SMARCA4[gene] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 591101.	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3 GRCh37: Chr19:8941823-13442041 GRCh38: Chr19:8831147-13331227	ACP5, ANGPTL6, ANGPTL8, AP1M2, ATG4D, BEST2, C19orf38, CACNA1A, CALR, CARM1, CCDC159, CDC37, CDKN2D, CNN1, COL5A3, DAND5, DHPS, DNASE2, DNM2, DNMT1, DOCK6, ECSIT, EIF3G, ELAVL3, ELOF1, EPOR, FARSA, FARSA-AS1, FBXL12, FBXW9, FDX2, FDX2-ZGLP1, GADD45GIP1, GCDH, GET3, GNG14, HOOK2, ICAM1, ICAM3, ICAM4, ICAM5, IER2, ILF3, ILF3-DT, JUNB, KANK2, KEAP1, KLF1, KRI1, LDLR, LDLR-AS1, LIMASI, LINC02926, LOC100505555, LOC105372273, LOC107080555, LOC108663985, LOC110121441, LOC110121458, LOC112543445, LOC112543446, LOC112543448, LOC112543452, LOC112543454, LOC112543455, LOC112543458, LOC113939967, LOC116276501, LOC116276502, LOC116276503, LOC117038783, LOC117038784, LOC117038785, LOC117038786, LOC117038787, LOC117038788, LOC117038789, LOC117038790, LOC117038791, LOC117038792, LOC117038793, LOC117038794, LOC117038795, LOC117125585, LOC117125586, LOC117125587, LOC117125588, LOC117125589, LOC117125590, LOC117125591, LOC117125592, LOC117125593, LOC117125594, LOC117125595, LOC117125596, LOC117125597, LOC117125598, LOC121852977, LOC121852978, LOC121852979, LOC121852980, LOC125371473, LOC125371474, LOC125371475, LOC125371476, LOC125371477, LOC125371478, LOC125371479, LOC125371480, LOC125371481, LOC126862848, LOC126862849, LOC126862850, LOC126862851, LOC126862852, LOC126862853, LOC126862854, LOC126862855, LOC126862856, LOC126862857, LOC126862858, LOC126862859, LOC126862860, LOC126862861, LOC126862862, LOC126862863, LOC126862864, LOC126862865, LOC648044, LYL1, MAN2B1, MAST1, MBD3L1, MIR1181, MIR1238, MIR199A1, MIR4322, MIR4748, MIR5589, MIR5684, MIR5695, MIR638, MIR6515, MIR6793, MIR6794, MIR6886, MIR7974, MRPL4, MUC16, NACC1, NFIX, ODAD3, OLFM2, OR1M1, OR7D2, OR7D4, OR7E24, OR7G1, OR7G2, OR7G3, P2RY11, PDE4A, PIN1, PIN1-DT, PLPPR2, PPAN, PPAN-P2RY11, PRDX2, PRKCSH, QTRT1, RAB3D, RAD23A, RAVER1, RDH8, RGL3, RNASEH2A, RTBDN, S1PR2, S1PR5, SHFL, SLC44A2, SMARCA4, SNORD105, SNORD105B, SNORD135, SNORD41, SPC24, STX10, SWSAP1, SYCE2, THSD8, TIMM29, TMED1, TMEM205, TNPO2, TRIR, TRMT1, TSPAN16, TYK2, UBL5, WDR83, WDR83OS, YIPF2, ZGLP1, ZNF121, ZNF136, ZNF177, ZNF20, ZNF266, ZNF317, ZNF426, ZNF426-DT, ZNF433, ZNF433-AS1, ZNF439, ZNF44, ZNF440, ZNF441, ZNF442, ZNF443, ZNF490, ZNF491, ZNF558, ZNF559, ZNF559-ZNF177, ZNF560, ZNF561, ZNF561-AS1, ZNF562, ZNF563, ZNF564, ZNF625, ZNF625-ZNF20, ZNF627, ZNF653, ZNF69, ZNF699, ZNF700, ZNF709, ZNF763, ZNF791, ZNF799, ZNF823, ZNF844, ZNF846, ZNF878		See cases	Likely pathogenic (May 6, 2011)	no assertion criteria provided
Select item 1460772.	GRCh38/hg38 19p13.2(chr19:9735443-11228001)x1 GRCh37: Chr19:9846119-11338677 GRCh38: Chr19:9735443-11228001	ANGPTL6, AP1M2, ATG4D, C19orf38, CARM1, CDC37, CDKN2D, COL5A3, DNM2, DNMT1, DOCK6, EIF3G, FBXL12, FDX2, FDX2-ZGLP1, ICAM1, ICAM3, ICAM4, ICAM5, ILF3, ILF3-DT, KANK2, KEAP1, KRI1, LDLR, LDLR-AS1, LIMASI, LOC100505555, LOC105372273, LOC107080555, LOC110121441, LOC113939967, LOC116276501, LOC116276502, LOC125371474, LOC125371475, LOC125371476, LOC125371477, LOC126862852, LOC126862853, LOC126862854, LOC126862855, LOC126862856, MIR1181, MIR1238, MIR199A1, MIR4322, MIR4748, MIR5589, MIR638, MIR6793, MIR6886, MRPL4, OLFM2, P2RY11, PDE4A, PIN1, PIN1-DT, PPAN, PPAN-P2RY11, QTRT1, RAVER1, RDH8, S1PR2, S1PR5, SHFL, SLC44A2, SMARCA4, SNORD105, SNORD105B, SPC24, TIMM29, TMED1, TYK2, UBL5, YIPF2, ZGLP1, ZNF846		See cases	Pathogenic (Jul 30, 2009)	no assertion criteria provided
