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Items: 65

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
SLC5A5Thyroid dyshormonogenesis 1Pathogenic
(Aug 1, 2002)
no assertion criteria provided
2.
GRCh37:
Chr19:17982945
GRCh38:
Chr19:17872136
SLC5A5Thyroid Hormonogenesis DefectUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
3.
GRCh37:
Chr19:17983022
GRCh38:
Chr19:17872213
SLC5A5Thyroid Hormonogenesis DefectUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr19:17983059
GRCh38:
Chr19:17872250
SLC5A5Thyroid Hormonogenesis DefectUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr19:17983076
GRCh38:
Chr19:17872267
SLC5A5Thyroid Hormonogenesis DefectUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr19:17983093
GRCh38:
Chr19:17872284
SLC5A5Thyroid Hormonogenesis DefectUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr19:17983105
GRCh38:
Chr19:17872296
SLC5A5Thyroid Hormonogenesis DefectLikely benign
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr19:17983380
GRCh38:
Chr19:17872571
SLC5A5Thyroid Hormonogenesis DefectUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr19:17983405
GRCh38:
Chr19:17872596
SLC5A5Thyroid dyshormonogenesis 1Pathogenic
(Sep 1, 1998)
no assertion criteria provided
10.
GRCh37:
Chr19:17983458
GRCh38:
Chr19:17872649
SLC5A5Thyroid Hormonogenesis DefectUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr19:17983490
GRCh38:
Chr19:17872681
SLC5A5Thyroid Hormonogenesis DefectUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr19:17985291
GRCh38:
Chr19:17874482
SLC5A5Thyroid Hormonogenesis DefectUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr19:17986880
GRCh38:
Chr19:17876071
SLC5A5Thyroid Hormonogenesis DefectUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr19:17988632
GRCh38:
Chr19:17877823
SLC5A5Thyroid dyshormonogenesis 1Pathogenic
(Mar 1, 1998)
no assertion criteria provided
15.
GRCh37:
Chr19:17988649
GRCh38:
Chr19:17877840
SLC5A5Thyroid dyshormonogenesis 1Pathogenic
(Nov 17, 1997)
no assertion criteria provided
16.
GRCh37:
Chr19:17988683
GRCh38:
Chr19:17877874
SLC5A5not specifiedBenigncriteria provided, single submitter
17.
GRCh37:
Chr19:17992770
GRCh38:
Chr19:17881961
SLC5A5Thyroid dyshormonogenesis 1Pathogenic
(Nov 1, 1998)
no assertion criteria provided
18.
GRCh37:
Chr19:17992969
GRCh38:
Chr19:17882160
SLC5A5Thyroid dyshormonogenesis 1Pathogenic
(Sep 1, 1999)
no assertion criteria provided
19.
GRCh37:
Chr19:17993010
GRCh38:
Chr19:17882201
SLC5A5Thyroid Hormonogenesis DefectUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr19:17994561
GRCh38:
Chr19:17883752
SLC5A5Thyroid Hormonogenesis DefectUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr19:17994573
GRCh38:
Chr19:17883764
SLC5A5not specified, Thyroid Hormonogenesis DefectBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr19:17994594
GRCh38:
Chr19:17883785
SLC5A5not specifiedBenigncriteria provided, single submitter
23.
GRCh37:
Chr19:17994641
GRCh38:
Chr19:17883832
SLC5A5not specifiedBenigncriteria provided, single submitter
24.
GRCh37:
Chr19:17994644
GRCh38:
Chr19:17883835
SLC5A5not specified, Thyroid Hormonogenesis DefectBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr19:17994835
GRCh38:
Chr19:17884026
SLC5A5Thyroid Hormonogenesis DefectUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr19:17994836
GRCh38:
Chr19:17884027
SLC5A5not provided, Thyroid Hormonogenesis DefectBenign/Likely benign
(Oct 11, 2016)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr19:17999206
GRCh38:
Chr19:17888397
SLC5A5Thyroid dyshormonogenesis 1Pathogenic
(Mar 1, 1998)
no assertion criteria provided
28.
GRCh37:
Chr19:17999239
GRCh38:
Chr19:17888430
SLC5A5Thyroid Hormonogenesis DefectUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr19:17999241
GRCh38:
Chr19:17888432
SLC5A5Thyroid dyshormonogenesis 1Pathogenic
(Sep 1, 1998)
no assertion criteria provided
30.
GRCh37:
Chr19:17999245
GRCh38:
Chr19:17888436
SLC5A5Thyroid Hormonogenesis DefectUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr19:18001686
GRCh38:
Chr19:17890877
SLC5A5not specified, Thyroid Hormonogenesis DefectBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr19:18004700
GRCh38:
Chr19:17893891
SLC5A5Thyroid Hormonogenesis DefectUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr19:18004816
GRCh38:
Chr19:17894007
SLC5A5Thyroid Hormonogenesis DefectUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
34.
GRCh37:
Chr19:18004822
GRCh38:
Chr19:17894013
SLC5A5Thyroid Hormonogenesis DefectUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
35.
GRCh37:
Chr19:18004847
GRCh38:
Chr19:17894038
SLC5A5Thyroid Hormonogenesis DefectUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr19:18004912
GRCh38:
Chr19:17894103
SLC5A5Thyroid Hormonogenesis DefectLikely benign
(Jun 14, 2016)
criteria provided, single submitter
37.
GRCh37:
Chr19:18004924
GRCh38:
Chr19:17894115
SLC5A5Thyroid Hormonogenesis DefectUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr19:18004925
GRCh38:
Chr19:17894116
SLC5A5Thyroid Hormonogenesis DefectUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
39.
GRCh37:
Chr19:18004925
GRCh38:
Chr19:17894116
SLC5A5Thyroid Hormonogenesis DefectUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
40.
GRCh37:
Chr19:18004942
GRCh38:
Chr19:17894133
SLC5A5Thyroid Hormonogenesis DefectUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
41.
GRCh37:
Chr19:18004944
GRCh38:
Chr19:17894135
SLC5A5Thyroid Hormonogenesis DefectUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr19:18004947
GRCh38:
Chr19:17894138
SLC5A5Thyroid Hormonogenesis DefectUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
43.
GRCh37:
Chr19:18004949
GRCh38:
Chr19:17894140
SLC5A5Thyroid Hormonogenesis DefectUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
44.
GRCh37:
Chr19:18004962-18004963
GRCh38:
Chr19:17894153-17894154
SLC5A5Thyroid Hormonogenesis DefectUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
45.
GRCh37:
Chr19:18004962-18004963
GRCh38:
Chr19:17894153-17894154
SLC5A5Thyroid Hormonogenesis DefectLikely benign
(Jun 14, 2016)
criteria provided, single submitter
46.
GRCh37:
Chr19:18004963
GRCh38:
Chr19:17894154
SLC5A5Thyroid Hormonogenesis DefectUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
47.
GRCh37:
Chr19:18004975
GRCh38:
Chr19:17894166
SLC5A5Thyroid Hormonogenesis DefectUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
48.
GRCh37:
Chr19:18005025
GRCh38:
Chr19:17894216
SLC5A5Thyroid Hormonogenesis DefectUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
49.
GRCh37:
Chr19:18005029
GRCh38:
Chr19:17894220
SLC5A5Thyroid Hormonogenesis DefectUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
50.
GRCh37:
Chr19:18005030
GRCh38:
Chr19:17894221
SLC5A5Thyroid Hormonogenesis DefectUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
51.
GRCh37:
Chr19:18005108
GRCh38:
Chr19:17894299
SLC5A5Thyroid Hormonogenesis DefectUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
52.
GRCh37:
Chr19:18005261
GRCh38:
Chr19:17894452
SLC5A5Thyroid Hormonogenesis DefectUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
53.
GRCh37:
Chr19:18005292
GRCh38:
Chr19:17894483
SLC5A5Thyroid Hormonogenesis DefectUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
54.
GRCh37:
Chr19:18005432
GRCh38:
Chr19:17894623
SLC5A5Thyroid Hormonogenesis DefectUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
55.
GRCh37:
Chr19:18005512
GRCh38:
Chr19:17894703
SLC5A5Thyroid Hormonogenesis DefectUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
56.
GRCh37:
Chr19:18005516
GRCh38:
Chr19:17894707
SLC5A5Thyroid Hormonogenesis DefectUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
57.
GRCh37:
Chr19:18005583
GRCh38:
Chr19:17894774
SLC5A5Thyroid Hormonogenesis DefectUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
58.
GRCh37:
Chr19:18005584
GRCh38:
Chr19:17894775
SLC5A5Thyroid Hormonogenesis DefectUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
59.
GRCh37:
Chr19:18005903
GRCh38:
Chr19:17895094
SLC5A5Thyroid Hormonogenesis DefectUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
60.
