ClinVar for MedGen (Select 816342) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244034	NC_000014.8:g.(?_76429639)_(76447236_?)dup	TGFB3	Duplication	Rienhoff syndrome	GUncertain significance
Select item 3244033	NC_000014.8:g.(?_76349008)_(76967064_?)dup	ESRRB, GPATCH2L +3 more	Duplication	Rienhoff syndrome	GUncertain significance
Select item 3244032	NC_000014.8:g.(?_76425530)_(76427439_?)del	TGFB3	Deletion	Rienhoff syndrome	GPathogenic
Select item 3244031	NC_000014.8:g.(?_76446865)_(76447236_?)del	TGFB3	Deletion	Rienhoff syndrome	GPathogenic
Select item 3244030	NC_000014.8:g.(?_76425530)_(76447236_?)del	TGFB3	Deletion	Rienhoff syndrome	GPathogenic
Select item 3017014	NM_003239.5(TGFB3):c.1080+14T>A	TGFB3	Single nucleotide variant (intron variant)	Rienhoff syndrome	GLikely benign
Select item 3005915	NM_003239.5(TGFB3):c.219C>T (p.Tyr73=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome	GLikely benign
Select item 3003175	NM_003239.5(TGFB3):c.1128T>C (p.Pro376=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome	GLikely benign
Select item 2990388	NM_003239.5(TGFB3):c.1059T>C (p.Ser353=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome	GLikely benign
Select item 2970836	NM_003239.5(TGFB3):c.646+18A>C	TGFB3	Single nucleotide variant (intron variant)	Rienhoff syndrome	GLikely benign
Select item 2920313	NM_003239.5(TGFB3):c.866A>G (p.Asp289Gly)	TGFB3 (D289G)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 2918931	NM_003239.5(TGFB3):c.353-14G>T	TGFB3	Single nucleotide variant (intron variant)	Rienhoff syndrome	GLikely benign
Select item 2914621	NM_003239.5(TGFB3):c.714C>T (p.Ile238=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome	GLikely benign
Select item 2903112	NM_003239.5(TGFB3):c.462G>T (p.Leu154Phe)	TGFB3 (L154F)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 2902378	NM_003239.5(TGFB3):c.325G>T (p.Asp109Tyr)	TGFB3 (D109Y)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 2899751	NM_003239.5(TGFB3):c.656T>C (p.Leu219Ser)	TGFB3 (L219S)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 2892826	NM_003239.5(TGFB3):c.1173T>C (p.Tyr391=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome	GLikely benign
Select item 2890097	NM_003239.5(TGFB3):c.705T>G (p.Asn235Lys)	TGFB3 (N235K)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 2882409	NM_003239.5(TGFB3):c.755-18T>C	TGFB3	Single nucleotide variant (intron variant)	Rienhoff syndrome	GLikely benign
Select item 2878430	NM_003239.5(TGFB3):c.1154C>T (p.Pro385Leu)	TGFB3 (P385L)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 2870472	NM_003239.5(TGFB3):c.1026C>T (p.Asn342=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome	GLikely benign
Select item 2862180	NM_003239.5(TGFB3):c.496_497del (p.Gln166fs)	TGFB3 (Q166fs)	Deletion (frameshift variant)	Rienhoff syndrome	GPathogenic
Select item 2841522	NM_003239.5(TGFB3):c.517-18C>G	TGFB3	Single nucleotide variant (intron variant)	Rienhoff syndrome	GLikely benign
Select item 2840354	NM_003239.5(TGFB3):c.1081-12G>A	TGFB3	Single nucleotide variant (intron variant)	Rienhoff syndrome	GLikely benign
Select item 2828176	NM_003239.5(TGFB3):c.406G>A (p.Val136Met)	TGFB3 (V136M)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 2827612	NM_003239.5(TGFB3):c.352+17G>A	TGFB3	Single nucleotide variant (intron variant)	Rienhoff syndrome	GLikely benign
