ClinVar for MedGen (Select 816342) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25000991.	NM_003239.5(TGFB3):c.352+124C>G GRCh37: Chr14:76446761 GRCh38: Chr14:75980418	TGFB3		Rienhoff syndrome, Arrhythmogenic right ventricular dysplasia 1	Uncertain significance (Dec 15, 2022)	criteria provided, single submitter
Select item 24246602.	NC_000014.8:g.(?_76425530)_(76432058_?)dup GRCh37: Chr14:76425530-76432058	TGFB3		Rienhoff syndrome	Uncertain significance (Jul 31, 2022)	criteria provided, single submitter
Select item 21784403.	NM_003239.5(TGFB3):c.523C>T (p.Arg175Trp) GRCh37: Chr14:76437592 GRCh38: Chr14:75971249	TGFB3	R175W	Rienhoff syndrome	Uncertain significance (Nov 1, 2022)	criteria provided, single submitter
Select item 21610704.	NM_003239.5(TGFB3):c.864C>T (p.Leu288=) GRCh37: Chr14:76429721 GRCh38: Chr14:75963378	TGFB3		Rienhoff syndrome	Likely benign (May 8, 2022)	criteria provided, single submitter
Select item 21501655.	NM_003239.5(TGFB3):c.592G>A (p.Glu198Lys) GRCh37: Chr14:76437523 GRCh38: Chr14:75971180	TGFB3	E198K	Rienhoff syndrome	Uncertain significance (Oct 2, 2022)	criteria provided, single submitter
Select item 21494686.	NM_003239.5(TGFB3):c.50T>G (p.Phe17Cys) GRCh37: Chr14:76447187 GRCh38: Chr14:75980844	TGFB3	F17C	Rienhoff syndrome	Uncertain significance (Oct 28, 2022)	criteria provided, single submitter
Select item 21468627.	NM_003239.5(TGFB3):c.171T>G (p.Pro57=) GRCh37: Chr14:76447066 GRCh38: Chr14:75980723	TGFB3		Rienhoff syndrome	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 21437378.	NM_003239.5(TGFB3):c.352+13T>C GRCh37: Chr14:76446872 GRCh38: Chr14:75980529	TGFB3		Rienhoff syndrome	Likely benign (May 4, 2022)	criteria provided, single submitter
Select item 21419039.	NM_003239.5(TGFB3):c.644G>C (p.Arg215Thr) GRCh37: Chr14:76437471 GRCh38: Chr14:75971128	TGFB3	R215T	Rienhoff syndrome	Uncertain significance (Oct 2, 2022)	criteria provided, single submitter
Select item 213817210.	NM_003239.5(TGFB3):c.427A>T (p.Arg143Ter) GRCh37: Chr14:76437987 GRCh38: Chr14:75971644	TGFB3	R143*	Rienhoff syndrome	Pathogenic (May 12, 2022)	criteria provided, single submitter
Select item 213193011.	NM_003239.5(TGFB3):c.300C>T (p.Tyr100=) GRCh37: Chr14:76446937 GRCh38: Chr14:75980594	TGFB3		Rienhoff syndrome	Likely benign (Apr 29, 2022)	criteria provided, single submitter
Select item 212625012.	NM_003239.5(TGFB3):c.638del (p.Leu212_Leu213insTer) GRCh37: Chr14:76437477 GRCh38: Chr14:75971134	TGFB3		Rienhoff syndrome	Pathogenic (Jun 27, 2022)	criteria provided, single submitter
Select item 212484813.	NM_003239.5(TGFB3):c.162C>T (p.Thr54=) GRCh37: Chr14:76447075 GRCh38: Chr14:75980732	TGFB3		Rienhoff syndrome	Likely benign (Apr 11, 2022)	criteria provided, single submitter
Select item 212188714.	NM_003239.5(TGFB3):c.1081-10C>A GRCh37: Chr14:76425698 GRCh38: Chr14:75959355	TGFB3		Rienhoff syndrome	Likely benign (Apr 5, 2022)	criteria provided, single submitter
