ClinVar for Gene (Select 83861) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3156719	NM_031924.8(RSPH3):c.506A>G (p.Asp169Gly)	RSPH3 (D215G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3156718	NM_031924.8(RSPH3):c.260C>G (p.Ala87Gly)	RSPH3 (A87G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3156717	NM_031924.8(RSPH3):c.70G>A (p.Ala24Thr)	RSPH3 (A166T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3156716	NM_031924.8(RSPH3):c.-2A>C	RSPH3 (D142A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3156715	NM_031924.8(RSPH3):c.-224C>T	RSPH3 (A68V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3156714	NM_031924.8(RSPH3):c.1240G>A (p.Glu414Lys)	RSPH3 (E460K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3156713	NM_031924.8(RSPH3):c.1220C>T (p.Ala407Val)	RSPH3 (A407V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3156712	NM_031924.8(RSPH3):c.823A>G (p.Arg275Gly)	RSPH3 (R321G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3156711	NM_031924.8(RSPH3):c.698A>G (p.Glu233Gly)	RSPH3 (E233G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3156710	NM_031924.8(RSPH3):c.659G>A (p.Arg220Gln)	RSPH3 (R266Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3148927	GRCh37/hg19 6q25.2-27(chr6:152853218-170914297)x1	ACAT2, AFDN +79 more	Copy number loss	See cases	GPathogenic
Select item 3058835	NM_031924.8(RSPH3):c.-292T>A	RSPH3	Single nucleotide variant (synonymous variant +2 more)	RSPH3-related condition	GLikely benign
Select item 3055017	NM_031924.8(RSPH3):c.-85dup	RSPH3 (H115fs)	Duplication (frameshift variant +2 more)	RSPH3-related condition	GLikely pathogenic
Select item 3033091	NM_031924.8(RSPH3):c.1233C>G (p.Ser411=)	RSPH3	Single nucleotide variant (synonymous variant +1 more)	RSPH3-related condition	GLikely benign
Select item 3023133	NM_031924.8(RSPH3):c.621T>C (p.Tyr207=)	RSPH3	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 32	GLikely benign
Select item 3013907	NM_031924.8(RSPH3):c.732C>A (p.His244Gln)	RSPH3 (H244Q +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 32	GUncertain significance
Select item 3000614	NM_031924.8(RSPH3):c.859+7A>G	RSPH3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 32	GLikely benign
Select item 2993545	NM_031924.8(RSPH3):c.-19A>G	RSPH3	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia 32	GLikely benign
Select item 2990919	NM_031924.8(RSPH3):c.-259A>T	RSPH3	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia 32	GLikely benign
Select item 2980542	NM_031924.8(RSPH3):c.859+1G>T	RSPH3	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia 32	GPathogenic
Select item 2971579	NM_031924.8(RSPH3):c.-232C>G	RSPH3	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia 32	GLikely benign
Select item 2920036	NM_031924.8(RSPH3):c.-10G>A	RSPH3	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia 32	GLikely benign
Select item 2919005	NM_031924.8(RSPH3):c.207C>T (p.Leu69=)	RSPH3	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia 32	GLikely benign
Select item 2916428	NM_031924.8(RSPH3):c.346+14C>T	RSPH3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 32	GLikely benign
Select item 2915610	NM_031924.8(RSPH3):c.177C>T (p.Asn59=)	RSPH3	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 32	GLikely benign
Select item 2911225	NM_031924.8(RSPH3):c.950T>C (p.Leu317Ser)	RSPH3 (L317S +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 32	GUncertain significance
Select item 2911215	NM_031924.8(RSPH3):c.697-12C>T	RSPH3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 32	GLikely benign
Select item 2910271	NM_031924.8(RSPH3):c.618G>A (p.Glu206=)	RSPH3	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 32	GLikely benign
Select item 2895815	NM_031924.8(RSPH3):c.-273G>T	RSPH3 (E52*)	Single nucleotide variant (nonsense +2 more)	Primary ciliary dyskinesia 32	GPathogenic
Select item 2881361	NM_031924.8(RSPH3):c.548C>A (p.Thr183Lys)	RSPH3 (T229K +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 32	GUncertain significance
Select item 2879829	NM_031924.8(RSPH3):c.116+7G>A	RSPH3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 32	GLikely benign
Select item 2878919	NM_031924.8(RSPH3):c.-292T>C	RSPH3	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia 32	GLikely benign
Select item 2849413	NM_031924.8(RSPH3):c.947-15C>T	RSPH3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 32	GLikely benign
Select item 2843362	NM_031924.8(RSPH3):c.-5del	RSPH3 (P141fs)	Deletion (frameshift variant +2 more)	Primary ciliary dyskinesia 32	GPathogenic
Select item 2836824	NM_031924.8(RSPH3):c.204+20T>C	RSPH3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 32	GLikely benign
