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Items: 1 to 100 of 106

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
SLC46A1Congenital defect of folate absorptionPathogenic
(May 1, 2011)
no assertion criteria provided
2.
GRCh37:
Chr17:17711738-217748468
AANAT, ACACA, ASIC2, ACLY, ACOX1, ACTG1, AP2B1, ALDH3A1, ALDH3A2, ALDOC, AOC2, BIRC5, APOH, ARL4D, ARHGDIA, ATP5MC1, ATP6V0A1, BLMH, BRCA1, FMNL1, CA4, CACNB1, CACNG1, CD7, CD79B, CDC6, CDC27, CDK3, CHAD, CLTC, CCR7, CNP, COL1A1, COX11, CPD, CRHR1, CRYBA1, CSF3, CSH1, CSH2, CSHL1, CSNK1D, SLC25A10, CYB561, ACE, DDX5, DHX8, DLX3, DLX4, DRG2, DUSP3, ERBB2, ERN1, ETV4, EVI2A, EVI2B, EVPL, EZH1, BPTF, FASN, FDXR, FOXJ1, FLII, FLOT2, GAST, FZD2, G6PC, GAA, GALK1, GCGR, KAT2A, GFAP, GH1, GH2, GIP, GNGT2, CCR10, UTS2R, GPS1, GRB2, GRB7, GRN, GRIN2C, H3F3B, HCRT, HLF, HOXB1, HOXB2, HOXB3, HOXB4, HOXB5, HOXB6, HOXB7, HOXB8, HOXB9, HSD17B1, ICAM2, MRPL58, IFI35, IGFBP4, FOXK2, ITGA2B, ITGA3, ITGB3, ITGB4, JUP, KCNJ2, KCNJ12, KCNJ16, KPNB1, KPNA2, KRT9, KRT10, KRT12, KRT13, KRT14, KRT15, KRT16, KRT17, KRT19, KRT31, KRT32, KRT33A, KRT33B, KRT34, KRT35, LASP1, LGALS3BP, LGALS9, LHX1, LIG3, LLGL2, LLGL1, LPO, NBR1, MAFG, MAPT, ADAM11, MAP3K3, MEOX1, MFAP4, MLLT6, MPO, MPP2, MPP3, TRIM37, MYL4, MYO1D, NAGLU, NEUROD2, NF1, NFE2L1, NGFR, NME1, NME2, NMT1, NOS2, NPTX1, NSF, OMG, P4HB, PDE6G, PDK2, PECAM1, PEX12, PHB, PNMT, SEPT4, MED1, PPY, PRKAR1A, PRKCA, MAPK7, MAP2K3, MAP2K6, PRPSAP1, PRPSAP2, PSMB3, PYY, PSMC5, PSMD3, PSMD11, PSMD12, PYCR1, PCYT2, RAB5C, RAC3, RAD51C, RAD51D, RARA, RFNG, RPL19, RPL23A, RPL27, RPL38, MRPL12, RPS6KB1, SCN4A, CCL1, CCL2, CCL3, CCL3L1, CCL4, CCL5, CCL7, CCL8, CCL11, CCL13, CCL14, CCL15, CCL16, CCL18, CCL23, SDF2, SEC14L1, SECTM1, SRSF1, SRSF2, SGCA, SGSH, SHMT1, SLC4A1, SLC6A4, SMARCD2, SMARCE1, SUMO2, SOX9, SP2, SREBF1, SRP68, SSTR2, STAT3, STAT5A, STAT5B, SUPT4H1, SUPT6H, TADA2A, TBCD, TBX2, HNF1B, MLX, THRA, TIMP2, TK1, TNFAIP1, TOP2A, TOP3A, TRQ-TTG1-1, DNAJC7, TUBG1, UBTF, VTN, WNT3, WNT9B, PCGF2, TRIM25, VEZF1, RNF112, ZNF207, TAF15, RND2, COIL, AKAP1, EPX, AXIN2, PIP4K2B, SPOP, FOXN1, PPM1D, CNTNAP1, DGKE, CBX4, TCAP, SKAP1, DNAH17, AOC3, BECN1, KRT38, KRT37, KRT36, ABCC3, RGS9, GALR2, TMEM11, KSR1, CDK5R1, SPHK1, CACNA1G, HAP1, MAP3K14, SOCS3, SPAG9, SLC13A2, UNC119, MTMR4, SLC16A6, SLC16A5, SLC16A3, SYNGR2, HGS, TIAF1, NOG, TSPOAP1, CYTH1, ZNHIT3, EFTUD2, RPL23, SLC9A3R1, COG1, RECQL5, PGS1, TBX4, NPEPPS, GOSR1, CCL4L2, GOSR2, NR1D1, TRAF4, AATK, KIAA0100, ULK2, TBKBP1, TMEM94, EIF4A3, PLEKHM1, MED24, LRRC37A, MRC2, HELZ, MED13, HDAC5, TOM1L1, GJC1, TOB1, ALYREF, PSME3, EIF1, NBR2, SLC35B1, DCAF7, CALCOCO2, RAMP2, ABCA10, ABCA9, ABCA8, BAIAP2, ATP5PD, HOXB13, VAT1, APPBP2, FBXW10, P3H4, ST6GALNAC2, HEXIM1, SPAG5, IGF2BP1, GNA13, CCT6B, RAI1, GRAP, SEPT9, CD300C, C1QL1, RUNDC3A, STARD3, CBX1, RAB40B, TLK2, DDX52, DUSP14, KAT7, AKAP10, POLG2, NXPH3, SNF8, SYNRG, CD300A, TMC6, DDX42, CASC3, IKZF3, ZNF652, PPM1E, ARSG, EPN2, CEP131, SARM1, GPATCH8, GGA3, JMJD6, EXOC7, USP22, KCNH4, ABCA6, ABCA5, KCTD2, SUZ12, MMD, WBP2, CDC42EP4, FSCN2, NOL11, DHRS7B, KRT23, TMEM98, POLDIP2, TBC1D29, TANC2, WSB1, NAT9, PITPNC1, ERAL1, NARF, AATF, OR4D1, B9D1, CACNG5, CACNG4, TUBG2, TMEM97, NKIRAS2, COA3, GIT1, SAP30BP, PSMC3IP, SNX11, TBX21, NT5C, SOCS7, CDR2L, SOST, TVP23B, MRPS7, UTP18, RNFT1, JPT1, MYO15A, TUBD1, DCXR, RAPGEFL1, TACO1, ABI3, COPZ2, MRPL27, PIPOX, AMZ2, ARL17A, CRLF3, ANAPC11, SIRT7, SLC25A39, MRPS23, PTRH2, NLK, LUC7L3, HIGD1B, CDK12, KRT20, NLE1, SDK2, FNDC8, FAM20A, MBTD1, BCAS3, TMEM104, CWC25, ALKBH5, RNF43, MKS1, C17orf80, CCDC40, EPN3, WIPI1, SLFN12, PNPO, KLHL11, SMG8, SLC47A1, TMEM100, RHOT1, RSAD1, COPRS, LRRC59, NPLOC4, FAM222B, PRR11, ADAP2, ST6GALNAC1, UTP6, TEX2, GSDMB, GPRC5C, TEX14, WDR45B, CA10, ATXN7L3, CCDC47, PLXDC1, LYZL6, CBX8, MIF4GD, INTS2, CASKIN2, RPTOR, NUFIP2, TAOK1, BAHCC1, USP36, ARHGAP23, PHF12, RNF213, TNRC6C, PCTP, SCPEP1, SLC25A19, FKBP10, UBE2O, HEATR6, DUS1L, FN3K, XYLT2, C17orf75, DNAI2, SMURF2, ENGASE, SPATA20, MRPL38, UBE2Z, WNK4, C17orf53, GID4, ASPSCR1, TMUB2, CARD14, DHX58, MMP28, DHRS11, MFSD11, PRR15L, C17orf62, ARMC7, CHMP6, RHBDF2, DHX40, FN3KRP, OGFOD3, TEFM, ZNF750, ACBD4, DCAKD, GGNBP2, NUP85, ATAD5, MRM1, PLEKHH3, DBF4B, MYO19, ACSF2, FAAP100, CDK5RAP3, SP6, COASY, SRCIN1, AARSD1, LIMD2, KCNH6, FAM117A, VMP1, KRTAP1-3, KRTAP1-1, KRTAP9-9, KRTAP4-6, KRTAP2-1, DRC3, TTC25, KRTAP4-12, RAB34, TSPAN10, KRTAP1-5, KRTAP3-1, KRTAP3-2, KRTAP9-2, KRTAP9-3, KRTAP9-8, KRTAP17-1, BRIP1, MYCBPAP, QRICH2, NSRP1, PPP1R1B, TBC1D3F, RNF135, MIEN1, MRPL45, VPS25, TMEM101, PRAC1, RAB11FIP4, GHDC, KRTAP4-4, KIF2B, USP32, PPP1R9B, CBX2, FAM104A, CORO6, TNS4, FBXL20, KRTAP9-4, KRTAP4-1, KRTAP4-5, KRTAP4-3, KRTAP4-2, KRTAP3-3, KRTAP2-4, FBF1, UNK, SSH2, TP53I13, IFT20, LRRC46, SCRN2, CEP95, TRIM47, ANKRD40, ZNF830, SLFN11, RASL10B, ATPAF2, STRADA, PRR29, SPECC1, G6PC3, ASB16, OTOP2, PGAP3, PIGS, TTYH2, HSPB9, ORMDL3, PLCD3, SLC46A1, TMEM106A, LRRC37B, CYGB, RNF157, OSBPL7, C1QTNF1, NT5C3B, ABHD15, TLCD1, PPP1R27, FTSJ3, RFFL, METTL23, HSF5, OR4D2, MSI2, SLC38A10, CANT1, USH1G, CD300LB, KIF19, ZPBP2, C17orf64, SPATA32, HEXIM2, LSM12, CCDC43, CNTD1, TMEM132E, WFIKKN2, B4GALNT2, SPACA3, SEZ6, ANKRD13B, EFCAB13, MRPL10, TBC1D16, AFMID, GJD3, KRT222, KRT40, MIEF2, SLC5A10, DYNLL2, SMCR8, MGAT5B, TOM1L2, TEPSIN, B3GNTL1, RBFOX3, CD300LF, C17orf77, EFCAB3, SLC47A2, C17orf50, SLFN13, SLC35G3, UNC45B, CD300LG, KIF18B, RUNDC1, EME1, TMEM199, PROCA1, DHRS13, NOTUM, TMC8, TRIM16L, WIPF2, KRT25, TMEM99, ANKFN1, MARCH10, SLFN5, NAGS, RETREG3, TMEM92, PHOSPHO1, RHBDL3, SPPL2C, KRT28, KRT24, CEP112, ARHGAP27, ZNF385C, SAMD14, LYRM9, CENPX, LRRC45, SLC39A11, TRIM65, UNC13D, RDM1, GAS2L2, STH, STXBP4, TBC1D28, TAC4, MYADML2, CDRT15L2, NATD1, NPB, HEATR9, FADS6, HID1, TSEN54, UBALD2, TMEM235, CCDC57, HEXDC, C17orf58, MILR1, KANSL1, CFAP97D1, FAM171A2, MEIOC, TTLL6, C17orf47, NEK8, PIGW, C17orf78, CISD3, GSDMA, CAVIN1, SLC26A11, ENDOV, GDPD1, NDUFAF8, TMEM105, LGALS9B, METRNL, KLHL10, RAB37, METTL2A, CCDC144NL, C17orf67, ENPP7, OXLD1, CCDC137, ARL16, C17orf51, MSL1, CD300E, NACA2, KRT27, SLFN14, STAC2, OTOP3, SKA2, MCRIP1, GPR142, ZACN, KRT26, PRAC2, EFCAB5, LRRC37A3, TMIGD1, CCL4L1, C17orf98, CCDC103, RPRML, YPEL2, C17orf82, BTBD17, ARL5C, KRT39, MYO18A, GRAPL, C17orf102, TEX19, CUEDC1, MIR10A, MIR144, MIR152, MIR193A, MIR196A1, MIR21, TBC1D3B, TBC1D3C, CCL3L3, MXRA7, GPR179, MIR338, LRRC37A2, FBXO47, MIR451A, CPSF4L, SMIM5, FAM83G, EVPLL, SEBOX, KRTAP4-11, LGALS9C, NME1-NME2, MIR33B, KRTAP4-8, KRTAP1-4, KRTAP2-2, KRTAP9-1, ZNF286B, TBC1D3, TBC1D3H, KRTAP2-3, PRCD, SNORD3A, SMIM6, CD300LD, KRTAP4-9, KRTAP4-7, TEN1, C17orf99, EPOP, MTRNR2L1, LRRC3C, KRTAP9-7, KRTAP16-1, HEXDC-IT1, ARL17B, C17orf112, SLFN12L, KRTAP9-6, PTGES3L, PTGES3L-AARSD1, LOC101927666
Smith-Magenis syndromePathogenic
(Nov 12, 2015)
criteria provided, single submitter
3.
