ClinVar for MedGen (Select 395827) - ClinVar - NCBI

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

Result Filters

Links from MedGen

Items: 1 to 100 of 365

<< First< Prev

Page of 4

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 16877221.	NM_003242.6(TGFBR2):c.1301T>A (p.Met434Lys) GRCh37: Chr3:30715643 GRCh38: Chr3:30674151	TGFBR2	M434K, M459K, M339K, M443K, M399K, M470K, M314K, M435K, M495K	Loeys-Dietz syndrome	Pathogenic (Aug 6, 2021)	no assertion criteria provided
Select item 11728602.	NM_005902.4(SMAD3):c.532+1G>C GRCh37: Chr15:67457723 GRCh38: Chr15:67165385	SMAD3		Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome	Likely pathogenic (Aug 12, 2021)	criteria provided, multiple submitters, no conflicts
Select item 6674253.	NM_005902.4(SMAD3):c.206+1G>C GRCh37: Chr15:67358699 GRCh38: Chr15:67066361	SMAD3		Loeys-Dietz syndrome	Likely pathogenic (Mar 16, 2018)	criteria provided, single submitter
Select item 4928464.	NM_004612.4(TGFBR1):c.1058G>T (p.Gly353Val) GRCh37: Chr9:101907098 GRCh38: Chr9:99144816	TGFBR1	G353V, G357V, G276V	Loeys-Dietz syndrome	Pathogenic (Feb 15, 2017)	no assertion criteria provided
Select item 4928375.	NM_000093.5(COL5A1):c.4748C>T (p.Thr1583Met) GRCh37: Chr9:137716495 GRCh38: Chr9:134824649	COL5A1, LOC101448202	T1583M	Ehlers-Danlos syndrome, classic type, Ehlers-Danlos syndrome, classic type, 1, not provided	Conflicting interpretations of pathogenicity (Oct 13, 2022)	criteria provided, conflicting interpretations
Select item 4928326.	NM_001999.4(FBN2):c.2392G>A (p.Gly798Ser) GRCh37: Chr5:127700329 GRCh38: Chr5:128364636	FBN2	G798S	Loeys-Dietz syndrome, Aortic aneurysm, familial thoracic 2	Uncertain significance (Jul 15, 2016)	no assertion criteria provided
Select item 4775467.	NM_003242.6(TGFBR2):c.383del (p.Lys128fs) GRCh37: Chr3:30691872 GRCh38: Chr3:30650380	TGFBR2	K153fs, K128fs	not specified, Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection	Conflicting interpretations of pathogenicity (Nov 14, 2021)	criteria provided, conflicting interpretations
Select item 3749808.	NM_003242.6(TGFBR2):c.1015C>T (p.Arg339Trp) GRCh37: Chr3:30713690 GRCh38: Chr3:30672198	TGFBR2	R364W, R339W, R304W, R348W, R375W, R340W, R400W, R219W, R244W	Malignant tumor of esophagus, Colorectal cancer, hereditary nonpolyposis, type 6, Loeys-Dietz syndrome 2, not specified, Familial thoracic aortic aneurysm and aortic dissection, not provided	Conflicting interpretations of pathogenicity (Mar 6, 2023)	criteria provided, conflicting interpretations
Select item 3690979.	NM_005902.3(SMAD3):c.*4658T>C GRCh37: Chr15:67487535 GRCh38: Chr15:67195197	SMAD3		Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 36419410.	NM_004612.4(TGFBR1):c.*4809A>T GRCh37: Chr9:101916396 GRCh38: Chr9:99154114	TGFBR1		Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 36419311.	NM_004612.4(TGFBR1):c.*4793A>G GRCh37: Chr9:101916380 GRCh38: Chr9:99154098	TGFBR1		Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36419212.	NM_004612.4(TGFBR1):c.*4804dup GRCh37: Chr9:101916380-101916381 GRCh38: Chr9:99154098-99154099	TGFBR1		not provided, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1, Loeys-Dietz syndrome	Conflicting interpretations of pathogenicity (Oct 19, 2021)	criteria provided, conflicting interpretations
Select item 36419113.	NM_004612.4(TGFBR1):c.*4728G>A GRCh37: Chr9:101916315 GRCh38: Chr9:99154033	TGFBR1		Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1, Loeys-Dietz syndrome	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 36419014.	NM_004612.4(TGFBR1):c.*4623G>C GRCh37: Chr9:101916210 GRCh38: Chr9:99153928	TGFBR1		not provided, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1, Loeys-Dietz syndrome	Conflicting interpretations of pathogenicity (Dec 1, 2022)	criteria provided, conflicting interpretations
