| - GRCh37:
- Chr5:89670423-127412115
- GRCh38:
- Chr5:90374606-128076423
| ADGRV1, ALDH7A1, AP3S1, APC, ARL14EPL, ARRDC3, ARRDC3-AS1, ARSK, ATG12, C5orf63, CAMK4, CAST, CCDC112, CCDC192, CDO1, CEP120, CETN3, CHD1, CHD1-DT, COMMD10, CSNK1G3, CTXN3, DCP2, DMXL1, DMXL1-DT, DTWD2, EFNA5, ELL2, EPB41L4A, EPB41L4A-AS1, EPB41L4A-DT, ERAP1, ERAP2, FAM170A, FAM172A, FAM174A, FAM174A-DT, FAM81B, FBXL17, FEM1C, FER, FTMT, GIN1, GLRX, GPR150, GRAMD2B, HSD17B4, KCNN2, KIAA0825, LINC00491, LINC00492, LINC00992, LINC01023, LINC01170, LINC01340, LINC01554, LINC01846, LINC01848, LINC01950, LINC01957, LINC02039, LINC02113, LINC02115, LINC02147, LINC02148, LINC02200, LINC02201, LINC02208, LINC02214, LINC02215, LINC02216, LINC02234, LINC02240, LINCADL, LIX1, LIX1-AS1, LMNB1, LMNB1-DT, LNPEP, LOC100289230, LOC100505841, LOC101927023, LOC101927078, LOC101927190, LOC101927357, LOC101927421, LOC101927488, LOC101929710, LOC102467216, LOC102467217, LOC102467226, LOC102724720, LOC110120605, LOC110120640, LOC110120641, LOC110120699, LOC110120744, LOC110120808, LOC110120815, LOC110120966, LOC110120971, LOC110120974, LOC110120977, LOC110120982, LOC110120991, LOC110121009, LOC110121012, LOC110121013, LOC110121035, LOC110121070, LOC110121082, LOC110121084, LOC110121147, LOC110121173, LOC110121176, LOC110121194, LOC110121303, LOC112997552, LOC112997553, LOC112997554, LOC112997555, LOC112997556, LOC113002596, LOC114004395, LOC121079951, LOC121079952, LOC121079953, LOC121079954, LOC121079955, LOC121079956, LOC121079957, LOC121079958, LOC121079959, LOC121725211, LOC121725212, LOC121725213, LOC121725214, LOC121725215, LOC121725216, LOC123497934, LOC123497935, LOC123497936, LOC123497937, LOC123497938, LOC123497939, LOC123497940, LOC123497941, LOC123497942, LOC123497943, LOC123497944, LOC123497945, LOC123497946, LOC123497947, LOC123497948, LOC123497949, LOC123497950, LOC123497951, LOC123497953, LOC123497954, LOC123497955, LOC123497956, LOC123497958, LOC123497959, LOC123497960, LOC123497961, LOC123497962, LOC123497963, LOC123497964, LOC126807449, LOC126807450, LOC126807451, LOC126807452, LOC126807453, LOC126807454, LOC126807455, LOC126807456, LOC126807457, LOC126807458, LOC126807459, LOC126807460, LOC126807461, LOC126807462, LOC126807463, LOC126807464, LOC126807465, LOC126807466, LOC126807467, LOC126807468, LOC126807469, LOC126807470, LOC126807471, LOC126807472, LOC126807473, LOC126807474, LOC126807475, LOC126807476, LOC126807477, LOC126807478, LOC126807479, LOC126807480, LOC126807481, LOC126807482, LOC126807483, LOC126807484, LOC126807485, LOC126807486, LOC126807487, LOC126807488, LOC126807489, LOC126807490, LOC126807491, LOC126807492, LOC126807493, LOC126807494, LOC126807495, LOC126807496, LOC126807497, LOC126807498, LOC126807499, LOC126807500, LOC128772265, LOC128772266, LOC128772267, LOC128772268, LOC128772269, LOC128772270, LOC128772271, LOC128772272, LOC128772273, LOC285638, LOC731157, LOX, LUCAT1, LVRN, LYSMD3, MACIR, MAN2A1, MARCHF3, MBLAC2, MCC, MCTP1, MEGF10, MGC32805, MIR12130, MIR1244-2, MIR2277, MIR548F3, MIR548P, MIR5706, MIR583, NR2F1, NR2F1-AS1, NREP, NREP-AS1, NUDT12, PAM, PCSK1, PGGT1B, PHAX, PJA2, POLR3G, POU5F2, PPIC, PPIP5K2, PRDM6, PRDM6-AS1, PRR16, PRRC1, REEP5, RFESD, RGMB, RGMB-AS1, RHOBTB3, RIOK2, SEMA6A, SEMA6A-AS1, SEMA6A-AS2, SKIC3, SLC12A2-DT, SLC25A46, SLCO4C1, SLCO6A1, SLF1, SNCAIP, SNORA13, SNX2, SNX24, SPATA9, SRFBP1, SRP19, ST8SIA4, STARD4, STARD4-AS1, TEX43, TICAM2, TICAM2-AS1, TMED7, TMED7-TICAM2, TMEM232, TNFAIP8, TRIM36, TSLP, TSSK1B, WDR36, YTHDC2, ZNF474, ZNF474-AS1, ZNF608 | | See cases | Pathogenic (Jul 18, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr5:90707525-130655256
- GRCh38:
- Chr5:91411708-131319563
| ADAMTS19, ADAMTS19-AS1, ALDH7A1, AP3S1, APC, ARL14EPL, ARRDC3-AS1, ARSK, ATG12, C5orf63, CAMK4, CAST, CCDC112, CCDC192, CDC42SE2, CDO1, CEP120, CHD1, CHD1-DT, CHSY3, COMMD10, CSNK1G3, CTXN3, DCP2, DMXL1, DMXL1-DT, DTWD2, EFNA5, ELL2, EPB41L4A, EPB41L4A-AS1, EPB41L4A-DT, ERAP1, ERAP2, FAM170A, FAM172A, FAM174A, FAM174A-DT, FAM81B, FBN2, FBXL17, FEM1C, FER, FTMT, GIN1, GLRX, GPR150, GRAMD2B, HINT1, HSD17B4, ISOC1, KCNN2, KIAA0825, LINC00491, LINC00492, LINC00992, LINC01023, LINC01170, LINC01340, LINC01554, LINC01846, LINC01848, LINC01950, LINC01957, LINC02039, LINC02113, LINC02115, LINC02147, LINC02148, LINC02200, LINC02201, LINC02208, LINC02214, LINC02215, LINC02216, LINC02234, LINC02240, LINCADL, LIX1, LIX1-AS1, LMNB1, LMNB1-DT, LNPEP, LOC100289230, LOC100505841, LOC101927023, LOC101927078, LOC101927190, LOC101927357, LOC101927421, LOC101927488, LOC101929710, LOC102467216, LOC102467217, LOC102467226, LOC102724720, LOC110120605, LOC110120640, LOC110120641, LOC110120699, LOC110120744, LOC110120808, LOC110120815, LOC110120966, LOC110120971, LOC110120974, LOC110120977, LOC110120982, LOC110120991, LOC110121009, LOC110121012, LOC110121013, LOC110121035, LOC110121070, LOC110121082, LOC110121084, LOC110121147, LOC110121173, LOC110121176, LOC110121194, LOC110121303, LOC112997552, LOC112997553, LOC112997554, LOC112997555, LOC112997556, LOC112997557, LOC113002596, LOC114004395, LOC121079951, LOC121079952, LOC121079953, LOC121079954, LOC121079955, LOC121079956, LOC121079957, LOC121079958, LOC121079959, LOC121725211, LOC121725212, LOC121725213, LOC121725214, LOC121725215, LOC121725216, LOC123497936, LOC123497937, LOC123497938, LOC123497939, LOC123497940, LOC123497941, LOC123497942, LOC123497943, LOC123497944, LOC123497945, LOC123497946, LOC123497947, LOC123497948, LOC123497949, LOC123497950, LOC123497951, LOC123497953, LOC123497954, LOC123497955, LOC123497956, LOC123497958, LOC123497959, LOC123497960, LOC123497961, LOC123497962, LOC123497963, LOC123497964, LOC123497965, LOC123497966, LOC126807451, LOC126807452, LOC126807453, LOC126807454, LOC126807455, LOC126807456, LOC126807457, LOC126807458, LOC126807459, LOC126807460, LOC126807461, LOC126807462, LOC126807463, LOC126807464, LOC126807465, LOC126807466, LOC126807467, LOC126807468, LOC126807469, LOC126807470, LOC126807471, LOC126807472, LOC126807473, LOC126807474, LOC126807475, LOC126807476, LOC126807477, LOC126807478, LOC126807479, LOC126807480, LOC126807481, LOC126807482, LOC126807483, LOC126807484, LOC126807485, LOC126807486, LOC126807487, LOC126807488, LOC126807489, LOC126807490, LOC126807491, LOC126807492, LOC126807493, LOC126807494, LOC126807495, LOC126807496, LOC126807497, LOC126807498, LOC126807499, LOC126807500, LOC126807501, LOC126807502, LOC126807503, LOC126807504, LOC285638, LOX, LVRN, LYRM7, MACIR, MAN2A1, MARCHF3, MCC, MCTP1, MEGF10, MGC32805, MINAR2, MIR12130, MIR1244-2, MIR2277, MIR4460, MIR4633, MIR548F3, MIR548P, MIR5706, MIR583, NR2F1, NR2F1-AS1, NREP, NREP-AS1, NUDT12, PAM, PCSK1, PGGT1B, PHAX, PJA2, POU5F2, PPIC, PPIP5K2, PRDM6, PRDM6-AS1, PRR16, PRRC1, REEP5, RFESD, RGMB, RGMB-AS1, RHOBTB3, RIOK2, SEMA6A, SEMA6A-AS1, SEMA6A-AS2, SKIC3, SLC12A2, SLC12A2-DT, SLC25A46, SLC27A6, SLCO4C1, SLCO6A1, SLF1, SNCAIP, SNORA13, SNX2, SNX24, SPATA9, SRFBP1, SRP19, ST8SIA4, STARD4, STARD4-AS1, TEX43, TICAM2, TICAM2-AS1, TMED7, TMED7-TICAM2, TMEM232, TNFAIP8, TRIM36, TSLP, TSSK1B, WDR36, YTHDC2, ZNF474, ZNF474-AS1, ZNF608 | | See cases | Pathogenic (Mar 18, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr5:105955289-155551397
