C0011884[trait identifier] AND "Clinical Genomics, Uppaluri K&H Person - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 101

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 901331	NM_001407129.1(TGFBR2):c.-109C>T	TGFBR2	Single nucleotide variant (5 prime UTR variant)	Diabetic retinopathy +1 more	GConflicting classifications of pathogenicity
Select item 344646	NM_003242.5(TGFBR2):c.-371A>C	TGFBR2	Single nucleotide variant (genic upstream transcript variant +1 more)	Loeys-Dietz syndrome +5 more	GConflicting classifications of pathogenicity
Select item 3220875	NM_003242.5(TGFBR2):c.-344C>T	TGFBR2	Single nucleotide variant (5 prime UTR variant)	Diabetic retinopathy	GUncertain risk allele
Select item 1001410	NM_003242.6(TGFBR2):c.-337T>A	TGFBR2	Single nucleotide variant (genic upstream transcript variant +1 more)	Malignant tumor of esophagus +4 more	GUncertain significance/Uncertain risk allele
Select item 344648	NM_003242.5(TGFBR2):c.-307C>T	TGFBR2	Single nucleotide variant (genic upstream transcript variant +1 more)	Loeys-Dietz syndrome +6 more	GConflicting classifications of pathogenicity
Select item 344649	NM_003242.5(TGFBR2):c.-302A>G	TGFBR2	Single nucleotide variant (5 prime UTR variant)	Loeys-Dietz syndrome +4 more	GLikely benign
Select item 344650	NM_003242.6(TGFBR2):c.-249T>G	TGFBR2	Single nucleotide variant (5 prime UTR variant)	Marfan syndrome +3 more	GUncertain significance/Uncertain risk allele
Select item 344651	NM_003242.6(TGFBR2):c.-228C>A	TGFBR2	Single nucleotide variant (5 prime UTR variant)	Marfan syndrome +3 more	GUncertain significance/Uncertain risk allele
Select item 3220877	NM_003242.6(TGFBR2):c.-195G>C	LOC129936399, TGFBR2	Single nucleotide variant (5 prime UTR variant +1 more)	Diabetic retinopathy	GUncertain risk allele
Select item 344652	NM_003242.6(TGFBR2):c.-193G>A	LOC129936399, TGFBR2	Single nucleotide variant (5 prime UTR variant)	Malignant tumor of esophagus +5 more	GUncertain significance/Uncertain risk allele
Select item 344653	NM_003242.6(TGFBR2):c.-128C>G	LOC129936399, TGFBR2	Single nucleotide variant (5 prime UTR variant)	Diabetic retinopathy +4 more	GBenign/Likely benign
Select item 901873	NM_003242.6(TGFBR2):c.-122T>G	LOC129936399, TGFBR2	Single nucleotide variant (5 prime UTR variant)	Diabetic retinopathy +1 more	GConflicting classifications of pathogenicity
Select item 344654	NM_003242.6(TGFBR2):c.-117G>A	LOC129936399, TGFBR2	Single nucleotide variant (5 prime UTR variant)	Marfan syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1012493	NM_003242.6(TGFBR2):c.-59C>G	TGFBR2	Single nucleotide variant (5 prime UTR variant)	Diabetic retinopathy +1 more	GConflicting classifications of pathogenicity
Select item 512897	NM_003242.6(TGFBR2):c.-31G>A	TGFBR2	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GLikely benign
Select item 489351	NM_003242.6(TGFBR2):c.-27G>C	TGFBR2	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance/Uncertain risk allele
Select item 3220874	NM_003242.6(TGFBR2):c.-26G>T	TGFBR2	Single nucleotide variant (5 prime UTR variant +1 more)	Diabetic retinopathy	GUncertain risk allele
Select item 344655	NM_003242.6(TGFBR2):c.-18C>A	TGFBR2	Single nucleotide variant (5 prime UTR variant)	Marfan syndrome +3 more	GConflicting classifications of pathogenicity
Select item 915707	NM_003242.6(TGFBR2):c.-13A>C	TGFBR2	Single nucleotide variant (5 prime UTR variant)	Diabetic retinopathy +1 more	GConflicting classifications of pathogenicity
Select item 928401	NM_003242.6(TGFBR2):c.-9G>T	TGFBR2	Single nucleotide variant (5 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance/Uncertain risk allele
Select item 177828	NM_003242.6(TGFBR2):c.-8G>A	TGFBR2	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GUncertain significance/Uncertain risk allele
