ClinVar for Gene (Select 221421) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3315579	NM_152732.5(RSPH9):c.678G>T (p.Trp226Cys)	RSPH9 (W226C +3 more)	Single nucleotide variant (nonsense +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3315578	NM_152732.5(RSPH9):c.511C>T (p.Arg171Trp)	RSPH9 (R171W +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3315577	NM_152732.5(RSPH9):c.76G>C (p.Ala26Pro)	RSPH9 (A26P)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3315576	NM_152732.5(RSPH9):c.762C>T (p.Arg254=)	RSPH9 (H272Y +1 more)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 3229274	NM_152732.5(RSPH9):c.239C>T (p.Thr80Ile)	RSPH9 (T80I)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3229273	NM_152732.5(RSPH9):c.159C>G (p.Leu53=)	RSPH9	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 3208816	NM_018135.4(MRPS18A):c.517C>G (p.Arg173Gly)	MRPS18A, RSPH9 (R173G)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3208808	NM_018135.4(MRPS18A):c.502C>G (p.Arg168Gly)	MRPS18A, RSPH9 (R168G)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3208802	NM_018135.4(MRPS18A):c.482C>T (p.Pro161Leu)	MRPS18A, RSPH9 (P161L)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3208800	NM_018135.4(MRPS18A):c.475G>A (p.Val159Ile)	MRPS18A, RSPH9 (V159I)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3156749	NM_152732.5(RSPH9):c.805A>G (p.Asn269Asp)	RSPH9 (N269D +3 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3156748	NM_152732.5(RSPH9):c.754G>A (p.Ala252Thr)	RSPH9 (A237T +3 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3156746	NM_152732.5(RSPH9):c.73C>T (p.Arg25Trp)	RSPH9 (R25W)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3156745	NM_152732.5(RSPH9):c.577C>T (p.Pro193Ser)	RSPH9 (P178S +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3156743	NM_152732.5(RSPH9):c.305G>A (p.Arg102His)	RSPH9 (R102H)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3156742	NM_152732.5(RSPH9):c.126T>G (p.Asp42Glu)	RSPH9 (D42E)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 3061445	NM_152732.5(RSPH9):c.176T>A (p.Ile59Asn)	RSPH9 (I59N)	Single nucleotide variant (missense variant +1 more)	RSPH9-related disorder	GUncertain significance
Select item 3029572	NM_152732.5(RSPH9):c.777C>T (p.Gly259=)	RSPH9	Single nucleotide variant (synonymous variant +1 more)	RSPH9-related disorder	GLikely benign
Select item 3017514	NM_152732.5(RSPH9):c.66G>A (p.Pro22=)	RSPH9	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 3008409	NM_152732.5(RSPH9):c.492T>C (p.Phe164=)	RSPH9	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2961516	NM_152732.5(RSPH9):c.401T>C (p.Ile134Thr)	RSPH9 (I134T)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2908932	NM_152732.5(RSPH9):c.459C>A (p.Ile153=)	RSPH9	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2903459	NM_152732.5(RSPH9):c.498C>T (p.Pro166=)	RSPH9	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2887444	NM_152732.5(RSPH9):c.1A>T (p.Met1Leu)	RSPH9 (M1L)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2877428	NM_152732.5(RSPH9):c.9C>G (p.Ala3=)	RSPH9	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2838420	NM_152732.5(RSPH9):c.227+15G>T	RSPH9	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2802377	NM_152732.5(RSPH9):c.24_25delinsTG (p.Ser9Ala)	RSPH9 (S9A)	Indel (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2799059	NM_152732.5(RSPH9):c.27T>C (p.Ser9=)	RSPH9	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2797862	NM_152732.5(RSPH9):c.72T>G (p.Arg24=)	RSPH9	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2794476	NM_152732.5(RSPH9):c.524-17C>T	RSPH9	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2763951	NM_152732.5(RSPH9):c.795T>C (p.Thr265=)	RSPH9 (W283R +1 more)	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2736543	NM_152732.5(RSPH9):c.204C>T (p.Leu68=)	RSPH9	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2736333	NM_152732.5(RSPH9):c.290C>T (p.Ser97Phe)	RSPH9 (S97F)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2732594	NM_152732.5(RSPH9):c.227+20G>A	RSPH9	