Related gene-specific medical variations for Gene (Select 55679) - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 1029142	NM_001161403.3(LIMS2):c.359+2701C>T	GPR17, LIMS2 (E330K +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 785853	NM_001161417.2(GPR17):c.534G>A (p.Thr178=)	GPR17, LIMS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 785852	NM_001161417.2(GPR17):c.80C>T (p.Thr27Met)	GPR17, LIMS2 (T27M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 760445	NM_001161417.2(GPR17):c.441C>T (p.Tyr147=)	GPR17, LIMS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 260988	NM_001161403.3(LIMS2):c.509+9G>A	LIMS2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 242438	NM_001161403.3(LIMS2):c.276C>G (p.Asn92Lys)	LIMS2 (N114K +3 more)	Single nucleotide variant (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant

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Links from Gene

Items: 45