AFF4[gene] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 596721.	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1 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
Select item 1498582.	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3 GRCh37: Chr5:129183487-152733106 GRCh38: Chr5:129847794-153353546	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, CHSY3, CLMAT3, 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, FAM13B, FAM13B-AS1, FAM53C, FAT2, FBXO38, FBXO38-DT, FCHSD1, FGF1, FNIP1, FSTL4, G3BP1, GDF9, GFRA3, GLRA1, GM2A, GNPDA1, GPR151, GPX3, GRPEL2, GRPEL2-AS1, GRXCR2, 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, KLHL3, LARS1, LEAP2, LECT2, LINC01470, LINC01843, LINC01844, LINC01933, LINC02863, LINC02900, LINC02999, LOC100128966, LOC100652758, LOC101929719, LOC105378230, LOC105379176, LOC105379183, LOC105379192, LOC107198087, LOC107986453, LOC108178993, LOC108281143, LOC108449898, LOC108660405, LOC109113859, LOC109113860, LOC109113862, LOC110121107, LOC110121118, LOC110121171, LOC110121202, LOC110121271, LOC111188152, LOC111188153, LOC111188154, LOC111188156, LOC111365180, LOC111429606, LOC111500310, LOC111828524, LOC112267934, LOC112997557, LOC112997558, LOC112997559, LOC112997560, LOC112997561, LOC112997562, LOC112997563, LOC112997564, LOC112997565, LOC112997566, LOC112997567, LOC112997568, LOC112997569, LOC114004387, LOC114004388, LOC114004389, LOC114004390, LOC116158522, LOC116158523, LOC116158524, LOC116158525, LOC119407423, LOC120285837, LOC121079960, LOC121079961, LOC121079962, LOC121099701, LOC121099702, LOC121099703, LOC121099704, LOC121099705, LOC121099706, LOC121099707, LOC121099708, LOC121099709, LOC121099710, LOC121725217, LOC121740630, 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, 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, LOC127814297, LOC128772274, LRRTM2, LYRM7, MACROH2A1, MALINC1, MARCOL, MATR3, MEIKIN, MIR1289-2, MIR143, MIR145, MIR3655, MIR3661, MIR378A, MIR3936, MIR3936HG, MIR4461, MIR5197, MIR5692C1, MIR584, MIR6499, MIR6830, MIR6831, MIR874, 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, 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		See cases	Pathogenic (Sep 21, 2012)	no assertion criteria provided
Select item 574833.	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3 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 cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 1461194.	GRCh38/hg38 5q31.1(chr5:131626503-135815054)x1 GRCh37: Chr5:130962196-135150743 GRCh38: Chr5:131626503-135815054	ACSL6, ACSL6-AS1, AFF4, C5orf15, C5orf24, CAMLG, CATSPER3, CCNI2, CDKL3, CDKN2AIPNL, CSF2, CXCL14, DCANP1, DDX46, EPIST, FNIP1, FSTL4, GDF9, HSPA4, IL13, IL3, IL4, IL5, IRF1, IRF1-AS1, JADE2, KIF3A, LEAP2, LINC01843, LINC02863, LINC02900, LINC02999, LOC105379176, LOC105379183, LOC107198087, LOC108281143, LOC108449898, LOC110121107, LOC110121118, LOC111500310, LOC112997558, LOC121079960, LOC121079961, LOC121079962, LOC121099701, LOC121099702, LOC123497968, LOC123497969, LOC123497970, LOC123497971, LOC123497972, LOC123497973, LOC123497974, LOC126807506, LOC126807507, LOC126807508, LOC126807509, LOC126807510, LOC126807511, LOC126807512, LOC126807513, LOC126807514, LOC126807515, LOC126807516, LOC126807517, LOC126807518, MACROH2A1, MEIKIN, MIR1289-2, MIR3661, MIR3936, MIR3936HG, MIR4461, MIR5692C1, MIR6830, NEUROG1, P4HA2, P4HA2-AS1, PCBD2, PDLIM4, PITX1, PITX1-AS1, PPP2CA, RAD50, RAPGEF6, SAR1B, SEC24A, SEPTIN8, SHROOM1, SKP1, SLC22A4, SLC22A5, SLC25A48, SLC25A48-AS1, SOWAHA, TCF7, TH2-LCR, TH2LCRR, TIFAB, TXNDC15, UBE2B, UQCRQ, VDAC1, WSPAR, ZCCHC10		See cases	Pathogenic (Jul 30, 2009)	no assertion criteria provided
