"All of Us Research Program, National Institutes of Health"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3071608	NM_003242.6(TGFBR2):c.-9G>A	TGFBR2	Single nucleotide variant (5 prime UTR variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 3075497	NM_003242.6(TGFBR2):c.-1C>T	TGFBR2	Single nucleotide variant (5 prime UTR variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2013002	NM_003242.6(TGFBR2):c.4G>A (p.Gly2Ser)	TGFBR2 (G2S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 618429	NM_003242.6(TGFBR2):c.6T>C (p.Gly2=)	TGFBR2	Single nucleotide variant (synonymous variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GLikely benign
Select item 2431494	NM_003242.6(TGFBR2):c.7C>T (p.Arg3Trp)	TGFBR2 (R3W)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 3072678	NM_003242.6(TGFBR2):c.8G>C (p.Arg3Pro)	TGFBR2 (R3P)	Single nucleotide variant (5 prime UTR variant +2 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 922243	NM_003242.6(TGFBR2):c.8G>A (p.Arg3Gln)	TGFBR2 (R3Q)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance/Uncertain risk allele
Select item 566446	NM_003242.6(TGFBR2):c.15_25dup (p.Leu9fs)	TGFBR2 (L9fs)	Duplication (frameshift variant)	Diabetic retinopathy +2 more	GConflicting classifications of pathogenicity
Select item 3070771	NM_003242.6(TGFBR2):c.35_55dup (p.Thr18_Arg19insLeuHisIleValLeuTrpThr)	TGFBR2	Duplication (inframe_insertion +2 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 3069529	NM_003242.6(TGFBR2):c.33G>C (p.Pro11=)	TGFBR2	Single nucleotide variant (synonymous variant +2 more)	Loeys-Dietz syndrome 2	GLikely benign
Select item 629715	NM_003242.6(TGFBR2):c.43G>T (p.Val15Phe)	TGFBR2 (V15F)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance/Uncertain risk allele
Select item 1133135	NM_003242.6(TGFBR2):c.54G>C (p.Thr18=)	TGFBR2	Single nucleotide variant (synonymous variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 1303292	NM_003242.6(TGFBR2):c.56G>T (p.Arg19Leu)	TGFBR2 (R19L)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2 +1 more	GUncertain significance
Select item 921794	NM_003242.6(TGFBR2):c.56G>A (p.Arg19His)	TGFBR2 (R19H)	Single nucleotide variant (missense variant)	Diabetic retinopathy +2 more	GUncertain significance/Uncertain risk allele
Select item 3073579	NM_003242.6(TGFBR2):c.58A>T (p.Ile20Phe)	TGFBR2 (I20F)	Single nucleotide variant (missense variant +2 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2962190	NM_003242.6(TGFBR2):c.61G>T (p.Ala21Ser)	TGFBR2 (A21S)	Single nucleotide variant (missense variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 924974	NM_003242.6(TGFBR2):c.64A>T (p.Ser22Cys)	TGFBR2 (S22C)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance/Uncertain risk allele
Select item 239533	NM_003242.6(TGFBR2):c.69G>T (p.Thr23=)	TGFBR2	Single nucleotide variant (synonymous variant +2 more)	Loeys-Dietz syndrome 2 +3 more	GConflicting classifications of pathogenicity
Select item 543908	NM_003242.6(TGFBR2):c.75A>G (p.Pro25=)	TGFBR2	Single nucleotide variant (synonymous variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign/Likely benign
Select item 858705	NM_003242.6(TGFBR2):c.76C>T (p.Pro26Ser)	TGFBR2 (P26S)	Single nucleotide variant (missense variant)	Diabetic retinopathy +5 more	GUncertain significance/Uncertain risk allele
Select item 3001809	NM_003242.6(TGFBR2):c.77C>T (p.Pro26Leu)	TGFBR2 (P26L)	Single nucleotide variant (missense variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 731946	NM_003242.6(TGFBR2):c.78G>A (p.Pro26=)	TGFBR2	Single nucleotide variant (synonymous variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GLikely benign
Select item 3073994	NM_003242.6(TGFBR2):c.81C>G (p.His27Gln)	TGFBR2 (H27Q)	Single nucleotide variant (missense variant +2 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 381098	NM_003242.6(TGFBR2):c.81C>T (p.His27=)	TGFBR2	Single nucleotide variant (synonymous variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 1444366	NM_003242.6(TGFBR2):c.91T>G (p.Ser31Ala)	TGFBR2 (S31A)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 700544	NM_003242.6(TGFBR2):c.95-10C>G	TGFBR2	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 3072562	NM_003242.6(TGFBR2):c.95-6C>T	TGFBR2	Single nucleotide variant (intron variant)	Loeys-Dietz syndrome 2	GLikely benign
Select item 1171653	NM_003242.6(TGFBR2):c.98A>G (p.Asn33Ser)	TGFBR2 (N33S +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 923682	NM_003242.6(TGFBR2):c.103G>C (p.Asp35His)	TGFBR2 (D35H +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 921249	NM_003242.6(TGFBR2):c.103G>A (p.Asp35Asn)	TGFBR2 (D60N +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 264100	NM_003242.6(TGFBR2):c.106A>G (p.Met36Val)	TGFBR2 (M36V +3 more)	Single nucleotide variant (missense variant)	Diabetic retinopathy +4 more	GLikely benign