GRCh37:
Chr19:260912-58956888
A1BG, ACP5, ACTN4, AP2A1, AES, AKT2, AMH, APLP1, APOC1, APOC2, APOC4, APOE, KLK3, ASNA1, ATP1A3, ATP4A, ATP5F1D, AXL, AZU1, BAX, BCAT2, BCKDHA, BCL3, HCN2, CEACAM1, BLVRB, BSG, BST2, C3, C5AR1, CA11, CACNA1A, CALM3, CALR, CAPNS1, CAPS, CCNE1, CD22, CD33, SIGLEC6, CD37, CD70, CD79A, ADGRE5, CDC34, CDKN2D, CEACAM5, CEBPA, CEBPG, CGB3, CEACAM3, CEACAM7, CEACAM8, CEACAM4, CIRBP, TBCB, CKM, AP2S1, CLC, CLPTM1, CNN1, CNN2, COMP, COX6B1, COX7A1, CRX, CSNK1G2, NCAN, CYP2A6, CYP2A7, CYP2A13, CYP2B6, CYP2F1, DAPK3, DBP, CFD, DHPS, DMPK, DMWD, DNASE2, DNM2, DNMT1, ARID3A, ECH1, EEF2, EFNA2, MEGF8, ELANE, ELAVL1, ELAVL3, EMP3, ADGRE1, EPOR, NR2F6, ERCC1, ERCC2, ERF, FBL, ETFB, ETV2, FARSA, FCAR, FCER2, FCGRT, FLT3LG, FOSB, FPR1, FPR2, FPR3, FTL, FUT1, FUT2, FUT3, FUT5, FUT6, GAMT, GCDH, GDF1, GIPR, GNA11, GNA15, GNG7, GPI, GPR4, GPR32, FFAR1, FFAR3, GPR42, FFAR2, MKNK2, GPX4, GRIK5, GRIN2D, ARHGAP35, GSK3A, GTF2F1, GYS1, GZMM, HAS1, FOXA3, HNRNPL, HPN, HRC, PRMT1, DNAJB1, ICAM1, ICAM3, ICAM4, IL11, IL12RB1, ILF3, INSL3, INSR, IRF3, JAK3, JUNB, JUND, KCNA7, KCNC3, KCNJ14, KCNN1, KCNN4, KIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KLK1, KLK2, LAIR1, LAIR2, LDLR, LGALS4, LGALS7, LHB, LIG1, LIM2, LIPE, LRP3, CYP4F3, BCAM, LYL1, MAG, MAN2B1, MATK, RAB8A, MAP3K10, MLLT1, MYO1F, MYBPC2, GADD45B, MYO9B, HNRNPM, CEACAM6, NDUFA3, NDUFA7, NDUFB7, NFIC, NFIX, NFKBIB, NKG7, CNOT3, NOTCH3, NOVA2, NPAS1, NPHS1, NRTN, NTF4, NUCB1, OAZ1, P2RY11, PAFAH1B3, PALM, PDE4A, PDE4C, PEG3, PEPD, PIK3R2, PIN1, PLAUR, FXYD1, FXYD3, POLD1, POLR2E, POLR2I, POLRMT, POU2F2, PPP2R1A, PPP5C, PRKACA, PRKCG, PKN1, PRKCSH, MAP2K2, MAP2K7, PSPN, PRRG2, KLK7, KLK6, KLK10, PRTN3, PSG1, PSG2, PSG3, PSG4, PSG5, PSG6, PSG7, PSG9, PSG11, PSMC4, PSMD8, PTBP1, PTGER1, PTGIR, PTPRH, PTPRS, PVR, NECTIN2, RAB3A, RAD23A, RELB, UPF1, RFX1, RFX2, RPL18, RPL18A, RPL28, MRPS12, RPS5, RPS9, RPS11, RPS15, RPS16, RPS19, RPS28, RRAS, RTN2, RYR1, SAFB, CLEC11A, SCN1B, CCL25, SELENOW, SGTA, SH3GL1, SLC1A5, SLC1A6, SLC5A5, SLC8A2, SMARCA4, SNAPC2, SNRNP70, SNRPA, SNRPD2, SPIB, STK11, AURKC, STXBP2, SULT2B1, SULT2A1, SUPT5H, SYT5, TBXA2R, TCF3, PRDX2, TGFB1, THOP1, ICAM5, TLE2, TNNI3, TNNT1, TPM4, TRU-TCA1-1, TULP2, TYK2, TYROBP, UBA52, NR1H2, UQCRFS1, USF2, VASP, VAV1, XRCC1, ZFP36, ZNF8, ZNF14, ZNF708, ZNF17, ZNF20, ZNF28, ZNF43, ZNF45, ZNF69, ZNF221, ZNF85, ZNF90, ZNF91, ZNF99, ZNF222, ZNF121, ZNF132, ZNF134, ZNF135, ZNF136, ZNF146, ZNF154, ZNF155, ZNF175, ZNF177, ZNF180, ZNF208, ZNF223, ZNF224, ZNF225, ZNF226, ZNF227, ZNF112, ZNF229, ZNF230, MADCAM1, SF3A2, ELL, SYMPK, MIA, CLPP, DPF1, LTBP4, TEAD2, RANBP3, CYP4F2, PPFIA3, KHSRP, PLA2G4C, PLPP2, RFXANK, EIF3G, STX10, S1PR4, URI1, TNFSF14, TNFSF9, NAPA, SIGLEC5, FCGBP, AP1M1, AP3D1, PGLYRP1, F2RL3, ARHGEF1, PDCD5, DYRK1B, LPAR2, RAB11B, CRLF1, NUMBL, CYTH2, S1PR2, ZNF235, TRIP10, LONP1, ZNF264, KCNK6, NCR1, MED26, HOMER3, IL27RA, NAPSA, GDF15, TECR, ZNF254, GMFG, RAB3D, APBA3, IER2, KLK4, SAFB2, ZNF432, DHX34, KIAA0355, ZNF536, KMT2B, KEAP1, MED16, CHAF1A, SH2D3A, AP1M2, UBA2, SAE1, SUGP2, EBI3, ZNF256, DDX39A, ZNF443, PLIN3, AKAP8, FSTL3, LILRB2, APC2, PAK4, B3GNT3, CLEC4M, ABCA7, HMG20B, KLF2, TUBB4A, TMEM147, IFI30, TOMM40, TIMM44, CARM1, SEMA6B, ZNF211, CHERP, RNASEH2A, RABAC1, SPINT2, KLF1, DLL3, CERS1, GIPC1, POP4, ZNF234, ZNF266, ZNF274, ZNF460, PPP1R13L, CD3EAP, RUVBL2, LILRB1, HCST, PNPLA6, KDELR1, UQCR11, LILRB5, ILVBL, LILRB4, KLK11, TMED1, LILRA1, LILRB3, LILRA3, LILRA2, UPK1A, HNRNPUL1, CLASRP, KPTN, SLC7A9, CDC37, MAP4K1, KLK8, CYP4F8, PNKP, COPE, U2AF2, ATF5, ZFP30, ZNF507, ADGRL1, PPP6R1, CARD8, SBNO2, SIRT2, MAST1, UNC13A, KDM4B, MAST3, SIPA1L3, FCHO1, CIC, ZC3H4, ZFR2, SIN3B, HAUS5, ARHGEF18, CRTC1, MAU2, PIP5K1C, FBXO46, ETHE1, BRD4, RPL13A, ARHGAP45, SYNGR4, LILRA4, PRG1, CASP14, ZIM2, CBLC, NUP62, HSPBP1, PPP1R15A, PLD3, FKBP8, EML2, SHC2, TMEM59L, PGLS, LSM4, KLK5, ZNF345, PRKD2, RPL36, ZNF473, KANK2, CLIP3, FAM32A, LSM14A, KLK13, CCDC9, PRPF31, IRF2BP1, FGF21, GAPDHS, OR7A17, TIMM13, TSPAN16, DAZAP1, OR10H3, OR10H2, OR10H1, OR7E24, OR7C2, OR7A5, OR7C1, ZNF285, AKAP8L, FGF22, ZBTB32, SIGLEC7, LYPD3, ARRDC2, BBC3, DKKL1, TJP3, CPAMD8, SIGLEC9, SIGLEC8, C5AR2, NMRK2, DHDH, ZNF544, EIF3K, UBE2S, SLC6A16, C19orf53, BABAM1, LGALS13, UHRF1, CYP2S1, TFPT, STRN4, CCDC106, HOOK2, EPN1, SERTAD3, SERTAD1, SLC39A3, NOP53, BICRA, TNPO2, ADGRE2, CD209, EHD2, KLK14, KLK12, COL5A3, RDH8, SHANK1, NOSIP, MRPL4, NDUFA13, ANGPTL4, ZNF580, HSD17B14, GP6, VRK3, MARCH2, ZNF571, GMIP, CD320, ECSIT, THEG, ZBTB7A, FZR1, WDR83OS, ISYNA1, ZNF581, SIRT6, PIAS4, LSR, LSM7, ZNF44, TM6SF2, MBD3, PTOV1, S1PR5, FXYD7, FXYD5, RAB4B, MIER2, DDX49, PAF1, PCSK4, PPP1R12C, TRPM4, ZNF586, ZNF562, QPCTL, GATAD2A, BEST2, FBXL12, FAM83E, PGPEP1, CC2D1A, EPS8L1, RASIP1, TMEM161A, SARS2, TMEM160, C19orf24, PIH1D1, REX1BD, GPATCH1, SAMD4B, DMAC2, PLEKHJ1, C19orf73, MAP1S, PNMA8A, TMEM143, KLHL26, ZNF444, C19orf66, ZNF331, FEM1A, ZNF823, KLK15, MED29, STAP2, TRMT1, BTBD2, NLRP2, RNF126, ZNF416, CCDC94, ASF1B, ZNF701, ZNF83, ZNF415, USE1, PSENEN, ZNF302, ANGPTL8, LIN37, MYDGF, SMG9, ZNF253, IRGC, SLC7A10, PPAN, CABP5, RETN, SPHK2, LGALS14, EXOSC5, MEIS3, NCLN, GPR108, SPPL2B, DUS3L, XAB2, SHD, CEACAM19, SLC17A7, NAT14, CD177, ATP13A1, RGL3, SLC44A2, VN1R1, MCOLN1, RCN3, ZNF304, TTYH1, WDR18, REXO1, PNMA8B, ZNF490, PRR12, DOCK6, ZNF471, ZNF492, TSHZ3, LRFN1, GRAMD1A, CAMSAP3, USP29, PLEKHA4, ZFP14, ZNF317, ZNF529, PRX, ANO8, SPTBN4, MARK4, SUGP1, HAMP, CATSPERG, CYP4F11, ZNF71, ZNF77, SCAF1, CACTIN, PRODH2, EPS15L1, WIZ, CACNG8, CACNG7, CACNG6, UBL5, ZNF350, TSKS, CELF5, ZNF667, DMRTC2, C19orf33, ELSPBP1, LIN7B, HIF3A, CHST8, ZNF574, PLEKHG2, RASAL3, MRPL34, KRI1, ZSWIM4, ZNF649, ZSCAN18, CYP4F12, YIPF2, TRIR, DDA1, KXD1, TMEM38A, TSEN34, KCTD15, SLC25A23, SMIM7, ZNF426, TRAPPC6A, MBOAT7, FKRP, ZSCAN5A, PLEKHF1, LENG1, LILRA6, RBM42, C19orf57, ZNF576, FSD1, ZNF557, LRFN3, ABHD8, CERS4, OCEL1, ZNF329, COLGALT1, IGFLR1, TBC1D17, ZNF419, GEMIN7, ISOC2, MYH14, ZNF665, TLE6, ZNF552, EPHX3, PODNL1, ZNF671, ZNF613, COQ8B, CNTD2, SLC35E1, PLPPR3, DENND1C, ZNF442, ZNF556, ZNF606, ZNF614, LRRC8E, FUZ, OPA3, ZNF430, ITPKC, UBXN6, PBX4, IQCN, B9D2, RSPH6A, CCDC130, ACSBG2, ADAMTS10, ZNF611, MED25, QTRT1, ABHD17A, ZNF93, DOHH, PLVAP, RTBDN, BCL2L12, C19orf12, TEX101, GRWD1, ANGPTL6, KLF16, USHBP1, WDR87, TSSK6, CCDC8, KIRREL2, ANKRD27, PRAM1, C19orf44, ZNF541, MRI1, SYT3, FBXW9, ALKBH7, WDR83, PDCD2L, ZNF414, AKT1S1, ELOF1, ZNF528, DOT1L, BRSK1, ZNF333, FBN3, ZNF527, CNFN, ZNF559, KISS1R, ADGRE3, ZNF347, CREB3L3, GTPBP3, ZNF577, MPV17L2, ZNF607, KMT5C, C19orf48, NFKBID, LMNB2, RAX2, CEP89, ZNF382, ZNF587, FIZ1, ZNF566, MUM1, HSH2D, MPND, ALKBH6, ATG4D, ATCAY, SYDE1, RHPN2, MBD3L1, GALP, SIGLEC10, SIGLEC12, ZNF628, MIDN, ZNF30, ZNF551, CEACAM21, ZNF616, ZNF766, CCDC97, EXOC3L2, ZNF468, ZNF160, CTU1, SAMD1, DCAF15, GADD45GIP1, ZNF835, YIF1B, ZNF799, TIMM29, ZNF625, ZNF700, ZNF439, ZNF486, DPP9, ZNF682, R3HDM4, TMEM259, FAAP24, TDRD12, ZNF765, NLRP12, MYADM, ZNF845, TPGS1, ZNF461, ZNF585B, CRB3, TIMM50, SHKBP1, REEP6, PEX11G, DMKN, ZNF561, OLFM2, CCDC114, HAUS8, MVB12A, ARMC6, ACP4, CGB5, MUC16, CGB7, LRRC4B, ZNF101, LENG9, CGB8, GNG8, PPP1R14A, EGLN2, BIRC8, FAM71E1, RDH13, FDX1L, NACC1, PTH2, IZUMO4, SCAMP4, ADAT3, ZNF257, ZIM3, SIGLEC11, CGB1, CGB2, PGLYRP2, LMTK3, LENG8, CCDC124, ZNF554, FBXO17, KIR3DL3, ARHGAP33, EVI5L, RASGRP4, NXNL1, CCDC151, ZNF653, ZNF526, ZNF837, GRIN3B, MRPL54, LRG1, CIB3, RLN3, CLDND2, ZNF816, ZNF543, CEACAM20, RAVER1, OR7D4, OR7G1, OR1M1, COX6B2, CALR3, ACER1, C19orf70, MBD3L2, TRAPPC5, PCP2, OSCAR, ZNF813, ZNF441, ZNF491, ZNF440, SWSAP1, CCDC159, JOSD2, IZUMO2, CPT1C, ALDH16A1, NTN5, NLRP13, NLRP8, NLRP5, ZNF787, ZNF573, WDR88, TMIGD2, EID2B, TNFAIP8L1, IRGQ, ZNF428, JSRP1, MOB3A, MFSD12, GIPC3, NDUFA11, MISP, LRRC25, OR1I1, WTIP, ZNF792, NR2C2AP, HSPB6, CCDC105, CYP4F22, RINL, FBXO27, PLK5, C19orf47, OR10H4, ANKLE1, C2CD4C, ZNF358, ZFP28, VSIG10L, ZNF480, ZNF534, ZNF578, ERVV-1, SMIM17, C19orf18, ZNF418, ZNF417, ZNF548, PPM1N, KLC3, IGSF23, LYPD4, ZNF560, TMEM190, HIPK4, TMC4, ZNF524, ZNF784, ZNF563, SPC24, CCDC155, DACT3, SIX5, IGFL2, ZNF420, ZNF565, NLRP4, ZNF582, ZNF583, FAM98C, CAPN12, DPY19L3, LGALS16, TTC9B, TICAM1, ZNRF4, ZNF599, FAM187B, CILP2, PROSER3, ZNF558, CDC42EP5, ZNF98, ZNF714, ZNF681, C19orf25, ATP8B3, DIRAS1, ZNF555, ZNF569, ZNF570, ZNF836, ZNF610, ZNF600, ZNF320, ZNF497, ZNF550, ZNF296, DEDD2, ZNF846, OR7D2, ZNF579, ZNF791, ZNF564, ZNF709, ZNF433, ZNF114, ZNF567, ZNF383, ZNF781, EID2, ZNF780B, PRR22, LGI4, SYNE4, ZNF676, ZNF100, ZNF540, SSBP4, ZNF431, ANKRD24, SPACA4, ZNF675, MCEMP1, ZNF627, DAND5, ZNF585A, NLRP7, GGN, CADM4, THAP8, U2AF1L4, ZNF626, FAM129C, ADM5, ZNF584, ZSCAN4, NLRP11, TMEM86B, CBARP, INAFM1, C19orf38, ZNF549, SYCE2, KANK3, TINCR, CATSPERD, IL4I1, IFNL2, IFNL3, IFNL1, SSC5D, ZNF547, ZIK1, ZNF776, ZSCAN1, ZNF780A, C19orf54, PRR19, TMEM145, CXCL17, ZNF575, LYPD5, ZNF283, PPP1R37, NKPD1, TPRX1, MAMSTR, IZUMO1, EMC10, KLK9, SIGLECL1, ZNF615, ZNF841, ACTL9, OR2Z1, ZNF763, ZNF844, SCGB2B2, WDR62, ZFP82, VSTM1, TMEM150B, FAM71E2, SMIM24, SLC25A41, MBD3L5, OR10H5, NWD1, SLC25A42, ZNF493, ODF3L2, HKR1, VN1R2, VN1R4, NLRP9, ZNF181, ZNF260, ZNF546, MYPOP, NANOS2, ADAMTSL5, CLEC4G, VSTM2B, ZNF850, NCCRP1, SYCN, LEUTX, ZNF404, ZNF284, C19orf81, ZNF677, RFPL4A, ZSCAN5B, ZSCAN22, NANOS3, PALM3, SELENOV, ZNF530, DNAAF3, ZNF429, ZNF233, LILRA5, TMPRSS9, NDUFS7, PEAK3, HSD11B1L, TEX45, ZNF699, TMEM205, YJEFN3, SBSN, ZNF829, ZNF568, B3GNT8, IGFL1, ZSWIM9, ZNF773, SLC27A1, CLEC17A, ZNF728, RGS9BP, KRTDAP, ZNF790, CEACAM16, BLOC1S3, IGFL3, ZNF808, ZNF888, ZNF761, TMEM238, ZNF470, ZNF749, ONECUT3, OR7G2, OR7G3, OR7A10, NUDT19, ZNF793, ACP7, PINLYP, ZNF805, SPRED3, MEX3D, PRSS57, VMAC, LOC400706, ZNF880, ZNF772, IGLON5, HAPLN4, CTXN1, MIRLET7E, MIR125A, MIR150, MIR181C, MIR199A1, MIR23A, MIR24-2, MIR27A, MIR99B, PLIN5, ZNF506, PSG8, TARM1, MIR371A, MIR372, MIR373, IGFL4, DPRX, DUXA, ASPDH, MIR519D, MIR520H, TMEM91, SDHAF1, LINGO3, ARRDC5, C19orf67, SBK2, UCA1, LGALS7B, PHLDB3, MBD3L4, MBD3L3, PPAN-P2RY11, OVOL3, PLIN4, CCDC61, ZNF878, CEACAM18, SHISA7, RFPL4AL1, BORCS8, ZNF814, ZNF726, SIGLEC14, ZGLP1, C19orf71, ZNF730, ZNF737, TMEM221, BSPH1, PET100, SRRM5, ERICH4, ERVV-2, MEF2B, ZNF729, ZNF587B, MIR1909, PPP5D1, ZNF865, LOC100507551, TGFBR3L, LOC100507646, ERVK3-1, ZNF559-ZNF177, ZNF816-ZNF321P, PTOV1-AS2, ZIM2-AS1
See casesPathogenic
(Jul 14, 2015)
no assertion criteria provided
61.
GRCh37:
Chr19:260912-58956888
A1BG, ACP5, ACTN4, AP2A1, AES, AKT2, AMH, APLP1, APOC1, APOC2, APOC4, APOE, KLK3, ASNA1, ATP1A3, ATP4A, ATP5F1D, AXL, AZU1, BAX, BCAT2, BCKDHA, BCL3, HCN2, CEACAM1, BLVRB, BSG, BST2, C3, C5AR1, CA11, CACNA1A, CALM3, CALR, CAPNS1, CAPS, CCNE1, CD22, CD33, SIGLEC6, CD37, CD70, CD79A, ADGRE5, CDC34, CDKN2D, CEACAM5, CEBPA, CEBPG, CGB3, CEACAM3, CEACAM7, CEACAM8, CEACAM4, CIRBP, TBCB, CKM, AP2S1, CLC, CLPTM1, CNN1, CNN2, COMP, COX6B1, COX7A1, CRX, CSNK1G2, NCAN, CYP2A6, CYP2A7, CYP2A13, CYP2B6, CYP2F1, DAPK3, DBP, CFD, DHPS, DMPK, DMWD, DNASE2, DNM2, DNMT1, ARID3A, ECH1, EEF2, EFNA2, MEGF8, ELANE, ELAVL1, ELAVL3, EMP3, ADGRE1, EPOR, NR2F6, ERCC1, ERCC2, ERF, FBL, ETFB, ETV2, FARSA, FCAR, FCER2, FCGRT, FLT3LG, FOSB, FPR1, FPR2, FPR3, FTL, FUT1, FUT2, FUT3, FUT5, FUT6, GAMT, GCDH, GDF1, GIPR, GNA11, GNA15, GNG7, GPI, GPR4, GPR32, FFAR1, FFAR3, GPR42, FFAR2, MKNK2, GPX4, GRIK5, GRIN2D, ARHGAP35, GSK3A, GTF2F1, GYS1, GZMM, HAS1, FOXA3, HNRNPL, HPN, HRC, PRMT1, DNAJB1, ICAM1, ICAM3, ICAM4, IL11, IL12RB1, ILF3, INSL3, INSR, IRF3, JAK3, JUNB, JUND, KCNA7, KCNC3, KCNJ14, KCNN1, KCNN4, KIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KLK1, KLK2, LAIR1, LAIR2, LDLR, LGALS4, LGALS7, LHB, LIG1, LIM2, LIPE, LRP3, CYP4F3, BCAM, LYL1, MAG, MAN2B1, MATK, RAB8A, MAP3K10, MLLT1, MYO1F, MYBPC2, GADD45B, MYO9B, HNRNPM, CEACAM6, NDUFA3, NDUFA7, NDUFB7, NFIC, NFIX, NFKBIB, NKG7, CNOT3, NOTCH3, NOVA2, NPAS1, NPHS1, NRTN, NTF4, NUCB1, OAZ1, P2RY11, PAFAH1B3, PALM, PDE4A, PDE4C, PEG3, PEPD, PIK3R2, PIN1, PLAUR, FXYD1, FXYD3, POLD1, POLR2E, POLR2I, POLRMT, POU2F2, PPP2R1A, PPP5C, PRKACA, PRKCG, PKN1, PRKCSH, MAP2K2, MAP2K7, PSPN, PRRG2, KLK7, KLK6, KLK10, PRTN3, PSG1, PSG2, PSG3, PSG4, PSG5, PSG6, PSG7, PSG9, PSG11, PSMC4, PSMD8, PTBP1, PTGER1, PTGIR, PTPRH, PTPRS, PVR, NECTIN2, RAB3A, RAD23A, RELB, UPF1, RFX1, RFX2, RPL18, RPL18A, RPL28, MRPS12, RPS5, RPS9, RPS11, RPS15, RPS16, RPS19, RPS28, RRAS, RTN2, RYR1, SAFB, CLEC11A, SCN1B, CCL25, SELENOW, SGTA, SH3GL1, SLC1A5, SLC1A6, SLC5A5, SLC8A2, SMARCA4, SNAPC2, SNRNP70, SNRPA, SNRPD2, SPIB, STK11, AURKC, STXBP2, SULT2B1, SULT2A1, SUPT5H, SYT5, TBXA2R, TCF3, PRDX2, TGFB1, THOP1, ICAM5, TLE2, TNNI3, TNNT1, TPM4, TRU-TCA1-1, TULP2, TYK2, TYROBP, UBA52, NR1H2, UQCRFS1, USF2, VASP, VAV1, XRCC1, ZFP36, ZNF8, ZNF14, ZNF708, ZNF17, ZNF20, ZNF28, ZNF43, ZNF45, ZNF69, ZNF221, ZNF85, ZNF90, ZNF91, ZNF99, ZNF222, ZNF121, ZNF132, ZNF134, ZNF135, ZNF136, ZNF146, ZNF154, ZNF155, ZNF175, ZNF177, ZNF180, ZNF208, ZNF223, ZNF224, ZNF225, ZNF226, ZNF227, ZNF112, ZNF229, ZNF230, MADCAM1, SF3A2, ELL, SYMPK, MIA, CLPP, DPF1, LTBP4, TEAD2, RANBP3, CYP4F2, PPFIA3, KHSRP, PLA2G4C, PLPP2, RFXANK, EIF3G, STX10, S1PR4, URI1, TNFSF14, TNFSF9, NAPA, SIGLEC5, FCGBP, AP1M1, AP3D1, PGLYRP1, F2RL3, ARHGEF1, PDCD5, DYRK1B, LPAR2, RAB11B, CRLF1, NUMBL, CYTH2, S1PR2, ZNF235, TRIP10, LONP1, ZNF264, KCNK6, NCR1, MED26, HOMER3, IL27RA, NAPSA, GDF15, TECR, ZNF254, GMFG, RAB3D, APBA3, IER2, KLK4, SAFB2, ZNF432, DHX34, KIAA0355, ZNF536, KMT2B, KEAP1, MED16, CHAF1A, SH2D3A, AP1M2, UBA2, SAE1, SUGP2, EBI3, ZNF256, DDX39A, ZNF443, PLIN3, AKAP8, FSTL3, LILRB2, APC2, PAK4, B3GNT3, CLEC4M, ABCA7, HMG20B, KLF2, TUBB4A, TMEM147, IFI30, TOMM40, TIMM44, CARM1, SEMA6B, ZNF211, CHERP, RNASEH2A, RABAC1, SPINT2, KLF1, DLL3, CERS1, GIPC1, POP4, ZNF234, ZNF266, ZNF274, ZNF460, PPP1R13L, CD3EAP, RUVBL2, LILRB1, HCST, PNPLA6, KDELR1, UQCR11, LILRB5, ILVBL, LILRB4, KLK11, TMED1, LILRA1, LILRB3, LILRA3, LILRA2, UPK1A, HNRNPUL1, CLASRP, KPTN, SLC7A9, CDC37, MAP4K1, KLK8, CYP4F8, PNKP, COPE, U2AF2, ATF5, ZFP30, ZNF507, ADGRL1, PPP6R1, CARD8, SBNO2, SIRT2, MAST1, UNC13A, KDM4B, MAST3, SIPA1L3, FCHO1, CIC, ZC3H4, ZFR2, SIN3B, HAUS5, ARHGEF18, CRTC1, MAU2, PIP5K1C, FBXO46, ETHE1, BRD4, RPL13A, ARHGAP45, SYNGR4, LILRA4, PRG1, CASP14, ZIM2, CBLC, NUP62, HSPBP1, PPP1R15A, PLD3, FKBP8, EML2, SHC2, TMEM59L, PGLS, LSM4, KLK5, ZNF345, PRKD2, RPL36, ZNF473, KANK2, CLIP3, FAM32A, LSM14A, KLK13, CCDC9, PRPF31, IRF2BP1, FGF21, GAPDHS, OR7A17, TIMM13, TSPAN16, DAZAP1, OR10H3, OR10H2, OR10H1, OR7E24, OR7C2, OR7A5, OR7C1, ZNF285, AKAP8L, FGF22, ZBTB32, SIGLEC7, LYPD3, ARRDC2, BBC3, DKKL1, TJP3, CPAMD8, SIGLEC9, SIGLEC8, C5AR2, NMRK2, DHDH, ZNF544, EIF3K, UBE2S, SLC6A16, C19orf53, BABAM1, LGALS13, UHRF1, CYP2S1, TFPT, STRN4, CCDC106, HOOK2, EPN1, SERTAD3, SERTAD1, SLC39A3, NOP53, BICRA, TNPO2, ADGRE2, CD209, EHD2, KLK14, KLK12, COL5A3, RDH8, SHANK1, NOSIP, MRPL4, NDUFA13, ANGPTL4, ZNF580, HSD17B14, GP6, VRK3, MARCH2, ZNF571, GMIP, CD320, ECSIT, THEG, ZBTB7A, FZR1, WDR83OS, ISYNA1, ZNF581, SIRT6, PIAS4, LSR, LSM7, ZNF44, TM6SF2, MBD3, PTOV1, S1PR5, FXYD7, FXYD5, RAB4B, MIER2, DDX49, PAF1, PCSK4, PPP1R12C, TRPM4, ZNF586, ZNF562, QPCTL, GATAD2A, BEST2, FBXL12, FAM83E, PGPEP1, CC2D1A, EPS8L1, RASIP1, TMEM161A, SARS2, TMEM160, C19orf24, PIH1D1, REX1BD, GPATCH1, SAMD4B, DMAC2, PLEKHJ1, C19orf73, MAP1S, PNMA8A, TMEM143, KLHL26, ZNF444, C19orf66, ZNF331, FEM1A, ZNF823, KLK15, MED29, STAP2, TRMT1, BTBD2, NLRP2, RNF126, ZNF416, CCDC94, ASF1B, ZNF701, ZNF83, ZNF415, USE1, PSENEN, ZNF302, ANGPTL8, LIN37, MYDGF, SMG9, ZNF253, IRGC, SLC7A10, PPAN, CABP5, RETN, SPHK2, LGALS14, EXOSC5, MEIS3, NCLN, GPR108, SPPL2B, DUS3L, XAB2, SHD, CEACAM19, SLC17A7, NAT14, CD177, ATP13A1, RGL3, SLC44A2, VN1R1, MCOLN1, RCN3, ZNF304, TTYH1, WDR18, REXO1, PNMA8B, ZNF490, PRR12, DOCK6, ZNF471, ZNF492, TSHZ3, LRFN1, GRAMD1A, CAMSAP3, USP29, PLEKHA4, ZFP14, ZNF317, ZNF529, PRX, ANO8, SPTBN4, MARK4, SUGP1, HAMP, CATSPERG, CYP4F11, ZNF71, ZNF77, SCAF1, CACTIN, PRODH2, EPS15L1, WIZ, CACNG8, CACNG7, CACNG6, UBL5, ZNF350, TSKS, CELF5, ZNF667, DMRTC2, C19orf33, ELSPBP1, LIN7B, HIF3A, CHST8, ZNF574, PLEKHG2, RASAL3, MRPL34, KRI1, ZSWIM4, ZNF649, ZSCAN18, CYP4F12, YIPF2, TRIR, DDA1, KXD1, TMEM38A, TSEN34, KCTD15, SLC25A23, SMIM7, ZNF426, TRAPPC6A, MBOAT7, FKRP, ZSCAN5A, PLEKHF1, LENG1, LILRA6, RBM42, C19orf57, ZNF576, FSD1, ZNF557, LRFN3, ABHD8, CERS4, OCEL1, ZNF329, COLGALT1, IGFLR1, TBC1D17, ZNF419, GEMIN7, ISOC2, MYH14, ZNF665, TLE6, ZNF552, EPHX3, PODNL1, ZNF671, ZNF613, COQ8B, CNTD2, SLC35E1, PLPPR3, DENND1C, ZNF442, ZNF556, ZNF606, ZNF614, LRRC8E, FUZ, OPA3, ZNF430, ITPKC, UBXN6, PBX4, IQCN, B9D2, RSPH6A, CCDC130, ACSBG2, ADAMTS10, ZNF611, MED25, QTRT1, ABHD17A, ZNF93, DOHH, PLVAP, RTBDN, BCL2L12, C19orf12, TEX101, GRWD1, ANGPTL6, KLF16, USHBP1, WDR87, TSSK6, CCDC8, KIRREL2, ANKRD27, PRAM1, C19orf44, ZNF541, MRI1, SYT3, FBXW9, ALKBH7, WDR83, PDCD2L, ZNF414, AKT1S1, ELOF1, ZNF528, DOT1L, BRSK1, ZNF333, FBN3, ZNF527, CNFN, ZNF559, KISS1R, ADGRE3, ZNF347, CREB3L3, GTPBP3, ZNF577, MPV17L2, ZNF607, KMT5C, C19orf48, NFKBID, LMNB2, RAX2, CEP89, ZNF382, ZNF587, FIZ1, ZNF566, MUM1, HSH2D, MPND, ALKBH6, ATG4D, ATCAY, SYDE1, RHPN2, MBD3L1, GALP, SIGLEC10, SIGLEC12, ZNF628, MIDN, ZNF30, ZNF551, CEACAM21, ZNF616, ZNF766, CCDC97, EXOC3L2, ZNF468, ZNF160, CTU1, SAMD1, DCAF15, GADD45GIP1, ZNF835, YIF1B, ZNF799, TIMM29, ZNF625, ZNF700, ZNF439, ZNF486, DPP9, ZNF682, R3HDM4, TMEM259, FAAP24, TDRD12, ZNF765, NLRP12, MYADM, ZNF845, TPGS1, ZNF461, ZNF585B, CRB3, TIMM50, SHKBP1, REEP6, PEX11G, DMKN, ZNF561, OLFM2, CCDC114, HAUS8, MVB12A, ARMC6, ACP4, CGB5, MUC16, CGB7, LRRC4B, ZNF101, LENG9, CGB8, GNG8, PPP1R14A, EGLN2, BIRC8, FAM71E1, RDH13, FDX1L, NACC1, PTH2, IZUMO4, SCAMP4, ADAT3, ZNF257, ZIM3, SIGLEC11, CGB1, CGB2, PGLYRP2, LMTK3, LENG8, CCDC124, ZNF554, FBXO17, KIR3DL3, ARHGAP33, EVI5L, RASGRP4, NXNL1, CCDC151, ZNF653, ZNF526, ZNF837, GRIN3B, MRPL54, LRG1, CIB3, RLN3, CLDND2, ZNF816, ZNF543, CEACAM20, RAVER1, OR7D4, OR7G1, OR1M1, COX6B2, CALR3, ACER1, C19orf70, MBD3L2, TRAPPC5, PCP2, OSCAR, ZNF813, ZNF441