Select item 583605.	GRCh38/hg38 5q31.1(chr5:132816203-135383158)x1 GRCh37: Chr5:132151895-134718848 GRCh38: Chr5:132816203-135383158	AFF4, C5orf15, C5orf24, CAMLG, CATSPER3, CDKL3, CDKN2AIPNL, DDX46, EPIST, FSTL4, GDF9, HSPA4, JADE2, LEAP2, LINC01843, LINC02900, LINC02999, LOC105379183, LOC111500310, LOC121079962, LOC121099701, LOC121099702, LOC123497970, LOC123497971, LOC123497972, LOC126807509, LOC126807510, LOC126807511, LOC126807512, LOC126807513, LOC126807514, LOC126807515, LOC126807516, LOC126807517, LOC126807518, MACROH2A1, MIR1289-2, MIR3661, MIR4461, PCBD2, PITX1, PITX1-AS1, PPP2CA, SAR1B, SEC24A, SHROOM1, SKP1, SOWAHA, TCF7, TXNDC15, UBE2B, UQCRQ, VDAC1, WSPAR, ZCCHC10		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 18977226.	NM_014423.4(AFF4):c.3480G>A (p.Lys1160_Leu1161=) GRCh37: Chr5:132216763 GRCh38: Chr5:132881071	AFF4		Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Likely benign (Aug 1, 2022)	criteria provided, single submitter
Select item 13070747.	NM_014423.4(AFF4):c.3466C>T (p.Arg1156Cys) GRCh37: Chr5:132216777 GRCh38: Chr5:132881085	AFF4	R1156C	not provided	Uncertain significance (Jul 11, 2019)	criteria provided, single submitter
Select item 7977238.	NM_014423.4(AFF4):c.3450G>A (p.Gln1150=) GRCh37: Chr5:132216793 GRCh38: Chr5:132881101	AFF4		Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Likely benign (Dec 31, 2019)	criteria provided, single submitter
Select item 20735289.	NM_014423.4(AFF4):c.3432A>T (p.Leu1144_Val1145=) GRCh37: Chr5:132216811 GRCh38: Chr5:132881119	AFF4		Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Likely benign (Oct 20, 2022)	criteria provided, single submitter
Select item 201214910.	NM_014423.4(AFF4):c.3414A>G (p.Ala1138_Ser1139=) GRCh37: Chr5:132216829 GRCh38: Chr5:132881137	AFF4		Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Likely benign (Jun 29, 2022)	criteria provided, single submitter
Select item 153585011.	NM_014423.4(AFF4):c.3411T>C (p.Asn1137=) GRCh37: Chr5:132216832 GRCh38: Chr5:132881140	AFF4		Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 129497712.	NM_014423.4(AFF4):c.3365-189G>T GRCh37: Chr5:132217067 GRCh38: Chr5:132881375	AFF4		not provided	Benign (May 23, 2021)	criteria provided, single submitter
Select item 128641013.	NM_014423.4(AFF4):c.3364+245G>T GRCh37: Chr5:132218787 GRCh38: Chr5:132883095	AFF4		not provided	Benign (May 8, 2021)	criteria provided, single submitter
Select item 126774914.	NM_014423.4(AFF4):c.3364+82T>C GRCh37: Chr5:132218950 GRCh38: Chr5:132883258	AFF4		not provided	Benign (May 23, 2021)	criteria provided, single submitter
Select item 155497215.	NM_014423.4(AFF4):c.3364+19A>G GRCh37: Chr5:132219013 GRCh38: Chr5:132883321	AFF4		Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 199286116.	NM_014423.4(AFF4):c.3364+7A>G GRCh37: Chr5:132219025 GRCh38: Chr5:132883333	AFF4		Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Uncertain significance (May 10, 2022)	criteria provided, single submitter
Select item 144385417.	NM_014423.4(AFF4):c.3353A>G (p.Lys1118Arg) GRCh37: Chr5:132219043 GRCh38: Chr5:132883351	AFF4	K1118R	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 165971318.	NM_014423.4(AFF4):c.3321C>T (p.Thr1107=) GRCh37: Chr5:132219075 GRCh38: Chr5:132883383	AFF4		Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Benign (Jul 13, 2021)	criteria provided, single submitter