- GRCh38:
- Chr5:106619588-156124387
| ABLIM3, ACSL6, ACSL6-AS1, ADAMTS19, ADAMTS19-AS1, ADRB2, AFAP1L1, AFF4, ALDH7A1, ANKHD1, ANKHD1-EIF4EBP3, ANXA6, AP3S1, APBB3, APC, ARAP3, ARHGAP26, ARHGAP26-AS1, ARHGAP26-IT1, ARHGEF37, ARL14EPL, ARSI, ATG12, ATOX1, ATOX1-AS1, BRD8, C5orf15, C5orf24, C5orf46, C5orf63, CAMK2A, CAMK4, CAMLG, CARMN, CATSPER3, CCDC112, CCDC192, CCDC69, CCNI2, CD14, CD74, CDC23, CDC25C, CDC42SE2, CDKL3, CDKN2AIPNL, CDO1, CDX1, CEP120, CHSY3, CLMAT3, CNOT8, COMMD10, CSF1R, CSF2, CSNK1A1, CSNK1G3, CTNNA1, CTNNA1-AS1, CTXN3, CXCL14, CXXC5, CXXC5-AS1, CYSTM1, DCANP1, DCP2, DCTN4, DDX46, DELE1, DIAPH1, DIAPH1-AS1, DMXL1, DMXL1-DT, DNAJC18, DND1, DPYSL3, DTWD2, ECSCR, EFNA5, EGR1, EIF4EBP3, EPB41L4A, EPB41L4A-AS1, EPB41L4A-DT, EPIST, ETF1, FAM114A2, FAM13B, FAM13B-AS1, FAM170A, FAM53C, FAT2, FAXDC2, FBN2, FBXL17, FBXO38, FBXO38-DT, FCHSD1, FEM1C, FER, FGF1, FNIP1, FSTL4, FTMT, G3BP1, GALNT10, GDF9, GEMIN5, GFRA3, GLRA1, GM2A, GNPDA1, GPR151, GPX3, GRAMD2B, GRIA1, GRPEL2, GRPEL2-AS1, GRXCR2, HAND1, HARS1, HARS2, HBEGF, HDAC3, HINT1, HMGXB3, HMHB1, HNRNPA0, HSD17B4, HSPA4, HSPA9, HTR4, IGIP, IK, IL13, IL17B, IL3, IL4, IL5, IL9, IRF1, IRF1-AS1, IRGM, ISOC1, JADE2, JAKMIP2, JAKMIP2-AS1, KCNN2, KCTD16, KDM3B, KIF20A, KIF3A, KIF4B, KLHL3, LARP1, LARS1, LEAP2, LECT2, LINC00992, LINC01023, LINC01170, LINC01470, LINC01843, LINC01844, LINC01848, LINC01861, LINC01933, LINC01950, LINC01957, LINC02039, LINC02147, LINC02148, LINC02200, LINC02201, LINC02208, LINC02214, LINC02215, LINC02216, LINC02240, LINC02863, LINC02900, LINC02999, LINCADL, LMNB1, LMNB1-DT, LOC100128966, LOC100505841, LOC100652758, LOC101927023, LOC101927078, LOC101927190, LOC101927357, LOC101927421, LOC101927488, LOC101929719, LOC102467216, LOC102467217, LOC102467226, LOC105378230, LOC105379176, LOC105379183, LOC105379192, LOC107198087, LOC107986453, LOC108178993, LOC108228201, LOC108281143, LOC108449898, LOC108660405, LOC109113859, LOC109113860, LOC109113862, LOC110121070, LOC110121082, LOC110121084, LOC110121107, LOC110121118, LOC110121171, LOC110121173, LOC110121194, LOC110121202, LOC110121271, LOC110121303, LOC111188152, LOC111188153, LOC111188154, LOC111188156, LOC111365180, LOC111429606, LOC111500310, LOC111828524, LOC112267934, LOC112997552, LOC112997553, LOC112997554, LOC112997555, LOC112997556, LOC112997557, LOC112997558, LOC112997559, LOC112997560, LOC112997561, LOC112997562, LOC112997563, LOC112997564, LOC112997565, LOC112997566, LOC112997567, LOC112997568, LOC112997569, LOC112997570, LOC114004387, LOC114004388, LOC114004389, LOC114004390, LOC116158522, LOC116158523, LOC116158524, LOC116158525, LOC116158526, LOC119407423, LOC120285837, LOC121079954, LOC121079955, LOC121079956, LOC121079957, LOC121079958, LOC121079959, LOC121079960, LOC121079961, LOC121079962, LOC121099701, LOC121099702, LOC121099703, LOC121099704, LOC121099705, LOC121099706, LOC121099707, LOC121099708, LOC121099709, LOC121099710, LOC121725211, LOC121725212, LOC121725213, LOC121725214, LOC121725215, LOC121725216, LOC121725217, LOC121740630, LOC121740631, LOC123497947, LOC123497948, LOC123497949, LOC123497950, LOC123497951, LOC123497953, LOC123497954, LOC123497955, LOC123497956, LOC123497958, LOC123497959, LOC123497960, LOC123497961, LOC123497962, LOC123497963, LOC123497964, LOC123497965, LOC123497966, LOC123497967, LOC123497968, LOC123497969, LOC123497970, LOC123497971, LOC123497972, LOC123497973, LOC123497974, LOC123497975, LOC123497976, LOC123497977, LOC123497978, LOC123522801, LOC123522802, LOC123522803, LOC123522804, LOC123522805, LOC123522806, LOC123566730, LOC123566731, LOC123566732, LOC123566733, LOC123566734, LOC123575580, LOC123575581, LOC123575582, LOC123575583, LOC123575584, LOC123575585, LOC123575586, LOC123575587, LOC123575588, LOC123575589, LOC123575590, LOC123575592, LOC123575593, LOC123575594, LOC123575595, LOC123575596, LOC123575597, LOC123575598, LOC123575599, LOC123575600, LOC123575601, LOC123575602, LOC123575603, LOC123575604, LOC123575605, LOC126807471, LOC126807472, LOC126807473, LOC126807474, LOC126807475, LOC126807476, LOC126807477, LOC126807478, LOC126807479, LOC126807480, LOC126807481, LOC126807482, LOC126807483, LOC126807484, LOC126807485, LOC126807486, LOC126807487, LOC126807488, LOC126807489, LOC126807490, LOC126807491, LOC126807492, LOC126807493, LOC126807494, LOC126807495, LOC126807496, LOC126807497, LOC126807498, LOC126807499, LOC126807500, LOC126807501, LOC126807502, LOC126807503, LOC126807504, LOC126807505, LOC126807506, LOC126807507, LOC126807508, LOC126807509, LOC126807510, LOC126807511, LOC126807512, LOC126807513, LOC126807514, LOC126807515, LOC126807516, LOC126807517, LOC126807518, LOC126807519, LOC126807520, LOC126807521, LOC126807522, LOC126807523, LOC126807524, LOC126807525, LOC126807526, LOC126807527, LOC126807528, LOC126807529, LOC126807530, LOC126807531, LOC126807532, LOC126807533, LOC126807534, LOC126807535, LOC126807536, LOC126807537, LOC126807538, LOC126807539, LOC126807540, LOC126807541, LOC126807542, LOC126807543, LOC126807544, LOC126807545, LOC126807546, LOC126807547, LOC126807548, LOC126807549, LOC126807550, LOC126807551, LOC126807552, LOC126807553, LOC126807554, LOC126807555, LOC126807556, LOC126807557, LOC126807558, LOC126807559, LOC126807560, LOC126807561, LOC126807562, LOC126807563, LOC126807564, LOC126807565, LOC126807566, LOC127814297, LOC128772274, LOC285638, LOX, LRRTM2, LVRN, LYRM7, MACROH2A1, MALINC1, MAN2A1, MARCHF3, MARCOL, MATR3, MCC, MEGF10, MEIKIN, MFAP3, MGC32805, MINAR2, MIR12130, MIR1244-2, MIR1289-2, MIR1294, MIR1303, MIR143, MIR145, MIR3141, MIR3655, MIR3661, MIR378A, MIR378H, MIR3936, MIR3936HG, MIR4460, MIR4461, MIR4633, MIR5197, MIR548F3, MIR5692C1, MIR5706, MIR584, MIR6499, MIR6830, MIR6831, MIR874, MRPL22, MYOT, MYOZ3, MZB1, NDFIP1, NDST1, NDST1-AS1, NDUFA2, NEUROG1, NME5, NMUR2, NR3C1, NREP, NREP-AS1, NRG2, P4HA2, P4HA2-AS1, PAIP2, PCBD2, PCDH1, PCDH12, PCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHA@, PCDHAC1, PCDHAC2, PCDHACT, PCDHB1, PCDHB1-AS1, PCDHB10, PCDHB11, PCDHB12, PCDHB13, PCDHB14, PCDHB15, PCDHB16, PCDHB2, PCDHB3, PCDHB4, PCDHB5, PCDHB6, PCDHB7, PCDHB8, PCDHB9, PCDHB@, PCDHG@, PCDHGA1, PCDHGA10, PCDHGA11, PCDHGA12, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5, PCDHGB6, PCDHGB7, PCDHGC3, PCDHGC4, PCDHGC5, PCYOX1L, PDE6A, PDGFRB, PDLIM4, PFDN1, PGGT1B, PHAX, PITX1, PITX1-AS1, PJA2, PKD2L2, PKD2L2-DT, PLAC8L1, POU4F3, PPARGC1B, PPIC, PPP2CA, PPP2R2B, PPP2R2B-IT1, PRDM6, PRDM6-AS1, PRELID2, PROB1, PRR16, PRRC1, PSD2, PSD2-AS1, PURA, RAD50, RAPGEF6, RBM22, RBM27, REEP2, REEP5, RELL2, RNF14, RPS14, SAP30L, SAP30L-AS1, SAR1B, SCGB3A2, SEC24A, SEMA6A, SEMA6A-AS1, SEMA6A-AS2, SEPTIN8, SGCD, SH3RF2, SH3TC2, SH3TC2-DT, SHROOM1, SIL1, SKP1, SLC12A2, SLC12A2-DT, SLC22A4, SLC22A5, SLC23A1, SLC25A2, SLC25A46, SLC25A48, SLC25A48-AS1, SLC26A2, SLC27A6, SLC35A4, SLC36A1, SLC36A2, SLC36A3, SLC4A9, SLC6A7, SMAD5, SMAD5-AS1, SMIM3, SMIM32, SMIM33, SNCAIP, SNHG4, SNORA13, SNORA74A, SNORA74D, SNORD63, SNORD63B, SNX2, SNX24, SOWAHA, SPARC, SPATA24, SPINK1, SPINK13, SPINK14, SPINK5, SPINK6, SPINK7, SPINK9, SPOCK1, SPRY4, SPRY4-AS1, SPRY4-IT1, SRA1, SRFBP1, SRP19, STARD4, STARD4-AS1, STING1, STK32A, STK32A-AS1, SYNPO, TAF7, TCERG1, TCF7, TCOF1, TEX43, TGFBI, TH2-LCR, TH2LCRR, TICAM2, TICAM2-AS1, TIFAB, TIGD6, TMCO6, TMED7, TMED7-TICAM2, TMEM232, TNFAIP8, TNIP1, TRIM36, TRPC7, TRPC7-AS1, TRPC7-AS2, TSLP, TSSK1B, TXNDC15, UBE2B, UBE2D2, UQCRQ, VDAC1, VTRNA1-1, VTRNA1-2, VTRNA1-3, VTRNA2-1, WDR36, WDR55, WNT8A, WSPAR, YIPF5, YTHDC2, ZCCHC10, ZMAT2, ZNF300, ZNF474, ZNF474-AS1, ZNF608 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr5:107644164-125113490
