TGFBR2[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Search results

Items: 1 to 100 of 921

<< First< Prev

Page of 10

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 573971.	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3 GRCh37: Chr3:93949-37189567 GRCh38: Chr3:52266-37148076	ANKRD28, ARL8B, ARPC4, ARPC4-TTLL3, ARPP21, ATG7, ATP2B2, ATP2B2-IT2, AZI2, BALR6, BHLHE40, BHLHE40-AS1, BRK1, BRPF1, BTD, C3orf20, CAMK1, CAND2, CAPN7, CAV3, CCDC174, CCR4, CHCHD4, CHL1, CHL1-AS1, CHL1-AS2, CIDEC, CLASP2, CMC1, CMTM6, CMTM7, CMTM8, CNOT10, CNTN4, CNTN4-AS1, CNTN4-AS2, CNTN6, COLQ, CPNE9, CRBN, CRELD1, CRTAP, DAZL, DCLK3, DPH3, DYNC1LI1, EAF1, EDEM1, EFHB, EGOT, EMC3, EMC3-AS1, EOMES, EPM2AIP1, FANCD2, FANCD2OS, FBLN2, FBXL2, FGD5, FGD5-AS1, GADL1, GALNT15, GHRL, GHRLOS, GLB1, GPD1L, GRIP2, GRM7, GRM7-AS1, GRM7-AS2, GRM7-AS3, HACL1, HDAC11, HDAC11-AS1, HRH1, IL17RC, IL17RE, IL5RA, IQSEC1, IRAK2, ITPR1, ITPR1-DT, JAGN1, KAT2B, KCNH8, LHFPL4, LINC00312, LINC00606, LINC00620, LINC00690, LINC00691, LINC00692, LINC00693, LINC00852, LINC01266, LINC01267, LINC01811, LINC01980, LINC01981, LINC01985, LINC02011, LINC02022, LINC02033, LINC02084, LMCD1, LMCD1-AS1, LOC100130207, LOC101927394, LOC101927829, LOC101928135, LOC105376975, LOC107133518, LOC107303337, LOC107303338, LOC107303339, LOC107303340, LOC107303341, LOC107303342, LOC107457584, LOC107522028, LOC107522035, LOC108254666, LOC110120630, LOC110121143, LOC111365150, LOC111365223, LOC111429626, LOC111465009, LOC111501778, LOC111501788, LOC112268445, LOC112841609, LOC112848342, LOC112903834, LOC112903841, LOC112935902, LOC112935927, LOC112935928, LOC112935931, LOC112935932, LOC112935963, LOC114004374, LOC114803475, LOC115995504, LOC115995505, LOC115995506, LOC115995507, LOC115995508, LOC121009636, LOC121009637, LOC121009638, LOC121009639, LOC121009640, LOC121009641, LOC121009642, LOC121009643, LOC121009644, LOC121009651, LOC121009652, LOC121009653, LOC121009654, LOC121009655, LOC121009656, LOC121009657, LOC121725127, LOC121725128, LOC121725129, LOC121725130, LOC121725131, LOC121725132, LOC121725133, LOC121725134, LOC121725135, LOC121725136, LOC121725137, LOC121725138, LOC122889017, LOC122889018, LOC122889019, LOC122889020, LOC122889021, LOC122889022, LOC122889023, LOC122889024, LOC122889025, LOC122889026, LOC122889027, LOC122889028, LOC122889029, LOC122889030, LOC122889031, LOC122889032, LOC122889033, LOC122889034, LOC122889035, LOC122889036, LOC122889037, LOC122889038, LOC122889039, LOC122889040, LOC122889041, LOC122889042, LOC122889043, LOC122889044, LOC122889045, LOC122889046, LOC122889047, LOC122889048, LOC122889049, LOC122889050, LOC122889051, LOC122889052, LOC122889053, LOC122889054, LOC122889055, LOC122889056, LOC122889057, LOC122889058, LOC122889059, LOC122889060, LOC122889061, LOC122889062, LOC122889063, LOC122889064, LOC122889065, LOC122889066, LOC122889067, LOC126806585, LOC126806586, LOC126806587, LOC126806588, LOC126806589, LOC126806590, LOC126806591, LOC126806592, LOC126806593, LOC126806594, LOC126806595, LOC126806596, LOC126806597, LOC126806598, LOC126806599, LOC126806600, LOC126806601, LOC126806602, LOC126806603, LOC126806604, LOC126806605, LOC126806606, LOC126806607, LOC126806608, LOC126806609, LOC126806610, LOC126806611, LOC126806612, LOC126806613, LOC126806614, LOC126806615, LOC126806616, LOC126806617, LOC126806618, LOC126806619, LOC126806620, LOC126806621, LOC126806622, LOC126806623, LOC126806624, LOC126806625, LOC126806626, LOC126806627, LOC126806628, LOC126806629, LOC126806630, LOC126806631, LOC126806632, LOC126806633, LOC126806634, LOC126806635, LOC126806636, LOC126806637, LOC126806638, LOC126806639, LOC126806640, LOC126806641, LOC126806642, LOC126806643, LOC126806644, LOC126806645, LOC126806646, LOC126806647, LOC126806648, LOC126806649, LOC401052, LRRC3B, LRRC3B-AS1, LRRFIP2, LRRN1, LSM3, METTL6, MIR12127, MIR128-2, MIR3134, MIR3135A, MIR3714, MIR378B, MIR4270, MIR4442, MIR466, MIR4790, MIR4791, MIR4792, MIR548AY, MIR563, MIR885, MKRN2, MKRN2OS, MLH1, MRPS25, MTMR14, NEK10, NGLY1, NKIRAS1, NR1D2, NR2C2, NUP210, OGG1, OSBPL10, OSBPL10-AS1, OXNAD1, OXSM, OXTR, PDCD6IP, PDCD6IP-DT, PLCL2, PLCL2-AS1, PP2D1, PPARG, PRRT3, PRRT3-AS1, RAB5A, RAD18, RAF1, RARB, RARB-AS1, RBMS3, RBMS3-AS1, RBMS3-AS2, RBMS3-AS3, RBSN, RFTN1, RPL15, RPL32, RPUSD3, SATB1, SATB1-AS1, SEC13, SETD5, SETMAR, SGO1, SGO1-AS1, SH3BP5, SH3BP5-AS1, SLC4A7, SLC6A1, SLC6A1-AS1, SLC6A11, SLC6A6, SNORA7A, SNORA93, SRGAP3, SRGAP3-AS2, SRGAP3-AS3, SRGAP3-AS4, SSUH2, STAC, STT3B, SUMF1, SUSD5, SYN2, TADA3, TAMM41, TATDN2, TBC1D5, TGFBR2, THRB, THRB-AS1, THRB-AS2, THUMPD3, THUMPD3-AS1, TIMP4, TMEM40, TMEM43, TMPPE, TOP2B, TRANK1, TRIM71, TRNT1, TSEN2, TTLL3, UBE2E1, UBE2E1-AS1, UBE2E2, UBE2E2-DT, UBP1, VGLL4, VHL, WNT7A, XPC, ZCWPW2, ZNF385D, ZNF385D-AS1, ZNF385D-AS2, ZNF860		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 1534152.	