ClinVar for MedGen (Select 862971) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065022	NM_021147.5(CCNO):c.715C>G (p.His239Asp)	CCNO (H239D)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 29	GUncertain significance
Select item 2664880	NM_016343.4(CENPF):c.8124_8127delinsAGC (p.Lys2709fs)	CENPF (K2709fs)	Indel (frameshift variant)	Primary ciliary dyskinesia 29	GLikely pathogenic
Select item 2582358	NM_021147.5(CCNO):c.714_715delinsTG (p.Glu238_His239delinsAspAsp)	CCNO	Indel (missense variant +1 more)	Primary ciliary dyskinesia 29	GUncertain significance
Select item 2502875	NM_021147.5(CCNO):c.548T>A (p.Leu183Ter)	CCNO (L183*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia 29	GLikely pathogenic
Select item 2441875	NM_021147.5(CCNO):c.564_567+1delinsTCATCGCTTGCATCGCTTGCATCGCTTGCATCGC	CCNO	Indel (splice donor variant)	Primary ciliary dyskinesia 29	GLikely pathogenic
Select item 1698884	NM_021147.5(CCNO):c.265C>G (p.Pro89Ala)	CCNO, LOC129993895 (P89A)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 29 +2 more	GUncertain significance
Select item 1333420	NM_021147.5(CCNO):c.906del (p.Leu303fs)	CCNO (L303fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia 29	GPathogenic
Select item 1032118	NM_021147.5(CCNO):c.368C>T (p.Ala123Val)	CCNO (A123V)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 29	GUncertain significance
Select item 812691	NM_021147.5(CCNO):c.964del (p.Leu322fs)	CCNO (L322fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia 29	GLikely pathogenic
Select item 800814	NM_021147.5(CCNO):c.425del (p.Pro142fs)	CCNO (P142fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia 29	GPathogenic
Select item 665170	NM_021147.5(CCNO):c.259_268dup (p.Val90fs)	CCNO, LOC129993895 (V90fs)	Duplication (frameshift variant +1 more)	Primary ciliary dyskinesia +1 more	GPathogenic
Select item 648428	NM_021147.5(CCNO):c.187T>C (p.Ser63Pro)	CCNO (S63P)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 29 +1 more	GUncertain significance
Select item 416791	NM_021147.5(CCNO):c.134C>A (p.Pro45His)	CCNO (P45H)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 411593	NM_021147.5(CCNO):c.491T>C (p.Phe164Ser)	CCNO (F164S)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 29 +1 more	GUncertain significance
Select item 139611	NM_021147.5(CCNO):c.481_482del (p.Leu161fs)	CCNO (L161fs)	Microsatellite (frameshift variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 139603	NM_021147.5(CCNO):c.263_267dup (p.Val90fs)	CCNO, LOC129993895 (V90fs)	Duplication (frameshift variant +1 more)	Primary ciliary dyskinesia +1 more	GPathogenic
Select item 139602	NM_021147.5(CCNO):c.961C>T (p.Gln321Ter)	CCNO (Q321*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 139601	NM_021147.5(CCNO):c.926del (p.Pro309fs)	CCNO (P309fs)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia 29	GPathogenic
Select item 139600	NM_021147.5(CCNO):c.258_262dup (p.Gln88fs)	CCNO, LOC129993895 (Q88fs)	Microsatellite (frameshift variant +1 more)	Primary ciliary dyskinesia +2 more	GPathogenic
Select item 139599	NM_021147.5(CCNO):c.248_252dup (p.Gly85fs)	CCNO, LOC129993895 (G85fs)	Duplication (frameshift variant +1 more)	Primary ciliary dyskinesia +1 more	GPathogenic
Select item 2085	NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp)	GCDH (R402W)	Single nucleotide variant (missense variant +1 more)	Glutaric aciduria, type 1 +4 more	GPathogenic/Likely pathogenic

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Items: 21