ClinVar for Gene (Select 79789) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3357556	NM_024734.4(CLMN):c.735A>G (p.Glu245=)	CLMN	Single nucleotide variant (synonymous variant)	CLMN-related disorder	GLikely benign
Select item 3351689	NM_024734.4(CLMN):c.462C>T (p.Ser154=)	CLMN	Single nucleotide variant (synonymous variant)	CLMN-related disorder	GLikely benign
Select item 3267810	NM_024734.4(CLMN):c.1697T>C (p.Phe566Ser)	CLMN (F566S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267809	NM_024734.4(CLMN):c.1195A>C (p.Ser399Arg)	CLMN (S399R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267808	NM_024734.4(CLMN):c.1379A>G (p.Asp460Gly)	CLMN (D460G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267806	NM_024734.4(CLMN):c.1823G>C (p.Arg608Thr)	CLMN (R608T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267805	NM_024734.4(CLMN):c.1432T>C (p.Ser478Pro)	CLMN (S478P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267804	NM_024734.4(CLMN):c.2943T>G (p.Ile981Met)	CLMN (I981M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267803	NM_024734.4(CLMN):c.22T>C (p.Trp8Arg)	CLMN, LOC130056366 (W8R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267802	NM_024734.4(CLMN):c.1999C>T (p.Arg667Cys)	CLMN (R667C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267801	NM_024734.4(CLMN):c.509C>T (p.Pro170Leu)	CLMN (P170L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267800	NM_024734.4(CLMN):c.1549C>T (p.Arg517Cys)	CLMN (R517C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145917	NM_024734.4(CLMN):c.743A>G (p.Glu248Gly)	CLMN (E248G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145916	NM_024734.4(CLMN):c.659C>T (p.Ala220Val)	CLMN (A220V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145915	NM_024734.4(CLMN):c.584C>T (p.Ala195Val)	CLMN (A195V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145914	NM_024734.4(CLMN):c.2689G>A (p.Asp897Asn)	CLMN (D897N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145913	NM_024734.4(CLMN):c.2552T>C (p.Leu851Pro)	CLMN (L851P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145912	NM_024734.4(CLMN):c.2540T>G (p.Ile847Arg)	CLMN (I847R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145911	NM_024734.4(CLMN):c.2258A>G (p.Glu753Gly)	CLMN (E753G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145909	NM_024734.4(CLMN):c.2161G>A (p.Val721Ile)	CLMN (V721I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145908	NM_024734.4(CLMN):c.2137T>C (p.Ser713Pro)	CLMN (S713P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145907	NM_024734.4(CLMN):c.2120G>T (p.Gly707Val)	CLMN (G707V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145906	NM_024734.4(CLMN):c.2102G>C (p.Gly701Ala)	CLMN (G701A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145905	NM_024734.4(CLMN):c.2059T>C (p.Ser687Pro)	CLMN (S687P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3145904	NM_024734.4(CLMN):c.2000G>A (p.Arg667His)	CLMN (R667H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145903	NM_024734.4(CLMN):c.183T>G (p.Asp61Glu)	CLMN (D61E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145902	NM_024734.4(CLMN):c.1789G>T (p.Ala597Ser)	CLMN (A597S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145901	NM_024734.4(CLMN):c.1660G>A (p.Asp554Asn)	CLMN (D554N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145900	NM_024734.4(CLMN):c.155C>G (p.Pro52Arg)	CLMN (P52R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145899	NM_024734.4(CLMN):c.152C>G (p.Pro51Arg)	CLMN (P51R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145897	NM_024734.4(CLMN):c.1017C>G (p.Asn339Lys)	CLMN (N339K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060268	NM_024734.4(CLMN):c.15G>A (p.Glu5=)	CLMN, LOC130056366	Single nucleotide variant (synonymous variant)	CLMN-related disorder	GBenign
Select item 3055637	NM_024734.4(CLMN):c.2784T>C (p.Tyr928=)	CLMN	Single nucleotide variant (synonymous variant)	CLMN-related disorder	GBenign
