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Items: 14

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr19:36139172
GRCh38:
Chr19:35648270
COX6B1Cytochrome-c oxidase deficiencyLikely benign
(Jun 14, 2016)
criteria provided, single submitter
2.
GRCh37:
Chr19:36139184
GRCh38:
Chr19:35648282
COX6B1Cytochrome-c oxidase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
3.
GRCh37:
Chr19:36139270
GRCh38:
Chr19:35648368
COX6B1Cytochrome-c oxidase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr19:36142187
GRCh38:
Chr19:35651285
COX6B1Cytochrome-c oxidase deficiency, not specifiedBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr19:36142203
GRCh38:
Chr19:35651301
COX6B1Cytochrome-c oxidase deficiencyPathogenic
(Feb 1, 2015)
no assertion criteria provided
6.
GRCh37:
Chr19:36142204
GRCh38:
Chr19:35651302
COX6B1Cytochrome-c oxidase deficiencyPathogenic
(Jun 1, 2008)
no assertion criteria provided
7.
GRCh37:
Chr19:36145457
GRCh38:
Chr19:35654555
COX6B1not specifiedLikely benign
(Mar 11, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr19:36145502
GRCh38:
Chr19:35654600
COX6B1not specifiedUncertain significance
(Jul 31, 2015)
criteria provided, single submitter
9.
GRCh37:
Chr19:36149516
GRCh38:
Chr19:35658614
COX6B1not specifiedBenign
(Feb 3, 2014)
criteria provided, single submitter
10.
GRCh37:
Chr19:36149535
GRCh38:
Chr19:35658633
COX6B1Cytochrome-c oxidase deficiency, not specifiedUncertain significance
(Nov 2, 2016)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr19:35723176-36183886
See casesUncertain significanceno assertion criteria provided
12.
GRCh37:
Chr19:30162231-38393630
GRCh38:
Chr19:29671324-37902990
See casesPathogenic
(Jan 30, 2010)
no assertion criteria provided
13.
GRCh37:
Chr19:30152765-38605363
GRCh38:
Chr19:29661858-38114723
See casesPathogenic
(Oct 20, 2010)
no assertion criteria provided
14.
GRCh37:
Chr19:11338618-45129651
GRCh38:
Chr19:11227942-44626354
ACP5, ACTN4, AKT2, APLP1, ASNA1, 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, 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, CYP2G1P, 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, C19orf60, GPATCH1, SAMD4B, ATP5SL, 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, C19orf43, DDA1, KXD1, TMEM38A, KCTD15, SMIM7, PLEKHF1, RBM42, C19orf57, ZNF576, LRFN3, ABHD8, OCEL1, COLGALT1, IGFLR1, EPHX3, PODNL1, COQ8B, CNTD2, SLC35E1, ZNF442, CEBPA-AS1, ZNF430, ITPKC, PBX4, KIAA1683, 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, ANKLE1, IGSF23, LYPD4, HIPK4, ZNF563, ZNF420, ZNF565, FAM98C, CAPN12, DPY19L3, LGALS16, TTC9B, ZNF599, FAM187B, CILP2, PROSER3, LINC00906, LINC00662, ZNF98, 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, FAM129C, 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, HKR1, ZNF181, ZNF260, ZNF546, VSTM2B, ZNF850, NCCRP1, SYCN, LEUTX, ZNF404, ZNF284, NANOS3, PALM3, SELENOV, ZNF429, ZNF233, TMEM205, YJEFN3, LINC01785, SBSN, ZNF829, ZNF568, B3GNT8, SLC27A1, ZNF788, CLEC17A, ZNF728, RGS9BP, KRTDAP, ZNF790, OR7A10, NUDT19, ZNF793, ACP7, LOC390937, PINLYP, SPRED3, LINC00664, LOC400682, LOC400684, LINC01801, HAPLN4, MIR181C, MIR23A, MIR24-2, MIR27A, ZNF506, PSG8, MIR181D, TMEM91, CCER2, LINC01529, SDHAF1, LOC644554, C19orf67, ZNF723, LOC648044, UCA1, PSG10P, LGALS7B, PHLDB3, MIR639, MIR640, MIR641, OVOL3, LOC728485, LOC728752, ZNF878, LOC729966, BORCS8, ZNF726, LINC01233, HPN-AS1, LINC01531, ZNF730, ZNF807, 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, TMEM147-AS1, LINC00665, LOC100507373, ZNF571-AS1, THEG5, 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, LOC101928464, LINC01842, LOC101929124, LINC01858, LINC01859, LOC101930071, MIR6795, MIR6796, MIR6797, MIR7974, MIR8077, MIR6719, MIR6794, MIR6887, MIR1199, MIR6515, ZNF30-AS1, LINC01766, LINC01835, LOC102724360, LOC102724908, LOC102724958, LOC102725254, LINC01224, BISPR, LOC105372280, LINC01841, LINC01764, LINC01855, FFAR2, LOC105372383, LOC105372397, SNORD135, SNORA104
See casesPathogenic
(Mar 30, 2010)
no assertion criteria provided
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