ClinVar for OMIM (Select 615277) - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338262	NM_001161748.2(LIM2):c.457G>A (p.Ala153Thr)	LIM2 (A153T +1 more)	Single nucleotide variant (missense variant)	Cataract 19 multiple types	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 2903793	NM_001161748.2(LIM2):c.460+19G>C	LIM2	Single nucleotide variant (intron variant)	Cataract 19 multiple types	GBenign
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 2739858	NM_001161748.2(LIM2):c.487G>A (p.Val163Met)	LIM2 (V163M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 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 2174715	NM_001161748.2(LIM2):c.356A>G (p.Tyr119Cys)	LIM2 (Y119C +1 more)	Single nucleotide variant (missense variant)	Cataract 19 multiple types +1 more	GUncertain significance
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 1587324	NM_001161748.2(LIM2):c.326-15G>A	LIM2	Single nucleotide variant (intron variant)	Cataract 19 multiple types	GLikely benign
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 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 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 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 1050919	NM_001161748.2(LIM2):c.175+87A>G	LIM2, LIM2-AS1 (R88G)	Single nucleotide variant (missense variant +1 more)	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 1015882	NM_001161748.2(LIM2):c.321del (p.Ser108fs)	LIM2 (S108fs +1 more)	Deletion (frameshift variant)	Cataract 19 multiple types	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 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 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 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 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 894051	NM_001161748.2(LIM2):c.333C>T (p.Phe111=)	LIM2	Single nucleotide variant (synonymous 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 894049	NM_001161748.2(LIM2):c.357C>T (p.Tyr119=)	LIM2	Single nucleotide variant (synonymous variant)	Cataract 19 multiple types	GUncertain significance
Select item 894048	NM_001161748.2(LIM2):c.380T>C (p.Leu127Pro)	LIM2 (L127P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 893239	NM_001161748.2(LIM2):c.-27C>A	LIM2	Single nucleotide variant (5 prime UTR variant)	Cataract 19 multiple types	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 893204	NM_001161748.2(LIM2):c.500G>A (p.Arg167Gln)	LIM2 (R209Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 893202	NM_001161748.2(LIM2):c.*245A>G	LIM2	Single nucleotide variant (3 prime UTR variant)	Cataract 19 multiple types	GUncertain significance
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 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 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 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 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 702391	NM_001161748.2(LIM2):c.175+11C>T	LIM2, LIM2-AS1	Single nucleotide variant (synonymous variant +1 more)	Cataract 19 multiple types +1 more	GBenign/Likely benign
Select item 702016	NM_001161748.2(LIM2):c.175+83A>G	LIM2-AS1, LIM2	Single nucleotide variant (synonymous variant +1 more)	Cataract 19 multiple types	GLikely benign
Select item 625113	NM_001161748.2(LIM2):c.388C>T (p.Arg130Cys)	LIM2 (R130C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 541269	NM_001161748.2(LIM2):c.57G>A (p.Leu19=)	LIM2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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 329982	NM_001161748.2(LIM2):c.-41G>A	LIM2	Single nucleotide variant (5 prime UTR variant)	Cataract 19 multiple types	GUncertain significance
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 329980	NM_001161748.2(LIM2):c.-27C>T	LIM2	Single nucleotide variant (5 prime UTR variant)	Cataract 19 multiple types +1 more	GLikely benign
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 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 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 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 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 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 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 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 329971	NM_001161748.2(LIM2):c.337G>A (p.Val113Met)	LIM2 (V155M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 140594	NM_004309.6(ARHGDIA):c.358C>T (p.Arg120Ter)	ARHGDIA (R120* +1 more)	Single nucleotide variant (nonsense +1 more)	Nephrotic syndrome, type 8	GPathogenic
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

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Links from OMIM

Items: 58