Select item 212057415.	NM_003239.5(TGFB3):c.927-6T>C GRCh37: Chr14:76427425 GRCh38: Chr14:75961082	TGFB3		Rienhoff syndrome	Likely benign (Apr 1, 2022)	criteria provided, single submitter
Select item 211889216.	NM_003239.5(TGFB3):c.103A>G (p.Ile35Val) GRCh37: Chr14:76447134 GRCh38: Chr14:75980791	TGFB3	I35V	Rienhoff syndrome	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 211780617.	NM_003239.5(TGFB3):c.878del (p.Gln293fs) GRCh37: Chr14:76429707 GRCh38: Chr14:75963364	TGFB3	Q293fs	Rienhoff syndrome	Pathogenic (Mar 26, 2022)	criteria provided, single submitter
Select item 211580918.	NM_003239.5(TGFB3):c.646+1G>T GRCh37: Chr14:76437468 GRCh38: Chr14:75971125	TGFB3		Rienhoff syndrome	Likely pathogenic (Jul 17, 2022)	criteria provided, single submitter
Select item 210717419.	NM_003239.5(TGFB3):c.835A>C (p.Ile279Leu) GRCh37: Chr14:76429750 GRCh38: Chr14:75963407	TGFB3	I279L	Rienhoff syndrome	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 210608720.	NM_003239.5(TGFB3):c.1081-1G>A GRCh37: Chr14:76425689 GRCh38: Chr14:75959346	TGFB3		Rienhoff syndrome	Likely pathogenic (Jul 13, 2022)	criteria provided, single submitter
Select item 210596821.	NM_003239.5(TGFB3):c.237G>T (p.Leu79=) GRCh37: Chr14:76447000 GRCh38: Chr14:75980657	TGFB3		Rienhoff syndrome	Likely benign (Mar 3, 2022)	criteria provided, single submitter
Select item 209171222.	NM_003239.5(TGFB3):c.352+10A>G GRCh37: Chr14:76446875 GRCh38: Chr14:75980532	TGFB3		Rienhoff syndrome	Likely benign (Feb 2, 2022)	criteria provided, single submitter
Select item 209016523.	NM_003239.5(TGFB3):c.735G>T (p.Val245=) GRCh37: Chr14:76431950 GRCh38: Chr14:75965607	TGFB3		Rienhoff syndrome	Likely benign (Jan 27, 2022)	criteria provided, single submitter
Select item 208492724.	NM_003239.5(TGFB3):c.912dup (p.Asn305fs) GRCh37: Chr14:76429672-76429673 GRCh38: Chr14:75963329-75963330	TGFB3	N305fs	Rienhoff syndrome	Pathogenic (Jan 16, 2022)	criteria provided, single submitter
Select item 207595925.	NM_003239.5(TGFB3):c.1125G>A (p.Ser375=) GRCh37: Chr14:76425644 GRCh38: Chr14:75959301	TGFB3		Rienhoff syndrome	Likely benign (Sep 22, 2022)	criteria provided, single submitter
Select item 207150826.	NM_003239.5(TGFB3):c.164G>C (p.Ser55Thr) GRCh37: Chr14:76447073 GRCh38: Chr14:75980730	TGFB3	S55T	Rienhoff syndrome	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 206753327.	NM_003239.5(TGFB3):c.927-15T>C GRCh37: Chr14:76427434 GRCh38: Chr14:75961091	TGFB3		Rienhoff syndrome	Likely benign (Jul 22, 2022)	criteria provided, single submitter
Select item 205500228.	NM_003239.5(TGFB3):c.1065C>T (p.Asp355=) GRCh37: Chr14:76427281 GRCh38: Chr14:75960938	TGFB3		Rienhoff syndrome	Likely benign (Feb 11, 2022)	criteria provided, single submitter
Select item 204091029.	NM_003239.5(TGFB3):c.1213GTG[1] (p.Val406del) GRCh37: Chr14:76425551-76425553 GRCh38: Chr14:75959208-75959210	TGFB3	V406del	Rienhoff syndrome	Uncertain significance (Oct 22, 2022)	criteria provided, single submitter