- GRCh38:
- Chr5:108308463-125777797
| AP3S1, APC, ARL14EPL, ATG12, CAMK4, CCDC112, CDO1, CEP120, COMMD10, CSNK1G3, DCP2, DMXL1, DMXL1-DT, DTWD2, EPB41L4A, EPB41L4A-AS1, EPB41L4A-DT, FAM170A, FBXL17, FEM1C, FER, FTMT, HSD17B4, KCNN2, LINC00992, LINC01023, LINC01170, LINC01848, LINC01957, LINC02147, LINC02148, LINC02200, LINC02201, LINC02208, LINC02214, LINC02215, LINC02216, LINC02240, LINCADL, LOC100505841, LOC101927023, LOC101927078, LOC101927190, LOC101927357, LOC101927421, LOC102467216, LOC102467217, LOC102467226, LOC110121082, LOC110121084, LOC110121173, LOC112997552, LOC112997553, LOC112997554, LOC121079956, LOC121079957, LOC121079958, LOC121079959, LOC121725213, LOC121725214, LOC121725215, LOC121725216, LOC123497949, LOC123497950, LOC123497951, LOC123497953, LOC123497954, LOC123497955, LOC123497956, LOC123497958, LOC123497959, LOC123497960, LOC123497961, LOC123497962, LOC123497963, LOC123497964, LOC126807474, LOC126807475, LOC126807476, LOC126807477, LOC126807478, LOC126807479, LOC126807480, LOC126807481, LOC126807482, LOC126807483, LOC126807484, LOC126807485, LOC126807486, LOC126807487, LOC126807488, LOC126807489, LOC126807490, LOC126807491, LOC126807492, LOC126807493, LOC126807494, LOC126807495, LOC285638, LOX, LVRN, MAN2A1, MCC, MGC32805, MIR12130, MIR1244-2, MIR548F3, MIR5706, NREP, NREP-AS1, PGGT1B, PJA2, PPIC, PRDM6, PRDM6-AS1, PRR16, REEP5, SEMA6A, SEMA6A-AS1, SEMA6A-AS2, SLC25A46, SNCAIP, SNORA13, SNX2, SNX24, SRFBP1, SRP19, STARD4, STARD4-AS1, TICAM2, TICAM2-AS1, TMED7, TMED7-TICAM2, TMEM232, TNFAIP8, TRIM36, TSLP, TSSK1B, WDR36, YTHDC2, ZNF474, ZNF474-AS1, ZNF608 | | See cases | Pathogenic (Oct 15, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr5:110023143-129439531
- GRCh38:
- Chr5:110687442-130103838
| ADAMTS19, ADAMTS19-AS1, ALDH7A1, AP3S1, CCDC192, APC, ARL14EPL, ATG12, C5orf63, CAMK4, CCDC112, CDO1, CEP120, CHSY3, COMMD10, CSNK1G3, CTXN3, DCP2, DMXL1, DMXL1-DT, DTWD2, EPB41L4A, EPB41L4A-AS1, EPB41L4A-DT, FAM170A, FBN2, FEM1C, FTMT, GRAMD2B, HSD17B4, ISOC1, KCNN2, LINC00992, LINC01170, LINC01957, LINC02039, LINC02147, LINC02148, LINC02200, LINC02201, LINC02208, LINC02214, LINC02215, LINC02216, LINC02240, LINCADL, LMNB1, LMNB1-DT, LOC100505841, LOC101927023, LOC101927078, LOC101927190, LOC101927357, LOC101927421, LOC101927488, LOC102467216, LOC102467217, LOC102467226, LOC110121082, LOC110121084, LOC110121173, LOC110121303, LOC112997553, LOC112997554, LOC112997555, LOC112997556, LOC121079956, LOC121079957, LOC121079958, LOC121079959, LOC121725214, LOC121725215, LOC121725216, LOC123497953, LOC123497954, LOC123497955, LOC123497956, LOC123497958, LOC123497959, LOC123497960, LOC123497961, LOC123497962, LOC123497963, LOC123497964, LOC123497965, LOC126807474, LOC126807475, LOC126807476, LOC126807477, LOC126807478, LOC126807479, LOC126807480, LOC126807481, LOC126807482, LOC126807483, LOC126807484, LOC126807485, LOC126807486, LOC126807487, LOC126807488, LOC126807489, LOC126807490, LOC126807491, LOC126807492, LOC126807493, LOC126807494, LOC126807495, LOC126807496, LOC126807497, LOC126807498, LOC126807499, LOC126807500, LOC126807501, LOC126807502, LOX, LVRN, MARCHF3, MCC, MEGF10, MGC32805, MINAR2, MIR12130, MIR1244-2, MIR4460, MIR4633, MIR5706, NREP, NREP-AS1, PGGT1B, PHAX, PPIC, PRDM6, PRDM6-AS1, PRR16, PRRC1, REEP5, SEMA6A, SEMA6A-AS1, SEMA6A-AS2, SLC12A2, SLC12A2-DT, SLC25A46, SLC27A6, SNCAIP, SNORA13, SNX2, SNX24, SRFBP1, SRP19, STARD4, STARD4-AS1, TEX43, TICAM2, TICAM2-AS1, TMED7, TMED7-TICAM2, TMEM232, TNFAIP8, TRIM36, TSLP, TSSK1B, WDR36, YTHDC2, ZNF474, ZNF474-AS1, ZNF608 | | See cases | Pathogenic (Aug 20, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr5:110798714-126528730
- GRCh38:
- Chr5:111463016-127193038
| ALDH7A1, AP3S1, APC, ARL14EPL, ATG12, C5orf63, CAMK4, CCDC112, CDO1, CEP120, COMMD10, CSNK1G3, DCP2, DMXL1, DMXL1-DT, DTWD2, EPB41L4A, EPB41L4A-AS1, EPB41L4A-DT, FAM170A, FEM1C, FTMT, GRAMD2B, HSD17B4, KCNN2, LINC00992, LINC01170, LINC01957, LINC02039, LINC02147, LINC02148, LINC02200, LINC02201, LINC02208, LINC02214, LINC02215, LINC02216, LINC02240, LINCADL, LMNB1, LMNB1-DT, LOC100505841, LOC101927023, LOC101927078, LOC101927190, LOC101927357, LOC101927421, LOC101927488, LOC102467216, LOC102467217, LOC102467226, LOC110121082, LOC110121084, LOC110121173, LOC110121303, LOC112997553, LOC112997554, LOC112997555, LOC112997556, LOC121079956, LOC121079957, LOC121079958, LOC121079959, LOC121725214, LOC121725215, LOC121725216, LOC123497953, LOC123497954, LOC123497955, LOC123497956, LOC123497958, LOC123497959, LOC123497960, LOC123497961, LOC123497962, LOC123497963, LOC123497964, LOC126807474, LOC126807475, LOC126807476, LOC126807477, LOC126807478, LOC126807479, LOC126807480, LOC126807481, LOC126807482, LOC126807483, LOC126807484, LOC126807485, LOC126807486, LOC126807487, LOC126807488, LOC126807489, LOC126807490, LOC126807491, LOC126807492, LOC126807493, LOC126807494, LOC126807495, LOC126807496, LOC126807497, LOC126807498, LOX, LVRN, MARCHF3, MCC, MGC32805, MIR12130, MIR1244-2, MIR5706, NREP, NREP-AS1, PGGT1B, PHAX, PPIC, PRDM6, PRDM6-AS1, PRR16, REEP5, SEMA6A, SEMA6A-AS1, SEMA6A-AS2, SNCAIP, SNORA13, SNX2, SNX24, SRFBP1, SRP19, STARD4, STARD4-AS1, TEX43, TICAM2, TICAM2-AS1, TMED7, TMED7-TICAM2, TNFAIP8, TRIM36, TSSK1B, YTHDC2, ZNF474, ZNF474-AS1, ZNF608 | | See cases | Pathogenic (Jan 14, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr5:114043258-125843436
- GRCh38:
- Chr5:114707561-126507744
| AP3S1, ARL14EPL, ATG12, CCDC112, CDO1, CEP120, COMMD10, CSNK1G3, DMXL1, DMXL1-DT, DTWD2, FAM170A, FEM1C, FTMT, GRAMD2B, HSD17B4, LINC00992, LINC01170, LINC02039, LINC02147, LINC02148, LINC02201, LINC02208, LINC02214, LINC02215, LINC02216, LINC02240, LINCADL, LOC100505841, LOC101927078, LOC101927190, LOC101927357, LOC101927421, LOC101927488, LOC102467217, LOC102467226, LOC110121082, LOC110121084, LOC110121173, LOC110121303, LOC112997554, LOC121079958, LOC121079959, LOC121725215, LOC121725216, LOC123497955, LOC123497956, LOC123497958, LOC123497959, LOC123497960, LOC123497961, LOC123497962, LOC123497963, LOC123497964, LOC126807481, LOC126807482, LOC126807483, LOC126807484, LOC126807485, LOC126807486, LOC126807487, LOC126807488, LOC126807489, LOC126807490, LOC126807491, LOC126807492, LOC126807493, LOC126807494, LOC126807495, LOC126807496, LOC126807497, LOC126807498, LOX, LVRN, MGC32805, MIR12130, MIR1244-2, MIR5706, PGGT1B, PPIC, PRDM6, PRDM6-AS1, PRR16, SEMA6A, SEMA6A-AS1, SEMA6A-AS2, SNCAIP, SNX2, SNX24, SRFBP1, TICAM2, TICAM2-AS1, TMED7, TMED7-TICAM2, TNFAIP8, TRIM36, ZNF474, ZNF474-AS1, ZNF608 | | See cases | Pathogenic (Dec 13, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr5:116012818-132021855