Select item 2818463	NM_003239.5(TGFB3):c.754+11G>T	TGFB3	Single nucleotide variant (intron variant)	Rienhoff syndrome	GLikely benign
Select item 2806440	NM_003239.5(TGFB3):c.496C>T (p.Gln166Ter)	TGFB3 (Q166*)	Single nucleotide variant (nonsense)	Rienhoff syndrome	GPathogenic
Select item 2794104	NM_003239.5(TGFB3):c.837C>T (p.Ile279=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome	GLikely benign
Select item 2791529	NM_003239.5(TGFB3):c.590C>T (p.Ala197Val)	TGFB3 (A197V)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 2783914	NM_003239.5(TGFB3):c.547C>T (p.Gln183Ter)	TGFB3 (Q183*)	Single nucleotide variant (nonsense)	Rienhoff syndrome	GPathogenic
Select item 2781617	NM_003239.5(TGFB3):c.646+16A>T	TGFB3	Single nucleotide variant (intron variant)	Rienhoff syndrome	GLikely benign
Select item 2779764	NM_003239.5(TGFB3):c.66C>T (p.Leu22=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome	GLikely benign
Select item 2777355	NM_003239.5(TGFB3):c.472A>G (p.Asn158Asp)	TGFB3 (N158D)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 2765877	NM_003239.5(TGFB3):c.1237T>C (p.Ter413Arg)	TGFB3	Single nucleotide variant (stop lost)	Rienhoff syndrome	GUncertain significance
Select item 2760768	NM_003239.5(TGFB3):c.716T>C (p.Leu239Pro)	TGFB3 (L239P)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 2757875	NM_003239.5(TGFB3):c.755-10C>T	TGFB3	Single nucleotide variant (intron variant)	Rienhoff syndrome	GLikely benign
Select item 2757292	NM_003239.5(TGFB3):c.1006C>T (p.Pro336Ser)	TGFB3 (P336S)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 2756183	NM_003239.5(TGFB3):c.641G>A (p.Arg214Lys)	TGFB3 (R214K)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 2751751	NM_003239.5(TGFB3):c.516+1G>T	TGFB3	Single nucleotide variant (splice donor variant)	Rienhoff syndrome	GPathogenic
Select item 2745762	NM_003239.5(TGFB3):c.1101T>G (p.Thr367=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome	GLikely benign
Select item 2742041	NM_003239.5(TGFB3):c.926+12C>T	TGFB3	Single nucleotide variant (3 prime UTR variant +1 more)	Rienhoff syndrome	GLikely benign
Select item 2737596	NM_003239.5(TGFB3):c.353-19G>C	TGFB3	Single nucleotide variant (intron variant)	Rienhoff syndrome	GLikely benign
Select item 2736130	NM_003239.5(TGFB3):c.1202T>C (p.Leu401Pro)	TGFB3 (L401P)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GLikely pathogenic
Select item 2732645	NM_003239.5(TGFB3):c.43C>T (p.Leu15=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome	GLikely benign
Select item 2728618	NM_003239.5(TGFB3):c.951G>A (p.Val317=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome	GLikely benign
Select item 2726177	NM_003239.5(TGFB3):c.927-14G>A	TGFB3	Single nucleotide variant (intron variant)	Rienhoff syndrome	GLikely benign
Select item 2720514	NM_003239.5(TGFB3):c.934G>A (p.Glu312Lys)	TGFB3 (E312K)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 2716547	NM_003239.5(TGFB3):c.647A>G (p.Glu216Gly)	TGFB3 (E216G)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 2702561	NM_003239.5(TGFB3):c.1236C>G (p.Ser412Arg)	TGFB3 (S412R)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 2699309	NM_003239.5(TGFB3):c.985G>C (p.Gly329Arg)	TGFB3 (G329R)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 2695962	NM_003239.5(TGFB3):c.926+19_926+30del	TGFB3	Deletion (3 prime UTR variant +1 more)	Rienhoff syndrome	GLikely benign
