SALL1[gene] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 11843801.	Single allele GRCh38: Chr16:46385317-61223349	NLRC5, NOD2, NUDT21, NUP93, POLR2C, PRSS54, PSME3IP1, NUP93-DT, ORC6, PHKB, RBL2, RPGRIP1L, RSPRY1, SALL1, OGFOD1, PLLP, MIR6771, MIR6772, MIR6863, MMP15, MMP2, MMP2-AS1, MT1A, MT1B, MT1E, MT1F, MT1G, MT1H, MT1M, MT1X, MT2A, MT3, MT4, MYLK3, N4BP1, NDRG4, NETO2, NKD1, SETD6, SHCBP1, SIAH1, SLC12A3, SLC38A7, SLC6A2, SNORA46, SNORA50A, SNORD148, SNX20, TENT4B, TEPP, TOX3, TRL-CAG2-1, TRL-CAG2-2, USB1, VPS35, ZNF319, ZNF423, ABCC11, ABCC12, ADCY7, ADGRG1, ADGRG3, ADGRG5, AKTIP, AMFR, ARL2BP, BBS2, BRD7, C16orf78, C16orf87, CAPNS2, CASC16, CASC22, CBLN1, CCDC102A, CCDC113, CCL17, CCL22, CES1, CES5A, CETP, CFAP20, CHD9, CHD9NB, CIAPIN1, CNEP1R1, CNGB1, CNOT1, COQ9, CPNE2, CRNDE, CSNK2A2, CX3CL1, CYLD, CYLD-AS1, DNAJA2, DOK4, DRC7, FTO, FTO-IT1, GINS3, GNAO1, GNAO1-AS1, GNAO1-DT, GOT2, GPT2, HEATR3, HERPUD1, HNRNPA1L3, IRX3, IRX5, IRX6, ITFG1, ITFG1-AS1, KATNB1, KIFC3, LINC00919, LINC01571, LINC02127, LINC02128, LINC02133, LINC02134, LINC02137, LINC02140, LINC02141, LINC02168, LINC02169, LINC02178, LINC02179, LINC02180, LINC02192, LINC02911, LINC03064, LOC100507577, LOC101927272, LOC101927480, LOC102723373, LOC110120574, LOC110120575, LOC110120576, LOC110120577, LOC110120578, LOC110120579, LOC110120580, LOC110120581, LOC110120582, LOC110120583, LOC110120584, LOC110120585, LOC110120586, LOC110120587, LOC110120588, LOC110120823, LOC110120826, LOC110120835, LOC110120836, LOC110120837, LOC110120838, LOC110120839, LOC110120840, LOC110120841, LOC110120912, LOC110120939, LOC110121339, LOC110121356, LOC112449709, LOC112449712, LOC112449713, LOC112449714, LOC112449715, LOC112449716, LOC112449717, LOC112469003, LOC112469004, LOC112469005, LOC112469006, LOC112469007, LOC112469008, LOC112469009, LOC112469010, LOC112469011, LOC112469012, LOC112469013, LOC112469014, LOC113939952, LOC113939953, LOC113939954, LOC121587544, LOC121587545, LOC121587546, LOC121587547, LOC121587548, LOC121847987, LOC121847988, LOC121847989, LOC125146444, LOC125177302, LOC125177304, LOC125177305, LOC125177306, LOC125177307, LOC125177308, LOC125177309, LOC125177311, LOC125177312, LOC125177313, LOC125177314, LOC125177315, LOC125177316, LOC125177317, LOC125177318, LOC125177319, LOC125177320, LOC125177322, LOC125177323, LOC125177324, LOC125177325, LOC125177326, LOC125177327, LOC125177328, LOC126862336, LOC126862337, LOC126862338, LOC126862339, LOC126862340, LOC126862341, LOC126862342, LOC126862343, LOC126862344, LOC126862345, LOC126862346, LOC126862347, LOC126862348, LOC126862349, LOC126862350, LOC126862351, LOC126862352, LOC126862353, LOC126862354, LOC126862355, LOC126862356, LOC126862357, LOC126862358, LOC126862359, LOC126862360, LOC126862361, LOC126862362, LOC126862363, LOC126862364, LOC388282, LONP2, LPCAT2, MIR138-2, MIR3181, MIR3935		not provided	Pathogenic (Jul 17, 2020)	criteria provided, single submitter
Select item 1482312.	GRCh38/hg38 16q11.2-12.1(chr16:46466829-52422170)x1 GRCh37: Chr16:46500741-52456082 GRCh38: Chr16:46466829-52422170	ABCC11, ABCC12, ADCY7, BRD7, C16orf78, C16orf87, CASC22, CBLN1, CNEP1R1, CYLD, CYLD-AS1, DNAJA2, GPT2, HEATR3, HNRNPA1L3, ITFG1, ITFG1-AS1, LINC00919, LINC01571, LINC02127, LINC02128, LINC02133, LINC02134, LINC02168, LINC02178, LINC02179, LINC02180, LINC02192, LINC02911, LOC100507577, LOC101927272, LOC110120582, LOC110120583, LOC110120584, LOC110120585, LOC110120586, LOC110120587, LOC110120588, LOC110120823, LOC110120826, LOC110120836, LOC110120840, LOC110120841, LOC110120912, LOC110120939, LOC112449709, LOC112449712, LOC112449713, LOC112449714, LOC112449715, LOC113939952, LOC113939953, LOC113939954, LOC121587544, LOC121587545, LOC121847987, LOC125146444, LOC125177302, LOC125177304, LOC125177305, LOC125177306, LOC125177307, LOC125177308, LOC125177309, LOC126862336, LOC126862337, LOC126862338, LOC126862339, LOC126862340, LOC126862341, LOC126862342, LOC126862343, LOC126862344, LOC126862345, LOC126862346, LOC126862347, LOC126862348, LONP2, MIR3181, MIR6771, MYLK3, N4BP1, NETO2, NKD1, NOD2, ORC6, PHKB, SALL1, SHCBP1, SIAH1, SNORD148, SNX20, TENT4B, VPS35, ZNF423		See cases	Pathogenic (Apr 8, 2011)	no assertion criteria provided