Select item 203787830.	NM_003239.5(TGFB3):c.517-13C>T GRCh37: Chr14:76437611 GRCh38: Chr14:75971268	TGFB3		Rienhoff syndrome	Likely benign (Oct 1, 2022)	criteria provided, single submitter
Select item 203720531.	NM_003239.5(TGFB3):c.926+19G>C GRCh37: Chr14:76429640 GRCh38: Chr14:75963297	TGFB3		Rienhoff syndrome	Likely benign (Sep 22, 2022)	criteria provided, single submitter
Select item 202903232.	NM_003239.5(TGFB3):c.95_96insA (p.Phe32fs) GRCh37: Chr14:76447141-76447142 GRCh38: Chr14:75980798-75980799	TGFB3	F32fs	Rienhoff syndrome	Pathogenic (Sep 4, 2022)	criteria provided, single submitter
Select item 202616633.	NM_003239.5(TGFB3):c.722del (p.Asn241fs) GRCh37: Chr14:76431963 GRCh38: Chr14:75965620	TGFB3	N241fs	Rienhoff syndrome	Pathogenic (Sep 24, 2022)	criteria provided, single submitter
Select item 202238434.	NM_003239.5(TGFB3):c.170_171del (p.Pro57fs) GRCh37: Chr14:76447066-76447067 GRCh38: Chr14:75980723-75980724	TGFB3	P57fs	Rienhoff syndrome	Pathogenic (Sep 21, 2022)	criteria provided, single submitter
Select item 201457635.	NM_003239.5(TGFB3):c.170del (p.Pro57fs) GRCh37: Chr14:76447067 GRCh38: Chr14:75980724	TGFB3	P57fs	Rienhoff syndrome	Pathogenic (Jul 6, 2022)	criteria provided, single submitter
Select item 201029136.	NM_003239.5(TGFB3):c.754+1G>A GRCh37: Chr14:76431930 GRCh38: Chr14:75965587	TGFB3		Rienhoff syndrome	Likely pathogenic (Jul 29, 2022)	criteria provided, single submitter
Select item 200686737.	NM_003239.5(TGFB3):c.755-14C>T GRCh37: Chr14:76429844 GRCh38: Chr14:75963501	TGFB3		Rienhoff syndrome	Likely benign (Jun 28, 2022)	criteria provided, single submitter
Select item 200523238.	NM_003239.5(TGFB3):c.185T>A (p.Met62Lys) GRCh37: Chr14:76447052 GRCh38: Chr14:75980709	TGFB3	M62K	Rienhoff syndrome	Uncertain significance (Jun 12, 2022)	criteria provided, single submitter
Select item 200511739.	NM_003239.5(TGFB3):c.646+17G>T GRCh37: Chr14:76437452 GRCh38: Chr14:75971109	TGFB3		Rienhoff syndrome	Likely benign (Jun 12, 2022)	criteria provided, single submitter
Select item 200091140.	NM_003239.5(TGFB3):c.231G>A (p.Arg77=) GRCh37: Chr14:76447006 GRCh38: Chr14:75980663	TGFB3		Rienhoff syndrome	Likely benign (May 30, 2022)	criteria provided, single submitter
Select item 199812141.	NM_003239.5(TGFB3):c.756C>A (p.Gly252=) GRCh37: Chr14:76429829 GRCh38: Chr14:75963486	TGFB3		Rienhoff syndrome	Likely benign (Sep 14, 2022)	criteria provided, single submitter
Select item 199558642.	NM_003239.5(TGFB3):c.368G>T (p.Cys123Phe) GRCh37: Chr14:76438046 GRCh38: Chr14:75971703	TGFB3	C123F	Rienhoff syndrome	Uncertain significance (May 17, 2022)	criteria provided, single submitter
Select item 198162143.	NM_003239.5(TGFB3):c.364G>C (p.Val122Leu) GRCh37: Chr14:76438050 GRCh38: Chr14:75971707	TGFB3	V122L	Rienhoff syndrome	Uncertain significance (Sep 22, 2022)	criteria provided, single submitter
Select item 197726744.	NM_003239.5(TGFB3):c.755-16del GRCh37: Chr14:76429846 GRCh38: Chr14:75963503	TGFB3		Rienhoff syndrome	Likely benign (Aug 25, 2022)	criteria provided, single submitter