Select item 591113.	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3 GRCh37: Chr19:10425934-14159806 GRCh38: Chr19:10315258-14048994	ACP5, ANGPTL8, AP1M2, ATG4D, BEST2, BRME1, C19orf38, C19orf53, CACNA1A, CALR, CARM1, CC2D1A, CCDC159, CDC37, CDKN2D, CNN1, DAND5, DCAF15, DHPS, DNASE2, DNM2, DOCK6, ECSIT, ELAVL3, ELOF1, EPOR, FARSA, FARSA-AS1, FBXW9, FDX2, FDX2-ZGLP1, GADD45GIP1, GCDH, GET3, GNG14, HOOK2, ICAM3, IER2, IL27RA, ILF3, ILF3-DT, JUNB, KANK2, KEAP1, KLF1, KRI1, LDLR, LDLR-AS1, LINC02926, LOC105372273, LOC108663985, LOC110121441, LOC110121458, LOC111365163, LOC112543445, LOC112543446, LOC112543448, LOC112543452, LOC112543454, LOC112543455, LOC112543458, LOC112543459, LOC116276503, LOC116276504, LOC116276505, LOC117038783, LOC117038784, LOC117038785, LOC117038786, LOC117038787, LOC117038788, LOC117038789, LOC117038790, LOC117038791, LOC117038792, LOC117038793, LOC117038794, LOC117038795, LOC117125585, LOC117125586, LOC117125587, LOC117125588, LOC117125589, LOC117125590, LOC117125591, LOC117125592, LOC117125593, LOC117125594, LOC117125595, LOC117125596, LOC117125597, LOC117125598, LOC121852977, LOC121852978, LOC121852979, LOC121852980, LOC121852981, LOC125371477, LOC125371478, LOC125371479, LOC125371480, LOC125371481, LOC126862855, LOC126862856, LOC126862857, LOC126862858, LOC126862859, LOC126862860, LOC126862861, LOC126862862, LOC126862863, LOC126862864, LOC126862865, LOC126862866, LOC648044, LYL1, MAN2B1, MAST1, MIR1181, MIR1238, MIR181C, MIR181D, MIR199A1, MIR23A, MIR23AHG, MIR24-2, MIR27A, MIR4748, MIR5684, MIR5695, MIR638, MIR6515, MIR6793, MIR6794, MIR6886, MIR7974, MRI1, NACC1, NANOS3, NFIX, ODAD3, PDE4A, PLPPR2, PODNL1, PRDX2, PRKCSH, QTRT1, RAB3D, RAD23A, RAVER1, RFX1, RGL3, RLN3, RNASEH2A, RTBDN, S1PR5, SLC44A2, SMARCA4, SNORD135, SNORD41, SPC24, STX10, SWSAP1, SYCE2, THSD8, TIMM29, TMED1, TMEM205, TNPO2, TRIR, TRMT1, TSPAN16, TYK2, WDR83, WDR83OS, YIPF2, YJU2B, ZNF136, ZNF20, ZNF433, ZNF433-AS1, ZNF439, ZNF44, ZNF440, ZNF441, ZNF442, ZNF443, ZNF490, ZNF491, ZNF563, ZNF564, ZNF625, ZNF625-ZNF20, ZNF627, ZNF653, ZNF69, ZNF700, ZNF709, ZNF763, ZNF791, ZNF799, ZNF823, ZNF844, ZNF878, ZSWIM4		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 1530694.	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1 GRCh37: Chr19:10430150-13888674 GRCh38: Chr19:10319474-13777860	ACP5, ANGPTL8, AP1M2, ATG4D, BEST2, C19orf38, C19orf53, CACNA1A, CALR, CARM1, CCDC159, CDC37, CDKN2D, CNN1, DAND5, DHPS, DNASE2, DNM2, DOCK6, ECSIT, ELAVL3, ELOF1, EPOR, FARSA, FARSA-AS1, FBXW9, GADD45GIP1, GCDH, GET3, GNG14, HOOK2, ICAM3, IER2, ILF3, ILF3-DT, JUNB, KANK2, KEAP1, KLF1, KRI1, LDLR, LDLR-AS1, LINC02926, LOC105372273, LOC108663985, LOC110121441, LOC110121458, LOC111365163, LOC112543445, LOC112543446, LOC112543448, LOC112543452, LOC112543454, LOC112543455, LOC112543458, LOC112543459, LOC116276503, LOC117038783, LOC117038784, LOC117038785, LOC117038786, LOC117038787, LOC117038788, LOC117038789, LOC117038790, LOC117038791, LOC117038792, LOC117038793, LOC117038794, LOC117038795, LOC117125585, LOC117125586, LOC117125587, LOC117125588, LOC117125589, LOC117125590, LOC117125591, LOC117125592, LOC117125593, LOC117125594, LOC117125595, LOC117125596, LOC117125597, LOC117125598, LOC121852977, LOC121852978, LOC121852979, LOC121852980, LOC121852981, LOC125371477, LOC125371478, LOC125371479, LOC125371480, LOC125371481, LOC126862855, LOC126862856, LOC126862857, LOC126862858, LOC126862859, LOC126862860, LOC126862861, LOC126862862, LOC126862863, LOC126862864, LOC126862865, LOC126862866, LOC648044, LYL1, MAN2B1, MAST1, MIR1181, MIR1238, MIR199A1, MIR4748, MIR5684, MIR5695, MIR638, MIR6515, MIR6793, MIR6794, MIR6886, MIR7974, MRI1, NACC1, NFIX, ODAD3, PDE4A, PLPPR2, PRDX2, PRKCSH, QTRT1, RAB3D, RAD23A, RAVER1, RGL3, RNASEH2A, RTBDN, S1PR5, SLC44A2, SMARCA4, SNORD135, SNORD41, SPC24, STX10, SWSAP1, SYCE2, THSD8, TIMM29, TMED1, TMEM205, TNPO2, TRIR, TRMT1, TSPAN16, TYK2, WDR83, WDR83OS, YIPF2, YJU2B, ZNF136, ZNF20, ZNF433, ZNF433-AS1, ZNF439, ZNF44, ZNF440, ZNF441, ZNF442, ZNF443, ZNF490, ZNF491, ZNF563, ZNF564, ZNF625, ZNF625-ZNF20, ZNF627, ZNF653, ZNF69, ZNF700, ZNF709, ZNF763, ZNF791, ZNF799, ZNF823, ZNF844, ZNF878		See cases	Pathogenic (Oct 1, 2010)	no assertion criteria provided