Select item 239526	NM_003242.6(TGFBR2):c.116C>A (p.Thr39Asn)	TGFBR2 (T39N +3 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2 +6 more	GUncertain significance/Uncertain risk allele
Select item 2442952	NM_003242.6(TGFBR2):c.124A>G (p.Asn42Asp)	TGFBR2 (N42D +3 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2 +1 more	GUncertain significance
Select item 920145	NM_003242.6(TGFBR2):c.125A>G (p.Asn42Ser)	TGFBR2 (N67S +3 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 543907	NM_003242.6(TGFBR2):c.126C>T (p.Asn42=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 2157239	NM_003242.6(TGFBR2):c.127G>A (p.Gly43Ser)	TGFBR2 (G68S +3 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 2872153	NM_003242.6(TGFBR2):c.147A>G (p.Gln49=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 2 +1 more	GLikely benign
Select item 835852	NM_003242.6(TGFBR2):c.148C>G (p.Leu50Val)	TGFBR2 (L75V +3 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance/Uncertain risk allele
Select item 3073325	NM_003242.6(TGFBR2):c.168G>A (p.Val56=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 3069839	NM_003242.6(TGFBR2):c.190C>A (p.Gln64Lys)	TGFBR2 (Q29K +3 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 2920260	NM_003242.6(TGFBR2):c.202A>G (p.Met68Val)	TGFBR2 (M33V +3 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 408442	NM_003242.6(TGFBR2):c.215G>A (p.Ser72Asn)	TGFBR2 (S72N +3 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2 +5 more	GConflicting classifications of pathogenicity
Select item 2774565	NM_003242.6(TGFBR2):c.221C>A (p.Thr74Asn)	TGFBR2 (T74N +3 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2 +1 more	GUncertain significance
Select item 3074609	NM_003242.6(TGFBR2):c.226A>C (p.Ile76Leu)	TGFBR2 (I101L +3 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 3075369	NM_003242.6(TGFBR2):c.227T>C (p.Ile76Thr)	TGFBR2 (I101T +3 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 3070372	NM_003242.6(TGFBR2):c.235A>G (p.Lys79Glu)	TGFBR2 (K104E +3 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 3074970	NM_003242.6(TGFBR2):c.256G>T (p.Ala86Ser)	TGFBR2 (A111S +3 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 701167	NM_003242.6(TGFBR2):c.264-7A>G	TGFBR2	Single nucleotide variant (intron variant)	Loeys-Dietz syndrome 2 +3 more	GLikely benign
Select item 706875	NM_003242.6(TGFBR2):c.276C>T (p.Asp92=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Diabetic retinopathy +2 more	GLikely benign
Select item 920483	NM_003242.6(TGFBR2):c.277G>A (p.Glu93Lys)	TGFBR2 (E93K +3 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 3074314	NM_003242.6(TGFBR2):c.281A>C (p.Asn94Thr)	TGFBR2 (N103T +3 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 213914	NM_003242.6(TGFBR2):c.296C>T (p.Thr99Ile)	TGFBR2 (T124I +3 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2 +2 more	GUncertain significance/Uncertain risk allele
Select item 3072730	NM_003242.6(TGFBR2):c.302G>A (p.Cys101Tyr)	TGFBR2 (C101Y +3 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 3075181	NM_003242.6(TGFBR2):c.310C>A (p.Pro104Thr)	TGFBR2 (P104T +3 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2 +1 more	GUncertain significance/Uncertain risk allele
Select item 36868	NM_003242.6(TGFBR2):c.310C>T (p.Pro104Ser)	TGFBR2 (P104S +3 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 1939838	NM_003242.6(TGFBR2):c.315G>C (p.Lys105Asn)	TGFBR2 (K105N +3 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 927079	NM_003242.6(TGFBR2):c.340G>C (p.Glu114Gln)	TGFBR2 (E139Q +3 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GUncertain significance/Uncertain risk allele
Select item 3071319	NM_003242.6(TGFBR2):c.344A>T (p.Asp115Val)	TGFBR2 (D115V +3 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 3069879	NM_003242.6(TGFBR2):c.357A>G (p.Pro119=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 2	GLikely benign
Select item 1423123	NM_003242.6(TGFBR2):c.358A>G (p.Lys120Glu)	TGFBR2 (K145E +3 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2 +1 more	GUncertain significance
Select item 213939	NM_003242.6(TGFBR2):c.367A>T (p.Met123Leu)	TGFBR2 (M123L +3 more)	Single nucleotide variant (missense variant)	Marfan syndrome +6 more	GConflicting classifications of pathogenicity
Select item 1148284	NM_003242.6(TGFBR2):c.378A>G (p.Lys126=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 2 +1 more	GLikely benign
Select item 1010664	NM_003242.6(TGFBR2):c.385C>G (p.Pro129Ala)	TGFBR2 (P129A +3 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 3074315	NM_003242.6(TGFBR2):c.387T>G (p.Pro129=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 2	GLikely benign
Select item 543895	NM_003242.6(TGFBR2):c.394A>G (p.Thr132Ala)	TGFBR2 (T132A +3 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2 +2 more	GUncertain significance/Uncertain risk allele