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3 GRCh37: Chr3:94991-41423012 GRCh38: Chr3:53308-41381521	ACAA1, ACVR2B, ACVR2B-AS1, ANKRD28, APRG1, ARL8B, ARPC4, ARPC4-TTLL3, ARPP21, ATG7, ATP2B2, ATP2B2-IT2, AZI2, BALR6, BHLHE40, BHLHE40-AS1, BRK1, BRPF1, BTD, C3orf20, CAMK1, CAND2, CAPN7, CAV3, CCDC174, CCR4, CCR8, CHCHD4, CHL1, CHL1-AS1, CHL1-AS2, CIDEC, CLASP2, CMC1, CMTM6, CMTM7, CMTM8, CNOT10, CNTN4, CNTN4-AS1, CNTN4-AS2, CNTN6, COLQ, CPNE9, CRBN, CRELD1, CRTAP, CSRNP1, CTDSPL, CTNNB1, CX3CR1, DAZL, DCLK3, DLEC1, DPH3, DYNC1LI1, EAF1, EDEM1, EFHB, EGOT, EIF1B, EIF1B-AS1, EMC3, EMC3-AS1, ENTPD3, ENTPD3-AS1, EOMES, EPM2AIP1, EXOG, FANCD2, FANCD2OS, FBLN2, FBXL2, FGD5, FGD5-AS1, GADL1, GALNT15, GHRL, GHRLOS, GLB1, GOLGA4, GOLGA4-AS1, GORASP1, GPD1L, GRIP2, GRM7, GRM7-AS1, GRM7-AS2, GRM7-AS3, HACL1, HDAC11, HDAC11-AS1, HRH1, IL17RC, IL17RE, IL5RA, IQSEC1, IRAK2, ITGA9, ITGA9-AS1, ITPR1, ITPR1-DT, JAGN1, KAT2B, KCNH8, LHFPL4, LINC00312, LINC00606, LINC00620, LINC00690, LINC00691, LINC00692, LINC00693, LINC00852, LINC01266, LINC01267, LINC01811, LINC01980, LINC01981, LINC01985, LINC02011, LINC02022, LINC02033, LINC02084, LMCD1, LMCD1-AS1, LOC100130207, LOC101927394, LOC101927829, LOC101928135, LOC105376975, LOC107133518, LOC107303337, LOC107303338, LOC107303339, LOC107303340, LOC107303341, LOC107303342, LOC107457584, LOC107522028, LOC107522035, LOC108254666, LOC110120630, LOC110121143, LOC110121232, LOC110121269, LOC110121286, LOC110121287, LOC110121288, LOC111365149, LOC111365150, LOC111365223, LOC111429626, LOC111465007, LOC111465009, LOC111501778, LOC111501788, LOC112268445, LOC112841609, LOC112848342, LOC112903834, LOC112903841, LOC112935902, LOC112935927, LOC112935928, LOC112935929, LOC112935930, LOC112935931, LOC112935932, LOC112935933, LOC112935934, LOC112935935, LOC112935963, LOC114004374, LOC114803475, LOC115995504, LOC115995505, LOC115995506, LOC115995507, LOC115995508, LOC115995509, LOC120285841, LOC121009636, LOC121009637, LOC121009638, LOC121009639, LOC121009640, LOC121009641, LOC121009642, LOC121009643, LOC121009644, LOC121009651, LOC121009652, LOC121009653, LOC121009654, LOC121009655, LOC121009656, LOC121009657, LOC121009658, LOC121725127, LOC121725128, LOC121725129, LOC121725130, LOC121725131, LOC121725132, LOC121725133, LOC121725134, LOC121725135, LOC121725136, LOC121725137, LOC121725138, LOC121725139, LOC121725140, LOC122889017, LOC122889018, LOC122889019, LOC122889020, LOC122889021, LOC122889022, LOC122889023, LOC122889024, LOC122889025, LOC122889026, LOC122889027, LOC122889028, LOC122889029, LOC122889030, LOC122889031, LOC122889032, LOC122889033, LOC122889034, LOC122889035, LOC122889036, LOC122889037, LOC122889038, LOC122889039, LOC122889040, LOC122889041, LOC122889042, LOC122889043, LOC122889044, LOC122889045, LOC122889046, LOC122889047, LOC122889048, LOC122889049, LOC122889050, LOC122889051, LOC122889052, LOC122889053, LOC122889054, LOC122889055, LOC122889056, LOC122889057, LOC122889058, LOC122889059, LOC122889060, LOC122889061, LOC122889062, LOC122889063, LOC122889064, LOC122889065, LOC122889066, LOC122889067, LOC122889068, LOC122889069, LOC122889070, LOC122889071, LOC122889072, LOC122889073, LOC126806585, LOC126806586, LOC126806587, LOC126806588, LOC126806589, LOC126806590, LOC126806591, LOC126806592, LOC126806593, LOC126806594, LOC126806595, LOC126806596, LOC126806597, LOC126806598, LOC126806599, LOC126806600, LOC126806601, LOC126806602, LOC126806603, LOC126806604, LOC126806605, LOC126806606, LOC126806607, LOC126806608, LOC126806609, LOC126806610, LOC126806611, LOC126806612, LOC126806613, LOC126806614, LOC126806615, LOC126806616, LOC126806617, LOC126806618, LOC126806619, LOC126806620, LOC126806621, LOC126806622, LOC126806623, LOC126806624, LOC126806625, LOC126806626, LOC126806627, LOC126806628, LOC126806629, LOC126806630, LOC126806631, LOC126806632, LOC126806633, LOC126806634, LOC126806635, LOC126806636, LOC126806637, LOC126806638, LOC126806639, LOC126806640, LOC126806641, LOC126806642, LOC126806643, LOC126806