Select item 6797135.	NM_001128849.1(SMARCA4):c.-322G>T GRCh37: Chr19:11071560 GRCh38: Chr19:10960884	SMARCA4		not provided	Benign (Jun 18, 2018)	criteria provided, single submitter
Select item 3280156.	NM_003072.5(SMARCA4):c.-72C>T GRCh37: Chr19:11071810 GRCh38: Chr19:10961134	SMARCA4		Coffin-Siris syndrome	Likely benign (Apr 27, 2017)	criteria provided, single submitter
Select item 3280167.	NM_003072.5(SMARCA4):c.-43C>T GRCh37: Chr19:11071839 GRCh38: Chr19:10961163	SMARCA4		Coffin-Siris syndrome, not provided	Likely benign (Mar 28, 2018)	criteria provided, multiple submitters, no conflicts
Select item 3280178.	NM_003072.5(SMARCA4):c.-32+11C>T GRCh37: Chr19:11071861 GRCh38: Chr19:10961185	SMARCA4		Coffin-Siris syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 16948889.	NM_003072.5(SMARCA4):c.-32+29C>T GRCh37: Chr19:11071879 GRCh38: Chr19:10961203	SMARCA4		not provided	Benign (Jun 1, 2022)	criteria provided, single submitter
Select item 80352010.	NM_003072.5(SMARCA4):c.-32+34C>T GRCh37: Chr19:11071884 GRCh38: Chr19:10961208	SMARCA4		Rhabdoid tumor predisposition syndrome 2	Uncertain significance (May 28, 2019)	criteria provided, single submitter
Select item 121953811.	NM_003072.5(SMARCA4):c.-32+68G>A GRCh37: Chr19:11071918 GRCh38: Chr19:10961242	SMARCA4		not provided	Likely benign (Jul 8, 2018)	criteria provided, single submitter
Select item 117770212.	NM_003072.5(SMARCA4):c.-31-206C>T GRCh37: Chr19:11094591 GRCh38: Chr19:10983915	SMARCA4		not provided	Likely benign (Jun 23, 2018)	criteria provided, single submitter
Select item 131547913.	NM_003072.5(SMARCA4):c.-31-8T>G GRCh37: Chr19:11094789 GRCh38: Chr19:10984113	SMARCA4		not provided	Uncertain significance (Feb 12, 2020)	criteria provided, single submitter
Select item 169258714.	NM_003072.5(SMARCA4):c.-31-6T>C GRCh37: Chr19:11094791 GRCh38: Chr19:10984115	SMARCA4		Hereditary cancer-predisposing syndrome	Uncertain significance (Feb 15, 2022)	criteria provided, single submitter
Select item 41744215.	NC_000019.10:g.(?_10984121)_(11062282_?)del GRCh37: Chr19:11094797-11172958 GRCh38: Chr19:10984121-11062282	SMARCA4		Rhabdoid tumor predisposition syndrome 2	Pathogenic (Oct 24, 2016)	criteria provided, single submitter
Select item 58385216.	NC_000019.9:g.(?_11094818)_(11107066_?)dup GRCh37: Chr19:11094818-11107066 GRCh38: Chr19:10984142-10996390	SMARCA4		Rhabdoid tumor predisposition syndrome 2	Uncertain significance (May 14, 2018)	criteria provided, single submitter
Select item 82612317.	NM_003072.5(SMARCA4):c.-5T>G GRCh37: Chr19:11094823 GRCh38: Chr19:10984147	SMARCA4		Hereditary cancer-predisposing syndrome	Uncertain significance (Oct 29, 2018)	criteria provided, single submitter
Select item 132194918.	NM_003072.5(SMARCA4):c.3G>A (p.Met1Ile) GRCh37: Chr19:11094830 GRCh38: Chr19:10984154	SMARCA4	M1I	Neurodevelopmental disorder, Rhabdoid tumor predisposition syndrome 2	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 51501919.	NM_003072.5(SMARCA4):c.6C>T (p.Ser2=) GRCh37: Chr19:11094833 GRCh38: Chr19:10984157	SMARCA4		Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome, not specified	Likely benign (Apr 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 213343220.	NM_003072.5(SMARCA4):c.7A>G (p.Thr3Ala) GRCh37: Chr19:11094834 GRCh38: Chr19:10984158	SMARCA4	T3A	Rhabdoid tumor predisposition syndrome 2	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 66121021.	NM_003072.5(SMARCA4):c.7A>C (p.Thr3Pro) GRCh37: Chr19:11094834 GRCh38: Chr19:10984158	SMARCA4	T3P	Intellectual disability, autosomal dominant 16, Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome	Uncertain significance (Jun 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 171946122.	