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Items: 58

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
CDKN2AHereditary cancer-predisposing syndromePathogenic
(Oct 30, 2013)
criteria provided, single submitter
2.
GRCh37:
Chr9:21970916
GRCh38:
Chr9:21970917
CDKN2Anot specified, not provided, Hereditary cutaneous melanoma,
Hereditary cancer-predisposing syndrome
GO-ESP:0.02253(T)
GMAF:0.00700(T)
Benign
(Nov 10, 2015)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr9:21970924
GRCh38:
Chr9:21970925
CDKN2Anot specified, Hereditary cutaneous melanomaUncertain significance
(Feb 1, 2016)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr9:21970928
GRCh38:
Chr9:21970929
CDKN2Anot specified, not provided, Hereditary cutaneous melanoma,
Hereditary cancer-predisposing syndrome
GO-ESP:0.00223(A)
GMAF:0.00280(A)
Conflicting interpretations of pathogenicity, not provided
(Feb 13, 2016)
criteria provided, conflicting interpretations
5.
GRCh37:
Chr9:21970931
GRCh38:
Chr9:21970932
CDKN2Anot specifiedUncertain significance
(Feb 16, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr9:21970932
GRCh38:
Chr9:21970933
CDKN2Anot specifiedUncertain significance
(Nov 4, 2015)
criteria provided, single submitter
7.
GRCh37:
Chr9:21970979
GRCh38:
Chr9:21970980
CDKN2Anot specified, not provided, Hereditary cutaneous melanoma,
Hereditary cancer-predisposing syndrome
GO-ESP:0.00546(A)
GMAF:0.00740(A)
Benign
(Mar 19, 2016)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr9:21970981
GRCh38:
Chr9:21970982
CDKN2AMelanoma, cutaneous malignant, susceptibility to, 2, not provided, Hereditary cutaneous melanoma,
Hereditary cancer-predisposing syndrome
Pathogenic, risk factor
(Apr 15, 2016)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr9:21970985
GRCh38:
Chr9:21970986
CDKN2Anot specified, not provided, Hereditary cutaneous melanoma,
Hereditary cancer-predisposing syndrome
GO-ESP:0.00015(G)
GMAF:0.00020(G)
Uncertain significance
(Mar 25, 2016)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr9:21970989
GRCh38:
Chr9:21970990
CDKN2AHereditary cutaneous melanoma, Hereditary cancer-predisposing syndromeGMAF:0.00220(T)Benign/Likely benign
(Oct 2, 2015)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr9:21970993
GRCh38:
Chr9:21970994
CDKN2Anot specified, Hereditary cutaneous melanomaUncertain significance
(Feb 23, 2016)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr9:21971014
GRCh38:
Chr9:21971015
CDKN2Anot specifiedUncertain significance
(Feb 22, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr9:21971018-21971019
GRCh38:
Chr9:21971019-21971020
CDKN2AMelanoma, cutaneous malignant, susceptibility to, 2, Hereditary cancer-predisposing syndromePathogenic, risk factor
(May 15, 2014)
criteria provided, single submitter
14.
GRCh37:
Chr9:21971021-21971023
GRCh38:
Chr9:21971022-21971024
CDKN2Anot provided, Hereditary cutaneous melanoma, Hereditary cancer-predisposing syndrome
Pathogenic/Likely pathogenic
(Mar 8, 2016)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr9:21971033
GRCh38:
Chr9:21971034
CDKN2Anot specified, Hereditary cancer-predisposing syndromeUncertain significance
(Nov 17, 2015)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr9:21971036
GRCh38:
Chr9:21971037
CDKN2AHereditary cancer-predisposing syndromePathogenic/Likely pathogenic
(Sep 25, 2015)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr9:21971038
GRCh38:
Chr9:21971039
CDKN2Anot specified, Hereditary cancer-predisposing syndromeUncertain significance
(Jun 13, 2016)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr9:21971040
GRCh38:
Chr9:21971041
CDKN2Anot specified, Hereditary cutaneous melanoma, Hereditary cancer-predisposing syndrome
Conflicting interpretations of pathogenicity
(Feb 11, 2016)
criteria provided, conflicting interpretations
19.
