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Items: 1 to 100 of 110

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
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
2.
GRCh37:
Chr5:130196621-154701371
GRCh38:
Chr5:130860928-155321811
LOC123575584, LOC123575585, LOC123575586, LOC123575587, LOC123575588, LOC123575589, LOC123575590, LOC123575592, LOC123575593, LOC123575594, LOC123575595, LOC123575596, LOC123575597, LOC123575598, LOC123575599, LOC123575600, LOC123575601, LOC123575602, LOC123575603, LOC123575604, LOC123575605, 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, LOC127814297, LOC128772274, LRRTM2, LYRM7, MACROH2A1, MALINC1, MARCOL, MATR3, MEIKIN, MFAP3, MIR1289-2, MIR1294, MIR1303, MIR143, MIR145, MIR3141, MIR3655, MIR3661, MIR378A, MIR378H, MIR3936, MIR3936HG, MIR4461, MIR5197, MIR5692C1, MIR584, MIR6499, MIR6830, MIR6831, MIR874, MRPL22, MYOT, MYOZ3, MZB1, NDFIP1, NDST1, NDST1-AS1, NDUFA2, NEUROG1, NME5, NMUR2, NR3C1, 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, PITX1, PITX1-AS1, PKD2L2, PKD2L2-DT, PLAC8L1, POU4F3, PPARGC1B, PPP2CA, PPP2R2B, PPP2R2B-IT1, PRELID2, PROB1, PSD2, PSD2-AS1, PURA, RAD50, RAPGEF6, RBM22, RBM27, REEP2, RELL2, RNF14, RPS14, SAP30L, SAP30L-AS1, SAR1B, SCGB3A2, SEC24A, SEPTIN8, SH3RF2, SH3TC2, SH3TC2-DT, SHROOM1, SIL1, SKP1, SLC22A4, SLC22A5, SLC23A1, SLC25A2, SLC25A48, SLC25A48-AS1, SLC26A2, SLC35A4, SLC36A1, SLC36A2, SLC36A3, SLC4A9, SLC6A7, SMAD5, SMAD5-AS1, SMIM3, SMIM32, SMIM33, SNHG4, SNORA74A, SNORA74D, SNORD63, SNORD63B, SOWAHA, SPARC, SPATA24, SPINK1, SPINK13, SPINK14, SPINK5, SPINK6, SPINK7, SPINK9, SPOCK1, SPRY4, SPRY4-AS1, SPRY4-IT1, SRA1, STING1, STK32A, STK32A-AS1, SYNPO, TAF7, TCERG1, TCF7, TCOF1, TGFBI, TH2-LCR, TH2LCRR, TIFAB, TIGD6, TMCO6, TNIP1, TRPC7, TRPC7-AS1, TRPC7-AS2, TXNDC15, UBE2B, UBE2D2, UQCRQ, VDAC1, VTRNA1-1, VTRNA1-2, VTRNA1-3, VTRNA2-1, WDR55, WNT8A, WSPAR, YIPF5, ZCCHC10, ZMAT2, ZNF300, ABLIM3, ACSL6, ACSL6-AS1, ADRB2, AFAP1L1, AFF4, ANKHD1, ANKHD1-EIF4EBP3, ANXA6, APBB3, ARAP3, ARHGAP26, ARHGAP26-AS1, ARHGAP26-IT1, ARHGEF37, ARSI, ATOX1, ATOX1-AS1, BRD8, C5orf15, C5orf24, C5orf46, CAMK2A, CAMLG, CARMN, CATSPER3, CCDC69, CCNI2, CD14, CD74, CDC23, CDC25C, CDC42SE2, CDKL3, CDKN2AIPNL, CDX1, CLMAT3, CNOT8, CSF1R, CSF2, CSNK1A1, CTNNA1, CTNNA1-AS1, CXCL14, CXXC5, CXXC5-AS1, CYSTM1, DCANP1, DCTN4, DDX46, DELE1, DIAPH1, DIAPH1-AS1, DNAJC18, DND1, DPYSL3, ECSCR, EGR1, EIF4EBP3, EPIST, ETF1, FAM114A2, FAM13B, FAM13B-AS1, FAM53C, FAT2, FAXDC2, FBXO38, FBXO38-DT, FCHSD1, FGF1, FNIP1, FSTL4, G3BP1, GALNT10, GDF9, GEMIN5, GFRA3, GLRA1, GM2A, GNPDA1, GPR151, GPX3, GRIA1, GRPEL2, GRPEL2-AS1, GRXCR2, HAND1, HARS1, HARS2, HBEGF, HDAC3, HINT1, HMGXB3, HMHB1, HNRNPA0, HSPA4, HSPA9, HTR4, IGIP, IK, IL13, IL17B, IL3, IL4, IL5, IL9, IRF1, IRF1-AS1, IRGM, JADE2, JAKMIP2, JAKMIP2-AS1, KCTD16, KDM3B, KIF20A, KIF3A, KIF4B, KLHL3, LARP1, LARS1, LEAP2, LECT2, LINC01470, LINC01843, LINC01844, LINC01861, LINC01933, LINC02863, LINC02900, LINC02999, LOC100128966, LOC100652758, LOC101929719, LOC105378230, LOC105379176, LOC105379183, LOC105379192, LOC107198087, LOC107986453, LOC108178993, LOC108228201, LOC108281143, LOC108449898, LOC108660405, LOC109113859, LOC109113860, LOC109113862, LOC110121107, LOC110121118, LOC110121171, LOC110121202, LOC110121271, LOC111188152, LOC111188153, LOC111188154, LOC111188156, LOC111365180, LOC111429606, LOC111500310, LOC111828524, LOC112267934, LOC112997558, LOC112997559, LOC112997560, LOC112997561, LOC112997562, LOC112997563, LOC112997564, LOC112997565, LOC112997566, LOC112997567, LOC112997568, LOC112997569, LOC112997570, LOC114004387, LOC114004388, LOC114004389, LOC114004390, LOC116158522, LOC116158523, LOC116158524, LOC116158525, LOC116158526, LOC119407423, LOC120285837, LOC121079960, LOC121079961, LOC121079962, LOC121099701, LOC121099702, LOC121099703, LOC121099704, LOC121099705, LOC121099706, LOC121099707, LOC121099708, LOC121099709, LOC121099710, LOC121725217, LOC121740630, LOC121740631, 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
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
3.
GRCh37:
Chr5:149094155-180699152
GRCh38:
Chr5:149714592-181272151
ADAM19, ADAMTS2, ADRA1B, ANXA6, ARL10, ARSI, ATOX1, ATOX1-AS1, ATP10B, ATP6V0E1, B4GALT7, BNIP1, BOD1, BTNL3, BTNL8, BTNL9, C1QTNF2, C5orf47, C5orf52, C5orf58, C5orf60, CAMK2A, CANX, CBY3, CCDC69, CCNG1, CCNJL, CD74, CDHR2, CDX1, CLINT1, CLK4, CLMAT3, CLTB, CNOT6, CNOT8, COL23A1, CPEB4, CPLX2, CREBRF, CSF1R, CTC-338M12.4, CYFIP2, DBN1, DCTN4, DDX41, DOCK2, DOK3, DRD1, DUSP1, EBF1, EFCAB9, EIF4E1B, ERGIC1, F12, FABP6, FABP6-AS1, FAF2, FAM114A2, FAM153A, FAM153B, FAM193B, FAM200C, FAT2, FAXDC2, FBLL1, FBXW11, FGF18, FGFR4, FLT4, FNDC9, FOXI1, G3BP1, GABRA1, GABRA6, GABRB2, GABRG2, GABRP, GALNT10, GARIN3, GEMIN5, GFPT2, GLRA1, GM2A, GMCL2, GPRIN1, GPX3, GRIA1, GRK6, GRM6, HAND1, HAVCR1, HAVCR2, HEIH, HIGD2A, HK3, HMGXB3, HMMR, HMMR-AS1, HNRNPAB, HNRNPH1, HRH2, IL12B, INSYN2B, IRGM, ITK, KCNIP1, KCNIP1-AS1, KCNIP1-OT1, KCNMB1, KIAA1191, KIF4B, LARP1, LCP2, LINC00847, LINC01187, LINC01202, LINC01366, LINC01411, LINC01470, LINC01484, LINC01485, LINC01574, LINC01845, LINC01847, LINC01861, LINC01932, LINC01933, LINC01938, LINC01942, LINC01944, LINC01947, LINC01951, LINC01962, LINC02143, LINC02159, LINC02202, LINC02222, LINC02227, LINC02995, LINC03000, LMAN2, LOC100128059, LOC100128340, LOC100130798, LOC100288254, LOC100289470, LOC100502572, LOC100507387, LOC100652758, LOC100996385, LOC101927908, LOC101928093, LOC102546299, LOC105377763, LOC105378230, LOC105980006, LOC105980008, LOC108004526, LOC108228201, LOC109279841, LOC110120620, LOC110120643, LOC110120714, LOC110120747, LOC110120777, LOC110120965, LOC110120995, LOC110120998, LOC110121000, LOC110121027, LOC110121041, LOC110121211, LOC110121241, LOC110121272, LOC110121284, LOC111188152, LOC111188153, LOC111188154, LOC111188156, LOC111429606, LOC111500319, LOC111556140, LOC111828524, LOC112997568, LOC112997569, LOC112997570, LOC112997571, LOC112997572, LOC112997574, LOC112997575, LOC112997576, LOC112997577, LOC112997578, LOC112997579, LOC112997580, LOC112997581, LOC112997582, LOC112997583, LOC112997584, LOC114004391, LOC116158526, LOC116158527, LOC116158528, LOC116158530, LOC116158531, LOC116158532, LOC116158533, LOC116158534, LOC116158535, LOC116158536, LOC121099710, LOC121099711, LOC121099712, LOC121099713, LOC121099714, LOC121099715, LOC121099716, LOC121099717, LOC121099718, LOC121740630, LOC121740631, LOC121740632, LOC121740633, LOC121740634, LOC121740635, LOC123575590, LOC123575592, LOC123575593, LOC123575594, LOC123575595, LOC123575596, LOC123575597, LOC123575598, LOC123575599, LOC123575600, LOC123575601, LOC123575602, LOC123575603, LOC123575604, LOC123575605, LOC123575606, LOC123575607, LOC123575608, LOC123575609, LOC123575610, LOC123575611, LOC123575612, LOC123575614, LOC123575615, LOC123575616, LOC123575617, LOC123575618, LOC123575619, LOC123575620, LOC123575621, LOC123575622, LOC123575623, LOC123575624, LOC123575625, LOC123575626, LOC123575627, LOC123575628, LOC123575629, LOC123575630, LOC123575631, LOC123575632, LOC123575633, LOC123575634, LOC123575635, LOC123575636, LOC123575637, LOC123575638, LOC123575639, LOC123575640, LOC123575641, LOC126807551, LOC126807552, LOC126807553, LOC126807554, LOC126807555, LOC126807556, LOC126807557, LOC126807558, LOC126807559, LOC126807560, LOC126807561, LOC126807562, LOC126807563, LOC126807564, LOC126807565, LOC126807566, LOC126807567, LOC126807568, LOC126807569, LOC126807570, LOC126807571, LOC126807572, LOC126807573, LOC126807574, LOC126807575, LOC126807576, LOC126807577, LOC126807578, LOC126807579, LOC126807580, LOC126807581, LOC126807582, LOC126807583, LOC126807584, LOC126807585, LOC126807586, LOC126807587, LOC126807588, LOC126807589, LOC126807590, LOC126807591, LOC126807592, LOC126807593, LOC126807594, LOC126807595, LOC126807596, LOC126807597, LOC126807598, LOC126807599, LOC126807600, LOC126807601, LOC126807602, LOC126807603, LOC126807604, LOC126807605, LOC126807606, LOC126807607, LOC126807608, LOC126807609, LOC126807610, LOC126807611, LOC126807612, LOC126807613, LOC126807614, LOC126807615, LOC126807616, LOC126807617, LOC126807618, LOC126807619, LOC126807620, LOC126807621, LOC126807622, LOC126807623, LOC126807624, LOC126807625, LOC126807626, LOC126807627, LOC126807628, LOC126807629, LOC126807630, LOC126807631, LOC126807632, LOC126807633, LOC128772274, LOC285626, LSM11, LTC4S, MAML1, MAPK9, MAT2B, MED7, MFAP3, MGAT1, MGAT4B, MIR103A1, MIR103B1, MIR10523, MIR12118, MIR12125, MIR1229, MIR1271, MIR1294, MIR1303, MIR146A, MIR218-2, MIR3141, MIR3142, MIR3142HG, MIR340, MIR378A, MIR378E, MIR378H, MIR3912, MIR4281, MIR4634, MIR4638, MIR5003, MIR585, MIR6499, MIR8056, MIR8089, MRNIP, MRNIP-DT, MRPL22, MSANTD5, MSX2, MXD3, MYOZ3, N4BP3, NDST1, NDST1-AS1, NEURL1B, NHP2, NIPAL4, NIPAL4-DT, NKX2-5, NMUR2, NOP16, NPM1, NSD1, NSG2, NUDCD2, OR2V1, OR2V2, OR2Y1, PANK3, PDE6A, PDGFRB, PDLIM7, PFN3, PHYKPL, PPARGC1B, PPP1R2B, PRELID1, PROP1, PRR7, PRR7-AS1, PTTG1, PWWP2A, RAB24, RACK1, RANBP17, RARS1, RASGEF1C, RBM22, RGS14, RMND5B, RNF130, RNF145, RNF44, RPL26L1, RPL26L1-AS1, RPS14, RUFY1, RUFY1-AS1, SAP30L, SAP30L-AS1, SCGB3A1, SFXN1, SGCD, SH3PXD2B, SIMC1, SLC26A2, SLC34A1, SLC36A1, SLC36A2, SLC36A3, SLC6A7, SLIT3, SLIT3-AS1, SLIT3-AS2, SLU7, SMIM23, SMIM3, SNCB, SNORA70J, SNORA74B, SNORD95, SNORD96A, SOX30, SPARC, SPDL1, SQSTM1, STC2, STK10, SYNPO, TBC1D9B, TCOF1, TENM2, TENM2-AS1, THG1L, THOC3, THOC3-AS1, TIGD6, TIMD4, TRIM52-AS1, TLX3, TMED9, TNIP1, TRA-TGC3-1, TRIM41, TRIM52, TRIM7, TRIM7-AS2, TRK-CTT2-2, TRK-CTT2-3, TRL-AAG1-1, TRL-AAG1-2, TRL-AAG1-3, TRL-AAG2-1, TRP-TGG3-1, TRT-TGT6-1, TRV-AAC1-2, TRV-AAC1-3, TRV-AAC1-4, TRV-AAC2-1, TRV-CAC1-2, TRV-CAC1-3, TRV-CAC1-4, TRV-CAC1-5, TSPAN17, TTC1, UBLCP1, UBTD2, UIMC1, UNC5A, WWC1, ZFP2, ZFP62, ZNF300, ZNF346, ZNF354A, ZNF354B, ZNF354C, ZNF454, ZNF879
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
4.
GRCh37:
Chr5:151823430-165531397
GRCh38:
Chr5:152443869-166104392
See casesPathogenic
(Apr 2, 2012)
no assertion criteria provided
5.
GRCh37:
Chr5:152140747-166675058
GRCh38:
Chr5:152761187-167248053
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
6.
GRCh37:
Chr5:153855367
GRCh38:
Chr5:154475807
HAND1Hypoplastic left heart syndromeUncertain significance
(May 8, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr5:153855374
GRCh38:
Chr5:154475814
HAND1N214HHypoplastic left heart syndromeUncertain significance
(Dec 31, 2021)
criteria provided, single submitter
8.
GRCh37:
Chr5:153855405
GRCh38:
Chr5:154475845
HAND1Hypoplastic left heart syndromeLikely benign
(Jul 25, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr5:153855408
GRCh38:
Chr5:154475848
HAND1Hypoplastic left heart syndromeLikely benign
(Oct 18, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr5:153855410
GRCh38:
Chr5:154475850
HAND1T202AHypoplastic left heart syndromeUncertain significance
(Mar 22, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr5:153855414
GRCh38:
Chr5:154475854
HAND1Hypoplastic left heart syndromeLikely benign
(Aug 18, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr5:153855414
GRCh38:
Chr5:154475854
HAND1Hypoplastic left heart syndromeLikely benign
(Dec 3, 2021)
criteria provided, single submitter
13.