Select item 190784819.	NM_014423.4(AFF4):c.3320C>T (p.Thr1107Ile) GRCh37: Chr5:132219076 GRCh38: Chr5:132883384	AFF4	T1107I	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 76693920.	NM_014423.4(AFF4):c.3319A>G (p.Thr1107Ala) GRCh37: Chr5:132219077 GRCh38: Chr5:132883385	AFF4	T1107A	not provided, Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Benign (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 77905921.	NM_014423.4(AFF4):c.3312C>G (p.Leu1104=) GRCh37: Chr5:132219084 GRCh38: Chr5:132883392	AFF4		not provided, Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Likely benign (Oct 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 130459022.	NM_014423.4(AFF4):c.3307T>A (p.Phe1103Ile) GRCh37: Chr5:132219089 GRCh38: Chr5:132883397	AFF4	F1103I	not provided	Uncertain significance (Jul 24, 2020)	criteria provided, single submitter
Select item 215291823.	NM_014423.4(AFF4):c.3274A>G (p.Met1092Val) GRCh37: Chr5:132219122 GRCh38: Chr5:132883430	AFF4	M1092V	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Uncertain significance (Jan 8, 2022)	criteria provided, single submitter
Select item 73525524.	NM_014423.4(AFF4):c.3261G>A (p.Gln1087=) GRCh37: Chr5:132219135 GRCh38: Chr5:132883443	AFF4		Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Likely benign (Nov 3, 2022)	criteria provided, single submitter
Select item 170309325.	NM_014423.4(AFF4):c.3256C>G (p.Pro1086Ala) GRCh37: Chr5:132219140 GRCh38: Chr5:132883448	AFF4	P1086A	not provided, Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Uncertain significance (Jun 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134648626.	NM_014423.4(AFF4):c.3218C>T (p.Ala1073Val) GRCh37: Chr5:132219178 GRCh38: Chr5:132883486	AFF4	A1073V	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Uncertain significance (Feb 5, 2022)	criteria provided, single submitter
Select item 70743427.	NM_014423.4(AFF4):c.3216G>A (p.Gly1072=) GRCh37: Chr5:132219180 GRCh38: Chr5:132883488	AFF4		Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 154650028.	NM_014423.4(AFF4):c.3207T>C (p.Tyr1069=) GRCh37: Chr5:132219189 GRCh38: Chr5:132883497	AFF4		Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Likely benign (Mar 31, 2021)	criteria provided, single submitter
Select item 141941429.	NM_014423.4(AFF4):c.3170T>C (p.Val1057Ala) GRCh37: Chr5:132219226 GRCh38: Chr5:132883534	AFF4	V1057A	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 196609030.	NM_014423.4(AFF4):c.3144-17C>T GRCh37: Chr5:132219269 GRCh38: Chr5:132883577	AFF4		Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 127136131.	NM_014423.4(AFF4):c.3144-52T>A GRCh37: Chr5:132219304 GRCh38: Chr5:132883612	AFF4		not provided, Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Benign (Dec 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 128906332.	NM_014423.4(AFF4):c.3144-132C>T GRCh37: Chr5:132219384 GRCh38: Chr5:132883692	AFF4		not provided	Benign (May 8, 2021)	criteria provided, single submitter