GRCh37:
Chr9:21971057
GRCh38:
Chr9:21971058
CDKN2AMelanoma-pancreatic cancer syndrome, Melanoma, cutaneous malignant, susceptibility to, 2, not provided,
Hereditary cutaneous melanoma, Hereditary cancer-predisposing syndrome
Pathogenic, risk factor
(Feb 25, 2016)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr9:21971060
GRCh38:
Chr9:21971061
CDKN2Anot specified, Hereditary cutaneous melanomaGMAF:0.00020(A)Conflicting interpretations of pathogenicity
(Feb 4, 2016)
criteria provided, conflicting interpretations
21.
GRCh37:
Chr9:21971085
GRCh38:
Chr9:21971086
CDKN2Anot specified, Hereditary cutaneous melanomaGMAF:0.00020(T)Conflicting interpretations of pathogenicity, not provided
(Feb 17, 2016)
criteria provided, conflicting interpretations
22.
GRCh37:
Chr9:21971097
GRCh38:
Chr9:21971098
CDKN2Anot specified, Hereditary cutaneous melanoma, Hereditary cancer-predisposing syndrome
GMAF:0.00020(T)Conflicting interpretations of pathogenicity
(Apr 29, 2016)
criteria provided, conflicting interpretations
23.
GRCh37:
Chr9:21971105-21971118
GRCh38:
Chr9:21971106-21971119
CDKN2AHereditary cancer-predisposing syndromePathogenic
(Jul 11, 2013)
criteria provided, single submitter
24.
GRCh37:
Chr9:21971107
GRCh38:
Chr9:21971108
CDKN2Anot provided, Hereditary cancer-predisposing syndromeConflicting interpretations of pathogenicity
(Jun 1, 2016)
criteria provided, conflicting interpretations
25.
GRCh37:
Chr9:21971115-21971133
GRCh38:
Chr9:21971116-21971134
CDKN2AHereditary cutaneous melanoma, Hereditary cancer-predisposing syndromePathogenic
(Apr 26, 2015)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr9:21971139
GRCh38:
Chr9:21971140
CDKN2Anot specifiedUncertain significance
(Aug 26, 2014)
criteria provided, single submitter
27.
GRCh37:
Chr9:21971152
GRCh38:
Chr9:21971153
CDKN2Anot specified, Hereditary cutaneous melanoma, Hereditary cancer-predisposing syndrome
Conflicting interpretations of pathogenicity
(Feb 23, 2016)
criteria provided, conflicting interpretations
28.
GRCh37:
Chr9:21971161
GRCh38:
Chr9:21971162
CDKN2Anot specifiedUncertain significance
(Jan 20, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr9:21971172
GRCh38:
Chr9:21971173
CDKN2Anot specifiedUncertain significance
(Aug 7, 2014)
criteria provided, single submitter
30.
GRCh37:
Chr9:21971184
GRCh38:
Chr9:21971185
CDKN2Anot specified, Hereditary cutaneous melanoma, Hereditary cancer-predisposing syndrome
GMAF:0.00300(G)Benign/Likely benign, not provided
(Feb 8, 2016)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr9:21971188
GRCh38:
Chr9:21971189
CDKN2Anot specified, Hereditary cutaneous melanoma, Hereditary cancer-predisposing syndrome
Conflicting interpretations of pathogenicity
(Feb 24, 2016)
criteria provided, conflicting interpretations
32.
GRCh37:
Chr9:21971199
GRCh38:
Chr9:21971200
CDKN2AMelanoma, cutaneous malignant, susceptibility to, 2, not provided, Hereditary cutaneous melanoma,
Hereditary cancer-predisposing syndrome
Pathogenic, risk factor
(Mar 25, 2016)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr9:21971208
GRCh38:
Chr9:21971209
CDKN2AHereditary cancer-predisposing syndromePathogenic
(Jul 18, 2015)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr9:21974640
GRCh38:
Chr9:21974641
CDKN2Anot specified, not provided, Hereditary cutaneous melanoma
GO-ESP:0.00292(G)
GMAF:0.00120(G)
Conflicting interpretations of pathogenicity, not provided
(Mar 1, 2016)
criteria provided, conflicting interpretations
35.