- GRCh38:
- Chr5:116677122-132686163
| ACSL6, ACSL6-AS1, ADAMTS19, ADAMTS19-AS1, ALDH7A1, C5orf63, CCDC192, CDC42SE2, CEP120, CHSY3, CSF2, CSNK1G3, CTXN3, DMXL1, DMXL1-DT, DTWD2, FAM170A, FBN2, FNIP1, FTMT, GRAMD2B, HINT1, HSD17B4, IL13, IL3, IL4, IL5, IRF1, IRF1-AS1, ISOC1, LINC00992, LINC01170, LINC02039, LINC02147, LINC02148, LINC02201, LINC02208, LINC02214, LINC02215, LINC02216, LINC02240, LINC02863, LMNB1, LMNB1-DT, LOC100505841, LOC101927357, LOC101927421, LOC101927488, LOC102467226, LOC105379176, LOC107198087, LOC108281143, LOC108449898, LOC110121082, LOC110121084, LOC110121107, LOC110121173, LOC110121303, LOC112997555, LOC112997556, LOC112997557, LOC112997558, LOC121079959, LOC121079960, LOC121079961, LOC123497958, LOC123497959, LOC123497960, LOC123497961, LOC123497962, LOC123497963, LOC123497964, LOC123497965, LOC123497966, LOC123497967, LOC123497968, LOC126807487, LOC126807488, LOC126807489, LOC126807490, LOC126807491, LOC126807492, LOC126807493, LOC126807494, LOC126807495, LOC126807496, LOC126807497, LOC126807498, LOC126807499, LOC126807500, LOC126807501, LOC126807502, LOC126807503, LOC126807504, LOC126807505, LOC126807506, LOC126807507, LOC126807508, LOX, LYRM7, MARCHF3, MEGF10, MEIKIN, MGC32805, MINAR2, MIR1244-2, MIR3936, MIR3936HG, MIR4460, MIR4633, MIR5706, MIR6830, P4HA2, P4HA2-AS1, PDLIM4, PHAX, PPIC, PRDM6, PRDM6-AS1, PRR16, PRRC1, RAD50, RAPGEF6, SLC12A2, SLC12A2-DT, SLC22A4, SLC22A5, SLC27A6, SNCAIP, SNX2, SNX24, SRFBP1, TEX43, TH2-LCR, TH2LCRR, TNFAIP8, ZNF474, ZNF474-AS1, ZNF608 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr5:120031370-123861065
- GRCh38:
- Chr5:120695675-124525372
| CEP120, CSNK1G3, FTMT, LINC01170, LINC02201, LOC100505841, LOC101927357, LOC102467226, LOC121079959, LOC123497961, LOC123497962, LOC126807490, LOC126807491, LOC126807492, LOC126807493, LOC126807494, LOC126807495, LOX, MGC32805, PPIC, PRDM6, PRDM6-AS1, PRR16, SNCAIP, SNX2, SNX24, SRFBP1, ZNF474, ZNF474-AS1 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr5:120075325-126159676
- GRCh38:
- Chr5:120739630-126823984
| ALDH7A1, CEP120, CSNK1G3, FTMT, GRAMD2B, LINC01170, LINC02039, LINC02201, LINC02240, LOC110121082, LMNB1, LMNB1-DT, LOC100505841, LOC101927357, LOC101927421, LOC101927488, LOC102467226, LOC110121084, LOC110121173, LOC110121303, LOC112997555, LOC121079959, LOC123497961, LOC123497962, LOC123497963, LOC123497964, LOC126807490, LOC126807491, LOC126807492, LOC126807493, LOC126807494, LOC126807495, LOC126807496, LOC126807497, LOC126807498, LOX, MGC32805, PHAX, PPIC, PRDM6, PRDM6-AS1, PRR16, SNCAIP, SNX2, SNX24, SRFBP1, TEX43, ZNF474, ZNF474-AS1, ZNF608 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr5:121814963-126168860
- GRCh38:
- Chr5:122479268-126833168
| ALDH7A1, CEP120, CSNK1G3, GRAMD2B, LINC01170, LINC02039, LINC02201, LINC02240, LMNB1, LMNB1-DT, LOC101927357, LOC101927421, LOC101927488, LOC110121082, LOC110121084, LOC110121173, LOC110121303, LOC112997555, LOC123497962, LOC123497963, LOC123497964, LOC126807494, LOC126807495, LOC126807496, LOC126807497, LOC126807498, PHAX, PPIC, PRDM6, PRDM6-AS1, SNX2, SNX24, TEX43, ZNF608 | | See cases | Uncertain significance (Dec 22, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr5:122425794
- GRCh38:
- Chr5:123090099
| PRDM6-AS1, PRDM6 | H29Y | Inborn genetic diseases | Uncertain significance (Aug 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:122425821
- GRCh38:
- Chr5:123090126
| PRDM6, PRDM6-AS1 | S38G | Inborn genetic diseases | Likely benign (Jul 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:122425830
- GRCh38:
- Chr5:123090135
| PRDM6, PRDM6-AS1 | A41P | Inborn genetic diseases | Uncertain significance (Aug 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:122425834
- GRCh38:
- Chr5:123090139
| PRDM6-AS1, PRDM6 | G42D | Inborn genetic diseases | Uncertain significance (Sep 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:122425837
- GRCh38:
- Chr5:123090142
| PRDM6-AS1, PRDM6 | L43P | Inborn genetic diseases | Likely benign (Oct 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:122425866
- GRCh38:
- Chr5:123090171
| PRDM6, PRDM6-AS1 | P53T | Inborn genetic diseases | Uncertain significance (Mar 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:122425870
- GRCh38:
- Chr5:123090175
| PRDM6-AS1, PRDM6 | P54L | Inborn genetic diseases | Uncertain significance (Apr 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:122425876-122425877
- GRCh38:
- Chr5:123090181-123090182
| PRDM6, PRDM6-AS1 | P58fs | not provided | Benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr5:122425882
- GRCh38:
- Chr5:123090187
| PRDM6-AS1, PRDM6 | P58R | Inborn genetic diseases | Uncertain significance (Aug 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:122425908
- GRCh38:
- Chr5:123090213
| PRDM6-AS1, PRDM6 | D67N | Inborn genetic diseases | Uncertain significance (Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:122425924
- GRCh38:
- Chr5:123090229
| PRDM6-AS1, PRDM6 | R72L | Inborn genetic diseases | Uncertain significance (Nov 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:122425935
- GRCh38:
- Chr5:123090240
| PRDM6, PRDM6-AS1 | L76F | Inborn genetic diseases | Uncertain significance (Jul 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:122425942
- GRCh38:
- Chr5:123090247
| PRDM6-AS1, PRDM6 | S78C | Patent ductus arteriosus 3 | Uncertain significance (Jul 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:122425950
- GRCh38:
- Chr5:123090255
| PRDM6, PRDM6-AS1 | S81T | Inborn genetic diseases | Uncertain significance (Aug 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:122425971-122425972
- GRCh38:
- Chr5:123090276-123090277
| PRDM6, PRDM6-AS1 | | not provided | Benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr5:122426058
- GRCh38:
- Chr5:123090363
| PRDM6 | P117S | Inborn genetic diseases | Uncertain significance (Jun 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:122426127
- GRCh38:
- Chr5:123090432
| PRDM6 | G140R | Inborn genetic diseases | Uncertain significance (Apr 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:122426167
- GRCh38:
- Chr5:123090472
| PRDM6 | G153A | Inborn genetic diseases | Uncertain significance (Nov 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:122426168
- GRCh38:
- Chr5:123090473
| PRDM6 | | not provided | Likely benign (Jul 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:122426181
- GRCh38:
- Chr5:123090486
| PRDM6 | G158R | Inborn genetic diseases | Uncertain significance (Apr 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:122426286
- GRCh38:
- Chr5:123090591
| PRDM6 | S193G | Inborn genetic diseases | Uncertain significance (Oct 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:122435456
- GRCh38:
- Chr5:123099761
| PRDM6 | P234S | Inborn genetic diseases | Uncertain significance (Dec 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:122435497
- GRCh38:
- Chr5:123099802
| PRDM6 | E247D | not provided | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr5:122435544
- GRCh38:
- Chr5:123099849
| PRDM6 | C263S | Patent ductus arteriosus 3 | Pathogenic (Jul 20, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr5:122491603