Select item 196610945.	NM_003239.5(TGFB3):c.623T>C (p.Val208Ala) GRCh37: Chr14:76437492 GRCh38: Chr14:75971149	TGFB3	V208A	not provided, Rienhoff syndrome	Uncertain significance (Jun 20, 2023)	criteria provided, multiple submitters, no conflicts
Select item 196504746.	NM_003239.5(TGFB3):c.179C>G (p.Thr60Arg) GRCh37: Chr14:76447058 GRCh38: Chr14:75980715	TGFB3	T60R	Rienhoff syndrome	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 195982647.	NM_003239.5(TGFB3):c.293C>G (p.Ser98Trp) GRCh37: Chr14:76446944 GRCh38: Chr14:75980601	TGFB3	S98W	Rienhoff syndrome	Uncertain significance (Sep 23, 2022)	criteria provided, single submitter
Select item 195266448.	NM_003239.5(TGFB3):c.755-1G>A GRCh37: Chr14:76429831 GRCh38: Chr14:75963488	TGFB3		Rienhoff syndrome	Likely pathogenic (Oct 29, 2022)	criteria provided, single submitter
Select item 194882449.	NM_003239.5(TGFB3):c.268G>A (p.Gly90Ser) GRCh37: Chr14:76446969 GRCh38: Chr14:75980626	TGFB3	G90S	Rienhoff syndrome	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 193531850.	NM_003239.5(TGFB3):c.40C>A (p.Leu14Met) GRCh37: Chr14:76447197 GRCh38: Chr14:75980854	TGFB3	L14M	Rienhoff syndrome	Uncertain significance (Mar 2, 2022)	criteria provided, single submitter
Select item 191893351.	NM_003239.5(TGFB3):c.973C>A (p.Arg325=) GRCh37: Chr14:76427373 GRCh38: Chr14:75961030	TGFB3		Rienhoff syndrome	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 176421652.	NM_003239.5(TGFB3):c.865G>A (p.Asp289Asn) GRCh37: Chr14:76429720 GRCh38: Chr14:75963377	TGFB3	D289N	not provided, Rienhoff syndrome, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Sep 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 175327553.	NM_003239.5(TGFB3):c.1221G>C (p.Lys407Asn) GRCh37: Chr14:76425548 GRCh38: Chr14:75959205	TGFB3	K407N	Familial thoracic aortic aneurysm and aortic dissection, Rienhoff syndrome	Uncertain significance (Aug 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 173668454.	NM_003239.5(TGFB3):c.397C>T (p.Arg133Cys) GRCh37: Chr14:76438017 GRCh38: Chr14:75971674	TGFB3	R133C	Rienhoff syndrome, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Jan 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 171966255.	NM_003239.5(TGFB3):c.742A>T (p.Ile248Phe) GRCh37: Chr14:76431943 GRCh38: Chr14:75965600	TGFB3	I248F	Rienhoff syndrome	Uncertain significance (Sep 21, 2022)	criteria provided, single submitter
Select item 171613156.	NM_003239.5(TGFB3):c.155G>A (p.Arg52Lys) GRCh37: Chr14:76447082 GRCh38: Chr14:75980739	TGFB3	R52K	Rienhoff syndrome	Uncertain significance (Jul 16, 2022)	criteria provided, single submitter
Select item 171552657.	NM_003239.5(TGFB3):c.458T>A (p.Val153Asp) GRCh37: Chr14:76437956 GRCh38: Chr14:75971613	TGFB3	V153D	Rienhoff syndrome	Uncertain significance (Aug 7, 2022)	criteria provided, single submitter