Select item 1480873.	GRCh38/hg38 16q11.2-12.1(chr16:46466829-52355793)x3 GRCh37: Chr16:46500741-52389705 GRCh38: Chr16:46466829-52355793	ABCC11, ABCC12, ADCY7, BRD7, C16orf78, C16orf87, CASC22, CBLN1, CNEP1R1, CYLD, CYLD-AS1, DNAJA2, GPT2, HEATR3, HNRNPA1L3, ITFG1, ITFG1-AS1, LINC00919, LINC01571, LINC02127, LINC02128, LINC02133, LINC02134, LINC02168, LINC02178, LINC02179, LINC02180, LINC02192, LINC02911, LOC100507577, LOC101927272, LOC110120582, LOC110120583, LOC110120584, LOC110120585, LOC110120586, LOC110120587, LOC110120588, LOC110120823, LOC110120826, LOC110120836, LOC110120841, LOC110120912, LOC110120939, LOC112449709, LOC112449712, LOC112449713, LOC112449714, LOC112449715, LOC113939952, LOC113939953, LOC113939954, LOC121587544, LOC121587545, LOC121847987, LOC125146444, LOC125177302, LOC125177304, LOC125177305, LOC125177306, LOC125177307, LOC125177308, LOC125177309, LOC126862336, LOC126862337, LOC126862338, LOC126862339, LOC126862340, LOC126862341, LOC126862342, LOC126862343, LOC126862344, LOC126862345, LOC126862346, LOC126862347, LOC126862348, LONP2, MIR3181, MIR6771, MYLK3, N4BP1, NETO2, NKD1, NOD2, ORC6, PHKB, SALL1, SHCBP1, SIAH1, SNORD148, SNX20, TENT4B, VPS35, ZNF423		See cases	Pathogenic (Dec 22, 2010)	no assertion criteria provided
Select item 594684.	GRCh38/hg38 16q11.2-12.1(chr16:46466829-51673196)x1 GRCh37: Chr16:46500741-51707107 GRCh38: Chr16:46466829-51673196	ABCC11, ABCC12, ADCY7, BRD7, C16orf78, C16orf87, CBLN1, CNEP1R1, CYLD, CYLD-AS1, DNAJA2, GPT2, HEATR3, HNRNPA1L3, ITFG1, ITFG1-AS1, LINC02127, LINC02128, LINC02133, LINC02134, LINC02168, LINC02178, LINC02179, LINC02192, LOC100507577, LOC101927272, LOC110120583, LOC110120584, LOC110120585, LOC110120586, LOC110120587, LOC110120588, LOC110120823, LOC110120826, LOC110120836, LOC110120841, LOC110120912, LOC110120939, LOC112449709, LOC112449712, LOC112449713, LOC112449714, LOC112449715, LOC113939952, LOC113939953, LOC113939954, LOC121587544, LOC121587545, LOC121847987, LOC125146444, LOC125177302, LOC125177304, LOC125177305, LOC125177306, LOC125177307, LOC125177308, LOC125177309, LOC126862336, LOC126862337, LOC126862338, LOC126862339, LOC126862340, LOC126862341, LOC126862342, LOC126862343, LOC126862344, LOC126862345, LOC126862346, LOC126862347, LONP2, MIR3181, MIR6771, MYLK3, N4BP1, NETO2, NKD1, NOD2, ORC6, PHKB, SALL1, SHCBP1, SIAH1, SNORD148, SNX20, TENT4B, VPS35, ZNF423		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 594675.	GRCh38/hg38 16q11.2-12.1(chr16:46466829-51939304)x1 GRCh37: Chr16:46500741-51973216 GRCh38: Chr16:46466829-51939304	ABCC11, ABCC12, ADCY7, BRD7, C16orf78, C16orf87, CBLN1, CNEP1R1, CYLD, CYLD-AS1, DNAJA2, GPT2, HEATR3, HNRNPA1L3, ITFG1, ITFG1-AS1, LINC01571, LINC02127, LINC02128, LINC02133, LINC02134, LINC02168, LINC02178, LINC02179, LINC02192, LOC100507577, LOC101927272, LOC110120582, LOC110120583, LOC110120584, LOC110120585, LOC110120586, LOC110120587, LOC110120588, LOC110120823, LOC110120826, LOC110120836, LOC110120841, LOC110120912, LOC110120939, LOC112449709, LOC112449712, LOC112449713, LOC112449714, LOC112449715, LOC113939952, LOC113939953, LOC113939954, LOC121587544, LOC121587545, LOC121847987, LOC125146444, LOC125177302, LOC125177304, LOC125177305, LOC125177306, LOC125177307, LOC125177308, LOC125177309, LOC126862336, LOC126862337, LOC126862338, LOC126862339, LOC126862340, LOC126862341, LOC126862342, LOC126862343, LOC126862344, LOC126862345, LOC126862346, LOC126862347, LONP2, MIR3181, MIR6771, MYLK3, N4BP1, NETO2, NKD1, NOD2, ORC6, PHKB, SALL1, SHCBP1, SIAH1, SNORD148, SNX20, TENT4B, VPS35, ZNF423		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 594866.	GRCh38/hg38 16q11.2-12.1(chr16:46471520-52405956)x1 GRCh37: Chr16:46505432-52439868 GRCh38: Chr16:46471520-52405956	ABCC11, ABCC12, ADCY7, BRD7, C16orf78, C16orf87, CASC22, CBLN1, CNEP1R1, CYLD, CYLD-AS1, DNAJA2, GPT2, HEATR3, HNRNPA1L3, ITFG1, ITFG1-AS1, LINC00919, LINC01571, LINC02127, LINC02128, LINC02133, LINC02134, LINC02168, LINC02178, LINC02179, LINC02180, LINC02192, LINC02911, LOC100507577, LOC101927272, LOC110120582, LOC110120583, LOC110120584, LOC110120585, LOC110120586, LOC110120587, LOC110120588, LOC110120823, LOC110120826, LOC110120836, LOC110120841, LOC110120912, LOC110120939, LOC112449709, LOC112449712, LOC112449713, LOC112449714, LOC112449715, LOC113939952, LOC113939953, LOC113939954, LOC121587544, LOC121587545, LOC121847987, LOC125146444, LOC125177302, LOC125177304, LOC125177305, LOC125177306, LOC125177307, LOC125177308, LOC125177309, LOC126862336, LOC126862337, LOC126862338, LOC126862339, LOC126862340, LOC126862341, LOC126862342, LOC126862343, LOC126862344, LOC126862345, LOC126862346, LOC126862347, LOC126862348, LONP2, MIR3181, MIR6771, MYLK3, N4BP1, NETO2, NKD1, NOD2, ORC6, PHKB, SALL1, SHCBP1, SIAH1, SNORD148, SNX20, TENT4B, VPS35, ZNF423		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 594877.	