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Items: 37

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
SALL1Townes syndromePathogenic
(Dec 15, 2007)
no assertion criteria provided
2.
SALL1Townes syndromePathogenic
(Dec 15, 2007)
no assertion criteria provided
3.
SALL1Townes syndromePathogenic
(Aug 15, 2001)
no assertion criteria provided
4.
SALL1Townes-Brocks-branchiootorenal-like syndromePathogenic
(Jun 1, 2000)
no assertion criteria provided
5.
SALL1Townes syndromePathogenic
(Jan 1, 1999)
no assertion criteria provided
6.
SALL1Townes syndromePathogenic
(Feb 1, 1999)
no assertion criteria provided
7.
SALL1Townes syndromePathogenic
(Feb 1, 1999)
no assertion criteria provided
8.
GRCh37:
Chr16:46615804-90142285
AARS, ADCY7, AP1G1, AFG3L1P, AGRP, AMFR, APRT, ZFHX3, BBS2, GAS8-AS1, CA5A, CA7, CALB2, CBFA2T3, CBFB, CBLN1, CDH1, CDH3, CDH5, CDH8, CDH11, CDH13, CDH15, CDH16, CES1, CETP, CNGB1, COX4I1, CSNK2A2, CTRB1, CTRL, CYBA, CYLD, DHODH, NQO1, DYNC1LI2, DPEP1, E2F4, FANCA, FOXF1, FOXL1, FOXC2, GALNS, GAS8, GCSH, GLG1, GNAO1, GOT2, NR3C1P1, HAS3, HP, HPR, HSBP1, HSD11B2, HSD17B2, HSF4, IRF8, KARS, KIFC3, LCAT, MAF, MC1R, CHST6, MMP2, MMP15, MT1A, MT1B, MT1E, MT1F, MT1G, MT1H, MT1JP, MT1M, MT1L, MT1X, MT2A, MT3, MVD, NFATC3, CHMP1A, PHKB, PLCG2, POLR2C, PSKH1, PSMB10, PSMD7, RBL2, RPL13, RRAD, SALL1, CCL17, CCL22, CX3CL1, SIAH1, ST3GAL2, SLC6A2, SLC9A5, SLC12A3, SLC12A4, SNTB2, SPG7, TAT, TERF2, TK2, ZNF19, ZNF23, GAN, SLC7A5, CDK10, TRADD, MBTPS1, CES2, NAE1, NOL3, TAF1C, SLC7A6, USP10, ATP6V0D1, ADGRG1, BCAR1, VPS9D1, N4BP1, NUP93, HERPUD1, KIAA0513, PIEZO1, DHX38, IST1, ATP2C2, CLEC3A, CHST4, MPHOSPH6, NUTF2, IRX5, DNAJA2, KATNB1, EMC8, TUBB3, CFDP1, CTCF, NFAT5, NUDT21, WWP2, PRDM7, DDX19B, GABARAPL2, MON1B, TCF25, CNOT1, PHLPP2, ZNF423, ZCCHC14, GSE1, ATMIN, RPGRIP1L, COTL1, MLYCD, SF3B3, CES3, ADAT1, CHST5, ARL2BP, ORC6, EDC4, PLA2G15, COG4, PLEKHG4, LRRC29, CPNE7, VPS4A, IL17C, TOX3, NOB1, CCDC113, TMEM208, CFAP20, FHOD1, BRD7, ANKRD11, ZDHHC1, OSGIN1, PARD6A, PLLP, CKLF, NIP7, FAM96B, GINS2, TPPP3, TRAPPC2L, WWOX, BCO1, TERF2IP, PRMT7, NECAB2, KLHDC4, HYDIN, DEF8, DUS2, CHTF8, LPCAT2, TXNL4B, BANP, HEATR3, PDPR, RFWD3, SLC38A7, OGFOD1, LRRC36, DDX19A, FBXL8, SMPD3, ZNF821, ZDHHC7, VAC14, DOK4, VPS35, CMTR2, DDX28, TSNAXIP1, CENPN, CMC2, COQ9, CIAPIN1, THAP11, JPH3, PDP2, ZNF319, RANBP10, VAT1L, TLDC1, WFDC1, NOD2, PDF, DPEP2, DPEP3, PAPD5, AKTIP, MTHFSD, GINS3, NDRG4, ACD, DBNDD1, FTO, FA2H, IRX6, IRX3, FAM65A, TMEM231, TANGO6, USB1, WDR59, ELMO3, KLHL36, FBXO31, SHCBP1, SETD6, ESRP2, FAM192A, CENPT, CHD9, C16orf70, CYB5B, CMIP, ITFG1, GFOD2, CDT1, MAP1LC3B, NETO2, PMFBP1, DYNLRB2, HSDL1, CRISPLD2, LONP2, ENKD1, SLC7A6OS, NLRC5, DRC7, CAPNS2, COG8, SPIRE2, MT4, ZNF469, GPT2, B3GNT9, UTP4, ZNRF1, ABCC11, NKD1, CNTNAP4, RSPRY1, MYLK3, MARVELD3, MTSS1L, CENPBD1, ZNF276, CCDC102A, KCNG4, SDR42E1, ABCC12, CMTM1, PKD1L2, RNF166, EXOSC6, C16orf