ClinVar for Gene (Select 345895) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 379

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3315569	NM_001010892.3(RSPH4A):c.1424C>A (p.Pro475His)	RSPH4A (P475H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3315568	NM_001010892.3(RSPH4A):c.1033A>G (p.Thr345Ala)	RSPH4A (T345A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3315567	NM_001010892.3(RSPH4A):c.646G>A (p.Ala216Thr)	RSPH4A (A216T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3242312	GRCh37/hg19 6q21-22.31(chr6:109324789-124836619)x1	AK9, AMD1 +70 more	Copy number loss	not provided	GPathogenic
Select item 3236432	NM_001010892.3(RSPH4A):c.103T>C (p.Ser35Pro)	LOC129997052, RSPH4A (S35P)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 11	GUncertain significance
Select item 3232356	NM_001010892.3(RSPH4A):c.1376A>T (p.Lys459Met)	RSPH4A (K459M)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3156723	NM_001010892.3(RSPH4A):c.1813C>A (p.Pro605Thr)	RSPH4A (Y559* +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 3156722	NM_001010892.3(RSPH4A):c.1185A>C (p.Glu395Asp)	RSPH4A (E395D)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3156721	NM_001010892.3(RSPH4A):c.1021C>T (p.Leu341Phe)	RSPH4A (L341F)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3062896	GRCh37/hg19 6q21-23.2(chr6:110546061-131896074)x3	AKAP7, AMD1 +87 more	Copy number gain	not specified	GLikely pathogenic
Select item 3016010	NM_001010892.3(RSPH4A):c.1165G>A (p.Glu389Lys)	RSPH4A (E389K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 3014795	NM_001010892.3(RSPH4A):c.686+13G>A	RSPH4A	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 3013770	NM_001010892.3(RSPH4A):c.921+2T>C	RSPH4A	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 2991948	NM_001010892.3(RSPH4A):c.1873C>T (p.Gln625Ter)	RSPH4A (Q625*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2986025	NM_001010892.3(RSPH4A):c.1082G>A (p.Gly361Asp)	RSPH4A (G361D)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely pathogenic
Select item 2954703	NM_001010892.3(RSPH4A):c.1852C>T (p.Gln618Ter)	RSPH4A (Q618*)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2909509	NM_001010892.3(RSPH4A):c.1917-15T>G	RSPH4A	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2901347	NM_001010892.3(RSPH4A):c.1248T>A (p.Ala416=)	RSPH4A	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2897085	NM_001010892.3(RSPH4A):c.1662+8C>A	RSPH4A	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2860326	NM_001010892.3(RSPH4A):c.1932_1935del (p.Phe644fs)	RSPH4A (S599fs +1 more)	Deletion (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 2859257	NM_001010892.3(RSPH4A):c.1370A>G (p.Lys457Arg)	RSPH4A (K457R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2837908	NM_001010892.3(RSPH4A):c.1663-16C>T	RSPH4A	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2814304	NM_001010892.3(RSPH4A):c.1131A>G (p.Glu377=)	RSPH4A	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2803777	NM_001010892.3(RSPH4A):c.1821G>A (p.Trp607Ter)	RSPH4A (G562E +1 more)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia	GPathogenic
Select item 2789587	NM_001010892.3(RSPH4A):c.1419C>T (p.Tyr473=)	RSPH4A	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2752159	NM_001010892.3(RSPH4A):c.1641T>C (p.His547=)	RSPH4A	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2729063	NM_001010892.3(RSPH4A):c.1086G>C (p.Leu362=)	RSPH4A	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2719152	NM_001010892.3(RSPH4A):c.782T>C (p.Met261Thr)	RSPH4A (M261T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2717776	NM_001010892.3(RSPH4A):c.1287T>C (p.Tyr429=)	RSPH4A	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2703393	NM_001010892.3(RSPH4A):c.375T>C (p.Pro125=)	RSPH4A	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2697025	NM_001010892.3(RSPH4A):c.716A>G (p.Lys239Arg)	RSPH4A (K239R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2656866	NM_001010892.3(RSPH4A):c.759A>G (p.Glu253=)	RSPH4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656865	NM_001010892.3(RSPH4A):c.39C>T (p.Asn13=)	RSPH4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2633353	NM_001010892.3(RSPH4A):c.1752A>C (p.Glu584Asp)	RSPH4A (E584D)	Single nucleotide variant (missense variant +1 more)	RSPH4A-related disorder	GUncertain significance