GRCh38/hg38 16q12.1-12.2(chr16:47250644-54121476)x1 GRCh37: Chr16:47284555-54155388 GRCh38: Chr16:47250644-54121476	ABCC11, ABCC12, ADCY7, AKTIP, BRD7, C16orf78, CASC16, CASC22, CBLN1, CHD9, CHD9NB, CNEP1R1, CYLD, CYLD-AS1, FTO, FTO-IT1, HEATR3, HNRNPA1L3, ITFG1, LINC00919, LINC01571, LINC02127, LINC02128, LINC02133, LINC02134, LINC02168, LINC02178, LINC02179, LINC02180, LINC02192, LINC02911, LINC03064, LOC100507577, LOC101927272, LOC102723373, LOC110120580, LOC110120581, LOC110120582, LOC110120583, LOC110120584, LOC110120585, LOC110120586, LOC110120587, LOC110120588, LOC110120823, LOC110120826, LOC110120836, LOC110120837, LOC110120838, LOC110120839, LOC110120840, LOC110120841, LOC110120912, LOC110120939, LOC110121339, LOC112449713, LOC112449714, LOC112449715, LOC112449716, LOC112449717, LOC113939952, LOC113939953, LOC113939954, LOC121587545, LOC121847987, LOC121847988, LOC125146444, LOC125177302, LOC125177304, LOC125177305, LOC125177306, LOC125177307, LOC125177308, LOC125177309, LOC125177311, LOC125177312, LOC125177313, LOC126862336, LOC126862337, LOC126862338, LOC126862339, LOC126862340, LOC126862341, LOC126862342, LOC126862343, LOC126862344, LOC126862345, LOC126862346, LOC126862347, LOC126862348, LOC126862349, LOC126862350, LOC126862351, LOC126862352, LOC126862353, LOC126862354, LONP2, MIR3181, MIR6771, N4BP1, NKD1, NOD2, PHKB, RBL2, RPGRIP1L, SALL1, SIAH1, SNX20, TENT4B, TOX3, ZNF423		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 2215228.	GRCh38/hg38 16q12.1-12.2(chr16:48543083-53879916)x1 GRCh37: Chr16:48576994-53913828 GRCh38: Chr16:48543083-53879916	LOC125177302, LOC125177304, LOC125177305, LOC125177306, LOC125177307, LOC125177308, LOC125177309, LOC125177311, LOC125177312, LOC126862340, LOC126862341, LOC126862342, LOC126862343, LOC126862344, LOC126862345, LOC126862346, LOC126862347, LOC126862348, LOC126862349, LOC126862350, LOC126862351, LOC126862352, LOC126862353, LOC126862354, MIR3181, MIR6771, N4BP1, NKD1, NOD2, RBL2, RPGRIP1L, SALL1, SNX20, TENT4B, TOX3, ZNF423, ADCY7, AKTIP, BRD7, C16orf78, CASC16, CASC22, CBLN1, CHD9, CHD9NB, CNEP1R1, CYLD, CYLD-AS1, FTO, HEATR3, HNRNPA1L3, LINC00919, LINC01571, LINC02127, LINC02128, LINC02168, LINC02178, LINC02179, LINC02180, LINC02911, LINC03064, LOC101927272, LOC102723373, LOC110120581, LOC110120582, LOC110120583, LOC110120584, LOC110120585, LOC110120586, LOC110120587, LOC110120588, LOC110120823, LOC110120826, LOC110120836, LOC110120840, LOC110120841, LOC110120912, LOC110120939, LOC110121339, LOC112449715, LOC113939952, LOC113939953, LOC113939954, LOC121587545, LOC121847987, LOC121847988		Ductal breast carcinoma	Uncertain significance (Jul 20, 2015)	no assertion criteria provided
Select item 1486549.	GRCh38/hg38 16q12.1-12.2(chr16:49570553-53467065)x1 GRCh37: Chr16:49604464-53500977 GRCh38: Chr16:49570553-53467065	ADCY7, BRD7, CASC16, CASC22, CHD9, CHD9NB, CNEP1R1, CYLD, CYLD-AS1, HEATR3, HNRNPA1L3, LINC00919, LINC01571, LINC02127, LINC02128, LINC02168, LINC02178, LINC02180, LINC02911, LINC03064, LOC101927272, LOC102723373, LOC110120582, LOC110120583, LOC110120584, LOC110120585, LOC110120586, LOC110120587, LOC110120588, LOC110120836, LOC110120840, LOC110120841, LOC110120912, LOC110120939, LOC110121339, LOC112449715, LOC113939954, LOC121587545, LOC121847987, LOC121847988, LOC125177305, LOC125177306, LOC125177307, LOC125177308, LOC125177309, LOC125177311, LOC125177312, LOC126862341, LOC126862342, LOC126862343, LOC126862344, LOC126862345, LOC126862346, LOC126862347, LOC126862348, LOC126862349, LOC126862350, LOC126862351, LOC126862352, LOC126862353, LOC126862354, MIR3181, MIR6771, NKD1, NOD2, RBL2, SALL1, SNX20, TENT4B, TOX3, ZNF423		See cases	Pathogenic (Aug 29, 2011)	no assertion criteria provided
Select item 15568510.	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3 GRCh37: Chr16:49719432-68435615 GRCh38: Chr16:49685521-68401712	ACD, ADCY7, ADGRG1, ADGRG3, ADGRG5, AGRP, AKTIP, AMFR, ARL2BP, ATP6V0D1, ATP6V0D1-DT, B3GNT9, BBS2, BEAN1, BEAN1-AS1, BRD7, C16orf86, CA7, CAPNS2, CARMIL2, CASC16, CASC22, CBFB, CCDC102A, CCDC113, CCL17, CCL22, CDH11, CDH16, CDH5, CDH8, CENPT, CES1, CES2, CES3, CES4A, CES5A, CETP, CFAP20, CHD9, CHD9NB, CIAO2B, CIAPIN1, CKLF, CKLF-CMTM1, CMTM1, CMTM2, CMTM3, CMTM4, CNEP1R1, CNGB1, CNOT1, COQ9, CPNE2, CRNDE, CSNK2A2, CTCF, CTCF-DT, CTRL, CX3CL1, CYLD, CYLD-AS1, DDX28, DOK4, DPEP2, DPEP2NB, DPEP3, DRC7, DUS2, DYNC1LI2, DYNC1LI2-DT, E2F4, EDC4, ELMO3, ENKD1, ESRP2, EXOC3L1, FBXL8, FHOD1, FRA16B, FTO, FTO-IT1, GFOD2, GINS3, GNAO1, GNAO1-AS1, GNAO1-DT, GOT2, HEATR3, HERPUD1, HNRNPA1L3, HSD11B2, HSF4, IRX3, IRX5, IRX6, KATNB1, KCTD19, KIFC3, LCAT, LINC00919, LINC00920, LINC00922, LINC01571, LINC02126, LINC02127, LINC02128, LINC02137, LINC02140, LINC02141, LINC02168, LINC02169, LINC02178, LINC02180, LINC02911, LINC03064, LOC100505942, LOC101927272, LOC101927480, LOC102723373, LOC110120574, LOC110120575, LOC110120576, LOC110120577, LOC110120578, LOC110120579, LOC110120580, LOC110120581, LOC110120582, LOC110120583, LOC110120584, LOC110120585, LOC110120586, LOC110120587, LOC110120588, LOC110120835, LOC110120836, LOC110120837, LOC110120838, LOC110120839, LOC110120840, LOC110120841, LOC110