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2729091	NM_152732.5(RSPH9):c.122A>G (p.Tyr41Cys)	RSPH9 (Y41C)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2725744	NM_152732.5(RSPH9):c.416G>A (p.Arg139His)	RSPH9 (R139H)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2721408	NM_152732.5(RSPH9):c.671-4T>G	RSPH9	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2714127	NM_152732.5(RSPH9):c.704C>T (p.Ala235Val)	RSPH9 (A220V +1 more)	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2656611	NM_152732.5(RSPH9):c.600C>T (p.Thr200=)	RSPH9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2626073	NM_152732.5(RSPH9):c.745_746delinsAC (p.Phe249Thr)	RSPH9 (L266H +3 more)	Indel (missense variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2608222	NM_152732.5(RSPH9):c.605T>G (p.Leu202Arg)	RSPH9 (L187R +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2604467	NM_152732.5(RSPH9):c.717G>T (p.Leu239=)	RSPH9 (A257S +1 more)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2602948	NM_152732.5(RSPH9):c.458T>C (p.Ile153Thr)	RSPH9 (I138T +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2553863	NM_152732.5(RSPH9):c.447G>T (p.Lys149Asn)	RSPH9 (K134N +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2528149	NM_152732.5(RSPH9):c.745T>A (p.Phe249Ile)	RSPH9 (F249I +3 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2528109	NM_152732.5(RSPH9):c.746T>C (p.Phe249Ser)	RSPH9 (F249S +1 more)	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2467641	NM_018135.4(MRPS18A):c.505T>C (p.Trp169Arg)	MRPS18A, RSPH9 (W169R)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2455815	NM_018135.4(MRPS18A):c.562T>C (p.Ser188Pro)	RSPH9, MRPS18A (S188P)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2449375	NM_152732.5(RSPH9):c.464C>T (p.Pro155Leu)	RSPH9 (P140L +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2449374	NM_152732.5(RSPH9):c.753T>C (p.His251=)	RSPH9 (C269R +1 more)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2449373	NM_152732.5(RSPH9):c.655C>T (p.His219Tyr)	RSPH9 (H219Y +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2435487	NM_152732.5(RSPH9):c.825G>C (p.Met275Ile)	RSPH9 (A293P +3 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 12	GUncertain significance
Select item 2424354	NC_000006.11:g.(?_42162409)_(44154249_?)del	ABCC10, BICRAL +43 more	Deletion	not provided	GUncertain significance
Select item 2422887	NC_000006.11:g.(?_41126341)_(43737486_?)dup	ABCC10, BICRAL +57 more	Duplication	PRPH2-related disorder	GUncertain significance
Select item 2422814	NC_000006.11:g.(?_41126341)_(43752536_?)del	ABCC10, BICRAL +58 more	Deletion	Peroxisome biogenesis disorder	GPathogenic
Select item 2411260	NM_018135.4(MRPS18A):c.526G>A (p.Val176Met)	MRPS18A, RSPH9 (V176M)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2359481	NM_018135.4(MRPS18A):c.542T>C (p.Leu181Pro)	MRPS18A, RSPH9 (L181P)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2325800	NM_018135.4(MRPS18A):c.466C>T (p.Pro156Ser)	MRPS18A, RSPH9 (P156S)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2315309	NM_152732.5(RSPH9):c.384A>T (p.Glu128Asp)	RSPH9 (E128D)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2208139	NM_018135.4(MRPS18A):c.520A>G (p.Met174Val)	MRPS18A, RSPH9 (M174V)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2202091	NM_152732.5(RSPH9):c.591_593del (p.Lys197del)	RSPH9 (K197del +1 more)	Deletion (inframe_deletion +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2182143	NM_152732.5(RSPH9):c.393+2del	RSPH9	Deletion (splice donor variant)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 2154209	NM_152732.5(RSPH9):c.235T>C (p.Cys79Arg)	RSPH9 (C79R)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2146496	NM_152732.5(RSPH9):c.129G>A (p.Arg43=)	RSPH9	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GBenign