GRCh37:
Chr5:153855427
GRCh38:
Chr5:154475867
HAND1K196RHypoplastic left heart syndrome 1, Hypoplastic left heart syndromeUncertain significance
(Sep 1, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr5:153855433
GRCh38:
Chr5:154475873
HAND1V194AInborn genetic diseasesUncertain significance
(Jan 7, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr5:153855435
GRCh38:
Chr5:154475875
HAND1Hypoplastic left heart syndromeLikely benign
(Sep 20, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr5:153855440
GRCh38:
Chr5:154475880
HAND1G192SHypoplastic left heart syndromeUncertain significance
(Oct 12, 2021)
criteria provided, single submitter
17.
GRCh37:
Chr5:153855448
GRCh38:
Chr5:154475888
HAND1P189LHypoplastic left heart syndromeUncertain significance
(Oct 23, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr5:153855449
GRCh38:
Chr5:154475889
HAND1P189SHypoplastic left heart syndromeUncertain significance
(Feb 6, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr5:153855450
GRCh38:
Chr5:154475890
HAND1Hypoplastic left heart syndromeLikely benign
(Aug 9, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr5:153855463
GRCh38:
Chr5:154475903
HAND1H184LHypoplastic left heart syndromeUncertain significance
(Jul 19, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr5:153855488
GRCh38:
Chr5:154475928
HAND1Hypoplastic left heart syndromeUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
22.
GRCh37:
Chr5:153856956
GRCh38:
Chr5:154477396
HAND1not providedBenign
(May 26, 2021)
criteria provided, single submitter
23.
GRCh37:
Chr5:153856974
GRCh38:
Chr5:154477414
HAND1not providedBenign
(May 12, 2021)
criteria provided, single submitter
24.
GRCh37:
Chr5:153857007
GRCh38:
Chr5:154477447
HAND1Hypoplastic left heart syndromeLikely benign
(Jan 3, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr5:153857034
GRCh38:
Chr5:154477474
HAND1R179WHypoplastic left heart syndromeUncertain significance
(Feb 19, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr5:153857038
GRCh38:
Chr5:154477478
HAND1not provided, Hypoplastic left heart syndromeBenign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr5:153857051
GRCh38:
Chr5:154477491
HAND1R173LHypoplastic left heart syndromeLikely benign
(Oct 29, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr5:153857053
GRCh38:
Chr5:154477493
HAND1Hypoplastic left heart syndromeLikely benign
(Oct 18, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr5:153857057
GRCh38:
Chr5:154477497
HAND1G171DHypoplastic left heart syndromeUncertain significance
(May 19, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr5:153857065
GRCh38:
Chr5:154477505
HAND1Hypoplastic left heart syndromeLikely benign
(Apr 24, 2021)
criteria provided, single submitter
31.
GRCh37:
Chr5:153857073
GRCh38:
Chr5:154477513
HAND1L166FHypoplastic left heart syndromeUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
32.
GRCh37:
Chr5:153857101
GRCh38:
Chr5:154477541
HAND1Hypoplastic left heart syndromeLikely benign
(Nov 30, 2021)
criteria provided, single submitter
33.
GRCh37:
Chr5:153857101
GRCh38:
Chr5:154477541
HAND1not provided, Hypoplastic left heart syndromeBenign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr5:153857115
GRCh38:
Chr5:154477555
HAND1K152EHypoplastic left heart syndromeUncertain significance
(Feb 28, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr5:153857122
GRCh38:
Chr5:154477562
HAND1Hypoplastic left heart syndromeLikely benign
(Nov 3, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr5:153857147
GRCh38:
Chr5:154477587
HAND1S141NHypoplastic left heart syndromeUncertain significance
(Mar 9, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr5:153857149
GRCh38:
Chr5:154477589
HAND1Hypoplastic left heart syndromeLikely benign
(May 9, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr5:153857169
GRCh38:
Chr5:154477609
HAND1K134*Hypoplastic left heart syndromeUncertain significance
(Dec 26, 2020)
criteria provided, single submitter
39.
GRCh37:
Chr5:153857195
GRCh38:
Chr5:154477635
HAND1P125LHypoplastic left heart syndromeUncertain significance
(Dec 29, 2021)
criteria provided, single submitter
40.
GRCh37:
Chr5:153857199
GRCh38:
Chr5:154477639
HAND1V124LHypoplastic left heart syndromeUncertain significance
(Aug 27, 2021)
criteria provided, single submitter
41.
GRCh37:
Chr5:153857205
GRCh38:
Chr5:154477645
HAND1P122SHypoplastic left heart syndromeUncertain significance
(Dec 30, 2021)
criteria provided, single submitter
42.
