CLSTN1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	ACAP3, ACOT7 +806 more	Copy number loss	See cases	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 148387	GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1	AADACL3, AADACL4 +500 more	Copy number loss	See cases	GPathogenic
Select item 59856	GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1	LOC129929435, LOC129929436 +505 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 148885	GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	LOC129929327, LOC129929328 +557 more	Copy number loss	See cases	GPathogenic
Select item 154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	AADACL3, AADACL4 +563 more	Copy number gain	See cases	GPathogenic
Select item 58051	GRCh38/hg38 1p36.31-36.21(chr1:6652339-12724844)x3	AADACL3, AADACL4 +387 more	Copy number gain	See cases	GPathogenic
Select item 59884	GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1	AADACL3, AADACL4 +386 more	Copy number loss	See cases	GPathogenic
Select item 146535	GRCh38/hg38 1p36.23-36.22(chr1:8283694-12470133)x1	AGTRAP, ANGPTL7 +309 more	Copy number loss	See cases	GPathogenic
Select item 148048	GRCh38/hg38 1p36.23-36.22(chr1:8804244-10102950)x3	CA6, CLSTN1 +107 more	Copy number gain	See cases	GUncertain significance
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 144297	GRCh38/hg38 1p36.23-36.21(chr1:9064492-12666744)x1	AADACL4, AGTRAP +280 more	Copy number loss	See cases	GPathogenic
Select item 153432	GRCh38/hg38 1p36.22(chr1:9378480-10317912)x3	CLSTN1, CTNNBIP1 +69 more	Copy number gain	See cases	GUncertain significance
Select item 152293	GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1	AADACL3, AADACL4 +370 more	Copy number loss	See cases	GPathogenic
Select item 3146040	NM_001009566.3(CLSTN1):c.2933C>T (p.Thr978Ile)	CLSTN1 (T978I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638191	NM_001009566.3(CLSTN1):c.2853G>C (p.Glu951Asp)	CLSTN1 (E932D +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2387636	NM_001009566.3(CLSTN1):c.2852A>G (p.Glu951Gly)	CLSTN1 (E941G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606027	NM_001009566.3(CLSTN1):c.2815G>A (p.Gly939Ser)	CLSTN1 (G929S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495716	NM_001009566.3(CLSTN1):c.2732C>G (p.Thr911Ser)	CLSTN1 (T911S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525732	NM_001009566.3(CLSTN1):c.2686G>A (p.Gly896Arg)	CLSTN1 (G896R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347624	NM_001009566.3(CLSTN1):c.2672G>A (p.Arg891Gln)	CLSTN1 (R872Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365039	NM_001009566.3(CLSTN1):c.2657A>G (p.His886Arg)	CLSTN1 (H867R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146039	NM_001009566.3(CLSTN1):c.2546A>G (p.Asn849Ser)	CLSTN1 (N830S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2366484	NM_001009566.3(CLSTN1):c.2444C>T (p.Thr815Met)	CLSTN1 (T805M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 735894	NM_001009566.3(CLSTN1):c.2427+9A>G	CLSTN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2525843	NM_001009566.3(CLSTN1):c.2371A>C (p.Lys791Gln)	CLSTN1 (K781Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603272	NM_001009566.3(CLSTN1):c.2351C>A (p.Ser784Tyr)	CLSTN1 (S765Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603271	NM_001009566.3(CLSTN1):c.2350T>A (p.Ser784Thr)	CLSTN1 (S774T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146037	NM_001009566.3(CLSTN1):c.2303A>G (p.Tyr768Cys)	CLSTN1 (Y749C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287535	NM_001009566.3(CLSTN1):c.2293A>G (p.Met765Val)	CLSTN1 (M746V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146036	NM_001009566.3(CLSTN1):c.2233C>G (p.Gln745Glu)	CLSTN1 (Q726E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212393	NM_001009566.3(CLSTN1):c.2140G>A (p.Val714Met)	CLSTN1 (V695M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361301	NM_001009566.3(CLSTN1):c.2131G>A (p.Glu711Lys)	CLSTN1 (E692K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375110	NM_001009566.3(CLSTN1):c.2066C>T (p.Thr689Met)	CLSTN1 (T670M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513691	NM_001009566.3(CLSTN1):c.1973G>A (p.Ser658Asn)	CLSTN1 (S639N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618676	NM_001009566.3(CLSTN1):c.1919C>G (p.Pro640Arg)	CLSTN1 (P630R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524752	NM_001009566.3(CLSTN1):c.1910C>T (p.Ser637Leu)	CLSTN1 (S618L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529856	NM_001009566.3(CLSTN1):c.1795G>C (p.Asp599His)	CLSTN1 (D580H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543825	NM_001009566.3(CLSTN1):c.1775G>T (p.Gly592Val)	CLSTN1 (G573V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146034	NM_001009566.3(CLSTN1):c.1666G>A (p.Asp556Asn)	CLSTN1 (D537N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383700	NM_001009566.3(CLSTN1):c.1648G>T (p.Ala550Ser)	CLSTN1 (A550S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601366	NM_001009566.3(CLSTN1):c.1633C>T (p.Arg545Cys)	CLSTN1 (R526C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472018	NM_001009566.3(CLSTN1):c.1627A>G (p.Thr543Ala)	CLSTN1 (T524A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513056	NM_001009566.3(CLSTN1):c.1613A>G (p.Asn538Ser)	CLSTN1 (N519S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267887	NM_001009566.3(CLSTN1):c.1591A>G (p.Met531Val)	CLSTN1 (M521V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458622	NM_001009566.3(CLSTN1):c.1484T>C (p.Ile495Thr)	CLSTN1 (I485T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146032	NM_001009566.3(CLSTN1):c.1448C>T (p.Ser483Phe)	CLSTN1 (S483F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 748595	NM_001009566.3(CLSTN1):c.1438G>A (p.Glu480Lys)	CLSTN1 (E470K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3146031	NM_001009566.3(CLSTN1):c.1304C>T (p.Pro435Leu)	CLSTN1 (P425L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387012	NM_001009566.3(CLSTN1):c.1294C>T (p.Arg432Cys)	CLSTN1 (R432C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549798	NM_001009566.3(CLSTN1):c.1276C>T (p.Arg426Trp)	CLSTN1 (R416W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559653	NM_001009566.3(CLSTN1):c.1239G>C (p.Met413Ile)	CLSTN1 (M403I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374074	NM_001009566.3(CLSTN1):c.1210A>G (p.Ile404Val)	CLSTN1 (I394V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267888	NM_001009566.3(CLSTN1):c.1203G>C (p.Lys401Asn)	CLSTN1 (K401N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267886	NM_001009566.3(CLSTN1):c.1192G>A (p.Gly398Ser)	CLSTN1 (G388S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267882	NM_001009566.3(CLSTN1):c.1154C>T (p.Pro385Leu)	CLSTN1 (P385L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638192	NM_001009566.3(CLSTN1):c.1137G>A (p.Ser379=)	CLSTN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2622151	NM_001009566.3(CLSTN1):c.1038C>G (p.Asn346Lys)	CLSTN1 (N346K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277352	NM_001009566.3(CLSTN1):c.1022C>T (p.Pro341Leu)	CLSTN1 (P331L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267883	NM_001009566.3(CLSTN1):c.1000A>G (p.Thr334Ala)	CLSTN1 (T324A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250215	NM_001009566.3(CLSTN1):c.943G>A (p.Asp315Asn)	CLSTN1 (D305N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146045	NM_001009566.3(CLSTN1):c.908T>C (p.Val303Ala)	CLSTN1 (V293A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146044	NM_001009566.3(CLSTN1):c.900G>C (p.Gln300His)	CLSTN1 (Q300H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 721202	NM_001009566.3(CLSTN1):c.885A>G (p.Pro295=)	CLSTN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2208151	NM_001009566.3(CLSTN1):c.880G>A (p.Glu294Lys)	CLSTN1 (E284K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782355	NM_001009566.3(CLSTN1):c.828G>A (p.Pro276=)	CLSTN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2456522	