ClinVar for Gene (Select 55679) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3290763	NM_001161403.3(LIMS2):c.332A>G (p.Asp111Gly)	LIMS2 (D111G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290762	NM_001161403.3(LIMS2):c.765C>A (p.Asp255Glu)	LIMS2 (D103E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282314	NM_001161417.2(GPR17):c.-18T>C	GPR17, LIMS2 (S23P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3282313	NM_001161417.2(GPR17):c.817C>T (p.Arg273Cys)	GPR17, LIMS2 (R273C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220918	NM_001161403.3(LIMS2):c.964A>T (p.Lys322Ter)	LIMS2 (K170* +4 more)	Single nucleotide variant (nonsense)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 3118918	NM_001161403.3(LIMS2):c.499A>G (p.Thr167Ala)	LIMS2 (T15A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3118917	NM_001161403.3(LIMS2):c.494A>G (p.Asn165Ser)	LIMS2 (N160S +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3118916	NM_001161403.3(LIMS2):c.12-6780G>T	LIMS2 (R16L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118915	NM_001161403.3(LIMS2):c.338G>A (p.Gly113Asp)	LIMS2 (G108D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101606	NM_001161417.2(GPR17):c.775G>A (p.Val259Met)	GPR17, LIMS2 (V259M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101605	NM_001161417.2(GPR17):c.745G>A (p.Val249Met)	GPR17, LIMS2 (V249M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101604	NM_001161417.2(GPR17):c.683G>A (p.Arg228His)	GPR17, LIMS2 (R228H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101603	NM_001161417.2(GPR17):c.650G>A (p.Arg217His)	GPR17, LIMS2 (R245H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101602	NM_001161417.2(GPR17):c.625G>A (p.Val209Ile)	GPR17, LIMS2 (V209I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101600	NM_001161417.2(GPR17):c.358T>C (p.Tyr120His)	GPR17, LIMS2 (Y120H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101599	NM_001161417.2(GPR17):c.314G>A (p.Arg105His)	GPR17, LIMS2 (R133H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3065195	NM_001161403.3(LIMS2):c.430del (p.His144fs)	LIMS2 (H139fs +3 more)	Deletion (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GLikely pathogenic
Select item 3062651	GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1	ACOXL, ACTR3 +121 more	Copy number loss	not specified	GPathogenic
Select item 3062624	GRCh37/hg19 2q14.3(chr2:125361063-129616153)x3	AMMECR1L, BIN1 +16 more	Copy number gain	not specified	GUncertain significance
Select item 3047640	NM_001161403.3(LIMS2):c.366C>T (p.Leu122=)	LIMS2	Single nucleotide variant (synonymous variant +1 more)	LIMS2-related disorder	GLikely benign
Select item 3040083	NM_001161403.3(LIMS2):c.-3A>T	LIMS2	Single nucleotide variant (5 prime UTR variant +1 more)	LIMS2-related disorder	GLikely benign
Select item 2998368	NM_001161403.3(LIMS2):c.5C>G (p.Thr2Arg)	LIMS2 (T2R)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 2987009	NM_001161403.3(LIMS2):c.928G>A (p.Glu310Lys)	LIMS2 (E158K +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 2981861	NM_001161403.3(LIMS2):c.802+18C>T	LIMS2	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GLikely benign
Select item 2964914	NM_001161403.3(LIMS2):c.24C>A (p.Asp8Glu)	LIMS2 (D32E +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 2920440	NM_001161403.3(LIMS2):c.243G>A (p.Glu81=)	LIMS2	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GLikely benign
Select item 2916501	NM_001161403.3(LIMS2):c.471C>G (p.Asp157Glu)	LIMS2 (D157E +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 2913079	NM_001161403.3(LIMS2):c.11+1349C>T	LIMS2	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GLikely benign
Select item 2912762	NM_001161403.3(LIMS2):c.91A>G (p.Ser31Gly)	LIMS2 (S26G +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 2911135	NM_001161403.3(LIMS2):c.11+12C>T	LIMS2	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GLikely benign
Select item 2890435	NM_001161403.3(LIMS2):c.985C>T (p.Arg329Cys)	LIMS2 (R324C +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 2888412	NM_001161403.3(LIMS2):c.802+13G>A	LIMS2	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GLikely benign
Select item 2884573	NM_001161403.3(LIMS2):c.172-9C>T	LIMS2	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GLikely benign
Select item 2883195	NM_001161403.3(LIMS2):c.661-19C>G	LIMS2	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GLikely benign
Select item 2882672	NM_001161403.3(LIMS2):c.982T>C (p.Ser328Pro)	LIMS2 (S323P +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 2879967	NM_001161403.3(LIMS2):c.655G>A (p.Val219Met)	LIMS2 (V243M +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 2872837	NM_001161403.3(LIMS2):c.457A>G (p.Met153Val)	LIMS2 (M153V +4 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 2871881	NM_001161403.3(LIMS2):c.239-14C>T	LIMS2	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GLikely benign
Select item 2869725	NM_001161403.3(LIMS2):c.239-10C>T	LIMS2	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GLikely benign
Select item 2866695	NM_001161403.3(LIMS2):c.11+1267C>T	LIMS2	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GLikely benign
Select item 2866424	NM_001161403.3(LIMS2):c.760G>A (p.Gly254Arg)	LIMS2 (G276R +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 2864620	NM_001161403.3(LIMS2):c.11+1345G>A	LIMS2	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GLikely benign
Select item 2848298	NM_001161403.3(LIMS2):c.246CAT[1] (p.Ile84del)	LIMS2 (I106del +3 more)	Microsatellite (inframe_deletion)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 2845119	NM_001161403.3(LIMS2):c.12-5C>T	LIMS2	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GLikely benign