Select item 126246333.	NM_014423.4(AFF4):c.3143+20G>A GRCh37: Chr5:132220748 GRCh38: Chr5:132885056	AFF4		not provided, Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 162606634.	NM_014423.4(AFF4):c.3129G>T (p.Ser1043=) GRCh37: Chr5:132220782 GRCh38: Chr5:132885090	AFF4		Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 219881035.	NM_014423.4(AFF4):c.3128C>T (p.Ser1043Leu) GRCh37: Chr5:132220783 GRCh38: Chr5:132885091	AFF4	S1043L	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 136904036.	NM_014423.4(AFF4):c.3116C>T (p.Ser1039Phe) GRCh37: Chr5:132220795 GRCh38: Chr5:132885103	AFF4	S1039F	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 217474637.	NM_014423.4(AFF4):c.3109AAT[1] (p.Asn1038del) GRCh37: Chr5:132220797-132220799 GRCh38: Chr5:132885105-132885107	AFF4	N1038del	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 127920938.	NM_014423.4(AFF4):c.3100-158AC[11] GRCh37: Chr5:132220942-132220947 GRCh38: Chr5:132885250-132885255	AFF4		not provided	Benign (May 8, 2021)	criteria provided, single submitter
Select item 127505539.	NM_014423.4(AFF4):c.3100-158AC[12] GRCh37: Chr5:132220942-132220945 GRCh38: Chr5:132885250-132885253	AFF4		not provided	Benign (May 8, 2021)	criteria provided, single submitter
Select item 126038040.	NM_014423.4(AFF4):c.3100-158AC[13] GRCh37: Chr5:132220942-132220943 GRCh38: Chr5:132885250-132885251	AFF4		not provided	Benign (May 8, 2021)	criteria provided, single submitter
Select item 54221741.	NM_014423.4(AFF4):c.3099+2T>C GRCh37: Chr5:132222000 GRCh38: Chr5:132886308	AFF4		Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Uncertain significance (Dec 16, 2017)	criteria provided, single submitter
Select item 205506742.	NM_014423.4(AFF4):c.3054G>A (p.Lys1018_Glu1019=) GRCh37: Chr5:132222047 GRCh38: Chr5:132886355	AFF4		Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 219338643.	NM_014423.4(AFF4):c.3021T>C (p.Ser1007_Leu1008=) GRCh37: Chr5:132222080 GRCh38: Chr5:132886388	AFF4		Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Likely benign (May 20, 2022)	criteria provided, single submitter
Select item 202868444.	NM_014423.4(AFF4):c.3006-19G>A GRCh37: Chr5:132222114 GRCh38: Chr5:132886422	AFF4		Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Likely benign (Oct 20, 2022)	criteria provided, single submitter
Select item 158325445.	NM_014423.4(AFF4):c.3006-20C>T GRCh37: Chr5:132222115 GRCh38: Chr5:132886423	AFF4		Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 131473646.	NM_014423.4(AFF4):c.3005+2T>C GRCh37: Chr5:132223211 GRCh38: Chr5:132887519	AFF4		not provided	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 208912847.	NM_014423.4(AFF4):c.3003T>C (p.Leu1001_Cys1002=) GRCh37: Chr5:132223215 GRCh38: Chr5:132887523	AFF4		Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Likely benign (May 14, 2022)	criteria provided, single submitter
Select item 70754448.	NM_014423.4(AFF4):c.3000A>G (p.Val1000=) GRCh37: Chr5:132223218 GRCh38: Chr5:132887526	AFF4		Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Benign (Oct 19, 2022)	criteria provided, single submitter
Select item 135697749.	NM_014423.4(AFF4):c.2995A>G (p.Thr999Ala) GRCh37: Chr5:132223223 GRCh38: Chr5:132887531	AFF4	T999A	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 214392450.	NM_014423.4(AFF4):c.2934-20_2934-19dup GRCh37: Chr5:132223302-132223303 GRCh38: Chr5:132887610-132887611	AFF4		Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 70705751.	NM_014423.4(AFF4):c.2892A>G (p.Lys964=) GRCh37: Chr5:132223579 GRCh38: Chr5:132887887	AFF4		Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133814852.	NM_014423.4(AFF4):c.2817T>C (p.Ala939=) GRCh37: Chr5:132223654 GRCh38: Chr5:132887962	AFF4		not specified	Uncertain significance (Nov 29, 2021)	criteria provided, single submitter
Select item 217862153.	NM_014423.4(AFF4):c.2797-7T>G GRCh37: Chr5:132223681 GRCh38: Chr5:132887989	AFF4		Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Likely benign (May 24, 2022)	criteria provided, single submitter