GRCh37:
Chr9:21974681
GRCh38:
Chr9:21974682
CDKN2Anot specified, Hereditary cutaneous melanoma, Hereditary cancer-predisposing syndrome
GMAF:0.00020(G)Conflicting interpretations of pathogenicity
(Mar 25, 2016)
criteria provided, conflicting interpretations
36.
GRCh37:
Chr9:21974695-21974696
GRCh38:
Chr9:21974696-21974697
CDKN2AHereditary cancer-predisposing syndromePathogenic
(Sep 10, 2014)
criteria provided, single submitter
37.
GRCh37:
Chr9:21974738
GRCh38:
Chr9:21974739
CDKN2Anot specifiedUncertain significance
(Nov 3, 2015)
criteria provided, single submitter
38.
GRCh37:
Chr9:21974756
GRCh38:
Chr9:21974757
CDKN2AMelanoma, cutaneous malignant, susceptibility to, 2, not provided, Hereditary cancer-predisposing syndrome
Pathogenic, risk factor
(Feb 5, 2016)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr9:21974768
GRCh38:
Chr9:21974769
CDKN2Anot specified, Hereditary cutaneous melanomaUncertain significance
(Jan 20, 2016)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr9:21974780
GRCh38:
Chr9:21974781
CDKN2Anot provided, Hereditary cutaneous melanomaConflicting interpretations of pathogenicity
(May 19, 2016)
criteria provided, conflicting interpretations
41.
GRCh37:
Chr9:21974780-21974781
GRCh38:
Chr9:21974781-21974782
CDKN2AHereditary cancer-predisposing syndromePathogenic
(Feb 10, 2014)
criteria provided, single submitter
42.
GRCh37:
Chr9:21974782
GRCh38:
Chr9:21974783
CDKN2Anot specifiedUncertain significance
(Oct 9, 2014)
criteria provided, single submitter
43.
GRCh37:
Chr9:21974789
GRCh38:
Chr9:21974790
CDKN2Anot specified, Hereditary cancer-predisposing syndromeUncertain significance
(Mar 17, 2016)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr9:21974795-21974818
GRCh38:
Chr9:21974796-21974819
CDKN2Anot provided, Hereditary cutaneous melanoma, Hereditary cancer-predisposing syndrome
Pathogenic/Likely pathogenic
(Oct 8, 2015)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr9:21974828
GRCh38:
Chr9:21974829
CDKN2Anot specified, Hereditary cancer-predisposing syndromeGMAF:0.00420(T)Benign/Likely benign
(Oct 4, 2015)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr9:21974851
GRCh38:
Chr9:21974852
CDKN2Anot specified, Hereditary cutaneous melanoma, Hereditary cancer-predisposing syndrome
GMAF:0.00860(A)Benign/Likely benign
(Mar 27, 2016)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr9:21974857
GRCh38:
Chr9:21974858
CDKN2Anot specifiedUncertain significance
(Dec 29, 2015)
criteria provided, single submitter
48.
GRCh37:
Chr9:21974860
GRCh38:
Chr9:21974861
CDKN2Anot specifiedGMAF:0.00020(G)Uncertain significance
(Sep 15, 2015)
criteria provided, single submitter
49.
GRCh37:
Chr9:21974860
GRCh38:
Chr9:21974861
CDKN2Anot provided, Hereditary cutaneous melanomaGMAF:0.00020(G)Pathogenic
(Sep 19, 2015)
criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr9:21994123
GRCh38:
Chr9:21994124
CDKN2Anot specifiedUncertain significance
(Jan 20, 2016)
criteria provided, single submitter
51.
GRCh37:
Chr9:21994237
GRCh38:
Chr9:21994238
CDKN2Anot specifiedUncertain significance
(Oct 20, 2015)
criteria provided, single submitter
52.
GRCh37:
Chr9:21994262
GRCh38:
Chr9:21994263
CDKN2Anot specifiedBenign
(Mar 14, 2014)
criteria provided, single submitter
53.
GRCh37:
Chr9:21994318
GRCh38:
Chr9:21994319
CDKN2Anot specifiedUncertain significance
(Jun 19, 2015)
criteria provided, single submitter
54.
GRCh37:
Chr9:21994358
GRCh38:
Chr9:21994359
CDKN2Anot specifiedLikely benign
(Nov 16, 2015)
criteria provided, single submitter
55.
GRCh37:
Chr9:213161-39092820
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
56.
GRCh37:
Chr9:163131-38763958
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
57.
GRCh37:
Chr9:213161-47212321
ACO1, PLIN2, ALDH1B1, NUDT2, AQP3, AQP7, BAG1, CA9, CCIN, CD72, CDKN2A, CDKN2B, CLTA, CNTFR, DMRT1, ELAVL2, FANCG, MLANA, GALT, B4GALT1, GLDC, DNAJA1, IFNA1, IFNA2, IFNA4, IFNA5, IFNA6, IFNA7, IFNA8, IFNA10, IFNA13, IFNA14, IFNA16, IFNA17, IFNA21, IFNB1, IFNW1, IL11RA, INSL4, JAK2, MLLT3, MTAP, NDUFB6, NFIB, NFX1, NPR2, PAX5, PRSS3, PTPRD, RFX3, RLN1, RLN2, RMRP, RPS6, CCL19, CCL21, SH3GL2, SHB, SLC1A1, SMARCA2, SNAPC3, TEK, TESK1, TLN1, TPM2, TYRP1, VCP, VLDLR, RECK, MPDZ, CER1, PLAA, GRHPR, RGP1, MELK, RUSC2, ZBTB5, PUM3, GNE, RCL1, TOPORS, SIGMAR1, CREB3, UNC13B, DMRT2, RRAGA, CCL27, PSIP1, INSL6, PTENP1, DCTN3, FRMPD1, KDM4C, KANK1, PHF24, DDX58, SLC24A2, DNAJB5, DCAF12, ZNF658, SPAG8, FBXO10, RANBP6, DNAI1, SIT1, SPINK4, CD274, STOML2, AK3, EXOSC3, UBAP1, CHMP5, TMEM8B, EQTN, BNC2, HAUS6, APTX, CNTLN, FOCAD, UBE2R2, SPATA6L, SMU1, CDC37L1, DENND4C, UBAP2, PLGRKT, KLHL9, OR2S2, KIAA1161, RIC1, GBA2, DMRT3, DMRTA1, POLR1E, LRRC19, NOL6, DCAF10, MOB3B, CAAP1, CNTNAP3, ERMP1, IFT74, FAM214B, PDCD1LG2, DOCK8, ZCCHC7, HINT2, C9orf24, PIGO, ARHGEF39, TPD52L3, IL33, TMEM261, SLC25A51, ADAMTSL1, UHRF2, TAF1L, ARID3C, RPP25L, C9orf131, RNF38, GLIPR2, C9orf66, LINGO2, TTC39B, TRMT10B, SAXO1, FREM1, KIAA2026, KCNV2, GLIS3, C9orf72, CCDC171, FAM219A, CCDC107, ANKRD18A, FAM205A, TUSC1, LURAP1L, IFNE, ZDHHC21, ACER2, KIF24, IGFBPL1, ENHO, SPATA31A6, FAM221B, OR13J1, HACD4, TMEM215, TOMM5, PLPP6, MIR101-2, MIR31, ANKRD20A3, ANKRD20A2, ANKRD18B, HRCT1, SPATA31A1, MSMP, FAM27D1, SPATA31A3, SPATA31A5, CBWD7, CNTNAP3B, FAM166B, CDKN2B-AS1, IZUMO3
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
58.
