ClinVar for Gene (Select 23332) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3267508	NM_001395891.1(CLASP1):c.467A>T (p.Asn156Ile)	CLASP1 (N156I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267507	NM_001395891.1(CLASP1):c.4216G>A (p.Ala1406Thr)	CLASP1 (A1318T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267506	NM_001395891.1(CLASP1):c.2269A>G (p.Ser757Gly)	CLASP1 (S757G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267505	NM_001395891.1(CLASP1):c.138G>A (p.Met46Ile)	CLASP1 (M46I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267504	NM_001395891.1(CLASP1):c.1264G>A (p.Ala422Thr)	CLASP1 (A422T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267503	NM_001395891.1(CLASP1):c.3841C>T (p.Arg1281Trp)	CLASP1 (R1199W +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267502	NM_001395891.1(CLASP1):c.3712C>T (p.Arg1238Cys)	CLASP1 (R1158C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267500	NM_001395891.1(CLASP1):c.3892G>A (p.Asp1298Asn)	CLASP1 (D1210N +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145296	NM_001395891.1(CLASP1):c.638A>T (p.Gln213Leu)	CLASP1 (Q213L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145295	NM_001395891.1(CLASP1):c.4160C>T (p.Ala1387Val)	CLASP1 (A1299V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145294	NM_001395891.1(CLASP1):c.4007A>G (p.Asn1336Ser)	CLASP1 (N1247S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145293	NM_001395891.1(CLASP1):c.3952C>T (p.Pro1318Ser)	CLASP1 (P1318S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145292	NM_001395891.1(CLASP1):c.3782C>T (p.Ala1261Val)	CLASP1 (A1181V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145291	NM_001395891.1(CLASP1):c.368C>T (p.Ala123Val)	CLASP1 (A123V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145290	NM_001395891.1(CLASP1):c.3751G>C (p.Gly1251Arg)	CLASP1 (G1169R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145289	NM_001395891.1(CLASP1):c.3671C>A (p.Pro1224Gln)	CLASP1 (P1135Q +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145288	NM_001395891.1(CLASP1):c.3439C>T (p.Arg1147Trp)	CLASP1 (R1126W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145286	NM_001395891.1(CLASP1):c.3110A>G (p.Asn1037Ser)	CLASP1 (N994S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145285	NM_001395891.1(CLASP1):c.2938G>A (p.Val980Ile)	CLASP1 (V937I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145284	NM_001395891.1(CLASP1):c.2608C>G (p.His870Asp)	CLASP1 (H827D +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145283	NM_001395891.1(CLASP1):c.2456C>T (p.Thr819Ile)	CLASP1 (T762I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145282	NM_001395891.1(CLASP1):c.2443C>A (p.Leu815Met)	CLASP1 (L794M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145281	NM_001395891.1(CLASP1):c.2244G>A (p.Met748Ile)	CLASP1 (M748I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145280	NM_001395891.1(CLASP1):c.2117G>A (p.Arg706Gln)	CLASP1 (R713Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145278	NM_001395891.1(CLASP1):c.2093G>A (p.Gly698Asp)	CLASP1 (G706D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145277	NM_001395891.1(CLASP1):c.2083A>G (p.Ser695Gly)	CLASP1 (S702G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145276	NM_001395891.1(CLASP1):c.1990C>T (p.Arg664Cys)	CLASP1, LOC126806337 (R664C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145275	NM_001395891.1(CLASP1):c.1955A>G (p.Asn652Ser)	CLASP1, LOC126806337 (N652S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145274	NM_001395891.1(CLASP1):c.1931G>A (p.Arg644Gln)	CLASP1, LOC126806337 (R660Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145273	NM_001395891.1(CLASP1):c.180C>A (p.Asn60Lys)	CLASP1 (N60K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145272	NM_001395891.1(CLASP1):c.1750G>A (p.Val584Ile)	CLASP1 (V584I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145271	NM_001395891.1(CLASP1):c.1637T>C (p.Ile546Thr)	CLASP1 (I546T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145270	NM_001395891.1(CLASP1):c.1240A>C (p.Ile414Leu)	CLASP1 (I414L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062651	GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1	ACOXL, ACTR3 +121 more	Copy number loss	not specified	GPathogenic
