RSPH3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	FBXO5, FNDC1 +865 more	Copy number gain	See cases	GPathogenic
Select item 2663766	NC_000006.12:g.(?_150381239)_(159553952_?)del	LOC129997480, LOC129997522 +288 more	Deletion	Chromosome 6q24-q25 deletion syndrome	GPathogenic
Select item 150766	GRCh38/hg38 6q25.1-25.3(chr6:150381239-159553952)x1	AKAP12, ARID1B +288 more	Copy number loss	See cases	GPathogenic
Select item 154527	GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3	ACAT2, AFDN +571 more	Copy number gain	See cases	GPathogenic
Select item 153525	GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1	ACAT2, AFDN +563 more	Copy number loss	See cases	GPathogenic
Select item 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	LOC129997707, LOC129997708 +548 more	Copy number loss	See cases	GPathogenic
Select item 145547	GRCh38/hg38 6q25.2-25.3(chr6:154178964-159020369)x1	ARID1B, CLDN20 +188 more	Copy number loss	See cases	GLikely pathogenic
Select item 148306	GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1	ACAT2, AFDN +539 more	Copy number loss	See cases	GPathogenic
Select item 148765	GRCh38/hg38 6q25.3-26(chr6:155378049-163133499)x1	SOD2, SOD2-OT1 +270 more	Copy number loss	See cases	GPathogenic
Select item 58157	GRCh38/hg38 6q25.3(chr6:157827805-159726548)x3	DYNLT1, EZR +100 more	Copy number gain	See cases	GPathogenic
Select item 155551	GRCh38/hg38 6q25.3-26(chr6:158585724-160899783)x3	ACAT2, AIRN +115 more	Copy number gain	See cases	GUncertain significance
Select item 1571634	NM_031924.8(RSPH3):c.1242G>A (p.Glu414=)	RSPH3	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 32	GLikely benign
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 862245	NM_031924.8(RSPH3):c.1237G>A (p.Gly413Arg)	RSPH3 (G459R +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 32	GUncertain significance
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 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 657841	NM_031924.8(RSPH3):c.1219G>A (p.Ala407Thr)	RSPH3 (A453T +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 32	GUncertain significance
Select item 744553	NM_031924.8(RSPH3):c.1207G>A (p.Asp403Asn)	RSPH3 (D449N +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 32	GLikely benign
Select item 1170194	NM_031924.8(RSPH3):c.1194A>G (p.Glu398=)	RSPH3	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 32 +1 more	GBenign
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 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 574980	NM_031924.8(RSPH3):c.1160C>T (p.Ser387Leu)	RSPH3 (S433L +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 32	GUncertain significance
Select item 1614858	NM_031924.8(RSPH3):c.1149T>C (p.Tyr383=)	RSPH3	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 32	GLikely benign
Select item 968193	NM_031924.8(RSPH3):c.1146A>G (p.Thr382=)	RSPH3	Single nucleotide variant (synonymous 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 475825	NM_031924.8(RSPH3):c.1136A>G (p.Gln379Arg)	RSPH3 (Q425R +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 32 +1 more	GBenign
Select item 1170195	NM_031924.8(RSPH3):c.1127G>A (p.Gly376Asp)	RSPH3 (G376D +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 32 +1 more	GBenign
Select item 1102198	NM_031924.8(RSPH3):c.1110G>A (p.Glu370=)	RSPH3	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 32	GLikely benign
Select item 1355825	NM_031924.8(RSPH3):c.1106G>A (p.Arg369Gln)	RSPH3 (R415Q +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 32	GUncertain significance
Select item 1392759	NM_031924.8(RSPH3):c.1086G>C (p.Glu362Asp)	RSPH3 (E362D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Primary ciliary dyskinesia 32	GUncertain significance
Select item 977576	NM_031924.8(RSPH3):c.1082T>G (p.Leu361Arg)	RSPH3 (L361R +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia +1 more	GUncertain significance
Select item 1439471	NM_031924.8(RSPH3):c.1078T>C (p.Phe360Leu)	RSPH3 (F360L +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 32	GUncertain significance
Select item 1166973	NM_031924.8(RSPH3):c.1063C>T (p.Leu355=)	RSPH3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1009986	NM_031924.8(RSPH3):c.1048_1049insGTC (p.Ala350delinsGlyPro)	RSPH3	Insertion (inframe_indel +1 more)	Primary ciliary dyskinesia 32	GUncertain significance
Select item 1148762	NM_031924.8(RSPH3):c.1047A>T (p.Gly349=)	RSPH3	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 32	GLikely benign
Select item 945283	NM_031924.8(RSPH3):c.1046dup (p.Ala350fs)	RSPH3 (A350fs +1 more)	Duplication (frameshift variant +1 more)	Primary ciliary dyskinesia 32	GUncertain significance
Select item 836755	NM_031924.8(RSPH3):c.1039G>T (p.Gly347Cys)	RSPH3 (G393C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1105477	NM_031924.8(RSPH3):c.1038T>C (p.Gly346=)	RSPH3	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 32	GLikely benign
Select item 475824	NM_031924.8(RSPH3):c.1024G>A (p.Glu342Lys)	RSPH3 (E388K +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 32 +1 more	GBenign/Likely benign
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 800220	NM_031924.8(RSPH3):c.992A>G (p.His331Arg)	RSPH3 (H377R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 475823	NM_031924.8(RSPH3):c.992A>C (p.His331Pro)	RSPH3 (H377P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely 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 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 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 475822	NM_031924.8(RSPH3):c.956G>A (p.Arg319His)	RSPH3 (R365H +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 32 +1 more	GBenign
Select item 1044430	NM_031924.8(RSPH3):c.955C>T (p.Arg319Cys)	RSPH3 (R319C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