- GRCh38:
- Chr5:123155909
| PRDM6 | Q309R | Inborn genetic diseases | Uncertain significance (Oct 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:122491671
- GRCh38:
- Chr5:123155977
| PRDM6 | C332R | Inborn genetic diseases | Uncertain significance (May 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:122495210
- GRCh38:
- Chr5:123159516
| PRDM6 | S344L | Heart, malformation of | Uncertain significance (Jul 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr5:122495225
- GRCh38:
- Chr5:123159531
| PRDM6 | R349Q | Inborn genetic diseases | Uncertain significance (Jul 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:122506537
- GRCh38:
- Chr5:123170843
| PRDM6 | A411T | Inborn genetic diseases | Uncertain significance (Aug 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:122506621
- GRCh38:
- Chr5:123170927
| PRDM6 | I439V | Inborn genetic diseases | Uncertain significance (Dec 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:122506691
- GRCh38:
- Chr5:123170997
| PRDM6 | Q462R | Patent ductus arteriosus 3 | Pathogenic (Jul 20, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr5:122515853
- GRCh38:
- Chr5:123180159
| PRDM6 | | not provided | Likely benign (Mar 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:122515986
- GRCh38:
- Chr5:123180292
| PRDM6 | I548V | Inborn genetic diseases | Uncertain significance (Jul 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:122515990
- GRCh38:
- Chr5:123180296
| PRDM6 | R549Q | Patent ductus arteriosus 3 | Pathogenic (Jul 20, 2016) | no assertion criteria provided |
| - GRCh37:
- Chr5:122522870
- GRCh38:
- Chr5:123187176
| PRDM6 | S588T | Inborn genetic diseases | Uncertain significance (Aug 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:122522888
- GRCh38:
- Chr5:123187194
| PRDM6 | V594G | Patent ductus arteriosus 3 | Uncertain significance (May 7, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:112557391-128106299
| ALDH7A1, AP3S1, ARL14EPL, ATG12, C5orf63, CCDC112, CDO1, CEP120, COMMD10, CSNK1G3, CTXN3, DMXL1, DTWD2, FAM170A, FBN2, FEM1C, FTMT, GRAMD2B, HSD17B4, KCNN2, LMNB1, LOX, LVRN, MARCHF3, MCC, MEGF10, PGGT1B, PHAX, PPIC, PRDM6, PRR16, PRRC1, SEMA6A, SLC12A2, SNCAIP, SNX2, SNX24, SRFBP1, TEX43, TICAM2, TMED7, TMED7-TICAM2, TNFAIP8, TRIM36, TSSK1B, YTHDC2, ZNF474, ZNF608 | | not provided | Pathogenic (Nov 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:100607918-125900735
| CAMK4, CCDC112, CDO1, DCP2, DMXL1, FTMT, GIN1, GRAMD2B, HSD17B4, KCNN2, LOX, DTWD2, EFNA5, EPB41L4A, FAM170A, FBXL17, FEM1C, FER, CEP120, COMMD10, CSNK1G3, ALDH7A1, AP3S1, APC, ARL14EPL, ATG12, LVRN, MACIR, MAN2A1, MCC, NREP, NUDT12, PAM, PGGT1B, PJA2, PPIC, PPIP5K2, PRDM6, PRR16, REEP5, SEMA6A, SLC25A46, SLCO4C1, SLCO6A1, SNCAIP, SNX2, SNX24, SRFBP1, SRP19, STARD4, TICAM2, TMED7, TMED7-TICAM2, TMEM232, TNFAIP8, TRIM36, TSLP, TSSK1B, WDR36, YTHDC2, ZNF474, ZNF608 | | not specified | Pathogenic (Mar 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:122143334-123430731
| CEP120, CSNK1G3, SNX2, PRDM6, SNX24, PPIC | | not provided | Uncertain significance (Jun 6, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr5:89949118-129317455
| ADAMTS19, ADGRV1, ALDH7A1, AP3S1, APC, ARL14EPL, ARRDC3, ARSK, ATG12, C5orf63, CAMK4, CAST, CCDC112, CDO1, CEP120, CHD1, CHSY3, COMMD10, CSNK1G3, CTXN3, DCP2, DMXL1, DTWD2, EFNA5, ELL2, EPB41L4A, ERAP1, ERAP2, FAM170A, FAM172A, FAM174A, FAM81B, FBN2, FBXL17, FEM1C, FER, FTMT, GIN1, GLRX, GPR150, GRAMD2B, HSD17B4, ISOC1, KCNN2, KIAA0825, LIX1, LMNB1, LNPEP, LOX, LUCAT1, LVRN, MACIR, MAN2A1, MARCHF3, MCC, MCTP1, MEGF10, MINAR2, NR2F1, NREP, NUDT12, PAM, PCSK1, PGGT1B, PHAX, PJA2, POU5F2, PPIC, PPIP5K2, PRDM6, PRR16, PRRC1, REEP5, RFESD, RGMB, RHOBTB3, RIOK2, SEMA6A, SKIC3, SLC12A2, SLC25A46, SLC27A6, SLCO4C1, SLCO6A1, SLF1, SNCAIP, SNX2, SNX24, SPATA9, SRFBP1, SRP19, ST8SIA4, STARD4, TEX43, TICAM2, TMED7, TMED7-TICAM2, TMEM232, TNFAIP8, TRIM36, TSLP, TSSK1B, WDR36, YTHDC2, ZNF474, ZNF608 | | not provided | Pathogenic (May 12, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr5:122451606-122673501
| PRDM6 | | not provided | Uncertain significance (Jul 12, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr5:14685137-149511942
| ABLIM3, ACOT12, ACSL6, ACTBL2, ADAMTS12, ADAMTS19, ADAMTS6, ADGRV1, ADRB2, AFAP1L1, AFF4, AGGF1, AGXT2, ALDH7A1, AMACR, ANKDD1B, ANKH, ANKHD1, ANKHD1-EIF4EBP3, ANKRA2, ANKRD31, ANKRD34B, ANKRD55, ANXA2R, AP3B1, AP3S1, APBB3, APC, ARAP3, ARHGAP26, ARHGEF28, ARHGEF37, ARL14EPL, ARL15, ARRDC3, ARSB, ARSK, ATG10, ATG12, ATP6AP1L, BASP1, BDP1, BHMT, BHMT2, BRD8, BRIX1, BTF3, C1QTNF3, C5orf15, C5orf22, C5orf24, C5orf34, C5orf46, C5orf63, C5orf64, C6, C7, C9, CAMK4, CAMLG, CAPSL, CARD6, CARTPT, CAST, CATSPER3, CCDC112, CCDC125, CCDC152, CCL28, CCNB1, CCNH, CCNI2, CCNO, CD14, CD180, CDC20B, CDC23, CDC25C, CDC42SE2, CDH10, CDH12, CDH18, CDH6, CDH9, CDK7, CDKL3, CDKN2AIPNL, CDO1, CENPH, CENPK, CEP120, CERT1, CETN3, CHD1, CHSY3, CKMT2, CMYA5, COMMD10, COX7C, CPLANE1, CRHBP, CSF1R, CSF2, CSNK1A1, CSNK1G3, CTNNA1, CTXN3, CWC27, CXCL14, CXXC5, CYSTM1, DAB2, DCANP1, DCP2, DDX4, DDX46, DELE1, DEPDC1B, DHFR, DHX29, DIAPH1, DIMT1, DMGDH, DMXL1, DNAJC18, DNAJC21, DND1, DPYSL3, DROSHA, DTWD2, ECSCR, EDIL3, EFNA5, EGFLAM, EGFLAM-AS2, EGFLAM-AS4, EGR1, EIF4EBP3, ELL2, ELOVL7, EMB, ENC1, EPB41L4A, ERAP1, ERAP2, ERBIN, ERCC8, ESM1, ETF1, F2R, F2RL1, F2RL2, FAM13B, FAM151B, FAM169A, FAM170A, FAM172A, FAM174A, FAM53C, FAM81B, FBN2, FBXL17, FBXL7, FBXO38, FBXO4, FCHO2, FCHSD1, FEM1C, FER, FGF1, FGF10, FNIP1, FOXD1, FST, FSTL4, FTMT, FYB1, GAPT, GCNT4, GDF9, GDNF, GDNF-AS1, GFM2, GFRA3, GHR, GIN1, GLRX, GNPDA1, GOLPH3, GPBP1, GPR150, GPR151, GPX8, GRAMD2B, GRPEL2, GRXCR2, GTF2H2, GTF2H2C, GZMA, GZMK, HAPLN1, HARS1, HARS2, HBEGF, HCN1, HDAC3, HEXB, HINT1, HMGCR, HMGCS1, HMGXB3, HMHB1, HNRNPA0, HOMER1, HSD17B4, HSPA4, HSPA9, HSPB3, HTR1A, HTR4, IGIP, IK, IL13, IL17B, IL3, IL31RA, IL4, IL5, IL6ST, IL7R, IL9, IPO11, IQGAP2, IRF1, ISL1, ISOC1, ITGA1, ITGA2, JADE2, JAKMIP2, JMY, KCNN2, KCTD16, KDM3B, KIAA0825, KIF20A, KIF2A, KIF3A, KLHL3, LARS1, LEAP2, LECT2, LHFPL2, LIFR, LINC02899, LIX1, LMBRD2, LMNB1, LNPEP, LOX, LRRC70, LRRTM2, LUCAT1, LVRN, LYRM7, LYSMD3, MACIR, MACROH2A1, MAN2A1, MAP1B, MAP3K1, MARCHF11, MARCHF3, MARVELD2, MAST4, MATR3, MBLAC2, MCC, MCCC2, MCIDAS, MCTP1, MEF2C, MEGF10, MIER3, MINAR2, MIR143, MIR145, MIR378A, MIR449A, MIR449B, MIR9-2, MOCS2, MROH2B, MRPS27, MRPS30, MRPS36, MSH3, MTMR12, MTREX, MTRNR2L2, MTX3, MYO10, MYOT, MZB1, NADK2, NAIP, NCRUPAR, NDFIP1, NDUFA2, NDUFAF2, NDUFS4, NEUROG1, NIPBL, NLN, NME5, NNT, NPR3, NR2F1, NR3C1, NREP, NRG2, NSA2, NUDT12, NUP155, OCLN, OSMR, OTP, OTULIN, OXCT1, P4HA2, PAIP1, PAIP2, PAM, PARP8, PART1, PCBD2, PCDH1, PCDH12, PCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHA@, PCDHAC1, PCDHAC2, PCDHB1, PCDHB10, PCDHB11, PCDHB12, PCDHB13, PCDHB14, PCDHB15, PCDHB16, PCDHB2, PCDHB3, PCDHB4, PCDHB5, PCDHB6, PCDHB7, PCDHB8, PCDHB9, PCDHB@, PCDHGA1, PCDHGA10, PCDHGA11, PCDHGA12, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5, PCDHGB6, PCDHGB7, PCDHGC3, PCDHGC4, PCDHGC5, PCSK1, PCYOX1L, PDE4D, PDE6A, PDE8B, PDGFRB, PDLIM4, PDZD2, PELO, PFDN1, PGGT1B, PHAX, PIK3R1, PITX1, PJA2, PKD2L2, PLAC8L1, PLCXD3, PLK2, PLPP1, POC5, POLK, POLR3G, POU4F3, POU5F2, PPARGC1B, PPIC, PPIP5K2, PPP2CA, PPP2R2B, PPWD1, PRDM6, PRDM9, PRELID2, PRKAA1, PRLR, PROB1, PRR16, PRRC1, PSD2, PTCD2, PTGER4, PURA, RAB3C, RAD1, RAD17, RAD50, RAI14, RANBP3L, RAPGEF6, RASA1, RASGRF2, RBM27, REEP2, REEP5, RELL2, RETREG1, RFESD, RGMB, RGS7BP, RHOBTB3, RICTOR, RIMOC1, RIOK2, RNF14, RNF180, RPL37, RPS23, RXFP3, S100Z, SAR1B, SCAMP1, SCARNA18, SCGB3A2, SEC24A, SELENOP, SEMA6A, SEPTIN8, SERF1A, SERF1B, SERINC5, SETD9, SGTB, SH3RF2, SH3TC2, SHISAL2B, SHROOM1, SIL1, SKIC3, SKP1, SKP2, SLC12A2, SLC1A3, SLC22A4, SLC22A5, SLC23A1, SLC25A2, SLC25A46, SLC25A48, SLC26A2, SLC27A6, SLC30A5, SLC35A4, SLC38A9, SLC45A2, SLC4A9, SLCO4C1, SLCO6A1, SLF1, SMAD5, SMIM15, SMN1, SMN2, SNCAIP, SNHG4, SNX18, SNX2, SNX24, SOWAHA, SPATA24, SPATA9, SPEF2, SPINK1, SPINK13, SPINK14, SPINK5, SPINK6, SPINK7, SPINK9, SPOCK1, SPRY4, SPZ1, SRA1, SREK1, SREK1IP1, SRFBP1, SRP19, SSBP2, ST8SIA4, STARD4, STING1, STK32A, SUB1, SV2C, TAF7, TAF9, TARS1, TBCA, TCERG1, TCF7, TENT2, TEX43, TGFBI, THBS4, TICAM2, TIFAB, TIGD6, TMCO6, TMED7, TMED7-TICAM2, TMEM161B, TMEM167A, TMEM171, TMEM174, TMEM232, TMEM267, TNFAIP8, TNPO1, TRAPPC13, TRIM23, TRIM36, TRPC7, TSLP, TSSK1B, TTC23L, TTC33, TXNDC15, UBE2B, UBE2D2, UGT3A1, UGT3A2, UQCRQ, UTP15, VCAN, VDAC1, VTRNA1-1, VTRNA1-2, VTRNA1-3, VTRNA2-1, WDR36, WDR41, WDR55, WDR70, WNT8A, XRCC4, YIPF5, YTHDC2, ZBED3, ZCCHC10, ZCCHC9, ZFR, ZFYVE16, ZMAT2, ZNF131, ZNF366, ZNF474, ZNF608, ZNF622, ZSWIM6 | | Neurodevelopmental disorder | Uncertain significance (Apr 9, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr5:25328-180693344
| ABLIM3, ACOT12, ACSL6, ACTBL2, ADAM19, ADAMTS12, ADAMTS16, ADAMTS19, ADAMTS2, ADAMTS6, ADCY2, ADGRV1, ADRA1B, ADRB2, AFAP1L1, AFF4, AGGF1, AGXT2, AHRR, ALDH7A1, AMACR, ANKDD1B, ANKH, ANKHD1, ANKHD1-EIF4EBP3, ANKRA2, ANKRD31, ANKRD33B, ANKRD34B, ANKRD55, ANXA2R, ANXA6, AP3B1, AP3S1, APBB3, APC, ARAP3, ARHGAP26, ARHGEF28, ARHGEF37, ARL10, ARL14EPL, ARL15, ARRDC3, ARSB, ARSI, ARSK, ATG10, ATG12, ATOX1, ATP10B, ATP6AP1L, ATP6V0E1, ATPSCKMT, B4GALT7, BASP1, BDP1, BHMT, BHMT2, BNIP1, BOD1, BRD8, BRD9, BRIX1, BTF3, BTNL3, BTNL8, BTNL9, C1QTNF2, C1QTNF3, C5orf15, C5orf22, C5orf24, C5orf34, C5orf46, C5orf47, C5orf52, C5orf58, C5orf60, C5orf63, C5orf64, C6, C7, C9, CAMK2A, CAMK4, CAMLG, CANX, CAPSL, CARD6, CARTPT, CAST, CATSPER3, CBY3, CCDC112, CCDC125, CCDC127, CCDC152, CCDC69, CCL28, CCNB1, CCNG1, CCNH, CCNI2, CCNJL, CCNO, CCT5, CD14, CD180, CD74, CDC20B, CDC23, CDC25C, CDC42SE2, CDH10, CDH12, CDH18, CDH6, CDH9, CDHR2, CDK7, CDKL3, CDKN2AIPNL, CDO1, CDX1, CENPH, CENPK, CEP120, CEP72, CERT1, CETN3, CFAP90, CHD1, CHSY3, CKMT2, CLINT1, CLK4, CLPTM1L, CLTB, CMBL, CMYA5, CNOT6, CNOT8, COL23A1, COMMD10, COX7C, CPEB4, CPLANE1, CPLX2, CREBRF, CRHBP, CSF1R, CSF2, CSNK1A1, CSNK1G3, CTNNA1, CTNND2, CTXN3, CWC27, CXCL14, CXXC5, CYFIP2, CYSTM1, DAB2, DAP, DBN1, DCANP1, DCP2, DCTN4, DDX4, DDX41, DDX46, DELE1, DEPDC1B, DHFR, DHX29, DIAPH1, DIMT1, DMGDH, DMXL1, DNAH5, DNAJC18, DNAJC21, DND1, DOCK2, DOK3, DPYSL3, DRD1, DROSHA, DTWD2, DUSP1, EBF1, ECSCR, EDIL3, EFCAB9, EFNA5, EGFLAM, EGFLAM-AS2, EGFLAM-AS4, EGR1, EIF4E1B, SPATA9, SPDL1, SPEF2, SPINK1, SPINK13, SPINK14, SPINK5, SPINK6, SPINK7, SPINK9, SPOCK1, SPRY4, SPZ1, SQSTM1, SRA1, SRD5A1, SREK1, SREK1IP1, SRFBP1, SRP19, SSBP2, ST8SIA4, STARD4, STC2, STING1, STK10, STK32A, SUB1, SV2C, SYNPO, TAF7, TAF9, TARS1, TAS2R1, TBC1D9B, TBCA, TCERG1, TCF7, TCOF1, TENM2, TENT2, TENT4A, TERT, TEX43, TGFBI, THBS4, THG1L, THOC3, TICAM2, TIFAB, TIGD6, TIMD4, TLX3, TMCO6, TMED7, TMED7-TICAM2, TMED9, TMEM161B, TMEM167A, TMEM171, TMEM174, TMEM232, TMEM267, TNFAIP8, TNIP1, TNPO1, TPPP, TRAPPC13, TRIM23, TRIM36, TRIM41, TRIM52, TRIM7, TRIO, TRIP13, TRK-CTT2-3, TRP-TGG3-1, TRPC7, TRT-TGT6-1, TRV-AAC1-4, TRV-CAC1-2, TSLP, TSPAN17, TSSK1B, TTC1, TTC23L, TTC33, TXNDC15, UBE2B, UBE2D2, UBE2QL1, UBLCP1, UBTD2, UGT3A1, UGT3A2, UIMC1, UNC5A, UQCRQ, UTP15, VCAN, VDAC1, VTRNA1-1, VTRNA1-2, VTRNA1-3, VTRNA2-1, WDR36, WDR41, WDR55, WDR70, WNT8A, WWC1, XRCC4, YIPF5, YTHDC2, ZBED3, ZCCHC10, ZCCHC9, ZDHHC11, ZDHHC11B, ZFP2, ZFP62, ZFR, ZFYVE16, ZMAT2, ZNF131, ZNF300, ZNF346, ZNF354A, ZNF354B, ZNF354C, ZNF366, ZNF454, ZNF474, ZNF608, ZNF622, ZNF879, ZSWIM6, EIF4EBP3, ELL2, ELOVL7, EMB, ENC1, EPB41L4A, ERAP1, ERAP2, ERBIN, ERCC8, ERGIC1, ESM1, ETF1, EXOC3, EXOC3-AS1, F12, F2R, F2RL1, F2RL2, FABP6, FAF2, FAM114A2, FAM13B, FAM151B, FAM153A, FAM153B, FAM169A, FAM170A, FAM172A, FAM174A, FAM193B, FAM200C, FAM53C, FAM81B, FASTKD3, FAT2, FAXDC2, FBN2, FBXL17, FBXL7, FBXO38, FBXO4, FBXW11, FCHO2, FCHSD1, FEM1C, FER, FGF1, FGF10, FGF18, FGFR4, FLT4, FNDC9, FNIP1, FOXD1, FOXI1, FST, FSTL4, FTMT, FYB1, G3BP1, GABRA1, GABRA6, GABRB2, GABRG2, GABRP, GALNT10, GAPT, GARIN3, GCNT4, GDF9, GDNF, GDNF-AS1, GEMIN5, GFM2, GFPT2, GFRA3, GHR, GIN1, GLRA1, GLRX, GM2A, GNPDA1, GOLPH3, GPBP1, GPR150, GPR151, GPRIN1, GPX3, GPX8, GRAMD2B, GRIA1, GRK6, GRM6, GRPEL2, GRXCR2, GTF2H2, GTF2H2C, GZMA, GZMK, HAND1, HAPLN1, HARS1, HARS2, HAVCR1, HAVCR2, HBEGF, HCN1, HDAC3, HEXB, HIGD2A, HINT1, HK3, HMGCR, HMGCS1, HMGXB3, HMHB1, HMMR, HNRNPA0, HNRNPAB, HNRNPH1, HOMER1, HRH2, HSD17B4, HSPA4, HSPA9, HSPB3, HTR1A, HTR4, ICE1, IGIP, IK, IL12B, IL13, IL17B, IL3, IL31RA, IL4, IL5, IL6ST, IL7R, IL9, INSYN2B, IPO11, IQGAP2, IRF1, IRGM, IRX1, IRX2, IRX2-DT, IRX4, ISL1, ISOC1, ITGA1, ITGA2, ITK, JADE2, JAKMIP2, JMY, KCNIP1, KCNMB1, KCNN2, KCTD16, KDM3B, KIAA0825, KIAA1191, KIF20A, KIF2A, KIF3A, KIF4B, KLHL3, LARP1, LARS1, LCP2, LEAP2, LECT2, LHFPL2, LIFR, LINC01194, LINC02899, LIX1, LMAN2, LMBRD2, LMNB1, LNPEP, LOC100128059, LOC100288254, LOX, LPCAT1, LRRC14B, LRRC70, LRRTM2, LSM11, LTC4S, LUCAT1, LVRN, LYRM7, LYSMD3, MACIR, MACROH2A1, MAML1, MAN2A1, MAP1B, MAP3K1, MAPK9, MARCHF11, MARCHF3, MARCHF6, MARVELD2, MAST4, MAT2B, MATR3, MBLAC2, MCC, MCCC2, MCIDAS, MCTP1, MED10, MED7, MEF2C, MEGF10, MFAP3, MGAT1, MGAT4B, MIER3, MINAR2, MIR103A1, MIR143, MIR145, MIR146A, MIR378A, MIR449A, MIR449B, MIR9-2, MOCS2, MRNIP, MROH2B, MRPL22, MRPL36, MRPS27, MRPS30, MRPS36, MSH3, MSX2, MTMR12, MTREX, MTRNR2L2, MTRR, MTX3, MXD3, MYO10, MYOT, MYOZ3, MZB1, N4BP3, NADK2, NAIP, NCRUPAR, NDFIP1, NDST1, NDUFA2, NDUFAF2, NDUFS4, NDUFS6, NEURL1B, NEUROG1, NHP2, NIPAL4, NIPBL, NKD2, NKX2-5, NLN, NME5, NMUR2, NNT, NOP16, NPM1, NPR3, NR2F1, NR3C1, NREP, NRG2, NSA2, NSD1, NSUN2, NUDCD2, NUDT12, NUP155, OCLN, OR2V1, OR2V2, OR2Y1, OSMR, OTP, OTULIN, OTULIN-DT, OTULINL, OXCT1, P4HA2, PAIP1, PAIP2, PAM, PANK3, PARP8, PART1, PCBD2, PCDH1, PCDH12, PCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHA@, PCDHAC1, PCDHAC2, PCDHB1, PCDHB10, PCDHB11, PCDHB12, PCDHB13, PCDHB14, PCDHB15, PCDHB16, PCDHB2, PCDHB3, PCDHB4, PCDHB5, PCDHB6, PCDHB7, PCDHB8, PCDHB9, PCDHB@, PCDHGA1, PCDHGA10, PCDHGA11, PCDHGA12, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5, PCDHGB6, PCDHGB7, PCDHGC3, PCDHGC4, PCDHGC5, PCSK1, PCYOX1L, PDCD6, PDE4D, PDE6A, PDE8B, PDGFRB, PDLIM4, PDLIM7, PDZD2, PELO, PFDN1, PFN3, PGGT1B, PHAX, PHYKPL, PIK3R1, PITX1, PJA2, PKD2L2, PLAC8L1, PLCXD3, PLEKHG4B, PLK2, PLPP1, POC5, POLK, POLR3G, POU4F3, POU5F2, PPARGC1B, PPIC, PPIP