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Items: 65

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
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 casesPathogenic
(Jul 18, 2014)
no assertion criteria provided
2.
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 casesPathogenic
(Mar 18, 2014)
no assertion criteria provided
3.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
4.
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 casesPathogenic
(Oct 15, 2012)
no assertion criteria provided
5.
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 casesPathogenic
(Aug 20, 2012)
no assertion criteria provided
6.
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 casesPathogenic
(Jan 14, 2011)
no assertion criteria provided
7.
GRCh37:
Chr5:114043258-125843436
GRCh38:
Chr5:114707561-126507744
See casesPathogenic
(Dec 13, 2010)
no assertion criteria provided
8.
GRCh37:
Chr5:116012818-132021855
GRCh38:
Chr5:116677122-132686163
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
9.
GRCh37:
Chr5:120031370-123861065
GRCh38:
Chr5:120695675-124525372
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
10.
GRCh37:
Chr5:120075325-126159676
GRCh38:
Chr5:120739630-126823984
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
11.
GRCh37:
Chr5:121814963-126168860
GRCh38:
Chr5:122479268-126833168
See casesUncertain significance
(Dec 22, 2010)
no assertion criteria provided
12.
GRCh37:
Chr5:122425794
GRCh38:
Chr5:123090099
PRDM6-AS1, PRDM6H29YInborn genetic diseasesUncertain significance
(Aug 2, 2021)
criteria provided, single submitter
13.
GRCh37:
Chr5:122425821
GRCh38:
Chr5:123090126
PRDM6, PRDM6-AS1S38GInborn genetic diseasesLikely benign
(Jul 22, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr5:122425830
GRCh38:
Chr5:123090135
PRDM6, PRDM6-AS1A41PInborn genetic diseasesUncertain significance
(Aug 30, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr5:122425834
GRCh38:
Chr5:123090139
PRDM6-AS1, PRDM6G42DInborn genetic diseasesUncertain significance
(Sep 7, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr5:122425837
GRCh38:
Chr5:123090142
PRDM6-AS1, PRDM6L43PInborn genetic diseasesLikely benign
(Oct 6, 2021)
criteria provided, single submitter
17.
GRCh37:
Chr5:122425866
GRCh38:
Chr5:123090171
PRDM6, PRDM6-AS1P53TInborn genetic diseasesUncertain significance
(Mar 11, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr5:122425870
GRCh38:
Chr5:123090175
PRDM6-AS1, PRDM6P54LInborn genetic diseasesUncertain significance
(Apr 6, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr5:122425876-122425877
GRCh38:
Chr5:123090181-123090182
PRDM6, PRDM6-AS1P58fsnot providedBenign
(Dec 31, 2019)
criteria provided, single submitter
20.
GRCh37:
Chr5:122425882
GRCh38:
Chr5:123090187
PRDM6-AS1, PRDM6P58RInborn genetic diseasesUncertain significance
(Aug 16, 2021)
criteria provided, single submitter
21.
GRCh37:
Chr5:122425908
GRCh38:
Chr5:123090213
PRDM6-AS1, PRDM6D67NInborn genetic diseasesUncertain significance
(Jul 14, 2021)
criteria provided, single submitter
22.
GRCh37:
Chr5:122425924
GRCh38:
Chr5:123090229
PRDM6-AS1, PRDM6R72LInborn genetic diseasesUncertain significance
(Nov 8, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr5:122425935
GRCh38:
Chr5:123090240
PRDM6, PRDM6-AS1L76FInborn genetic diseasesUncertain significance
(Jul 13, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr5:122425942
GRCh38:
Chr5:123090247
PRDM6-AS1, PRDM6S78CPatent ductus arteriosus 3Uncertain significance
(Jul 30, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr5:122425950
GRCh38:
Chr5:123090255
PRDM6, PRDM6-AS1S81TInborn genetic diseasesUncertain significance
(Aug 11, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr5:122425971-122425972
GRCh38:
Chr5:123090276-123090277
PRDM6, PRDM6-AS1not providedBenign
(Dec 31, 2019)
criteria provided, single submitter
27.
GRCh37:
Chr5:122426058
GRCh38:
Chr5:123090363
PRDM6P117SInborn genetic diseasesUncertain significance
(Jun 22, 2021)
criteria provided, single submitter
28.