Select item 920747	NM_003242.6(TGFBR2):c.1A>G (p.Met1Val)	TGFBR2 (M1V)	Single nucleotide variant (missense variant +1 more)	Diabetic retinopathy +4 more	GUncertain significance/Uncertain risk allele
Select item 239531	NM_003242.6(TGFBR2):c.4G>T (p.Gly2Cys)	TGFBR2 (G2C)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 618429	NM_003242.6(TGFBR2):c.6T>C (p.Gly2=)	TGFBR2	Single nucleotide variant (synonymous variant +2 more)	Loeys-Dietz syndrome 2 +4 more	GLikely benign
Select item 922243	NM_003242.6(TGFBR2):c.8G>A (p.Arg3Gln)	TGFBR2 (R3Q)	Single nucleotide variant (missense variant)	Diabetic retinopathy +2 more	GUncertain significance/Uncertain risk allele
Select item 628749	NM_003242.6(TGFBR2):c.9G>A (p.Arg3=)	TGFBR2	Single nucleotide variant (synonymous variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 566446	NM_003242.6(TGFBR2):c.15_25dup (p.Leu9fs)	TGFBR2 (L9fs)	Duplication (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 809440	NM_003242.6(TGFBR2):c.33G>T (p.Pro11=)	TGFBR2	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GLikely benign
Select item 629715	NM_003242.6(TGFBR2):c.43G>T (p.Val15Phe)	TGFBR2 (V15F)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2 +2 more	GUncertain significance/Uncertain risk allele
Select item 927137	NM_003242.6(TGFBR2):c.54G>A (p.Thr18=)	TGFBR2	Single nucleotide variant (synonymous variant +2 more)	Diabetic retinopathy +1 more	GLikely benign
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 920717	NM_003242.6(TGFBR2):c.58A>G (p.Ile20Val)	TGFBR2 (I20V)	Single nucleotide variant (missense variant)	Diabetic retinopathy +1 more	GUncertain significance/Uncertain risk allele
Select item 924974	NM_003242.6(TGFBR2):c.64A>T (p.Ser22Cys)	TGFBR2 (S22C)	Single nucleotide variant (missense variant)	not provided +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)	not provided +4 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)	Loeys-Dietz syndrome 2 +5 more	GUncertain significance/Uncertain risk allele
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 381098	NM_003242.6(TGFBR2):c.81C>T (p.His27=)	TGFBR2	Single nucleotide variant (synonymous variant +2 more)	Diabetic retinopathy +3 more	GConflicting classifications of pathogenicity
Select item 918998	NM_003242.6(TGFBR2):c.94+6T>G	TGFBR2	Single nucleotide variant (intron variant)	Diabetic retinopathy +2 more	GConflicting classifications of pathogenicity
Select item 378726	NM_003242.6(TGFBR2):c.94+16202A>G	TGFBR2	Single nucleotide variant (intron variant)	Diabetic retinopathy +2 more	GBenign/Likely benign
Select item 702620	NM_003242.6(TGFBR2):c.94+16236G>A	TGFBR2 (A37T +1 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 43689	NM_003242.6(TGFBR2):c.94+16238C>T	TGFBR2	Single nucleotide variant (synonymous variant +2 more)	Diabetic retinopathy +6 more	GBenign/Likely benign
Select item 378727	NM_003242.6(TGFBR2):c.94+16245G>A	TGFBR2 (D40N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 627738	NM_003242.6(TGFBR2):c.94+16256C>T	TGFBR2	Single nucleotide variant (synonymous variant +2 more)	Diabetic retinopathy +2 more	GLikely benign
Select item 1315157	NM_003242.6(TGFBR2):c.94+16260C>A	TGFBR2 (P45T +1 more)	Single nucleotide variant (missense variant +1 more)	Diabetic retinopathy +1 more	GUncertain significance/Uncertain risk allele
Select item 213912	NM_003242.6(TGFBR2):c.94+16263A>C	TGFBR2 (S46R +1 more)	Single nucleotide variant (missense variant +1 more)	Diabetic retinopathy +2 more	GConflicting classifications of pathogenicity
Select item 392457	NM_003242.6(TGFBR2):c.94+16273G>A	TGFBR2 (R49K +1 more)	Single nucleotide variant (missense variant +1 more)	Diabetic retinopathy +1 more	GUncertain significance/Uncertain risk allele
