ClinVar (all) for Orgtrack (Select 505251) - ClinVar

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

Links from Orgtrack

Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1327492	NM_005343.4(HRAS):c.466T>C (p.Phe156Leu)	LRRC56, HRAS (F156L +1 more)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GPathogenic
Select item 1064732	NM_001844.5(COL2A1):c.4013G>A (p.Ser1338Asn)	COL2A1 (S1269N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1064731	NM_001844.5(COL2A1):c.3936G>T (p.Lys1312Asn)	COL2A1 (K1243N +1 more)	Single nucleotide variant (missense variant)	MASS syndrome	GLikely pathogenic
Select item 843504	NM_001844.5(COL2A1):c.193G>A (p.Asp65Asn)	COL2A1 (D65N)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 625134	NM_004612.4(TGFBR1):c.1457T>C (p.Leu486Ser)	TGFBR1 (L486S +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic/Likely pathogenic
Select item 625133	NM_004612.4(TGFBR1):c.575G>A (p.Gly192Asp)	TGFBR1 (G192D +2 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GConflicting classifications of pathogenicity
Select item 625132	NM_005902.4(SMAD3):c.851A>G (p.Glu284Gly)	SMAD3 (E284G +3 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 625131	NM_005902.4(SMAD3):c.848T>A (p.Val283Glu)	SMAD3 (V283E +3 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 625130	NM_005902.4(SMAD3):c.738_741dup (p.Phe248fs)	SMAD3 (F143fs +3 more)	Duplication (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 625129	NM_001999.4(FBN2):c.1610A>G (p.Asp537Gly)	FBN2 (D537G)	Single nucleotide variant (missense variant)	Congenital contractural arachnodactyly +1 more	GConflicting classifications of pathogenicity
Select item 625128	NM_000138.5(FBN1):c.7694G>A (p.Cys2565Tyr)	FBN1 (C2565Y)	Single nucleotide variant (missense variant)	Marfan syndrome	GPathogenic
Select item 625127	NM_000138.5(FBN1):c.7582T>C (p.Cys2528Arg)	FBN1 (C2528R)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic/Likely pathogenic
Select item 625126	NM_000138.5(FBN1):c.6613dup (p.Glu2205fs)	FBN1 (E2205fs)	Duplication (frameshift variant)	Marfan syndrome	GPathogenic
Select item 625125	NM_000138.5(FBN1):c.6386A>G (p.Asp2129Gly)	FBN1 (D2129G)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 625124	NM_000138.5(FBN1):c.5905del (p.Arg1969fs)	FBN1 (R1969fs)	Deletion (frameshift variant)	Marfan syndrome +1 more	GPathogenic
Select item 625123	NM_000138.5(FBN1):c.5066-1G>A	FBN1	Single nucleotide variant (splice acceptor variant)	Marfan syndrome +1 more	GPathogenic
Select item 625122	NM_000138.5(FBN1):c.4781del (p.Gly1594fs)	FBN1 (G1594fs)	Deletion (frameshift variant)	Marfan syndrome	GPathogenic
Select item 625121	NM_000138.5(FBN1):c.4036T>G (p.Phe1346Val)	FBN1 (F1346V)	Single nucleotide variant (missense variant)	Marfan syndrome	GPathogenic
Select item 625120	NM_000138.5(FBN1):c.3599A>T (p.Glu1200Val)	FBN1 (E1200V)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 625119	NM_000138.5(FBN1):c.3332G>A (p.Cys1111Tyr)	FBN1 (C1111Y)	Single nucleotide variant (missense variant)	Marfan syndrome	GPathogenic
Select item 625118	NM_000138.5(FBN1):c.2557T>C (p.Cys853Arg)	FBN1 (C853R)	Single nucleotide variant (missense variant)	Marfan syndrome	GPathogenic
Select item 625117	NM_000138.5(FBN1):c.1589-14A>G	FBN1	Single nucleotide variant (intron variant)	Marfan syndrome	GLikely pathogenic
Select item 625116	NM_000138.5(FBN1):c.974_983del (p.Gly325fs)	FBN1 (G325fs)	Deletion (frameshift variant)	Marfan syndrome	GPathogenic
Select item 625115	NM_000138.5(FBN1):c.304T>C (p.Cys102Arg)	FBN1 (C102R)	Single nucleotide variant (missense variant)	Marfan syndrome	GLikely pathogenic