Select item 3062627	GRCh37/hg19 2q14.1-14.3(chr2:116646793-126388760)x1	C1QL2, C2orf76 +22 more	Copy number loss	not specified	GLikely pathogenic
Select item 3059617	NM_001395891.1(CLASP1):c.1311T>C (p.Ile437=)	CLASP1	Single nucleotide variant (synonymous variant)	CLASP1-related disorder	GBenign
Select item 3058136	NM_001395891.1(CLASP1):c.2601C>T (p.Gly867=)	CLASP1	Single nucleotide variant (synonymous variant)	CLASP1-related disorder	GLikely benign
Select item 3058046	NM_001395891.1(CLASP1):c.196-548G>C	CLASP1	Single nucleotide variant (intron variant)	CLASP1-related disorder	GLikely benign
Select item 3057779	NM_001395891.1(CLASP1):c.*2G>A	CLASP1	Single nucleotide variant (3 prime UTR variant)	CLASP1-related disorder	GLikely benign
Select item 3056867	NM_001395891.1(CLASP1):c.4198G>A (p.Ala1400Thr)	CLASP1 (A1311T +6 more)	Single nucleotide variant (missense variant)	CLASP1-related disorder	GUncertain significance
Select item 3051255	NM_001395891.1(CLASP1):c.4140+10del	CLASP1	Deletion (intron variant)	CLASP1-related disorder	GLikely benign
Select item 3048173	NM_001395891.1(CLASP1):c.3462C>T (p.Asp1154=)	CLASP1	Single nucleotide variant (synonymous variant +1 more)	CLASP1-related disorder	GLikely benign
Select item 3043713	NM_001395891.1(CLASP1):c.3861G>A (p.Pro1287=)	CLASP1	Single nucleotide variant (synonymous variant)	CLASP1-related disorder	GLikely benign
Select item 3042897	NM_001395891.1(CLASP1):c.794G>C (p.Ser265Thr)	CLASP1 (S265T)	Single nucleotide variant (missense variant)	CLASP1-related disorder	GBenign
Select item 3037345	NM_001395891.1(CLASP1):c.3740C>A (p.Thr1247Asn)	CLASP1 (T1158N +6 more)	Single nucleotide variant (missense variant)	CLASP1-related disorder	GBenign
Select item 3037270	NM_001395891.1(CLASP1):c.196-690G>A	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	CLASP1-related disorder	GLikely benign
Select item 3037069	NM_001395891.1(CLASP1):c.3653A>T (p.Gln1218Leu)	CLASP1 (Q1129L +6 more)	Single nucleotide variant (missense variant)	CLASP1-related disorder	GUncertain significance
Select item 3034723	NM_001395891.1(CLASP1):c.1302G>A (p.Arg434=)	CLASP1	Single nucleotide variant (synonymous variant)	CLASP1-related disorder	GLikely benign
Select item 3033988	NM_001395891.1(CLASP1):c.196-554A>G	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	CLASP1-related disorder	GLikely benign
Select item 3033199	NM_001395891.1(CLASP1):c.3860C>T (p.Pro1287Leu)	CLASP1 (P1198L +6 more)	Single nucleotide variant (missense variant)	CLASP1-related disorder	GLikely benign
Select item 3022545	NC_000002.12:g.121531004A>T	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3020809	NC_000002.12:g.121530955C>G	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2979089	NC_000002.12:g.121531001T>G	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2975937	NC_000002.12:g.121530964A>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2813456	NC_000002.12:g.121531003G>T	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 2795914	NC_000002.12:g.121530907C>G	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2674599	NM_001395891.1(CLASP1):c.196-589T>G	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	Osteodysplastic primordial dwarfism, type 1	GLikely pathogenic
Select item 2651323	NM_001395891.1(CLASP1):c.1602A>G (p.Lys534=)	CLASP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2634827	NM_001395891.1(CLASP1):c.692A>G (p.Asn231Ser)	CLASP1 (N231S)	Single nucleotide variant (missense variant)	CLASP1-related disorder	GUncertain significance
Select item 2633759	NM_001395891.1(CLASP1):c.3166A>G (p.Lys1056Glu)	CLASP1 (K1006E +6 more)	Single nucleotide variant (missense variant)	CLASP1-related disorder	GUncertain significance
Select item 2631594	NM_001395891.1(CLASP1):c.340C>G (p.Leu114Val)	CLASP1 (L114V)	Single nucleotide variant (missense variant)	CLASP1-related disorder	GUncertain significance