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 1656792	NM_031924.8(RSPH3):c.947-7T>C	RSPH3	Single nucleotide variant (intron variant)	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 1252365	NM_031924.8(RSPH3):c.947-107T>C	RSPH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222509	NM_031924.8(RSPH3):c.946+95T>C	RSPH3	Single nucleotide variant (intron variant)	not provided	GBenign
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 732204	NM_031924.8(RSPH3):c.946+8A>G	RSPH3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 32 +1 more	GLikely benign
Select item 567706	NM_031924.8(RSPH3):c.940C>T (p.Leu314Phe)	RSPH3 (L360F +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 32	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 649011	NM_031924.8(RSPH3):c.911T>C (p.Met304Thr)	RSPH3 (M350T +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 32	GUncertain significance
Select item 1439522	NM_031924.8(RSPH3):c.907dup (p.Thr303fs)	RSPH3 (T349fs +1 more)	Duplication (frameshift variant +1 more)	Primary ciliary dyskinesia 32	GUncertain significance
Select item 204501	NM_031924.8(RSPH3):c.894_897del (p.Asn298fs)	RSPH3 (N298fs +1 more)	Microsatellite (frameshift variant +1 more)	Primary ciliary dyskinesia 32	GPathogenic
Select item 1166974	NM_031924.8(RSPH3):c.890T>C (p.Met297Thr)	RSPH3 (M297T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1933268	NM_031924.8(RSPH3):c.882A>G (p.Pro294=)	RSPH3	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 32	GLikely benign
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 2420488	NM_031924.8(RSPH3):c.860-19A>G	RSPH3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 32	GLikely benign
Select item 1316318	NM_031924.8(RSPH3):c.860-280G>A	RSPH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1291983	NM_031924.8(RSPH3):c.860-288T>C	RSPH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183898	NM_031924.8(RSPH3):c.859+301C>T	RSPH3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316316	NM_031924.8(RSPH3):c.859+219T>G	RSPH3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 665656	NC_000006.12:g.(?_158980754)_(158986441_?)del	RSPH3	Deletion	Primary ciliary dyskinesia 32	GPathogenic
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 542467	NM_031924.8(RSPH3):c.859+5G>A	RSPH3	Single nucleotide variant (intron variant)	Primary ciliary dyskinesia 32	GUncertain significance
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 1514354	NM_031924.8(RSPH3):c.859+1G>A	RSPH3	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia 32	GLikely pathogenic
Select item 646621	NM_031924.8(RSPH3):c.851T>C (p.Ile284Thr)	RSPH3 (I330T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 946339	NM_031924.8(RSPH3):c.823_824del (p.Arg275fs)	RSPH3 (R321fs +1 more)	Deletion (frameshift variant +1 more)	Primary ciliary dyskinesia 32	GPathogenic
Select item 475821	NM_031924.8(RSPH3):c.824G>C (p.Arg275Thr)	RSPH3 (R321T +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 32	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 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 725209	NM_031924.8(RSPH3):c.804G>A (p.Pro268=)	RSPH3	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 32	GBenign
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 773986	NM_031924.8(RSPH3):c.795C>T (p.Asp265=)	RSPH3	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 32	GLikely benign
Select item 568995	NM_031924.8(RSPH3):c.791C>T (p.Ala264Val)	RSPH3 (A310V +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 1056691	NM_031924.8(RSPH3):c.781C>T (p.Arg261Cys)	RSPH3 (R261C +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 32	GUncertain significance
Select item 1156182	NM_031924.8(RSPH3):c.780G>A (p.Gln260=)	RSPH3	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 32	GLikely benign
Select item 720127	NM_031924.8(RSPH3):c.777A>G (p.Ala259=)	RSPH3	Single nucleotide variant (synonymous variant +1 more)	Primary ciliary dyskinesia 32	GLikely benign
Select item 475820	NM_031924.8(RSPH3):c.767G>A (p.Arg256Gln)	RSPH3 (R302Q +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 32 +1 more	GBenign/Likely benign
Select item 204500	NM_031924.8(RSPH3):c.766C>T (p.Arg256Ter)	RSPH3 (R302* +1 more)	Single nucleotide variant (nonsense +1 more)	Primary ciliary dyskinesia 32	GPathogenic
Select item 969510	NM_031924.8(RSPH3):c.763G>A (p.Ala255Thr)	RSPH3 (A301T +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 32 +1 more	GUncertain significance
Select item 1607499	NM_031924.8(RSPH3):c.762C>T (p.Ala254=)	RSPH3	Single nucleotide variant (synonymous variant +1 more)	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 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 658079	NM_031924.8(RSPH3):c.739_741del (p.Asn247del)	RSPH3 (N293del +1 more)	Deletion (inframe_deletion +1 more)	Primary ciliary dyskinesia 32	GUncertain significance
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 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 856045	NM_031924.8(RSPH3):c.704G>A (p.Arg235His)	RSPH3 (R281H +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 32	GUncertain significance
Select item 566228	NM_031924.8(RSPH3):c.703C>T (p.Arg235Cys)	RSPH3 (R281C +1 more)	Single nucleotide variant (missense variant +1 more)	Primary ciliary dyskinesia 32	GUncertain significance
Select item 542470	NM_031924.8(RSPH3):c.701G>A (p.Arg234Gln)	RSPH3 (R280Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	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 1532584	NM_031924.8(RSPH3):c.697-9del	RSPH3	Deletion (intron variant)	RSPH3-related condition +1 more	GLikely benign

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