ClinVar for Gene (Select 63967) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3267880	NM_022111.4(CLSPN):c.2005G>A (p.Glu669Lys)	CLSPN (E669K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267879	NM_022111.4(CLSPN):c.3247G>A (p.Val1083Ile)	CLSPN, LOC126805694 (V1083I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267878	NM_022111.4(CLSPN):c.2678G>A (p.Arg893Gln)	CLSPN (R893Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267877	NM_022111.4(CLSPN):c.89G>C (p.Ser30Thr)	CLSPN (S30T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267876	NM_022111.4(CLSPN):c.1172C>T (p.Thr391Ile)	CLSPN (T391I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267875	NM_022111.4(CLSPN):c.3717T>G (p.Phe1239Leu)	CLSPN (F1239L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267873	NM_022111.4(CLSPN):c.803C>T (p.Ser268Leu)	CLSPN (S268L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267872	NM_022111.4(CLSPN):c.3208G>A (p.Glu1070Lys)	CLSPN, LOC126805694 (E1006K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267871	NM_022111.4(CLSPN):c.3687G>C (p.Gln1229His)	CLSPN (Q1165H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267870	NM_022111.4(CLSPN):c.2059A>G (p.Ile687Val)	CLSPN (I687V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267869	NM_022111.4(CLSPN):c.1663G>A (p.Val555Ile)	CLSPN (V555I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3267868	NM_022111.4(CLSPN):c.610G>A (p.Asp204Asn)	CLSPN (D204N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146030	NM_022111.4(CLSPN):c.830A>G (p.Lys277Arg)	CLSPN (K277R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146029	NM_022111.4(CLSPN):c.639C>G (p.Asp213Glu)	CLSPN (D213E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146028	NM_022111.4(CLSPN):c.463A>G (p.Ile155Val)	CLSPN (I155V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146027	NM_022111.4(CLSPN):c.3992G>A (p.Arg1331Gln)	CLSPN (R1267Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3146025	NM_022111.4(CLSPN):c.3070C>G (p.Leu1024Val)	CLSPN (L1024V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146024	NM_022111.4(CLSPN):c.298A>G (p.Ile100Val)	CLSPN (I100V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3146023	NM_022111.4(CLSPN):c.268G>C (p.Glu90Gln)	CLSPN (E90Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146022	NM_022111.4(CLSPN):c.2588T>C (p.Leu863Ser)	CLSPN (L799S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146021	NM_022111.4(CLSPN):c.2567C>G (p.Ala856Gly)	CLSPN (A792G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146020	NM_022111.4(CLSPN):c.253G>A (p.Glu85Lys)	CLSPN (E85K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146018	NM_022111.4(CLSPN):c.2495C>T (p.Pro832Leu)	CLSPN (P832L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146017	NM_022111.4(CLSPN):c.2421A>T (p.Arg807Ser)	CLSPN (R807S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146016	NM_022111.4(CLSPN):c.2411G>A (p.Gly804Glu)	CLSPN (G740E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146015	NM_022111.4(CLSPN):c.2165A>G (p.Asp722Gly)	CLSPN (D722G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146014	NM_022111.4(CLSPN):c.1943A>G (p.Glu648Gly)	CLSPN (E584G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146013	NM_022111.4(CLSPN):c.1396G>A (p.Glu466Lys)	CLSPN (E466K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146011	NM_022111.4(CLSPN):c.1160C>T (p.Thr387Ile)	CLSPN (T387I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146010	NM_022111.4(CLSPN):c.1136C>T (p.Ala379Val)	CLSPN (A379V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146009	NM_022111.4(CLSPN):c.1133A>G (p.Asn378Ser)	CLSPN (N378S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146008	NM_022111.4(CLSPN):c.1027C>T (p.His343Tyr)	CLSPN (H343Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2638658	NM_022111.4(CLSPN):c.165G>A (p.Lys55=)	CLSPN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638657	NM_022111.4(CLSPN):c.906G>A (p.Leu302=)	CLSPN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638656	NM_022111.4(CLSPN):c.2674C>A (p.Pro892Thr)	CLSPN (P828T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2621845	NM_022111.4(CLSPN):c.1348G>A (p.Ala450Thr)	CLSPN (A450T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621649	NM_022111.4(CLSPN):c.1678A>G (p.Met560Val)	CLSPN (M560V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2608654	NM_022111.4(CLSPN):c.3915G>C (p.Lys1305Asn)	CLSPN (K1305N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607350	NM_022111.4(CLSPN):c.2387G>A (p.Gly796Glu)	CLSPN (G732E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596197	NM_022111.4(CLSPN):c.1090G>A (p.Gly364Ser)	CLSPN (G364S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592477	NM_022111.4(CLSPN):c.3227T>C (p.Ile1076Thr)	CLSPN, LOC126805694 (I1076T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540504	