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Items: 16

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
MEGF8Carpenter syndrome 2Pathogenic
(Nov 2, 2012)
no assertion criteria provided
2.
GRCh37:
Chr19:42837895
GRCh38:
Chr19:42333743
MEGF8not specifiedUncertain significance
(Feb 2, 2017)
criteria provided, single submitter
3.
GRCh37:
Chr19:42840333
GRCh38:
Chr19:42336181
MEGF8not specifiedUncertain significance
(Feb 24, 2017)
criteria provided, single submitter
4.
GRCh37:
Chr19:42841029
GRCh38:
Chr19:42336877
MEGF8not specifiedUncertain significance
(Feb 24, 2017)
criteria provided, single submitter
5.
GRCh37:
Chr19:42841056
GRCh38:
Chr19:42336904
MEGF8Carpenter syndrome 2Pathogenic
(Nov 2, 2012)
no assertion criteria provided
6.
GRCh37:
Chr19:42857121
GRCh38:
Chr19:42352969
MEGF8not specifiedUncertain significance
(Mar 10, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr19:42858176
GRCh38:
Chr19:42354024
MEGF8not specifiedUncertain significance
(Nov 22, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr19:42861000
GRCh38:
Chr19:42356848
MEGF8Carpenter syndrome 2Pathogenic
(Nov 2, 2012)
no assertion criteria provided
9.
GRCh37:
Chr19:42865019
GRCh38:
Chr19:42360867
MEGF8not specifiedUncertain significance
(Aug 1, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr19:42872598
GRCh38:
Chr19:42368446
MEGF8not specifiedUncertain significance
(Sep 14, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr19:42879689
GRCh38:
Chr19:42375537
MEGF8Carpenter syndrome 2Pathogenic
(Nov 2, 2012)
no assertion criteria provided
12.
GRCh37:
Chr19:42880062
GRCh38:
Chr19:42375910
MEGF8not providedLikely benign
(May 16, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr19:42880163
GRCh38:
Chr19:42376011
MEGF8not specifiedUncertain significance
(Jun 8, 2015)
criteria provided, single submitter
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, 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, 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, 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-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, 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, 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, RPSAP58, RGS9BP, KRTDAP, ZNF790, OR7A10, NUDT19, ZNF793, ACP7, LOC390937, PINLYP, SPRED3, LINC00664, LOC400682, LOC400684, LINC01801, HAPLN4, MIR181C, MIR23A, MIR24-2, MIR27A, ZNF506, ZNF724, 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, 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, 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, GNG14, LINC01841, LINC01764, LINC01855, FFAR2, LOC105372383, LOC105372397, SNORD135, SNORA104, LINC01791
See casesPathogenic
(Mar 30, 2010)
no assertion criteria provided
15.
GRCh37:
Chr19:42514712-43645608
GRCh38:
Chr19:41930894-43141456
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
16.
GRCh37:
Chr19:37810279-43242840
GRCh38:
Chr19:37319377-42738688
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
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