C0024796[trait identifier] AND "Blueprint Genetics"[submitter] - ClinVar

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Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 180296	NM_000090.4(COL3A1):c.3326G>A (p.Arg1109Gln)	COL3A1 (R1109Q)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4 +2 more	GUncertain significance
Select item 180305	NM_000393.5(COL5A2):c.3794A>G (p.Asp1265Gly)	COL5A2 (D1265G)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +5 more	GConflicting classifications of pathogenicity
Select item 222528	NM_000393.5(COL5A2):c.463C>T (p.Arg155Cys)	COL5A2 (R155C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, classic type, 2 +3 more	GConflicting classifications of pathogenicity
Select item 213142	NM_000393.5(COL5A2):c.407C>T (p.Pro136Leu)	COL5A2 (P136L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 180541	NM_003242.6(TGFBR2):c.1570G>A (p.Asp524Asn)	TGFBR2 (D524N +10 more)	Single nucleotide variant (missense variant)	Marfan syndrome +3 more	GPathogenic/Likely pathogenic
Select item 222630	NM_001999.4(FBN2):c.7771A>G (p.Thr2591Ala)	FBN2 (T2591A)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 222526	NM_000093.5(COL5A1):c.5217C>A (p.His1739Gln)	COL5A1, LOC101448202 (H1739Q)	Single nucleotide variant (missense variant)	Marfan syndrome +2 more	GConflicting classifications of pathogenicity
Select item 222758	NM_017617.5(NOTCH1):c.6205G>A (p.Ala2069Thr)	NOTCH1 (A2069T)	Single nucleotide variant (missense variant)	Marfan syndrome +5 more	GConflicting classifications of pathogenicity
Select item 155828	NM_017617.5(NOTCH1):c.3901+3G>A	NOTCH1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GConflicting classifications of pathogenicity
Select item 155795	NM_000138.5(FBN1):c.8521G>T (p.Glu2841Ter)	FBN1 (E2841*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 222616	NM_000138.5(FBN1):c.8339T>C (p.Leu2780Pro)	FBN1 (L2780P)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 222615	NM_000138.5(FBN1):c.8148C>G (p.Tyr2716Ter)	FBN1 (Y2716*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 406281	NM_000138.5(FBN1):c.7980C>G (p.Ser2660Arg)	FBN1 (S2660R)	Single nucleotide variant (missense variant)	Marfan syndrome +2 more	GUncertain significance
Select item 636638	NM_000138.5(FBN1):c.7819G>A (p.Asp2607Asn)	FBN1 (D2607N)	Single nucleotide variant (missense variant)	Myopathy +2 more	GLikely pathogenic
Select item 222614	NM_000138.5(FBN1):c.7769G>A (p.Cys2590Tyr)	FBN1 (C2590Y)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GPathogenic/Likely pathogenic
Select item 163462	NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)	FBN1 (I2585T)	Single nucleotide variant (missense variant)	Connective tissue dysplasia +12 more	GPathogenic/Likely pathogenic
Select item 36118	NM_000138.5(FBN1):c.7726C>T (p.Arg2576Cys)	FBN1 (R2576C)	Single nucleotide variant (missense variant)	Marfan syndrome	GPathogenic FDA Recognized database
Select item 200118	NM_000138.5(FBN1):c.7604G>A (p.Cys2535Tyr)	FBN1 (C2535Y)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GPathogenic/Likely pathogenic
Select item 178034	NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg)	FBN1 (G2514R)	Single nucleotide variant (missense variant)	Marfan syndrome	GPathogenic FDA Recognized database
Select item 199953	NM_000138.5(FBN1):c.7499G>A (p.Cys2500Tyr)	FBN1 (C2500Y)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 222613	NM_000138.5(FBN1):c.7421A>G (p.Tyr2474Cys)	FBN1 (Y2474C)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 636961	NM_000138.5(FBN1):c.7330+3_7330+6del	FBN1	Deletion (splice donor variant)	Marfan syndrome	GLikely pathogenic FDA Recognized database