, ZNF491, ZNF440, SWSAP1, CCDC159, JOSD2, IZUMO2, CPT1C, ALDH16A1, NTN5, NLRP13, NLRP8, NLRP5, ZNF787, ZNF573, WDR88, TMIGD2, EID2B, TNFAIP8L1, IRGQ, ZNF428, JSRP1, MOB3A, MFSD12, GIPC3, NDUFA11, MISP, LRRC25, OR1I1, WTIP, ZNF792, NR2C2AP, HSPB6, CCDC105, CYP4F22, RINL, FBXO27, PLK5, C19orf47, OR10H4, ANKLE1, C2CD4C, ZNF358, ZFP28, VSIG10L, ZNF480, ZNF534, ZNF578, ERVV-1, SMIM17, C19orf18, ZNF418, ZNF417, ZNF548, PPM1N, KLC3, IGSF23, LYPD4, ZNF560, TMEM190, HIPK4, TMC4, ZNF524, ZNF784, ZNF563, SPC24, CCDC155, DACT3, SIX5, IGFL2, ZNF420, ZNF565, NLRP4, ZNF582, ZNF583, FAM98C, CAPN12, DPY19L3, LGALS16, TTC9B, TICAM1, ZNRF4, ZNF599, FAM187B, CILP2, PROSER3, ZNF558, CDC42EP5, ZNF98, ZNF714, ZNF681, C19orf25, ATP8B3, DIRAS1, ZNF555, ZNF569, ZNF570, ZNF836, ZNF610, ZNF600, ZNF320, ZNF497, ZNF550, ZNF296, DEDD2, ZNF846, OR7D2, ZNF579, ZNF791, ZNF564, ZNF709, ZNF433, ZNF114, ZNF567, ZNF383, ZNF781, EID2, ZNF780B, PRR22, LGI4, SYNE4, ZNF676, ZNF100, ZNF540, SSBP4, ZNF431, ANKRD24, SPACA4, ZNF675, MCEMP1, ZNF627, DAND5, ZNF585A, NLRP7, GGN, CADM4, THAP8, U2AF1L4, ZNF626, FAM129C, ADM5, ZNF584, ZSCAN4, NLRP11, TMEM86B, CBARP, INAFM1, C19orf38, ZNF549, SYCE2, KANK3, TINCR, CATSPERD, IL4I1, IFNL2, IFNL3, IFNL1, SSC5D, ZNF547, ZIK1, ZNF776, ZSCAN1, ZNF780A, C19orf54, PRR19, TMEM145, CXCL17, ZNF575, LYPD5, ZNF283, PPP1R37, NKPD1, TPRX1, MAMSTR, IZUMO1, EMC10, KLK9, SIGLECL1, ZNF615, ZNF841, ACTL9, OR2Z1, ZNF763, ZNF844, SCGB2B2, WDR62, ZFP82, VSTM1, TMEM150B, FAM71E2, SMIM24, SLC25A41, MBD3L5, OR10H5, NWD1, SLC25A42, ZNF493, ODF3L2, HKR1, VN1R2, VN1R4, NLRP9, ZNF181, ZNF260, ZNF546, MYPOP, NANOS2, ADAMTSL5, CLEC4G, VSTM2B, ZNF850, NCCRP1, SYCN, LEUTX, ZNF404, ZNF284, C19orf81, ZNF677, RFPL4A, ZSCAN5B, ZSCAN22, NANOS3, PALM3, SELENOV, ZNF530, DNAAF3, ZNF429, ZNF233, LILRA5, TMPRSS9, NDUFS7, PEAK3, HSD11B1L, TEX45, ZNF699, TMEM205, YJEFN3, SBSN, ZNF829, ZNF568, B3GNT8, IGFL1, ZSWIM9, ZNF773, SLC27A1, CLEC17A, ZNF728, RGS9BP, KRTDAP, ZNF790, CEACAM16, BLOC1S3, IGFL3, ZNF808, ZNF888, ZNF761, TMEM238, ZNF470, ZNF749, ONECUT3, OR7G2, OR7G3, OR7A10, NUDT19, ZNF793, ACP7, PINLYP, ZNF805, SPRED3, MEX3D, PRSS57, VMAC, LOC400706, ZNF880, ZNF772, IGLON5, HAPLN4, CTXN1, MIRLET7E, MIR125A, MIR150, MIR181C, MIR199A1, MIR23A, MIR24-2, MIR27A, MIR99B, PLIN5, ZNF506, PSG8, TARM1, MIR371A, MIR372, MIR373, IGFL4, DPRX, DUXA, ASPDH, MIR519D, MIR520H, TMEM91, SDHAF1, LINGO3, ARRDC5, C19orf67, SBK2, UCA1, LGALS7B, PHLDB3, MBD3L4, MBD3L3, PPAN-P2RY11, OVOL3, PLIN4, CCDC61, ZNF878, CEACAM18, SHISA7, RFPL4AL1, BORCS8, ZNF814, ZNF726, SIGLEC14, ZGLP1, C19orf71, ZNF730, ZNF737, TMEM221, BSPH1, PET100, SRRM5, ERICH4, ERVV-2, MEF2B, ZNF729, ZNF587B, MIR1909, PPP5D1, ZNF865, LOC100507551, TGFBR3L, LOC100507646, ERVK3-1, ZNF559-ZNF177, ZNF816-ZNF321P, PTOV1-AS2, ZIM2-AS1
See casesPathogenic
(Dec 2, 2014)
no assertion criteria provided
62.
GRCh37:
Chr19:15244405-24376393
GRCh38:
Chr19:15133594-24193591
BST2, COMP, NCAN, NR2F6, GDF1, IL12RB1, INSL3, JAK3, JUND, KCNN1, CYP4F3, BORCS8-MEF2B, RAB8A, MYO9B, NOTCH3, PDE4C, PIK3R2, RAB3A, UPF1, RPL18A, SLC5A5, TPM4, UBA52, ZNF14, ZNF708, ZNF43, ZNF56, ZNF66, ZNF85, ZNF90, ZNF91, ZNF99, ZNF208, ELL, CYP4F2, RFXANK, AP1M1, F2RL3, LPAR2, CRLF1, MED26, HOMER3, GDF15, ZNF254, SUGP2, AKAP8, B3GNT3, KLF2, IFI30, CHERP, CERS1, CYP4F8, COPE, UNC13A, MAST3, FCHO1, SIN3B, CRTC1, MAU2, BRD4, FKBP8, TMEM59L, PGLS, LSM4, FAM32A, OR10H3, OR10H2, OR10H1, SNORA68, AKAP8L, ARRDC2, CPAMD8, BABAM1, NDUFA13, GMIP, ISYNA1, TM6SF2, DDX49, GATAD2A, PGPEP1, TMEM161A, REX1BD, MAP1S, KLHL26, USE1, ZNF253, ATP13A1, ZNF492, ANO8, SUGP1, CYP4F11, EPS15L1, WIZ, RASAL3, MRPL34, CYP4F12, DDA1, KXD1, TMEM38A, SMIM7, ABHD8, OCEL1, COLGALT1, EPHX3, SLC35E1, ZNF430, PBX4, IQCN, ZNF93, PLVAP, USHBP1, TSSK6, C19orf44, GTPBP3, MPV17L2, HSH2D, ZNF486, ZNF682, HAUS8, MVB12A, ARMC6, ZNF101, ZNF257, PGLYRP2, CCDC124, NXNL1, CIB3, CALR3, LRRC25, NR2C2AP, CYP4F22, LINC00661, OR10H4, ANKLE1, CILP2, ZNF98, ZNF738, ZNF714, ZNF681, LINC00905, ZNF676, ZNF100, SSBP4, ZNF431, ZNF675, ZNF626, FAM129C, OR10H5, NWD1, SLC25A42, LINC00663, ZNF493, ZNF429, YJEFN3, LINC01785, SLC27A1, ZNF728, RPSAP58, LINC00664, HAPLN4, ZNF506, ZNF724, ZNF723, UCA1, MIR640, LOC729966, BORCS8, ZNF726, LINC01233, ZNF730, ZNF737, TMEM221, MEF2B, ZNF729, MIR1470, MIR1270, MIR3188, MIR3189, LOC100505851, LOC100507551, LOC101929124, LINC01858, LINC01859, MIR6795, LINC01835, HOMER3-AS1, LOC102725254, LINC01224, BISPR, LINC01764, LINC01855
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
63.
