"GeneDx"[submitter] AND "LIM2"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 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 1274050	NM_001161748.2(LIM2):c.460+32C>T	LIM2	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 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 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 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 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 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 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