Select item 222623	NM_000138.5(FBN1):c.7259del (p.Asn2420fs)	FBN1 (N2420fs)	Deletion (frameshift variant)	Marfan syndrome	GLikely pathogenic
Select item 42422	NM_000138.5(FBN1):c.7180C>T (p.Arg2394Ter)	FBN1 (R2394*)	Single nucleotide variant (nonsense)	Marfan syndrome +3 more	GPathogenic
Select item 222622	NM_000138.5(FBN1):c.7151_7152del (p.Val2384fs)	FBN1 (V2384fs)	Microsatellite (frameshift variant)	Marfan syndrome	GPathogenic/Likely pathogenic
Select item 222612	NM_000138.5(FBN1):c.7141C>T (p.Gln2381Ter)	FBN1 (Q2381*)	Single nucleotide variant (nonsense)	Marfan syndrome +1 more	GPathogenic/Likely pathogenic
Select item 222621	NM_000138.5(FBN1):c.7109del (p.Gly2370fs)	FBN1 (G2370fs)	Deletion (frameshift variant)	Marfan syndrome	GLikely pathogenic
Select item 200171	NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs)	FBN1	Deletion (frameshift variant)	Marfan syndrome +4 more	GPathogenic
Select item 222611	NM_000138.5(FBN1):c.6865T>C (p.Cys2289Arg)	FBN1 (C2289R)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 222610	NM_000138.5(FBN1):c.6820T>C (p.Cys2274Arg)	FBN1 (C2274R)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic FDA Recognized database
Select item 180360	NM_000138.5(FBN1):c.6739+2T>A	FBN1	Single nucleotide variant (splice donor variant)	Marfan syndrome +1 more	GPathogenic
Select item 222618	NM_000138.5(FBN1):c.6739+1G>A	FBN1	Single nucleotide variant (splice donor variant)	Marfan syndrome +1 more	GPathogenic/Likely pathogenic
Select item 222609	NM_000138.5(FBN1):c.6694T>C (p.Cys2232Arg)	FBN1 (C2232R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic/Likely pathogenic
Select item 636946	NM_000138.5(FBN1):c.6617A>G (p.Asp2206Gly)	FBN1 (D2206G)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 519782	NM_000138.5(FBN1):c.6534T>A (p.Asn2178Lys)	FBN1 (N2178K)	Single nucleotide variant (missense variant)	Ectopia lentis 1, isolated, autosomal dominant +9 more	GUncertain significance
Select item 636895	NM_000138.5(FBN1):c.6508T>C (p.Cys2170Arg)	FBN1 (C2170R)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 234313	NM_000138.5(FBN1):c.6355G>A (p.Val2119Met)	FBN1 (V2119M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 222608	NM_000138.5(FBN1):c.6038A>T (p.Asp2013Val)	FBN1 (D2013V)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 222617	NM_000138.5(FBN1):c.5918-2A>G	FBN1	Single nucleotide variant (splice acceptor variant)	Marfan syndrome +2 more	GPathogenic/Likely pathogenic
Select item 180357	NM_000138.5(FBN1):c.5861T>G (p.Phe1954Cys)	FBN1 (F1954C)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GLikely pathogenic
Select item 222607	NM_000138.5(FBN1):c.5806A>G (p.Ser1936Gly)	FBN1 (S1936G)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance
Select item 155794	NM_000138.5(FBN1):c.5783G>T (p.Cys1928Phe)	FBN1 (C1928F)	Single nucleotide variant (missense variant)	Marfan syndrome	GPathogenic
Select item 520499	NM_000138.5(FBN1):c.5626T>C (p.Cys1876Arg)	FBN1 (C1876R)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 549272	NM_000138.5(FBN1):c.5369G>A (p.Arg1790Gln)	FBN1 (R1790Q)	Single nucleotide variant (missense variant)	Marfan syndrome +3 more	GConflicting classifications of pathogenicity
Select item 29697	NM_000138.5(FBN1):c.5284G>A (p.Gly1762Ser)	FBN1 (G1762S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GPathogenic
Select item 180356	NM_000138.5(FBN1):c.5280T>A (p.Tyr1760Ter)	FBN1 (Y1760*)	Single nucleotide variant (nonsense)	Marfan syndrome	GLikely pathogenic
Select item 222625	NM_000138.5(FBN1):c.5016dup (p.Ile1673fs)	FBN1 (I1673fs)	Duplication (frameshift variant)	Marfan syndrome +1 more	GPathogenic/Likely pathogenic
