Related gene-specific medical variations for Gene (Select 2840) - ClinVar

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

Links from Gene

Items: 26

	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 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 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 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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 26