Select item 169894058.	NM_003239.5(TGFB3):c.161C>T (p.Thr54Ile) GRCh37: Chr14:76447076 GRCh38: Chr14:75980733	TGFB3	T54I	Rienhoff syndrome	Uncertain significance (Jan 17, 2022)	criteria provided, single submitter
Select item 167643759.	NM_003239.5(TGFB3):c.154A>T (p.Arg52Trp)	TGFB3	R52W	Rienhoff syndrome, not provided, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Feb 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 166929460.	NM_003239.5(TGFB3):c.755-6C>G GRCh37: Chr14:76429836 GRCh38: Chr14:75963493	TGFB3		Rienhoff syndrome	Likely benign (Jan 6, 2021)	criteria provided, single submitter
Select item 165009561.	NM_003239.5(TGFB3):c.926+17A>G GRCh37: Chr14:76429642 GRCh38: Chr14:75963299	TGFB3		Rienhoff syndrome	Likely benign (Feb 21, 2022)	criteria provided, single submitter
Select item 164164262.	NM_003239.5(TGFB3):c.1081-8C>G GRCh37: Chr14:76425696 GRCh38: Chr14:75959353	TGFB3		Rienhoff syndrome	Likely benign (May 3, 2021)	criteria provided, single submitter
Select item 163956863.	NM_003239.5(TGFB3):c.647-17T>C GRCh37: Chr14:76432055 GRCh38: Chr14:75965712	TGFB3		Rienhoff syndrome	Likely benign (Sep 12, 2022)	criteria provided, single submitter
Select item 163113864.	NM_003239.5(TGFB3):c.1074C>T (p.His358=) GRCh37: Chr14:76427272 GRCh38: Chr14:75960929	TGFB3		Rienhoff syndrome	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 163046365.	NM_003239.5(TGFB3):c.1137G>A (p.Val379=) GRCh37: Chr14:76425632 GRCh38: Chr14:75959289	TGFB3		Rienhoff syndrome	Likely benign (Mar 17, 2021)	criteria provided, single submitter
Select item 162311366.	NM_003239.5(TGFB3):c.516+15A>G GRCh37: Chr14:76437883 GRCh38: Chr14:75971540	TGFB3		Rienhoff syndrome	Likely benign (Jun 5, 2021)	criteria provided, single submitter
Select item 161403067.	NM_003239.5(TGFB3):c.516+18G>C GRCh37: Chr14:76437880 GRCh38: Chr14:75971537	TGFB3		Rienhoff syndrome	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 161010568.	NM_003239.5(TGFB3):c.1081-8C>T GRCh37: Chr14:76425696 GRCh38: Chr14:75959353	TGFB3		Rienhoff syndrome	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 160518269.	NM_003239.5(TGFB3):c.926+11del GRCh37: Chr14:76429648 GRCh38: Chr14:75963305	TGFB3		Rienhoff syndrome	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 158783570.	NM_003239.5(TGFB3):c.393T>C (p.Val131=) GRCh37: Chr14:76438021 GRCh38: Chr14:75971678	TGFB3		Rienhoff syndrome, Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Feb 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 158223171.	NM_003239.5(TGFB3):c.926+11G>A GRCh37: Chr14:76429648 GRCh38: Chr14:75963305	TGFB3		Rienhoff syndrome	Likely benign (Dec 15, 2021)	criteria provided, single submitter
Select item 155105072.	NM_003239.5(TGFB3):c.897G>A (p.Lys299=) GRCh37: Chr14:76429688 GRCh38: Chr14:75963345	TGFB3		Rienhoff syndrome	Likely benign (Oct 18, 2021)	criteria provided, single submitter
Select item 154967473.	NM_003239.5(TGFB3):c.516+14C>T GRCh37: Chr14:76437884 GRCh38: Chr14:75971541	TGFB3		Rienhoff syndrome	Likely benign (Oct 12, 2021)	criteria provided, single submitter