Select item 36418915.	NM_004612.4(TGFBR1):c.*4578T>G GRCh37: Chr9:101916165 GRCh38: Chr9:99153883	TGFBR1		not provided, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1, Loeys-Dietz syndrome	Benign (Feb 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 36418816.	NM_004612.4(TGFBR1):c.*4565T>C GRCh37: Chr9:101916152 GRCh38: Chr9:99153870	TGFBR1		Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1, Loeys-Dietz syndrome	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 36418717.	NM_004612.4(TGFBR1):c.*4499G>A GRCh37: Chr9:101916086 GRCh38: Chr9:99153804	TGFBR1		not provided, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1, Loeys-Dietz syndrome	Likely benign (May 19, 2021)	criteria provided, multiple submitters, no conflicts
Select item 36418618.	NM_004612.4(TGFBR1):c.*4493G>A GRCh37: Chr9:101916080 GRCh38: Chr9:99153798	TGFBR1		Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1, Loeys-Dietz syndrome	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 36418519.	NM_004612.4(TGFBR1):c.*4489T>C GRCh37: Chr9:101916076 GRCh38: Chr9:99153794	TGFBR1		not provided, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1, Loeys-Dietz syndrome	Benign (May 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 36418420.	NM_004612.4(TGFBR1):c.*4467C>A GRCh37: Chr9:101916054 GRCh38: Chr9:99153772	TGFBR1		Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1, Loeys-Dietz syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36418321.	NM_004612.4(TGFBR1):c.*4356A>G GRCh37: Chr9:101915943 GRCh38: Chr9:99153661	TGFBR1		Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1, Loeys-Dietz syndrome	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 36418222.	NM_004612.4(TGFBR1):c.*4300C>T GRCh37: Chr9:101915887 GRCh38: Chr9:99153605	TGFBR1		not provided, Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1	Likely benign (May 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 36418123.	NM_004612.4(TGFBR1):c.*4202A>G GRCh37: Chr9:101915789 GRCh38: Chr9:99153507	TGFBR1		Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1, Loeys-Dietz syndrome	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 36418024.	NM_004612.4(TGFBR1):c.*4147G>A GRCh37: Chr9:101915734 GRCh38: Chr9:99153452	TGFBR1		Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36417925.	NM_004612.4(TGFBR1):c.*4088G>T GRCh37: Chr9:101915675 GRCh38: Chr9:99153393	TGFBR1		Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36417826.	NM_004612.4(TGFBR1):c.*4055G>T GRCh37: Chr9:101915642 GRCh38: Chr9:99153360	TGFBR1		Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36417727.	NM_004612.4(TGFBR1):c.*3881G>T GRCh37: Chr9:101915468 GRCh38: Chr9:99153186	TGFBR1		Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36417628.	NM_004612.4(TGFBR1):c.*3830T>C GRCh37: Chr9:101915417 GRCh38: Chr9:99153135	TGFBR1		Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 36417529.	NM_004612.4(TGFBR1):c.*3798G>A GRCh37: Chr9:101915385 GRCh38: Chr9:99153103	TGFBR1		Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 36417430.	NM_004612.4(TGFBR1):c.*3790C>T GRCh37: Chr9:101915377 GRCh38: Chr9:99153095	TGFBR1		Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36417331.	NM_004612.4(TGFBR1):c.*3716T>C GRCh37: Chr9:101915303 GRCh38: Chr9:99153021	TGFBR1		Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36417232.	NM_004612.4(TGFBR1):c.*3704A>G GRCh37: Chr9:101915291 GRCh38: Chr9:99153009	TGFBR1		Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 36417133.	NM_004612.4(TGFBR1):c.*3567G>A GRCh37: Chr9:101915154 GRCh38: Chr9:99152872	TGFBR1		Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36417034.	NM_004612.4(TGFBR1):c.*3482C>G GRCh37: Chr9:101915069 GRCh38: Chr9:99152787	TGFBR1		Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36416935.	NM_004612.4(TGFBR1):c.*3432G>T GRCh37: Chr9:101915019 GRCh38: Chr9:99152737	TGFBR1		Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome, Loeys-Dietz syndrome 1	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36416836.	NM_004612.4(TGFBR1):c.*3430del GRCh37: Chr9:101915016 GRCh38: Chr9:99152734	TGFBR1		Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome, Loeys-Dietz syndrome 1	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 36416737.	NM_004612.4(TGFBR1):c.