"GeneDx"[submitter] AND "LIMS2"[gene] - ClinVar

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Search results

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60185	GRCh38/hg38 2q14.3(chr2:121824798-128870804)x1	AMMECR1L, BIN1 +121 more	Copy number loss	See cases	GPathogenic
Select item 60186	GRCh38/hg38 2q14.3(chr2:122324343-128371704)x1	LOC115945190, LOC120961783 +101 more	Copy number loss	See cases	GPathogenic
Select item 1257147	NM_001161403.3(LIMS2):c.*49T>C	LIMS2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1266680	NM_001161403.3(LIMS2):c.878+227A>G	LIMS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231348	NM_001161403.3(LIMS2):c.878+193_878+201del	LIMS2	Microsatellite (intron variant)	not provided	GBenign
Select item 1287472	NM_001161403.3(LIMS2):c.803-14C>T	LIMS2	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W +1 more	GBenign
Select item 1262439	NM_001161403.3(LIMS2):c.661-277A>G	LIMS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278702	NM_001161403.3(LIMS2):c.660+315G>C	LIMS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241356	NM_001161403.3(LIMS2):c.660+210C>T	LIMS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183942	NM_001161403.3(LIMS2):c.510-150A>G	LIMS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248749	NM_001161403.3(LIMS2):c.509+65C>T	LIMS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 260987	NM_001161403.3(LIMS2):c.399G>A (p.Lys133=)	LIMS2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 1221160	NM_001161403.3(LIMS2):c.360-136C>T	LIMS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178154	NM_001161403.3(LIMS2):c.359+192C>T	LIMS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248490	NM_001161403.3(LIMS2):c.359+64T>C	LIMS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268344	NM_001161403.3(LIMS2):c.359+48T>C	LIMS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183840	NM_001161403.3(LIMS2):c.172-309C>T	LIMS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281280	NM_001161403.3(LIMS2):c.171+298T>C	LIMS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183138	NM_001161403.3(LIMS2):c.12-77C>T	LIMS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223284	NM_001161403.3(LIMS2):c.12-6627G>A	LIMS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295894	NM_001161403.3(LIMS2):c.12-6689G>A	LIMS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233385	NM_001161403.3(LIMS2):c.12-6693C>T	LIMS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260698	NM_001161403.3(LIMS2):c.12-7142G>C	LIMS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243431	NM_001161403.3(LIMS2):c.11+1400T>C	LIMS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246065	NM_001161403.3(LIMS2):c.11+1191T>C	LIMS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294978	NM_001161403.3(LIMS2):c.11+1112C>A	LIMS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241968	NM_001161403.3(LIMS2):c.11+1094T>C	LIMS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228289	NM_001161403.3(LIMS2):c.11+976dup	LIMS2	Duplication (intron variant)	not provided	GBenign
Select item 1295303	NM_001161403.3(LIMS2):c.11+77G>A	LIMS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249181	NM_001161403.3(LIMS2):c.11+54T>C	LIMS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258662	NM_001161403.3(LIMS2):c.-40CGGCAACCC[1]	LIMS2	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1261078	NM_001161403.3(LIMS2):c.-194T>C	LIMS2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1228608	NM_001161403.3(LIMS2):c.-388T>G	LIMS2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign

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Items: 33