6904[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 145403	GRCh38/hg38 2p12-11.2(chr2:77025216-90282666)x3	ATOH8, C2orf68 +302 more	Copy number gain	See cases	GPathogenic
Select item 153632	GRCh38/hg38 2p11.2(chr2:85014686-88826619)x1	ATOH8, C2orf68 +179 more	Copy number loss	See cases	GPathogenic
Select item 1316600	NC_000002.12:g.85538732C>T	LOC129934213, MAT2A +1 more	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 1317699	NC_000002.12:g.85538814G>T	MAT2A, PARTICL	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 679475	NM_005911.5(MAT2A):c.-132G>A	LOC129934215, MAT2A	Single nucleotide variant	not provided	GLikely benign
Select item 678527	NM_005911.6(MAT2A):c.-111G>A	LOC129934215, MAT2A	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 391886	NM_005911.6(MAT2A):c.-48C>T	LOC129934215, MAT2A	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 514047	NM_005911.6(MAT2A):c.-35C>T	MAT2A	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 392669	NM_005911.6(MAT2A):c.-35C>G	MAT2A	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 510016	NM_005911.6(MAT2A):c.-22A>G	MAT2A	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 509840	NM_005911.6(MAT2A):c.-18C>T	MAT2A	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GLikely benign
Select item 390941	NM_005911.6(MAT2A):c.-15C>T	MAT2A	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign/Likely benign
Select item 513678	NM_005911.6(MAT2A):c.-7C>T	MAT2A	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 477586	NM_005911.6(MAT2A):c.6C>T (p.Asn2=)	MAT2A	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 951247	NM_005911.6(MAT2A):c.8G>A (p.Gly3Glu)	MAT2A (G3E)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2810725	NM_005911.6(MAT2A):c.11A>G (p.Gln4Arg)	MAT2A (Q4R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 840588	NM_005911.6(MAT2A):c.11A>C (p.Gln4Pro)	MAT2A (Q4P)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1769367	NM_005911.6(MAT2A):c.12G>A (p.Gln4=)	MAT2A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1778322	NM_005911.6(MAT2A):c.16A>C (p.Asn6His)	MAT2A (N6H)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 1780352	NM_005911.6(MAT2A):c.17A>T (p.Asn6Ile)	MAT2A (N6I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1003635	NM_005911.6(MAT2A):c.17A>G (p.Asn6Ser)	MAT2A (N6S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2625412	NM_005911.6(MAT2A):c.21C>T (p.Gly7=)	MAT2A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1400086	NM_005911.6(MAT2A):c.25C>T (p.His9Tyr)	MAT2A (H9Y)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2625413	NM_005911.6(MAT2A):c.28G>C (p.Glu10Gln)	MAT2A (E10Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1727623	NM_005911.6(MAT2A):c.30G>C (p.Glu10Asp)	MAT2A (E10D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 658008	NM_005911.6(MAT2A):c.32C>T (p.Ala11Val)	MAT2A (A11V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2745180	NM_005911.6(MAT2A):c.37A>G (p.Ile13Val)	MAT2A (I13V)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2563185	NM_005911.6(MAT2A):c.39C>G (p.Ile13Met)	MAT2A (I13M)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1743928	NM_005911.6(MAT2A):c.48C>A (p.Gly16=)	MAT2A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1746001	NM_005911.6(MAT2A):c.51A>G (p.Thr17=)	MAT2A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 477584	NM_005911.6(MAT2A):c.54C>T (p.Phe18=)	MAT2A	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1039380	NM_005911.6(MAT2A):c.55C>T (p.Leu19Phe)	MAT2A (L19F)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2563184	NM_005911.6(MAT2A):c.66A>C (p.Ser22=)	MAT2A	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 1758204	NM_005911.6(MAT2A):c.72G>T (p.Ser24=)	MAT2A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1594392	NM_005911.6(MAT2A):c.75C>T (p.Val25=)	MAT2A	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 2090408	NM_005911.6(MAT2A):c.84C>A (p.Gly28=)	MAT2A	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2418898	NM_005911.6(MAT2A):c.91+14C>T	MAT2A	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1980626	NM_005911.6(MAT2A):c.91+17A>C	MAT2A	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3023557	NM_005911.6(MAT2A):c.91+19G>A	MAT2A	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2093557	NM_005911.6(MAT2A):c.91+20C>T	MAT2A	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 674848	NM_005911.6(MAT2A):c.91+44C>T	MAT2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678724	NM_005911.6(MAT2A):c.92-237C>A	MAT2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1230288	NM_005911.6(MAT2A):c.92-63CATA[5]	MAT2A	Microsatellite (intron variant)	not provided	GBenign
Select item 2785884	NM_005911.6(MAT2A):c.92-5dup	MAT2A	Duplication (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GBenign
Select item 2982819	NM_005911.6(MAT2A):c.92-8T>C	MAT2A	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1536233	NM_005911.6(MAT2A):c.92-6T>C	MAT2A	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 477581	NM_005911.6(MAT2A):c.108A>G (p.Gln36=)	MAT2A	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 2625408	NM_005911.6(MAT2A):c.111C>T (p.Ile37=)	MAT2A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1750084	NM_005911.6(MAT2A):c.120T>C (p.Ala40=)	MAT2A	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GBenign/Likely benign