Select item 414974	NM_003242.6(TGFBR2):c.94+16278G>C	TGFBR2 (A51P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 213913	NM_003242.6(TGFBR2):c.94+16293C>A	TGFBR2 (H56N +1 more)	Single nucleotide variant (missense variant +1 more)	Diabetic retinopathy +5 more	GConflicting classifications of pathogenicity
Select item 390750	NM_003242.6(TGFBR2):c.94+16308T>C	TGFBR2	Single nucleotide variant (intron variant)	Diabetic retinopathy +1 more	GLikely benign
Select item 391191	NM_003242.6(TGFBR2):c.95-20A>G	TGFBR2	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
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 628867	NM_003242.6(TGFBR2):c.95-7T>C	TGFBR2	Single nucleotide variant (intron variant)	Diabetic retinopathy +2 more	GBenign/Likely benign
Select item 408434	NM_003242.6(TGFBR2):c.95-3C>A	TGFBR2	Single nucleotide variant (intron variant)	Loeys-Dietz syndrome 2 +5 more	GConflicting classifications of pathogenicity
Select item 921249	NM_003242.6(TGFBR2):c.103G>A (p.Asp35Asn)	TGFBR2 (D60N +2 more)	Single nucleotide variant (missense variant)	Diabetic retinopathy +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)	not provided +5 more	GLikely benign
Select item 213938	NM_003242.6(TGFBR2):c.115A>T (p.Thr39Ser)	TGFBR2 (T39S +3 more)	Single nucleotide variant (missense variant)	Diabetic retinopathy +2 more	GConflicting classifications of pathogenicity
Select item 239526	NM_003242.6(TGFBR2):c.116C>A (p.Thr39Asn)	TGFBR2 (T39N +3 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +6 more	GUncertain significance/Uncertain risk allele
Select item 920145	NM_003242.6(TGFBR2):c.125A>G (p.Asn42Ser)	TGFBR2 (N67S +3 more)	Single nucleotide variant (missense variant)	Diabetic retinopathy +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)	Loeys-Dietz syndrome 2 +2 more	GLikely benign
Select item 745971	NM_003242.6(TGFBR2):c.135C>T (p.Val45=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 924519	NM_003242.6(TGFBR2):c.136A>G (p.Lys46Glu)	TGFBR2 (K71E +3 more)	Single nucleotide variant (missense variant)	Diabetic retinopathy +1 more	GConflicting classifications of pathogenicity
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 576570	NM_003242.6(TGFBR2):c.151T>C (p.Cys51Arg)	TGFBR2 (C51R +3 more)	Single nucleotide variant (missense variant)	Diabetic retinopathy +1 more	GConflicting classifications of pathogenicity
Select item 922846	NM_003242.6(TGFBR2):c.156A>G (p.Lys52=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Diabetic retinopathy +1 more	GLikely benign
Select item 567975	NM_003242.6(TGFBR2):c.175T>C (p.Ser59Pro)	TGFBR2 (S59P +3 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance/Uncertain risk allele
Select item 922450	NM_003242.6(TGFBR2):c.188A>G (p.Asn63Ser)	TGFBR2 (N63S +3 more)	Single nucleotide variant (missense variant)	Diabetic retinopathy +1 more	GUncertain significance/Uncertain risk allele
Select item 2920260	NM_003242.6(TGFBR2):c.202A>G (p.Met68Val)	TGFBR2 (M33V +3 more)	Single nucleotide variant (missense variant +1 more)	Loeys-Dietz syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 629708	NM_003242.6(TGFBR2):c.207C>T (p.Ser69=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
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 414976	NM_003242.6(TGFBR2):c.222C>T (p.Thr74=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 3220876	NM_003242.6(TGFBR2):c.261A>C (p.Val87=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Diabetic retinopathy	GLikely benign
Select item 420496	NM_003242.6(TGFBR2):c.263+7_263+9delinsGAC	TGFBR2	Indel (intron variant)	Diabetic retinopathy +1 more	GLikely benign
Select item 683997	NM_003242.6(TGFBR2):c.264-289G>A	TGFBR2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 259012	NM_003242.6(TGFBR2):c.264-35T>G	TGFBR2	Single nucleotide variant (intron variant)	Diabetic retinopathy +2 more	GBenign/Likely benign