120912, LOC110120939, LOC110121339, LOC110121356, LOC110121443, LOC112449715, LOC112449716, LOC112449717, LOC112469003, LOC112469004, LOC112469005, LOC112469006, LOC112469007, LOC112469008, LOC112469009, LOC112469010, LOC112469011, LOC112469012, LOC112469013, LOC112469014, LOC112469015, LOC112469016, LOC113939954, LOC121587545, LOC121587546, LOC121587547, LOC121587548, LOC121587549, LOC121587550, LOC121587551, LOC121847987, LOC121847988, LOC121847989, LOC125177305, LOC125177306, LOC125177307, LOC125177308, LOC125177309, LOC125177311, LOC125177312, LOC125177313, LOC125177314, LOC125177315, LOC125177316, LOC125177317, LOC125177318, LOC125177319, LOC125177320, LOC125177322, LOC125177323, LOC125177324, LOC125177325, LOC125177326, LOC125177327, LOC125177328, LOC125177330, LOC125177332, LOC125177333, LOC125177334, LOC125177336, LOC125177337, LOC125177338, LOC125177339, LOC125177340, LOC125177341, LOC125177342, LOC126862342, LOC126862343, LOC126862344, LOC126862345, LOC126862346, LOC126862347, LOC126862348, LOC126862349, LOC126862350, LOC126862351, LOC126862352, LOC126862353, LOC126862354, LOC126862355, LOC126862356, LOC126862357, LOC126862358, LOC126862359, LOC126862360, LOC126862361, LOC126862362, LOC126862363, LOC126862364, LOC126862365, LOC126862366, LOC126862367, LOC126862368, LOC126862369, LOC126862370, LOC126862371, LOC126862372, LOC126862373, LOC126862374, LOC126862375, LOC126862376, LOC126862377, LOC126862378, LOC126862379, LOC126862380, LOC126862381, LOC388282, LPCAT2, LRRC29, LRRC36, MATCAP1, MIR138-2, MIR3181, MIR328, MIR3935, MIR6771, MIR6772, MIR6773, MIR6863, MMP15, MMP2, MMP2-AS1, MT1A, MT1B, MT1E, MT1F, MT1G, MT1H, MT1M, MT1X, MT2A, MT3, MT4, NAE1, NDRG4, NFATC3, NKD1, NLRC5, NOD2, NOL3, NRN1L, NUDT21, NUP93, NUP93-DT, NUTF2, OGFOD1, PARD6A, PDP2, PHAF1, PLA2G15, PLEKHG4, PLLP, POLR2C, PRMT7, PRSS54, PSKH1, PSMB10, PSME3IP1, RANBP10, RBL2, RIPOR1, RPGRIP1L, RRAD, RSPRY1, SALL1, SETD6, SLC12A3, SLC12A4, SLC38A7, SLC6A2, SLC7A6, SLC7A6OS, SLC9A5, SMPD3, SNORA46, SNORA50A, SNX20, TENT4B, TEPP, TERB1, THAP11, TK2, TMEM208, TOX3, TPPP3, TRADD, TRL-CAG2-1, TRL-CAG2-2, TSNAXIP1, USB1, ZDHHC1, ZNF319, ZNF423		See cases	Pathogenic (Mar 18, 2014)	no assertion criteria provided
Select item 5948911.	GRCh38/hg38 16q12.1(chr16:49740807-51876620)x1 GRCh37: Chr16:49774718-51910531 GRCh38: Chr16:49740807-51876620	ADCY7, BRD7, CNEP1R1, CYLD, CYLD-AS1, HEATR3, HNRNPA1L3, LINC01571, LINC02127, LINC02128, LINC02168, LINC02178, LOC101927272, LOC110120583, LOC110120584, LOC110120585, LOC110120586, LOC110120587, LOC110120588, LOC110120836, LOC110120841, LOC110120939, LOC112449715, LOC113939954, LOC121587545, LOC121847987, LOC125177305, LOC125177306, LOC125177307, LOC125177308, LOC125177309, LOC126862342, LOC126862343, LOC126862344, LOC126862345, LOC126862346, LOC126862347, MIR3181, MIR6771, NKD1, NOD2, SALL1, SNX20, TENT4B, ZNF423		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 5949012.	GRCh38/hg38 16q12.1-12.2(chr16:50784329-55566715)x1 GRCh37: Chr16:50818240-55600627 GRCh38: Chr16:50784329-55566715	AKTIP, CAPNS2, CASC16, CASC22, CHD9, CHD9NB, CRNDE, CYLD, FTO, FTO-IT1, HNRNPA1L3, IRX3, IRX5, IRX6, LINC00919, LINC01571, LINC02127, LINC02128, LINC02140, LINC02168, LINC02169, LINC02180, LINC02911, LINC03064, LOC101927480, LOC102723373, LOC110120574, LOC110120575, LOC110120576, LOC110120577, LOC110120578, LOC110120579, LOC110120580, LOC110120581, LOC110120582, LOC110120583, LOC110120584, LOC110120585, LOC110120586, LOC110120587, LOC110120588, LOC110120835, LOC110120836, LOC110120837, LOC110120838, LOC110120839, LOC110120840, LOC110120841, LOC110120939, LOC110121339, LOC112449716, LOC112449717, LOC112469003, LOC121847988, LOC125177311, LOC125177312, LOC125177313, LOC125177314, LOC125177315, LOC126862345, LOC126862346, LOC126862347, LOC126862348, LOC126862349, LOC126862350, LOC126862351, LOC126862352, LOC126862353, LOC126862354, LOC126862355, LOC126862356, LOC126862357, LPCAT2, MMP2, MMP2-AS1, RBL2, RPGRIP1L, SALL1, TOX3		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 31957513.	NM_002968.3(SALL1):c.*1112dup GRCh37: Chr16:51169910-51169911 GRCh38: Chr16:51135999-51136000	SALL1		Townes-Brocks syndrome 1	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 31957614.	NM_002968.3(SALL1):c.*1033dup GRCh37: Chr16:51169989-51169990 GRCh38: Chr16:51136078-51136079	SALL1		Townes-Brocks syndrome 1	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 31957915.	NM_002968.3(SALL1):c.*920CTT[2] GRCh37: Chr16:51170095-51170097 GRCh38: Chr16:51136184-51136186	SALL1		not provided, Townes-Brocks syndrome 1	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 31958316.	NM_002968.3(SALL1):c.705_706del GRCh37: Chr16:51170317-51170318 GRCh38: Chr16:51136406-51136407	SALL1		Townes-Brocks syndrome 1	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 31958617.	NM_002968.3(SALL1):c.*588del GRCh37: Chr16:51170435 GRCh38: Chr16:51136524	SALL1		Townes-Brocks syndrome 1	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 31958718.	NM_002968.3(SALL1):c.*563del GRCh37: Chr16:51170460 GRCh38: Chr16:51136549	SALL1		Townes-Brocks syndrome 1	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 124922719.	NM_002968.3(SALL1):c.*83GCCCC[3] GRCh37: Chr16:51170930-51170931 GRCh38: Chr16:51137019-51137020	SALL1		not provided	Benign (Mar 3, 2015)	criteria provided, single submitter
