ClinVar (all) for Orgtrack (Select 505630) - ClinVar

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Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 916129	NM_001277115.2(DNAH11):c.13288G>C (p.Gly4430Arg)	DNAH11 (G4430R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 916128	NM_001277115.2(DNAH11):c.13373C>T (p.Pro4458Leu)	DNAH11, CDCA7L (P4458L)	Single nucleotide variant (3 prime UTR variant +1 more)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely pathogenic
Select item 916127	NM_130810.3(DNAAF4):c.1048-149_*1048del	DNAAF4, DNAAF4-CCPG1	Deletion (intron variant)	Primary ciliary dyskinesia	GPathogenic
Select item 916126	NM_130810.4(DNAAF4):c.856G>T (p.Glu286Ter)	DNAAF4, DNAAF4-CCPG1 (E286*)	Single nucleotide variant (non-coding transcript variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 916125	NM_130810.4(DNAAF4):c.784-1037_894-2012del	DNAAF4, DNAAF4-CCPG1	Deletion (splice acceptor variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 916124	NM_001369.3(DNAH5):c.3949C>T (p.Gln1317Ter)	DNAH5 (Q1317*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 916123	NC_000005.10:g.13830078_13842859del	DNAH5	Deletion	Primary ciliary dyskinesia	GPathogenic
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 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 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 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 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 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 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 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 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 517127	NM_000090.4(COL3A1):c.536del (p.Pro179fs)	COL3A1 (P179fs)	Deletion (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
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 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 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 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 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 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 517120	NM_000138.5(FBN1):c.5917+6T>C	FBN1	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely pathogenic
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	GUncertain significance
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 517117	NM_000138.5(FBN1):c.6402dup (p.Asp2135fs)	FBN1 (D2135fs)	Duplication (frameshift variant)	Familial thoracic aortic aneurysm and aortic dissection	GPathogenic
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 467819	NM_030777.4(SLC2A10):c.648C>G (p.Tyr216Ter)	SLC2A10 (Y216*)	Single nucleotide variant (nonsense)	Arterial tortuosity syndrome +1 more	GPathogenic/Likely pathogenic
Select item 438266	NM_001077653.2(TBX20):c.995del (p.Pro332fs)	TBX20 (P332fs)	Deletion (frameshift variant)	Hypoplastic left heart syndrome +2 more	GPathogenic
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 350995	NM_001369.3(DNAH5):c.13458dup (p.Asn4487Ter)	DNAH5 (N4487*)	Duplication (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 283902	NM_001277115.2(DNAH11):c.10221_10222del (p.Cys3408fs)	DNAH11 (C3408fs)	Microsatellite (frameshift variant)	Primary ciliary dyskinesia +1 more	GPathogenic
Select item 266072	NM_013254.4(TBK1):c.1330C>T (p.Arg444Ter)	TBK1 (R444*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic; other
Select item 266071	NM_013254.4(TBK1):c.1508C>T (p.Thr503Ile)	TBK1 (T503I)	Single nucleotide variant (missense variant)	Motor neuron disease +1 more	GUncertain significance
Select item 266070	NM_013254.4(TBK1):c.1135A>G (p.Ile379Val)	TBK1 (I379V)	Single nucleotide variant (missense variant)	Motor neuron disease	GUncertain significance
Select item 266069	NM_013254.4(TBK1):c.829C>G (p.Leu277Val)	TBK1 (L277V)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 +2 more	GConflicting classifications of pathogenicity
Select item 266068	NM_013254.4(TBK1):c.452C>T (p.Ser151Phe)	TBK1 (S151F)	Single nucleotide variant (missense variant)	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 +1 more	GConflicting classifications of pathogenicity
Select item 266067	NM_013254.4(TBK1):c.2115_2127del (p.Glu706fs)	TBK1 (E706fs)	Deletion (frameshift variant)	Motor neuron disease	Gother
