CLMN[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	ABCD4, ACYP1 +1421 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1202 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056672, LOC130056673 +1071 more	Copy number gain	See cases	GPathogenic
Select item 57811	GRCh38/hg38 14q32.11-32.13(chr14:90255156-95274696)x1	ASB2, ATXN3 +201 more	Copy number loss	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	ADSS1, AHNAK2 +880 more	Copy number gain	See cases	GPathogenic
Select item 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	ADSS1, AK7 +662 more	Copy number gain	See cases	GPathogenic
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 2554536	NM_024734.4(CLMN):c.2941A>T (p.Ile981Phe)	CLMN (I981F)	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 786255	NM_024734.4(CLMN):c.2888C>T (p.Pro963Leu)	CLMN (P963L)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2368981	NM_024734.4(CLMN):c.2849A>G (p.Asn950Ser)	CLMN (N950S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783696	NM_024734.4(CLMN):c.2840+4G>A	CLMN	Single nucleotide variant (intron variant)	CLMN-related disorder +1 more	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 3044504	NM_024734.4(CLMN):c.2783A>G (p.Tyr928Cys)	CLMN (Y928C)	Single nucleotide variant (missense variant)	CLMN-related disorder	GLikely benign
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 776857	NM_024734.4(CLMN):c.2698A>T (p.Ile900Phe)	CLMN (I900F)	Single nucleotide variant (missense variant)	CLMN-related disorder +1 more	GBenign
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 2525640	NM_024734.4(CLMN):c.2654T>C (p.Val885Ala)	CLMN (V885A)	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 3034972	NM_024734.4(CLMN):c.2550C>T (p.Pro850=)	CLMN	Single nucleotide variant (synonymous variant)	CLMN-related disorder	GLikely benign
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 779738	NM_024734.4(CLMN):c.2511+10C>T	CLMN	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 2620065	NM_024734.4(CLMN):c.2423C>T (p.Thr808Ile)	CLMN (T808I)	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 770999	NM_024734.4(CLMN):c.2352G>A (p.Ser784=)	CLMN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 717456	NM_024734.4(CLMN):c.2312A>C (p.Glu771Ala)	CLMN (E771A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 2604835	NM_024734.4(CLMN):c.2236G>A (p.Asp746Asn)	CLMN (D746N)	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 734935	NM_024734.4(CLMN):c.2199G>A (p.Glu733=)	CLMN	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 3041361	NM_024734.4(CLMN):c.2112C>T (p.Ser704=)	CLMN	Single nucleotide variant (synonymous variant)	CLMN-related disorder	GLikely benign
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 2614026	NM_024734.4(CLMN):c.2074A>G (p.Ser692Gly)	CLMN (S692G)	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 2476449	NM_024734.4(CLMN):c.2021G>A (p.Gly674Glu)	CLMN (G674E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3145904	NM_024734.4(CLMN):c.2000G>A (p.Arg667His)	CLMN (R667H)	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 2387922	NM_024734.4(CLMN):c.1776C>G (p.Asp592Glu)	CLMN (D592E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787953	NM_024734.4(CLMN):c.1776C>T (p.Asp592=)	CLMN	Single nucleotide variant (synonymous variant)	CLMN-related disorder +1 more	GBenign
Select item 2215472	NM_024734.4(CLMN):c.1724C>G (p.Ser575Cys)	CLMN (S575C)	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 3145901	NM_024734.4(CLMN):c.1660G>A (p.Asp554Asn)	CLMN (D554N)	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 2313533	NM_024734.4(CLMN):c.1601T>C (p.Met534Thr)	CLMN (M534T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786256	NM_024734.4(CLMN):c.1554C>T (p.His518=)	CLMN	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2470319	NM_024734.4(CLMN):c.1538A>G (p.Glu513Gly)	CLMN (E513G)	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 2404485	NM_024734.4(CLMN):c.1502A>G (p.Asn501Ser)	CLMN (N501S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 783697	NM_024734.4(CLMN):c.1465G>T (p.Val489Phe)	CLMN (V489F)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2310473	NM_024734.4(CLMN):c.1358C>G (p.Ala453Gly)	CLMN (A453G)	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 2482857	NM_024734.4(CLMN):c.1337T>G (p.Phe446Cys)	CLMN (F446C)	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 2256554	NM_024734.4(CLMN):c.1281C>A (p.His427Gln)	CLMN (H427Q)	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 2311891	NM_024734.4(CLMN):c.1254C>G (p.Asn418Lys)	CLMN (N418K)	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 2230390	NM_024734.4(CLMN):c.1112C>T (p.Ala371Val)	CLMN (A371V)	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 714521	NM_024734.4(CLMN):c.1069G>A (p.Glu357Lys)	CLMN (E357K)	Single nucleotide variant (missense variant)	not provided	GBenign
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 3145897	NM_024734.4(CLMN):c.1017C>G (p.Asn339Lys)	CLMN (N339K)	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 3038378	NM_024734.4(CLMN):c.939C>G (p.Arg313=)	CLMN	Single nucleotide variant (synonymous variant)	CLMN-related disorder	GLikely benign
Select item 788893	NM_024734.4(CLMN):c.886-13_886-12dup	CLMN	Duplication (intron variant)	CLMN-related disorder +1 more	GBenign
Select item 785468	NM_024734.4(CLMN):c.886-4G>T	CLMN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 784612	NM_024734.4(CLMN):c.826G>A (p.Glu276Lys)	CLMN (E276K)	Single nucleotide variant (missense variant)	CLMN-related disorder +1 more	GLikely benign
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 2482693	NM_024734.4(CLMN):c.776A>G (p.His259Arg)	CLMN (H259R)	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 2644494	NM_024734.4(CLMN):c.669G>A (p.Ala223=)	CLMN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3145916	NM_024734.4(CLMN):c.659C>T (p.Ala220Val)	CLMN (A220V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2543080	NM_024734.4(CLMN):c.616G>A (p.Val206Met)	CLMN (V206M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2644495	NM_024734.4(CLMN):c.615C>T (p.Gly205=)	CLMN	Single nucleotide variant (synonymous variant)	not provided	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 3145915	NM_024734.4(CLMN):c.584C>T (p.Ala195Val)	CLMN (A195V)	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 2608875	NM_024734.4(CLMN):c.496G>A (p.Asp166Asn)	CLMN (D166N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 740265	NM_024734.4(CLMN):c.370C>G (p.Pro124Ala)	CLMN (P124A)	Single nucleotide variant (missense variant)	CLMN-related disorder +1 more	GLikely benign
Select item 779739	NM_024734.4(CLMN):c.333G>T (p.Leu111=)	CLMN	Single nucleotide variant (synonymous variant)	CLMN-related disorder +1 more	GBenign
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 2234270	NM_024734.4(CLMN):c.292G>A (p.Ala98Thr)	CLMN (A98T)	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 2211308	NM_024734.4(CLMN):c.268C>T (p.Arg90Cys)	CLMN (R90C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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