Select item 31959320.	NM_002968.3(SALL1):c.*83GCCCC[1] GRCh37: Chr16:51170931-51170935 GRCh38: Chr16:51137020-51137024	SALL1		Townes-Brocks syndrome 1, not provided	Likely benign (Mar 31, 2019)	criteria provided, multiple submitters, no conflicts
Select item 80804321.	NM_002968.3(SALL1):c.3964G>A (p.Val1322Ile) GRCh37: Chr16:51171034 GRCh38: Chr16:51137123	SALL1	V1225I, V1322I	not provided, Townes syndrome, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Nov 7, 2022)	criteria provided, conflicting interpretations
Select item 128030922.	NM_002968.3(SALL1):c.3963C>G (p.Ile1321Met) GRCh37: Chr16:51171035 GRCh38: Chr16:51137124	SALL1	I1224M, I1321M	not provided	Benign (Oct 14, 2020)	criteria provided, single submitter
Select item 71199023.	NM_002968.3(SALL1):c.3957G>A (p.Lys1319=) GRCh37: Chr16:51171041 GRCh38: Chr16:51137130	SALL1		not provided, Townes syndrome	Likely benign (Jul 14, 2021)	criteria provided, single submitter
Select item 225409524.	NM_002968.3(SALL1):c.3947A>G (p.Glu1316Gly) GRCh37: Chr16:51171051 GRCh38: Chr16:51137140	SALL1	E1316G, E1219G	Inborn genetic diseases	Uncertain significance (Oct 6, 2021)	criteria provided, single submitter
Select item 31959725.	NM_002968.3(SALL1):c.3942C>T (p.Phe1314=) GRCh37: Chr16:51171056 GRCh38: Chr16:51137145	SALL1		not provided, not specified, Townes-Brocks syndrome 1, Townes syndrome	Benign/Likely benign (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 42690226.	NM_002968.3(SALL1):c.3938G>A (p.Arg1313His) GRCh37: Chr16:51171060 GRCh38: Chr16:51137149	SALL1	R1313H, R1216H	Inborn genetic diseases, Townes syndrome, not provided	Conflicting interpretations of pathogenicity (Jul 12, 2022)	criteria provided, conflicting interpretations
Select item 205967827.	NM_002968.3(SALL1):c.3937C>T (p.Arg1313Cys) GRCh37: Chr16:51171061 GRCh38: Chr16:51137150	SALL1	R1313C, R1216C	Townes syndrome	Uncertain significance (Jun 4, 2022)	criteria provided, single submitter
Select item 28759128.	NM_002968.3(SALL1):c.3915C>T (p.Asn1305=) GRCh37: Chr16:51171083 GRCh38: Chr16:51137172	SALL1		Townes syndrome, not specified, not provided	Benign (Jul 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 141573029.	NM_002968.3(SALL1):c.3890T>G (p.Leu1297Arg) GRCh37: Chr16:51171108 GRCh38: Chr16:51137197	SALL1	L1297R, L1200R	Townes syndrome, Inborn genetic diseases	Uncertain significance (Nov 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21851030.	NM_002968.3(SALL1):c.3872A>G (p.Asn1291Ser) GRCh37: Chr16:51171126 GRCh38: Chr16:51137215	SALL1	N1291S, N1194S	Townes syndrome, not specified, not provided, Townes-Brocks syndrome 1	Benign/Likely benign (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97387631.	NM_002968.3(SALL1):c.3847G>A (p.Glu1283Lys) GRCh37: Chr16:51171151 GRCh38: Chr16:51137240	SALL1	E1186K, E1283K	Townes-Brocks syndrome 1	Uncertain significance (Mar 31, 2020)	criteria provided, single submitter
Select item 135891532.	NM_002968.3(SALL1):c.3843C>G (p.Asn1281Lys) GRCh37: Chr16:51171155 GRCh38: Chr16:51137244	SALL1	N1184K, N1281K	Townes syndrome	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 82991533.	NM_002968.3(SALL1):c.3836C>T (p.Thr1279Met) GRCh37: Chr16:51171162 GRCh38: Chr16:51137251	SALL1	T1182M, T1279M	Inborn genetic diseases, Townes syndrome, not provided	Uncertain significance (Mar 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 25887134.	NM_002968.3(SALL1):c.3823G>A (p.Val1275Ile) GRCh37: Chr16:51171175 GRCh38: Chr16:51137264	SALL1	V1275I, V1178I	not provided, not specified, Townes syndrome, Townes-Brocks syndrome 1	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 130164435.	NM_002968.3(SALL1):c.3808G>A (p.Gly1270Arg) GRCh37: Chr16:51171190 GRCh38: Chr16:51137279	SALL1	G1173R, G1270R	not specified	Uncertain significance (Feb 11, 2020)	criteria provided, single submitter
