C1837615[trait identifier] AND "Royal Brompton Clinical Genetics And G - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3027493	NM_001270974.2(HYDIN):c.14157T>G (p.Tyr4719Ter)	HYDIN (Y4719*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 5	GLikely pathogenic
Select item 3027487	NM_001270974.2(HYDIN):c.13709del (p.Pro4570fs)	HYDIN (P4570fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 5	GPathogenic
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 2442393	NM_001270974.2(HYDIN):c.12444-1G>A	HYDIN	Single nucleotide variant (splice acceptor variant)	Primary ciliary dyskinesia 5	GLikely pathogenic
Select item 3027484	NM_001270974.2(HYDIN):c.12144dup (p.Thr4049fs)	HYDIN (T4049fs)	Duplication (frameshift variant)	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 3027473	NM_001270974.2(HYDIN):c.10012G>T (p.Glu3338Ter)	HYDIN (E3338*)	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 3027486	NM_001270974.2(HYDIN):c.7214_7215del (p.Ser2405fs)	HYDIN (S2405fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia 5	GLikely pathogenic
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 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 3027483	NM_001270974.2(HYDIN):c.4888A>T (p.Lys1630Ter)	HYDIN (K1630*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 5	GPathogenic
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 3027494	NM_001270974.2(HYDIN):c.3252dup (p.Val1085fs)	HYDIN (V1085fs)	Duplication (frameshift variant)	Primary ciliary dyskinesia 5	GPathogenic
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 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 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 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 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 3027488	NM_001270974.2(HYDIN):c.1529del (p.Phe510fs)	HYDIN (F510fs +2 more)	Deletion (frameshift variant)	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 3027479	NM_001270974.2(HYDIN):c.1095del (p.Phe365fs)	HYDIN (F365fs +2 more)	Deletion (frameshift variant)	Primary ciliary dyskinesia 5	GLikely pathogenic
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

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Items: 25