644, LOC126806645, LOC126806646, LOC126806647, LOC126806648, LOC126806649, LOC126806650, LOC126806651, LOC126806652, LOC126806653, LOC126806654, LOC126806655, LOC126806656, LOC126806657, LOC126806658, LOC126806659, LOC401052, LRRC3B, LRRC3B-AS1, LRRFIP2, LRRN1, LSM3, METTL6, MIR12127, MIR128-2, MIR26A1, MIR3134, MIR3135A, MIR3714, MIR378B, MIR4270, MIR4442, MIR466, MIR4790, MIR4791, MIR4792, MIR548AY, MIR563, MIR6822, MIR885, MKRN2, MKRN2OS, MLH1, MOBP, MRPS25, MTMR14, MYD88, MYRIP, NEK10, NGLY1, NKIRAS1, NR1D2, NR2C2, NUP210, OGG1, OSBPL10, OSBPL10-AS1, OXNAD1, OXSM, OXSR1, OXTR, PDCD6IP, PDCD6IP-DT, PLCD1, PLCL2, PLCL2-AS1, PP2D1, PPARG, PRRT3, PRRT3-AS1, RAB5A, RAD18, RAF1, RARB, RARB-AS1, RBMS3, RBMS3-AS1, RBMS3-AS2, RBMS3-AS3, RBSN, RFTN1, RPL14, SCN10A, RPL15, RPL32, RPSA, RPUSD3, SATB1, SATB1-AS1, SCN11A, SCN5A, SEC13, SETD5, SETMAR, SGO1, SGO1-AS1, SH3BP5, SH3BP5-AS1, SLC22A13, SLC22A14, SLC25A38, SLC4A7, SLC6A1, SLC6A1-AS1, SLC6A11, SLC6A6, SNORA6, SNORA62, SNORA7A, SNORA93, SRGAP3, SRGAP3-AS2, SRGAP3-AS3, SRGAP3-AS4, SSUH2, STAC, STT3B, SUMF1, SUSD5, SYN2, TADA3, TAMM41, TATDN2, TBC1D5, TGFBR2, THRB, THRB-AS1, THRB-AS2, THUMPD3, THUMPD3-AS1, TIMP4, TMEM40, TMEM43, TMPPE, TOP2B, TRANK1, TRIM71, TRNT1, TSEN2, TTC21A, TTLL3, UBE2E1, UBE2E1-AS1, UBE2E2, UBE2E2-DT, UBP1, ULK4, VGLL4, VHL, VILL, WDR48, WNT7A, XIRP1, XPC, XYLB, ZCWPW2, ZNF385D, ZNF385D-AS1, ZNF385D-AS2, ZNF619, ZNF620, ZNF621, ZNF860		See cases	Pathogenic (Jun 4, 2013)	no assertion criteria provided
Select item 579783.	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3 GRCh37: Chr3:11504802-38961034 GRCh38: Chr3:11463328-38919543	ACAA1, ACVR2B, ACVR2B-AS1, ANKRD28, APRG1, ARPP21, ATG7, AZI2, BALR6, BTD, C3orf20, CAND2, CAPN7, CCDC174, CCR4, CHCHD4, CLASP2, CMC1, CMTM6, CMTM7, CMTM8, CNOT10, COLQ, CRTAP, CTDSPL, DAZL, DCLK3, DLEC1, DPH3, DYNC1LI1, EAF1, EFHB, EOMES, EPM2AIP1, EXOG, FBLN2, FBXL2, FGD5, FGD5-AS1, GADL1, GALNT15, GLB1, GOLGA4, GOLGA4-AS1, GPD1L, GRIP2, HACL1, HDAC11, HDAC11-AS1, IQSEC1, ITGA9, ITGA9-AS1, KAT2B, KCNH8, LINC00620, LINC00690, LINC00691, LINC00692, LINC00693, LINC01267, LINC01811, LINC01980, LINC01981, LINC01985, LINC02011, LINC02022, LINC02033, LINC02084, LOC101927829, LOC101928135, LOC105376975, LOC107133518, LOC107457584, LOC108254666, LOC110120630, LOC110121143, LOC110121232, LOC110121269, LOC110121286, LOC110121287, LOC110121288, LOC111365150, LOC111365223, LOC111465007, LOC111465009, LOC111501778, LOC112268445, LOC112903834, LOC112903841, LOC112935902, LOC112935927, LOC112935928, LOC112935929, LOC112935930, LOC114803475, LOC115995505, LOC115995506, LOC115995507, LOC115995508, LOC115995509, LOC120285841, LOC121009640, LOC121009641, LOC121009642, LOC121009643, LOC121009644, LOC121009651, LOC121009652, LOC121009653, LOC121009654, LOC121009655, LOC121009656, LOC121009657, LOC121725130, LOC121725131, LOC121725132, LOC121725133, LOC121725134, LOC121725135, LOC121725136, LOC121725137, LOC121725138, LOC121725139, LOC122889034, LOC122889035, LOC122889036, LOC122889037, LOC122889038, LOC122889039, LOC122889040, LOC122889041, LOC122889042, LOC122889043, LOC122889044, LOC122889045, LOC122889046, LOC122889047, LOC122889048, LOC122889049, LOC122889050, LOC122889051, LOC122889052, LOC122889053, LOC122889054, LOC122889055, LOC122889056, LOC122889057, LOC122889058, LOC122889059, LOC122889060, LOC122889061, LOC122889062, LOC122889063, LOC122889064, LOC122889065, LOC122889066, LOC122889067, LOC122889068, LOC122889069, LOC126806604, LOC126806605, LOC126806606, LOC126806607, LOC126806608, LOC126806609, LOC126806610, LOC126806611, LOC126806612, LOC126806613, LOC126806614, LOC126806615, LOC126806616, LOC126806617, LOC126806618, LOC126806619, LOC126806620, LOC126806621, LOC126806622, LOC126806623, LOC126806624, LOC126806625, LOC126806626, LOC126806627, LOC126806628, LOC126806629, LOC126806630, LOC126806631, LOC126806632, LOC126806633, LOC126806634, LOC126806635, LOC126806636, LOC126806637, LOC126806638, LOC126806639, LOC126806640, LOC126806641, LOC126806642, LOC126806643, LOC126806644, LOC126806645, LOC126806646, LOC126806647, LOC126806648, LOC126806649, LOC126806650, LOC126806651, LOC126806652, LRRC3B, LRRC3B-AS1, LRRFIP2, LSM3, METTL6, MIR128-2, MIR26A1, MIR3134, MIR3135A, MIR3714, MIR4270, MIR4442, MIR466, MIR4791, MIR4792, MIR548AY, MIR563, MKRN2, MKRN2OS, MLH1, MRPS25, MYD88, NEK10, NGLY1, NKIRAS1, NR1D2, NR2C2, NUP210, OSBPL10, OSBPL10-AS1, OXNAD1, OXSM, OXSR1, PDCD6IP, PDCD6IP-DT, PLCD1, PLCL2, PLCL2-AS1, PP2D1, PPARG, RAB5A, RAF1, RARB, RARB-AS1, RBMS3, RBMS3-AS1, RBMS3-AS2, RBMS3-AS3, RBSN, RFTN1, RPL15, RPL32, SATB1, SATB1-AS1, SCN10A, SCN11A, SCN5A, SGO1, SGO1-AS1, SH3BP5, SH3BP5-AS1, SLC22A13, SLC22A14, SLC4A7, SLC6A6, SNORA7A, SNORA93, STAC, STT3B, SUSD5, SYN2, TAMM41, TBC1D5, TGFBR2, THRB, THRB-AS1, THRB-AS2, TIMP4, TMEM40, TMEM43, TMPPE, TOP2B, TRANK1, TRIM71, TSEN2, UBE2E1, UBE2E1-AS1, UBE2E2, UBE2E2-DT, UBP1, VGLL4, VILL, WNT7A, XPC, XYLB, ZCWPW2, ZNF385D, ZNF385D-AS1, ZNF385D-AS2, ZNF860		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 11672404.	