Select item 192029236.	NM_002968.3(SALL1):c.3801C>T (p.Leu1267_Gly1268=) GRCh37: Chr16:51171197 GRCh38: Chr16:51137286	SALL1		Townes syndrome	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 28812237.	NM_002968.3(SALL1):c.3794G>A (p.Gly1265Glu) GRCh37: Chr16:51171204 GRCh38: Chr16:51137293	SALL1	G1265E, G1168E	Townes syndrome, not specified, not provided, Townes-Brocks syndrome 1	Benign/Likely benign (Sep 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93200438.	NM_002968.3(SALL1):c.3787A>G (p.Ile1263Val) GRCh37: Chr16:51171211 GRCh38: Chr16:51137300	SALL1	I1166V, I1263V	Townes-Brocks syndrome 1	Uncertain significance (Aug 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 130657039.	NM_002968.3(SALL1):c.3782C>G (p.Pro1261Arg) GRCh37: Chr16:51171216 GRCh38: Chr16:51137305	SALL1	P1164R, P1261R	Townes-Brocks syndrome 1, not provided	Uncertain significance (Dec 6, 2021)	criteria provided, multiple submitters, no conflicts
Select item 98242540.	NM_002968.3(SALL1):c.3782C>T (p.Pro1261Leu) GRCh37: Chr16:51171216 GRCh38: Chr16:51137305	SALL1	P1164L, P1261L	Townes-Brocks syndrome 1	Uncertain significance (Aug 26, 2020)	criteria provided, single submitter
Select item 222620241.	NM_002968.3(SALL1):c.3781C>T (p.Pro1261Ser) GRCh37: Chr16:51171217 GRCh38: Chr16:51137306	SALL1	P1164S, P1261S	Inborn genetic diseases	Uncertain significance (Oct 21, 2021)	criteria provided, single submitter
Select item 37940742.	NM_002968.3(SALL1):c.3771C>T (p.Asn1257=) GRCh37: Chr16:51171227 GRCh38: Chr16:51137316	SALL1		not specified, Townes syndrome, Townes-Brocks syndrome 1	Likely benign (Feb 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 70440043.	NM_002968.3(SALL1):c.3759C>T (p.Ser1253=) GRCh37: Chr16:51171239 GRCh38: Chr16:51137328	SALL1		Townes syndrome, not provided	Likely benign (Oct 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 50197044.	NM_002968.3(SALL1):c.3750C>T (p.Asn1250=) GRCh37: Chr16:51171248 GRCh38: Chr16:51137337	SALL1		not provided, Townes syndrome	Conflicting interpretations of pathogenicity (Aug 6, 2022)	criteria provided, conflicting interpretations
Select item 236188945.	NM_002968.3(SALL1):c.3737C>T (p.Ala1246Val) GRCh37: Chr16:51171261 GRCh38: Chr16:51137350	SALL1	A1149V, A1246V	Inborn genetic diseases	Uncertain significance (Jul 6, 2021)	criteria provided, single submitter
Select item 126560346.	NM_002968.3(SALL1):c.3729C>T (p.Asn1243=) GRCh37: Chr16:51171269 GRCh38: Chr16:51137358	SALL1		Townes syndrome, not provided, Townes-Brocks syndrome 1	Benign/Likely benign (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 143147247.	NM_002968.3(SALL1):c.3728A>G (p.Asn1243Ser) GRCh37: Chr16:51171270 GRCh38: Chr16:51137359	SALL1	N1146S, N1243S	Townes-Brocks syndrome 1, Townes syndrome	Uncertain significance (May 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 115010548.	NM_002968.3(SALL1):c.3720G>A (p.Ala1240=) GRCh37: Chr16:51171278 GRCh38: Chr16:51137367	SALL1		Townes syndrome	Likely benign (Aug 28, 2019)	criteria provided, single submitter
Select item 239877349.	NM_002968.3(SALL1):c.3696C>G (p.Ser1232Arg) GRCh37: Chr16:51171302 GRCh38: Chr16:51137391	SALL1	S1232R, S1135R	Inborn genetic diseases	Uncertain significance (Jul 26, 2021)	criteria provided, single submitter
Select item 170343650.	NM_002968.3(SALL1):c.3685G>A (p.Asp1229Asn) GRCh37: Chr16:51171313 GRCh38: Chr16:51137402	SALL1	D1132N, D1229N	not provided, Inborn genetic diseases	Uncertain significance (Feb 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 206137851.	NM_002968.3(SALL1):c.3666G>A (p.Ala1222_Ala1223=) GRCh37: Chr16:51171332 GRCh38: Chr16:51137421	SALL1		Townes syndrome	Likely benign (Sep 10, 2022)	criteria provided, single submitter
Select item 126143852.	NM_002968.3(SALL1):c.3665C>T (p.Ala1222Val) GRCh37: Chr16:51171333 GRCh38: Chr16:51137422	SALL1	A1125V, A1222V	Townes syndrome, not provided	Benign/Likely benign (Sep 8, 2021)	criteria provided, multiple submitters, no conflicts
Select item 130930553.	NM_002968.3(SALL1):c.3631G>T (p.Val1211Phe) GRCh37: Chr16:51171367 GRCh38: Chr16:51137456	SALL1	V1114F, V1211F	Townes-Brocks syndrome 1, not provided	Uncertain significance (Nov 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 195545454.	NM_002968.3(SALL1):c.3630C>T (p.Pro1210_Val1211=) GRCh37: Chr16:51171368 GRCh38: Chr16:51137457	SALL1		Townes syndrome	Likely benign (Apr 7, 2022)	criteria provided, single submitter
Select item 130705555.	NM_002968.3(SALL1):c.3623G>A (p.Gly1208Asp) GRCh37: Chr16:51171375 GRCh38: Chr16:51137464	SALL1	G1111D, G1208D	not provided	Uncertain significance (Jul 22, 2019)	criteria provided, single submitter
Select item 124448356.	NM_002968.3(SALL1):c.3603C>T (p.Gly1201=) GRCh37: Chr16:51171395 GRCh38: Chr16:51137484	SALL1		not provided	Benign (Jun 4, 2021)	criteria provided, single submitter
Select item 45066857.	NM_002968.3(SALL1):c.3601G>A (p.Gly1201Ser) GRCh37: Chr16:51171397 GRCh38: Chr16:51137486	SALL1	G1201S, G1104S	not provided	Uncertain significance (Aug 8, 2018)	criteria provided, single submitter
