LIM2[gene] - ClinVar

Search results

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	ZBTB45, ZFP28 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064933, LOC130064934 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	MIR10394, MIR125A +806 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	A1BG, A1BG-AS1 +782 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LILRA4, LILRA5 +761 more	Copy number gain	See cases	GPathogenic
Select item 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 more	Copy number gain	See cases	GPathogenic
Select item 155383	GRCh38/hg38 19q13.41(chr19:51202361-51993020)x3	C19orf84, CD33 +62 more	Copy number gain	See cases	GUncertain significance
Select item 369289	NM_030657.3(LIM2):c.*306A>C	LIM2	Single nucleotide variant	Cortical pulverulent cataract	GLikely benign
Select item 893201	NM_001161748.2(LIM2):c.*291T>C	LIM2	Single nucleotide variant (3 prime UTR variant)	Cataract 19 multiple types	GUncertain significance
Select item 893202	NM_001161748.2(LIM2):c.*245A>G	LIM2	Single nucleotide variant (3 prime UTR variant)	Cataract 19 multiple types	GUncertain significance
Select item 329970	NM_001161748.2(LIM2):c.*218C>G	LIM2	Single nucleotide variant (3 prime UTR variant)	Cataract 19 multiple types	GUncertain significance
Select item 893203	NM_001161748.2(LIM2):c.*58G>A	LIM2	Single nucleotide variant (3 prime UTR variant)	Cataract 19 multiple types	GUncertain significance
Select item 1430326	NM_001161748.2(LIM2):c.502C>T (p.Arg168Cys)	LIM2 (R210C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 893204	NM_001161748.2(LIM2):c.500G>A (p.Arg167Gln)	LIM2 (R209Q +1 more)	Single nucleotide variant (missense variant)	Cataract 19 multiple types	GUncertain significance
Select item 2467996	NM_001161748.2(LIM2):c.490C>T (p.His164Tyr)	LIM2 (H164Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2739858	NM_001161748.2(LIM2):c.487G>A (p.Val163Met)	LIM2 (V163M +1 more)	Single nucleotide variant (missense variant)	Cataract 19 multiple types	GUncertain significance
Select item 1029169	NM_001161748.2(LIM2):c.484C>T (p.Arg162Trp)	LIM2 (R162W +1 more)	Single nucleotide variant (missense variant)	Cataract 19 multiple types	GUncertain significance
Select item 3047487	NM_001161748.2(LIM2):c.483C>T (p.Tyr161=)	LIM2	Single nucleotide variant (synonymous variant)	LIM2-related disorder	GLikely benign
Select item 224327	NM_001161748.2(LIM2):c.461G>A (p.Gly154Glu)	LIM2 (G154E +1 more)	Single nucleotide variant (missense variant)	Cataract 19 multiple types	GPathogenic
Select item 1943184	NM_001161748.2(LIM2):c.461-15C>A	LIM2	Single nucleotide variant (intron variant)	Cataract 19 multiple types	GLikely benign
Select item 1274050	NM_001161748.2(LIM2):c.460+32C>T	LIM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2903793	NM_001161748.2(LIM2):c.460+19G>C	LIM2	Single nucleotide variant (intron variant)	Cataract 19 multiple types	GBenign
Select item 2700212	NM_001161748.2(LIM2):c.460+13A>T	LIM2	Single nucleotide variant (intron variant)	Cataract 19 multiple types	GLikely benign
Select item 894047	NM_001161748.2(LIM2):c.460+9G>A	LIM2	Single nucleotide variant (intron variant)	Cataract 19 multiple types	GUncertain significance
Select item 2516804	NM_001161748.2(LIM2):c.440T>C (p.Val147Ala)	LIM2 (V147A +1 more)	Single nucleotide variant (missense variant)	Cataract 19 multiple types +1 more	GUncertain significance