Select item 154661374.	NM_003239.5(TGFB3):c.954C>T (p.Arg318=) GRCh37: Chr14:76427392 GRCh38: Chr14:75961049	TGFB3		Rienhoff syndrome	Likely benign (Nov 18, 2021)	criteria provided, single submitter
Select item 153352775.	NM_003239.5(TGFB3):c.291G>A (p.Glu97=) GRCh37: Chr14:76446946 GRCh38: Chr14:75980603	TGFB3		Rienhoff syndrome	Likely benign (Aug 5, 2021)	criteria provided, single submitter
Select item 153046776.	NM_003239.5(TGFB3):c.517-10T>C GRCh37: Chr14:76437608 GRCh38: Chr14:75971265	TGFB3		Rienhoff syndrome, not provided	Conflicting interpretations of pathogenicity (Nov 24, 2021)	criteria provided, conflicting interpretations
Select item 152807077.	NM_003239.5(TGFB3):c.1023C>T (p.Ala341=) GRCh37: Chr14:76427323 GRCh38: Chr14:75960980	TGFB3		Rienhoff syndrome, Familial thoracic aortic aneurysm and aortic dissection	Likely benign (Jan 29, 2021)	criteria provided, multiple submitters, no conflicts
Select item 151055478.	NM_003239.5(TGFB3):c.927-10T>G GRCh37: Chr14:76427429 GRCh38: Chr14:75961086	TGFB3		Rienhoff syndrome	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 150904079.	NC_000014.8:g.(?_76425530)_(76432058_?)del GRCh37: Chr14:76425530-76432058	TGFB3		Rienhoff syndrome	Likely pathogenic (Oct 23, 2021)	criteria provided, single submitter
Select item 150274980.	NM_003239.5(TGFB3):c.914A>C (p.Asn305Thr) GRCh37: Chr14:76429671 GRCh38: Chr14:75963328	TGFB3	N305T	Rienhoff syndrome	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 150237981.	NM_003239.5(TGFB3):c.653A>T (p.Asn218Ile) GRCh37: Chr14:76432032 GRCh38: Chr14:75965689	TGFB3	N218I	Rienhoff syndrome	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 150110182.	NM_003239.5(TGFB3):c.713T>C (p.Ile238Thr) GRCh37: Chr14:76431972 GRCh38: Chr14:75965629	TGFB3	I238T	Rienhoff syndrome	Uncertain significance (Oct 26, 2022)	criteria provided, single submitter
Select item 149744883.	NM_003239.5(TGFB3):c.779G>A (p.Gly260Asp) GRCh37: Chr14:76429806 GRCh38: Chr14:75963463	TGFB3	G260D	Rienhoff syndrome	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 148758484.	NM_003239.5(TGFB3):c.842T>C (p.Met281Thr) GRCh37: Chr14:76429743 GRCh38: Chr14:75963400	TGFB3	M281T	Rienhoff syndrome	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 148331485.	NM_003239.5(TGFB3):c.1183A>G (p.Thr395Ala) GRCh37: Chr14:76425586 GRCh38: Chr14:75959243	TGFB3	T395A	Rienhoff syndrome	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 148127786.	NM_003239.5(TGFB3):c.41T>C (p.Leu14Pro) GRCh37: Chr14:76447196 GRCh38: Chr14:75980853	TGFB3	L14P	Rienhoff syndrome	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 147807487.	NM_003239.5(TGFB3):c.812A>G (p.Lys271Arg) GRCh37: Chr14:76429773 GRCh38: Chr14:75963430	TGFB3	K271R	Rienhoff syndrome, Familial thoracic aortic aneurysm and aortic dissection	Uncertain significance (Oct 19, 2021)	criteria provided, multiple submitters, no conflicts
