"Ambry Genetics"[submitter] AND "LIM2"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Inborn genetic diseases +1 more	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)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3290725	NM_001161748.2(LIM2):c.449C>T (p.Thr150Met)	LIM2 (T150M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 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 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 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 3290727	NM_001161748.2(LIM2):c.329T>A (p.Leu110His)	LIM2 (L152H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3290726	NM_001161748.2(LIM2):c.290G>A (p.Arg97Gln)	LIM2 (R97Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 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 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 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 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 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 +2 more	GConflicting classifications of pathogenicity
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 3290729	NM_001161748.2(LIM2):c.7A>G (p.Ser3Gly)	LIM2 (S3G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 24