Select item 201830454.	NM_014423.4(AFF4):c.2796+19del GRCh37: Chr5:132223770 GRCh38: Chr5:132888078	AFF4		Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Likely benign (Jul 20, 2022)	criteria provided, single submitter
Select item 134321655.	NM_014423.4(AFF4):c.2796+1G>A GRCh37: Chr5:132223788 GRCh38: Chr5:132888096	AFF4		Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Uncertain significance (Jul 12, 2021)	criteria provided, single submitter
Select item 147187156.	NM_014423.4(AFF4):c.2760A>G (p.Gln920=) GRCh37: Chr5:132223825 GRCh38: Chr5:132888133	AFF4		Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Likely benign (Feb 17, 2022)	criteria provided, single submitter
Select item 155030257.	NM_014423.4(AFF4):c.2733-7C>G GRCh37: Chr5:132223859 GRCh38: Chr5:132888167	AFF4		Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Likely benign (Jul 14, 2021)	criteria provided, single submitter
Select item 205780958.	NM_014423.4(AFF4):c.2733-9G>A GRCh37: Chr5:132223861 GRCh38: Chr5:132888169	AFF4		Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Likely benign (Jun 4, 2022)	criteria provided, single submitter
Select item 204310059.	NM_014423.4(AFF4):c.2724T>C (p.Phe908_Asp909=) GRCh37: Chr5:132224779 GRCh38: Chr5:132889087	AFF4		Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 217373960.	NM_014423.4(AFF4):c.2719G>A (p.Val907Ile) GRCh37: Chr5:132224784 GRCh38: Chr5:132889092	AFF4	V907I	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Uncertain significance (Oct 16, 2022)	criteria provided, single submitter
Select item 171949761.	NM_014423.4(AFF4):c.2705G>A (p.Arg902Gln) GRCh37: Chr5:132224798 GRCh38: Chr5:132889106	AFF4	R902Q	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Uncertain significance (Sep 24, 2022)	criteria provided, single submitter
Select item 169903162.	NM_014423.4(AFF4):c.2702C>T (p.Pro901Leu) GRCh37: Chr5:132224801 GRCh38: Chr5:132889109	AFF4	P901L	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 180573863.	NM_014423.4(AFF4):c.2678C>T (p.Ala893Val) GRCh37: Chr5:132224825 GRCh38: Chr5:132889133	AFF4	A893V	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Uncertain significance (May 21, 2020)	criteria provided, single submitter
Select item 77245764.	NM_014423.4(AFF4):c.2669C>T (p.Pro890Leu) GRCh37: Chr5:132224834 GRCh38: Chr5:132889142	AFF4	P890L	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Likely benign (May 30, 2022)	criteria provided, single submitter
Select item 169088965.	NM_014423.4(AFF4):c.2645C>T (p.Ala882Val) GRCh37: Chr5:132224858 GRCh38: Chr5:132889166	AFF4	A882V	See cases	Uncertain significance (Jun 1, 2020)	criteria provided, single submitter
Select item 242992866.	NM_014423.4(AFF4):c.2638-4_2638del GRCh37: Chr5:132224865-132224869 GRCh38: Chr5:132889173-132889177	AFF4		Autism spectrum disorder	Likely benign (Apr 13, 2022)	criteria provided, single submitter
Select item 202106867.	NM_014423.4(AFF4):c.2638-16A>G GRCh37: Chr5:132224881 GRCh38: Chr5:132889189	AFF4		Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Likely benign (Apr 22, 2022)	criteria provided, single submitter
Select item 156162368.	NM_014423.4(AFF4):c.2638-17del GRCh37: Chr5:132224882 GRCh38: Chr5:132889190	AFF4		Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 127113669.	NM_014423.4(AFF4):c.2637+179T>C GRCh37: Chr5:132227677 GRCh38: Chr5:132891985	AFF4		not provided	Benign (May 8, 2021)	criteria provided, single submitter