Select item 2834316	NM_031924.8(RSPH3):c.205-11A>G	RSPH3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 32	GLikely benign
Select item 2830017	NM_031924.8(RSPH3):c.812T>C (p.Phe271Ser)	RSPH3 (F271S +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 32	GUncertain significance
Select item 2827296	NM_031924.8(RSPH3):c.-109G>A	RSPH3	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia 32	GLikely benign
Select item 2821915	NM_031924.8(RSPH3):c.346+10T>C	RSPH3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 32	GLikely benign
Select item 2809812	NM_031924.8(RSPH3):c.717G>A (p.Gln239=)	RSPH3	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 32	GLikely benign
Select item 2804278	NM_031924.8(RSPH3):c.-88_-86del	RSPH3	Deletion (nonsense +2 more)	Primary ciliary dyskinesia 32	GPathogenic
Select item 2788827	NM_031924.8(RSPH3):c.-211T>C	RSPH3	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia 32	GLikely benign
Select item 2784544	NM_031924.8(RSPH3):c.458G>A (p.Gly153Asp)	RSPH3 (G153D)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia 32	GUncertain significance
Select item 2776198	NM_031924.8(RSPH3):c.589C>T (p.Leu197=)	RSPH3	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 32	GLikely benign
Select item 2753534	NM_031924.8(RSPH3):c.628C>A (p.Leu210Ile)	RSPH3 (L210I +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 32	GUncertain significance
Select item 2731242	NM_031924.8(RSPH3):c.204+18A>G	RSPH3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 32	GLikely benign
Select item 2725965	NM_031924.8(RSPH3):c.747A>G (p.Thr249=)	RSPH3	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 32	GLikely benign
Select item 2716793	NM_031924.8(RSPH3):c.-356G>T	RSPH3, TAGAP-AS1 (G24V)	Single nucleotide variant (non-coding transcript variant +2 more)	Primary ciliary dyskinesia 32	GUncertain significance
Select item 2693983	NM_031924.8(RSPH3):c.221C>G (p.Ser74Cys)	RSPH3 (S74C)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia 32	GUncertain significance
Select item 2671830	NM_031924.8(RSPH3):c.280C>T (p.Gln94Ter)	RSPH3 (Q94*)	Single nucleotide variant (nonsense +2 more)	Primary ciliary dyskinesia 32	GLikely pathogenic
Select item 2663766	NC_000006.12:g.(?_150381239)_(159553952_?)del	LOC129997480, LOC129997522 +288 more	Deletion	Chromosome 6q24-q25 deletion syndrome	GPathogenic
Select item 2618300	NM_031924.8(RSPH3):c.1016C>T (p.Pro339Leu)	RSPH3 (P339L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2603992	NM_031924.8(RSPH3):c.-261C>A	RSPH3 (P56T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2571271	GRCh37/hg19 6q25.3-27(chr6:159006336-170713678)x3	ACAT2, AFDN +54 more	Copy number gain	not provided	GUncertain significance
Select item 2535136	NM_031924.8(RSPH3):c.-401C>A	RSPH3, TAGAP-AS1 (A9D)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2530305	NM_031924.8(RSPH3):c.334G>A (p.Asp112Asn)	RSPH3 (D112N)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2527188	NM_031924.8(RSPH3):c.934A>G (p.Thr312Ala)	RSPH3 (T312A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2481612	NM_031924.8(RSPH3):c.1181T>C (p.Met394Thr)	RSPH3 (M394T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2427078	NC_000006.11:g.(?_158532398)_(162868359_?)del	ACAT2, AGPAT4 +26 more	Deletion	not provided	GPathogenic
Select item 2424634	NM_031924.8(RSPH3):c.-389G>C	RSPH3, TAGAP-AS1 (R13T)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia 32	GUncertain significance
Select item 2420488	NM_031924.8(RSPH3):c.860-19A>G	RSPH3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 32	GLikely benign
Select item 2417013	NM_031924.8(RSPH3):c.-203G>C	RSPH3 (G75A)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia 32	GUncertain significance
Select item 2316539	NM_031924.8(RSPH3):c.643C>T (p.Arg215Cys)	RSPH3 (R261C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2272541	NM_031924.8(RSPH3):c.-260C>A	RSPH3 (P56Q)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2199346	NM_031924.8(RSPH3):c.-250C>T	RSPH3	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia 32	GLikely benign
Select item 2182327	NM_031924.8(RSPH3):c.203T>A (p.Leu68Gln)	RSPH3 (L210Q +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 32	GUncertain significance
Select item 2171089	NM_031924.8(RSPH3):c.789G>A (p.Leu263=)	RSPH3	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 32	GLikely benign
Select item 2161249	NM_031924.8(RSPH3):c.-418C>G	RSPH3, TAGAP-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	Primary ciliary dyskinesia 32	GLikely benign
Select item 2159127	NM_031924.8(RSPH3):c.946+20A>T	RSPH3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 32	GLikely benign