Select item 474242	NM_001161748.2(LIM2):c.420C>A (p.Tyr140Ter)	LIM2 (Y182* +1 more)	Single nucleotide variant (nonsense)	Cataract 19 multiple types	GUncertain significance
Select item 3118828	NM_001161748.2(LIM2):c.389G>A (p.Arg130His)	LIM2 (R130H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 625113	NM_001161748.2(LIM2):c.388C>T (p.Arg130Cys)	LIM2 (R130C +1 more)	Single nucleotide variant (missense variant)	LIM2-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 2579304	NM_001161748.2(LIM2):c.385C>T (p.Arg129Cys)	LIM2 (R129C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 894048	NM_001161748.2(LIM2):c.380T>C (p.Leu127Pro)	LIM2 (L127P +1 more)	Single nucleotide variant (missense variant)	Cataract 19 multiple types +1 more	GUncertain significance
Select item 1582934	NM_001161748.2(LIM2):c.369C>T (p.Thr123=)	LIM2	Single nucleotide variant (synonymous variant)	Cataract 19 multiple types	GLikely benign
Select item 894049	NM_001161748.2(LIM2):c.357C>T (p.Tyr119=)	LIM2	Single nucleotide variant (synonymous variant)	Cataract 19 multiple types	GUncertain significance
Select item 2174715	NM_001161748.2(LIM2):c.356A>G (p.Tyr119Cys)	LIM2 (Y119C +1 more)	Single nucleotide variant (missense variant)	Cataract 19 multiple types	GUncertain significance
Select item 894050	NM_001161748.2(LIM2):c.337G>C (p.Val113Leu)	LIM2 (V113L +1 more)	Single nucleotide variant (missense variant)	Cataract 19 multiple types +1 more	GConflicting classifications of pathogenicity
Select item 329971	NM_001161748.2(LIM2):c.337G>A (p.Val113Met)	LIM2 (V155M +1 more)	Single nucleotide variant (missense variant)	Cataract 19 multiple types +1 more	GConflicting classifications of pathogenicity
Select item 329972	NM_001161748.2(LIM2):c.334G>A (p.Val112Ile)	LIM2 (V154I +1 more)	Single nucleotide variant (missense variant)	Cataract 19 multiple types	GUncertain significance
Select item 894051	NM_001161748.2(LIM2):c.333C>T (p.Phe111=)	LIM2	Single nucleotide variant (synonymous variant)	Cataract 19 multiple types	GUncertain significance
Select item 1587324	NM_001161748.2(LIM2):c.326-15G>A	LIM2	Single nucleotide variant (intron variant)	Cataract 19 multiple types	GLikely benign
Select item 1254651	NM_001161748.2(LIM2):c.325+307G>A	LIM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281051	NM_001161748.2(LIM2):c.325+202G>A	LIM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1015882	NM_001161748.2(LIM2):c.321del (p.Ser108fs)	LIM2 (S108fs +1 more)	Deletion (frameshift variant)	Cataract 19 multiple types	GUncertain significance
Select item 14356	NM_001161748.2(LIM2):c.313T>G (p.Phe105Val)	LIM2 (F105V +1 more)	Single nucleotide variant (missense variant)	Cataract 19 multiple types	GPathogenic
Select item 3118827	NM_001161748.2(LIM2):c.312G>A (p.Met104Ile)	LIM2 (M146I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1345456	NM_001161748.2(LIM2):c.281G>A (p.Arg94His)	LIM2 (R136H +1 more)	Single nucleotide variant (missense variant)	Cataract 19 multiple types +1 more	GUncertain significance
Select item 329973	NM_001161748.2(LIM2):c.248T>C (p.Ile83Thr)	LIM2 (I125T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 329974	NM_001161748.2(LIM2):c.231C>T (p.Ser77=)	LIM2	Single nucleotide variant (synonymous variant)	Cataract 19 multiple types +1 more	GConflicting classifications of pathogenicity
Select item 2799612	NM_001161748.2(LIM2):c.222C>T (p.Cys74=)	LIM2	Single nucleotide variant (synonymous variant)	Cataract 19 multiple types	GLikely benign
