ClinVar (all) for Orgtrack (Select 506166) - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3027494	NM_001270974.2(HYDIN):c.3252dup (p.Val1085fs)	HYDIN (V1085fs)	Duplication (frameshift variant)	Primary ciliary dyskinesia 5	GPathogenic
Select item 3027493	NM_001270974.2(HYDIN):c.14157T>G (p.Tyr4719Ter)	HYDIN (Y4719*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 5	GLikely pathogenic
Select item 3027492	NM_001270974.2(HYDIN):c.10886_10902del (p.Asp3629fs)	HYDIN (D3629fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 5	GLikely pathogenic
Select item 3027491	NM_001270974.2(HYDIN):c.3640A>G (p.Ile1214Val)	HYDIN (I1214V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 5	GUncertain significance
Select item 3027490	NM_001270974.2(HYDIN):c.1949G>A (p.Arg650His)	HYDIN (R650H +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 5	GUncertain significance
Select item 3027489	NM_001270974.2(HYDIN):c.6669+1G>A	HYDIN	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia 5	GLikely pathogenic
Select item 3027488	NM_001270974.2(HYDIN):c.1529del (p.Phe510fs)	HYDIN (F510fs +2 more)	Deletion (frameshift variant)	Primary ciliary dyskinesia 5	GPathogenic
Select item 3027487	NM_001270974.2(HYDIN):c.13709del (p.Pro4570fs)	HYDIN (P4570fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 5	GPathogenic
Select item 3027486	NM_001270974.2(HYDIN):c.7214_7215del (p.Ser2405fs)	HYDIN (S2405fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 5	GLikely pathogenic
Select item 3027485	NM_001270974.2(HYDIN):c.2702G>T (p.Gly901Val)	HYDIN (G901V +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 5	GUncertain significance
Select item 3027484	NM_001270974.2(HYDIN):c.12144dup (p.Thr4049fs)	HYDIN (T4049fs)	Duplication (frameshift variant)	Primary ciliary dyskinesia 5	GLikely pathogenic
Select item 3027483	NM_001270974.2(HYDIN):c.4888A>T (p.Lys1630Ter)	HYDIN (K1630*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 5	GPathogenic
Select item 3027482	NM_001270974.2(HYDIN):c.1147C>T (p.Arg383Ter)	HYDIN (R383* +2 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 5	GPathogenic
Select item 3027481	NM_001270974.2(HYDIN):c.8487_8489delinsCA (p.Pro2830fs)	HYDIN (P2830fs)	Indel (frameshift variant)	Primary ciliary dyskinesia 5	GLikely pathogenic
Select item 3027480	NM_001270974.2(HYDIN):c.2376+752_2529+9004del	HYDIN	Deletion (splice acceptor variant +1 more)	Primary ciliary dyskinesia 5	GLikely pathogenic
Select item 3027479	NM_001270974.2(HYDIN):c.1095del (p.Phe365fs)	HYDIN (F365fs +2 more)	Deletion (frameshift variant)	Primary ciliary dyskinesia 5	GLikely pathogenic
Select item 3027478	NM_001270974.2(HYDIN):c.5789-39A>G	HYDIN	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 5	GUncertain significance
Select item 3027477	NM_001270974.2(HYDIN):c.5620-311_5788+1198del	HYDIN	Deletion (splice acceptor variant +1 more)	Primary ciliary dyskinesia 5	GLikely pathogenic
Select item 3027476	NM_001270974.2(HYDIN):c.2419_2422del (p.Val807fs)	HYDIN (V807fs +2 more)	Deletion (frameshift variant)	Primary ciliary dyskinesia 5	GLikely pathogenic
Select item 3027475	NM_001270974.2(HYDIN):c.13680-3A>G	HYDIN	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 5	GUncertain significance
Select item 3027474	NM_001270974.2(HYDIN):c.283C>T (p.Gln95Ter)	HYDIN (Q112* +2 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 5	GLikely pathogenic
Select item 3027473	NM_001270974.2(HYDIN):c.10012G>T (p.Glu3338Ter)	HYDIN (E3338*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 5	GPathogenic
Select item 3027472	NM_001270974.2(HYDIN):c.1670G>C (p.Arg557Thr)	HYDIN (R557T +2 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 5	GLikely pathogenic
Select item 3027471	NM_001270974.2(HYDIN):c.15037_15048delinsGATGATATA (p.Tyr5013_Pro5016delinsAspAspIle)	HYDIN	Indel (inframe_indel)	Primary ciliary dyskinesia 5	GLikely pathogenic
Select item 2442393	NM_001270974.2(HYDIN):c.12444-1G>A	HYDIN	Single nucleotide variant (splice acceptor variant)	Primary ciliary dyskinesia 5	GLikely pathogenic
Select item 587646	NM_000093.5(COL5A1):c.1209G>T (p.Glu403Asp)	COL5A1 (E403D)	Single nucleotide variant (missense variant)	Brugada syndrome	GUncertain significance
Select item 587644	NM_000218.3(KCNQ1):c.1524del (p.Glu508fs)	KCNQ1 (E508fs +1 more)	Deletion (frameshift variant)	Long QT syndrome 1	GLikely pathogenic
Select item 426754	NM_000393.5(COL5A2):c.3422A>C (p.Gln1141Pro)	COL5A2 (Q1141P)	Single nucleotide variant (missense variant)	Familial aortopathy +3 more	GConflicting classifications of pathogenicity
Select item 372225	NM_176869.3(PPA2):c.380G>T (p.Arg127Leu)	PPA2 (R127L)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 372220	NM_176869.3(PPA2):c.182C>T (p.Ser61Phe)	PPA2 (S61F)	Single nucleotide variant (missense variant +1 more)	Sudden cardiac failure, infantile	GLikely pathogenic
Select item 223293	NM_001267550.2(TTN):c.81262_81269del (p.Gln27088fs)	TTN, TTN-AS1 (Q18148fs +5 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2J +2 more	GLikely pathogenic
Select item 213761	NM_005902.4(SMAD3):c.728G>A (p.Arg243His)	SMAD3 (R243H +3 more)	Single nucleotide variant (missense variant)	Familial aortopathy +2 more	GUncertain significance
Select item 67399	NM_000238.4(KCNH2):c.243G>C (p.Gln81His)	KCNH2 (Q81H +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome +2 more	GUncertain significance
Select item 53059	NM_000218.3(KCNQ1):c.521G>A (p.Arg174His)	KCNQ1 (R174H +2 more)	Single nucleotide variant (missense variant)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 45027	NM_001005242.3(PKP2):c.14del (p.Gly5fs)	PKP2 (G5fs)	Deletion (frameshift variant)	Arrhythmogenic ventricular cardiomyopathy +3 more	GPathogenic/Likely pathogenic
Select item 39758	NM_006888.6(CALM1):c.293A>G (p.Asn98Ser)	CALM1 (N98S +2 more)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia 4 +3 more	GPathogenic/Likely pathogenic
Select item 39667	NM_000138.5(FBN1):c.2920C>T (p.Arg974Cys)	FBN1 (R974C)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GPathogenic/Likely pathogenic
Select item 37039	NM_000256.3(MYBPC3):c.2827C>T (p.Arg943Ter)	MYBPC3 (R943*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +4 more	GPathogenic
Select item 6757	NM_001005242.3(PKP2):c.2357+1G>A	PKP2	Single nucleotide variant (splice donor variant +1 more)	Arrhythmogenic right ventricular cardiomyopathy +7 more	GPathogenic

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Items: 39