ClinVar for MedGen (Select 436379) - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2435487	NM_152732.5(RSPH9):c.825G>C (p.Met275Ile)	POLR1C, RSPH9 (A293P +3 more)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia 12	GUncertain significance
Select item 1444848	NM_152732.5(RSPH9):c.281C>T (p.Ala94Val)	POLR1C, RSPH9 (A94V)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia 12 +1 more	GUncertain significance
Select item 912058	NM_152732.5(RSPH9):c.393+13G>A	POLR1C, RSPH9	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 12	GUncertain significance
Select item 910838	NM_152732.5(RSPH9):c.146G>T (p.Arg49Leu)	POLR1C, RSPH9 (R49L)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia 12	GUncertain significance
Select item 910837	NM_152732.5(RSPH9):c.112G>T (p.Asp38Tyr)	POLR1C, RSPH9 (D38Y)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia 12	GUncertain significance
Select item 909997	NM_152732.5(RSPH9):c.*13C>A	POLR1C, RSPH9 (A299D +1 more)	Single nucleotide variant (missense variant +3 more)	Primary ciliary dyskinesia 12	GUncertain significance
Select item 908044	NM_152732.5(RSPH9):c.806A>T (p.Asn269Ile)	POLR1C, RSPH9 (N269I +3 more)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia 12	GUncertain significance
Select item 908043	NM_152732.5(RSPH9):c.804G>C (p.Lys268Asn)	POLR1C, RSPH9 (E286Q +3 more)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia 12	GUncertain significance
Select item 908042	NM_152732.5(RSPH9):c.787G>A (p.Val263Met)	POLR1C, RSPH9 (V263M +3 more)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 908041	NM_152732.5(RSPH9):c.648C>A (p.Ser216=)	POLR1C, RSPH9	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia 12	GUncertain significance
Select item 454994	NM_152732.5(RSPH9):c.760C>T (p.Arg254Cys)	POLR1C, RSPH9 (R254C +3 more)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia 12 +1 more	GUncertain significance
Select item 357020	NM_152732.5(RSPH9):c.819C>T (p.Pro273=)	POLR1C, RSPH9 (L291F +1 more)	Single nucleotide variant (missense variant +3 more)	Primary ciliary dyskinesia 12 +1 more	GConflicting classifications of pathogenicity
Select item 357019	NM_152732.5(RSPH9):c.598A>G (p.Thr200Ala)	RSPH9, POLR1C (T200A +1 more)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia 12	GUncertain significance
Select item 357018	NM_152732.5(RSPH9):c.512G>A (p.Arg171Gln)	POLR1C, RSPH9 (R171Q +1 more)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia 12 +2 more	GConflicting classifications of pathogenicity
Select item 357017	NM_152732.5(RSPH9):c.385G>A (p.Glu129Lys)	POLR1C, RSPH9 (E129K)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia 12	GUncertain significance
Select item 357016	NM_152732.5(RSPH9):c.276G>A (p.Met92Ile)	POLR1C, RSPH9 (M92I)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia 12 +2 more	GUncertain significance
Select item 262684	NM_152732.5(RSPH9):c.-18A>G	POLR1C, RSPH9	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GBenign
Select item 241994	NM_152732.5(RSPH9):c.263C>T (p.Ala88Val)	POLR1C, RSPH9 (A88V)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GBenign/Likely benign
Select item 220293	NM_152732.5(RSPH9):c.415C>T (p.Arg139Cys)	POLR1C, RSPH9 (R139C)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia 12 +1 more	GUncertain significance
Select item 216823	NM_152732.5(RSPH9):c.798C>T (p.Gly266=)	POLR1C, RSPH9 (R284* +1 more)	Single nucleotide variant (nonsense +3 more)	Primary ciliary dyskinesia 12 +1 more	GConflicting classifications of pathogenicity
Select item 165065	NM_152732.5(RSPH9):c.781G>A (p.Val261Ile)	POLR1C, RSPH9 (R278H +3 more)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia 12 +3 more	GBenign
Select item 165064	NM_152732.5(RSPH9):c.671-4259C>T	POLR1C, RSPH9	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 12 +2 more	GBenign/Likely benign
Select item 165063	NM_152732.5(RSPH9):c.421G>A (p.Val141Met)	POLR1C, RSPH9 (V141M)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia 12 +2 more	GConflicting classifications of pathogenicity
Select item 66995	NM_152732.5(RSPH9):c.52C>T (p.Gln18Ter)	POLR1C, RSPH9 (Q18*)	Single nucleotide variant (nonsense +2 more)	Primary ciliary dyskinesia 12	GPathogenic
Select item 66994	NM_152732.5(RSPH9):c.801GAA[1] (p.Lys268del)	POLR1C, RSPH9 (K268del +1 more)	Microsatellite (inframe_deletion)	Primary ciliary dyskinesia +2 more	GPathogenic

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Items: 25