NM_022111.4(CLSPN):c.2747C>T (p.Thr916Ile)	CLSPN (T852I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537435	NM_022111.4(CLSPN):c.3728G>C (p.Arg1243Thr)	CLSPN (R1179T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531691	NM_022111.4(CLSPN):c.1676A>T (p.Asp559Val)	CLSPN (D559V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531517	NM_022111.4(CLSPN):c.1654A>C (p.Asn552His)	CLSPN (N552H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526458	NM_022111.4(CLSPN):c.3032A>G (p.Asp1011Gly)	CLSPN (D1011G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512742	NM_022111.4(CLSPN):c.28C>A (p.His10Asn)	CLSPN (H10N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512102	NM_022111.4(CLSPN):c.158G>A (p.Ser53Asn)	CLSPN (S53N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489786	NM_022111.4(CLSPN):c.1081C>T (p.His361Tyr)	CLSPN (H361Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474654	NM_022111.4(CLSPN):c.3619A>G (p.Met1207Val)	CLSPN (M1143V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465663	NM_022111.4(CLSPN):c.79C>T (p.Pro27Ser)	CLSPN (P27S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408887	NM_022111.4(CLSPN):c.1164G>C (p.Gln388His)	CLSPN (Q388H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393627	NM_022111.4(CLSPN):c.1526G>A (p.Arg509Gln)	CLSPN (R509Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388023	NM_022111.4(CLSPN):c.314A>G (p.Lys105Arg)	CLSPN (K105R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387011	NM_022111.4(CLSPN):c.2960C>T (p.Thr987Ile)	CLSPN (T987I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382930	NM_022111.4(CLSPN):c.181G>T (p.Val61Phe)	CLSPN (V61F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360265	NM_022111.4(CLSPN):c.3202G>A (p.Glu1068Lys)	CLSPN, LOC126805694 (E1004K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346493	NM_022111.4(CLSPN):c.1205T>A (p.Val402Glu)	CLSPN (V402E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329660	NM_022111.4(CLSPN):c.3556A>G (p.Met1186Val)	CLSPN, LOC126805694 (M1122V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324208	NM_022111.4(CLSPN):c.2383C>T (p.Arg795Cys)	CLSPN (R731C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311184	NM_022111.4(CLSPN):c.2980G>A (p.Glu994Lys)	CLSPN (E930K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286574	NM_022111.4(CLSPN):c.2357A>C (p.Tyr786Ser)	CLSPN (Y722S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284742	NM_022111.4(CLSPN):c.3683T>C (p.Ile1228Thr)	CLSPN (I1228T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278144	NM_022111.4(CLSPN):c.3095A>T (p.Asp1032Val)	CLSPN (D1032V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276778	NM_022111.4(CLSPN):c.2778T>A (p.His926Gln)	CLSPN (H926Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275970	NM_022111.4(CLSPN):c.1543G>A (p.Asp515Asn)	CLSPN (D515N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269460	NM_022111.4(CLSPN):c.2146C>A (p.Pro716Thr)	CLSPN (P716T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256555	NM_022111.4(CLSPN):c.2585G>A (p.Cys862Tyr)	CLSPN (C862Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233694	NM_022111.4(CLSPN):c.428A>G (p.Asp143Gly)	CLSPN (D143G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232053	NM_022111.4(CLSPN):c.2533G>A (p.Ala845Thr)	CLSPN (A781T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216640	NM_022111.4(CLSPN):c.916T>C (p.Tyr306His)	CLSPN (Y306H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808707	GRCh37/hg19 1p34.3(chr1:35104233-37357913)x1	ADPRS, AGO1 +32 more	Copy number loss	not provided	GPathogenic
Select item 1801733	NM_022111.4(CLSPN):c.3585A>T (p.Glu1195Asp)	CLSPN (E1131D +1 more)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1526904	GRCh37/hg19 1p34.3(chr1:36041366-39112237)	ADPRS, AGO1 +37 more	Copy number loss	not specified	GUncertain significance
Select item 1526893	GRCh37/hg19 1p34.3(chr1:35950860-36635695)	ADPRS, AGO1 +12 more	Copy number gain	not specified	GUncertain significance
Select item 1526873	GRCh37/hg19 1p34.3(chr1:35950860-36465764)	AGO1, AGO3 +7 more	Copy number loss	not specified	GUncertain significance
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 730279	NM_022111.4(CLSPN):c.1014A>G (p.Lys338=)	CLSPN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 625764	GRCh37/hg19 1p35.1-34.3(chr1:32859415-36454915)	YARS1, ZBTB8A +41 more	Copy number loss	not provided	GPathogenic
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	KCNQ4, KDM4A +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395434	GRCh37/hg19 1p34.3(chr1:34830287-36945093)x1	ADPRS, AGO1 +31 more	Copy number loss	See cases	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 148904	GRCh38/hg38 1p34.3(chr1:34753938-36055310)x1	AGO1, AGO3 +70 more	Copy number loss	See cases	GLikely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 87