NC_000003.11:g.30647160A>G GRCh37: Chr3:30647160 GRCh38: Chr3:30605668	TGFBR2		Familial thoracic aortic aneurysm and aortic dissection	Benign (Nov 4, 2022)	criteria provided, single submitter
Select item 11917705.	Single allele GRCh37: Chr3:30647717 GRCh38: Chr3:30606225	TGFBR2		not provided	Likely benign (Jun 26, 2018)	criteria provided, single submitter
Select item 9013316.	NM_001407129.1(TGFBR2):c.-109C>T GRCh37: Chr3:30647988 GRCh38: Chr3:30606496	TGFBR2		Loeys-Dietz syndrome 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 3446467.	NM_003242.5(TGFBR2):c.-371A>C GRCh37: Chr3:30648005 GRCh38: Chr3:30606513	TGFBR2		Loeys-Dietz syndrome, Loeys-Dietz syndrome 2, Malignant tumor of esophagus, Loeys-Dietz syndrome 2, Colorectal cancer, hereditary nonpolyposis, type 6, Marfan syndrome	Uncertain significance (Sep 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 3446478.	NM_003242.5(TGFBR2):c.-344C>A GRCh37: Chr3:30648032 GRCh38: Chr3:30606540	TGFBR2		Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 10014109.	NM_003242.6(TGFBR2):c.-337T>A GRCh37: Chr3:30648039 GRCh38: Chr3:30606547	TGFBR2		Familial thoracic aortic aneurysm and aortic dissection, Malignant tumor of esophagus, Colorectal cancer, hereditary nonpolyposis, type 6, Loeys-Dietz syndrome 2	Uncertain significance (Oct 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 132943410.	NM_001407129.1(TGFBR2):c.-33_-12+36del GRCh37: Chr3:30648060-30648117 GRCh38: Chr3:30606568-30606625	TGFBR2		Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Oct 25, 2019)	criteria provided, single submitter
Select item 244285411.	NM_001407129.1(TGFBR2):c.-36_-12+268del GRCh37: Chr3:30648061-30648353 GRCh38: Chr3:30606569-30606861	TGFBR2		Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Apr 14, 2022)	criteria provided, single submitter
Select item 34464812.	NM_003242.5(TGFBR2):c.-307C>T GRCh37: Chr3:30648069 GRCh38: Chr3:30606577	TGFBR2		Loeys-Dietz syndrome, Malignant tumor of esophagus, Loeys-Dietz syndrome 2, Colorectal cancer, hereditary nonpolyposis, type 6, Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome	Uncertain significance (Aug 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 34464913.	NM_003242.5(TGFBR2):c.-302A>G GRCh37: Chr3:30648074 GRCh38: Chr3:30606582	TGFBR2		Loeys-Dietz syndrome, Marfan syndrome, not provided, Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Jun 26, 2018)	criteria provided, multiple submitters, no conflicts
Select item 34465014.	NM_003242.6(TGFBR2):c.-249T>G GRCh37: Chr3:30648127 GRCh38: Chr3:30606635	TGFBR2		Marfan syndrome, Loeys-Dietz syndrome 2, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34465115.	NM_003242.6(TGFBR2):c.-228C>A GRCh37: Chr3:30648148 GRCh38: Chr3:30606656	TGFBR2		Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 90187216.	NM_003242.6(TGFBR2):c.-195G>A GRCh37: Chr3:30648181 GRCh38: Chr3:30606689	TGFBR2		Loeys-Dietz syndrome 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34465217.	NM_003242.6(TGFBR2):c.-193G>A GRCh37: Chr3:30648183 GRCh38: Chr3:30606691	TGFBR2		Malignant tumor of esophagus, Loeys-Dietz syndrome 2, Colorectal cancer, hereditary nonpolyposis, type 6, Loeys-Dietz syndrome, Marfan syndrome, Loeys-Dietz syndrome 2	Uncertain significance (Aug 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 34465318.	NM_003242.6(TGFBR2):c.-128C>G GRCh37: Chr3:30648248 GRCh38: Chr3:30606756	TGFBR2		not provided, Loeys-Dietz syndrome 2, Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection	Benign (Jun 14, 2018)	criteria provided, multiple submitters, no conflicts