5K2, PPP2CA, PPP2R2B, PPWD1, PRDM6, PRDM9, PRELID1, PRELID2, PRKAA1, PRLR, PROB1, PROP1, PRR16, PRR7, PRRC1, PSD2, PTCD2, PTGER4, PTTG1, PURA, PWWP2A, RAB24, RAB3C, RACK1, RAD1, RAD17, RAD50, RAI14, RANBP17, RANBP3L, RAPGEF6, RARS1, RASA1, RASGEF1C, RASGRF2, RBM22, RBM27, REEP2, REEP5, RELL2, RETREG1, RFESD, RGMB, RGS14, RGS7BP, RHOBTB3, RICTOR, RIMOC1, RIOK2, RMND5B, RNF130, RNF14, RNF145, RNF180, RNF44, ROPN1L, RPL26L1, RPL37, RPS14, RPS23, RUFY1, RXFP3, S100Z, SAP30L, SAR1B, SCAMP1, SCARNA18, SCGB3A1, SCGB3A2, SDHA, SEC24A, SELENOP, SEMA5A, SEMA6A, SEPTIN8, SERF1A, SERF1B, SERINC5, SETD9, SFXN1, SGCD, SGTB, SH3PXD2B, SH3RF2, SH3TC2, SHISAL2B, SHROOM1, SIL1, SIMC1, SKIC3, SKP1, SKP2, SLC12A2, SLC12A7, SLC1A3, SLC22A4, SLC22A5, SLC23A1, SLC25A2, SLC25A46, SLC25A48, SLC26A2, SLC27A6, SLC30A5, SLC34A1, SLC35A4, SLC36A1, SLC36A2, SLC36A3, SLC38A9, SLC45A2, SLC4A9, SLC6A18, SLC6A19, SLC6A3, SLC6A7, SLC9A3, SLCO4C1, SLCO6A1, SLF1, SLIT3, SLU7, SMAD5, SMIM15, SMIM23, SMIM3, SMN1, SMN2, SNCAIP, SNCB, SNHG4, SNORA74B, SNX18, SNX2, SNX24, SOWAHA, SOX30, SPARC, SPATA24 | | not provided | Pathogenic (Jan 5, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr5:13648-180905029
| SPEF2, SPINK1, SPINK13, SPINK14, SPINK5, SPINK6, SPINK7, SPINK9, SPOCK1, SPRY4, SPZ1, SQSTM1, SRA1, SRD5A1, SREK1, SREK1IP1, SRFBP1, SRP19, SSBP2, ST8SIA4, STARD4, STC2, STING1, STK10, STK32A, SUB1, SV2C, SYNPO, TAF7, TAF9, TARS1, TAS2R1, TBC1D9B, TBCA, TCERG1, TCF7, TCOF1, TENM2, TENT2, TENT4A, TERT, TEX43, TGFBI, THBS4, THG1L, THOC3, TICAM2, TIFAB, TIGD6, TIMD4, TLX3, TMCO6, TMED7, TMED7-TICAM2, TMED9, TMEM161B, TMEM167A, TMEM171, TMEM174, TMEM232, TMEM267, TNFAIP8, TNIP1, TNPO1, TPPP, TRAPPC13, TRIM23, TRIM36, TRIM41, TRIM52, TRIM7, TRIO, TRIP13, TRK-CTT2-3, TRP-TGG3-1, TRPC7, TRT-TGT6-1, TRV-AAC1-4, TRV-CAC1-2, TSLP, TSPAN17, TSSK1B, TTC1, TTC23L, TTC33, TXNDC15, UBE2B, UBE2D2, UBE2QL1, UBLCP1, UBTD2, UGT3A1, UGT3A2, UIMC1, UNC5A, UQCRQ, UTP15, VCAN, VDAC1, VTRNA1-1, VTRNA1-2, VTRNA1-3, VTRNA2-1, WDR36, WDR41, WDR55, WDR70, WNT8A, WWC1, XRCC4, YIPF5, YTHDC2, ZBED3, ZCCHC10, ZCCHC9, ZDHHC11, ZDHHC11B, ZFP2, ZFP62, ZFR, ZFYVE16, ZMAT2, ZNF131, ZNF300, ZNF346, ZNF354A, ZNF354B, ZNF354C, ZNF366, ZNF454, ZNF474, ZNF608, ZNF622, ZNF879, ZSWIM6, ABLIM3, ACOT12, ACSL6, ACTBL2, ADAM19, ADAMTS12, ADAMTS16, ADAMTS19, ADAMTS2, ADAMTS6, ADCY2, ADGRV1, ADRA1B, ADRB2, AFAP1L1, AFF4, AGGF1, AGXT2, AHRR, ALDH7A1, AMACR, ANKDD1B, ANKH, ANKHD1, ANKHD1-EIF4EBP3, ANKRA2, ANKRD31, ANKRD33B, ANKRD34B, ANKRD55, ANXA2R, ANXA6, AP3B1, AP3S1, APBB3, APC, ARAP3, ARHGAP26, ARHGEF28, ARHGEF37, ARL10, ARL14EPL, ARL15, ARRDC3, ARSB, ARSI, ARSK, ATG10, ATG12, ATOX1, ATP10B, ATP6AP1L, ATP6V0E1, ATPSCKMT, B4GALT7, BASP1, BDP1, BHMT, BHMT2, BNIP1, BOD1, BRD8, BRD9, BRIX1, BTF3, BTNL3, BTNL8, BTNL9, C1QTNF2, C1QTNF3, C5orf15, C5orf22, C5orf24, C5orf34, C5orf46, C5orf47, C5orf52, C5orf58, C5orf60, C5orf63, C5orf64, C6, C7, C9, CAMK2A, CAMK4, CAMLG, CANX, CAPSL, CARD6, CARTPT, CAST, CATSPER3, CBY3, CCDC112, CCDC125, CCDC127, CCDC152, CCDC69, CCL28, CCNB1, CCNG1, CCNH, CCNI2, CCNJL, CCNO, CCT5, CD14, CD180, CD74, CDC20B, CDC23, CDC25C, CDC42SE2, CDH10, CDH12, CDH18, CDH6, CDH9, CDHR2, CDK7, CDKL3, CDKN2AIPNL, CDO1, CDX1, CENPH, CENPK, CEP120, CEP72, CERT1, CETN3, CFAP90, CHD1, CHSY3, CKMT2, CLINT1, CLK4, CLPTM1L, CLTB, CMBL, CMYA5, CNOT6, CNOT8, COL23A1, COMMD10, COX7C, CPEB4, CPLANE1, CPLX2, CREBRF, CRHBP, CSF1R, CSF2, CSNK1A1, CSNK1G3, CTNNA1, CTNND2, CTXN3, CWC27, CXCL14, CXXC5, CYFIP2, CYSTM1, DAB2, DAP, DBN1, DCANP1, DCP2, DCTN4, DDX4, DDX41, DDX46, DELE1, DEPDC1B, DHFR, DHX29, DIAPH1, DIMT1, DMGDH, DMXL1, DNAH5, DNAJC18, DNAJC21, DND1, DOCK2, DOK3, DPYSL3, DRD1, DROSHA, DTWD2, DUSP1, EBF1, ECSCR, EDIL3, EFCAB9, EFNA5, EGFLAM, EGFLAM-AS2, EGFLAM-AS4, EGR1, EIF4E1B, EIF4EBP3, ELL2, ELOVL7, EMB, ENC1, EPB41L4A, ERAP1, ERAP2, ERBIN, ERCC8, ERGIC1, ESM1, ETF1, EXOC3, EXOC3-AS1, F12, F2R, F2RL1, F2RL2, FABP6, FAF2, FAM114A2, FAM13B, FAM151B, FAM153A, FAM153B, FAM169A, FAM170A, FAM172A, FAM174A, FAM193B, FAM200C, FAM53C, FAM81B, FASTKD3, FAT2, FAXDC2, FBN2, FBXL17, FBXL7, FBXO38, FBXO4, FBXW11, FCHO2, FCHSD1, FEM1C, FER, FGF1, FGF10, FGF18, FGFR4, FLT4, FNDC9, FNIP1, FOXD1, FOXI1, FST, FSTL4, FTMT, FYB1, G3BP1, GABRA1, GABRA6, GABRB2, GABRG2, GABRP, GALNT10, GAPT, GARIN3, GCNT4, GDF9, GDNF, GDNF-AS1, GEMIN5, GFM2, GFPT2, GFRA3, GHR, GIN1, GLRA1, GLRX, GM2A, GNPDA1, GOLPH3, GPBP1, GPR150, GPR151, GPRIN1, GPX3, GPX8, GRAMD2B, GRIA1, GRK6, GRM6, GRPEL2, GRXCR2, GTF2H2, GTF2H2C, GZMA, GZMK, HAND1, HAPLN1, HARS1, HARS2, HAVCR1, HAVCR2, HBEGF, HCN1, HDAC3, HEXB, HIGD2A, HINT1, HK3, HMGCR, HMGCS1, HMGXB3, HMHB1, HMMR, HNRNPA0, HNRNPAB, HNRNPH1, HOMER1, HRH2, HSD17B4, HSPA4, HSPA9, HSPB3, HTR1A, HTR4, ICE1, IGIP, IK, IL12B, IL13, IL17B, IL3, IL31RA, IL4, IL5, IL6ST, IL7R, IL9, INSYN2B, IPO11, IQGAP2, IRF1, IRGM, IRX1, IRX2, IRX2-DT, IRX4, ISL1, ISOC1, ITGA1, ITGA2, ITK, JADE2, JAKMIP2, JMY, KCNIP1, KCNMB1, KCNN2, KCTD16, KDM3B, KIAA0825, KIAA1191, KIF20A, KIF2A, KIF3A, KIF4B, KLHL3, LARP1, LARS1, LCP2, LEAP2, LECT2, LHFPL2, LIFR, LINC01194, LINC02899, LIX1, LMAN2, LMBRD2, LMNB1, LNPEP, LOC100128059, LOC100288254, LOX, LPCAT1, LRRC14B, LRRC70, LRRTM2, LSM11, LTC4S, LUCAT1, LVRN, LYRM7, LYSMD3, MACIR, MACROH2A1, MAML1, MAN2A1, MAP1B, MAP3K1, MAPK9, MARCHF11, MARCHF3, MARCHF6, MARVELD2, MAST4, MAT2B, MATR3, MBLAC2, MCC, MCCC2, MCIDAS, MCTP1, MED10, MED7, MEF2C, MEGF10, MFAP3, MGAT1, MGAT4B, MIER3, MINAR2, MIR103A1, MIR143, MIR145, MIR146A, MIR378A, MIR449A, MIR449B, MIR9-2, MOCS2, MRNIP, MROH2B, MRPL22, MRPL36, MRPS27, MRPS30, MRPS36, MSH3, MSX2, MTMR12, MTREX, MTRNR2L2, MTRR, MTX3, MXD3, MYO10, MYOT, MYOZ3, MZB1, N4BP3, NADK2, NAIP, NCRUPAR, NDFIP1, NDST1, NDUFA2, NDUFAF2, NDUFS4, NDUFS6, NEURL1B, NEUROG1, NHP2, NIPAL4, NIPBL, NKD2, NKX2-5, NLN, NME5, NMUR2, NNT, NOP16, NPM1, NPR3, NR2F1, NR3C1, NREP, NRG2, NSA2, NSD1, NSUN2, NUDCD2, NUDT12, NUP155, OCLN, OR2V1, OR2V2, OR2Y1, OR4F3, OSMR, OTP, OTULIN, OTULIN-DT, OTULINL, OXCT1, P4HA2, PAIP1, PAIP2, PAM, PANK3, PARP8, PART1, PCBD2, PCDH1, PCDH12, PCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHA@, PCDHAC1, PCDHAC2, PCDHB1, PCDHB10, PCDHB11, PCDHB12, PCDHB13, PCDHB14, PCDHB15, PCDHB16, PCDHB2, PCDHB3, PCDHB4, PCDHB5, PCDHB6, PCDHB7, PCDHB8, PCDHB9, PCDHB@, PCDHGA1, PCDHGA10, PCDHGA11, PCDHGA12, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5, PCDHGB6, PCDHGB7, PCDHGC3, PCDHGC4, PCDHGC5, PCSK1, PCYOX1L, PDCD6, PDE4D, PDE6A, PDE8B, PDGFRB, PDLIM4, PDLIM7, PDZD2, PELO, PFDN1, PFN3, PGGT1B, PHAX, PHYKPL, PIK3R1, PITX1, PJA2, PKD2L2, PLAC8L1, PLCXD3, PLEKHG4B, PLK2, PLPP1, POC5, POLK, POLR3G, POU4F3, POU5F2, PPARGC1B, PPIC, PPIP5K2, PPP2CA, PPP2R2B, PPWD1, PRDM6, PRDM9, PRELID1, PRELID2, PRKAA1, PRLR, PROB1, PROP1, PRR16, PRR7, PRRC1, PSD2, PTCD2, PTGER4, PTTG1, PURA, PWWP2A, RAB24, RAB3C, RACK1, RAD1, RAD17, RAD50, RAI14, RANBP17, RANBP3L, RAPGEF6, RARS1, RASA1, RASGEF1C, RASGRF2, RBM22, RBM27, REEP2, REEP5, RELL2, RETREG1, RFESD, RGMB, RGS14, RGS7BP, RHOBTB3, RICTOR, RIMOC1, RIOK2, RMND5B, RNF130, RNF14, RNF145, RNF180, RNF44, ROPN1L, RPL26L1, RPL37, RPS14, RPS23, RUFY1, RXFP3, S100Z, SAP30L, SAR1B, SCAMP1, SCARNA18, SCGB3A1, SCGB3A2, SDHA, SEC24A, SELENOP, SEMA5A, SEMA6A, SEPTIN8, SERF1A, SERF1B, SERINC5, SETD9, SFXN1, SGCD, SGTB, SH3PXD2B, SH3RF2, SH3TC2, SHISAL2B, SHROOM1, SIL1, SIMC1, SKIC3, SKP1, SKP2, SLC12A2, SLC12A7, SLC1A3, SLC22A4, SLC22A5, SLC23A1, SLC25A2, SLC25A46, SLC25A48, SLC26A2, SLC27A6, SLC30A5, SLC34A1, SLC35A4, SLC36A1, SLC36A2, SLC36A3, SLC38A9, SLC45A2, SLC4A9, SLC6A18, SLC6A19, SLC6A3, SLC6A7, SLC9A3, SLCO4C1, SLCO6A1, SLF1, SLIT3, SLU7, SMAD5, SMIM15, SMIM23, SMIM3, SMN1, SMN2, SNCAIP, SNCB, SNHG4, SNORA74B, SNX18, SNX2, SNX24, SOWAHA, SOX30, SPARC, SPATA24, SPATA9, SPDL1 | | not provided | Pathogenic (Jan 1, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr5:86400000-154000000