Select item 3052247	NM_024734.4(CLMN):c.783C>G (p.Pro261=)	CLMN	Single nucleotide variant (synonymous variant)	CLMN-related disorder	GLikely benign
Select item 3044504	NM_024734.4(CLMN):c.2783A>G (p.Tyr928Cys)	CLMN (Y928C)	Single nucleotide variant (missense variant)	CLMN-related disorder	GLikely benign
Select item 3042564	NM_024734.4(CLMN):c.608+7C>T	CLMN	Single nucleotide variant (intron variant)	CLMN-related disorder	GLikely benign
Select item 3041361	NM_024734.4(CLMN):c.2112C>T (p.Ser704=)	CLMN	Single nucleotide variant (synonymous variant)	CLMN-related disorder	GLikely benign
Select item 3038472	NM_024734.4(CLMN):c.1437G>A (p.Ser479=)	CLMN	Single nucleotide variant (synonymous variant)	CLMN-related disorder	GLikely benign
Select item 3038378	NM_024734.4(CLMN):c.939C>G (p.Arg313=)	CLMN	Single nucleotide variant (synonymous variant)	CLMN-related disorder	GLikely benign
Select item 3037511	NM_024734.4(CLMN):c.621G>A (p.Ala207=)	CLMN	Single nucleotide variant (synonymous variant)	CLMN-related disorder	GLikely benign
Select item 3035219	NM_024734.4(CLMN):c.1550G>A (p.Arg517His)	CLMN (R517H)	Single nucleotide variant (missense variant)	CLMN-related disorder	GBenign
Select item 3034972	NM_024734.4(CLMN):c.2550C>T (p.Pro850=)	CLMN	Single nucleotide variant (synonymous variant)	CLMN-related disorder	GLikely benign
Select item 2684743	GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	IFI27L1, IGHA2 +182 more	Copy number gain	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 2644496	NM_024734.4(CLMN):c.117A>G (p.Thr39=)	CLMN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644495	NM_024734.4(CLMN):c.615C>T (p.Gly205=)	CLMN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644494	NM_024734.4(CLMN):c.669G>A (p.Ala223=)	CLMN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2620065	NM_024734.4(CLMN):c.2423C>T (p.Thr808Ile)	CLMN (T808I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614026	NM_024734.4(CLMN):c.2074A>G (p.Ser692Gly)	CLMN (S692G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608875	NM_024734.4(CLMN):c.496G>A (p.Asp166Asn)	CLMN (D166N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604835	NM_024734.4(CLMN):c.2236G>A (p.Asp746Asn)	CLMN (D746N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595711	NM_024734.4(CLMN):c.1262C>T (p.Pro421Leu)	CLMN (P421L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554536	NM_024734.4(CLMN):c.2941A>T (p.Ile981Phe)	CLMN (I981F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547005	NM_024734.4(CLMN):c.1717T>G (p.Phe573Val)	CLMN (F573V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543080	NM_024734.4(CLMN):c.616G>A (p.Val206Met)	CLMN (V206M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538882	NM_024734.4(CLMN):c.2231T>C (p.Val744Ala)	CLMN (V744A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2525774	NM_024734.4(CLMN):c.149A>C (p.Asn50Thr)	CLMN (N50T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525640	NM_024734.4(CLMN):c.2654T>C (p.Val885Ala)	CLMN (V885A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514854	NM_024734.4(CLMN):c.2386C>A (p.Gln796Lys)	CLMN (Q796K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512123	NM_024734.4(CLMN):c.2499G>A (p.Met833Ile)	CLMN (M833I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482857	NM_024734.4(CLMN):c.1337T>G (p.Phe446Cys)	CLMN (F446C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482693	NM_024734.4(CLMN):c.776A>G (p.His259Arg)	CLMN (H259R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476449	NM_024734.4(CLMN):c.2021G>A (p.Gly674Glu)	CLMN (G674E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471649	NM_024734.4(CLMN):c.2762C>T (p.Ser921Leu)	CLMN (S921L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2470319	NM_024734.4(CLMN):c.1538A>G (p.Glu513Gly)	CLMN (E513G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427518	NC_000014.8:g.(?_95080779)_(97347545_?)dup	AK7, ATG2B +17 more	Duplication	not provided	GUncertain significance