Select item 2695571	NM_003239.5(TGFB3):c.1081G>T (p.Val361Leu)	TGFB3 (V361L)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 2692487	NM_003239.5(TGFB3):c.884del (p.Gly295fs)	TGFB3 (G295fs)	Deletion (frameshift variant)	Rienhoff syndrome +1 more	GLikely pathogenic
Select item 2683270	NM_003239.5(TGFB3):c.43C>A (p.Leu15Met)	TGFB3 (L15M)	Single nucleotide variant (missense variant)	Rienhoff syndrome +1 more	GUncertain significance
Select item 2586726	NM_003239.5(TGFB3):c.133G>A (p.Gly45Arg)	TGFB3 (G45R)	Single nucleotide variant (missense variant)	Rienhoff syndrome +1 more	GUncertain significance
Select item 2582633	NM_003239.5(TGFB3):c.997G>A (p.Val333Ile)	TGFB3 (V333I)	Single nucleotide variant (missense variant)	Rienhoff syndrome +1 more	GUncertain significance
Select item 2566619	NM_003239.5(TGFB3):c.57G>A (p.Thr19=)	TGFB3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 2500099	NM_003239.5(TGFB3):c.352+124C>G	TGFB3	Single nucleotide variant (intron variant)	Rienhoff syndrome +1 more	GUncertain significance
Select item 2452146	NM_003239.5(TGFB3):c.764A>G (p.Asn255Ser)	TGFB3 (N255S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 2429654	NM_003239.5(TGFB3):c.1184C>A (p.Thr395Asn)	TGFB3 (T395N)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2424660	NC_000014.8:g.(?_76425530)_(76432058_?)dup	TGFB3	Duplication	Rienhoff syndrome	GUncertain significance
Select item 2178440	NM_003239.5(TGFB3):c.523C>T (p.Arg175Trp)	TGFB3 (R175W)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 2161070	NM_003239.5(TGFB3):c.864C>T (p.Leu288=)	TGFB3	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 2150165	NM_003239.5(TGFB3):c.592G>A (p.Glu198Lys)	TGFB3 (E198K)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 2149468	NM_003239.5(TGFB3):c.50T>G (p.Phe17Cys)	TGFB3 (F17C)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 2146862	NM_003239.5(TGFB3):c.171T>G (p.Pro57=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome	GLikely benign
Select item 2143737	NM_003239.5(TGFB3):c.352+13T>C	TGFB3	Single nucleotide variant (intron variant)	Rienhoff syndrome	GLikely benign
Select item 2141903	NM_003239.5(TGFB3):c.644G>C (p.Arg215Thr)	TGFB3 (R215T)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 2138172	NM_003239.5(TGFB3):c.427A>T (p.Arg143Ter)	TGFB3 (R143*)	Single nucleotide variant (nonsense)	Rienhoff syndrome	GPathogenic
Select item 2131930	NM_003239.5(TGFB3):c.300C>T (p.Tyr100=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome	GLikely benign
Select item 2126250	NM_003239.5(TGFB3):c.638del (p.Leu212_Leu213insTer)	TGFB3	Deletion (nonsense)	Rienhoff syndrome	GPathogenic
Select item 2124848	NM_003239.5(TGFB3):c.162C>T (p.Thr54=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome	GLikely benign
Select item 2121887	NM_003239.5(TGFB3):c.1081-10C>A	TGFB3	Single nucleotide variant (intron variant)	Rienhoff syndrome	GLikely benign
Select item 2120574	NM_003239.5(TGFB3):c.927-6T>C	TGFB3	Single nucleotide variant (intron variant)	Rienhoff syndrome	GLikely benign
Select item 2118892	NM_003239.5(TGFB3):c.103A>G (p.Ile35Val)	TGFB3 (I35V)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 2117806	NM_003239.5(TGFB3):c.878del (p.Gln293fs)	TGFB3 (Q293fs)	Deletion (frameshift variant)	Rienhoff syndrome	GPathogenic