NM_003072.5(SMARCA4):c.8C>A (p.Thr3Asn) GRCh37: Chr19:11094835 GRCh38: Chr19:10984159	SMARCA4	T3N	Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2	Uncertain significance (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 150093023.	NM_003072.5(SMARCA4):c.8C>T (p.Thr3Ile) GRCh37: Chr19:11094835 GRCh38: Chr19:10984159	SMARCA4	T3I	Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2	Uncertain significance (May 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 82360224.	NM_003072.5(SMARCA4):c.9T>C (p.Thr3=) GRCh37: Chr19:11094836 GRCh38: Chr19:10984160	SMARCA4		Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome	Likely benign (May 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102414925.	NM_003072.5(SMARCA4):c.10C>G (p.Pro4Ala) GRCh37: Chr19:11094837 GRCh38: Chr19:10984161	SMARCA4	P4A	Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome	Uncertain significance (Aug 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 85073926.	NM_003072.5(SMARCA4):c.10C>T (p.Pro4Ser) GRCh37: Chr19:11094837 GRCh38: Chr19:10984161	SMARCA4	P4S	Rhabdoid tumor predisposition syndrome 2, not provided	Uncertain significance (Aug 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 174702527.	NM_003072.5(SMARCA4):c.11C>A (p.Pro4Gln) GRCh37: Chr19:11094838 GRCh38: Chr19:10984162	SMARCA4	P4Q	Hereditary cancer-predisposing syndrome	Uncertain significance (Mar 17, 2021)	criteria provided, single submitter
Select item 177177128.	NM_003072.5(SMARCA4):c.13G>C (p.Asp5His) GRCh37: Chr19:11094840 GRCh38: Chr19:10984164	SMARCA4	D5H	Hereditary cancer-predisposing syndrome	Uncertain significance (Feb 14, 2022)	criteria provided, single submitter
Select item 111153929.	NM_003072.5(SMARCA4):c.15C>T (p.Asp5=) GRCh37: Chr19:11094842 GRCh38: Chr19:10984166	SMARCA4		Rhabdoid tumor predisposition syndrome 2	Likely benign (Aug 12, 2021)	criteria provided, single submitter
Select item 96113930.	NM_003072.5(SMARCA4):c.17C>A (p.Pro6Gln) GRCh37: Chr19:11094844 GRCh38: Chr19:10984168	SMARCA4	P6Q	Rhabdoid tumor predisposition syndrome 2	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 147264631.	NM_003072.5(SMARCA4):c.19C>A (p.Pro7Thr) GRCh37: Chr19:11094846 GRCh38: Chr19:10984170	SMARCA4	P7T	Rhabdoid tumor predisposition syndrome 2	Uncertain significance (Aug 16, 2021)	criteria provided, single submitter
Select item 105657432.	NM_003072.5(SMARCA4):c.20C>G (p.Pro7Arg) GRCh37: Chr19:11094847 GRCh38: Chr19:10984171	SMARCA4	P7R	Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2	Uncertain significance (Aug 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 57320933.	NM_003072.5(SMARCA4):c.20C>A (p.Pro7His) GRCh37: Chr19:11094847 GRCh38: Chr19:10984171	SMARCA4	P7H	Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2, Intellectual disability, autosomal dominant 16	Uncertain significance (Sep 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 178759134.	NM_003072.5(SMARCA4):c.21C>T (p.Pro7_Leu8=) GRCh37: Chr19:11094848 GRCh38: Chr19:10984172	SMARCA4		Hereditary cancer-predisposing syndrome	Likely benign (Nov 4, 2020)	criteria provided, single submitter
Select item 114563235.	NM_003072.5(SMARCA4):c.21C>G (p.Pro7=) GRCh37: Chr19:11094848 GRCh38: Chr19:10984172	SMARCA4		Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2	Likely benign (Apr 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 178925436.	NM_003072.5(SMARCA4):c.22C>A (p.Leu8Met) GRCh37: Chr19:11094849 GRCh38: Chr19:10984173	SMARCA4	L8M	Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2	Uncertain significance (Jun 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 47030037.	NM_003072.5(SMARCA4):c.22C>T (p.Leu8=) GRCh37: Chr19:11094849 GRCh38: Chr19:10984173	SMARCA4		Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2	Likely benign (Aug 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 110351538.	NM_003072.5(SMARCA4):c.24G>T (p.Leu8=) GRCh37: Chr19:11094851 GRCh38: Chr19:10984175	SMARCA4		Rhabdoid tumor predisposition syndrome 2	Likely benign (Jan 1, 2020)	criteria provided, single submitter