Select item 133559570.	NM_014423.4(AFF4):c.2637+32A>G GRCh37: Chr5:132227824 GRCh38: Chr5:132892132	AFF4		not provided	Likely benign (Nov 1, 2021)	criteria provided, single submitter
Select item 213039871.	NM_014423.4(AFF4):c.2637+20G>A GRCh37: Chr5:132227836 GRCh38: Chr5:132892144	AFF4		Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Likely benign (May 16, 2022)	criteria provided, single submitter
Select item 200729872.	NM_014423.4(AFF4):c.2637+8G>T GRCh37: Chr5:132227848 GRCh38: Chr5:132892156	AFF4		Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Likely benign (Jun 15, 2022)	criteria provided, single submitter
Select item 211790573.	NM_014423.4(AFF4):c.2624C>T (p.Ser875Phe) GRCh37: Chr5:132227869 GRCh38: Chr5:132892177	AFF4	S875F	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 204612874.	NM_014423.4(AFF4):c.2606G>A (p.Gly869Glu) GRCh37: Chr5:132227887 GRCh38: Chr5:132892195	AFF4	G869E	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Uncertain significance (Dec 22, 2021)	criteria provided, single submitter
Select item 156080075.	NM_014423.4(AFF4):c.2601C>T (p.Thr867=) GRCh37: Chr5:132227892 GRCh38: Chr5:132892200	AFF4		Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Likely benign (Oct 8, 2022)	criteria provided, single submitter
Select item 140401576.	NM_014423.4(AFF4):c.2590C>G (p.Gln864Glu) GRCh37: Chr5:132227903 GRCh38: Chr5:132892211	AFF4	Q864E	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Uncertain significance (Feb 9, 2022)	criteria provided, single submitter
Select item 133090977.	NM_014423.4(AFF4):c.2578T>G (p.Ser860Ala) GRCh37: Chr5:132227915 GRCh38: Chr5:132892223	AFF4	S860A	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Uncertain significance (Nov 11, 2021)	criteria provided, single submitter
Select item 214799478.	NM_014423.4(AFF4):c.2552C>T (p.Thr851Met) GRCh37: Chr5:132227941 GRCh38: Chr5:132892249	AFF4	T851M	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Uncertain significance (Oct 28, 2022)	criteria provided, single submitter
Select item 157226079.	NM_014423.4(AFF4):c.2529A>G (p.Ser843=) GRCh37: Chr5:132227964 GRCh38: Chr5:132892272	AFF4		Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Benign (Jul 13, 2021)	criteria provided, single submitter
Select item 219980280.	NM_014423.4(AFF4):c.2507G>A (p.Ser836Asn) GRCh37: Chr5:132227986 GRCh38: Chr5:132892294	AFF4	S836N	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 49341681.	NM_014423.4(AFF4):c.2491C>T (p.Arg831Trp) GRCh37: Chr5:132228002 GRCh38: Chr5:132892310	AFF4	R831W	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome, not provided	Uncertain significance (May 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 168638782.	NM_014423.4(AFF4):c.2485G>C (p.Gly829Arg) GRCh37: Chr5:132228008 GRCh38: Chr5:132892316	AFF4	G829R	not specified	Benign (May 4, 2022)	criteria provided, single submitter
Select item 77260883.	NM_014423.4(AFF4):c.2470C>T (p.Pro824Ser) GRCh37: Chr5:132228023 GRCh38: Chr5:132892331	AFF4	P824S	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Likely benign (Sep 12, 2022)	criteria provided, single submitter
Select item 134762684.	NM_014423.4(AFF4):c.2446G>A (p.Ala816Thr) GRCh37: Chr5:132228047 GRCh38: Chr5:132892355	AFF4	A816T	Inborn genetic diseases, Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Conflicting interpretations of pathogenicity (Sep 1, 2022)	criteria provided, conflicting interpretations
