LIMK2[gene] - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57132	GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	ADORA2A, ADORA2A-AS1 +798 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	See cases	GPathogenic
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067187, LOC130067188 +556 more	Copy number gain	See cases	GPathogenic
Select item 155348	GRCh38/hg38 22q12.1-12.2(chr22:26451042-31451926)x1	AP1B1, ASCC2 +260 more	Copy number loss	See cases	GPathogenic
Select item 57002	GRCh38/hg38 22q12.1-12.3(chr22:26979579-33992220)x3	AP1B1, ASCC2 +307 more	Copy number gain	See cases	GPathogenic
Select item 2310320	NM_005569.4(LIMK2):c.24T>A (p.Asp8Glu)	LIMK2 (D8E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336344	NM_005569.4(LIMK2):c.26T>A (p.Val9Asp)	LIMK2 (V9D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377403	NM_005569.4(LIMK2):c.31A>G (p.Arg11Gly)	LIMK2 (R11G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299218	NM_005569.4(LIMK2):c.47G>A (p.Gly16Glu)	LIMK2 (G16E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319770	NM_005569.4(LIMK2):c.106T>C (p.Ser36Pro)	LIMK2 (S36P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402730	NM_005569.4(LIMK2):c.112T>G (p.Phe38Val)	LIMK2 (F38V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118899	NM_005569.4(LIMK2):c.117-9538T>G	LIMK2 (S13A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2653068	NM_005569.4(LIMK2):c.342G>A (p.Val114=)	LIMK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3290756	NM_005569.4(LIMK2):c.488G>A (p.Arg163Gln)	LIMK2 (R142Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118900	NM_005569.4(LIMK2):c.515C>G (p.Ala172Gly)	LIMK2 (A172G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490079	NM_005569.4(LIMK2):c.538G>A (p.Val180Met)	LIMK2 (V159M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395962	NM_005569.4(LIMK2):c.607C>T (p.Arg203Cys)	LIMK2 (R182C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392881	NM_005569.4(LIMK2):c.634G>A (p.Val212Ile)	LIMK2 (V212I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541977	NM_005569.4(LIMK2):c.742C>T (p.Arg248Trp)	LIMK2 (R227W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270549	NM_005569.4(LIMK2):c.754C>T (p.Arg252Trp)	LIMK2 (R252W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118901	NM_005569.4(LIMK2):c.755G>A (p.Arg252Gln)	LIMK2 (R252Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3290760	NM_005569.4(LIMK2):c.781G>A (p.Gly261Arg)	LIMK2 (G240R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118902	NM_005569.4(LIMK2):c.793G>A (p.Ala265Thr)	LIMK2 (A265T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3290757	NM_005569.4(LIMK2):c.839G>A (p.Arg280Lys)	LIMK2 (R259K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615261	NM_005569.4(LIMK2):c.844C>T (p.Arg282Cys)	LIMK2 (R282C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118903	NM_005569.4(LIMK2):c.904C>T (p.Pro302Ser)	LIMK2 (P302S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401287	NM_005569.4(LIMK2):c.920G>A (p.Arg307His)	LIMK2 (R286H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290755	NM_005569.4(LIMK2):c.928A>G (p.Ser310Gly)	LIMK2 (S310G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491954	NM_005569.4(LIMK2):c.931C>T (p.Arg311Cys)	LIMK2 (R290C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118904	NM_005569.4(LIMK2):c.947G>A (p.Arg316His)	LIMK2 (R316H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314732	NM_005569.4(LIMK2):c.974T>A (p.Ile325Asn)	LIMK2 (I304N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393307	NM_005569.4(LIMK2):c.1004A>T (p.Glu335Val)	LIMK2 (E314V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290758	NM_005569.4(LIMK2):c.1091G>T (p.Arg364Leu)	LIMK2 (R343L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118895	NM_005569.4(LIMK2):c.1099G>A (p.Glu367Lys)	LIMK2 (E346K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624066	NM_005569.4(LIMK2):c.1174A>C (p.Ile392Leu)	LIMK2 (I371L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769162	NM_005569.4(LIMK2):c.1242G>A (p.Lys414=)	LIMK2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2376719	NM_005569.4(LIMK2):c.1252C>T (p.Arg418Cys)	LIMK2 (R418C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343842	NM_005569.4(LIMK2):c.1253G>A (p.Arg418His)	LIMK2 (R397H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520450	NM_005569.4(LIMK2):c.1306G>A (p.Ala436Thr)	LIMK2 (A415T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290437	NM_005569.4(LIMK2):c.1426A>C (p.Ile476Leu)	LIMK2 (I455L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253541	NM_005569.4(LIMK2):c.1619T>C (p.Ile540Thr)	LIMK2 (I519T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329310	NM_005569.4(LIMK2):c.1627G>A (p.Val543Met)	LIMK2 (V543M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387360	NM_005569.4(LIMK2):c.1660C>G (p.Leu554Val)	LIMK2 (L533V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118897	NM_005569.4(LIMK2):c.1772+1483C>A	LIMK2 (A571D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341266	NM_005569.4(LIMK2):c.1772+1489C>G	LIMK2 (P573R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384032	NM_005569.4(LIMK2):c.1773-1479C>T	LIMK2 (P580L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118898	NM_005569.4(LIMK2):c.1773-1350A>G	LIMK2 (D623G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589283	NM_005569.4(LIMK2):c.1773-1318A>G	LIMK2 (I634V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372003	NM_005569.4(LIMK2):c.1773-1312G>A	LIMK2 (V636M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334057	NM_005569.4(LIMK2):c.1773-1293T>G	LIMK2 (M642R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333114	NM_005569.4(LIMK2):c.1773-1236A>T	LIMK2 (K661I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488405	NM_005569.4(LIMK2):c.1773-1204G>C	LIMK2 (D672H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475662	NM_005569.4(LIMK2):c.1773-1204G>A	LIMK2 (D672N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319769	NM_005569.4(LIMK2):c.1773-1164A>G	LIMK2 (K685R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309905	NM_005569.4(LIMK2):c.1825G>C (p.Gly609Arg)	LIMK2 (G609R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479976	NM_005569.4(LIMK2):c.1874C>T (p.Thr625Ile)	LIMK2 (T625I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290754	NM_005569.4(LIMK2):c.1901G>A (p.Arg634Gln)	LIMK2 (R613Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1466555	NC_000022.10:g.(?_29083885)_(34046674_?)dup	AP1B1, ASCC2 +71 more	Duplication	not provided	GUncertain significance
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 979603	GRCh37/hg19 22q12.2(chr22:31565901-32105115)x1	LIMK2, PISD +7 more	Copy number loss	not provided	GUncertain significance
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 634999	inv(22)(q12.2q12.2)	NEFH, PIK3IP1 +42 more	Inversion	Anaplastic ependymoma	GLikely pathogenic
Select item 565055	GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3	ADORA2A, AP1B1 +129 more	Copy number gain	not provided	GPathogenic
Select item 442415	GRCh37/hg19 22q12.1-12.3(chr22:28349854-33013062)x3	DEPDC5, DRG1 +70 more	Copy number gain	See cases	GLikely pathogenic
Select item 441826	GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3	ADORA2A, AP1B1 +131 more	Copy number gain	See cases	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic

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Items: 73