Select item 48647539.	NM_003072.5(SMARCA4):c.24G>C (p.Leu8=) GRCh37: Chr19:11094851 GRCh38: Chr19:10984175	SMARCA4		Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2	Likely benign (Jul 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 58840740.	NM_003072.5(SMARCA4):c.25G>A (p.Gly9Ser) GRCh37: Chr19:11094852 GRCh38: Chr19:10984176	SMARCA4	G9S	Hereditary cancer-predisposing syndrome	Uncertain significance (Nov 3, 2016)	criteria provided, single submitter
Select item 140614641.	NM_003072.5(SMARCA4):c.26G>A (p.Gly9Asp) GRCh37: Chr19:11094853 GRCh38: Chr19:10984177	SMARCA4	G9D	Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2	Uncertain significance (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 179617042.	NM_003072.5(SMARCA4):c.27C>G (p.Gly9_Gly10=) GRCh37: Chr19:11094854 GRCh38: Chr19:10984178	SMARCA4		Hereditary cancer-predisposing syndrome	Likely benign (Mar 11, 2020)	criteria provided, single submitter
Select item 75489443.	NM_003072.5(SMARCA4):c.27C>A (p.Gly9=) GRCh37: Chr19:11094854 GRCh38: Chr19:10984178	SMARCA4		Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome	Likely benign (Jul 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 23841544.	NM_003072.5(SMARCA4):c.27C>T (p.Gly9=) GRCh37: Chr19:11094854 GRCh38: Chr19:10984178	SMARCA4		Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2	Likely benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 66605645.	NM_003072.5(SMARCA4):c.28G>A (p.Gly10Arg) GRCh37: Chr19:11094855 GRCh38: Chr19:10984179	SMARCA4	G10R	Rhabdoid tumor predisposition syndrome 2	Uncertain significance (Oct 14, 2022)	criteria provided, single submitter
Select item 40861746.	NM_003072.5(SMARCA4):c.31A>G (p.Thr11Ala) GRCh37: Chr19:11094858 GRCh38: Chr19:10984182	SMARCA4	T11A	Rhabdoid tumor predisposition syndrome 2, Intellectual disability, autosomal dominant 16, Hereditary cancer-predisposing syndrome	Uncertain significance (Feb 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 64385847.	NM_003072.5(SMARCA4):c.32C>G (p.Thr11Ser) GRCh37: Chr19:11094859 GRCh38: Chr19:10984183	SMARCA4	T11S	Rhabdoid tumor predisposition syndrome 2	Uncertain significance (Dec 9, 2021)	criteria provided, single submitter
Select item 57508648.	NM_003072.5(SMARCA4):c.32C>T (p.Thr11Ile) GRCh37: Chr19:11094859 GRCh38: Chr19:10984183	SMARCA4	T11I	Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2	Uncertain significance (Jun 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 47034949.	NM_003072.5(SMARCA4):c.33T>C (p.Thr11=) GRCh37: Chr19:11094860 GRCh38: Chr19:10984184	SMARCA4		Rhabdoid tumor predisposition syndrome 2	Likely benign (May 16, 2017)	criteria provided, single submitter
Select item 173205050.	NM_003072.5(SMARCA4):c.34C>T (p.Pro12Ser) GRCh37: Chr19:11094861 GRCh38: Chr19:10984185	SMARCA4	P12S	Hereditary cancer-predisposing syndrome	Uncertain significance (Oct 14, 2020)	criteria provided, single submitter
Select item 48494451.	NM_003072.5(SMARCA4):c.35C>T (p.Pro12Leu) GRCh37: Chr19:11094862 GRCh38: Chr19:10984186	SMARCA4	P12L	Intellectual disability, autosomal dominant 16, Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2	Uncertain significance (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 108292952.	NM_003072.5(SMARCA4):c.36T>C (p.Pro12=) GRCh37: Chr19:11094863 GRCh38: Chr19:10984187	SMARCA4		Rhabdoid tumor predisposition syndrome 2	Likely benign (May 13, 2019)	criteria provided, single submitter