Select item 2630542	NM_001010892.3(RSPH4A):c.235del (p.Thr79fs)	RSPH4A (T79fs)	Deletion (frameshift variant)	RSPH4A-related disorder	GLikely pathogenic
Select item 2626072	NM_001010892.3(RSPH4A):c.694C>A (p.His232Asn)	RSPH4A (H232N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2579265	GRCh38/hg38 6q21-23.1(chr6:113857248-130442177)x1	ARHGAP18, ASF1A +316 more	Copy number loss	Intellectual disability, autosomal dominant 55, with seizures	GPathogenic
Select item 2574685	GRCh37/hg19 6q21-22.31(chr6:112713854-124105184)	ASF1A, CALHM4 +39 more	Copy number loss	6q terminal deletion syndrome	GLikely pathogenic
Select item 2571259	NM_001010892.3(RSPH4A):c.1105G>C (p.Ala369Pro)	RSPH4A (A369P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2564170	NM_001010892.3(RSPH4A):c.1268G>C (p.Arg423Thr)	RSPH4A (R423T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2559558	NM_001010892.3(RSPH4A):c.896T>C (p.Val299Ala)	RSPH4A (V299A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2551581	NM_001010892.3(RSPH4A):c.806A>C (p.Asp269Ala)	RSPH4A (D269A)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2544889	NM_001010892.3(RSPH4A):c.394T>A (p.Ser132Thr)	RSPH4A (S132T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2488387	NM_001010892.3(RSPH4A):c.1250T>A (p.Ile417Lys)	RSPH4A (I417K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2451393	NM_001010892.3(RSPH4A):c.92C>T (p.Ser31Phe)	LOC129997052, RSPH4A (S31F)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2451385	NM_001010892.3(RSPH4A):c.91T>C (p.Ser31Pro)	LOC129997052, RSPH4A (S31P)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2449372	NM_001010892.3(RSPH4A):c.1817C>T (p.Pro606Leu)	RSPH4A (P561S +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2435486	NM_001010892.3(RSPH4A):c.1829G>A (p.Arg610Gln)	RSPH4A (G565S +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia 11 +1 more	GUncertain significance
Select item 2427242	NC_000006.11:g.(?_116441236)_(119252888_?)del	ASF1A, CALHM4 +24 more	Deletion	Congenital disorder of glycosylation, type IAA	GPathogenic
Select item 2419399	NM_001010892.3(RSPH4A):c.413C>A (p.Thr138Asn)	RSPH4A (T138N)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2417260	NM_001010892.3(RSPH4A):c.462_469del (p.Gln155fs)	RSPH4A (Q155fs)	Deletion (frameshift variant)	Primary ciliary dyskinesia	GPathogenic
Select item 2414164	NM_001010892.3(RSPH4A):c.943G>A (p.Val315Ile)	RSPH4A (V315I)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 2390140	NM_001010892.3(RSPH4A):c.1003T>C (p.Tyr335His)	RSPH4A (Y335H)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2389104	NM_001010892.3(RSPH4A):c.1180G>A (p.Gly394Arg)	RSPH4A (G394R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2347750	NM_001010892.3(RSPH4A):c.1060C>T (p.Arg354Cys)	RSPH4A (R354C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2347502	NM_001010892.3(RSPH4A):c.157C>T (p.Arg53Cys)	LOC129997052, RSPH4A (R53C)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2313261	NM_001010892.3(RSPH4A):c.1378A>C (p.Lys460Gln)	RSPH4A (K460Q)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2311342	NM_001010892.3(RSPH4A):c.1527A>T (p.Glu509Asp)	RSPH4A (E509D)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2302781	NM_001010892.3(RSPH4A):c.727G>A (p.Glu243Lys)	RSPH4A (E243K)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2288696	NM_001010892.3(RSPH4A):c.832C>T (p.Leu278Phe)	RSPH4A (L278F)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2201129	NM_001010892.3(RSPH4A):c.1798+11G>C	RSPH4A	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2190341	NM_001010892.3(RSPH4A):c.396T>C (p.Ser132=)	RSPH4A	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2174130	NM_001010892.3(RSPH4A):c.921+11A>T	RSPH4A	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2174129	NM_001010892.3(RSPH4A):c.814C>G (p.Gln272Glu)	RSPH4A (Q272E)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2165091	NM_001010892.3(RSPH4A):c.511G>C (p.Ala171Pro)	RSPH4A (A171P)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2164944	NM_001010892.3(RSPH4A):c.1237G>A (p.Ala413Thr)	RSPH4A (A413T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2156971	NM_001010892.3(RSPH4A):c.1193C>T (p.Ala398Val)	RSPH4A (A398V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2155169	NM_001010892.3(RSPH4A):c.1814C>G (p.Pro605Arg)	RSPH4A (P605R +1 more)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2131276	NM_001010892.3(RSPH4A):c.570T>C (p.Tyr190=)	RSPH4A	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2119359	NM_001010892.3(RSPH4A):c.2011A>G (p.Ser671Gly)	RSPH4A (S671G)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 2119135	NM_001010892.3(RSPH4A):c.882A>C (p.Gly294=)	RSPH4A	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2113289	NM_001010892.3(RSPH4A):c.72G>A (p.Trp24Ter)	LOC129997052, RSPH4A (W24*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 2113049	NM_001010892.3(RSPH4A):c.1078T>C (p.Leu360=)	RSPH4A	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2109740	NM_001010892.3(RSPH4A):c.389A>G (p.Gln130Arg)	RSPH4A (Q130R)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2109649	NM_001010892.3(RSPH4A):c.224C>T (p.Ala75Val)	RSPH4A (A75V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2101309	NM_001010892.3(RSPH4A):c.764T>C (p.Ile255Thr)	RSPH4A (I255T)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2099866	NM_001010892.3(RSPH4A):c.512C>T (p.Ala171Val)	RSPH4A (A171V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2088330	NM_001010892.3(RSPH4A):c.1917-2A>C	RSPH4A	Single nucleotide variant (splice acceptor variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2055966	NM_001010892.3(RSPH4A):c.1395A>C (p.Arg465=)	RSPH4A	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2054972	NM_001010892.3(RSPH4A):c.1261G>T (p.Glu421Ter)	RSPH4A (E421*)	Single nucleotide variant (nonsense)	Primary ciliary dyskinesia	GPathogenic
Select item 2037807	NM_001010892.3(RSPH4A):c.613A>G (p.Ser205Gly)	RSPH4A (S205G)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2011218	NM_001010892.3(RSPH4A):c.104C>A (p.Ser35Tyr)	LOC129997052, RSPH4A (S35Y)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2010566	NM_001010892.3(RSPH4A):c.144G>T (p.Gly48=)	LOC129997052, RSPH4A	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2009429	NM_001010892.3(RSPH4A):c.266A>G (p.Glu89Gly)	RSPH4A (E89G)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2005799	NM_001010892.3(RSPH4A):c.1487A>C (p.His496Pro)	RSPH4A (H496P)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 2004405	NM_001010892.3(RSPH4A):c.1113G>A (p.Val371=)	RSPH4A	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1981921	NM_001010892.3(RSPH4A):c.15C>T (p.Thr5=)	RSPH4A	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1951997	NM_001010892.3(RSPH4A):c.1548A>T (p.Ala516=)	RSPH4A	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1942773	NM_001010892.3(RSPH4A):c.18C>T (p.Ser6=)	RSPH4A	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1913707	NM_001010892.3(RSPH4A):c.1628A>G (p.Asn543Ser)	RSPH4A (N543S)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1906431	NM_001010892.3(RSPH4A):c.465A>G (p.Gln155=)	RSPH4A	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 1883788	NM_001010892.3(RSPH4A):c.922-11T>G	RSPH4A	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1808570	GRCh37/hg19 6q22.1(chr6:116787149-116953270)x1	CALHM4, CALHM5 +3 more	Copy number loss	not provided	GUncertain significance
Select item 1793774	NM_001010892.3(RSPH4A):c.260C>T (p.Pro87Leu)	RSPH4A (P87L)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1786882	NM_001010892.3(RSPH4A):c.215G>T (p.Gly72Val)	RSPH4A (G72V)	Single nucleotide variant (missense variant)	Primary ciliary dyskinesia	GUncertain significance
Select item 1785770	NM_001010892.3(RSPH4A):c.2094C>T (p.Leu698=)	RSPH4A	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia	GLikely benign
Select item 1785765	NM_001010892.3(RSPH4A):c.2093T>G (p.Leu698Arg)	RSPH4A (L698R)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1783712	NM_001010892.3(RSPH4A):c.1976C>T (p.Pro659Leu)	RSPH4A (P659L)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1782964	NM_001010892.3(RSPH4A):c.1936A>G (p.Ile646Val)	RSPH4A (I646V)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance
Select item 1782925	NM_001010892.3(RSPH4A):c.1933T>C (p.Tyr645His)	RSPH4A (Y645H)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia	GUncertain significance

<< First< Prev

Page of 4