GRCh37:
Chr17:26721791
GRCh38:
Chr17:28394772
SARM1, SLC46A1Congenital defect of folate absorptionBenign
(Jun 14, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr17:26721895
GRCh38:
Chr17:28394876
SARM1, SLC46A1Congenital defect of folate absorptionBenign
(Jun 14, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr17:26721933
GRCh38:
Chr17:28394914
SARM1, SLC46A1Congenital defect of folate absorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr17:26721946
GRCh38:
Chr17:28394927
SARM1, SLC46A1Congenital defect of folate absorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr17:26722014
GRCh38:
Chr17:28394995
SARM1, SLC46A1Congenital defect of folate absorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr17:26722039
GRCh38:
Chr17:28395020
SARM1, SLC46A1Congenital defect of folate absorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr17:26722040-26722041
GRCh38:
Chr17:28395021-28395022
SARM1, SLC46A1Congenital defect of folate absorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr17:26722040
GRCh38:
Chr17:28395021
SARM1, SLC46A1Congenital defect of folate absorptionBenign
(Jun 14, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr17:26722352
GRCh38:
Chr17:28395333
SARM1, SLC46A1Congenital defect of folate absorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr17:26722355
GRCh38:
Chr17:28395336
SARM1, SLC46A1Congenital defect of folate absorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr17:26722359
GRCh38:
Chr17:28395340
SARM1, SLC46A1Congenital defect of folate absorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr17:26722645
GRCh38:
Chr17:28395626
SARM1, SLC46A1Congenital defect of folate absorptionBenign
(Jun 14, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr17:26722716
GRCh38:
Chr17:28395697
SARM1, SLC46A1Congenital defect of folate absorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr17:26722728
GRCh38:
Chr17:28395709
SARM1, SLC46A1Congenital defect of folate absorptionBenign
(Jun 14, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr17:26722762
GRCh38:
Chr17:28395743
SARM1, SLC46A1Congenital defect of folate absorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
18.
GRCh37:
Chr17:26722886
GRCh38:
Chr17:28395867
SARM1, SLC46A1Congenital defect of folate absorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
19.
GRCh37:
Chr17:26722890
GRCh38:
Chr17:28395871
SARM1, SLC46A1Congenital defect of folate absorptionLikely benign
(Jun 14, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr17:26722998
GRCh38:
Chr17:28395979
SARM1, SLC46A1Congenital defect of folate absorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr17:26723014
GRCh38:
Chr17:28395995
SARM1, SLC46A1Congenital defect of folate absorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr17:26723072
GRCh38:
Chr17:28396053
SARM1, SLC46A1Congenital defect of folate absorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr17:26723273
GRCh38:
Chr17:28396254
SARM1, SLC46A1Congenital defect of folate absorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr17:26723286
GRCh38:
Chr17:28396267
SARM1, SLC46A1Congenital defect of folate absorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr17:26723373
GRCh38:
Chr17:28396354
SARM1, SLC46A1Congenital defect of folate absorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr17:26723409
GRCh38:
Chr17:28396390
SARM1, SLC46A1Congenital defect of folate absorptionLikely benign
(Jun 14, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr17:26723472
GRCh38:
Chr17:28396453
SARM1, SLC46A1Congenital defect of folate absorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
28.