Select item 63934453.	NM_003072.5(SMARCA4):c.37C>A (p.Arg13=) GRCh37: Chr19:11094864 GRCh38: Chr19:10984188	SMARCA4		Rhabdoid tumor predisposition syndrome 2	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 56640954.	NM_003072.5(SMARCA4):c.37C>T (p.Arg13Trp) GRCh37: Chr19:11094864 GRCh38: Chr19:10984188	SMARCA4	R13W	Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2	Uncertain significance (Jul 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 194294155.	NM_003072.5(SMARCA4):c.38G>T (p.Arg13Leu) GRCh37: Chr19:11094865 GRCh38: Chr19:10984189	SMARCA4	R13L	Rhabdoid tumor predisposition syndrome 2	Uncertain significance (Feb 19, 2022)	criteria provided, single submitter
Select item 173600756.	NM_003072.5(SMARCA4):c.38G>C (p.Arg13Pro) GRCh37: Chr19:11094865 GRCh38: Chr19:10984189	SMARCA4	R13P	Hereditary cancer-predisposing syndrome	Uncertain significance (Aug 27, 2020)	criteria provided, single submitter
Select item 47037357.	NM_003072.5(SMARCA4):c.38G>A (p.Arg13Gln) GRCh37: Chr19:11094865 GRCh38: Chr19:10984189	SMARCA4	R13Q	Intellectual disability, autosomal dominant 16, Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2	Uncertain significance (Apr 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 173688558.	NM_003072.5(SMARCA4):c.39G>T (p.Arg13_Pro14=) GRCh37: Chr19:11094866 GRCh38: Chr19:10984190	SMARCA4		Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2	Likely benign (Jul 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 152873859.	NM_003072.5(SMARCA4):c.39G>A (p.Arg13=) GRCh37: Chr19:11094866 GRCh38: Chr19:10984190	SMARCA4		Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2	Likely benign (Sep 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106018260.	NM_003072.5(SMARCA4):c.40_41delinsGA (p.Pro14Glu) GRCh37: Chr19:11094867-11094868 GRCh38: Chr19:10984191-10984192	SMARCA4	P14E	Rhabdoid tumor predisposition syndrome 2	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 56633361.	NM_003072.5(SMARCA4):c.40C>A (p.Pro14Thr) GRCh37: Chr19:11094867 GRCh38: Chr19:10984191	SMARCA4	P14T	Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2	Uncertain significance (Mar 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 212707062.	NM_003072.5(SMARCA4):c.42A>C (p.Pro14_Gly15=) GRCh37: Chr19:11094869 GRCh38: Chr19:10984193	SMARCA4		Rhabdoid tumor predisposition syndrome 2	Likely benign (Apr 16, 2022)	criteria provided, single submitter
Select item 82476763.	NM_003072.5(SMARCA4):c.42A>G (p.Pro14=) GRCh37: Chr19:11094869 GRCh38: Chr19:10984193	SMARCA4		Hereditary cancer-predisposing syndrome	Likely benign (Jan 14, 2019)	criteria provided, single submitter
Select item 174103864.	NM_003072.5(SMARCA4):c.44G>A (p.Gly15Asp) GRCh37: Chr19:11094871 GRCh38: Chr19:10984195	SMARCA4	G15D	Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2	Uncertain significance (Apr 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 82494965.	NM_003072.5(SMARCA4):c.44G>C (p.Gly15Ala) GRCh37: Chr19:11094871 GRCh38: Chr19:10984195	SMARCA4	G15A	Hereditary cancer-predisposing syndrome	Uncertain significance (Feb 7, 2018)	criteria provided, single submitter
Select item 40863766.	NM_003072.5(SMARCA4):c.44G>T (p.Gly15Val) GRCh37: Chr19:11094871 GRCh38: Chr19:10984195	SMARCA4	G15V	Rhabdoid tumor predisposition syndrome 2	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 174317867.	NM_003072.5(SMARCA4):c.47C>G (p.Pro16Arg) GRCh37: Chr19:11094874 GRCh38: Chr19:10984198	SMARCA4	P16R	Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2	Uncertain significance (Jun 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 95483268.	NM_003072.5(SMARCA4):c.50C>T (p.Ser17Phe) GRCh37: Chr19:11094877 GRCh38: Chr19:10984201	SMARCA4	S17F	Rhabdoid tumor predisposition syndrome 2	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 174601069.	NM_003072.5(SMARCA4):c.51C>A (p.Ser17_Pro18=) GRCh37: Chr19:11094878 GRCh38: Chr19:10984202	SMARCA4		Hereditary cancer-predisposing syndrome	Likely benign (Oct 6, 2020)	criteria provided, single submitter