GRCh37:
Chr9:163131-141122114
ABCA1, ABCA2, ABL1, ABO, ACO1, PLIN2, AK1, ALAD, ALDH1A1, ALDH1B1, ALDOB, AMBP, ANXA1, NUDT2, APBA1, AQP3, AQP7, ASS1, AUH, BAAT, BAG1, KLF9, C5, C8G, CA9, CACNA1B, CCIN, KYAT1, TNFSF8, ENTPD2, CD72, CDK9, CDKN2A, CDKN2B, CEL, CKS2, CLTA, CNTFR, COL5A1, COL15A1, SLC31A1, SLC31A2, CRAT, CTSL, CTSV, CYLC2, DAPK1, BRINP1, DBH, SARDH, DNM1, DMRT1, ECM2, TOR1A, LPAR1, S1PR3, MEGF9, ELAVL2, ENDOG, ENG, STOM, FANCC, FANCG, FBP1, FKTN, FCN1, FCN2, FOXE1, MLANA, FPGS, FXN, NR5A1, FUT7, GALT, GAS1, NR6A1, GCNT1, GGTA1P, B4GALT1, GLDC, GLE1, GNAQ, GNG10, GOLGA1, GOLGA2, GPR21, RAPGEF1, GRIN1, GSN, HNRNPK, HSD17B3, DNAJA1, HSPA5, TNC, IARS, IFNA1, IFNA2, IFNA4, IFNA5, IFNA6, IFNA7, IFNA8, IFNA10, IFNA13, IFNA14, IFNA16, IFNA17, IFNA21, IFNB1, IFNW1, IL11RA, INSL4, JAK2, LCN1, LCN2, LMX1B, MLLT3, MTAP, MUSK, NCBP1, NDUFA8, NDUFB6, NFIB, NFIL3, NFX1, NINJ1, NOTCH1, NPR2, NTRK2, ROR2, ODF2, OMD, OGN, ORM1, ORM2, PAEP, PAPPA, PAX5, PDCL, PBX3, PCSK5, PGM5, PHF2, PTPA, PPP3R2, PPP6C, PRKACG, PRSS3, PSMB7, PSMD5, PTCH1, PTGDS, PTGS1, PTPN3, PTPRD, RAD23B, RALGDS, RFX3, RGS3, RLN1, RLN2, RMRP, RORB, RPL7A, RPL12, RPS6, RXRA, CCL19, CCL21, SET, SH3GL2, SHB, SLC1A1, SMARCA2, SNAPC3, SNAPC4, SPTAN1, STXBP1, SURF1, SURF2, SURF4, MED22, SURF6, SYK, TAL2, TEK, TESK1, TGFBR1, TLE1, TLE4, TLN1, TLR4, TMOD1, TPM2, TRAF1, TRAF2, TSC1, TTF1, TXN, TYRP1, UGCG, VAV2, VCP, VLDLR, CORO2A, XPA, ZFP37, ZNF79, ZNF189, ZFAND5, NR4A3, BRD3, NUP214, LHX3, GFI1B, PIP5K1B, RECK, IKBKAP, CDC14B, TMEFF1, SSNA1, EDF1, CTNNAL1, MPDZ, FBP2, DPM2, FUBP3, CLIC3, PRPF4, KLF4, GTF3C5, GTF3C4, CER1, LHX2, PLAA, GRHPR, FAM189A2, TJP2, MED27, PTGES, ATP6V1G1, GABBR2, GDA, GNA14, RALGPS1, ADAMTSL2, RGP1, TRIM14, MELK, RUSC2, PPP1R26, SEC16A, ZBTB5, PUM3, TNFSF15, PTBP3, GNE, SH2D3C, RCL1, TOPORS, RABEPK, SIGMAR1, LAMC3, TUBB4B, UBAC1, OLFM1, ZER1, CREB3, UNC13B, SEMA4D, ANP32B, AGPAT2, SPTLC1, POMT1, SMC2, DMRT2, RRAGA, ZBTB6, NEK6, SDCCAG3, NOXA1, CCL27, USP20, ACTL7B, ACTL7A, GADD45G, SPIN1, SEC61B, SLC27A4, SLC35D2, CNTRL, WDR5, SPACA9, ADAMTS13, CACFD1, PSIP1, INSL6, SLC2A6, PTENP1, AKAP2, RPL35, MAN1B1, DCTN3, FRMPD1, DOLK, ZNF510, HABP4, PTGR1, TRIM32, FNBP1, SETX, ERP44, KDM4C, ZBTB43, SMC5, KANK1, FAM120A, PMPCA, VPS13A, ASTN2, AGTPBP1, BICD2, FKBP15, PHF24, KIAA0368, EXOSC2, NCS1, TDRD7, SLC44A1, ANGPTL2, NUP188, CDK20, DDX58, RABGAP1, TMEM2, TMEM245, FRRS1L, SLC24A2, CIZ1, DNAJB5, DCAF12, WHRN, NELFB, NIPSNAP3A, NSMF, GPSM1, GAPVD1, PHF19, ZNF658, SPATA31A7, FBXW2, SPAG8, OR1J4, OR2K2, FBXO10, GBGT1, LHX6, OSTF1, OR1L3, OR1L1, OR1J2, RANBP6, TRUB2, DNAI1, ST6GALNAC4, INVS, NDOR1, SIT1, SPINK4, TOR1B, TOR2A, NTMT1, PHPT1, CD274, ANAPC2, PKN3, DPP7, PSAT1, UBQLN1, SLC2A8, OBP2B, OBP2A, ST6GALNAC6, STOML2, DEC1, PCA3, AK3, EXOSC3, ABHD17B, MRPS2, COQ4, CERCAM, EGFL7, UBAP1, GOLM1, PRRX2, SPOUT1, CHMP5, TRMO, RAB14, TMEM8B, C9orf78, SHC3, POLE3, NANS, FBXW5, MRPL50, RC3H2, EPB41L4B, EQTN, TBC1D13, NUTM2F, DIRAS2, BNC2, HAUS6, ASPN, BSPRY, APTX, TOR4A, CNTLN, TEX10, FOCAD, UBE2R2, EXD3, FAM206A, NMRK1, STX17, NOL8, SPATA6L, C9orf40, TMEM38B, SMU1, RFK, NIPSNAP3B, STRBP, TBC1D2, HEMGN, KIF27, CDC37L1, DENND4C, RABL6, CDK5RAP2, UBAP2, PLGRKT, CBWD1, KLHL9, BARX1, RNF20, LRRC8A, INPP5E, NPDC1, OR2S2, BARHL1, SH3GLB2, REXO4, DOLPP1, KIAA1161, KCNT1, RIC1, ZBTB26, GBA2, DENND1A, GPR107, SLC46A2, INIP, ZNF462, DMRT3, PRDM12, NAA35, DMRTA1, SLC28A3, CARD9, SUSD1, POLR1E, IPPK, DDX31, FAM129B, LRRC19, MRPL41, NOL6, WNK2, SECISBP2, C9orf16, MAPKAP1, DCAF10, ZCCHC6, GALNT12, EHMT1, MOB3B, CAAP1, CNTNAP3, ERMP1, SVEP1, RMI1, TRPM3, PTGES2, IFT74, FAM214B, GKAP1, PDCD1LG2, AKNA, URM1, ISCA1, DOCK8, ARPC5L, HDHD3, AIF1L, UCK1, ZNF484, FSD1L, CEP78, ZCCHC7, ANKRD20A1, GARNL3, HSDL2, C9orf64, CARD19, TMEM246, NTNG2, MFSD14B, HINT2, C9orf24, PIGO, PRRC2B, PLPP7, ZDHHC12, MIGA2, ARHGEF39, C9orf3, FIBCD1, CCDC183, SNHG7, TMEM141, COL27A1, ALG2, FGD3, MVB12B, TPD52L3, WDR34, SAPCD2, C9orf69, LRSAM1, IL33, TMEM261, MSANTD3, UAP1L1, SLC25A51, MRRF, RBM18, ARRDC1, DPH7, ADAMTSL1, TMEM203, KIF12