Select item 90187319.	NM_003242.6(TGFBR2):c.-122T>G GRCh37: Chr3:30648254 GRCh38: Chr3:30606762	TGFBR2		Loeys-Dietz syndrome 2	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34465420.	NM_003242.6(TGFBR2):c.-117G>A GRCh37: Chr3:30648259 GRCh38: Chr3:30606767	TGFBR2		Loeys-Dietz syndrome, Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 101249321.	NM_003242.6(TGFBR2):c.-59C>G GRCh37: Chr3:30648317 GRCh38: Chr3:30606825	TGFBR2		not provided	Uncertain significance (Dec 1, 2020)	criteria provided, single submitter
Select item 51289722.	NM_003242.6(TGFBR2):c.-31G>A GRCh37: Chr3:30648345 GRCh38: Chr3:30606853	TGFBR2		not specified	Likely benign (Oct 26, 2017)	criteria provided, single submitter
Select item 48935123.	NM_003242.6(TGFBR2):c.-27G>C GRCh37: Chr3:30648349 GRCh38: Chr3:30606857	TGFBR2		not provided	Uncertain significance (Jan 17, 2018)	criteria provided, single submitter
Select item 90187424.	NM_003242.6(TGFBR2):c.-26G>A GRCh37: Chr3:30648350 GRCh38: Chr3:30606858	TGFBR2		Loeys-Dietz syndrome 2	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34465525.	NM_003242.6(TGFBR2):c.-18C>A GRCh37: Chr3:30648358 GRCh38: Chr3:30606866	TGFBR2		Loeys-Dietz syndrome 2, Loeys-Dietz syndrome, Marfan syndrome	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91570726.	NM_003242.6(TGFBR2):c.-13A>C GRCh37: Chr3:30648363 GRCh38: Chr3:30606871	TGFBR2		Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Mar 15, 2018)	criteria provided, single submitter
Select item 92840127.	NM_003242.6(TGFBR2):c.-9G>T GRCh37: Chr3:30648367 GRCh38: Chr3:30606875	TGFBR2		Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Jul 28, 2019)	criteria provided, single submitter
Select item 17782828.	NM_003242.6(TGFBR2):c.-8G>A GRCh37: Chr3:30648368 GRCh38: Chr3:30606876	TGFBR2		not specified	Uncertain significance (Feb 24, 2012)	criteria provided, single submitter
Select item 92074729.	NM_003242.6(TGFBR2):c.1A>G (p.Met1Val) GRCh37: Chr3:30648376 GRCh38: Chr3:30606884	TGFBR2	M1V	Malignant tumor of esophagus, Colorectal cancer, hereditary nonpolyposis, type 6, Loeys-Dietz syndrome 2, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Nov 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 201300230.	NM_003242.6(TGFBR2):c.4G>A (p.Gly2Ser) GRCh37: Chr3:30648379 GRCh38: Chr3:30606887	TGFBR2	G2S	Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Sep 14, 2022)	criteria provided, single submitter
Select item 23953131.	NM_003242.6(TGFBR2):c.4G>T (p.Gly2Cys) GRCh37: Chr3:30648379 GRCh38: Chr3:30606887	TGFBR2	G2C	not specified, not provided, Familial thoracic aortic aneurysm and aortic dissection	Conflicting interpretations of pathogenicity (Oct 19, 2022)	criteria provided, conflicting interpretations
Select item 61842932.	NM_003242.6(TGFBR2):c.6T>C (p.Gly2_Arg3=) GRCh37: Chr3:30648381 GRCh38: Chr3:30606889	TGFBR2		Familial thoracic aortic aneurysm and aortic dissection, not provided	Likely benign (Aug 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 243149433.	NM_003242.6(TGFBR2):c.7C>T (p.Arg3Trp) GRCh37: Chr3:30648382 GRCh38: Chr3:30606890	TGFBR2	R3W	Loeys-Dietz syndrome 2	Uncertain significance (Nov 25, 2022)	criteria provided, single submitter
Select item 92224334.	NM_003242.6(TGFBR2):c.8G>A (p.Arg3Gln) GRCh37: Chr3:30648383 GRCh38: Chr3:30606891	TGFBR2	R3Q	Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Oct 1, 2019)	criteria provided, single submitter
Select item 62874935.	NM_003242.6(TGFBR2):c.9G>A (p.Arg3_Gly4=) GRCh37: Chr3:30648384 GRCh38: Chr3:30606892	TGFBR2		Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Jun 25, 2018)	criteria provided, single submitter
Select item 176937036.	NM_003242.6(TGFBR2):c.12G>A (p.Gly4_Leu5=) GRCh37: Chr3:30648387 GRCh38: Chr3:30606895	TGFBR2		Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Jan 21, 2021)	criteria provided, single submitter
Select item 56644637.	NM_003242.6(TGFBR2):c.15_25dup (p.Leu9fs) GRCh37: Chr3:30648389-30648390 GRCh38: Chr3:30606897-30606898	TGFBR2	L9fs	Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Oct 3, 2022)	criteria provided, single submitter
Select item 177615738.	NM_003242.6(TGFBR2):c.15G>T (p.Leu5_Leu6=) GRCh37: Chr3:30648390 GRCh38: Chr3:30606898	TGFBR2		Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Mar 4, 2021)	criteria provided, single submitter
Select item 198378839.	NM_003242.6(TGFBR2):c.16C>T (p.Leu6Phe) GRCh37: Chr3:30648391 GRCh38: Chr3:30606899	TGFBR2	L6F	Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Jul 17, 2022)	criteria provided, single submitter