*3382T>G GRCh37: Chr9:101914969 GRCh38: Chr9:99152687	TGFBR1		Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36416638.	NM_004612.4(TGFBR1):c.*3317C>G GRCh37: Chr9:101914904 GRCh38: Chr9:99152622	TGFBR1		Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36416539.	NM_004612.4(TGFBR1):c.*3314A>G GRCh37: Chr9:101914901 GRCh38: Chr9:99152619	TGFBR1		Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 36416440.	NM_004612.4(TGFBR1):c.*3286G>C GRCh37: Chr9:101914873 GRCh38: Chr9:99152591	TGFBR1		Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 36416341.	NM_004612.4(TGFBR1):c.*3262C>T GRCh37: Chr9:101914849 GRCh38: Chr9:99152567	TGFBR1		Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 36416242.	NM_004612.4(TGFBR1):c.*3261T>C GRCh37: Chr9:101914848 GRCh38: Chr9:99152566	TGFBR1		Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 36416143.	NM_004612.4(TGFBR1):c.*3225G>A GRCh37: Chr9:101914812 GRCh38: Chr9:99152530	TGFBR1		Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome, Loeys-Dietz syndrome 1	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 36416044.	NM_004612.4(TGFBR1):c.*3192T>C GRCh37: Chr9:101914779 GRCh38: Chr9:99152497	TGFBR1		Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome, Loeys-Dietz syndrome 1	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 36415945.	NM_004612.4(TGFBR1):c.*3056C>A GRCh37: Chr9:101914643 GRCh38: Chr9:99152361	TGFBR1		Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome, Loeys-Dietz syndrome 1	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36415846.	NM_004612.4(TGFBR1):c.*2980G>T GRCh37: Chr9:101914567 GRCh38: Chr9:99152285	TGFBR1		Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1, Loeys-Dietz syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36415747.	NM_004612.4(TGFBR1):c.*2880C>A GRCh37: Chr9:101914467 GRCh38: Chr9:99152185	TGFBR1		Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36415648.	NM_004612.4(TGFBR1):c.*2833G>A GRCh37: Chr9:101914420 GRCh38: Chr9:99152138	TGFBR1		Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36415549.	NM_004612.4(TGFBR1):c.*2800G>A GRCh37: Chr9:101914387 GRCh38: Chr9:99152105	TGFBR1		not provided, Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection	Benign (May 16, 2021)	criteria provided, multiple submitters, no conflicts
Select item 36415450.	NM_004612.4(TGFBR1):c.*2799C>T GRCh37: Chr9:101914386 GRCh38: Chr9:99152104	TGFBR1		Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36415351.	NM_004612.4(TGFBR1):c.*2791G>A GRCh37: Chr9:101914378 GRCh38: Chr9:99152096	TGFBR1		Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36415252.	NM_004612.4(TGFBR1):c.*2768T>A GRCh37: Chr9:101914355 GRCh38: Chr9:99152073	TGFBR1		Loeys-Dietz syndrome, Loeys-Dietz syndrome 1, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36415153.	NM_004612.4(TGFBR1):c.*2713G>T GRCh37: Chr9:101914300 GRCh38: Chr9:99152018	TGFBR1		Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36415054.	NM_004612.4(TGFBR1):c.*2703G>A GRCh37: Chr9:101914290 GRCh38: Chr9:99152008	TGFBR1		not provided, Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Aug 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 36414955.	NM_004612.4(TGFBR1):c.*2685T>G GRCh37: Chr9:101914272 GRCh38: Chr9:99151990	TGFBR1		Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 36414856.	NM_004612.4(TGFBR1):c.*2645A>C GRCh37: Chr9:101914232 GRCh38: Chr9:99151950	TGFBR1		not provided, Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection	Likely benign (May 26, 2021)	criteria provided, multiple submitters, no conflicts