Select item 2158609	NM_031924.8(RSPH3):c.799C>T (p.Leu267Phe)	RSPH3 (L267F +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 32	GUncertain significance
Select item 2158326	NM_031924.8(RSPH3):c.1141A>G (p.Thr381Ala)	RSPH3 (T381A +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 32 +1 more	GUncertain significance
Select item 2143865	NM_031924.8(RSPH3):c.-405G>A	RSPH3, TAGAP-AS1 (A8T)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia 32	GUncertain significance
Select item 2143864	NM_031924.8(RSPH3):c.241C>T (p.Arg81Trp)	RSPH3 (R81W)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia 32	GUncertain significance
Select item 2139945	NM_031924.8(RSPH3):c.149T>C (p.Met50Thr)	RSPH3 (M192T +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 32	GUncertain significance
Select item 2139030	NM_031924.8(RSPH3):c.741C>T (p.Asn247=)	RSPH3	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 32	GLikely benign
Select item 2132046	NM_031924.8(RSPH3):c.493-8T>A	RSPH3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 32	GUncertain significance
Select item 2122176	NM_031924.8(RSPH3):c.-357G>A	RSPH3, TAGAP-AS1 (G24S)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia 32	GUncertain significance
Select item 2113387	NM_031924.8(RSPH3):c.116+12A>T	RSPH3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 32	GLikely benign
Select item 2101028	NM_031924.8(RSPH3):c.-306C>G	RSPH3 (L41V)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia 32	GUncertain significance
Select item 2099826	NM_031924.8(RSPH3):c.648T>C (p.Ala216=)	RSPH3	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 32	GLikely benign
Select item 2098822	NM_031924.8(RSPH3):c.492+4C>T	RSPH3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 32	GUncertain significance
Select item 2092510	NM_031924.8(RSPH3):c.-375C>G	RSPH3, TAGAP-AS1 (R18G)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia 32	GUncertain significance
Select item 2084427	NM_031924.8(RSPH3):c.-138C>G	RSPH3 (P97A)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia 32	GUncertain significance
Select item 2083584	NM_031924.8(RSPH3):c.644G>A (p.Arg215His)	RSPH3 (R215H +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 32	GUncertain significance
Select item 2057549	NM_031924.8(RSPH3):c.347-11del	RSPH3	Deletion (intron variant)	Primary ciliary dyskinesia 32	GLikely benign
Select item 2057449	NM_031924.8(RSPH3):c.973A>C (p.Arg325=)	RSPH3	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 32	GLikely benign
Select item 2053348	NM_031924.8(RSPH3):c.346+17T>C	RSPH3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 32	GLikely benign
Select item 2044779	NM_031924.8(RSPH3):c.-421G>A	RSPH3, TAGAP-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	Primary ciliary dyskinesia 32	GLikely benign
Select item 2044341	NM_031924.8(RSPH3):c.483A>G (p.Leu161=)	RSPH3	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia 32	GLikely benign
Select item 2042445	NM_031924.8(RSPH3):c.976C>T (p.Leu326=)	RSPH3	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 32	GLikely benign
Select item 2035741	NM_031924.8(RSPH3):c.636T>G (p.Asn212Lys)	RSPH3 (N212K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2024936	NM_031924.8(RSPH3):c.1173del (p.Lys392fs)	RSPH3 (K438fs +1 more)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia 32	GUncertain significance
Select item 2020052	NM_031924.8(RSPH3):c.-396C>G	RSPH3, TAGAP-AS1 (L11V)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia 32	GUncertain significance
Select item 2019053	NM_031924.8(RSPH3):c.288G>A (p.Gln96=)	RSPH3	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia 32	GLikely benign
Select item 1985000	NM_031924.8(RSPH3):c.-151G>T	RSPH3	Single nucleotide variant (synonymous variant +2 more)	Primary ciliary dyskinesia 32	GLikely benign
Select item 1984933	NM_031924.8(RSPH3):c.986A>G (p.Tyr329Cys)	RSPH3 (Y329C +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 32	GUncertain significance
Select item 1981667	NM_031924.8(RSPH3):c.-126C>A	RSPH3 (P101T)	Single nucleotide variant (missense variant +2 more)	Primary ciliary dyskinesia 32	GUncertain significance
Select item 1971808	NM_031924.8(RSPH3):c.864T>C (p.Ile288=)	RSPH3	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 32	GLikely benign
Select item 1970481	NM_031924.8(RSPH3):c.170G>A (p.Arg57Gln)	RSPH3 (R199Q +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 32	GUncertain significance
Select item 1963933	NM_031924.8(RSPH3):c.179C>G (p.Thr60Ser)	RSPH3 (T60S +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 32	GUncertain significance

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