ClinVar for Gene (Select 59) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 618

<< First< Prev

Page of 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3076155	NM_001613.4(ACTA2):c.455-9G>A	ACTA2	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3075545	NM_001613.4(ACTA2):c.185G>C (p.Ser62Thr)	ACTA2 (S62T)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3075544	NM_001613.4(ACTA2):c.438C>G (p.Ala146=)	ACTA2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3075543	NM_001613.4(ACTA2):c.535_536insTGGCAT (p.Arg179delinsLeuAlaCys)	ACTA2	Insertion (inframe_indel)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3075542	NM_001613.4(ACTA2):c.638A>G (p.Asp213Gly)	ACTA2-AS1, ACTA2 (D170G +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3075541	NM_001613.4(ACTA2):c.756C>A (p.Ile252=)	ACTA2, ACTA2-AS1	Single nucleotide variant (synonymous variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3075540	NM_001613.4(ACTA2):c.807C>A (p.Ile269=)	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3075539	NM_001613.4(ACTA2):c.872T>A (p.Ile291Asn)	ACTA2-AS1, ACTA2 (I227N +3 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3075538	NM_001613.4(ACTA2):c.945G>A (p.Met315Ile)	ACTA2, ACTA2-AS1 (M251I +3 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3075537	NM_001613.4(ACTA2):c.966A>C (p.Leu322=)	ACTA2, ACTA2-AS1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3075536	NM_001613.4(ACTA2):c.968C>T (p.Ala323Val)	ACTA2-AS1, ACTA2 (A259V +3 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3075535	NM_001613.4(ACTA2):c.976A>G (p.Thr326Ala)	ACTA2, ACTA2-AS1 (T262A +3 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3075534	NM_001613.4(ACTA2):c.1101C>T (p.Ala367=)	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3075533	NM_001613.4(ACTA2):c.1115T>C (p.Val372Ala)	ACTA2, ACTA2-AS1 (V308A +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3075040	NM_001613.4(ACTA2):c.42T>C (p.Asn14=)	ACTA2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3074151	NM_001613.4(ACTA2):c.1095T>G (p.Asp365Glu)	ACTA2-AS1, ACTA2 (D301E +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3073511	NM_001613.4(ACTA2):c.99C>T (p.Phe33=)	ACTA2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3073497	NM_001613.4(ACTA2):c.1004C>T (p.Pro335Leu)	ACTA2, ACTA2-AS1 (P271L +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3073484	NM_001613.4(ACTA2):c.130-4T>C	ACTA2	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3073458	NM_001613.4(ACTA2):c.1093G>A (p.Asp365Asn)	ACTA2, ACTA2-AS1 (D301N +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3073384	NM_001613.4(ACTA2):c.63C>A (p.Ala21=)	ACTA2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3073221	NM_001613.4(ACTA2):c.954G>A (p.Glu318=)	ACTA2, ACTA2-AS1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3072721	NM_001613.4(ACTA2):c.821C>T (p.Ala274Val)	ACTA2, ACTA2-AS1 (A210V +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3072687	NM_001613.4(ACTA2):c.*3C>T	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3072594	NM_001613.4(ACTA2):c.1003C>A (p.Pro335Thr)	ACTA2, ACTA2-AS1 (P271T +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3071986	NM_001613.4(ACTA2):c.370-13dup	ACTA2	Duplication (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3071963	NM_001613.4(ACTA2):c.871A>G (p.Ile291Val)	ACTA2-AS1, ACTA2 (I227V +3 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3071908	NM_001613.4(ACTA2):c.89G>A (p.Arg30Lys)	ACTA2 (R30K)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3071572	NM_001613.4(ACTA2):c.316C>T (p.Leu106=)	ACTA2	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3071479	NM_001613.4(ACTA2):c.463C>A (p.Leu155Met)	ACTA2 (L112M +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3071413	NM_001613.4(ACTA2):c.129+1G>A	ACTA2	Single nucleotide variant (splice donor variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3071352	NM_001613.4(ACTA2):c.537T>G (p.Arg179=)	ACTA2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3071301	NM_001613.4(ACTA2):c.83C>A (p.Ala28Asp)	ACTA2 (A28D)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3071247	NM_001613.4(ACTA2):c.129+3G>A	ACTA2	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3071000	NM_001613.4(ACTA2):c.