GRCh37:
Chr19:11338618-45129651
GRCh38:
Chr19:11227942-44626354
ACP5, ACTN4, AKT2, APLP1, ASNA1, ATP1A3, ATP4A, AXL, BCKDHA, CEACAM1, BLVRB, BST2, CACNA1A, CALR, CAPNS1, CCNE1, CD22, CD79A, ADGRE5, CEACAM5, CEBPA, CEBPG, CEACAM3, CEACAM7, CEACAM8, CEACAM4, TBCB, CLC, CNN1, COMP, COX6B1, COX7A1, NCAN, CYP2A6, CYP2A7, CYP2A13, CYP2B6, CYP2F1, DHPS, DNASE2, ECH1, MEGF8, ELAVL3, EPOR, NR2F6, ERF, FBL, ETV2, FARSA, GCDH, GDF1, GPI, FFAR1, FFAR3, GPR42, FFAR2, GRIK5, GSK3A, HNRNPL, HPN, DNAJB1, IL12RB1, INSL3, JAK3, JUNB, JUND, KCNN1, KCNN4, LGALS4, LGALS7, LIPE, LRP3, CYP4F3, LYL1, MAG, MAN2B1, BORCS8-MEF2B, RAB8A, MAP3K10, MYO9B, CEACAM6, NDUFB7, NFIX, NFKBIB, NOTCH3, NPHS1, PAFAH1B3, PDE4C, PEPD, PIK3R2, PLAUR, FXYD1, FXYD3, POLR2I, POU2F2, PRKACA, PKN1, PRKCSH, PSG1, PSG2, PSG3, PSG4, PSG5, PSG6, PSG7, PSG9, PSG11, PSMC4, PSMD8, PTGER1, RAB3A, RAD23A, UPF1, RFX1, RPL18A, MRPS12, RPS16, RPS19, RYR1, SCN1B, SLC1A6, SLC5A5, SNRPA, SUPT5H, PRDX2, TGFB1, TPM4, TYROBP, UBA52, UQCRFS1, USF2, XRCC1, ZFP36, ZNF14, ZNF708, ZNF20, ZNF43, ZNF45, ZNF56, ZNF66, ZNF69, ZNF221, ZNF85, ZNF90, ZNF91, ZNF99, ZNF222, ZNF136, ZNF146, ZNF155, ZNF180, ZNF208, ZNF223, ZNF224, ZNF225, ZNF226, ZNF227, ZNF112, ZNF229, ZNF230, ELL, MIA, DPF1, LTBP4, CYP4F2, RFXANK, STX10, URI1, FCGBP, AP1M1, F2RL3, ARHGEF1, PDCD5, DYRK1B, LPAR2, CRLF1, NUMBL, ZNF235, KCNK6, MED26, HOMER3, IL27RA, GDF15, TECR, ZNF254, GMFG, RAB3D, IER2, KIAA0355, ZNF536, KMT2B, UBA2, SUGP2, DDX39A, ZNF443, AKAP8, PAK4, B3GNT3, KLF2, TMEM147, IFI30, CHERP, RNASEH2A, RABAC1, SPINT2, KLF1, DLL3, CERS1, GIPC1, POP4, ZNF234, HCST, ILVBL, UPK1A, HNRNPUL1, SLC7A9, MAP4K1, CYP4F8, COPE, ZFP30, ZNF507, ADGRL1, SIRT2, MAST1, UNC13A, MAST3, SIPA1L3, FCHO1, CIC, SIN3B, HAUS5, CRTC1, MAU2, ETHE1, BRD4, PRG1, CASP14, PLD3, FKBP8, TMEM59L, PGLS, LSM4, ZNF345, CLIP3, FAM32A, LSM14A, GAPDHS, OR7A17, TSPAN16, OR10H3, OR10H2, OR10H1, OR7C2, OR7A5, OR7C1, SNORA68, SNORD41, ZNF285, AKAP8L, ZBTB32, LYPD3, ARRDC2, CPAMD8, EIF3K, C19orf53, BABAM1, LGALS13, CYP2S1, HOOK2, SERTAD3, SERTAD1, TNPO2, ADGRE2, NDUFA13, ZNF571, GMIP, ECSIT, WDR83OS, ISYNA1, LSR, ZNF44, TM6SF2, FXYD7, FXYD5, RAB4B, DDX49, PAF1, GATAD2A, BEST2, PGPEP1, CC2D1A, TMEM161A, SARS2, REX1BD, GPATCH1, SAMD4B, DMAC2, MAP1S, KLHL26, ZNF823, MED29, TRMT1, ASF1B, USE1, PSENEN, ZNF302, ANGPTL8, LIN37, SMG9, ZNF253, IRGC, SLC7A10, LGALS14, EXOSC5, CD177, ATP13A1, RGL3, ZNF490, DOCK6, ZNF492, TSHZ3, LRFN1, GRAMD1A, ZFP14, ZNF529, PRX, ANO8, SPTBN4, SUGP1, HAMP, CATSPERG, CYP4F11, PRODH2, EPS15L1, WIZ, DMRTC2, C19orf33, CHST8, PLPPR2, ZNF574, PLEKHG2, RASAL3, MRPL34, ZSWIM4, CYP4F12, TRIR, DDA1, KXD1, TMEM38A, KCTD15, SMIM7, PLEKHF1, RBM42, C19orf57, ZNF576, LRFN3, ABHD8, OCEL1, COLGALT1, IGFLR1, EPHX3, PODNL1, COQ8B, CNTD2, SLC35E1, ZNF442, CEBPA-AS1, ZNF430, ITPKC, PBX4, IQCN, B9D2, CCDC130, ZNF93, PLVAP, RTBDN, C19orf12, TEX101, USHBP1, WDR87, TSSK6, KIRREL2, ANKRD27, C19orf44, MRI1, FBXW9, WDR83, PDCD2L, ELOF1, ZNF333, ZNF527, CNFN, ADGRE3, GTPBP3, MPV17L2, ZNF607, NFKBID, CEP89, ZNF382, ZNF566, HSH2D, ALKBH6, SYDE1, RHPN2, ZNF30, CEACAM21, CCDC97, SAMD1, DCAF15, GADD45GIP1, YIF1B, ZNF799, ZNF625, ZNF700, ZNF439, ZNF486, ZNF682, FAAP24, TDRD12, ZNF461, ZNF585B, TIMM50, SHKBP1, DMKN, HAUS8, MVB12A, ARMC6, ZNF101, PPP1R14A, EGLN2, NACC1, MISP3, ZNF257, PGLYRP2, CCDC124, FBXO17, ARHGAP33, RASGRP4, NXNL1, CCDC151, ZNF653, ZNF526, CIB3, RLN3, CEACAM20, CALR3, ZNF441, ZNF491, ZNF440, SWSAP1, CCDC159, ZNF573, WDR88, EID2B, IRGQ, ZNF428, LRRC25, OR1I1, WTIP, ZNF792, NR2C2AP, HSPB6, CCDC105, CYP4F22, RINL, FBXO27, C19orf47, LINC00661, OR10H4, ANKLE1, IGSF23, LYPD4, HIPK4, ZNF563, ZNF420, ZNF565, FAM98C, CAPN12, DPY19L3, LGALS16, TTC9B, ZNF599, FAM187B, CILP2, PROSER3, LINC00906, LINC00662, ZNF98, ZNF738, ZNF714, ZNF681, LINC00905, ZNF569, ZNF570, DEDD2, ZNF791, ZNF564, ZNF709, ZNF433, ZNF567, ZNF383, ZNF781, EID2, ZNF780B, LGI4, SYNE4, ZNF676, ZNF100, ZNF540, SSBP4, ZNF431, ZNF675, ZNF627, DAND5, ZNF585A, GGN, CADM4, THAP8, U2AF1L4, ZNF626, FAM129C, SYCE2, IFNL2, IFNL3, IFNL1, ZNF780A, C19orf54, PRR19, TMEM145, CXCL17, LOC284344, ZNF575, LYPD5, ZNF283, ZNF763, ZNF844, LOC284395, SCGB2B2, WDR62, ZFP82, ZNF790-AS1, LOC284412, OR10H5, NWD1, SLC25A42, LINC00663, ZNF493, LOC284454, HKR1, ZNF181, ZNF260, ZNF546, VSTM2B, ZNF850, NCCRP1, SYCN, LEUTX, ZNF404, ZNF284, NANOS3, PALM3, SELENOV, ZNF429, ZNF233, TMEM205, YJEFN3, LINC01785, SBSN, ZNF829, ZNF568, B3GNT8, SLC27A1, ZNF788, CLEC17A, ZNF728, RPSAP58, RGS9BP, KRTDAP, ZNF790, OR7A10, NUDT19, ZNF793, ACP7, LOC390937, PINLYP, SPRED3, LINC00664, LOC400684, LINC01801, HAPLN4, MIR181C, MIR23A, MIR24-2, MIR27A, ZNF506, ZNF724, PSG8, MIR181D, TMEM91, CCER2, LINC01529, SDHAF1, LOC644554, C19orf67, ZNF723, LOC648044, UCA1, LGALS7B, PHLDB3, MIR639, MIR640, MIR641, OVOL3, LOC728485, LOC728752, ZNF878, LOC729966, BORCS8, ZNF726, LINC01233, HPN-AS1, LINC01531, ZNF730, ZNF737, TMEM221, LOC100134317, SRRM5, ERICH4, TRT-AGT1-3, TRI-TAT1-1, MEF2B, ZNF729, LOC100289333, PSG8-AS1, MIR1470, MIR1270, LOC100379224, MIR3188, MIR3189, MIR4323, PCAT19, LOC100505585, LOC100505622, LOC100505715, LINC01532, LOC100505851, TMEM147-AS1, LINC00665, LOC100507373, ZNF571-AS1, THEG5, LOC100507551, LOC100507646, MIA-RAB4B, RAB4B-EGLN2, ZNF625-ZNF20, MIR4530, LOC100631378, LINC00904, LINC01838, MIR5695, MIR5196, MIR5684, UPK1A-AS1, LIPE-AS1, LINC01533, IFNL4, LOC101927151, LINC01782, LOC101927572, ZNF529-AS1, LINC01534, LINC01535, ZNF793-AS1, LINC01480, LOC101928063, ZNF433-AS1, LINC01842, LOC101929124, LINC01858, LINC01859, LOC101930071, MIR6795, MIR6796, MIR6797, MIR7974, MIR8077, MIR6719, MIR6794, MIR6887, MIR1199, MIR6515, ZNF30-AS1, LINC01766, LINC01835, HOMER3-AS1, LOC102724908, LOC102724958, LOC102725254, LINC01224, BISPR, GNG14, LINC01841, LINC01764, LINC01855, FFAR2, LOC105372383, LOC105372397, SNORD135, SNORA104, LINC01791
See casesPathogenic
(Mar 30, 2010)
no assertion criteria provided
64.