Select item 894447	NM_001161748.2(LIM2):c.193C>T (p.Arg65Trp)	LIM2 (R65W +1 more)	Single nucleotide variant (missense variant)	Cataract 19 multiple types	GUncertain significance
Select item 3118825	NM_001161748.2(LIM2):c.179A>G (p.Tyr60Cys)	LIM2 (Y102C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1264881	NM_001161748.2(LIM2):c.175+412_175+415del	LIM2	Microsatellite (intron variant)	not provided	GBenign
Select item 1272880	NM_001161748.2(LIM2):c.175+337C>T	LIM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 894448	NM_001161748.2(LIM2):c.175+113G>C	LIM2-AS1, LIM2 (K96N)	Single nucleotide variant (missense variant +1 more)	Cataract 19 multiple types	GUncertain significance
Select item 2259466	NM_001161748.2(LIM2):c.175+108G>A	LIM2, LIM2-AS1 (G95R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1050919	NM_001161748.2(LIM2):c.175+87A>G	LIM2, LIM2-AS1 (R88G)	Single nucleotide variant (intron variant +1 more)	Cataract 19 multiple types	GUncertain significance
Select item 702016	NM_001161748.2(LIM2):c.175+83A>G	LIM2-AS1, LIM2	Single nucleotide variant (synonymous variant +1 more)	LIM2-related disorder +1 more	GLikely benign
Select item 894449	NM_001161748.2(LIM2):c.175+77T>C	LIM2, LIM2-AS1	Single nucleotide variant (synonymous variant +1 more)	Cataract 19 multiple types	GUncertain significance
Select item 894450	NM_001161748.2(LIM2):c.175+56C>T	LIM2, LIM2-AS1	Single nucleotide variant (synonymous variant +1 more)	Cataract 19 multiple types	GUncertain significance
Select item 703338	NM_001161748.2(LIM2):c.175+50G>A	LIM2, LIM2-AS1	Single nucleotide variant (synonymous variant +1 more)	Cataract 19 multiple types	GConflicting classifications of pathogenicity
Select item 1514417	NM_001161748.2(LIM2):c.175+46G>A	LIM2, LIM2-AS1 (R74K)	Single nucleotide variant (missense variant +1 more)	Cataract 19 multiple types	GUncertain significance
Select item 3235781	NM_001161748.2(LIM2):c.175+31C>T	LIM2, LIM2-AS1 (A69V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 894451	NM_001161748.2(LIM2):c.175+30G>A	LIM2, LIM2-AS1 (A69T)	Single nucleotide variant (missense variant +1 more)	Cataract 19 multiple types	GUncertain significance
Select item 3031821	NM_001161748.2(LIM2):c.175+29C>T	LIM2, LIM2-AS1	Single nucleotide variant (synonymous variant +1 more)	LIM2-related disorder	GLikely benign
Select item 329975	NM_001161748.2(LIM2):c.175+28G>A	LIM2, LIM2-AS1 (R68H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 702391	NM_001161748.2(LIM2):c.175+11C>T	LIM2, LIM2-AS1	Single nucleotide variant (synonymous variant +1 more)	Cataract 19 multiple types	GBenign/Likely benign
Select item 2258488	NM_001161748.2(LIM2):c.175+7C>T	LIM2, LIM2-AS1 (P61L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 893018	NM_001161748.2(LIM2):c.174C>T (p.Ile58=)	LIM2, LIM2-AS1	Single nucleotide variant (synonymous variant)	Cataract 19 multiple types	GUncertain significance
Select item 2634448	NM_001161748.2(LIM2):c.158T>C (p.Leu53Pro)	LIM2, LIM2-AS1 (L53P)	Single nucleotide variant (missense variant)	LIM2-related disorder	GUncertain significance
Select item 3000015	NM_001161748.2(LIM2):c.144C>T (p.Gly48=)	LIM2, LIM2-AS1	Single nucleotide variant (synonymous variant)	Cataract 19 multiple types	GLikely benign
Select item 893019	NM_001161748.2(LIM2):c.141G>C (p.Leu47=)	LIM2-AS1, LIM2	Single nucleotide variant (synonymous variant)	Cataract 19 multiple types	GUncertain significance