Select item 36414757.	NM_004612.4(TGFBR1):c.*2634TCT[1] GRCh37: Chr9:101914221-101914223 GRCh38: Chr9:99151939-99151941	TGFBR1		Loeys-Dietz syndrome, Loeys-Dietz syndrome 1, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36414658.	NM_004612.4(TGFBR1):c.*2547A>G GRCh37: Chr9:101914134 GRCh38: Chr9:99151852	TGFBR1		Loeys-Dietz syndrome, Loeys-Dietz syndrome 1, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36414559.	NM_004612.4(TGFBR1):c.*2410C>T GRCh37: Chr9:101913997 GRCh38: Chr9:99151715	TGFBR1		Loeys-Dietz syndrome, Loeys-Dietz syndrome 1, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36414460.	NM_004612.4(TGFBR1):c.*2279T>C GRCh37: Chr9:101913866 GRCh38: Chr9:99151584	TGFBR1		Loeys-Dietz syndrome, Loeys-Dietz syndrome 1, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36414361.	NM_004612.4(TGFBR1):c.*2179del GRCh37: Chr9:101913766 GRCh38: Chr9:99151484	TGFBR1		Loeys-Dietz syndrome, Loeys-Dietz syndrome 1, Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 36414262.	NM_004612.4(TGFBR1):c.*2106G>T GRCh37: Chr9:101913693 GRCh38: Chr9:99151411	TGFBR1		Loeys-Dietz syndrome 1, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome, not provided	Conflicting interpretations of pathogenicity (Sep 1, 2022)	criteria provided, conflicting interpretations
Select item 36414163.	NM_004612.4(TGFBR1):c.*2106GTT[2] GRCh37: Chr9:101913691-101913693 GRCh38: Chr9:99151409-99151411	TGFBR1		Loeys-Dietz syndrome 1, Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36414064.	NM_004612.4(TGFBR1):c.2104_2105insGT GRCh37: Chr9:101913690-101913691 GRCh38: Chr9:99151408-99151409	TGFBR1		Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36413965.	NM_004612.4(TGFBR1):c.2103_2104insG GRCh37: Chr9:101913690-101913691 GRCh38: Chr9:99151408-99151409	TGFBR1		Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1	Benign (Jun 14, 2016)	criteria provided, single submitter
Select item 36413866.	NM_004612.4(TGFBR1):c.*2103T>G GRCh37: Chr9:101913690 GRCh38: Chr9:99151408	TGFBR1		Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome, Loeys-Dietz syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 36413767.	NM_004612.4(TGFBR1):c.2101_2102insGT GRCh37: Chr9:101913687-101913688 GRCh38: Chr9:99151405-99151406	TGFBR1		Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome, Loeys-Dietz syndrome 1	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36413668.	NM_004612.4(TGFBR1):c.*2100T>G GRCh37: Chr9:101913687 GRCh38: Chr9:99151405	TGFBR1		Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome, Loeys-Dietz syndrome 1	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 36413569.	NM_004612.4(TGFBR1):c.*2095T>G GRCh37: Chr9:101913682 GRCh38: Chr9:99151400	TGFBR1		Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome, Loeys-Dietz syndrome 1	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 36413470.	NM_004612.4(TGFBR1):c.*2092G>T GRCh37: Chr9:101913679 GRCh38: Chr9:99151397	TGFBR1		Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome, Loeys-Dietz syndrome 1	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36413371.	NM_004612.4(TGFBR1):c.*2105dup GRCh37: Chr9:101913679-101913680 GRCh38: Chr9:99151397-99151398	TGFBR1		Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome, Loeys-Dietz syndrome 1	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36413272.	NM_004612.4(TGFBR1):c.*2086T>G GRCh37: Chr9:101913673 GRCh38: Chr9:99151391	TGFBR1		Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome, Loeys-Dietz syndrome 1	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 36413173.	NM_004612.4(TGFBR1):c.*2081G>T GRCh37: Chr9:101913668 GRCh38: Chr9:99151386	TGFBR1		Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome, Loeys-Dietz syndrome 1	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36413074.	NM_004612.4(TGFBR1):c.*2005T>G GRCh37: Chr9:101913592 GRCh38: Chr9:99151310	TGFBR1		Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome, Loeys-Dietz syndrome 1	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 36412975.	NM_004612.4(TGFBR1):c.*1959G>T GRCh37: Chr9:101913546 GRCh38: Chr9:99151264	TGFBR1		Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome, Loeys-Dietz syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36412876.	NM_004612.4(TGFBR1):c.*1924G>T GRCh37: Chr9:101913511 GRCh38: Chr9:99151229	TGFBR1		Loeys-Dietz syndrome 1, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36412777.	NM_004612.4(TGFBR1):c.*1804A>G GRCh37: Chr9:101913391 GRCh38: Chr9:99151109	TGFBR1		Loeys-Dietz syndrome 1, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 36412678.	