C4707243[trait identifier] AND "Centre for Genomic and Experimental Me - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 517127	NM_000090.4(COL3A1):c.536del (p.Pro179fs)	COL3A1 (P179fs)	Deletion (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 517129	NM_000090.4(COL3A1):c.1178G>A (p.Gly393Asp)	COL3A1 (G393D)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 424523	NM_000090.4(COL3A1):c.1204G>A (p.Gly402Ser)	COL3A1 (G402S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 17225	NM_000090.4(COL3A1):c.1744G>A (p.Gly582Ser)	COL3A1	Single nucleotide variant (missense variant)	COL3A1-related disorder +3 more	GPathogenic
Select item 517119	NM_000393.5(COL5A2):c.3275G>A (p.Gly1092Asp)	COL5A2 (G1092D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 2 +1 more	GUncertain significance
Select item 517132	NM_000393.5(COL5A2):c.808G>A (p.Gly270Ser)	COL5A2 (G270S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 2	GUncertain significance
Select item 213934	NM_003242.6(TGFBR2):c.1489C>T (p.Arg497Ter)	TGFBR2 (R497* +10 more)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic
Select item 517118	NM_003242.6(TGFBR2):c.1524+1G>T	TGFBR2	Single nucleotide variant (splice donor variant)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 12507	NM_003242.6(TGFBR2):c.1609C>T (p.Arg537Cys)	TGFBR2 (R537C +10 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 30133	NM_053025.4(MYLK):c.5275T>C (p.Ser1759Pro)	MYLK, MYLK-AS1 (S1759P +4 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 7 +1 more	GPathogenic/Likely pathogenic
Select item 517131	NM_053025.4(MYLK):c.2390+2T>C	MYLK	Single nucleotide variant (splice donor variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 517136	NM_004612.4(TGFBR1):c.974-2A>G	TGFBR1	Single nucleotide variant (splice acceptor variant)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 517121	NM_004612.4(TGFBR1):c.1255+1G>A	TGFBR1	Single nucleotide variant (splice donor variant)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 517134	NM_000093.5(COL5A1):c.2504G>C (p.Gly835Ala)	COL5A1 (G835A)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 517128	NM_000138.5(FBN1):c.8504dup (p.Leu2836fs)	FBN1 (L2836fs)	Duplication (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 517125	NM_000138.5(FBN1):c.7956T>A (p.Cys2652Ter)	FBN1 (C2652*)	Single nucleotide variant (nonsense)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 517133	NM_000138.5(FBN1):c.7788C>A (p.Tyr2596Ter)	FBN1 (Y2596*)	Single nucleotide variant (nonsense)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic
Select item 200171	NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs)	FBN1	Deletion (frameshift variant)	not provided +4 more	GPathogenic
Select item 517117	NM_000138.5(FBN1):c.6402dup (p.Asp2135fs)	FBN1 (D2135fs)	Duplication (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 517120	NM_000138.5(FBN1):c.5917+6T>C	FBN1	Single nucleotide variant (intron variant)	Marfan syndrome +1 more	GPathogenic/Likely pathogenic
Select item 517116	NM_000138.5(FBN1):c.5235_5236dup (p.Thr1746fs)	FBN1 (T1746fs)	Duplication (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 42361	NM_000138.5(FBN1):c.4406G>C (p.Arg1469Pro)	FBN1 (R1469P)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 36064	NM_000138.5(FBN1):c.3193del (p.Glu1065fs)	FBN1 (E1065fs)	Deletion (frameshift variant)	Marfan syndrome +1 more	GPathogenic/Likely pathogenic
Select item 42324	NM_000138.5(FBN1):c.3012C>G (p.Tyr1004Ter)	FBN1 (Y1004*)	Single nucleotide variant (nonsense)	Marfan syndrome +2 more	GPathogenic/Likely pathogenic
Select item 517122	NM_000138.5(FBN1):c.2896G>T (p.Glu966Ter)	FBN1 (E966*)	Single nucleotide variant (nonsense)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic
Select item 200001	NM_000138.5(FBN1):c.2645C>T (p.Ala882Val)	FBN1 (A882V)	Single nucleotide variant (missense variant)	not specified +11 more	GPathogenic/Likely pathogenic
Select item 265401	NM_000138.5(FBN1):c.2581C>T (p.Arg861Ter)	FBN1 (R861*)	Single nucleotide variant (nonsense)	Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections +12 more	GPathogenic/Likely pathogenic
Select item 517123	NM_000138.5(FBN1):c.2554_2555dup (p.Cys853fs)	FBN1 (C853fs)	Duplication (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
Select item 199995	NM_000138.5(FBN1):c.2306G>A (p.Cys769Tyr)	FBN1 (C769Y)	Single nucleotide variant (missense variant)	Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections +2 more	GPathogenic/Likely pathogenic
Select item 517130	NM_000138.5(FBN1):c.2168-1G>T	FBN1	Single nucleotide variant (splice acceptor variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic
Select item 42284	NM_000138.5(FBN1):c.1468+5G>A	FBN1	Single nucleotide variant (intron variant)	Progeroid and marfanoid aspect-lipodystrophy syndrome +10 more	GPathogenic/Likely pathogenic
Select item 517124	NM_000138.5(FBN1):c.1422T>G (p.Cys474Trp)	FBN1 (C474W)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 199963	NM_000138.5(FBN1):c.1090C>T (p.Arg364Ter)	FBN1, LOC113939944 (R364*)	Single nucleotide variant (nonsense)	Isolated thoracic aortic aneurysm +5 more	GPathogenic/Likely pathogenic
Select item 517135	NM_000138.5(FBN1):c.626G>A (p.Cys209Tyr)	FBN1 (C209Y)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 161245	NM_000138.5(FBN1):c.59A>G (p.Tyr20Cys)	FBN1, LOC130057019 (Y20C)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significanceFDA Recognized database
Select item 161316	NM_002474.3(MYH11):c.5273G>A (p.Arg1758Gln)	MYH11, NDE1 (R1758Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 36622	NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln)	MYH11, NDE1 (K1628Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GUncertain significance
Select item 517126	NM_002474.3(MYH11):c.1A>G (p.Met1Val)	MYH11 (M1V)	Single nucleotide variant (missense variant +1 more)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 35918	NM_000088.4(COL1A1):c.2932C>T (p.Pro978Ser)	COL1A1 (P978S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +8 more	GConflicting classifications of pathogenicity
Select item 35897	NM_000088.4(COL1A1):c.1042G>A (p.Ala348Thr)	COL1A1 (A348T)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 4590	NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp)	SLC2A10 (R132W)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 467819	NM_030777.4(SLC2A10):c.648C>G (p.Tyr216Ter)	SLC2A10 (Y216*)	Single nucleotide variant (nonsense)	Arterial tortuosity syndrome +1 more	GPathogenic/Likely pathogenic

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Items: 42