ClinVar for Gene (Select 2840) - ClinVar

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Links from Gene

Items: 55

	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 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 2684675	GRCh37/hg19 2q14.3(chr2:124806439-128906413)x1	AMMECR1L, BIN1 +15 more	Copy number loss	not provided	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 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 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 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1679114	GRCh37/hg19 2q13-22.3(chr2:112475655-145691999)x3	EPB41L5, ERCC3 +120 more	Copy number gain	2q13q22.3 microduplication syndrome	GPathogenic
Select item 1526896	GRCh37/hg19 2q14.3(chr2:128024782-129332242)	AMMECR1L, ERCC3 +12 more	Copy number gain	not specified	GUncertain significance
Select item 1410231	NC_000002.11:g.(?_127806102)_(128432598_?)del	BIN1, CYP27C1 +7 more	Deletion	Autosomal recessive limb-girdle muscular dystrophy type 2W +1 more	GUncertain significance
Select item 1340017	GRCh37/hg19 2q13-22.3(chr2:111484468-146333604)x3	GPR39, IL1F10 +122 more	Copy number gain	not provided	GPathogenic
Select item 1339988	GRCh37/hg19 2q14.3-22.2(chr2:122699106-143799629)x1	ACMSD, AMER3 +64 more	Copy number loss	not provided	GPathogenic
Select item 1180433	NC_000002.12:g.124348648_129410245del	LOC129934710, LOC129934711 +112 more	Deletion	See cases	Gnot provided
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 1007133	NC_000002.11:g.(?_128396846)_(128432608_?)dup	GPR17, LIMS2	Duplication	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 929341	GRCh37/hg19 2q14.3-21.2(chr2:122952356-133826358)x1	AMER3, AMMECR1L +44 more	Copy number loss	See cases	GLikely pathogenic
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 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 475542	NC_000002.11:g.(?_128396836)_(128432618_?)dup	GPR17, LIMS2	Duplication	Autosomal recessive limb-girdle muscular dystrophy type 2W	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 441676	GRCh37/hg19 2q14.2-22.1(chr2:120571363-141627287)x1	ACMSD, AMER3 +74 more	Copy number loss	See cases	GPathogenic
Select item 221790	GRCh37/hg19 2q14.3(chr2:128368235-128405920)x3	LIMS2, MYO7B +1 more	Copy number gain	Premature ovarian failure	GBenign
Select item 153085	GRCh38/hg38 2q14.1-14.3(chr2:115302067-129071130)x1	AMMECR1L, BIN1 +254 more	Copy number loss	See cases	GPathogenic
Select item 149324	GRCh38/hg38 2q14.3-21.1(chr2:127063206-130527454)x3	AMMECR1L, BIN1 +125 more	Copy number gain	See cases	GUncertain significance
Select item 148393	GRCh38/hg38 2q14.3-21.1(chr2:122847356-129545581)x1	AMMECR1L, BIN1 +116 more	Copy number loss	See cases	GLikely pathogenic
Select item 147544	GRCh38/hg38 2q14.3-22.1(chr2:123445762-140592538)x1	ACMSD, AMER3 +336 more	Copy number loss	See cases	GPathogenic
Select item 146132	GRCh38/hg38 2q14.3(chr2:123169989-128460075)x1	AMMECR1L, BIN1 +100 more	Copy number loss	See cases	GPathogenic
Select item 60186	GRCh38/hg38 2q14.3(chr2:122324343-128371704)x1	LOC115945190, LOC120961783 +101 more	Copy number loss	See cases	GPathogenic
Select item 60185	GRCh38/hg38 2q14.3(chr2:121824798-128870804)x1	AMMECR1L, BIN1 +121 more	Copy number loss	See cases	GPathogenic
Select item 60184	GRCh38/hg38 2q14.1-21.3(chr2:118086324-134964738)x1	ACMSD, AMER3 +391 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 55