Select item 43410185.	NM_014423.4(AFF4):c.2445C>T (p.Pro815=) GRCh37: Chr5:132228048 GRCh38: Chr5:132892356	AFF4		Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome, not specified	Benign/Likely benign (Sep 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 160178486.	NM_014423.4(AFF4):c.2397-14G>A GRCh37: Chr5:132228110 GRCh38: Chr5:132892418	AFF4		Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Benign (Nov 1, 2022)	criteria provided, single submitter
Select item 124892087.	NM_014423.4(AFF4):c.2397-37T>C GRCh37: Chr5:132228133 GRCh38: Chr5:132892441	AFF4		Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome, not provided	Benign (Dec 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 132964988.	NM_014423.4(AFF4):c.2389A>G (p.Asn797Asp) GRCh37: Chr5:132228729 GRCh38: Chr5:132893037	AFF4	N797D	not provided	Uncertain significance (Jun 26, 2021)	criteria provided, single submitter
Select item 170887589.	NM_014423.4(AFF4):c.2362A>C (p.Asn788His) GRCh37: Chr5:132228756 GRCh38: Chr5:132893064	AFF4	N788H	not provided	Uncertain significance (Apr 5, 2022)	criteria provided, single submitter
Select item 44466190.	NM_014423.4(AFF4):c.2359A>G (p.Lys787Glu) GRCh37: Chr5:132228759 GRCh38: Chr5:132893067	AFF4	K787E	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome, not provided	Uncertain significance (Sep 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 203445191.	NM_014423.4(AFF4):c.2351C>T (p.Thr784Met) GRCh37: Chr5:132228767 GRCh38: Chr5:132893075	AFF4	T784M	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 214864092.	NM_014423.4(AFF4):c.2344C>T (p.Pro782Ser) GRCh37: Chr5:132228774 GRCh38: Chr5:132893082	AFF4	P782S	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 243891393.	NM_014423.4(AFF4):c.2324G>C (p.Arg775Pro) GRCh37: Chr5:132228794 GRCh38: Chr5:132893102	AFF4	R775P	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Uncertain significance (Oct 25, 2019)	criteria provided, single submitter
Select item 162578194.	NM_014423.4(AFF4):c.2308-6A>G GRCh37: Chr5:132228816 GRCh38: Chr5:132893124	AFF4		Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Likely benign (May 12, 2021)	criteria provided, single submitter
Select item 153090395.	NM_014423.4(AFF4):c.2308-13A>G GRCh37: Chr5:132228823 GRCh38: Chr5:132893131	AFF4		Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Benign (Oct 25, 2022)	criteria provided, single submitter
Select item 127385996.	NM_014423.4(AFF4):c.2308-173C>T GRCh37: Chr5:132228983 GRCh38: Chr5:132893291	AFF4		not provided	Benign (May 8, 2021)	criteria provided, single submitter
Select item 193221697.	NM_014423.4(AFF4):c.2307+18del GRCh37: Chr5:132231997 GRCh38: Chr5:132896305	AFF4		Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 148793698.	NM_014423.4(AFF4):c.2303A>G (p.His768Arg) GRCh37: Chr5:132232019 GRCh38: Chr5:132896327	AFF4	H768R	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Uncertain significance (Jun 11, 2022)	criteria provided, single submitter
Select item 243028899.	NM_014423.4(AFF4):c.2281T>C (p.Ser761Pro) GRCh37: Chr5:132232041 GRCh38: Chr5:132896349	AFF4	S761P	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	not provided	no assertion provided
Select item 1991156100.	NM_014423.4(AFF4):c.2277A>C (p.Lys759Asn) GRCh37: Chr5:132232045 GRCh38: Chr5:132896353	AFF4	K759N	Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome	Uncertain significance (Jun 7, 2022)	criteria provided, single submitter

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