Select item 263692	NM_000138.5(FBN1):c.4935G>A (p.Val1645=)	FBN1	Single nucleotide variant (synonymous variant)	Marfan syndrome +3 more	GConflicting classifications of pathogenicity
Select item 222606	NM_000138.5(FBN1):c.4815A>G (p.Glu1605=)	FBN1	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 200052	NM_000138.5(FBN1):c.4621C>T (p.Arg1541Ter)	FBN1 (R1541*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 180355	NM_000138.5(FBN1):c.4526A>G (p.Tyr1509Cys)	FBN1 (Y1509C)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic FDA Recognized database
Select item 36075	NM_000138.5(FBN1):c.4460-8G>A	FBN1	Single nucleotide variant (intron variant)	not specified +3 more	GPathogenic/Likely pathogenic
Select item 180354	NM_000138.5(FBN1):c.4453T>C (p.Cys1485Arg)	FBN1 (C1485R)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GPathogenic
Select item 200044	NM_000138.5(FBN1):c.4437C>G (p.Asp1479Glu)	FBN1 (D1479E)	Single nucleotide variant (missense variant)	not specified +10 more	GConflicting classifications of pathogenicity
Select item 222605	NM_000138.5(FBN1):c.4429G>A (p.Glu1477Lys)	FBN1 (E1477K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 155793	NM_000138.5(FBN1):c.4405C>T (p.Arg1469Cys)	FBN1 (R1469C)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance FDA Recognized database
Select item 501654	NM_000138.5(FBN1):c.4358C>T (p.Pro1453Leu)	FBN1 (P1453L)	Single nucleotide variant (missense variant)	Marfan syndrome +10 more	GUncertain significance
Select item 549222	NM_000138.5(FBN1):c.4337-1G>T	FBN1	Single nucleotide variant (splice acceptor variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic
Select item 222604	NM_000138.5(FBN1):c.4330T>A (p.Cys1444Ser)	FBN1, LOC126862124 (C1444S)	Single nucleotide variant (missense variant)	Marfan syndrome	GPathogenic FDA Recognized database
Select item 155792	NM_000138.5(FBN1):c.4313G>A (p.Ser1438Asn)	FBN1, LOC126862124 (S1438N)	Single nucleotide variant (missense variant)	Ectopia lentis +8 more	GConflicting classifications of pathogenicity
Select item 180359	NM_000138.5(FBN1):c.4210+1G>A	FBN1	Single nucleotide variant (splice donor variant)	FBN1-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 222620	NM_000138.5(FBN1):c.4197del (p.Phe1400fs)	FBN1 (F1400fs)	Deletion (frameshift variant)	Marfan syndrome	GLikely pathogenic
Select item 222624	NM_000138.5(FBN1):c.3893dup (p.Asn1298fs)	FBN1 (N1298fs)	Duplication (frameshift variant)	Marfan syndrome	GLikely pathogenic
Select item 457199	NM_000138.5(FBN1):c.3794G>C (p.Cys1265Ser)	FBN1 (C1265S)	Single nucleotide variant (missense variant)	Marfan syndrome +2 more	GLikely pathogenic
Select item 200022	NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn)	FBN1 (D1238N)	Single nucleotide variant (missense variant)	Marfan syndrome	GPathogenic FDA Recognized database
Select item 549181	NM_000138.5(FBN1):c.3656A>G (p.Tyr1219Cys)	FBN1 (Y1219C)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GPathogenic/Likely pathogenic
Select item 636757	NM_000138.5(FBN1):c.3593T>C (p.Ile1198Thr)	FBN1 (I1198T)	Single nucleotide variant (missense variant)	not provided +10 more	GUncertain significance
Select item 222603	NM_000138.5(FBN1):c.3571G>A (p.Asp1191Asn)	FBN1 (D1191N)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 16451	NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)	FBN1 (R1170H)	Single nucleotide variant (missense variant)	Marfan syndrome	GBenign FDA Recognized database
Select item 180353	NM_000138.5(FBN1):c.3131G>A (p.Cys1044Tyr)	FBN1 (C1044Y)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GPathogenic
Select item 42325	NM_000138.5(FBN1):c.3058A>G (p.Thr1020Ala)	FBN1 (T1020A)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely benign FDA Recognized database