Select item 2425566	NC_000014.8:g.(?_90429459)_(97347545_?)dup	SYNE3, TC2N +66 more	Duplication	not provided	GUncertain significance
Select item 2404485	NM_024734.4(CLMN):c.1502A>G (p.Asn501Ser)	CLMN (N501S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2399662	NM_024734.4(CLMN):c.2003C>T (p.Pro668Leu)	CLMN (P668L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394854	NM_024734.4(CLMN):c.1349C>T (p.Pro450Leu)	CLMN (P450L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392078	NM_024734.4(CLMN):c.259T>G (p.Ser87Ala)	CLMN (S87A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387922	NM_024734.4(CLMN):c.1776C>G (p.Asp592Glu)	CLMN (D592E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384069	NM_024734.4(CLMN):c.1606G>A (p.Asp536Asn)	CLMN (D536N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371342	NM_024734.4(CLMN):c.46G>A (p.Gly16Arg)	CLMN, LOC130056366 (G16R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368981	NM_024734.4(CLMN):c.2849A>G (p.Asn950Ser)	CLMN (N950S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365403	NM_024734.4(CLMN):c.1010C>A (p.Thr337Asn)	CLMN (T337N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351334	NM_024734.4(CLMN):c.979G>A (p.Val327Ile)	CLMN (V327I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350028	NM_024734.4(CLMN):c.668C>G (p.Ala223Gly)	CLMN (A223G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341455	NM_024734.4(CLMN):c.2992G>A (p.Asp998Asn)	CLMN (D998N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323243	NM_024734.4(CLMN):c.1129A>G (p.Thr377Ala)	CLMN (T377A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318464	NM_024734.4(CLMN):c.2882A>G (p.His961Arg)	CLMN (H961R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313533	NM_024734.4(CLMN):c.1601T>C (p.Met534Thr)	CLMN (M534T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311891	NM_024734.4(CLMN):c.1254C>G (p.Asn418Lys)	CLMN (N418K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310473	NM_024734.4(CLMN):c.1358C>G (p.Ala453Gly)	CLMN (A453G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273279	NM_024734.4(CLMN):c.293C>T (p.Ala98Val)	CLMN (A98V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269200	NM_024734.4(CLMN):c.1477A>T (p.Ile493Phe)	CLMN (I493F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266172	NM_024734.4(CLMN):c.250T>C (p.Tyr84His)	CLMN (Y84H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264295	NM_024734.4(CLMN):c.269G>A (p.Arg90His)	CLMN (R90H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258543	NM_024734.4(CLMN):c.1103C>G (p.Ser368Cys)	CLMN (S368C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256554	NM_024734.4(CLMN):c.1281C>A (p.His427Gln)	CLMN (H427Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245994	NM_024734.4(CLMN):c.2920C>A (p.Gln974Lys)	CLMN (Q974K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240077	NM_024734.4(CLMN):c.568A>G (p.Ile190Val)	CLMN (I190V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238791	NM_024734.4(CLMN):c.2455C>T (p.His819Tyr)	CLMN (H819Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237853	NM_024734.4(CLMN):c.2425C>T (p.Pro809Ser)	CLMN (P809S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235530	NM_024734.4(CLMN):c.1037C>G (p.Pro346Arg)	CLMN (P346R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234270	NM_024734.4(CLMN):c.292G>A (p.Ala98Thr)	CLMN (A98T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230640	NM_024734.4(CLMN):c.1538A>C (p.Glu513Ala)	CLMN (E513A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230390	NM_024734.4(CLMN):c.1112C>T (p.Ala371Val)	CLMN (A371V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225450	NM_024734.4(CLMN):c.1295C>T (p.Thr432Ile)	CLMN (T432I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215472	NM_024734.4(CLMN):c.1724C>G (p.Ser575Cys)	CLMN (S575C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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