Select item 193950240.	NM_003242.6(TGFBR2):c.31C>T (p.Pro11Ser) GRCh37: Chr3:30648406 GRCh38: Chr3:30606914	TGFBR2	P11S	Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 80944041.	NM_003242.6(TGFBR2):c.33G>T (p.Pro11_Leu12=) GRCh37: Chr3:30648408 GRCh38: Chr3:30606916	TGFBR2		not provided, Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Jun 10, 2020)	criteria provided, multiple submitters, no conflicts
Select item 200889942.	NM_003242.6(TGFBR2):c.42C>A (p.Ile14_Val15=) GRCh37: Chr3:30648417 GRCh38: Chr3:30606925	TGFBR2		Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 131069743.	NM_003242.6(TGFBR2):c.42C>G (p.Ile14Met) GRCh37: Chr3:30648417 GRCh38: Chr3:30606925	TGFBR2	I14M	not provided	Uncertain significance (Dec 10, 2019)	criteria provided, single submitter
Select item 92318944.	NM_003242.6(TGFBR2):c.43G>A (p.Val15Ile) GRCh37: Chr3:30648418 GRCh38: Chr3:30606926	TGFBR2	V15I	Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Apr 28, 2021)	criteria provided, single submitter
Select item 62971545.	NM_003242.6(TGFBR2):c.43G>T (p.Val15Phe) GRCh37: Chr3:30648418 GRCh38: Chr3:30606926	TGFBR2	V15F	Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Sep 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 113313546.	NM_003242.6(TGFBR2):c.54G>C (p.Thr18_Arg19=) GRCh37: Chr3:30648429 GRCh38: Chr3:30606937	TGFBR2		Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 92713747.	NM_003242.6(TGFBR2):c.54G>A (p.Thr18_Arg19=) GRCh37: Chr3:30648429 GRCh38: Chr3:30606937	TGFBR2		Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Jun 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 130329248.	NM_003242.6(TGFBR2):c.56G>T (p.Arg19Leu) GRCh37: Chr3:30648431 GRCh38: Chr3:30606939	TGFBR2	R19L	not provided	Uncertain significance (Sep 19, 2019)	criteria provided, single submitter
Select item 92179449.	NM_003242.6(TGFBR2):c.56G>A (p.Arg19His) GRCh37: Chr3:30648431 GRCh38: Chr3:30606939	TGFBR2	R19H	Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Feb 7, 2020)	criteria provided, single submitter
Select item 92071750.	NM_003242.6(TGFBR2):c.58A>G (p.Ile20Val) GRCh37: Chr3:30648433 GRCh38: Chr3:30606941	TGFBR2	I20V	Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Nov 28, 2018)	criteria provided, single submitter
Select item 92497451.	NM_003242.6(TGFBR2):c.64A>T (p.Ser22Cys) GRCh37: Chr3:30648439 GRCh38: Chr3:30606947	TGFBR2	S22C	Familial thoracic aortic aneurysm and aortic dissection, not provided	Uncertain significance (Apr 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 219906652.	NM_003242.6(TGFBR2):c.69G>C (p.Thr23_Ile24=) GRCh37: Chr3:30648444 GRCh38: Chr3:30606952	TGFBR2		Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Feb 28, 2022)	criteria provided, single submitter
Select item 23953353.	NM_003242.6(TGFBR2):c.69G>T (p.Thr23_Ile24=) GRCh37: Chr3:30648444 GRCh38: Chr3:30606952	TGFBR2		not provided, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2	Conflicting interpretations of pathogenicity (Sep 14, 2022)	criteria provided, conflicting interpretations
Select item 131543454.	NM_003242.6(TGFBR2):c.70A>T (p.Ile24Phe) GRCh37: Chr3:30648445 GRCh38: Chr3:30606953	TGFBR2	I24F	not provided	Uncertain significance (Feb 10, 2020)	criteria provided, single submitter
Select item 54390855.	NM_003242.6(TGFBR2):c.75A>G (p.Pro25_Pro26=) GRCh37: Chr3:30648450 GRCh38: Chr3:30606958	TGFBR2		Familial thoracic aortic aneurysm and aortic dissection, not specified, not provided	Benign/Likely benign (Mar 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85870556.	NM_003242.6(TGFBR2):c.76C>T (p.Pro26Ser) GRCh37: Chr3:30648451 GRCh38: Chr3:30606959	TGFBR2	P26S	Colorectal cancer, hereditary nonpolyposis, type 6, Malignant tumor of esophagus, Loeys-Dietz syndrome 2, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Dec 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 196403057.	NM_003242.6(TGFBR2):c.78G>T (p.Pro26_His27=) GRCh37: Chr3:30648453 GRCh38: Chr3:30606961	TGFBR2		Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 144701258.	NM_003242.6(TGFBR2):c.78_79delinsAA (p.His27Asn) GRCh37: Chr3:30648453-30648454 GRCh38: Chr3:30606961-30606962	TGFBR2	H27N	Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 73194659.	NM_003242.6(TGFBR2):c.78G>A (p.Pro26_His27=) GRCh37: Chr3:30648453 GRCh38: Chr3:30606961	TGFBR2		Familial thoracic aortic aneurysm and aortic dissection, not specified	Likely benign (Feb 5, 2023)	criteria provided, multiple submitters, no conflicts