GRCh37:
Chr5:153857212
GRCh38:
Chr5:154477652
HAND1E119DHypoplastic left heart syndromeLikely benign
(Aug 9, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr5:153857224
GRCh38:
Chr5:154477664
HAND1Hypoplastic left heart syndromeLikely benign
(Jul 22, 2021)
criteria provided, single submitter
44.
GRCh37:
Chr5:153857230
GRCh38:
Chr5:154477670
HAND1Hypoplastic left heart syndromeLikely benign
(Apr 16, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr5:153857261
GRCh38:
Chr5:154477701
HAND1E103GHypoplastic left heart syndromeUncertain significance
(Feb 20, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr5:153857280
GRCh38:
Chr5:154477720
HAND1G97CHypoplastic left heart syndrome 1, Hypoplastic left heart syndromeUncertain significance
(Aug 26, 2021)
criteria provided, single submitter
47.
GRCh37:
Chr5:153857289
GRCh38:
Chr5:154477729
HAND1Hypoplastic left heart syndromeLikely benign
(Mar 18, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr5:153857290
GRCh38:
Chr5:154477730
HAND1Hypoplastic left heart syndromeLikely benign
(Oct 25, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr5:153857298
GRCh38:
Chr5:154477738
HAND1R91SHypoplastic left heart syndromeUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
50.
GRCh37:
Chr5:153857308
GRCh38:
Chr5:154477748
HAND1Hypoplastic left heart syndromeLikely benign
(Oct 3, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr5:153857312
GRCh38:
Chr5:154477752
HAND1E86VHypoplastic left heart syndromeUncertain significance
(Nov 3, 2017)
criteria provided, single submitter
52.
GRCh37:
Chr5:153857317
GRCh38:
Chr5:154477757
HAND1Hypoplastic left heart syndromeLikely benign
(Aug 9, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr5:153857319
GRCh38:
Chr5:154477759
HAND1R84GHypoplastic left heart syndromeUncertain significance
(Sep 18, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr5:153857322
GRCh38:
Chr5:154477762
HAND1G83RInborn genetic diseasesUncertain significance
(Dec 6, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr5:153857322
GRCh38:
Chr5:154477762
HAND1G83Wnot specified, Hypoplastic left heart syndromeBenign/Likely benign
(Oct 27, 2022)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr5:153857324
GRCh38:
Chr5:154477764
HAND1P82LHypoplastic left heart syndromeUncertain significance
(Sep 28, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr5:153857332
GRCh38:
Chr5:154477772
HAND1Hypoplastic left heart syndromeLikely benign
(Mar 26, 2021)
criteria provided, single submitter
58.
GRCh37:
Chr5:153857344
GRCh38:
Chr5:154477784
HAND1Hypoplastic left heart syndromeLikely benign
(Jan 21, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr5:153857350
GRCh38:
Chr5:154477790
HAND1Hypoplastic left heart syndromeLikely benign
(Jul 12, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr5:153857354
GRCh38:
Chr5:154477794
HAND1Y72CHypoplastic left heart syndromeUncertain significance
(May 31, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr5:153857359
GRCh38:
Chr5:154477799
HAND1Hypoplastic left heart syndromeLikely benign
(May 1, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr5:153857365
GRCh38:
Chr5:154477805
HAND1Hypoplastic left heart syndromeLikely benign
(Mar 1, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr5:153857367
GRCh38:
Chr5:154477807
HAND1A68PHypoplastic left heart syndromeUncertain significance
(May 26, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr5:153857373
GRCh38:
Chr5:154477813
HAND1A66THypoplastic left heart syndromeUncertain significance
(Dec 21, 2021)
criteria provided, single submitter
65.
GRCh37:
Chr5:153857382
GRCh38:
Chr5:154477822
HAND1P63SHypoplastic left heart syndromeUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
66.
GRCh37:
Chr5:153857383
GRCh38:
Chr5:154477823
HAND1Hypoplastic left heart syndromeLikely benign
(Feb 18, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr5:153857386
GRCh38:
Chr5:154477826
HAND1Hypoplastic left heart syndromeLikely benign
(Aug 18, 2021)
criteria provided, single submitter
68.
