C4225192[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2689370	NM_001161403.3(LIMS2):c.1025_*22del (p.Ter342Xaa)	LIMS2	Deletion (stop lost)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 1354331	NM_001161403.3(LIMS2):c.971C>T (p.Ser324Leu)	LIMS2 (S172L +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 475543	NM_001161403.3(LIMS2):c.958_969dup (p.Leu320_Leu323dup)	LIMS2	Duplication (inframe_insertion)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 835569	NM_001161403.3(LIMS2):c.940C>A (p.Leu314Met)	LIMS2 (L336M +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 2433445	NM_001161403.3(LIMS2):c.898G>C (p.Asp300His)	LIMS2 (D148H +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 2433440	NM_001161403.3(LIMS2):c.884A>G (p.Lys295Arg)	LIMS2 (K143R +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 542250	NM_001161403.3(LIMS2):c.882C>A (p.Asn294Lys)	LIMS2 (N289K +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GConflicting classifications of pathogenicity
Select item 2433442	NM_001161403.3(LIMS2):c.809C>T (p.Ser270Leu)	LIMS2 (S118L +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2409610	NM_001161403.3(LIMS2):c.799G>A (p.Asp267Asn)	LIMS2 (D115N +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1925539	NM_001161403.3(LIMS2):c.754-2A>G	LIMS2	Single nucleotide variant (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 542251	NM_001161403.3(LIMS2):c.752A>G (p.Gln251Arg)	LIMS2 (Q275R +4 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2433441	NM_001161403.3(LIMS2):c.704G>A (p.Arg235Gln)	LIMS2 (R230Q +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 2433447	NM_001161403.3(LIMS2):c.703C>T (p.Arg235Trp)	LIMS2 (R230W +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 847562	NM_001161403.3(LIMS2):c.669_672del (p.Cys224fs)	LIMS2 (C246fs +4 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 957002	NM_001161403.3(LIMS2):c.665_666del (p.Phe222fs)	LIMS2 (F217fs +4 more)	Deletion (frameshift variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 582942	NM_001161403.3(LIMS2):c.661C>T (p.His221Tyr)	LIMS2 (H216Y +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 1323235	NM_001161403.3(LIMS2):c.661-2A>C	LIMS2	Single nucleotide variant (splice acceptor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GPathogenic
Select item 858302	NM_001161403.3(LIMS2):c.635C>T (p.Ala212Val)	LIMS2 (A207V +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W +1 more	GUncertain significance
Select item 2433435	NM_001161403.3(LIMS2):c.634G>A (p.Ala212Thr)	LIMS2 (A207T +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 475549	NM_001161403.3(LIMS2):c.628G>A (p.Val210Ile)	LIMS2 (V234I +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2433451	NM_001161403.3(LIMS2):c.623G>A (p.Arg208Gln)	LIMS2 (R203Q +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 566596	NM_001161403.3(LIMS2):c.619G>A (p.Gly207Ser)	LIMS2 (G202S +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 863894	NM_001161403.3(LIMS2):c.616G>A (p.Glu206Lys)	LIMS2 (E201K +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 644767	NM_001161403.3(LIMS2):c.605G>A (p.Arg202His)	LIMS2 (R224H +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W +1 more	GUncertain significance
Select item 2433448	NM_001161403.3(LIMS2):c.584T>C (p.Val195Ala)	LIMS2 (V190A +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 2433438	NM_001161403.3(LIMS2):c.583G>A (p.Val195Ile)	LIMS2 (V190I +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 2433456	NM_001161403.3(LIMS2):c.566G>A (p.Cys189Tyr)	LIMS2 (C184Y +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 569601	NM_001161403.3(LIMS2):c.533G>A (p.Arg178His)	LIMS2 (R173H +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2433439	NM_001161403.3(LIMS2):c.458T>C (p.Met153Thr)	LIMS2 (M148T +4 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 967259	NM_001161403.3(LIMS2):c.445G>A (p.Glu149Lys)	LIMS2 (E144K +3 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 1407547	NM_001161403.3(LIMS2):c.433C>G (p.Leu145Val)	LIMS2 (L167V +3 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 1438959	NM_001161403.3(LIMS2):c.424C>T (p.Arg142Trp)	LIMS2 (R164W +3 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 2689371	NM_001161403.3(LIMS2):c.386G>A (p.Arg129His)	LIMS2 (R124H +3 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 2433436	NM_001161403.3(LIMS2):c.386G>T (p.Arg129Leu)	LIMS2 (R124L +3 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 1041213	NM_001161403.3(LIMS2):c.345GAA[1] (p.Lys116del)	LIMS2 (K111del +3 more)	Microsatellite (inframe_deletion)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 580827	NM_001161403.3(LIMS2):c.301C>T (p.Arg101Cys)	LIMS2 (R96C +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 242437	NM_001161403.3(LIMS2):c.290C>T (p.Pro97Leu)	LIMS2 (P119L +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 475546	NM_001161403.3(LIMS2):c.289C>T (p.Pro97Ser)	LIMS2 (P121S +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 568802	NM_001161403.3(LIMS2):c.278A>G (p.Asn93Ser)	LIMS2 (N88S +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 574732	NM_001161403.3(LIMS2):c.256C>T (p.Arg86Cys)	LIMS2 (R110C +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 864593	NM_001161403.3(LIMS2):c.233C>A (p.Ser78Tyr)	LIMS2 (S73Y +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W +1 more	GUncertain significance
Select item 2433454	NM_001161403.3(LIMS2):c.182G>A (p.Arg61Gln)	LIMS2 (R56Q +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 2433450	NM_001161403.3(LIMS2):c.158G>A (p.Gly53Glu)	LIMS2 (G48E +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 2433443	NM_001161403.3(LIMS2):c.155A>G (p.Glu52Gly)	LIMS2 (E47G +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 1061830	NM_001161403.3(LIMS2):c.145C>A (p.Pro49Thr)	LIMS2 (P44T +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2208879	NM_001161403.3(LIMS2):c.143G>A (p.Arg48Gln)	LIMS2 (R43Q +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 648145	NM_001161403.3(LIMS2):c.108C>A (p.Tyr36Ter)	LIMS2 (Y36* +3 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 2433453	NM_001161403.3(LIMS2):c.107A>G (p.Tyr36Cys)	LIMS2 (Y31C +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 1054901	NM_001161403.3(LIMS2):c.79C>T (p.Arg27Cys)	LIMS2 (R22C +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 576829	NM_001161403.3(LIMS2):c.73G>A (p.Ala25Thr)	LIMS2 (A20T +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1054460	NM_001161403.3(LIMS2):c.49C>T (p.Arg17Cys)	LIMS2 (R12C +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2433449	NM_001161403.3(LIMS2):c.40G>A (p.Val14Met)	LIMS2 (V14M +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 1362387	NM_001161403.3(LIMS2):c.20C>T (p.Ser7Leu)	LIMS2 (S7L +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 835345	NM_001161403.3(LIMS2):c.11+1332_11+1333dup	LIMS2 (W25fs)	Duplication (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 1358409	NM_001161403.3(LIMS2):c.11+1305G>A	LIMS2 (G16R)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 2433437	NM_001161403.3(LIMS2):c.11+1291C>G	LIMS2 (T11R)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 2433444	NM_001161403.3(LIMS2):c.11+1287G>T	LIMS2 (E10*)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance

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Items: 57