NM_004612.4(TGFBR1):c.*1787T>C GRCh37: Chr9:101913374 GRCh38: Chr9:99151092	TGFBR1		Loeys-Dietz syndrome 1, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36412579.	NM_004612.4(TGFBR1):c.*1772A>C GRCh37: Chr9:101913359 GRCh38: Chr9:99151077	TGFBR1		Loeys-Dietz syndrome 1, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 36412480.	NM_004612.4(TGFBR1):c.*1710G>A GRCh37: Chr9:101913297 GRCh38: Chr9:99151015	TGFBR1		Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1, not provided, Loeys-Dietz syndrome	Benign/Likely benign (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 36412381.	NM_004612.4(TGFBR1):c.*1704G>T GRCh37: Chr9:101913291 GRCh38: Chr9:99151009	TGFBR1		Loeys-Dietz syndrome 1, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36412282.	NM_004612.4(TGFBR1):c.*1687A>G GRCh37: Chr9:101913274 GRCh38: Chr9:99150992	TGFBR1		Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1, Loeys-Dietz syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36412183.	NM_004612.4(TGFBR1):c.*1659T>C GRCh37: Chr9:101913246 GRCh38: Chr9:99150964	TGFBR1		Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 36412084.	NM_004612.4(TGFBR1):c.*1515G>A GRCh37: Chr9:101913102 GRCh38: Chr9:99150820	TGFBR1		Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 36411985.	NM_004612.4(TGFBR1):c.*1431G>T GRCh37: Chr9:101913018 GRCh38: Chr9:99150736	TGFBR1		Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1, Loeys-Dietz syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36411886.	NM_004612.4(TGFBR1):c.*1428G>C GRCh37: Chr9:101913015 GRCh38: Chr9:99150733	TGFBR1		Loeys-Dietz syndrome 1, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 36411787.	NM_004612.4(TGFBR1):c.*1368C>A GRCh37: Chr9:101912955 GRCh38: Chr9:99150673	TGFBR1		Loeys-Dietz syndrome 1, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36411688.	NM_004612.4(TGFBR1):c.*1269T>G GRCh37: Chr9:101912856 GRCh38: Chr9:99150574	TGFBR1		Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1, Loeys-Dietz syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36411589.	NM_004612.4(TGFBR1):c.*1250G>T GRCh37: Chr9:101912837 GRCh38: Chr9:99150555	TGFBR1		Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36411490.	NM_004612.4(TGFBR1):c.*1223A>G GRCh37: Chr9:101912810 GRCh38: Chr9:99150528	TGFBR1		Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36411391.	NM_004612.4(TGFBR1):c.*1183G>A GRCh37: Chr9:101912770 GRCh38: Chr9:99150488	TGFBR1		Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 36411292.	NM_004612.4(TGFBR1):c.*884A>G GRCh37: Chr9:101912471 GRCh38: Chr9:99150189	TGFBR1		Ehlers-Danlos syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 36411193.	NM_004612.4(TGFBR1):c.*789G>A GRCh37: Chr9:101912376 GRCh38: Chr9:99150094	TGFBR1		Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 36411094.	NM_004612.4(TGFBR1):c.*756C>A GRCh37: Chr9:101912343 GRCh38: Chr9:99150061	TGFBR1		Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36410995.	NM_004612.4(TGFBR1):c.*709C>T GRCh37: Chr9:101912296 GRCh38: Chr9:99150014	TGFBR1		Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36410896.	NM_004612.4(TGFBR1):c.*566T>C GRCh37: Chr9:101912153 GRCh38: Chr9:99149871	TGFBR1		Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 36410797.	NM_004612.4(TGFBR1):c.512_516del GRCh37: Chr9:101912095-101912099 GRCh38: Chr9:99149813-99149817	TGFBR1		Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 36410698.	NM_004612.4(TGFBR1):c.*360A>G GRCh37: Chr9:101911947 GRCh38: Chr9:99149665	TGFBR1		Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1	Likely benign (Jun 14, 2016)	criteria provided, single submitter
Select item 36410599.	NM_004612.4(TGFBR1):c.*311G>A GRCh37: Chr9:101911898 GRCh38: Chr9:99149616	TGFBR1		Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 364104100.	NM_004612.4(TGFBR1):c.*309C>T GRCh37: Chr9:101911896 GRCh38: Chr9:99149614	TGFBR1		Loeys-Dietz syndrome, Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter

<< First< Prev

Page of 4