"Ambry Genetics"[submitter] AND "LIMS2"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 475551	NM_001161403.3(LIMS2):c.793G>A (p.Glu265Lys)	LIMS2 (E289K +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	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 2162871	NM_001161403.3(LIMS2):c.736G>A (p.Glu246Lys)	LIMS2 (E241K +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	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 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 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 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 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 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 1387330	NM_001161403.3(LIMS2):c.425G>A (p.Arg142Gln)	LIMS2 (R137Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 951039	NM_001161403.3(LIMS2):c.371G>A (p.Arg124Gln)	LIMS2 (R148Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	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 2357005	NM_001161417.2(GPR17):c.95T>A (p.Met32Lys)	GPR17, LIMS2 (M32K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368568	NM_001161417.2(GPR17):c.179A>T (p.His60Leu)	GPR17, LIMS2 (H60L +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 2395967	NM_001161417.2(GPR17):c.349G>A (p.Ala117Thr)	GPR17, LIMS2 (A117T +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 2402765	NM_001161417.2(GPR17):c.386G>A (p.Arg129His)	GPR17, LIMS2 (R129H +1 more)	Single nucleotide variant (missense variant +1 more)	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 2300995	NM_001161417.2(GPR17):c.494C>T (p.Pro165Leu)	GPR17, LIMS2 (P165L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212885	NM_001161417.2(GPR17):c.557G>A (p.Arg186Gln)	GPR17, LIMS2 (R214Q +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 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 2327909	NM_001161417.2(GPR17):c.678G>C (p.Glu226Asp)	GPR17, LIMS2 (E254D +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 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 2407639	NM_001161417.2(GPR17):c.757G>A (p.Val253Ile)	GPR17, LIMS2 (V253I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 2265021	NM_001161417.2(GPR17):c.787C>T (p.Arg263Cys)	GPR17, LIMS2 (R263C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207951	NM_001161417.2(GPR17):c.919G>A (p.Ala307Thr)	GPR17, LIMS2 (A307T +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 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 1523745	NM_001161403.3(LIMS2):c.281A>G (p.Asn94Ser)	LIMS2 (N89S +3 more)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2W +1 more	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 2373353	NM_001161403.3(LIMS2):c.257G>A (p.Arg86His)	LIMS2 (R110H +3 more)	Single nucleotide variant (missense variant)	not specified	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 1058817	NM_001161403.3(LIMS2):c.181C>T (p.Arg61Trp)	LIMS2 (R56W +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 854198	NM_001161403.3(LIMS2):c.154G>A (p.Glu52Lys)	LIMS2 (E47K +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	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 941650	NM_001161403.3(LIMS2):c.121T>C (p.Phe41Leu)	LIMS2 (F65L +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2276321	NM_001161403.3(LIMS2):c.114G>T (p.Glu38Asp)	LIMS2 (E38D +3 more)	Single nucleotide variant (missense variant)	not specified	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 639785	NM_001161403.3(LIMS2):c.12-6769C>G	LIMS2 (R20G)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2W +1 more	GUncertain significance
Select item 3118916	NM_001161403.3(LIMS2):c.12-6780G>T	LIMS2 (R16L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 50