Select item 57476658.	NM_002968.3(SALL1):c.3584G>A (p.Arg1195Gln) GRCh37: Chr16:51171414 GRCh38: Chr16:51137503	SALL1	R1195Q, R1098Q	Townes syndrome	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 203737559.	NM_002968.3(SALL1):c.3537A>G (p.Val1179_His1180=) GRCh37: Chr16:51171461 GRCh38: Chr16:51137550	SALL1		Townes syndrome	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 25886960.	NM_002968.3(SALL1):c.3535-44CT[6] GRCh37: Chr16:51171494-51171495 GRCh38: Chr16:51137583-51137584	SALL1		not provided, not specified	Benign/Likely benign (Aug 11, 2019)	criteria provided, multiple submitters, no conflicts
Select item 118270061.	NM_002968.3(SALL1):c.3535-152C>G GRCh37: Chr16:51171615 GRCh38: Chr16:51137704	SALL1		not provided	Likely benign (Nov 16, 2018)	criteria provided, single submitter
Select item 66757962.	NM_002968.3(SALL1):c.3535-207G>A GRCh37: Chr16:51171670 GRCh38: Chr16:51137759	SALL1		not provided	Benign (Jun 19, 2018)	criteria provided, single submitter
Select item 127273163.	NM_002968.3(SALL1):c.3534+274G>C GRCh37: Chr16:51172325 GRCh38: Chr16:51138414	SALL1		not provided	Benign (Jun 28, 2018)	criteria provided, single submitter
Select item 122478964.	NM_002968.3(SALL1):c.3534+40C>G GRCh37: Chr16:51172559 GRCh38: Chr16:51138648	SALL1		not provided	Benign (Dec 9, 2018)	criteria provided, single submitter
Select item 39195765.	NM_002968.3(SALL1):c.3534+5C>T GRCh37: Chr16:51172594 GRCh38: Chr16:51138683	SALL1		not specified	Likely benign (Jan 4, 2017)	criteria provided, single submitter
Select item 25886866.	NM_002968.3(SALL1):c.3456C>T (p.His1152=) GRCh37: Chr16:51172677 GRCh38: Chr16:51138766	SALL1		Townes syndrome, not provided, Townes-Brocks syndrome 1, not specified	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 205659867.	NM_002968.3(SALL1):c.3437C>T (p.Ser1146Leu) GRCh37: Chr16:51172696 GRCh38: Chr16:51138785	SALL1	S1049L, S1146L	Townes syndrome	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 41846668.	NM_002968.3(SALL1):c.3414_3415del (p.Cys1139fs) GRCh37: Chr16:51172718-51172719 GRCh38: Chr16:51138807-51138808	SALL1	C1042fs, C1139fs	not provided, Townes-Brocks syndrome 1, Townes syndrome	Pathogenic (Jul 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 140787369.	NM_002968.3(SALL1):c.3409A>G (p.Asn1137Asp) GRCh37: Chr16:51172724 GRCh38: Chr16:51138813	SALL1	N1040D, N1137D	Townes syndrome	Uncertain significance (Oct 14, 2021)	criteria provided, single submitter
Select item 133361770.	NM_002968.3(SALL1):c.3381del (p.Arg1128fs) GRCh37: Chr16:51172752 GRCh38: Chr16:51138841	SALL1	R1031fs, R1128fs	Townes-Brocks syndrome 1	Likely pathogenic (Jan 3, 2022)	criteria provided, single submitter
Select item 122774671.	NM_002968.3(SALL1):c.3380C>T (p.Pro1127Leu) GRCh37: Chr16:51172753 GRCh38: Chr16:51138842	SALL1	P1030L, P1127L	not provided	Benign (May 3, 2019)	criteria provided, single submitter
Select item 205189072.	NM_002968.3(SALL1):c.3347C>T (p.Ser1116Phe) GRCh37: Chr16:51172786 GRCh38: Chr16:51138875	SALL1	S1019F, S1116F	Townes syndrome	Uncertain significance (Apr 4, 2022)	criteria provided, single submitter
Select item 119438673.	NM_002968.3(SALL1):c.3330T>C (p.Ser1110=) GRCh37: Chr16:51172803 GRCh38: Chr16:51138892	SALL1		not provided, Townes-Brocks syndrome 1	Likely benign (Dec 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 136264374.	NM_002968.3(SALL1):c.3327G>A (p.Pro1109=) GRCh37: Chr16:51172806 GRCh38: Chr16:51138895	SALL1		Townes syndrome	Likely benign (Dec 21, 2020)	criteria provided, single submitter
Select item 42452175.	NM_002968.3(SALL1):c.3326C>T (p.Pro1109Leu) GRCh37: Chr16:51172807 GRCh38: Chr16:51138896	SALL1	P1109L, P1012L	not provided	Likely pathogenic (Mar 31, 2017)	criteria provided, single submitter
Select item 169924576.	NM_002968.3(SALL1):c.3322G>T (p.Val1108Phe) GRCh37: Chr16:51172811 GRCh38: Chr16:51138900	SALL1	V1011F, V1108F	Townes-Brocks syndrome 1	Uncertain significance (May 21, 2020)	criteria provided, single submitter
Select item 118345377.	NM_002968.3(SALL1):c.3322G>C (p.Val1108Leu) GRCh37: Chr16:51172811 GRCh38: Chr16:51138900	SALL1	V1011L, V1108L	not provided, Townes syndrome	Benign/Likely benign (Jan 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 68959978.	NM_002968.3(SALL1):c.3322G>A (p.Val1108Ile) GRCh37: Chr16:51172811 GRCh38: Chr16:51138900	SALL1	V1011I, V1108I	not specified, Townes-Brocks syndrome 1	Likely benign (Dec 29, 2021)	criteria provided, multiple submitters, no conflicts
Select item 128149879.	NM_002968.3(SALL1):c.3310C>G (p.Pro1104Ala) GRCh37: Chr16:51172823 GRCh38: Chr16:51138912	SALL1	P1007A, P1104A	Townes syndrome, not provided, Townes-Brocks syndrome 1	Benign/Likely benign (Oct 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 28796880.	NM_002968.3(SALL1):c.3305A>G (p.Asp1102Gly) GRCh37: Chr16:51172828 GRCh38: Chr16:51138917	SALL1	D1102G, D1005G	not provided	Uncertain significance (May 17, 2016)	criteria provided, single submitter
