7048[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 1167240	NC_000003.12:g.30605668A>G	TGFBR2	Single nucleotide variant	Familial thoracic aortic aneurysm and aortic dissection	GBenign
Select item 1191770	NC_000003.12:g.30606225T>G	TGFBR2	Single nucleotide variant	not provided	GLikely benign
Select item 901331	NM_003242.5(TGFBR2):c.-388C>T	TGFBR2	Single nucleotide variant (5 prime UTR variant)	Diabetic retinopathy +1 more	GConflicting classifications of pathogenicity
Select item 344646	NM_003242.6(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 344647	NM_003242.5(TGFBR2):c.-344C>A	TGFBR2	Single nucleotide variant (5 prime UTR variant)	Loeys-Dietz syndrome +2 more	GUncertain significance
Select item 1001410	NM_003242.6(TGFBR2):c.-337T>A	TGFBR2	Single nucleotide variant (genic upstream transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GUncertain significance/Uncertain risk allele
Select item 1329434	NM_001024847.2(TGFBR2):c.-312_-255del	TGFBR2	Deletion (splice donor variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2442854	NM_001024847.2(TGFBR2):c.-315_-23del	LOC129936399, TGFBR2	Deletion (splice donor variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 344648	NM_003242.6(TGFBR2):c.-307C>T	TGFBR2	Single nucleotide variant (genic upstream transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection +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 901872	NM_003242.6(TGFBR2):c.-195G>A	LOC129936399, TGFBR2	Single nucleotide variant (5 prime UTR variant)	Loeys-Dietz syndrome 2	GUncertain significance
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 3029301	NM_003242.6(TGFBR2):c.-66A>G	TGFBR2	Single nucleotide variant (5 prime UTR variant +1 more)	TGFBR2-related disorder	GLikely benign
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 901874	NM_003242.6(TGFBR2):c.-26G>A	TGFBR2	Single nucleotide variant (5 prime UTR variant)	Loeys-Dietz syndrome 2	GUncertain significance
Select item 344655	NM_003242.6(TGFBR2):c.-18C>A	TGFBR2	Single nucleotide variant (5 prime UTR variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2774558	NM_003242.6(TGFBR2):c.-15G>C	TGFBR2	Single nucleotide variant (intron variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
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 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 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 2774559	NM_003242.6(TGFBR2):c.-5C>T	TGFBR2	Single nucleotide variant (5 prime UTR variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	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 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 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 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)	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 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 1769370	NM_003242.6(TGFBR2):c.12G>A (p.Gly4=)	TGFBR2	Single nucleotide variant (synonymous variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
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 1776157	NM_003242.6(TGFBR2):c.15G>T (p.Leu5=)	TGFBR2	Single nucleotide variant (synonymous variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1983788	NM_003242.6(TGFBR2):c.16C>T (p.Leu6Phe)	TGFBR2 (L6F)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2545236	NM_003242.6(TGFBR2):c.17T>C (p.Leu6Pro)	TGFBR2 (L6P)	Single nucleotide variant (missense variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2788829	NM_003242.6(TGFBR2):c.20G>A (p.Arg7Lys)	TGFBR2 (R7K)	Single nucleotide variant (missense variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3339618	NM_003242.6(TGFBR2):c.26T>G (p.Leu9Arg)	TGFBR2 (L9R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
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 1939502	NM_003242.6(TGFBR2):c.31C>T (p.Pro11Ser)	TGFBR2 (P11S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	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 809440	NM_003242.6(TGFBR2):c.33G>T (p.Pro11=)	TGFBR2	Single nucleotide variant (synonymous variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 2714446	NM_003242.6(TGFBR2):c.37C>A (p.His13Asn)	TGFBR2 (H13N)	Single nucleotide variant (missense variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3325723	NM_003242.6(TGFBR2):c.39C>A (p.His13Gln)	TGFBR2 (H13Q)	Single nucleotide variant (missense variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2008899	NM_003242.6(TGFBR2):c.42C>A (p.Ile14=)	TGFBR2	Single nucleotide variant (synonymous variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1310697	NM_003242.6(TGFBR2):c.42C>G (p.Ile14Met)	TGFBR2 (I14M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 923189	NM_003242.6(TGFBR2):c.43G>A (p.Val15Ile)	TGFBR2 (V15I)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
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 2875193	NM_003242.6(TGFBR2):c.53C>T (p.Thr18Met)	TGFBR2 (T18M)	Single nucleotide variant (missense variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
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 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 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 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 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 3023063	NM_003242.6(TGFBR2):c.68C>G (p.Thr23Arg)	TGFBR2 (T23R)	Single nucleotide variant (missense variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2199066	NM_003242.6(TGFBR2):c.69G>C (p.Thr23=)	TGFBR2	Single nucleotide variant (synonymous variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
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 1315434	NM_003242.6(TGFBR2):c.70A>T (p.Ile24Phe)	TGFBR2 (I24F)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
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 1964030	NM_003242.6(TGFBR2):c.78G>T (p.Pro26=)	TGFBR2	Single nucleotide variant (synonymous variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1447012	NM_003242.6(TGFBR2):c.78_79delinsAA (p.His27Asn)	TGFBR2 (H27N)	Indel (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	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 2626271	NM_003242.6(TGFBR2):c.87G>T (p.Gln29His)	TGFBR2 (Q29H)	Single nucleotide variant (missense variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1622023	NM_003242.6(TGFBR2):c.87G>A (p.Gln29=)	TGFBR2	Single nucleotide variant (synonymous variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
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 1355280	NM_003242.6(TGFBR2):c.94G>T (p.Val32Phe)	TGFBR2 (D32Y +2 more)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 918998	NM_003242.6(TGFBR2):c.94+6T>G	TGFBR2	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 1711568	NM_003242.6(TGFBR2):c.94+7G>C	TGFBR2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2956507	NM_003242.6(TGFBR2):c.94+12C>A	TGFBR2	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2708572	NM_003242.6(TGFBR2):c.94+12C>T	TGFBR2	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2895606	NM_003242.6(TGFBR2):c.94+18C>T	TGFBR2	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2975969	NM_003242.6(TGFBR2):c.94+20G>T	TGFBR2	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1326799	NM_003242.6(TGFBR2):c.94+40G>T	TGFBR2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2688032	NM_003242.6(TGFBR2):c.94+7699G>A	TGFBR2 (G6S)	Single nucleotide variant (missense variant +1 more)	not specified	GBenign
Select item 1247090	NM_003242.6(TGFBR2):c.94+15937GAAAAA[2]	TGFBR2	Microsatellite (intron variant)	not provided	GBenign
Select item 60054	GRCh38/hg38 3p24.1(chr3:30623003-30666517)x1	TGFBR2	Copy number loss	See cases	GUncertain significance
Select item 57725	GRCh38/hg38 3p24.1(chr3:30623003-30656356)x3	TGFBR2	Copy number gain	See cases	GUncertain significance
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)	Malignant tumor of esophagus +6 more	GBenign/Likely benign

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