-4A>G	ACTA2	Single nucleotide variant (5 prime UTR variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3070650	NM_001613.4(ACTA2):c.728A>G (p.Glu243Gly)	ACTA2, ACTA2-AS1 (E200G +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3070516	NM_001613.4(ACTA2):c.702C>T (p.Ser234=)	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3069840	NM_001613.4(ACTA2):c.991-16del	ACTA2, ACTA2-AS1	Deletion (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3063146	GRCh37/hg19 10q23.31-23.32(chr10:89950990-92959893)x3	ACTA2, ANKRD1 +24 more	Copy number gain	not specified	GUncertain significance
Select item 3063140	GRCh37/hg19 10q23.2-23.32(chr10:88121043-93641582)x1	ACTA2, ADIRF +46 more	Copy number loss	not specified	GPathogenic
Select item 3050852	NM_001613.4(ACTA2):c.861T>C (p.Cys287=)	ACTA2, ACTA2-AS1	Single nucleotide variant (synonymous variant)	ACTA2-related condition	GLikely benign
Select item 3026861	NM_001613.4(ACTA2):c.169G>A (p.Gly57Ser)	ACTA2 (G57S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3021067	NM_001613.4(ACTA2):c.124C>T (p.His42Tyr)	ACTA2 (H42Y)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 3019090	NM_001613.4(ACTA2):c.369+19C>A	ACTA2	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 3017219	NM_001613.4(ACTA2):c.51G>A (p.Gly17=)	ACTA2	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 3015057	NM_001613.4(ACTA2):c.405T>C (p.Tyr135=)	ACTA2	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 3013379	NM_001613.4(ACTA2):c.20G>A (p.Ser7Asn)	ACTA2 (S7N)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 3004983	NM_001613.4(ACTA2):c.454+17G>T	ACTA2	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 3004961	NM_001613.4(ACTA2):c.990+17del	ACTA2, ACTA2-AS1	Deletion (intron variant)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2996876	NM_001613.4(ACTA2):c.618T>C (p.Ala206=)	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2995217	NM_001613.4(ACTA2):c.548C>G (p.Ala183Gly)	ACTA2 (A140G +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 2994657	NM_001613.4(ACTA2):c.369+13C>A	ACTA2	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2984788	NM_001613.4(ACTA2):c.455-3C>A	ACTA2	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 2982841	NM_001613.4(ACTA2):c.369+11T>C	ACTA2	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2976207	NM_001613.4(ACTA2):c.454+14C>A	ACTA2	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2973588	NM_001613.4(ACTA2):c.900C>G (p.Val300=)	ACTA2, ACTA2-AS1	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2973216	NM_001613.4(ACTA2):c.342C>A (p.Pro114=)	ACTA2	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2972665	NM_001613.4(ACTA2):c.952G>A (p.Glu318Lys)	ACTA2, ACTA2-AS1 (E275K +3 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 2919448	NM_001613.4(ACTA2):c.370-4G>T	ACTA2	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2919230	NM_001613.4(ACTA2):c.991-17T>G	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2911389	NM_001613.4(ACTA2):c.616+18T>C	ACTA2	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2911132	NM_001613.4(ACTA2):c.588T>G (p.Thr196=)	ACTA2	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2907311	NM_001613.4(ACTA2):c.991-20T>A	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2899248	NM_001613.4(ACTA2):c.108T>A (p.Ile36=)	ACTA2	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 2892719	NM_001613.4(ACTA2):c.809-20G>A	ACTA2, ACTA2-AS1	Single nucleotide variant (intron variant +1 more)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2892457	NM_001613.4(ACTA2):c.148G>A (p.Gly50Arg)	ACTA2 (G50R)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 2888842	NM_001613.4(ACTA2):c.919A>G (p.Met307Val)	ACTA2, ACTA2-AS1 (M243V +3 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 2880030	NM_001613.4(ACTA2):c.481G>A (p.Val161Ile)	ACTA2 (V118I +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 2873630	NM_001613.4(ACTA2):c.840C>A (p.Thr280=)	ACTA2, ACTA2-AS1	