GRCh37:
Chr19:14085489-28330584
GRCh38:
Chr19:13974677-27839676
BST2, ADGRE5, COMP, NCAN, NR2F6, GDF1, DNAJB1, IL12RB1, INSL3, JAK3, JUND, KCNN1, CYP4F3, BORCS8-MEF2B, RAB8A, MYO9B, NDUFB7, NOTCH3, PDE4C, PIK3R2, PRKACA, PKN1, PTGER1, RAB3A, UPF1, RFX1, RPL18A, SLC1A6, SLC5A5, TPM4, UBA52, ZNF14, ZNF708, ZNF43, ZNF56, ZNF66, ZNF85, ZNF90, ZNF91, ZNF99, ZNF208, ELL, CYP4F2, RFXANK, AP1M1, F2RL3, LPAR2, CRLF1, MED26, HOMER3, IL27RA, GDF15, TECR, ZNF254, SUGP2, DDX39A, AKAP8, B3GNT3, KLF2, IFI30, CHERP, CERS1, GIPC1, ILVBL, CYP4F8, COPE, ADGRL1, UNC13A, MAST3, FCHO1, SIN3B, CRTC1, MAU2, BRD4, CASP14, FKBP8, TMEM59L, PGLS, LSM4, FAM32A, OR7A17, OR10H3, OR10H2, OR10H1, OR7C2, OR7A5, OR7C1, SNORA68, AKAP8L, ARRDC2, CPAMD8, BABAM1, ADGRE2, NDUFA13, GMIP, ISYNA1, TM6SF2, DDX49, GATAD2A, PGPEP1, TMEM161A, REX1BD, MAP1S, KLHL26, ASF1B, USE1, ZNF253, ATP13A1, ZNF492, ANO8, SUGP1, CYP4F11, EPS15L1, WIZ, RASAL3, MRPL34, CYP4F12, DDA1, KXD1, TMEM38A, SMIM7, ABHD8, OCEL1, COLGALT1, EPHX3, SLC35E1, ZNF430, PBX4, IQCN, ZNF93, PLVAP, USHBP1, TSSK6, C19orf44, ZNF333, ADGRE3, GTPBP3, MPV17L2, HSH2D, SYDE1, SAMD1, ZNF486, ZNF682, HAUS8, MVB12A, ARMC6, ZNF101, MISP3, ZNF257, PGLYRP2, CCDC124, NXNL1, CIB3, RLN3, CALR3, LRRC25, OR1I1, NR2C2AP, CCDC105, CYP4F22, LINC00661, OR10H4, ANKLE1, CILP2, LINC00662, ZNF98, ZNF738, ZNF714, ZNF681, LINC00905, ZNF676, ZNF100, SSBP4, ZNF431, ZNF675, ZNF626, FAM129C, OR10H5, NWD1, SLC25A42, LINC00663, ZNF493, PALM3, ZNF429, YJEFN3, LINC01785, SLC27A1, CLEC17A, ZNF728, RPSAP58, OR7A10, LINC00664, HAPLN4, ZNF506, ZNF724, C19orf67, ZNF723, UCA1, MIR639, MIR640, LOC729966, BORCS8, ZNF726, LINC01233, ZNF730, ZNF737, TMEM221, MEF2B, ZNF729, MIR1470, MIR1270, MIR3188, MIR3189, LOC100505851, LOC100507373, LOC100507551, LOC101927151, LINC01842, LOC101929124, LINC01858, LINC01859, MIR6795, MIR1199, LINC01835, HOMER3-AS1, LOC102725254, LINC01224, BISPR, LINC01841, LINC01764, LINC01855, SNORA104
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
65.
GRCh37:
Chr19:17287576-35415054
GRCh38:
Chr19:17176767-34924150
BST2, CCNE1, CEBPA, CEBPG, COMP, NCAN, NR2F6, GDF1, GPI, IL12RB1, INSL3, JAK3, JUND, KCNN1, LRP3, BORCS8-MEF2B, MYO9B, PDE4C, PEPD, PIK3R2, RAB3A, UPF1, RPL18A, SLC5A5, UBA52, UQCRFS1, ZNF14, ZNF708, ZNF43, ZNF56, ZNF66, ZNF85, ZNF90, ZNF91, ZNF99, ZNF208, ELL, RFXANK, URI1, PDCD5, LPAR2, CRLF1, HOMER3, GDF15, ZNF254, KIAA0355, ZNF536, UBA2, SUGP2, B3GNT3, IFI30, CERS1, POP4, SLC7A9, COPE, ZNF507, UNC13A, MAST3, FCHO1, CRTC1, MAU2, FKBP8, TMEM59L, PGLS, LSM4, LSM14A, SNORA68, ARRDC2, BABAM1, NDUFA13, GMIP, ISYNA1, TM6SF2, DDX49, GATAD2A, PGPEP1, TMEM161A, REX1BD, GPATCH1, MAP1S, KLHL26, USE1, ZNF302, ZNF253, SLC7A10, ATP13A1, ZNF492, TSHZ3, ANO8, SUGP1, CHST8, MRPL34, DDA1, KXD1, KCTD15, PLEKHF1, ABHD8, OCEL1, COLGALT1, CEBPA-AS1, ZNF430, PBX4, IQCN, ZNF93, PLVAP, C19orf12, USHBP1, TSSK6, ANKRD27, PDCD2L, GTPBP3, MPV17L2, CEP89, RHPN2, ZNF30, ZNF486, ZNF682, FAAP24, TDRD12, MVB12A, ARMC6, ZNF101, ZNF257, CCDC124, NXNL1, WDR88, LRRC25, WTIP, NR2C2AP, ANKLE1, DPY19L3, ZNF599, CILP2, LINC00906, LINC00662, ZNF98, ZNF738, ZNF714, ZNF681, ZNF676, ZNF100, SSBP4, ZNF431, ZNF675, ZNF626, FAM129C, LOC284395, SCGB2B2, SLC25A42, LINC00663, ZNF493, ZNF181, VSTM2B, ZNF429, YJEFN3, LINC01785, SLC27A1, ZNF728, RPSAP58, RGS9BP, NUDT19, LINC00664, LOC400684, LINC01801, HAPLN4, ZNF506, ZNF724, ZNF723, MIR640, LOC729966, BORCS8, ZNF726, LINC01233, ZNF730, ZNF737, TMEM221, TRT-AGT1-3, MEF2B, ZNF729, MIR1270, MIR3188, MIR3189, LINC01532, LOC100505851, THEG5, LOC100507551, LINC00904, LINC01838, LINC01533, LOC101927151, LINC01782, LOC101929124, LINC01858, LINC01859, ZNF30-AS1, HOMER3-AS1, LOC102724908, LOC102724958, LOC102725254, LINC01224, BISPR, LINC01791
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
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