Select item 76269570.	NM_003072.5(SMARCA4):c.51C>G (p.Ser17=) GRCh37: Chr19:11094878 GRCh38: Chr19:10984202	SMARCA4		Rhabdoid tumor predisposition syndrome 2	Likely benign (Nov 21, 2019)	criteria provided, single submitter
Select item 47043671.	NM_003072.5(SMARCA4):c.51C>T (p.Ser17=) GRCh37: Chr19:11094878 GRCh38: Chr19:10984202	SMARCA4		Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome	Likely benign (Oct 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 40865672.	NM_003072.5(SMARCA4):c.53C>T (p.Pro18Leu) GRCh37: Chr19:11094880 GRCh38: Chr19:10984204	SMARCA4	P18L	Hereditary cancer-predisposing syndrome, Intellectual disability, autosomal dominant 16, not provided, Rhabdoid tumor predisposition syndrome 2	Conflicting interpretations of pathogenicity (Aug 16, 2022)	criteria provided, conflicting interpretations
Select item 161480473.	NM_003072.5(SMARCA4):c.54G>C (p.Pro18=) GRCh37: Chr19:11094881 GRCh38: Chr19:10984205	SMARCA4		Rhabdoid tumor predisposition syndrome 2	Likely benign (Nov 2, 2021)	criteria provided, single submitter
Select item 23850574.	NM_003072.5(SMARCA4):c.54G>A (p.Pro18=) GRCh37: Chr19:11094881 GRCh38: Chr19:10984205	SMARCA4		Intellectual disability, autosomal dominant 16, Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome	Benign/Likely benign (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 141537675.	NM_003072.5(SMARCA4):c.56G>C (p.Gly19Ala) GRCh37: Chr19:11094883 GRCh38: Chr19:10984207	SMARCA4	G19A	Rhabdoid tumor predisposition syndrome 2	Uncertain significance (Nov 15, 2021)	criteria provided, single submitter
Select item 163345876.	NM_003072.5(SMARCA4):c.57C>G (p.Gly19=) GRCh37: Chr19:11094884 GRCh38: Chr19:10984208	SMARCA4		Rhabdoid tumor predisposition syndrome 2	Likely benign (Oct 27, 2022)	criteria provided, single submitter
Select item 153166177.	NM_003072.5(SMARCA4):c.57C>T (p.Gly19=) GRCh37: Chr19:11094884 GRCh38: Chr19:10984208	SMARCA4		Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome	Likely benign (Jan 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 109926178.	NM_003072.5(SMARCA4):c.63C>T (p.Gly21=) GRCh37: Chr19:11094890 GRCh38: Chr19:10984214	SMARCA4		Rhabdoid tumor predisposition syndrome 2	Likely benign (Aug 22, 2020)	criteria provided, single submitter
Select item 200087679.	NM_003072.5(SMARCA4):c.64C>G (p.Pro22Ala) GRCh37: Chr19:11094891 GRCh38: Chr19:10984215	SMARCA4	P22A	Rhabdoid tumor predisposition syndrome 2	Uncertain significance (May 30, 2022)	criteria provided, single submitter
Select item 83541480.	NM_003072.5(SMARCA4):c.64C>T (p.Pro22Ser) GRCh37: Chr19:11094891 GRCh38: Chr19:10984215	SMARCA4	P22S	Rhabdoid tumor predisposition syndrome 2	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 53779981.	NM_003072.5(SMARCA4):c.65C>A (p.Pro22His) GRCh37: Chr19:11094892 GRCh38: Chr19:10984216	SMARCA4	P22H	Intellectual disability, autosomal dominant 16, Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2	Uncertain significance (Feb 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 48645982.	NM_003072.5(SMARCA4):c.65C>T (p.Pro22Leu) GRCh37: Chr19:11094892 GRCh38: Chr19:10984216	SMARCA4	P22L	Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2, Intellectual disability, autosomal dominant 16	Uncertain significance (May 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 47044483.	NM_003072.5(SMARCA4):c.65C>G (p.Pro22Arg) GRCh37: Chr19:11094892 GRCh38: Chr19:10984216	SMARCA4	P22R	Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 158508984.	NM_003072.5(SMARCA4):c.66T>C (p.Pro22=) GRCh37: Chr19:11094893 GRCh38: Chr19:10984217	SMARCA4		Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome	Likely benign (May 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 147219285.	NM_003072.5(SMARCA4):c.68C>T (p.Ser23Phe) GRCh37: Chr19:11094895 GRCh38: Chr19:10984219	SMARCA4	S23F	Rhabdoid tumor predisposition syndrome 2	Uncertain significance (Nov 8, 2021)	criteria provided, single submitter
