, conflicting interpretationsVCV000212598
95.
GRCh37:
Chr19:36572478
GRCh38:
Chr19:36081576
WDR62not providedUncertain significance
(May 1, 2017)
criteria provided, single submitterVCV000501458
96.
GRCh37:
Chr19:36572564
GRCh38:
Chr19:36081662
WDR62not providedBenign
(Jun 19, 2018)
criteria provided, single submitterVCV000672329
97.
GRCh37:
Chr19:36573955
GRCh38:
Chr19:36083053
WDR62not providedLikely benign
(May 10, 2018)
criteria provided, single submitterVCV000668295
98.
GRCh37:
Chr19:36574001
GRCh38:
Chr19:36083099
WDR62Q470*Primary autosomal recessive microcephaly 2Pathogenic
(Sep 9, 2010)
no assertion criteria providedVCV000000043
99.
GRCh37:
Chr19:36574027
GRCh38:
Chr19:36083125
WDR62F478Lnot specifiedLikely benign
(Dec 12, 2017)
criteria provided, multiple submitters, no conflictsVCV000437288
100.
GRCh37:
Chr19:36574055
GRCh38:
Chr19:36083153
WDR62P488Snot providedUncertain significance
(Apr 17, 2018)
criteria provided, single submitterVCV000586937
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