Select item 925727	NM_003242.6(TGFBR2):c.264-11C>T	TGFBR2	Single nucleotide variant (intron variant)	Diabetic retinopathy +1 more	GLikely benign
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 543906	NM_003242.6(TGFBR2):c.264-5T>G	TGFBR2	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 629218	NM_003242.6(TGFBR2):c.272A>C (p.Asn91Thr)	TGFBR2 (N116T +3 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance/Uncertain risk allele
Select item 706875	NM_003242.6(TGFBR2):c.276C>T (p.Asp92=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	TGFBR2-related disorder +3 more	GLikely benign
Select item 920483	NM_003242.6(TGFBR2):c.277G>A (p.Glu93Lys)	TGFBR2 (E93K +3 more)	Single nucleotide variant (missense variant)	Diabetic retinopathy +2 more	GConflicting classifications of pathogenicity
Select item 1043804	NM_003242.6(TGFBR2):c.283A>G (p.Ile95Val)	TGFBR2 (I120V +3 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance/Uncertain risk allele
Select item 926495	NM_003242.6(TGFBR2):c.291A>G (p.Leu97=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
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 177827	NM_003242.6(TGFBR2):c.297A>G (p.Thr99=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 1000156	NM_003242.6(TGFBR2):c.305A>G (p.His102Arg)	TGFBR2 (H102R +3 more)	Single nucleotide variant (missense variant)	Diabetic retinopathy +1 more	GConflicting classifications of pathogenicity
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 920653	NM_003242.6(TGFBR2):c.319C>A (p.Pro107Thr)	TGFBR2 (P107T +3 more)	Single nucleotide variant (missense variant)	Diabetic retinopathy +1 more	GConflicting classifications of pathogenicity
Select item 3220878	NM_003242.6(TGFBR2):c.325C>A (p.His109Asn)	TGFBR2 (H109N +3 more)	Single nucleotide variant (missense variant +1 more)	Diabetic retinopathy	GUncertain risk allele
Select item 452265	NM_003242.6(TGFBR2):c.326A>T (p.His109Leu)	TGFBR2 (H109L +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance/Uncertain risk allele
Select item 927079	NM_003242.6(TGFBR2):c.340G>C (p.Glu114Gln)	TGFBR2 (E139Q +3 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2 +4 more	GUncertain significance/Uncertain risk allele
Select item 922847	NM_003242.6(TGFBR2):c.342A>G (p.Glu114=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Diabetic retinopathy +1 more	GConflicting classifications of pathogenicity
Select item 924010	NM_003242.6(TGFBR2):c.352T>C (p.Ser118Pro)	TGFBR2 (S118P +3 more)	Single nucleotide variant (missense variant)	Diabetic retinopathy +1 more	GUncertain significance/Uncertain risk allele
Select item 213939	NM_003242.6(TGFBR2):c.367A>T (p.Met123Leu)	TGFBR2 (M123L +3 more)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 1442459	NM_003242.6(TGFBR2):c.371A>T (p.Lys124Met)	TGFBR2 (K124M +3 more)	Single nucleotide variant (missense variant)	Diabetic retinopathy +1 more	GUncertain significance/Uncertain risk allele
Select item 477545	NM_003242.6(TGFBR2):c.372G>A (p.Lys124=)	TGFBR2	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 1010664	NM_003242.6(TGFBR2):c.385C>G (p.Pro129Ala)	TGFBR2 (P129A +3 more)	Single nucleotide variant (missense variant)	Loeys-Dietz syndrome 2 +2 more	GConflicting classifications of pathogenicity
Select item 3220879	NM_003242.6(TGFBR2):c.389G>A (p.Gly130Asp)	TGFBR2 (G130D +3 more)	Single nucleotide variant (missense variant +1 more)	Diabetic retinopathy	GLikely benign
Select item 543895	NM_003242.6(TGFBR2):c.394A>G (p.Thr132Ala)	TGFBR2 (T132A +3 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +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

<< First< Prev

Page of 2