NM_001009566.3(CLSTN1):c.719A>G (p.Tyr240Cys)	CLSTN1 (Y230C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2638193	NM_001009566.3(CLSTN1):c.681C>T (p.Tyr227=)	CLSTN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2245855	NM_001009566.3(CLSTN1):c.665C>A (p.Thr222Lys)	CLSTN1 (T222K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217998	NM_001009566.3(CLSTN1):c.653A>T (p.Tyr218Phe)	CLSTN1 (Y218F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146042	NM_001009566.3(CLSTN1):c.601A>G (p.Ser201Gly)	CLSTN1 (S201G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267889	NM_001009566.3(CLSTN1):c.594G>C (p.Gln198His)	CLSTN1 (Q198H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459710	NM_001009566.3(CLSTN1):c.536A>G (p.Tyr179Cys)	CLSTN1 (Y169C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146041	NM_001009566.3(CLSTN1):c.458A>G (p.Gln153Arg)	CLSTN1 (Q153R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388862	NM_001009566.3(CLSTN1):c.338A>G (p.Lys113Arg)	CLSTN1 (K103R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 724511	NM_001009566.3(CLSTN1):c.325G>A (p.Val109Ile)	CLSTN1 (V99I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2381147	NM_001009566.3(CLSTN1):c.322G>A (p.Gly108Arg)	CLSTN1 (G98R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267881	NM_001009566.3(CLSTN1):c.296T>A (p.Val99Glu)	CLSTN1 (V99E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509117	NM_001009566.3(CLSTN1):c.218G>A (p.Ser73Asn)	CLSTN1 (S73N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 791146	NM_001009566.3(CLSTN1):c.209T>A (p.Phe70Tyr)	CLSTN1 (F70Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3146035	NM_001009566.3(CLSTN1):c.173C>A (p.Pro58Gln)	CLSTN1 (P58Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252090	NM_001009566.3(CLSTN1):c.157G>T (p.Val53Leu)	CLSTN1 (V53L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146033	NM_001009566.3(CLSTN1):c.148G>A (p.Asp50Asn)	CLSTN1 (D50N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267884	NM_001009566.3(CLSTN1):c.19C>T (p.Pro7Ser)	CLSTN1, LOC129929349 (P7S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247965	NC_000001.10:g.(?_5923325)_(12071622_?)del	DNAJC11, DRAXIN +76 more	Deletion	not provided	GUncertain significance
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3063399	GRCh37/hg19 1p36.31-36.21(chr1:6330828-12910774)x1	AADACL3, AADACL4 +80 more	Copy number loss	not specified	GPathogenic
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2426061	NC_000001.10:g.(?_9304994)_(12569078_?)dup	AGTRAP, ANGPTL7 +44 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2425278	NC_000001.10:g.(?_9770514)_(11264780_?)del	ANGPTL7, C1orf127 +20 more	Deletion	Immunodeficiency 14	GUncertain significance
Select item 1808934	GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1	AADACL3, AADACL4 +143 more	Copy number loss	not provided	GPathogenic
Select item 1808634	GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1	ACAP3, ACOT7 +159 more	Copy number loss	not provided	GPathogenic
Select item 1807831	GRCh37/hg19 1p36.23-36.22(chr1:8473813-9852687)x1	CA6, CLSTN1 +12 more	Copy number loss	not provided	GLikely pathogenic
Select item 1703629	GRCh37/hg19 1p36.33-36.22(chr1:849466-10258804)	GPR157, H6PD +124 more	Copy number loss	Chromosome 1p36 deletion syndrome, proximal	GPathogenic
Select item 1527281	GRCh37/hg19 1p36.22(chr1:9616141-9971665)	CLSTN1, CTNNBIP1 +3 more	Copy number loss	not specified	GUncertain significance
Select item 1340028	GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	AJAP1, KAZN +228 more	Copy number loss	not provided	GPathogenic
Select item 831335	NC_000001.10:g.(?_9770494)_(10690064_?)del	CENPS, CENPS-CORT +12 more	Deletion	Immunodeficiency 14	GUncertain significance
Select item 814053	GRCh37/hg19 1p36.22(chr1:9852396-11909475)x1	TARDBP, RBP7 +31 more	Copy number loss	not provided	GLikely pathogenic

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