, PALM2, SLC25A25, WDR31, ZNF618, UHRF2, FAM122A, ZMYND19, GRIN3A, TMC1, RNF183, NACC2, C9orf116, CARNMT1, C9orf57, C9orf85, C9orf135, LCN8, FAM69B, PTRH1, PIP5KL1, TAF1L, PTPDC1, PRSS47, ARID3C, RPP25L, C9orf131, OR13C5, OR13C8, OR13C3, OR13C4, OR13F1, OR1L8, OR1N2, OR1N1, ASB6, TRPM6, SLC34A3, RNF38, GLIPR2, DAB2IP, CAMSAP1, C9orf62, C9orf66, LINGO2, NXNL2, C9orf163, MAMDC4, LCN6, AK8, OR1Q1, TTLL11, RASEF, TTC39B, TRMT10B, TTC16, FAM120AOS, SAXO1, FREM1, KIAA2026, ZNF483, C9orf84, KIAA1958, TSTD2, ZNF782, PRUNE2, STKLD1, KCNV2, OLFML2A, TMEM252, QSOX2, GLIS3, ZNF883, ZNF169, AAED1, ZNF367, TMEM268, C9orf72, CCDC171, NAIF1, FAM219A, CCDC107, LINC00537, ANKS6, SUSD3, CBWD5, CDC26, ANKRD18A, PHYHD1, MORN5, OR1L4, TXNDC8, HMCN2, MAMDC2, FRMD3, C9orf43, FAM205A, CRB2, SCAI, CFAP157, C9orf47, SPATA31E1, LCN12, C9orf142, TPRN, TUSC1, FAM78A, LURAP1L, OR13C9, OR13D1, FOXD4L3, IFNE, ZDHHC21, ACER2, ADGRD2, QRFP, OR1J1, OR1B1, KIF24, IGFBPL1, MURC, FOXD4L4, GLT6D1, ENHO, PTAR1, ERCC6L2, SWI5, C9orf50, PNPLA7, CYSRT1, ENTPD8, SPATA31A6, SPATA31D4, SPATA31D3, SPATA31D1, C9orf153, IER5L, CFAP77, LCN15, C9orf172, LRRC26, TMEM8C, FAM221B, OR13J1, OR13C2, OR1L6, OR5C1, OR1K1, LCN9, FAM102A, HACD4, TMEM215, TOMM5, C9orf170, CENPP, C9orf152, SNX30, TTLL11-IT1, WDR38, LCNL1, C9orf139, FAM166A, SOHLH1, PLPP6, ZBTB34, MIRLET7A1, MIRLET7D, MIRLET7F1, MIR101-2, MIR126, MIR181A2, MIR181B2, MIR199B, MIR204, MIR23B, MIR24-1, MIR27B, MIR31, MIR32, MIR7-1, C9orf106, IDNK, LCN10, ANKRD20A3, ANKRD20A2, SPATA31C1, NUTM2G, ANKRD18B, STPG3, NRARP, FOXB2, CBWD3, C9orf129, PALM2-AKAP2, PAPPA-AS1, DNAJC25, DNAJC25-GNG10, NRON, FAM163B, RNF224, CBWD6, SPATA31C2, HRCT1, SPATA31A1, FOXD4L6, FOXD4L5, MSMP, FAM27D1, RNF208, SPATA31A3, SPATA31A5, CBWD7, DNLZ, CNTNAP3B, ANKRD20A4, FAM166B, CDKN2B-AS1, IZUMO3, FAM157B, RNU6ATAC, MIR181A2HG, MIR2861, CCDC180, TMEM210, DAPK1-IT1, MSANTD3-TMEFF1, BANCR, C9orf41-AS1
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
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