GRCh37:
Chr17:26723540
GRCh38:
Chr17:28396521
SARM1, SLC46A1Congenital defect of folate absorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr17:26723613
GRCh38:
Chr17:28396594
SARM1, SLC46A1Congenital defect of folate absorptionBenign
(Jun 14, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr17:26723666
GRCh38:
Chr17:28396647
SARM1, SLC46A1Congenital defect of folate absorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr17:26723666
GRCh38:
Chr17:28396647
SARM1, SLC46A1Congenital defect of folate absorptionBenign
(Jun 14, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr17:26723707
GRCh38:
Chr17:28396688
SARM1, SLC46A1Congenital defect of folate absorptionLikely benign
(Jun 14, 2016)
criteria provided, single submitter
33.
GRCh37:
Chr17:26723822
GRCh38:
Chr17:28396803
SARM1, SLC46A1Congenital defect of folate absorptionLikely benign
(Jun 14, 2016)
criteria provided, single submitter
34.
GRCh37:
Chr17:26723832
GRCh38:
Chr17:28396813
SARM1, SLC46A1Congenital defect of folate absorptionLikely benign
(Jun 14, 2016)
criteria provided, single submitter
35.
GRCh37:
Chr17:26723867
GRCh38:
Chr17:28396848
SARM1, SLC46A1Congenital defect of folate absorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr17:26724014
GRCh38:
Chr17:28396995
SARM1, SLC46A1Congenital defect of folate absorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
37.
GRCh37:
Chr17:26724039
GRCh38:
Chr17:28397020
SARM1, SLC46A1Congenital defect of folate absorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr17:26724117
GRCh38:
Chr17:28397098
SARM1, SLC46A1Congenital defect of folate absorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
39.
GRCh37:
Chr17:26724162
GRCh38:
Chr17:28397143
SARM1, SLC46A1Congenital defect of folate absorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
40.
GRCh37:
Chr17:26724182
GRCh38:
Chr17:28397163
SARM1, SLC46A1Congenital defect of folate absorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
41.
GRCh37:
Chr17:26724274
GRCh38:
Chr17:28397255
SARM1, SLC46A1Congenital defect of folate absorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr17:26724402
GRCh38:
Chr17:28397383
SARM1, SLC46A1Congenital defect of folate absorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
43.
GRCh37:
Chr17:26724427
GRCh38:
Chr17:28397408
SARM1, SLC46A1Congenital defect of folate absorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
44.
GRCh37:
Chr17:26724552
GRCh38:
Chr17:28397533
SARM1, SLC46A1Congenital defect of folate absorptionLikely benign
(Jun 14, 2016)
criteria provided, single submitter
45.
GRCh37:
Chr17:26724694
GRCh38:
Chr17:28397675
SARM1, SLC46A1Congenital defect of folate absorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
46.
GRCh37:
Chr17:26724844
GRCh38:
Chr17:28397825
SARM1, SLC46A1Congenital defect of folate absorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
47.
GRCh37:
Chr17:26724877
GRCh38:
Chr17:28397861
SARM1, SLC46A1Congenital defect of folate absorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
48.
GRCh37:
Chr17:26724898
GRCh38:
Chr17:28397882
SARM1, SLC46A1Congenital defect of folate absorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
49.
GRCh37:
Chr17:26725023
GRCh38:
Chr17:28398007
SARM1, SLC46A1Congenital defect of folate absorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
50.
GRCh37:
Chr17:26725024
GRCh38:
Chr17:28398008
SARM1, SLC46A1Congenital defect of folate absorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
51.
GRCh37:
Chr17:26725045
GRCh38:
Chr17:28398029
SARM1, SLC46A1Congenital defect of folate absorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
52.
GRCh37:
Chr17:26725265
GRCh38:
Chr17:28398249
SARM1, SLC46A1Congenital defect of folate absorptionBenign
(Jun 14, 2016)
criteria provided, single submitter
53.
GRCh37:
Chr17:26725280
GRCh38:
Chr17:28398264
SARM1, SLC46A1Congenital defect of folate absorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
54.