Select item 59346681.	NM_002968.3(SALL1):c.3270C>T (p.Asn1090=) GRCh37: Chr16:51172863 GRCh38: Chr16:51138952	SALL1		Townes syndrome, not provided	Conflicting interpretations of pathogenicity (Jul 12, 2022)	criteria provided, conflicting interpretations
Select item 121766582.	NM_002968.3(SALL1):c.3242T>C (p.Leu1081Ser) GRCh37: Chr16:51172891 GRCh38: Chr16:51138980	SALL1	L1081S, L984S	not provided	Likely benign (Dec 23, 2019)	criteria provided, single submitter
Select item 153664983.	NM_002968.3(SALL1):c.3231C>T (p.Pro1077=) GRCh37: Chr16:51172902 GRCh38: Chr16:51138991	SALL1		Townes syndrome, Townes-Brocks syndrome 1	Likely benign (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 59346884.	NM_002968.3(SALL1):c.3222G>C (p.Ala1074=) GRCh37: Chr16:51172911 GRCh38: Chr16:51139000	SALL1		not provided	Uncertain significance (Aug 18, 2017)	criteria provided, single submitter
Select item 31960485.	NM_002968.3(SALL1):c.3222G>A (p.Ala1074=) GRCh37: Chr16:51172911 GRCh38: Chr16:51139000	SALL1		Townes syndrome, not provided, Townes-Brocks syndrome 1	Benign/Likely benign (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 45925986.	NM_002968.3(SALL1):c.3199C>T (p.Leu1067Phe) GRCh37: Chr16:51172934 GRCh38: Chr16:51139023	SALL1	L1067F, L970F	Townes-Brocks syndrome 1, Townes syndrome	Conflicting interpretations of pathogenicity (Jul 6, 2022)	criteria provided, conflicting interpretations
Select item 215646287.	NM_002968.3(SALL1):c.3180C>T (p.Leu1060_Phe1061=) GRCh37: Chr16:51172953 GRCh38: Chr16:51139042	SALL1		Townes syndrome	Likely benign (Mar 2, 2022)	criteria provided, single submitter
Select item 49850688.	NM_002968.3(SALL1):c.3180C>A (p.Leu1060=) GRCh37: Chr16:51172953 GRCh38: Chr16:51139042	SALL1		Townes syndrome, not specified, not provided, Townes-Brocks syndrome 1	Benign/Likely benign (Sep 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 130609889.	NM_002968.3(SALL1):c.3173C>G (p.Ser1058Cys) GRCh37: Chr16:51172960 GRCh38: Chr16:51139049	SALL1	S1058C, S961C	not provided	Uncertain significance (Jul 29, 2020)	criteria provided, single submitter
Select item 21915190.	NM_002968.3(SALL1):c.3160C>T (p.Arg1054Ter) GRCh37: Chr16:51172973 GRCh38: Chr16:51139062	SALL1	R1054, R957	Townes syndrome, not provided	Pathogenic/Likely pathogenic (Nov 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 38829791.	NM_002968.3(SALL1):c.3157A>C (p.Met1053Leu) GRCh37: Chr16:51172976 GRCh38: Chr16:51139065	SALL1	M1053L, M956L	not provided	Uncertain significance (Aug 5, 2016)	criteria provided, single submitter
Select item 37300192.	NM_002968.3(SALL1):c.3154C>T (p.Gln1052Ter) GRCh37: Chr16:51172979 GRCh38: Chr16:51139068	SALL1	Q1052, Q955	not provided	Likely pathogenic (Aug 5, 2016)	criteria provided, single submitter
Select item 19519093.	NM_002968.3(SALL1):c.3120A>G (p.Thr1040=) GRCh37: Chr16:51173013 GRCh38: Chr16:51139102	SALL1		not specified, not provided, Townes syndrome, Townes-Brocks syndrome 1	Benign/Likely benign (Jul 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 28088694.	NM_002968.3(SALL1):c.3099_3105dup (p.Arg1036fs) GRCh37: Chr16:51173027-51173028 GRCh38: Chr16:51139116-51139117	SALL1	R1036fs, R939fs	not provided	Pathogenic (Sep 22, 2016)	criteria provided, single submitter
Select item 206318695.	NM_002968.3(SALL1):c.3095C>T (p.Thr1032Ile) GRCh37: Chr16:51173038 GRCh38: Chr16:51139127	SALL1	T1032I, T935I	Townes syndrome	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 100653596.	NM_002968.3(SALL1):c.3088A>G (p.Ile1030Val) GRCh37: Chr16:51173045 GRCh38: Chr16:51139134	SALL1	I1030V, I933V	Townes syndrome, Townes-Brocks syndrome 1	Uncertain significance (Jan 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 70272897.	NM_002968.3(SALL1):c.3084A>G (p.Pro1028=) GRCh37: Chr16:51173049 GRCh38: Chr16:51139138	SALL1		not provided, Townes-Brocks syndrome 1	Likely benign (Aug 16, 2021)	criteria provided, multiple submitters, no conflicts
Select item 121647698.	NM_002968.3(SALL1):c.3068A>C (p.His1023Pro) GRCh37: Chr16:51173065 GRCh38: Chr16:51139154	SALL1	H1023P, H926P	not provided	Uncertain significance (Apr 17, 2020)	criteria provided, single submitter
Select item 49828599.	NM_002968.3(SALL1):c.3021C>G (p.Gly1007=) GRCh37: Chr16:51173112 GRCh38: Chr16:51139201	SALL1		not provided	Uncertain significance (Dec 5, 2016)	criteria provided, single submitter
Select item 663219100.	NM_002968.3(SALL1):c.3005_3008del (p.Ala1002fs) GRCh37: Chr16:51173125-51173128 GRCh38: Chr16:51139214-51139217	SALL1	A1002fs, A905fs	Townes syndrome	Pathogenic (Oct 23, 2018)	criteria provided, single submitter

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