Select item 84021486.	NM_003072.5(SMARCA4):c.68C>G (p.Ser23Cys) GRCh37: Chr19:11094895 GRCh38: Chr19:10984219	SMARCA4	S23C	Rhabdoid tumor predisposition syndrome 2	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 48495087.	NM_003072.5(SMARCA4):c.68C>A (p.Ser23Tyr) GRCh37: Chr19:11094895 GRCh38: Chr19:10984219	SMARCA4	S23Y	Hereditary cancer-predisposing syndrome	Uncertain significance (Feb 16, 2017)	criteria provided, single submitter
Select item 112980388.	NM_003072.5(SMARCA4):c.69C>G (p.Ser23=) GRCh37: Chr19:11094896 GRCh38: Chr19:10984220	SMARCA4		Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2	Likely benign (Mar 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 23851389.	NM_003072.5(SMARCA4):c.69C>T (p.Ser23=) GRCh37: Chr19:11094896 GRCh38: Chr19:10984220	SMARCA4		Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2	Likely benign (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 175766390.	NM_003072.5(SMARCA4):c.72_101del (p.Gly25_Pro34del) GRCh37: Chr19:11094897-11094926 GRCh38: Chr19:10984221-10984250	SMARCA4		Hereditary cancer-predisposing syndrome	Uncertain significance (Nov 4, 2020)	criteria provided, single submitter
Select item 83481791.	NM_003072.5(SMARCA4):c.70C>T (p.Pro24Ser) GRCh37: Chr19:11094897 GRCh38: Chr19:10984221	SMARCA4	P24S	Rhabdoid tumor predisposition syndrome 2	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 40859892.	NM_003072.5(SMARCA4):c.70C>G (p.Pro24Ala) GRCh37: Chr19:11094897 GRCh38: Chr19:10984221	SMARCA4	P24A	not provided, Hereditary cancer-predisposing syndrome, Intellectual disability, autosomal dominant 16, Rhabdoid tumor predisposition syndrome 2	Uncertain significance (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 40859793.	NM_003072.5(SMARCA4):c.71C>G (p.Pro24Arg) GRCh37: Chr19:11094898 GRCh38: Chr19:10984222	SMARCA4	P24R	Rhabdoid tumor predisposition syndrome 2, Intellectual disability, autosomal dominant 16, Hereditary cancer-predisposing syndrome	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 47045794.	NM_003072.5(SMARCA4):c.72T>C (p.Pro24=) GRCh37: Chr19:11094899 GRCh38: Chr19:10984223	SMARCA4		Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2	Likely benign (Jun 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 57597895.	NM_003072.5(SMARCA4):c.73G>A (p.Gly25Arg) GRCh37: Chr19:11094900 GRCh38: Chr19:10984224	SMARCA4	G25R	Rhabdoid tumor predisposition syndrome 2	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 57370596.	NM_003072.5(SMARCA4):c.74_76del (p.Gly25del) GRCh37: Chr19:11094900-11094902 GRCh38: Chr19:10984224-10984226	SMARCA4	G25del	Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome, Intellectual disability, autosomal dominant 16	Uncertain significance (Jul 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 203458897.	NM_003072.5(SMARCA4):c.75A>C (p.Gly25_Ala26=) GRCh37: Chr19:11094902 GRCh38: Chr19:10984226	SMARCA4		Rhabdoid tumor predisposition syndrome 2	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 114590798.	NM_003072.5(SMARCA4):c.75A>T (p.Gly25=) GRCh37: Chr19:11094902 GRCh38: Chr19:10984226	SMARCA4		Rhabdoid tumor predisposition syndrome 2	Likely benign (Nov 21, 2019)	criteria provided, single submitter
Select item 176021799.	NM_003072.5(SMARCA4):c.76G>C (p.Ala26Pro) GRCh37: Chr19:11094903 GRCh38: Chr19:10984227	SMARCA4	A26P	Hereditary cancer-predisposing syndrome	Uncertain significance (Sep 20, 2022)	criteria provided, single submitter
Select item 135246100.	NM_003072.5(SMARCA4):c.76G>A (p.Ala26Thr) GRCh37: Chr19:11094903 GRCh38: Chr19:10984227	SMARCA4	A26T	not provided, Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2, Intellectual disability, autosomal dominant 16	Conflicting interpretations of pathogenicity (Oct 31, 2022)	criteria provided, conflicting interpretations

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