Select item 146502688.	NM_003239.5(TGFB3):c.1040C>T (p.Pro347Leu) GRCh37: Chr14:76427306 GRCh38: Chr14:75960963	TGFB3	P347L	Rienhoff syndrome, not provided	Uncertain significance (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 145388489.	NM_003239.5(TGFB3):c.436del (p.Leu146fs) GRCh37: Chr14:76437978 GRCh38: Chr14:75971635	TGFB3	L146fs	Rienhoff syndrome	Pathogenic (Mar 18, 2022)	criteria provided, single submitter
Select item 145195290.	NM_003239.5(TGFB3):c.355del (p.Glu119fs) GRCh37: Chr14:76438059 GRCh38: Chr14:75971716	TGFB3	E119fs	Rienhoff syndrome	Pathogenic (Apr 15, 2022)	criteria provided, single submitter
Select item 144761391.	NM_003239.5(TGFB3):c.469C>G (p.Pro157Ala) GRCh37: Chr14:76437945 GRCh38: Chr14:75971602	TGFB3	P157A	Rienhoff syndrome	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 143864992.	NM_003239.5(TGFB3):c.914A>G (p.Asn305Ser) GRCh37: Chr14:76429671 GRCh38: Chr14:75963328	TGFB3	N305S	Familial thoracic aortic aneurysm and aortic dissection, Rienhoff syndrome	Uncertain significance (Apr 3, 2023)	criteria provided, multiple submitters, no conflicts
Select item 143359893.	NM_003239.5(TGFB3):c.1076G>C (p.Ser359Thr) GRCh37: Chr14:76427270 GRCh38: Chr14:75960927	TGFB3	S359T	Familial thoracic aortic aneurysm and aortic dissection, Rienhoff syndrome	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 142977194.	NM_003239.5(TGFB3):c.646G>A (p.Glu216Lys) GRCh37: Chr14:76437469 GRCh38: Chr14:75971126	TGFB3	E216K	Rienhoff syndrome	Uncertain significance (Oct 3, 2021)	criteria provided, single submitter
Select item 140784695.	NM_003239.5(TGFB3):c.1150G>A (p.Glu384Lys) GRCh37: Chr14:76425619 GRCh38: Chr14:75959276	TGFB3	E384K	Rienhoff syndrome	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 139474096.	NM_003239.5(TGFB3):c.230G>A (p.Arg77Gln) GRCh37: Chr14:76447007 GRCh38: Chr14:75980664	TGFB3	R77Q	Rienhoff syndrome, Arrhythmogenic right ventricular dysplasia 1, Rienhoff syndrome, Familial thoracic aortic aneurysm and aortic dissection, not provided	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 139210797.	NM_003239.5(TGFB3):c.723del (p.Asn241fs) GRCh37: Chr14:76431962 GRCh38: Chr14:75965619	TGFB3	N241fs	Rienhoff syndrome	Pathogenic (Nov 25, 2020)	criteria provided, single submitter
Select item 138625598.	NM_003239.5(TGFB3):c.524G>A (p.Arg175Gln) GRCh37: Chr14:76437591 GRCh38: Chr14:75971248	TGFB3	R175Q	Rienhoff syndrome, not provided	Uncertain significance (Nov 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 138520399.	NM_003239.5(TGFB3):c.727C>A (p.His243Asn) GRCh37: Chr14:76431958 GRCh38: Chr14:75965615	TGFB3	H243N	Rienhoff syndrome	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 1375756100.	NM_003239.5(TGFB3):c.94T>A (p.Phe32Ile) GRCh37: Chr14:76447143 GRCh38: Chr14:75980800	TGFB3	F32I	Rienhoff syndrome, Familial thoracic aortic aneurysm and aortic dissection, not provided	Uncertain significance (Mar 3, 2023)	criteria provided, multiple submitters, no conflicts

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