Select item 757761	NM_005911.6(MAT2A):c.141G>A (p.Gln47=)	MAT2A	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1775870	NM_005911.6(MAT2A):c.158A>G (p.Lys53Arg)	MAT2A (K53R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2029318	NM_005911.6(MAT2A):c.169+13T>C	MAT2A	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2092970	NM_005911.6(MAT2A):c.169+19del	MAT2A	Deletion (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 679091	NM_005911.6(MAT2A):c.169+47A>G	MAT2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1389854	NM_005911.6(MAT2A):c.170-11_170-10del	MAT2A	Microsatellite (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2978775	NM_005911.6(MAT2A):c.170-13C>T	MAT2A	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1779380	NM_005911.6(MAT2A):c.174T>C (p.Thr58=)	MAT2A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3225171	NM_005911.6(MAT2A):c.177T>G (p.Val59=)	MAT2A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2176608	NM_005911.6(MAT2A):c.219C>T (p.Ser73=)	MAT2A	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2625409	NM_005911.6(MAT2A):c.246G>A (p.Val82=)	MAT2A	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 1149715	NM_005911.6(MAT2A):c.249T>C (p.Val83=)	MAT2A	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1793221	NM_005911.6(MAT2A):c.256G>A (p.Ala86Thr)	MAT2A (A86T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 2293958	NM_005911.6(MAT2A):c.259G>C (p.Val87Leu)	MAT2A (V87L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3293442	NM_005911.6(MAT2A):c.262A>G (p.Lys88Glu)	MAT2A (K88E)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 739209	NM_005911.6(MAT2A):c.276T>C (p.Tyr92=)	MAT2A	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1487150	NM_005911.6(MAT2A):c.286T>G (p.Ser96Ala)	MAT2A (S96A)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1095720	NM_005911.6(MAT2A):c.288C>T (p.Ser96=)	MAT2A	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2120204	NM_005911.6(MAT2A):c.292+12T>C	MAT2A	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2979704	NM_005911.6(MAT2A):c.292+14A>C	MAT2A	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2747089	NM_005911.6(MAT2A):c.292+17T>C	MAT2A	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 674903	NM_005911.6(MAT2A):c.292+70G>A	MAT2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316409	NM_005911.6(MAT2A):c.293-79T>C	MAT2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317578	NM_005911.6(MAT2A):c.293-47C>T	MAT2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3338894	NM_005911.6(MAT2A):c.293-17G>A	MAT2A	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 507373	NM_005911.6(MAT2A):c.293-15G>T	MAT2A	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 3293440	NM_005911.6(MAT2A):c.300C>T (p.Asp100=)	MAT2A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1716685	NM_005911.6(MAT2A):c.305A>C (p.Lys102Thr)	MAT2A (K102T)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1080932	NM_005911.6(MAT2A):c.315C>T (p.Asn105=)	MAT2A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1468380	NM_005911.6(MAT2A):c.317T>G (p.Val106Gly)	MAT2A (V106G)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 391336	NM_005911.6(MAT2A):c.318G>T (p.Val106=)	MAT2A	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 1729380	NM_005911.6(MAT2A):c.324A>G (p.Val108=)	MAT2A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1091003	NM_005911.6(MAT2A):c.324A>T (p.Val108=)	MAT2A	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GBenign/Likely benign
Select item 1563376	NM_005911.6(MAT2A):c.336A>G (p.Gln112=)	MAT2A	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 1731445	NM_005911.6(MAT2A):c.343C>A (p.Pro115Thr)	MAT2A (P115T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2005920	NM_005911.6(MAT2A):c.374G>A (p.Arg125Lys)	MAT2A (R125K)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 1042927	NM_005911.6(MAT2A):c.377A>G (p.Asn126Ser)	MAT2A (N126S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2956282	NM_005911.6(MAT2A):c.384A>C (p.Glu128Asp)	MAT2A (E128D)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2761073	NM_005911.6(MAT2A):c.405+16G>T	MAT2A	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 2577066	NM_005911.6(MAT2A):c.405+20G>A	MAT2A	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1238568	NM_005911.6(MAT2A):c.405+32T>C	MAT2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 387337	NM_005911.6(MAT2A):c.406-19G>A	MAT2A	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1665188	NM_005911.6(MAT2A):c.406-10_406-8del	MAT2A	Deletion (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 543913	NM_005911.6(MAT2A):c.406-4_406-3dup	MAT2A	Duplication (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 847328	NM_005911.6(MAT2A):c.406-3T>C	MAT2A	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 1739232	NM_005911.6(MAT2A):c.426C>T (p.Ala142=)	MAT2A	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 477582	NM_005911.6(MAT2A):c.438T>C (p.Thr146=)	MAT2A	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1740373	NM_005911.6(MAT2A):c.440A>G (p.Glu147Gly)	MAT2A (E147G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3023529	NM_005911.6(MAT2A):c.444G>A (p.Glu148=)	MAT2A	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 982327	NM_005911.6(MAT2A):c.445T>A (p.Cys149Ser)	MAT2A (C149S)	Single nucleotide variant (missense variant)	Isolated thoracic aortic aneurysm	GUncertain significance

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