GRCh37:
Chr17:26725340
GRCh38:
Chr17:28398324
SARM1, SLC46A1Congenital defect of folate absorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
55.
GRCh37:
Chr17:26725429
GRCh38:
Chr17:28398413
SARM1, SLC46A1Congenital defect of folate absorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
56.
GRCh37:
Chr17:26725452
GRCh38:
Chr17:28398436
SARM1, SLC46A1Congenital defect of folate absorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
57.
GRCh37:
Chr17:26725578
GRCh38:
Chr17:28398562
SARM1, SLC46A1Congenital defect of folate absorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
58.
GRCh37:
Chr17:26725596
GRCh38:
Chr17:28398580
SARM1, SLC46A1Congenital defect of folate absorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
59.
GRCh37:
Chr17:26725610
GRCh38:
Chr17:28398594
SARM1, SLC46A1Congenital defect of folate absorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
60.
GRCh37:
Chr17:26725666
GRCh38:
Chr17:28398650
SARM1, SLC46A1Congenital defect of folate absorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
61.
GRCh37:
Chr17:26725744
GRCh38:
Chr17:28398728
SARM1, SLC46A1Congenital defect of folate absorptionBenign
(Jun 14, 2016)
criteria provided, single submitter
62.
GRCh37:
Chr17:26725837
GRCh38:
Chr17:28398821
SARM1, SLC46A1Congenital defect of folate absorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
63.
GRCh37:
Chr17:26725887
GRCh38:
Chr17:28398871
SARM1, SLC46A1Congenital defect of folate absorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
64.
GRCh37:
Chr17:26725943
GRCh38:
Chr17:28398927
SARM1, SLC46A1Congenital defect of folate absorptionLikely benign
(Jun 14, 2016)
criteria provided, single submitter
65.
GRCh37:
Chr17:26725980
GRCh38:
Chr17:28398964
SARM1, SLC46A1Congenital defect of folate absorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
66.
GRCh37:
Chr17:26726395
GRCh38:
Chr17:28399379
SARM1, SLC46A1Congenital defect of folate absorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
67.
GRCh37:
Chr17:26726543
GRCh38:
Chr17:28399527
SARM1, SLC46A1Congenital defect of folate absorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
68.
GRCh37:
Chr17:26726582
GRCh38:
Chr17:28399566
SARM1, SLC46A1Congenital defect of folate absorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
69.
GRCh37:
Chr17:26726612
GRCh38:
Chr17:28399596
SARM1, SLC46A1Congenital defect of folate absorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
70.
GRCh37:
Chr17:26726661
GRCh38:
Chr17:28399645
SARM1, SLC46A1Congenital defect of folate absorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
71.
GRCh37:
Chr17:26726668
GRCh38:
Chr17:28399652
SARM1, SLC46A1Congenital defect of folate absorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
72.
GRCh37:
Chr17:26726685
GRCh38:
Chr17:28399669
SARM1, SLC46A1Congenital defect of folate absorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
73.
GRCh37:
Chr17:26726686
GRCh38:
Chr17:28399670
SARM1, SLC46A1not specified, not providedBenign/Likely benign
(Apr 12, 2016)
criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr17:26727674
GRCh38:
Chr17:28400658
SARM1, SLC46A1Congenital defect of folate absorption, not providedPathogenic
(Dec 8, 2011)
no assertion criteria provided
75.
GRCh37:
Chr17:26727691
GRCh38:
Chr17:28400674
SARM1, SLC46A1not specifiedUncertain significance
(Nov 1, 2017)
criteria provided, single submitter
76.
GRCh37:
Chr17:26727723
GRCh38:
Chr17:28400706
SARM1, SLC46A1not specifiedBenign
(Mar 29, 2016)
criteria provided, single submitter
77.
GRCh37:
Chr17:26729294
GRCh38:
Chr17:28402276
SLC46A1Congenital defect of folate absorption, not providedPathogenic
(Dec 8, 2011)
no assertion criteria provided
78.