46, DNAAF1, NRN1L, CMTM3, C16orf78, SPATA2L, SPATA33, ZC3H18, CDYL2, SNX20, TMEM170A, SLC38A8, ZFP90, CARMIL2, KCTD19, CMTM4, CMTM2, BEAN1, SLC22A31, IL34, TMED6, ZFPM1, ADAD2, ZFP1, ADAMTS18, LDHD, FUK, MLKL, ZNF778, ACSF3, CPNE2, ADGRG5, PRSS54, CES5A, ADGRG3, CNEP1R1, TERB1, CES4A, EXOC3L1, NUDT7, CLEC18C, SNAI3, FAM92B, ATXN1L, PKD1L3, CLEC18A, CTU2, TEPP, C16orf87, C16orf97, C16orf86, C16orf47, PABPN1L, LOC400541, FENDRR, C16orf74, MIR138-2, MIR140, NPIPB15, CTRB2, MIR328, CLEC18B, MT1IP, KIAA0895L, SYCE1L, LINC01082, C16orf95, CKLF-CMTM1, LOC101927817, LOC101928417, LOC101928737
Ductal breast carcinomaUncertain significance
(Jul 20, 2015)
no assertion criteria provided
9.
GRCh37:
Chr16:48576994-53913828
Ductal breast carcinomaUncertain significance
(Jul 20, 2015)
no assertion criteria provided
10.
GRCh37:
Chr16:51171126
GRCh38:
Chr16:51137215
SALL1not specifiedGMAF:0.00540(C)Benign
(Dec 31, 2014)
criteria provided, single submitter
11.
GRCh37:
Chr16:51172973
GRCh38:
Chr16:51139062
SALL1Townes syndromePathogenic
(Jan 14, 2016)
no assertion criteria provided
12.
GRCh37:
Chr16:51173013
GRCh38:
Chr16:51139102
SALL1not providedGMAF:0.00040(C)Uncertain significance
(May 19, 2015)
criteria provided, single submitter
13.
GRCh37:
Chr16:51173584
GRCh38:
Chr16:51139673
SALL1not providedUncertain significance
(Jan 29, 2015)
criteria provided, single submitter
14.
GRCh37:
Chr16:51173850
GRCh38:
Chr16:51139939
SALL1not providedUncertain significance
(Jun 1, 2015)
criteria provided, single submitter
15.
GRCh37:
Chr16:51174255
GRCh38:
Chr16:51140344
SALL1not specifiedGMAF:0.00460(G)Likely benign
(Mar 6, 2015)
criteria provided, single submitter
16.
GRCh37:
Chr16:51174877
GRCh38:
Chr16:51140966
SALL1Townes syndromePathogenic
(May 15, 2007)
no assertion criteria provided
17.
GRCh37:
Chr16:51174989
GRCh38:
Chr16:51141078
SALL1not providedUncertain significance
(Apr 9, 2015)
criteria provided, single submitter
18.
GRCh37:
Chr16:51175018
GRCh38:
Chr16:51141107
SALL1Townes syndromePathogenic
(Feb 1, 1999)
no assertion criteria provided
19.
GRCh37:
Chr16:51175018
GRCh38:
Chr16:51141107
SALL1Townes syndromePathogenic
(Feb 1, 1999)
no assertion criteria provided
20.
GRCh37:
Chr16:51175166
GRCh38:
Chr16:51141255
SALL1Townes-Brocks-branchiootorenal-like syndromePathogenic
(Feb 15, 2004)
no assertion criteria provided
21.
GRCh37:
Chr16:51175184
GRCh38:
Chr16:51141273
SALL1Townes syndromePathogenic
(Apr 1, 2015)
criteria provided, single submitter
22.
GRCh37:
Chr16:51175307
GRCh38:
Chr16:51141396
SALL1Townes syndromePathogenic
(Jan 14, 2016)
no assertion criteria provided
23.
GRCh37:
Chr16:51175655-51175656
GRCh38:
Chr16:51141744-51141745
SALL1not specifiedLikely benign
(Nov 12, 2014)
criteria provided, single submitter
24.
GRCh37:
Chr16:51175656-51175658
GRCh38:
Chr16:51141745-51141747
SALL1not providedUncertain significance
(Jan 5, 2015)
criteria provided, single submitter
25.