Select item 266066	NM_013254.4(TBK1):c.1432del (p.Thr478fs)	TBK1 (T478fs)	Deletion (frameshift variant)	Motor neuron disease	Gother
Select item 266065	NM_007375.4(TARDBP):c.1122T>G (p.Tyr374Ter)	TARDBP (Y374*)	Single nucleotide variant (nonsense)	Motor neuron disease +2 more	GUncertain significance
Select item 266064	NM_007375.4(TARDBP):c.1043G>T (p.Gly348Val)	TARDBP (G348V)	Single nucleotide variant (missense variant)	Motor neuron disease	GPathogenic
Select item 266063	NM_000454.5(SOD1):c.437C>A (p.Ala146Asp)	SOD1 (A146D)	Single nucleotide variant (missense variant)	Motor neuron disease	GLikely pathogenic
Select item 266062	NM_001008212.2(OPTN):c.1403T>G (p.Met468Arg)	OPTN (M468R)	Single nucleotide variant (missense variant)	Motor neuron disease	GLikely pathogenic
Select item 266061	NM_001008212.2(OPTN):c.1337A>G (p.Glu446Gly)	OPTN (E446G)	Single nucleotide variant (missense variant)	Motor neuron disease	GUncertain significance
Select item 266060	NM_001008212.2(OPTN):c.941A>T (p.Gln314Leu)	OPTN (Q314L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 266059	NM_001008212.2(OPTN):c.280A>C (p.Lys94Gln)	OPTN, LOC108903148 (K94Q)	Single nucleotide variant (missense variant)	Motor neuron disease	GLikely pathogenic
Select item 266058	NM_001199397.3(NEK1):c.481C>T (p.Arg161Ter)	NEK1 (R161*)	Single nucleotide variant (nonsense +1 more)	Motor neuron disease +1 more	GPathogenic; other
Select item 266057	NM_001199397.3(NEK1):c.1911_1912insTATA (p.Ala638fs)	NEK1 (A566fs +6 more)	Insertion (frameshift variant +1 more)	Motor neuron disease	GUncertain significance
Select item 266056	NM_001199397.3(NEK1):c.1750-5T>C	NEK1	Single nucleotide variant (intron variant)	Motor neuron disease +1 more	GConflicting classifications of pathogenicity
Select item 266055	NM_001199397.3(NEK1):c.214+1G>A	NEK1	Single nucleotide variant (splice donor variant)	Connective tissue disorder +2 more	GPathogenic; other
Select item 266054	NM_001199397.3(NEK1):c.3140C>T (p.Ser1047Leu)	NEK1 (S1019L +6 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly +1 more	GConflicting classifications of pathogenicity
Select item 266053	NM_001199397.3(NEK1):c.2392C>G (p.Leu798Val)	NEK1 (L770V +6 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly +1 more	GConflicting classifications of pathogenicity
Select item 266052	NM_001199397.3(NEK1):c.2368G>A (p.Ala790Thr)	NEK1 (A762T +6 more)	Single nucleotide variant (missense variant +1 more)	Motor neuron disease	GLikely benign
Select item 266051	NM_001199397.3(NEK1):c.2235T>G (p.Asn745Lys)	NEK1 (N717K +6 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 266050	NM_001199397.3(NEK1):c.2306A>G (p.His769Arg)	NEK1 (H741R +6 more)	Single nucleotide variant (missense variant +1 more)	Motor neuron disease +1 more	GConflicting classifications of pathogenicity
Select item 266049	NM_001199397.3(NEK1):c.2137G>A (p.Val713Met)	NEK1 (V685M +6 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly +3 more	GConflicting classifications of pathogenicity
Select item 266048	NM_001199397.3(NEK1):c.1789T>A (p.Phe597Ile)	NEK1 (F569I +6 more)	Single nucleotide variant (missense variant +1 more)	Motor neuron disease +2 more	GConflicting classifications of pathogenicity
Select item 266047	NM_001199397.3(NEK1):c.1137T>A (p.Asp379Glu)	NEK1 (D379E)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 266046	NM_001199397.3(NEK1):c.1021G>A (p.Ala341Thr)	NEK1 (A341T)	Single nucleotide variant (missense variant +1 more)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 266045	NM_001199397.3(NEK1):c.827G>T (p.Cys276Phe)	NEK1 (C276F)	Single nucleotide variant (missense variant +1 more)	Motor neuron disease	GUncertain significance
Select item 266044	NM_001199397.3(NEK1):c.695G>A (p.Arg232His)	NEK1 (R232H)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly +2 more	GConflicting classifications of pathogenicity
Select item 266043	NM_001199397.3(NEK1):c.386T>G (p.Ile129Ser)	NEK1 (I129S)	Single nucleotide variant (missense variant +1 more)	Motor neuron disease	GLikely pathogenic
Select item 266042	NM_001199397.3(NEK1):c.1948del (p.Gln650fs)	NEK1 (Q606fs +5 more)	Deletion (frameshift variant +2 more)	Motor neuron disease	Gother