Select item 2115809	NM_003239.5(TGFB3):c.646+1G>T	TGFB3	Single nucleotide variant (splice donor variant)	Rienhoff syndrome	GLikely pathogenic
Select item 2107174	NM_003239.5(TGFB3):c.835A>C (p.Ile279Leu)	TGFB3 (I279L)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 2106087	NM_003239.5(TGFB3):c.1081-1G>A	TGFB3	Single nucleotide variant (splice acceptor variant)	Rienhoff syndrome	GLikely pathogenic
Select item 2105968	NM_003239.5(TGFB3):c.237G>T (p.Leu79=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome	GLikely benign
Select item 2091712	NM_003239.5(TGFB3):c.352+10A>G	TGFB3	Single nucleotide variant (intron variant)	Rienhoff syndrome	GLikely benign
Select item 2090165	NM_003239.5(TGFB3):c.735G>T (p.Val245=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome	GLikely benign
Select item 2084927	NM_003239.5(TGFB3):c.912dup (p.Asn305fs)	TGFB3 (N305fs)	Duplication (frameshift variant)	Rienhoff syndrome	GPathogenic
Select item 2075959	NM_003239.5(TGFB3):c.1125G>A (p.Ser375=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome	GLikely benign
Select item 2071508	NM_003239.5(TGFB3):c.164G>C (p.Ser55Thr)	TGFB3 (S55T)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 2067533	NM_003239.5(TGFB3):c.927-15T>C	TGFB3	Single nucleotide variant (intron variant)	Rienhoff syndrome	GLikely benign
Select item 2055002	NM_003239.5(TGFB3):c.1065C>T (p.Asp355=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome	GLikely benign
Select item 2040910	NM_003239.5(TGFB3):c.1213GTG[1] (p.Val406del)	TGFB3 (V406del)	Microsatellite (inframe_deletion)	Rienhoff syndrome	GUncertain significance
Select item 2037878	NM_003239.5(TGFB3):c.517-13C>T	TGFB3	Single nucleotide variant (intron variant)	Rienhoff syndrome	GLikely benign
Select item 2037205	NM_003239.5(TGFB3):c.926+19G>C	TGFB3	Single nucleotide variant (3 prime UTR variant +1 more)	Rienhoff syndrome	GLikely benign
Select item 2029032	NM_003239.5(TGFB3):c.95_96insA (p.Phe32fs)	TGFB3 (F32fs)	Insertion (frameshift variant)	Rienhoff syndrome	GPathogenic
Select item 2026166	NM_003239.5(TGFB3):c.722del (p.Asn241fs)	TGFB3 (N241fs)	Deletion (frameshift variant)	Rienhoff syndrome	GPathogenic
Select item 2022384	NM_003239.5(TGFB3):c.170_171del (p.Pro57fs)	TGFB3 (P57fs)	Deletion (frameshift variant)	Rienhoff syndrome	GPathogenic
Select item 2014576	NM_003239.5(TGFB3):c.170del (p.Pro57fs)	TGFB3 (P57fs)	Deletion (frameshift variant)	Rienhoff syndrome	GPathogenic
Select item 2010291	NM_003239.5(TGFB3):c.754+1G>A	TGFB3	Single nucleotide variant (splice donor variant)	Rienhoff syndrome	GLikely pathogenic
Select item 2006867	NM_003239.5(TGFB3):c.755-14C>T	TGFB3	Single nucleotide variant (intron variant)	Rienhoff syndrome	GLikely benign
Select item 2005232	NM_003239.5(TGFB3):c.185T>A (p.Met62Lys)	TGFB3 (M62K)	Single nucleotide variant (missense variant)	Rienhoff syndrome	GUncertain significance
Select item 2005117	NM_003239.5(TGFB3):c.646+17G>T	TGFB3	Single nucleotide variant (intron variant)	Rienhoff syndrome	GLikely benign
Select item 2000911	NM_003239.5(TGFB3):c.231G>A (p.Arg77=)	TGFB3	Single nucleotide variant (synonymous variant)	Rienhoff syndrome	GLikely benign

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