Select item 38109860.	NM_003242.6(TGFBR2):c.81C>T (p.His27_Val28=) GRCh37: Chr3:30648456 GRCh38: Chr3:30606964	TGFBR2		Familial thoracic aortic aneurysm and aortic dissection, not specified	Likely benign (Jun 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 162202361.	NM_003242.6(TGFBR2):c.87G>A (p.Gln29_Lys30=) GRCh37: Chr3:30648462 GRCh38: Chr3:30606970	TGFBR2		Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Nov 25, 2021)	criteria provided, single submitter
Select item 144436662.	NM_003242.6(TGFBR2):c.91T>G (p.Ser31Ala) GRCh37: Chr3:30648466 GRCh38: Chr3:30606974	TGFBR2	S31A	Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Jan 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 135528063.	NM_003242.6(TGFBR2):c.94G>T (p.Val32Phe) GRCh37: Chr3:30648469 GRCh38: Chr3:30606977	TGFBR2	D32Y, V32F, E32*	Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 91899864.	NM_003242.6(TGFBR2):c.94+6T>G GRCh37: Chr3:30648475 GRCh38: Chr3:30606983	TGFBR2		Familial thoracic aortic aneurysm and aortic dissection, not provided	Uncertain significance (Apr 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 171156865.	NM_003242.6(TGFBR2):c.94+7G>C GRCh37: Chr3:30648476 GRCh38: Chr3:30606984	TGFBR2		not provided	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 132679966.	NM_003242.6(TGFBR2):c.94+40G>T GRCh37: Chr3:30648509 GRCh38: Chr3:30607017	TGFBR2		not provided	Likely benign (May 23, 2021)	criteria provided, single submitter
Select item 124709067.	NM_003242.6(TGFBR2):c.94+15937GAAAAA[2] GRCh37: Chr3:30664406-30664411 GRCh38: Chr3:30622914-30622919	TGFBR2		not provided	Benign (Aug 15, 2019)	criteria provided, single submitter
Select item 6005468.	GRCh38/hg38 3p24.1(chr3:30623003-30666517)x1 GRCh37: Chr3:30664495-30708009 GRCh38: Chr3:30623003-30666517	TGFBR2		See cases	Uncertain significance (Aug 12, 2011)	criteria provided, single submitter
Select item 5772569.	GRCh38/hg38 3p24.1(chr3:30623003-30656356)x3 GRCh37: Chr3:30664495-30697848 GRCh38: Chr3:30623003-30656356	TGFBR2		See cases	Uncertain significance (Aug 12, 2011)	criteria provided, single submitter
Select item 37872670.	NM_003242.6(TGFBR2):c.94+16202A>G GRCh37: Chr3:30664671 GRCh38: Chr3:30623179	TGFBR2		not specified, not provided	Benign/Likely benign (Jan 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 70262071.	NM_003242.6(TGFBR2):c.94+16236G>A GRCh37: Chr3:30664705 GRCh38: Chr3:30623213	TGFBR2	A37T, A21T	Familial thoracic aortic aneurysm and aortic dissection, not provided	Likely benign (Mar 28, 2018)	criteria provided, single submitter
Select item 4368972.	NM_003242.6(TGFBR2):c.94+16238C>T GRCh37: Chr3:30664707 GRCh38: Chr3:30623215	TGFBR2		Loeys-Dietz syndrome 2, Malignant tumor of esophagus, Colorectal cancer, hereditary nonpolyposis, type 6, not specified, Familial thoracic aortic aneurysm and aortic dissection	Benign/Likely benign (Aug 9, 2021)	criteria provided, multiple submitters, no conflicts
Select item 37872773.	NM_003242.6(TGFBR2):c.94+16245G>A GRCh37: Chr3:30664714 GRCh38: Chr3:30623222	TGFBR2	D40N, D24N	not specified, not provided, Familial thoracic aortic aneurysm and aortic dissection	Benign/Likely benign (Apr 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 62773874.	NM_003242.6(TGFBR2):c.94+16256C>T GRCh37: Chr3:30664725 GRCh38: Chr3:30623233	TGFBR2		not provided, Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Aug 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 131515775.	NM_003242.6(TGFBR2):c.94+16260C>A GRCh37: Chr3:30664729 GRCh38: Chr3:30623237	TGFBR2	P45T, P29T	not provided	Uncertain significance (Jan 27, 2020)	criteria provided, single submitter
Select item 130379976.	NM_003242.6(TGFBR2):c.94+16260C>T GRCh37: Chr3:30664729 GRCh38: Chr3:30623237	TGFBR2	P45S, P29S	not provided	Uncertain significance (Dec 28, 2020)	criteria provided, single submitter
Select item 21391177.	NM_003242.6(TGFBR2):c.94+16260C>G GRCh37: Chr3:30664729 GRCh38: Chr3:30623237	TGFBR2	P45A, P29A	not provided	Uncertain significance (Mar 30, 2014)	criteria provided, single submitter
Select item 21391278.	NM_003242.6(TGFBR2):c.94+16263A>C GRCh37: Chr3:30664732 GRCh38: Chr3:30623240	TGFBR2	S46R, S30R	Familial thoracic aortic aneurysm and aortic dissection, not provided	Likely benign (Jun 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 39245779.	NM_003242.6(TGFBR2):c.94+16273G>A GRCh37: Chr3:30664742 GRCh38: Chr3:30623250	TGFBR2	R49K, R33K	not provided	Uncertain significance (Nov 13, 2017)	criteria provided, single submitter