GRCh37:
Chr17:26729295
GRCh38:
Chr17:28402277
SLC46A1Congenital defect of folate absorption, not providedPathogenic
(Dec 8, 2011)
no assertion criteria provided
79.
GRCh37:
Chr17:26729340
GRCh38:
Chr17:28402322
SLC46A1Congenital defect of folate absorptionPathogenic
(Dec 8, 2011)
no assertion criteria provided
80.
GRCh37:
Chr17:26731703
GRCh38:
Chr17:28404685
SLC46A1Congenital defect of folate absorption, not providedPathogenic
(Dec 8, 2011)
no assertion criteria provided
81.
GRCh37:
Chr17:26731711
GRCh38:
Chr17:28404693
SLC46A1Congenital defect of folate absorption, not providedPathogenic
(Dec 8, 2011)
no assertion criteria provided
82.
GRCh37:
Chr17:26731761
GRCh38:
Chr17:28404743
SLC46A1Congenital defect of folate absorption, not providedPathogenic
(Dec 8, 2011)
no assertion criteria provided
83.
GRCh37:
Chr17:26731811
GRCh38:
Chr17:28404793
SLC46A1Congenital defect of folate absorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
84.
GRCh37:
Chr17:26731959
GRCh38:
Chr17:28404941
SLC46A1not specifiedBenign
(May 30, 2016)
criteria provided, single submitter
85.
GRCh37:
Chr17:26731963
GRCh38:
Chr17:28404945
SLC46A1Congenital defect of folate absorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
86.
GRCh37:
Chr17:26732048
GRCh38:
Chr17:28405030
SLC46A1Congenital defect of folate absorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
87.
GRCh37:
Chr17:26732073
GRCh38:
Chr17:28405055
SLC46A1Congenital defect of folate absorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
88.
GRCh37:
Chr17:26732092
GRCh38:
Chr17:28405074
SLC46A1Congenital defect of folate absorption, not specifiedUncertain significance
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr17:26732203
GRCh38:
Chr17:28405185
SLC46A1Congenital defect of folate absorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
90.
GRCh37:
Chr17:26732249
GRCh38:
Chr17:28405231
SLC46A1Congenital defect of folate absorption, not providedPathogenic
(Dec 8, 2011)
no assertion criteria provided
91.
GRCh37:
Chr17:26732253
GRCh38:
Chr17:28405235
SLC46A1Congenital defect of folate absorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
92.
GRCh37:
Chr17:26732276
GRCh38:
Chr17:28405258
SLC46A1Congenital defect of folate absorption, not providedPathogenic
(Dec 8, 2011)
no assertion criteria provided
93.
GRCh37:
Chr17:26732378
GRCh38:
Chr17:28405360
SLC46A1Congenital defect of folate absorption, not providedPathogenic
(Dec 8, 2011)
no assertion criteria provided
94.
GRCh37:
Chr17:26732378
GRCh38:
Chr17:28405360
SLC46A1Congenital defect of folate absorption, not providedPathogenic
(Dec 8, 2011)
no assertion criteria provided
95.
GRCh37:
Chr17:26732421
GRCh38:
Chr17:28405403
SLC46A1Congenital defect of folate absorptionUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
96.
GRCh37:
Chr17:26732928-26732929
GRCh38:
Chr17:28405910-28405911
SLC46A1Congenital defect of folate absorptionPathogenic
(Dec 8, 2011)
no assertion criteria provided
97.
GRCh37:
Chr17:26732935-26732936
GRCh38:
Chr17:28405917-28405918
SLC46A1Congenital defect of folate absorptionPathogenic
(Dec 8, 2011)
no assertion criteria provided
98.
GRCh37:
Chr17:26732939
GRCh38:
Chr17:28405921
SLC46A1Congenital defect of folate absorptionPathogenic
(Dec 8, 2011)
no assertion criteria provided
99.
GRCh37:
Chr17:26732939
GRCh38:
Chr17:28405921
SLC46A1Congenital defect of folate absorptionPathogenic
(Dec 8, 2011)
no assertion criteria provided
100.
GRCh37:
Chr17:26732975
GRCh38:
Chr17:28405957
SLC46A1Congenital defect of folate absorption, not specifiedUncertain significance
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
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