Select item 177648	NM_000138.5(FBN1):c.3037G>A (p.Gly1013Arg)	FBN1 (G1013R)	Single nucleotide variant (missense variant)	Marfan syndrome +2 more	GPathogenic/Likely pathogenic
Select item 200010	NM_000138.5(FBN1):c.3020T>G (p.Leu1007Arg)	FBN1 (L1007R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 36060	NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr)	FBN1 (A986T)	Single nucleotide variant (missense variant)	Marfan syndrome	GBenign FDA Recognized database
Select item 200005	NM_000138.5(FBN1):c.2861G>A (p.Arg954His)	FBN1 (R954H)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 222602	NM_000138.5(FBN1):c.2695G>A (p.Gly899Arg)	FBN1 (G899R)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GConflicting classifications of pathogenicity
Select item 520242	NM_000138.5(FBN1):c.2673A>G (p.Gln891=)	FBN1	Single nucleotide variant (synonymous variant)	Marfan syndrome +2 more	GPathogenic/Likely pathogenic
Select item 237086	NM_000138.5(FBN1):c.2539+10T>A	FBN1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 263959	NM_000138.5(FBN1):c.2127A>C (p.Ala709=)	FBN1	Single nucleotide variant (synonymous variant)	Marfan syndrome +2 more	GConflicting classifications of pathogenicity
Select item 180358	NM_000138.5(FBN1):c.2113+2T>C	FBN1	Single nucleotide variant (splice donor variant)	Marfan syndrome	GLikely pathogenic
Select item 222601	NM_000138.5(FBN1):c.1909T>C (p.Cys637Arg)	FBN1 (C637R)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 222619	NM_000138.5(FBN1):c.1744_1745del (p.Cys582fs)	FBN1 (C582fs)	Microsatellite (frameshift variant)	Marfan syndrome	GLikely pathogenic
Select item 180352	NM_000138.5(FBN1):c.1633C>T (p.Arg545Cys)	FBN1 (R545C)	Single nucleotide variant (missense variant)	not specified +11 more	GPathogenic
Select item 155791	NM_000138.5(FBN1):c.1496G>A (p.Cys499Tyr)	FBN1 (C499Y)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GPathogenic
Select item 42284	NM_000138.5(FBN1):c.1468+5G>A	FBN1	Single nucleotide variant (intron variant)	Ectopia lentis 1, isolated, autosomal dominant +10 more	GPathogenic/Likely pathogenic
Select item 636640	NM_000138.5(FBN1):c.1379G>A (p.Cys460Tyr)	FBN1 (C460Y)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic FDA Recognized database
Select item 180351	NM_000138.5(FBN1):c.1285C>T (p.Arg429Ter)	FBN1 (R429*)	Single nucleotide variant (nonsense)	Progeroid and marfanoid aspect-lipodystrophy syndrome +10 more	GPathogenic/Likely pathogenic
Select item 527174	NM_000138.5(FBN1):c.701G>A (p.Gly234Asp)	FBN1 (G234D)	Single nucleotide variant (missense variant)	Marfan syndrome +2 more	GPathogenic/Likely pathogenic
Select item 16440	NM_000138.5(FBN1):c.364C>T (p.Arg122Cys)	FBN1 (R122C)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +14 more	GPathogenic
Select item 222600	NM_000138.5(FBN1):c.338C>G (p.Ser113Cys)	FBN1 (S113C)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic FDA Recognized database
Select item 180361	NM_000138.5(FBN1):c.320_321del (p.Ile107fs)	FBN1 (I107fs)	Deletion (frameshift variant)	Marfan syndrome	GLikely pathogenic
Select item 180350	NM_000138.5(FBN1):c.281G>T (p.Cys94Phe)	FBN1 (C94F)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 636478	NM_000138.5(FBN1):c.133A>G (p.Arg45Gly)	FBN1 (R45G)	Single nucleotide variant (missense variant)	Marfan syndrome +2 more	GUncertain significance
Select item 180349	NM_000138.5(FBN1):c.1A>G (p.Met1Val)	FBN1 (M1V)	Single nucleotide variant (missense variant +1 more)	Marfan syndrome +2 more	GPathogenic
Select item 180417	NM_002474.3(MYH11):c.2496G>C (p.Trp832Cys)	MYH11 (W839C +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity

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Items: 95