Select item 927735	NM_003242.6(TGFBR2):c.395C>T (p.Thr132Ile)	TGFBR2 (T132I +3 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance/Uncertain risk allele
Select item 1171647	NM_003242.6(TGFBR2):c.403A>G (p.Met135Val)	TGFBR2 (M135V +3 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 213915	NM_003242.6(TGFBR2):c.412T>G (p.Cys138Gly)	TGFBR2 (C138G +3 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +6 more	GConflicting classifications of pathogenicity
Select item 3072899	NM_003242.6(TGFBR2):c.427T>C (p.Cys143Arg)	TGFBR2 (C108R +3 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 3070364	NM_003242.6(TGFBR2):c.431A>G (p.Asn144Ser)	TGFBR2 (N109S +3 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 3073798	NM_003242.6(TGFBR2):c.432T>A (p.Asn144Lys)	TGFBR2 (N109K +3 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 3073797	NM_003242.6(TGFBR2):c.443T>C (p.Ile148Thr)	TGFBR2 (I113T +3 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 811924	NM_003242.6(TGFBR2):c.452A>T (p.Glu151Val)	TGFBR2 (E151V +3 more)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +3 more	GUncertain significance
Select item 213940	NM_003242.6(TGFBR2):c.454G>A (p.Glu152Lys)	TGFBR2 (E152K +7 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 1056170	NM_003242.6(TGFBR2):c.454+3G>A	TGFBR2	Single nucleotide variant (intron variant)	Loeys-Dietz syndrome 2 +1 more	GUncertain significance
Select item 1545029	NM_003242.6(TGFBR2):c.455-9C>T	TGFBR2	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 2888430	NM_003242.6(TGFBR2):c.462C>T (p.Asn154=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 2 +1 more	GLikely benign
Select item 177927	NM_003242.6(TGFBR2):c.464C>T (p.Thr155Ile)	TGFBR2 (T155I +8 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 3072068	NM_003242.6(TGFBR2):c.468C>T (p.Ser156=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 2	GLikely benign
Select item 1742448	NM_003242.6(TGFBR2):c.468C>G (p.Ser156Arg)	TGFBR2 (S192R +8 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 919700	NM_003242.6(TGFBR2):c.486A>G (p.Leu162=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 3069809	NM_003242.6(TGFBR2):c.530G>A (p.Gly177Glu)	TGFBR2 (G142E +8 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 3070871	NM_003242.6(TGFBR2):c.531A>G (p.Gly177=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 2	GLikely benign
Select item 1171145	NM_003242.6(TGFBR2):c.538A>G (p.Ile180Val)	TGFBR2 (I180V +8 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3071052	NM_003242.6(TGFBR2):c.544G>A (p.Val182Ile)	TGFBR2 (V147I +8 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 918970	NM_003242.6(TGFBR2):c.550A>G (p.Ile184Val)	TGFBR2 (I184V +8 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 2144655	NM_003242.6(TGFBR2):c.555C>T (p.Ile185=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 408439	NM_003242.6(TGFBR2):c.556T>A (p.Phe186Ile)	TGFBR2 (F211I +8 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2 +2 more	GUncertain significance
Select item 543909	NM_003242.6(TGFBR2):c.567C>T (p.Tyr189=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GLikely benign
Select item 403531	NM_003242.6(TGFBR2):c.569G>A (p.Arg190His)	TGFBR2 (R190H +8 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2 +5 more	GUncertain significance
Select item 1298909	NM_003242.6(TGFBR2):c.570C>T (p.Arg190=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 918793	NM_003242.6(TGFBR2):c.578G>A (p.Arg193Gln)	TGFBR2 (R218Q +8 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2 +1 more	GUncertain significance
Select item 3069845	NM_003242.6(TGFBR2):c.594T>A (p.Ser198Arg)	TGFBR2 (S103R +8 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 263842	NM_003242.6(TGFBR2):c.594T>C (p.Ser198=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 239532	NM_003242.6(TGFBR2):c.609C>T (p.Thr203=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Loeys-Dietz syndrome 2 +1 more	GLikely benign
Select item 44659	NM_003242.6(TGFBR2):c.617C>T (p.Thr206Met)	TGFBR2 (T206M +8 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 3075302	NM_003242.6(TGFBR2):c.619C>G (p.Arg207Gly)	TGFBR2 (R112G +8 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 919747	NM_003242.6(TGFBR2):c.619C>T (p.Arg207Trp)	TGFBR2 (R207W +8 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 628340	NM_003242.6(TGFBR2):c.620G>A (p.Arg207Gln)	TGFBR2 (R232Q +8 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2 +6 more	GConflicting classifications of pathogenicity
Select item 344657	NM_003242.6(TGFBR2):c.621G>A (p.Arg207=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Marfan syndrome +3 more	GConflicting classifications of pathogenicity

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