| ADAMTS19, ADGRV1, CDC42SE2, FAM13B, HMGXB3, HMHB1, LUCAT1, LVRN, LYRM7, PCDHA12, PCDHB@, PRELID2, PROB1, SLC35A4, SLC36A1, STING1, TRPC7, TSLP, TSSK1B, TXNDC15, UBE2B, UBE2D2, PRR16, SLC36A2, SMAD5, SMIM3, SNCAIP, SNHG4, SNX2, SNX24, ADRB2, SLC6A7, CDKL3, CDKN2AIPNL, SLCO4C1, SLCO6A1, FAM170A, FAM172A, SLF1, HNRNPA0, HSD17B4, LYSMD3, MACIR, MACROH2A1, STK32A, SYNPO, PCDHA13, TCF7, PCDHGA1, PCDHGA10, AFAP1L1, AFF4, CDO1, FAM174A, FAM53C, HSPA4, HSPA9, MAN2A1, PCDHA2, PCDHGA11, PRRC1, PSD2, SLC36A3, SLC4A9, RNF14, RPS14, RBM27, REEP2, REEP5, RELL2, RFESD, RGMB, RHOBTB3, PCDHGA5, SAP30L, SAR1B, SCGB3A2, RIOK2, TAF7, TCERG1, TNFAIP8, TNIP1, TRIM36, PCDHGA12, PCDHGA2, PCDHA@, PCDHAC1, PCDHAC2, PCDHB1, PCDHA7, PCDHA8, PCDHGA6, PCDHGA7, PCDHGB5, PCDHGB6, PCDHGB7, PCDHGC3, PCDHGC4, PCDHGC5, PCSK1, MIR378A, MIR9-2, MYOT, MYOZ3, MZB1, MARCHF3, MATR3, NDFIP1, NDST1, MBLAC2, PCYOX1L, PDE6A, PCDHGA3, PCDHGA4, PCDHA4, PCDHA5, IK, IL17B, IL5, IL9, IRF1, IL13, IL3, IL4, HTR4, IGIP, IRGM, PCDHA6, PCDHA3, PCDHA9, FBXO38, FCHSD1, FEM1C, FER, FGF1, FNIP1, FSTL4, DCTN4, FTMT, G3BP1, GALNT10, GDF9, GFRA3, FBN2, FBXL17, CDX1, CEP120, FAT2, MCC, MCTP1, FAM81B, CETN3, CHD1, CHSY3, COMMD10, CSF1R, ATG12, ATOX1, AP3S1, APBB3, ARRDC3, ARSI, ARSK, CSF2, CSNK1A1, DCP2, ALDH7A1, CSNK1G3, ANKHD1, ANKHD1-EIF4EBP3, ANXA6, ABLIM3, ACSL6, APC, ARAP3, ARHGAP26, ARHGEF37, ARL14EPL, BRD8, C5orf15, C5orf24, C5orf46, C5orf63, CAMK2A, CAMK4, CAMLG, CAST, CATSPER3, CCDC112, CCDC69, CCNH, CCNI2, CD14, CD74, CDC23, CDC25C, CTNNA1, CTXN3, CXCL14, CXXC5, CYSTM1, DCANP1, DDX46, DELE1, DIAPH1, DMXL1, DNAJC18, DND1, DPYSL3, DTWD2, ECSCR, EFNA5, EGR1, EIF4EBP3, ELL2, EPB41L4A, ERAP1, ERAP2, ETF1, FAM114A2, GIN1, GLRA1, GLRX, GM2A, GNPDA1, GPR150, GPR151, GPX3, GRAMD2B, GRIA1, GRPEL2, GRXCR2, HAND1, HARS1, HARS2, HBEGF, HDAC3, HINT1, ISOC1, JADE2, JAKMIP2, KCNN2, KCTD16, KDM3B, KIAA0825, KIF20A, KIF3A, KLHL3, LARS1, LEAP2, LECT2, LIX1, LMNB1, LNPEP, LOX, LRRTM2, MEF2C, MEGF10, MFAP3, MINAR2, MIR143, MIR145, NDUFA2, NEUROG1, NME5, NMUR2, NR2F1, NR3C1, NREP, NRG2, NUDT12, P4HA2, PAIP2, PAM, PCBD2, PCDH1, PCDH12, PCDHA1, PCDHA10, PCDHA11, PCDHB10, PCDHB11, PCDHB12, PCDHB13, PCDHB14, PCDHB15, PCDHB16, PCDHB2, PCDHB3, PCDHB4, PCDHB5, PCDHB6, PCDHB7, PCDHB8, PCDHB9, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PDGFRB, PDLIM4, PFDN1, PGGT1B, PHAX, PITX1, PJA2, PKD2L2, PLAC8L1, POLR3G, POU4F3, POU5F2, PPARGC1B, PPIC, PPIP5K2, PPP2CA, PPP2R2B, PRDM6, PURA, RAD50, RAPGEF6, RASA1, RBM22, SEC24A, SEMA6A, SEPTIN8, SH3RF2, SH3TC2, SHROOM1, SIL1, SKIC3, SKP1, SLC12A2, SLC22A4, SLC22A5, SLC23A1, SLC25A2, SLC25A46, SLC25A48, SLC26A2, SLC27A6, SOWAHA, SPARC, SPATA24, SPATA9, SPINK1, SPINK13, SPINK14, SPINK5, SPINK6, SPINK7, SPINK9, SPOCK1, SPRY4, SRA1, SRFBP1, SRP19, ST8SIA4, STARD4, TCOF1, TEX43, TGFBI, TICAM2, TIFAB, TIGD6, TMCO6, TMED7, TMED7-TICAM2, TMEM161B, TMEM232, UQCRQ, VDAC1, VTRNA1-1, VTRNA1-2, VTRNA1-3, VTRNA2-1, WDR36, WDR55, WNT8A, YIPF5, YTHDC2, ZCCHC10, ZMAT2, ZNF300, ZNF474, ZNF608 | | Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1 | Pathogenic (Dec 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:121108870-122778090
| CEP120, FTMT, LOX, PPIC, PRDM6, SNCAIP, SNX2, SNX24, SRFBP1, ZNF474 | | See cases | Uncertain significance (Dec 22, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr5:17628741-176575720
| ZCCHC9, YTHDC2, ZBED3, ZCCHC10, ZFR, ZFYVE16, ZMAT2, ZNF131, ZNF300, ZNF346, ZNF366, ZNF474, ZNF608, ZSWIM6, ABLIM3, ACOT12, ACSL6, ACTBL2, ADAM19, ADAMTS12, ADAMTS19, ADAMTS6, ADGRV1, ADRA1B, ADRB2, AFAP1L1, AFF4, AGGF1, AGXT2, ALDH7A1, AMACR, ANKDD1B, ANKHD1, ANKHD1-EIF4EBP3, ANKRA2, ANKRD31, ANKRD34B, ANKRD55, ANXA2R, ANXA6, AP3B1, AP3S1, APBB3, APC, ARAP3, ARHGAP26, ARHGEF28, ARHGEF37, ARL10, ARL14EPL, ARL15, ARRDC3, ARSB, ARSI, ARSK, ATG10, ATG12, ATOX1, ATP10B, ATP6AP1L, ATP6V0E1, BDP1, BHMT, BHMT2, BNIP1, BOD1, BRD8, BRIX1, BTF3, C1QTNF2, C1QTNF3, C5orf15, C5orf22, C5orf24, C5orf34, C5orf46, C5orf47, C5orf52, C5orf58, C5orf63, C5orf64, C6, C7, C9, CAMK2A, CAMK4, CAMLG, CAPSL, CARD6, CARTPT, CAST, CATSPER3, CCDC112, CCDC125, CCDC152, CCDC69, CCL28, CCNB1, CCNG1, CCNH, CCNI2, CCNJL, CCNO, CD14, CD180, CD74, CDC20B, CDC23, CDC25C, CDC42SE2, CDH10, CDH12, CDH18, CDH6, CDH9, CDHR2, CDK7, CDKL3, CDKN2AIPNL, CDO1, CDX1, CENPH, CENPK, CEP120, CERT1, CETN3, CHD1, CHSY3, CKMT2, CLINT1, CLTB, CMYA5, CNOT8, COMMD10, COX7C, CPEB4, CPLANE1, CPLX2, CREBRF, CRHBP, CSF1R, CSF2, CSNK1A1, CSNK1G3, CTNNA1, CTXN3, CWC27, CXCL14, CXXC5, CYFIP2, CYSTM1, DAB2, DCANP1, DCP2, DCTN4, DDX4, DDX46, DELE1, DEPDC1B, DHFR, DHX29, DIAPH1, DIMT1, DMGDH, DMXL1, DNAJC18, DNAJC21, DND1, DOCK2, DPYSL3, DRD1, DROSHA, DTWD2, DUSP1, EBF1, ECSCR, EDIL3, EFCAB9, EFNA5, EGFLAM, EGFLAM-AS2, EGFLAM-AS4, EGR1, EIF4E1B, EIF4EBP3, ELL2, ELOVL7, EMB, ENC1, EPB41L4A, ERAP1, ERAP2, ERBIN, ERCC8, ERGIC1, ESM1, ETF1, F2R, F2RL1, F2RL2, FABP6, FAF2, FAM114A2, FAM13B, FAM151B, FAM153B, FAM169A, FAM170A, FAM172A, FAM174A, FAM200C, FAM53C, FAM81B, FAT2, FAXDC2, FBN2, FBXL17, FBXO38, FBXO4, FBXW11, FCHO2, FCHSD1, FEM1C, FER, FGF1, FGF10, FGF18, FGFR4, FNDC9, FNIP1, FOXD1, FOXI1, FST, FSTL4, FTMT, FYB1, G3BP1, GABRA1, GABRA6, GABRB2, GABRG2, GABRP, GALNT10, GAPT, GARIN3, GCNT4, GDF9, GDNF, GDNF-AS1, GEMIN5, GFM2, GFRA3, GHR, GIN1, GLRA1, GLRX, GM2A, GNPDA1, GOLPH3, GPBP1, GPR150, GPR151, GPRIN1, GPX3, GPX8, GRAMD2B, GRIA1, GRPEL2, GRXCR2, GTF2H2, GTF2H2C, GZMA, GZMK, HAND1, HAPLN1, HARS1, HARS2, HAVCR1, HAVCR2, HBEGF, HCN1, HDAC3, HEXB, HIGD2A, HINT1, HK3, HMGCR, HMGCS1, HMGXB3, HMHB1, HMMR, HNRNPA0, HOMER1, HRH2, HSD17B4, HSPA4, HSPA9, HSPB3, HTR1A, HTR4, IGIP, IK, IL12B, IL13, IL17B, IL3, IL31RA, IL4, IL5, IL6ST, IL7R, IL9, INSYN2B, IPO11, IQGAP2, IRF1, IRGM, ISL1, ISOC1, ITGA1, ITGA2, ITK, JADE2, JAKMIP2, JMY, KCNIP1, KCNMB1, KCNN2, KCTD16, KDM3B, KIAA0825, KIAA1191, KIF20A, KIF2A, KIF3A, KIF4B, KLHL3, LARP1, LARS1, LCP2, LEAP2, LECT2, LHFPL2, LIFR, LINC02899, LIX1, LMBRD2, LMNB1, LNPEP, LOC100128059, LOC100288254, LOX, LRRC70, LRRTM2, LSM11, LUCAT1, LVRN, LYRM7, LYSMD3, MACIR, MACROH2A1, MAN2A1, MAP1B, MAP3K1, MARCHF3, MARVELD2, MAST4, MAT2B, MATR3, MBLAC2, MCC, MCCC2, MCIDAS, MCTP1, MED7, MEF2C, MEGF10, MFAP3, MIER3, MINAR2, MIR103A1, MIR143, MIR145, MIR146A, MIR378A, MIR449A, MIR449B, MIR9-2, MOCS2, MROH2B, MRPL22, MRPS27, MRPS30, MRPS36, MSH3, MSX2, MTMR12, MTREX, MTRNR2L2, MTX3, MYOT, MYOZ3, MZB1, NADK2, NAIP, NCRUPAR, NDFIP1, NDST1, NDUFA2, NDUFAF2, NDUFS4, NEURL1B, NEUROG1, NIPAL4, NIPBL, NKX2-5, NLN, NME5, NMUR2, NNT, NOP16, |