Select item 2621743	NM_001395891.1(CLASP1):c.3356G>A (p.Arg1119Gln)	CLASP1 (R1098Q +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611135	NM_001395891.1(CLASP1):c.338C>T (p.Thr113Ile)	CLASP1 (T113I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607150	NM_001395891.1(CLASP1):c.746G>A (p.Gly249Asp)	CLASP1 (G249D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602086	NM_001395891.1(CLASP1):c.1633A>G (p.Ser545Gly)	CLASP1 (S545G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600781	NM_001395891.1(CLASP1):c.4070G>A (p.Ser1357Asn)	CLASP1 (S1357N +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600378	NM_001395891.1(CLASP1):c.2215C>T (p.Arg739Trp)	CLASP1 (R739W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554722	NM_001395891.1(CLASP1):c.2706C>G (p.Asn902Lys)	CLASP1 (N902K +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541668	NM_001395891.1(CLASP1):c.3227C>G (p.Thr1076Ser)	CLASP1 (T1033S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532898	NM_001395891.1(CLASP1):c.3775C>T (p.Arg1259Trp)	CLASP1 (R1171W +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523746	NM_001395891.1(CLASP1):c.3445T>C (p.Trp1149Arg)	CLASP1 (W1149R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521021	NM_001395891.1(CLASP1):c.2125C>T (p.Pro709Ser)	CLASP1 (P709S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498871	GRCh37/hg19 2q14.2(chr2:121981917-122363471)x1	CLASP1, RNU4ATAC +1 more	Copy number loss	not provided	GPathogenic
Select item 2427795	NC_000002.11:g.(?_121684917)_(122288605_?)del	CLASP1, GLI2 +2 more	Deletion	not provided	GUncertain significance
Select item 2273029	NM_001395891.1(CLASP1):c.3611G>A (p.Arg1204His)	CLASP1 (R1124H +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234535	NM_001395891.1(CLASP1):c.1076A>G (p.Tyr359Cys)	CLASP1 (Y359C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2151941	NC_000002.12:g.121530908T>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2151940	NC_000002.12:g.121530892C>G	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 2121844	NC_000002.12:g.121530954_121530955insT	CLASP1, RNU4ATAC	Insertion (intron variant)	not provided	GUncertain significance
Select item 2114564	NC_000002.12:g.121530936A>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2112464	NR_023343.3(RNU4ATAC):n.99_105delTTGCTTT	CLASP1, RNU4ATAC	Deletion (intron variant)	not provided	GUncertain significance
Select item 2101431	NC_000002.12:g.121530989T>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2098732	NC_000002.12:g.121530942A>T	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2092560	NC_000002.12:g.121530998T>A	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2087135	NC_000002.12:g.121531009_121531013dup	CLASP1, RNU4ATAC	Duplication (intron variant)	not provided	GUncertain significance
Select item 2086571	NC_000002.12:g.121531006A>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2024741	NR_023343.3(RNU4ATAC):n.109_115dup	CLASP1, RNU4ATAC	Duplication (intron variant)	not provided	GUncertain significance
Select item 2013493	NC_000002.12:g.121531009del	CLASP1, RNU4ATAC	Deletion (intron variant)	not provided	GUncertain significance
Select item 2008408	NC_000002.12:g.121530948T>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1990820	NC_000002.12:g.121531009T>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1989614	NC_000002.12:g.121530980G>A	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1989181	NM_001395891.1(CLASP1):c.196-587G>A	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1978446	NC_000002.12:g.121530884A>T	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1975828	NC_000002.12:g.121530961C>A	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1971292	NC_000002.12:g.121530966C>G	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1962629	NR_023343.3(RNU4ATAC):n.111_119dup	CLASP1, RNU4ATAC	Duplication (intron variant)	not provided	GUncertain significance
Select item 1961939	NR_023343.3(RNU4ATAC):n.124dup	RNU4ATAC, CLASP1	Duplication (intron variant)	not provided	GUncertain significance
Select item 1960903	NC_000002.12:g.121530967A>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1954361	NC_000002.12:g.121530900T>A	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1944546	NM_001395891.1(CLASP1):c.196-562G>C	CLASP1, RNU4ATAC	Single nucleotide variant (intron variant)	Roifman syndrome +1 more	GConflicting classifications of pathogenicity

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