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2865935	NM_001613.4(ACTA2):c.1058C>T (p.Thr353Ile)	ACTA2, ACTA2-AS1 (T289I +3 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 2865246	NM_001613.4(ACTA2):c.290G>C (p.Arg97Pro)	ACTA2 (R54P +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 2863563	NM_001613.4(ACTA2):c.983_985del (p.Lys328del)	ACTA2, ACTA2-AS1 (K328del +3 more)	Deletion (inframe_indel +1 more)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 2863231	NM_001613.4(ACTA2):c.523del (p.His175fs)	ACTA2 (H175fs +2 more)	Deletion (frameshift variant)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 2861913	NM_001613.4(ACTA2):c.259-20T>C	ACTA2	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2857913	NM_001613.4(ACTA2):c.1109C>A (p.Ser370Tyr)	ACTA2, ACTA2-AS1 (S306Y +3 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 2846175	NM_001613.4(ACTA2):c.809-9C>G	ACTA2, ACTA2-AS1	Single nucleotide variant (intron variant +1 more)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2845532	NM_001613.4(ACTA2):c.370-14G>A	ACTA2	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 2836781	NM_000043.6(FAS):c.30+14_30+18dup	ACTA2, FAS	Duplication (5 prime UTR variant +1 more)	Autoimmune lymphoproliferative syndrome type 1	GLikely benign
Select item 2832896	NM_001613.4(ACTA2):c.883C>A (p.Leu295Ile)	ACTA2, ACTA2-AS1 (L231I +3 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 2818705	NM_001613.4(ACTA2):c.1044G>C (p.Leu348=)	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2818211	NM_001613.4(ACTA2):c.710C>A (p.Ser237Tyr)	ACTA2, ACTA2-AS1 (S194Y +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 2816505	NM_001613.4(ACTA2):c.455-18C>G	ACTA2	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2815303	NM_001613.4(ACTA2):c.927T>C (p.Pro309=)	ACTA2, ACTA2-AS1	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2788699	NM_001613.4(ACTA2):c.96T>C (p.Val32=)	ACTA2	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2783327	NM_001613.4(ACTA2):c.837C>A (p.Thr279=)	ACTA2, ACTA2-AS1	Single nucleotide variant (synonymous variant +1 more)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2783080	NM_001613.4(ACTA2):c.259-12C>A	ACTA2	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2774847	NM_001613.4(ACTA2):c.13G>A (p.Glu5Lys)	ACTA2 (E5K)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2774793	NM_001613.4(ACTA2):c.141G>A (p.Val47=)	ACTA2	Single nucleotide variant (synonymous variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2774787	NM_001613.4(ACTA2):c.166G>A (p.Val56Met)	ACTA2 (V56M)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2773591	NM_001613.4(ACTA2):c.768T>C (p.Arg256=)	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2773308	NM_001613.4(ACTA2):c.819T>G (p.Ser273=)	ACTA2, ACTA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2772057	NM_001613.4(ACTA2):c.914C>T (p.Thr305Ile)	ACTA2, ACTA2-AS1 (T241I +3 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 2767190	NM_001613.4(ACTA2):c.613A>G (p.Thr205Ala)	ACTA2 (T162A +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 2764674	NM_001613.4(ACTA2):c.1102G>T (p.Gly368Trp)	ACTA2, ACTA2-AS1 (G304W +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 2763903	NM_001613.4(ACTA2):c.917C>A (p.Thr306Asn)	ACTA2, ACTA2-AS1 (T242N +3 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 2761002	NM_001613.4(ACTA2):c.408G>A (p.Val136=)	ACTA2	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 6	GLikely benign
Select item 2756936	NM_001613.4(ACTA2):c.466G>C (p.Asp156His)	ACTA2 (D113H +2 more)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 2748635	NM_001613.4(ACTA2):c.949_951del (p.Lys317del)	ACTA2, ACTA2-AS1 (K317del +3 more)	Deletion (inframe_deletion)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 2746137	NM_001613.4(ACTA2):c.454+3A>G	ACTA2	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 6	GUncertain significance
Select item 2743726	NM_001613.4(ACTA2):c.36T>A (p.Cys12Ter)	ACTA2 (C12*)	Single nucleotide variant (nonsense)	Aortic aneurysm, familial thoracic 6	GUncertain significance

<< First< Prev

Page of 7