GRCh37:
Chr5:122426127
GRCh38:
Chr5:123090432
PRDM6G140RInborn genetic diseasesUncertain significance
(Apr 7, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr5:122426167
GRCh38:
Chr5:123090472
PRDM6G153AInborn genetic diseasesUncertain significance
(Nov 18, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr5:122426168
GRCh38:
Chr5:123090473
PRDM6not providedLikely benign
(Jul 1, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr5:122426181
GRCh38:
Chr5:123090486
PRDM6G158RInborn genetic diseasesUncertain significance
(Apr 13, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr5:122426286
GRCh38:
Chr5:123090591
PRDM6S193GInborn genetic diseasesUncertain significance
(Oct 19, 2021)
criteria provided, single submitter
33.
GRCh37:
Chr5:122435456
GRCh38:
Chr5:123099761
PRDM6P234SInborn genetic diseasesUncertain significance
(Dec 7, 2021)
criteria provided, single submitter
34.
GRCh37:
Chr5:122435497
GRCh38:
Chr5:123099802
PRDM6E247Dnot providedUncertain significanceno assertion criteria provided
35.
GRCh37:
Chr5:122435544
GRCh38:
Chr5:123099849
PRDM6C263SPatent ductus arteriosus 3Pathogenic
(Jul 20, 2016)
no assertion criteria provided
36.
GRCh37:
Chr5:122491603
GRCh38:
Chr5:123155909
PRDM6Q309RInborn genetic diseasesUncertain significance
(Oct 22, 2021)
criteria provided, single submitter
37.
GRCh37:
Chr5:122491671
GRCh38:
Chr5:123155977
PRDM6C332RInborn genetic diseasesUncertain significance
(May 18, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr5:122495210
GRCh38:
Chr5:123159516
PRDM6S344LHeart, malformation ofUncertain significance
(Jul 17, 2019)
criteria provided, single submitter
39.
GRCh37:
Chr5:122495225
GRCh38:
Chr5:123159531
PRDM6R349QInborn genetic diseasesUncertain significance
(Jul 27, 2021)
criteria provided, single submitter
40.
GRCh37:
Chr5:122506537
GRCh38:
Chr5:123170843
PRDM6A411TInborn genetic diseasesUncertain significance
(Aug 30, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr5:122506621
GRCh38:
Chr5:123170927
PRDM6I439VInborn genetic diseasesUncertain significance
(Dec 16, 2021)
criteria provided, single submitter
42.
GRCh37:
Chr5:122506691
GRCh38:
Chr5:123170997
PRDM6Q462RPatent ductus arteriosus 3Pathogenic
(Jul 20, 2016)
no assertion criteria provided
43.
GRCh37:
Chr5:122515853
GRCh38:
Chr5:123180159
PRDM6not providedLikely benign
(Mar 1, 2021)
criteria provided, single submitter
44.
GRCh37:
Chr5:122515986
GRCh38:
Chr5:123180292
PRDM6I548VInborn genetic diseasesUncertain significance
(Jul 27, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr5:122515990
GRCh38:
Chr5:123180296
PRDM6R549QPatent ductus arteriosus 3Pathogenic
(Jul 20, 2016)
no assertion criteria provided
46.
GRCh37:
Chr5:122522870
GRCh38:
Chr5:123187176
PRDM6S588TInborn genetic diseasesUncertain significance
(Aug 9, 2021)
criteria provided, single submitter
47.
GRCh37:
Chr5:122522888
GRCh38:
Chr5:123187194
PRDM6V594GPatent ductus arteriosus 3Uncertain significance
(May 7, 2018)
criteria provided, single submitter
48.
GRCh37:
Chr5:112557391-128106299
not providedPathogenic
(Nov 2, 2021)
criteria provided, single submitter
49.
GRCh37:
Chr5:100607918-125900735
not specifiedPathogenic
(Mar 1, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr5:122143334-123430731
CEP120, CSNK1G3, SNX2, PRDM6, SNX24, PPICnot providedUncertain significance
(Jun 6, 2018)
no assertion criteria provided
51.
GRCh37:
Chr5:89949118-129317455
not providedPathogenic
(May 12, 2017)
no assertion criteria provided
52.
GRCh37:
Chr5:122451606-122673501
PRDM6not providedUncertain significance
(Jul 12, 2017)
no assertion criteria provided
53.
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 disorderUncertain significance
(Apr 9, 2019)
criteria provided, single submitter
54.
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 providedPathogenic
(Jan 5, 2017)
no assertion criteria provided
55.
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 providedPathogenic
(Jan 1, 2013)
no assertion criteria provided
56.
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 1Pathogenic
(Dec 3, 2021)
criteria provided, single submitter
57.
GRCh37:
Chr5:121108870-122778090
CEP120, FTMT, LOX, PPIC, PRDM6, SNCAIP, SNX2, SNX24, SRFBP1, ZNF474See casesUncertain significance
(Dec 22, 2014)
no assertion criteria provided
58.
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,