Select item 41497480.	NM_003242.6(TGFBR2):c.94+16278G>C GRCh37: Chr3:30664747 GRCh38: Chr3:30623255	TGFBR2	A51P, A35P	Familial thoracic aortic aneurysm and aortic dissection, not provided	Conflicting interpretations of pathogenicity (May 10, 2019)	criteria provided, conflicting interpretations
Select item 21391381.	NM_003242.6(TGFBR2):c.94+16293C>A GRCh37: Chr3:30664762 GRCh38: Chr3:30623270	TGFBR2	H56N, H40N	Malignant tumor of esophagus, Loeys-Dietz syndrome 2, Colorectal cancer, hereditary nonpolyposis, type 6, not provided, Familial thoracic aortic aneurysm and aortic dissection	Conflicting interpretations of pathogenicity (Oct 19, 2022)	criteria provided, conflicting interpretations
Select item 165983782.	NM_003242.6(TGFBR2):c.94+16299A>C GRCh37: Chr3:30664768 GRCh38: Chr3:30623276	TGFBR2		Familial thoracic aortic aneurysm and aortic dissection	Benign (Oct 17, 2021)	criteria provided, single submitter
Select item 39075083.	NM_003242.6(TGFBR2):c.94+16308T>C GRCh37: Chr3:30664777 GRCh38: Chr3:30623285	TGFBR2		not specified	Likely benign (Jan 25, 2018)	criteria provided, single submitter
Select item 6005584.	GRCh38/hg38 3p24.1(chr3:30628928-30656356)x1 GRCh37: Chr3:30670420-30697848 GRCh38: Chr3:30628928-30656356	TGFBR2		See cases	Uncertain significance (Aug 12, 2011)	criteria provided, single submitter
Select item 14484985.	GRCh38/hg38 3p24.1(chr3:30634639-30638613)x1 GRCh37: Chr3:30676131-30680105 GRCh38: Chr3:30634639-30638613	TGFBR2		See cases	Benign (Nov 30, 2010)	no assertion criteria provided
Select item 14833086.	GRCh38/hg38 3p24.1(chr3:30638613-30754170)x3 GRCh37: Chr3:30680105-30795662 GRCh38: Chr3:30638613-30754170	GADL1, TGFBR2		See cases	Uncertain significance (Apr 14, 2011)	no assertion criteria provided
Select item 6005687.	GRCh38/hg38 3p24.1(chr3:30638613-30656356)x1 GRCh37: Chr3:30680105-30697848 GRCh38: Chr3:30638613-30656356	TGFBR2		See cases	Uncertain significance (Aug 12, 2011)	criteria provided, single submitter
Select item 169650788.	NM_003242.6(TGFBR2):c.95-3679C>A GRCh37: Chr3:30682560 GRCh38: Chr3:30641068	TGFBR2		Loeys-Dietz syndrome 2	Uncertain significance (Jul 23, 2021)	criteria provided, single submitter
Select item 22578089.	NM_003242.6(TGFBR2):c.95-3300G>C GRCh37: Chr3:30682939 GRCh38: Chr3:30641447	TGFBR2		Familial thoracic aortic aneurysm and aortic dissection, not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 127336890.	NM_003242.6(TGFBR2):c.95-3292T>C GRCh37: Chr3:30682947 GRCh38: Chr3:30641455	TGFBR2		not provided	Benign (Jun 14, 2019)	criteria provided, single submitter
Select item 125159291.	NM_003242.6(TGFBR2):c.95-3262G>A GRCh37: Chr3:30682977 GRCh38: Chr3:30641485	TGFBR2		not provided	Benign (Jun 14, 2019)	criteria provided, single submitter
Select item 122828292.	NM_003242.6(TGFBR2):c.95-3205C>G GRCh37: Chr3:30683034 GRCh38: Chr3:30641542	TGFBR2		not provided	Benign (Jun 14, 2019)	criteria provided, single submitter
Select item 123870493.	NM_003242.6(TGFBR2):c.95-3057C>G GRCh37: Chr3:30683182 GRCh38: Chr3:30641690	TGFBR2		not provided	Benign (Jun 21, 2019)	criteria provided, single submitter
Select item 122325194.	NM_003242.6(TGFBR2):c.95-3038A>G GRCh37: Chr3:30683201 GRCh38: Chr3:30641709	TGFBR2		not provided	Benign (Jun 14, 2019)	criteria provided, single submitter
Select item 127411395.	NM_003242.6(TGFBR2):c.95-1556G>A GRCh37: Chr3:30684683 GRCh38: Chr3:30643191	TGFBR2		not provided	Benign (Jun 14, 2019)	criteria provided, single submitter
Select item 116492396.	NM_003242.6(TGFBR2):c.95-1332C>T GRCh37: Chr3:30684907 GRCh38: Chr3:30643415	TGFBR2		not provided, Familial thoracic aortic aneurysm and aortic dissection	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 39119197.	NM_003242.6(TGFBR2):c.95-20A>G GRCh37: Chr3:30686219 GRCh38: Chr3:30644727	TGFBR2		not specified, Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Oct 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 216609098.	NM_003242.6(TGFBR2):c.95-18A>T GRCh37: Chr3:30686221 GRCh38: Chr3:30644729	TGFBR2		Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Dec 22, 2021)	criteria provided, single submitter
Select item 157208699.	NM_003242.6(TGFBR2):c.95-12C>G GRCh37: Chr3:30686227 GRCh38: Chr3:30644735	TGFBR2		Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Jul 15, 2021)	criteria provided, single submitter
Select item 2071522100.	NM_003242.6(TGFBR2):c.95-11T>C GRCh37: Chr3:30686228 GRCh38: Chr3:30644736	TGFBR2		Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Jun 14, 2022)	criteria provided, single submitter

<< First< Prev

Page of 10