GRCh37:
Chr5:153857389
GRCh38:
Chr5:154477829
HAND1Hypoplastic left heart syndromeBenign
(Oct 22, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr5:153857395
GRCh38:
Chr5:154477835
HAND1Hypoplastic left heart syndromeLikely benign
(Jul 12, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr5:153857395
GRCh38:
Chr5:154477835
HAND1Hypoplastic left heart syndrome, not providedLikely benign
(Aug 7, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr5:153857396
GRCh38:
Chr5:154477836
HAND1A58VHypoplastic left heart syndromeUncertain significance
(Aug 5, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr5:153857407
GRCh38:
Chr5:154477847
HAND1Hypoplastic left heart syndromeBenign
(Nov 1, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr5:153857408
GRCh38:
Chr5:154477848
HAND1P54LHypoplastic left heart syndromeUncertain significance
(Sep 3, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr5:153857408
GRCh38:
Chr5:154477848
HAND1P54RHypoplastic left heart syndromeUncertain significance
(Sep 24, 2021)
criteria provided, single submitter
75.
GRCh37:
Chr5:153857411
GRCh38:
Chr5:154477851
HAND1A53VHypoplastic left heart syndromeUncertain significance
(Feb 1, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr5:153857417
GRCh38:
Chr5:154477857
HAND1D51VHypoplastic left heart syndromeUncertain significance
(Jan 27, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr5:153857423
GRCh38:
Chr5:154477863
HAND1P49RHypoplastic left heart syndromeUncertain significance
(Oct 14, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr5:153857434
GRCh38:
Chr5:154477874
HAND1W45CHypoplastic left heart syndromeUncertain significance
(Oct 27, 2021)
criteria provided, single submitter
79.
GRCh37:
Chr5:153857437
GRCh38:
Chr5:154477877
HAND1S44RInborn genetic diseases, Hypoplastic left heart syndromeUncertain significance
(Jul 26, 2022)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr5:153857441
GRCh38:
Chr5:154477881
HAND1Q43RHypoplastic left heart syndromeUncertain significance
(Jul 19, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr5:153857447
GRCh38:
Chr5:154477887
HAND1Y41CInborn genetic diseases, Hypoplastic left heart syndromeUncertain significance
(Jul 29, 2022)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr5:153857451
GRCh38:
Chr5:154477891
HAND1P40THypoplastic left heart syndromeUncertain significance
(Feb 27, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr5:153857452
GRCh38:
Chr5:154477892
HAND1R39SHypoplastic left heart syndromeUncertain significance
(Aug 20, 2021)
criteria provided, single submitter
84.
GRCh37:
Chr5:153857481
GRCh38:
Chr5:154477921
HAND1G30SHypoplastic left heart syndromeLikely benign
(Sep 9, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr5:153857493
GRCh38:
Chr5:154477933
HAND1P26SHypoplastic left heart syndromeLikely benign
(Oct 9, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr5:153857495-153857496
GRCh38:
Chr5:154477935-154477936
HAND1E25fsHypoplastic left heart syndromeUncertain significance
(Jul 19, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr5:153857502
GRCh38:
Chr5:154477942
HAND1L23FHypoplastic left heart syndromeUncertain significance
(Aug 14, 2021)
criteria provided, single submitter
88.
GRCh37:
Chr5:153857507
GRCh38:
Chr5:154477947
HAND1P21LHypoplastic left heart syndromeUncertain significance
(Jul 19, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr5:153857523-153857531
GRCh38:
Chr5:154477963-154477971
HAND1Hypoplastic left heart syndromeUncertain significance
(Sep 19, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr5:153857523
GRCh38:
Chr5:154477963
HAND1P16THypoplastic left heart syndromeBenign
(Oct 22, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr5:153857532
GRCh38:
Chr5:154477972
HAND1H13YHypoplastic left heart syndromeUncertain significance
(Oct 13, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr5:153857559
GRCh38:
Chr5:154477999
HAND1V4LInborn genetic diseasesUncertain significance
(Jul 9, 2021)
criteria provided, single submitter
93.
GRCh37:
Chr5:153857559
GRCh38:
Chr5:154477999
HAND1V4MHypoplastic left heart syndromeUncertain significance
(Oct 3, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr5:153857562
GRCh38:
Chr5:154478002
HAND1L3VHypoplastic left heart syndromeUncertain significance
(May 22, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr5:153857568
GRCh38:
Chr5:154478008
HAND1M1VHypoplastic left heart syndromeUncertain significance
(Dec 14, 2021)
criteria provided, single submitter
96.
