ClinVar for MedGen (Select 450537) - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366496	NM_000090.4(COL3A1):c.3275G>C (p.Gly1092Ala)	COL3A1 (G1092A)	Single nucleotide variant (missense variant)	Familial aortopathy	GLikely pathogenic
Select item 3251596	NM_001999.4(FBN2):c.7594+2T>C	FBN2	Single nucleotide variant (splice donor variant)	Familial aortopathy	GLikely pathogenic
Select item 3069051	NM_005902.4(SMAD3):c.658+1G>A	SMAD3	Single nucleotide variant (splice donor variant)	Familial aortopathy	GLikely pathogenic
Select item 3068796	NM_053025.4(MYLK):c.2105del (p.Gly702fs)	MYLK (G526fs +2 more)	Deletion (frameshift variant)	Familial aortopathy	GPathogenic
Select item 3063980	NM_000090.4(COL3A1):c.2282_2446-56del	COL3A1, LOC126806446	Deletion (splice acceptor variant +1 more)	Familial aortopathy	GPathogenic
Select item 3063605	NM_000090.4(COL3A1):c.2282_2446-52del	COL3A1, LOC126806446	Deletion (splice acceptor variant +1 more)	Familial aortopathy	GPathogenic
Select item 2951150	NM_000138.5(FBN1):c.700G>T (p.Gly234Cys)	FBN1 (G234C)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely pathogenic
Select item 2886107	NM_000090.4(COL3A1):c.3085G>T (p.Gly1029Cys)	COL3A1 (G1029C)	Single nucleotide variant (missense variant)	Familial aortopathy +1 more	GLikely pathogenic
Select item 2757881	NM_000090.4(COL3A1):c.3014G>C (p.Gly1005Ala)	COL3A1 (G1005A)	Single nucleotide variant (missense variant)	Familial aortopathy +1 more	GLikely pathogenic
Select item 2501291	NM_030777.4(SLC2A10):c.899T>G (p.Leu300Trp)	SLC2A10 (L300W)	Single nucleotide variant (missense variant)	Arterial tortuosity syndrome +1 more	GLikely pathogenic
Select item 2501127	NM_001711.6(BGN):c.75G>A (p.Trp25Ter)	BGN (W25*)	Single nucleotide variant (nonsense)	Familial aortopathy +1 more	GLikely pathogenic
Select item 1878230	NC_000005.9:g.(127648488_127653840)_(127654694_127664387)del	FBN2	Deletion	Familial aortopathy	GLikely pathogenic
Select item 1804164	NM_001126108.2(SLC12A3):c.[1315G>A];[2856+1G>T]			Familial hypokalemia-hypomagnesemia	GPathogenic
Select item 1013454	NM_030777.4(SLC2A10):c.254T>C (p.Leu85Pro)	SLC2A10 (L85P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 933623	NM_030777.4(SLC2A10):c.1465G>C (p.Gly489Arg)	SLC2A10 (G489R)	Single nucleotide variant (missense variant)	Familial aortopathy +1 more	GPathogenic/Likely pathogenic
Select item 917703	NM_003238.6(TGFB2):c.1086+2T>C	TGFB2	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 846467	NM_000090.4(COL3A1):c.3121G>C (p.Gly1041Arg)	COL3A1 (G1041R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +1 more	GLikely pathogenic
Select item 650847	NM_000090.4(COL3A1):c.937_938dup (p.Pro314fs)	COL3A1 (P314fs)	Duplication (frameshift variant)	Ehlers-Danlos syndrome, type 4 +1 more	GPathogenic/Likely pathogenic
Select item 633179	NM_000090.4(COL3A1):c.447+1G>A	COL3A1	Single nucleotide variant (splice donor variant)	Familial aortopathy	GLikely pathogenic
Select item 633178	NM_000090.4(COL3A1):c.1106G>T (p.Gly369Val)	COL3A1 (G369V)	Single nucleotide variant (missense variant)	Familial aortopathy	GLikely pathogenic
Select item 632911	NM_002474.3(MYH11):c.4825C>T (p.Arg1609Ter)	MYH11, NDE1 (R1609* +1 more)	Single nucleotide variant (nonsense +1 more)	Familial aortopathy +1 more	GConflicting classifications of pathogenicity
Select item 620443	NM_005902.4(SMAD3):c.754C>T (p.Gln252Ter)	SMAD3 (Q252* +3 more)	Single nucleotide variant (nonsense)	Familial aortopathy +2 more	GPathogenic/Likely pathogenic
Select item 586601	NM_001126108.2(SLC12A3):c.1315G>A (p.Gly439Ser)	SLC12A3 (G439S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic
Select item 549193	NM_000138.5(FBN1):c.3915C>A (p.Cys1305Ter)	FBN1 (C1305*)	Single nucleotide variant (nonsense)	Familial aortopathy	GLikely pathogenic
Select item 426754	NM_000393.5(COL5A2):c.3422A>C (p.Gln1141Pro)	COL5A2 (Q1141P)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +3 more	GConflicting classifications of pathogenicity