Select item 265401	NM_000138.5(FBN1):c.2581C>T (p.Arg861Ter)	FBN1 (R861*)	Single nucleotide variant (nonsense)	Isolated thoracic aortic aneurysm +12 more	GPathogenic/Likely pathogenic
Select item 220475	NM_001369.3(DNAH5):c.5281C>T (p.Arg1761Ter)	DNAH5 (R1761*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 3 +1 more	GPathogenic
Select item 219183	NM_025074.7(FRAS1):c.5664_5665+19delinsT	FRAS1	Indel (splice donor variant)	Fraser syndrome 1	GPathogenic
Select item 219182	NM_025074.7(FRAS1):c.10287del (p.Leu3428_Tyr3429insTer)	FRAS1	Deletion (nonsense)	Fraser syndrome 1	GPathogenic
Select item 219181	NM_147127.5(EVC2):c.3141G>A (p.Trp1047Ter)	EVC2 (W1047* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 219180	NM_147127.5(EVC2):c.2746del (p.Ser916fs)	EVC2 (S836fs +1 more)	Deletion (frameshift variant)	Ellis-van Creveld syndrome +1 more	GPathogenic
Select item 213934	NM_003242.6(TGFBR2):c.1489C>T (p.Arg497Ter)	TGFBR2 (R497* +10 more)	Single nucleotide variant (nonsense)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GPathogenic
Select item 200171	NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs)	FBN1	Deletion (frameshift variant)	Marfan syndrome +4 more	GPathogenic
Select item 200001	NM_000138.5(FBN1):c.2645C>T (p.Ala882Val)	FBN1 (A882V)	Single nucleotide variant (missense variant)	not provided +11 more	GPathogenic/Likely pathogenic
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 199963	NM_000138.5(FBN1):c.1090C>T (p.Arg364Ter)	LOC113939944, FBN1 (R364*)	Single nucleotide variant (nonsense)	Marfan syndrome +5 more	GPathogenic/Likely pathogenic
Select item 199125	NM_001199397.3(NEK1):c.782G>A (p.Arg261His)	NEK1 (R261H)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 197145	NM_000454.5(SOD1):c.341T>C (p.Ile114Thr)	SOD1 (I114T)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 161316	NM_002474.3(MYH11):c.5273G>A (p.Arg1758Gln)	MYH11, NDE1 (R1758Q +1 more)	Single nucleotide variant (intron variant +1 more)	not provided +3 more	GUncertain significance
Select item 161245	NM_000138.5(FBN1):c.59A>G (p.Tyr20Cys)	FBN1, LOC130057019 (Y20C)	Single nucleotide variant (missense variant)	Marfan syndrome	GUncertain significance FDA Recognized database
Select item 65636	NM_001369.3(DNAH5):c.10815del (p.Pro3606fs)	DNAH5 (P3606fs)	Deletion (frameshift variant)	not provided +2 more	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 42324	NM_000138.5(FBN1):c.3012C>G (p.Tyr1004Ter)	FBN1 (Y1004*)	Single nucleotide variant (nonsense)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GPathogenic/Likely pathogenic
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 36622	NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln)	MYH11, NDE1 (K1628Q +1 more)	Single nucleotide variant (missense variant +1 more)	Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 +6 more	GUncertain significance
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 35918	NM_000088.4(COL1A1):c.2932C>T (p.Pro978Ser)	COL1A1 (P978S)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta +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)	Ehlers-Danlos syndrome, arthrochalasia type +7 more	GConflicting classifications of pathogenicity
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 21483	NM_007375.4(TARDBP):c.859G>A (p.Gly287Ser)	TARDBP	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10 +3 more	GPathogenic/Likely pathogenic
Select item 17225	NM_000090.4(COL3A1):c.1744G>A (p.Gly582Ser)	COL3A1	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 14784	NM_000454.5(SOD1):c.280G>C (p.Gly94Arg)	SOD1 (G94R)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 1 +1 more	GPathogenic/Likely pathogenic
Select item 14761	NM_000454.5(SOD1):c.302A>G (p.Glu101Gly)	SOD1 (E101G)	Single nucleotide variant (missense variant)	Motor neuron disease +2 more	GPathogenic
Select item 14752	NM_000454.5(SOD1):c.112G>A (p.Gly38Arg)	SOD1 (G38R)	Single nucleotide variant (missense variant)	Motor neuron disease +2 more	GPathogenic
Select item 12507	NM_003242.6(TGFBR2):c.1609C>T (p.Arg537Cys)	TGFBR2 (R537C +10 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GPathogenic/Likely pathogenic
Select item 4590	NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp)	SLC2A10 (R132W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity

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Items: 95