GRCh37:
Chr16:51175841
GRCh38:
Chr16:51141930
SALL1not providedGMAF:0.00460(C)Benign
(Nov 14, 2014)
criteria provided, single submitter
26.
GRCh37:
Chr16:49719432-68435615
GRCh38:
Chr16:49685521-68401712
ADCY7, AGRP, AMFR, BBS2, CA7, CBFB, CDH5, CDH8, CDH11, CDH16, CES1, CETP, CNGB1, CSNK2A2, CTRL, CYLD, DYNC1LI2, E2F4, GNAO1, GOT2, HSD11B2, HSF4, KIFC3, LCAT, MMP2, MMP15, MT1A, MT1B, MT1E, MT1F, MT1G, MT1H, MT1JP, MT1M, MT1L, MT1X, MT2A, MT3, NFATC3, POLR2C, PSKH1, PSMB10, RBL2, RRAD, SALL1, CCL17, CCL22, CX3CL1, SLC6A2, SLC9A5, SLC12A3, SLC12A4, TK2, TRADD, CES2, NAE1, NOL3, SLC7A6, ATP6V0D1, ADGRG1, NUP93, HERPUD1, NUTF2, IRX5, KATNB1, CTCF, NUDT21, CNOT1, ZNF423, RPGRIP1L, CES3, ARL2BP, EDC4, PLA2G15, PLEKHG4, DKFZP434H168, LRRC29, TOX3, CCDC113, TMEM208, CFAP20, FHOD1, BRD7, ZDHHC1, PARD6A, PLLP, CKLF, FAM96B, TPPP3, PRMT7, DUS2, LPCAT2, HEATR3, SLC38A7, OGFOD1, LRRC36, FBXL8, SMPD3, DOK4, DDX28, TSNAXIP1, COQ9, CIAPIN1, THAP11, PDP2, ZNF319, RANBP10, NOD2, DPEP2, DPEP3, PAPD5, AKTIP, GINS3, NDRG4, ACD, FTO, IRX6, IRX3, FAM65A, USB1, ELMO3, SETD6, ESRP2, FAM192A, CENPT, CHD9, C16orf70, GFOD2, ENKD1, SLC7A6OS, NLRC5, DRC7, CAPNS2, MT4, B3GNT9, NKD1, RSPRY1, CCDC102A, CMTM1, NRN1L, CMTM3, SNX20, CARMIL2, KCTD19, CMTM4, CMTM2, BEAN1, CPNE2, ADGRG5, PRSS54, CES5A, ADGRG3, CNEP1R1, TERB1, CES4A, EXOC3L1, CASC22, LOC283856, LINC00922, TEPP, C16orf97, LOC388282, C16orf86, MIR138-2, MIR328, CASC16, LOC643802, CRNDE, MT1IP, KIAA0895L, SNORA46, SNORA50A, LOC729159, LOC100131303, TRL-CAG2-2, TRL-CAG2-1, RNU6-21P, MIR3181, MIR3935, LINC00919, FTO-IT1, LINC00920, LOC100505942, CKLF-CMTM1, LOC100996338, LOC100996345, LOC101927272, LOC101927334, LINC01571, LOC101927480, LOC101927580, LOC101927650, BEAN1-AS1, MIR6771, MIR6772, MIR6773, MIR6863, LOC102467079, LOC102723373, LOC105371267, LOC106699570, LOC107984813
See casesPathogenic
(Mar 18, 2014)
no assertion criteria provided
27.
GRCh37:
Chr16:49604464-53500977
GRCh38:
Chr16:49570553-53467065
See casesPathogenic
(Aug 29, 2011)
no assertion criteria provided
28.
GRCh37:
Chr16:46500741-52456082
GRCh38:
Chr16:46466829-52422170
See casesPathogenic
(Apr 8, 2011)
no assertion criteria provided
29.
GRCh37:
Chr16:46500741-52389705
GRCh38:
Chr16:46466829-52355793
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
30.
GRCh37:
Chr16:50818240-55600627
GRCh38:
Chr16:50784329-55566715
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
31.
GRCh37:
Chr16:49774718-51910531
GRCh38:
Chr16:49740807-51876620
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
32.
GRCh37:
Chr16:48190504-52254286
GRCh38:
Chr16:48156593-52220374
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
33.
GRCh37:
Chr16:47284555-54155388
GRCh38:
Chr16:47250644-54121476
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
34.
GRCh37:
Chr16:46505432-52439868
GRCh38:
Chr16:46471520-52405956
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
35.
GRCh37:
Chr16:46500741-51707107
GRCh38:
Chr16:46466829-51673196
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
36.
GRCh37:
Chr16:46500741-51973216
GRCh38:
Chr16:46466829-51939304
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
37.
GRCh37:
Chr16:46500741-52348090
GRCh38:
Chr16:46466829-52314178
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
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