Select item 2834637	NM_001161403.3(LIMS2):c.238+1G>A	LIMS2	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 2833792	NM_001161403.3(LIMS2):c.639G>A (p.Leu213=)	LIMS2	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GLikely benign
Select item 2830027	NM_001161403.3(LIMS2):c.713A>C (p.Glu238Ala)	LIMS2 (E260A +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 2812376	NM_001161403.3(LIMS2):c.981C>A (p.Thr327=)	LIMS2	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GLikely benign
Select item 2811040	NM_001161403.3(LIMS2):c.960_961insT (p.Lys321Ter)	LIMS2 (K321* +4 more)	Insertion (nonsense +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 2807933	NM_001161403.3(LIMS2):c.878+5G>C	LIMS2	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 2806351	NM_001161403.3(LIMS2):c.534C>T (p.Arg178=)	LIMS2	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GLikely benign
Select item 2803028	NM_001161403.3(LIMS2):c.687G>A (p.Lys229=)	LIMS2	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GLikely benign
Select item 2799261	NM_001161403.3(LIMS2):c.898G>A (p.Asp300Asn)	LIMS2 (D148N +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 2768134	NM_001161403.3(LIMS2):c.754-15C>A	LIMS2	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GLikely benign
Select item 2746732	NM_001161403.3(LIMS2):c.528G>A (p.Glu176=)	LIMS2	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GLikely benign
Select item 2741901	NM_001161403.3(LIMS2):c.171+9_171+13del	LIMS2	Deletion (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GLikely benign
Select item 2741794	NM_001161403.3(LIMS2):c.802+7C>G	LIMS2	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GLikely benign
Select item 2739039	NM_001161403.3(LIMS2):c.833T>A (p.Val278Glu)	LIMS2 (V273E +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 2730230	NM_001161403.3(LIMS2):c.803-13G>A	LIMS2	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GLikely benign
Select item 2724679	NM_001161403.3(LIMS2):c.595G>C (p.Gly199Arg)	LIMS2 (G199R +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 2724365	NM_001161403.3(LIMS2):c.444C>T (p.Asp148=)	LIMS2	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GLikely benign
Select item 2717469	NM_001161403.3(LIMS2):c.258C>T (p.Arg86=)	LIMS2	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GLikely benign
Select item 2716263	NM_001161403.3(LIMS2):c.159G>C (p.Gly53=)	LIMS2	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GLikely benign
Select item 2702364	NM_001161403.3(LIMS2):c.238+8C>T	LIMS2	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GLikely benign
Select item 2694930	NM_001161403.3(LIMS2):c.171+17G>A	LIMS2	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GLikely benign
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 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 2684675	GRCh37/hg19 2q14.3(chr2:124806439-128906413)x1	AMMECR1L, BIN1 +15 more	Copy number loss	not provided	GUncertain significance
Select item 2651342	NM_001161403.3(LIMS2):c.359+1227C>T	LIMS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2651341	NM_001161403.3(LIMS2):c.359+1308C>T	LIMS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2585055	NM_001161403.3(LIMS2):c.238+1G>T	LIMS2	Single nucleotide variant (splice donor variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GLikely pathogenic
Select item 2561604	NM_001161417.2(GPR17):c.764G>A (p.Arg255His)	GPR17, LIMS2 (R255H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533910	NM_001161403.3(LIMS2):c.355G>A (p.Gly119Ser)	LIMS2 (G114S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485844	NM_001161417.2(GPR17):c.491C>A (p.Ala164Asp)	GPR17, LIMS2 (A192D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469515	NM_001161417.2(GPR17):c.20C>T (p.Ala7Val)	GPR17, LIMS2 (A7V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 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 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 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 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 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 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 2433447	NM_001161403.3(LIMS2):c.703C>T (p.Arg235Trp)	LIMS2 (R230W +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W +1 more	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 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
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 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 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 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 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 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 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 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 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 2428186	NM_001161403.3(LIMS2):c.89A>G (p.Asn30Ser)	LIMS2 (N25S +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 2422856	NC_000002.11:g.(?_127806102)_(129076137_?)del	AMMECR1L, BIN1 +14 more	Deletion	Thrombophilia due to protein C deficiency, autosomal dominant	GPathogenic
Select item 2422380	NC_000002.11:g.(?_127451420)_(129076137_?)del	AMMECR1L, BIN1 +15 more	Deletion	not provided	GPathogenic
Select item 2420861	NM_001161403.3(LIMS2):c.666T>G (p.Phe222Leu)	LIMS2 (F217L +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 2420149	NM_001161403.3(LIMS2):c.221C>T (p.Pro74Leu)	LIMS2 (P69L +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 2409610	NM_001161403.3(LIMS2):c.799G>A (p.Asp267Asn)	LIMS2 (D115N +4 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W +1 more	GUncertain significance

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