Select item 2135209	NM_152732.5(RSPH9):c.596A>T (p.Lys199Met)	RSPH9 (K199M +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2113079	NM_152732.5(RSPH9):c.124G>C (p.Asp42His)	RSPH9 (D42H)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2064067	NM_152732.5(RSPH9):c.11A>G (p.Asp4Gly)	RSPH9 (D4G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2063036	NM_152732.5(RSPH9):c.386A>G (p.Glu129Gly)	RSPH9 (E129G)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2051245	NM_152732.5(RSPH9):c.393+11A>C	RSPH9	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2042460	NM_152732.5(RSPH9):c.735G>A (p.Pro245=)	RSPH9 (G263R +1 more)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 2039952	NM_152732.5(RSPH9):c.227+14dup	RSPH9	Duplication (intron variant)	Primary ciliary dyskinesia	GBenign
Select item 2008250	NM_152732.5(RSPH9):c.129G>T (p.Arg43=)	RSPH9	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1999409	NM_152732.5(RSPH9):c.118C>G (p.Arg40Gly)	RSPH9 (R40G)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1998797	NM_152732.5(RSPH9):c.405G>A (p.Lys135=)	RSPH9	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1993153	NM_152732.5(RSPH9):c.227+14C>T	RSPH9	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1990900	NM_152732.5(RSPH9):c.445A>G (p.Lys149Glu)	RSPH9 (K134E +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1990565	NM_152732.5(RSPH9):c.471C>T (p.Gly157=)	RSPH9	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1986551	NM_152732.5(RSPH9):c.786C>T (p.Tyr262=)	RSPH9 (R280C +1 more)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1969300	NM_152732.5(RSPH9):c.451G>A (p.Val151Met)	RSPH9 (V151M +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1964592	NM_152732.5(RSPH9):c.159C>T (p.Leu53=)	RSPH9	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1950924	NM_152732.5(RSPH9):c.449C>T (p.Ala150Val)	RSPH9 (A135V +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1898805	NM_152732.5(RSPH9):c.128G>A (p.Arg43Gln)	RSPH9 (R43Q)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1809270	GRCh37/hg19 6p21.1(chr6:43571555-44154599)x3	CAPN11, GTPBP2 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1796571	NM_152732.5(RSPH9):c.282G>A (p.Ala94=)	RSPH9	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1783934	NM_152732.5(RSPH9):c.198C>T (p.Asp66=)	RSPH9	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1769640	NM_152732.5(RSPH9):c.131_144delinsG (p.Val44fs)	RSPH9 (V44fs)	Indel (frameshift variant +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 1767533	NM_152732.5(RSPH9):c.95T>C (p.Leu32Pro)	RSPH9 (L32P)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1760725	NM_152732.5(RSPH9):c.780C>T (p.Tyr260=)	RSPH9 (R278C +1 more)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1759840	NM_152732.5(RSPH9):c.761G>C (p.Arg254Pro)	RSPH9 (R254P +1 more)	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1758917	NM_152732.5(RSPH9):c.743C>A (p.Thr248Asn)	RSPH9 (H265Q +3 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1757710	NM_152732.5(RSPH9):c.720C>T (p.Arg240=)	RSPH9 (Q258* +1 more)	Single nucleotide variant (nonsense +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1756251	NM_152732.5(RSPH9):c.693G>A (p.Glu231=)	RSPH9 (E249K +1 more)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1754890	NM_152732.5(RSPH9):c.668A>G (p.Lys223Arg)	RSPH9 (K208R +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1732688	NM_152732.5(RSPH9):c.355G>A (p.Val119Met)	RSPH9 (V119M)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1728793	NM_152732.5(RSPH9):c.31G>A (p.Glu11Lys)	RSPH9 (E11K)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1707316	NM_152732.5(RSPH9):c.524-164C>T	RSPH9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1706939	NM_152732.5(RSPH9):c.671-104T>C	RSPH9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1676306	GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3	PAQR8, PGK2 +92 more	Copy number gain	not provided	GLikely pathogenic
Select item 1637594	NM_152732.5(RSPH9):c.671-5C>T	RSPH9	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1592671	NM_152732.5(RSPH9):c.813C>T (p.Asp271=)	RSPH9 (L289F +1 more)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia	GLikely benign

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