GRCh37:
Chr5:153857769
GRCh38:
Chr5:154478209
HAND1not providedBenign
(May 12, 2021)
criteria provided, single submitter
97.
GRCh37:
Chr5:153855366-153857568
HAND1Hypoplastic left heart syndromeUncertain significance
(Nov 19, 2021)
criteria provided, single submitter
98.
GRCh37:
Chr5:153855366-153857568
HAND1Hypoplastic left heart syndromeUncertain significance
(Sep 1, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr5:150535183-172906793
not providedPathogenic
(May 16, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr5:149010383-180719789
ADAM19, ADAMTS2, ADRA1B, ANXA6, ARHGEF37, ARL10, ARSI, ATOX1, ATP10B, ATP6V0E1, B4GALT7, BNIP1, BOD1, BTNL3, BTNL8, BTNL9, C1QTNF2, C5orf47, C5orf52, C5orf58, C5orf60, CAMK2A, CANX, CBY3, CCDC69, CCNG1, CCNJL, CD74, CDHR2, CDX1, CLINT1, CLK4, CLTB, CNOT6, CNOT8, COL23A1, CPEB4, CPLX2, CREBRF, CSF1R, CYFIP2, DBN1, DCTN4, DDX41, DOCK2, DOK3, DRD1, DUSP1, EBF1, EFCAB9, EIF4E1B, ERGIC1, F12, FABP6, FAF2, FAM114A2, FAM153A, FAM153B, FAM193B, FAM200C, FAT2, FAXDC2, FBXW11, FGF18, FGFR4, FLT4, FNDC9, FOXI1, G3BP1, GABRA1, GABRA6, GABRB2, GABRG2, GABRP, GALNT10, GARIN3, GEMIN5, GFPT2, GLRA1, GM2A, GPRIN1, GPX3, GRIA1, GRK6, GRM6, HAND1, HAVCR1, HAVCR2, HIGD2A, HK3, HMGXB3, HMMR, HNRNPAB, HNRNPH1, HRH2, IL12B, INSYN2B, IRGM, ITK, KCNIP1, KCNMB1, KIAA1191, KIF4B, LARP1, LCP2, LMAN2, LOC100128059, LOC100288254, LSM11, LTC4S, MAML1, MAPK9, MAT2B, MED7, MFAP3, MGAT1, MGAT4B, MIR103A1, MIR146A, MIR378A, MRNIP, MRPL22, MSX2, MXD3, MYOZ3, N4BP3, NDST1, NEURL1B, NHP2, NIPAL4, NKX2-5, NMUR2, NOP16, NPM1, NSD1, NUDCD2, OR2V1, OR2V2, OR2Y1, PANK3, PDE6A, PDGFRB, PDLIM7, PFN3, PHYKPL, PPARGC1B, PRELID1, PROP1, PRR7, PTTG1, PWWP2A, RAB24, RACK1, RANBP17, RARS1, RASGEF1C, RBM22, RGS14, RMND5B, RNF130, RNF145, RNF44, RPL26L1, RPS14, RUFY1, SAP30L, SCGB3A1, SFXN1, SGCD, SH3PXD2B, SIMC1, SLC26A2, SLC34A1, SLC36A1, SLC36A2, SLC36A3, SLC6A7, SLIT3, SLU7, SMIM23, SMIM3, SNCB, SNORA74B, SOX30, SPARC, SPDL1, SQSTM1, STC2, STK10, SYNPO, TBC1D9B, TCOF1, TENM2, THG1L, THOC3, TIGD6, TIMD4, TLX3, TMED9, TNIP1, TRIM41, TRIM52, TRIM7, TRK-CTT2-3, TRP-TGG3-1, TRT-TGT6-1, TRV-AAC1-4, TRV-CAC1-2, TSPAN17, TTC1, UBLCP1, UBTD2, UIMC1, UNC5A, WWC1, ZFP2, ZFP62, ZNF300, ZNF346, ZNF354A, ZNF354B, ZNF354C, ZNF454, ZNF879
Hunter-McAlpine craniosynostosisPathogenicno assertion criteria provided
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