Select item 408572	NM_004612.4(TGFBR1):c.700T>C (p.Phe234Leu)	TGFBR1 (F234L +2 more)	Single nucleotide variant (missense variant)	Familial aortopathy +1 more	GPathogenic/Likely pathogenic
Select item 381616	NM_000090.4(COL3A1):c.811C>T (p.Arg271Ter)	COL3A1 (R271*)	Single nucleotide variant (nonsense)	Familial aortopathy +3 more	GPathogenic
Select item 265026	NM_001613.4(ACTA2):c.535C>T (p.Arg179Cys)	ACTA2 (R179C +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 213882	NM_004612.4(TGFBR1):c.934G>A (p.Gly312Ser)	TGFBR1 (G312S +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 213845	NM_003238.6(TGFB2):c.895C>T (p.Arg299Trp)	TGFB2 (R299W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 213761	NM_005902.4(SMAD3):c.728G>A (p.Arg243His)	SMAD3 (R243H +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 199979	NM_000138.5(FBN1):c.1817C>A (p.Ser606Ter)	FBN1 (S606*)	Single nucleotide variant (nonsense)	Familial aortopathy +2 more	GPathogenic/Likely pathogenic
Select item 199753	NM_000090.4(COL3A1):c.4087C>T (p.Arg1363Ter)	COL3A1 (R1363*)	Single nucleotide variant (nonsense)	Ehlers-Danlos syndrome, type 4 +2 more	GPathogenic/Likely pathogenic
Select item 199666	NM_001613.4(ACTA2):c.116G>A (p.Arg39His)	ACTA2 (R39H)	Single nucleotide variant (missense variant)	Aortic aneurysm, familial thoracic 6 +3 more	GPathogenic/Likely pathogenic
Select item 161104	NM_030777.4(SLC2A10):c.313C>T (p.Arg105Cys)	SLC2A10 (R105C)	Single nucleotide variant (missense variant)	Familial aortopathy +4 more	GConflicting classifications of pathogenicity
Select item 101467	NM_000090.4(COL3A1):c.3103G>T (p.Gly1035Cys)	COL3A1	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +1 more	GLikely pathogenic
Select item 65449	NM_001613.4(ACTA2):c.115C>T (p.Arg39Cys)	ACTA2 (R39C)	Single nucleotide variant (missense variant)	See cases +4 more	GPathogenic/Likely pathogenic
Select item 36626	NM_002474.3(MYH11):c.5295+13T>C	MYH11, NDE1	Single nucleotide variant (intron variant)	Familial aortopathy	GUncertain significance
Select item 36625	NM_002474.3(MYH11):c.5172-14C>T	MYH11, NDE1	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4 +6 more	GBenign/Likely benign
Select item 36623	NM_002474.3(MYH11):c.4954-16del	MYH11, NDE1	Deletion (intron variant)	Familial aortopathy	GUncertain significance
Select item 36621	NM_002474.3(MYH11):c.4770G>A (p.Lys1590=)	MYH11, NDE1	Single nucleotide variant (synonymous variant +1 more)	not specified +5 more	GBenign/Likely benign
Select item 36620	NM_002474.3(MYH11):c.3816G>A (p.Glu1272=)	MYH11	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 4 +3 more	GConflicting classifications of pathogenicity
Select item 36619	NM_002474.3(MYH11):c.3652-6C>T	MYH11	Single nucleotide variant (intron variant)	Aortic aneurysm, familial thoracic 4 +5 more	GBenign/Likely benign
Select item 36617	NM_002474.3(MYH11):c.2412-9C>A	MYH11	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GBenign/Likely benign
Select item 36616	NM_002474.3(MYH11):c.2208C>T (p.Ile736=)	MYH11	Single nucleotide variant (synonymous variant)	Aortic aneurysm, familial thoracic 4 +5 more	GBenign
Select item 35965	NM_000090.4(COL3A1):c.696A>G (p.Glu232=)	COL3A1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, type 4 +3 more	GLikely benign
Select item 35964	NM_000090.4(COL3A1):c.2035G>A (p.Ala679Thr)	COL3A1 (A679T)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign/Likely benign
Select item 35963	NM_000090.4(COL3A1):c.1816-19T>C	COL3A1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 35962	NM_000090.4(COL3A1):c.1691G>C (p.Gly564Ala)	COL3A1 (G564A)	Single nucleotide variant (missense variant)	Familial aortopathy	GLikely pathogenic
Select item 35961	NM_000090.4(COL3A1):c.1293+15T>A	COL3A1	Single nucleotide variant (intron variant)	Familial aortopathy +3 more	GBenign
Select item 35644	NM_001613.4(ACTA2):c.455-17G>A	ACTA2	Single nucleotide variant (intron variant)	Familial aortopathy +3 more	GBenign
Select item 10236	NM_000132.4(F8):c.1834C>T (p.Arg612Cys)	F8 (R612C)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic FDA Recognized database

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Items: 52