ClinVar for MedGen (Select 815964) - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1602073	NM_080860.4(RSPH1):c.727+15C>G	RSPH1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 24 +1 more	GBenign/Likely benign
Select item 1339557	NM_080860.4(RSPH1):c.637C>T (p.Gln213Ter)	RSPH1 (Q175* +1 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 24	GLikely pathogenic
Select item 1297838	NM_080860.4(RSPH1):c.-43C>T	LOC130066749, RSPH1	Single nucleotide variant (genic upstream transcript variant)	not provided +1 more	GBenign
Select item 1269061	NM_080860.4(RSPH1):c.727+46G>A	RSPH1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 24 +1 more	GBenign
Select item 1214017	NM_080860.4(RSPH1):c.727+19del	RSPH1	Deletion (intron variant)	Primary ciliary dyskinesia 24 +2 more	GBenign/Likely benign
Select item 1028540	NM_080860.4(RSPH1):c.916G>C (p.Asp306His)	RSPH1 (D306H +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 852534	NM_080860.4(RSPH1):c.847C>T (p.Gln283Ter)	RSPH1 (Q245* +1 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 24 +1 more	GConflicting classifications of pathogenicity
Select item 846299	NM_080860.4(RSPH1):c.391G>A (p.Ala131Thr)	RSPH1 (A131T +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 698289	NM_080860.4(RSPH1):c.877+7T>A	RSPH1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 24 +1 more	GBenign/Likely benign
Select item 664828	NM_080860.4(RSPH1):c.196C>T (p.Arg66Ter)	LOC126653391, RSPH1 (R28* +1 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 24 +1 more	GPathogenic/Likely pathogenic
Select item 548598	NM_080860.4(RSPH1):c.315C>G (p.Tyr105Ter)	RSPH1 (Y105* +1 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia 24	GPathogenic
Select item 454951	NM_080860.4(RSPH1):c.727A>G (p.Ser243Gly)	RSPH1 (S243G +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 408126	NM_080860.4(RSPH1):c.907A>G (p.Arg303Gly)	RSPH1 (R303G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 241788	NM_080860.4(RSPH1):c.650T>G (p.Leu217Trp)	RSPH1 (L217W +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +3 more	GBenign/Likely benign
Select item 227052	NM_080860.4(RSPH1):c.742G>A (p.Gly248Arg)	RSPH1 (G248R +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 227050	NM_080860.4(RSPH1):c.393G>A (p.Ala131=)	RSPH1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 208999	NM_080860.4(RSPH1):c.727+5G>A	RSPH1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia +2 more	GLikely pathogenic
Select item 165057	NM_080860.4(RSPH1):c.563T>G (p.Leu188Ter)	RSPH1 (L188* +1 more)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia +1 more	GPathogenic/Likely pathogenic
Select item 144011	NM_080860.4(RSPH1):c.281G>A (p.Trp94Ter)	RSPH1 (W94* +1 more)	Single nucleotide variant (nonsense)	RSPH1-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 66991	NM_080860.4(RSPH1):c.308G>A (p.Gly103Asp)	RSPH1 (G103D +1 more)	Single nucleotide variant (missense variant)	RSPH1-related disorder	GUncertain significance
Select item 66990	NM_080860.4(RSPH1):c.275-2A>C	RSPH1	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic
Select item 66989	NM_080860.4(RSPH1):c.407_410del (p.Lys136fs)	RSPH1 (K136fs +1 more)	Microsatellite (frameshift variant)	Primary ciliary dyskinesia 24	GLikely pathogenic
Select item 66988	NM_080860.4(RSPH1):c.366-3C>A	RSPH1	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GPathogenic
Select item 66987	NM_080860.4(RSPH1):c.85G>T (p.Glu29Ter)	LOC126653391, RSPH1 (E29*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia +1 more	GPathogenic

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Items: 24