Select item 625114	NM_000090.4(COL3A1):c.773G>C (p.Gly258Ala)	COL3A1 (G258A)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 617478	NM_002474.3(MYH11):c.379C>T (p.Pro127Ser)	MYH11 (P127S)	Single nucleotide variant (missense variant)	Visceral myopathy 1	GLikely pathogenic
Select item 549195	NM_000138.5(FBN1):c.3937G>A (p.Gly1313Ser)	FBN1 (G1313S)	Single nucleotide variant (missense variant)	Marfan syndrome +1 more	GConflicting classifications of pathogenicity
Select item 527177	NM_000138.5(FBN1):c.3012C>A (p.Tyr1004Ter)	FBN1 (Y1004*)	Single nucleotide variant (nonsense)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic
Select item 431982	NM_000138.5(FBN1):c.1570dup (p.Thr524fs)	FBN1 (T524fs)	Duplication (frameshift variant)	Marfan syndrome +2 more	GPathogenic
Select item 373743	NM_000138.5(FBN1):c.5495G>A (p.Arg1832His)	FBN1 (R1832H)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 267292	NM_002317.7(LOX):c.125G>A (p.Trp42Ter)	LOX, SRFBP1 (W42*)	Single nucleotide variant (nonsense)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
Select item 264500	NM_005902.4(SMAD3):c.1091A>G (p.Tyr364Cys)	SMAD3 (Y364C +3 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GConflicting classifications of pathogenicity
Select item 213936	NM_003242.6(TGFBR2):c.1564G>A (p.Asp522Asn)	TGFBR2 (D522N +10 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic/Likely pathogenic
Select item 213766	NM_005902.4(SMAD3):c.803G>A (p.Arg268His)	SMAD3 (R268H +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 208417	NM_032436.4(CHAMP1):c.1866_1867del (p.Asp622fs)	CHAMP1 (D622fs)	Deletion (frameshift variant)	intellectual disability with severe speech impairment	GPathogenic
Select item 208416	NM_032436.4(CHAMP1):c.1768C>T (p.Gln590Ter)	CHAMP1 (Q590*)	Single nucleotide variant (nonsense)	intellectual disability with severe speech impairment	GPathogenic
Select item 208415	NM_032436.4(CHAMP1):c.1192C>T (p.Arg398Ter)	CHAMP1 (R398*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 208414	NM_032436.4(CHAMP1):c.635del (p.Pro212fs)	CHAMP1 (P212fs)	Deletion (frameshift variant)	intellectual disability with severe speech impairment	GPathogenic
Select item 200022	NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn)	FBN1 (D1238N)	Single nucleotide variant (missense variant)	Marfan syndrome	GPathogenicFDA Recognized database
Select item 199956	NM_000138.5(FBN1):c.640G>A (p.Gly214Ser)	FBN1 (G214S)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GPathogenic/Likely pathogenic
Select item 180420	NM_002474.3(MYH11):c.3757AAG[3] (p.Lys1256del)	MYH11 (K1263del +1 more)	Microsatellite (inframe_deletion)	Aortic aneurysm, familial thoracic 4 +2 more	GConflicting classifications of pathogenicity
Select item 163462	NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr)	FBN1 (I2585T)	Single nucleotide variant (missense variant)	Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections +12 more	GPathogenic/Likely pathogenic
Select item 156414	NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs)	AP4B1-AS1, AP4B1 (T219fs +2 more)	Deletion (frameshift variant)	Abnormality of the nervous system +3 more	GPathogenic/Likely pathogenic
Select item 42300	NM_000138.5(FBN1):c.2242T>C (p.Cys748Arg)	FBN1 (C748R)	Single nucleotide variant (missense variant)	Marfan syndrome +2 more	GPathogenic/Likely pathogenic
Select item 16461	NM_000138.5(FBN1):c.718C>T (p.Arg240Cys)	FBN1 (R240C)	Single nucleotide variant (missense variant)	Marfan syndrome +10 more	GPathogenic/Likely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Orgtrack

Items: 45