Select item 329976	NM_001161748.2(LIM2):c.131G>A (p.Arg44Gln)	LIM2, LIM2-AS1 (R44Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2459542	NM_001161748.2(LIM2):c.130C>T (p.Arg44Trp)	LIM2, LIM2-AS1 (R44W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 329977	NM_001161748.2(LIM2):c.108C>T (p.Ser36=)	LIM2, LIM2-AS1	Single nucleotide variant (synonymous variant)	Cataract 19 multiple types	GUncertain significance
Select item 893020	NM_001161748.2(LIM2):c.100T>A (p.Ser34Thr)	LIM2, LIM2-AS1 (S34T)	Single nucleotide variant (missense variant)	Cataract 19 multiple types	GUncertain significance
Select item 2516882	NM_001161748.2(LIM2):c.94C>T (p.Arg32Trp)	LIM2, LIM2-AS1 (R32W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 541269	NM_001161748.2(LIM2):c.57G>A (p.Leu19=)	LIM2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 329978	NM_001161748.2(LIM2):c.40G>A (p.Val14Met)	LIM2 (V14M)	Single nucleotide variant (missense variant)	Cataract 19 multiple types	GUncertain significance
Select item 3118826	NM_001161748.2(LIM2):c.38G>C (p.Trp13Ser)	LIM2 (W13S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 893238	NM_001161748.2(LIM2):c.24C>T (p.Gly8=)	LIM2	Single nucleotide variant (synonymous variant)	Cataract 19 multiple types	GUncertain significance
Select item 1243472	NM_001161748.2(LIM2):c.-6-38A>G	LIM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269935	NM_001161748.2(LIM2):c.-6-42C>T	LIM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273278	NM_001161748.2(LIM2):c.-6-62C>T	LIM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241996	NM_001161748.2(LIM2):c.-6-219C>T	LIM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 329979	NM_001161748.2(LIM2):c.-7+14G>A	LIM2	Single nucleotide variant (intron variant)	Cataract 19 multiple types	GUncertain significance
Select item 893239	NM_001161748.2(LIM2):c.-27C>A	LIM2	Single nucleotide variant (5 prime UTR variant)	Cataract 19 multiple types	GUncertain significance
Select item 329980	NM_001161748.2(LIM2):c.-27C>T	LIM2	Single nucleotide variant (5 prime UTR variant)	Cataract 19 multiple types	GLikely benign
Select item 329981	NM_001161748.2(LIM2):c.-29C>G	LIM2	Single nucleotide variant (5 prime UTR variant)	Cataract 19 multiple types	GUncertain significance
Select item 329982	NM_001161748.2(LIM2):c.-41G>A	LIM2	Single nucleotide variant (5 prime UTR variant)	Cataract 19 multiple types	GUncertain significance
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 2424337	NC_000019.9:g.(?_51727962)_(51890697_?)del	NKG7, CD33 +6 more	Deletion	Multiple acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 1526670	GRCh37/hg19 19q13.33-13.41(chr19:49911081-53127438)	FPR3, ZNF577 +115 more	Copy number gain	not specified	GLikely pathogenic
Select item 1340619	GRCh37/hg19 19q13.41(chr19:51769834-52415762)x3	CEACAM18, CLDND2 +21 more	Copy number gain	not provided	GUncertain significance
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	FLT3LG, FPR1 +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	FUZ, GARIN5A +228 more	Copy number gain	not provided	Gnot provided
Select item 816089	GRCh37/hg19 19q13.33-13.41(chr19:50469730-51916485)x3	ACP4, ASPDH +46 more	Copy number gain	not provided	GUncertain significance
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	CLDND2, IGSF23 +293 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic

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Items: 98