19715[HGNC] - ClinVar

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Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 148904	GRCh38/hg38 1p34.3(chr1:34753938-36055310)x1	AGO1, AGO3 +70 more	Copy number loss	See cases	GLikely pathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2275970	NM_022111.4(CLSPN):c.1543G>A (p.Asp515Asn)	CLSPN (D515N)	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 3146013	NM_022111.4(CLSPN):c.1396G>A (p.Glu466Lys)	CLSPN (E466K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2346493	NM_022111.4(CLSPN):c.1205T>A (p.Val402Glu)	CLSPN (V402E)	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 2408887	NM_022111.4(CLSPN):c.1164G>C (p.Gln388His)	CLSPN (Q388H)	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 2596197	NM_022111.4(CLSPN):c.1090G>A (p.Gly364Ser)	CLSPN (G364S)	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 3146008	NM_022111.4(CLSPN):c.1027C>T (p.His343Tyr)	CLSPN (H343Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 730279	NM_022111.4(CLSPN):c.1014A>G (p.Lys338=)	CLSPN	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2638657	NM_022111.4(CLSPN):c.906G>A (p.Leu302=)	CLSPN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3267873	NM_022111.4(CLSPN):c.803C>T (p.Ser268Leu)	CLSPN (S268L)	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 3267868	NM_022111.4(CLSPN):c.610G>A (p.Asp204Asn)	CLSPN (D204N)	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 2233694	NM_022111.4(CLSPN):c.428A>G (p.Asp143Gly)	CLSPN (D143G)	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 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 3146020	NM_022111.4(CLSPN):c.253G>A (p.Glu85Lys)	CLSPN (E85K)	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 2638658	NM_022111.4(CLSPN):c.165G>A (p.Lys55=)	CLSPN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3267877	NM_022111.4(CLSPN):c.89G>C (p.Ser30Thr)	CLSPN (S30T)	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 2512742	NM_022111.4(CLSPN):c.28C>A (p.His10Asn)	CLSPN (H10N)	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 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 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

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Items: 87