9293[Gene ID] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 155225	GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1	LOC129388624, LOC129388625 +407 more	Copy number loss	See cases	GPathogenic
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
Select item 60045	GRCh38/hg38 1q24.1-25.1(chr1:166762832-175327423)x1	ADCY10, ANKRD45 +332 more	Copy number loss	See cases	GPathogenic
Select item 60046	GRCh38/hg38 1q24.2-25.1(chr1:168314822-175299299)x1	ANKRD45, ATP1B1 +232 more	Copy number loss	See cases	GPathogenic
Select item 148038	GRCh38/hg38 1q24.2-25.2(chr1:169218236-178075834)x1	ANKRD45, ASTN1 +239 more	Copy number loss	See cases	GPathogenic
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	MYOC, MYOCOS +540 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	LOC129932082, LOC129932083 +561 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ABL2, ACBD6 +513 more	Copy number gain	See cases	GPathogenic
Select item 1321897	NC_000001.11:g.172987296_174843232del	KLHL20, LOC129388638 +84 more	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 1321886	NC_000001.11:g.173501975_175305010del	ANKRD45, CENPL +79 more	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 1321890	NC_000001.11:g.173686375_176083118del	ANKRD45, CACYBP +88 more	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 1321908	NC_000001.11:g.173848142_174816147del	DARS2, GAS5 +43 more	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 2280807	NM_005684.5(GPR52):c.13A>G (p.Arg5Gly)	GPR52, RABGAP1L (R5G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282412	NM_005684.5(GPR52):c.14G>A (p.Arg5Lys)	GPR52, RABGAP1L (R5K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531582	NM_005684.5(GPR52):c.82C>T (p.Pro28Ser)	GPR52, RABGAP1L (P28S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282411	NM_005684.5(GPR52):c.233A>G (p.Tyr78Cys)	GPR52, RABGAP1L (Y78C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101789	NM_005684.5(GPR52):c.250G>C (p.Ala84Pro)	GPR52, RABGAP1L (A84P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524913	NM_005684.5(GPR52):c.314C>T (p.Ser105Phe)	GPR52, RABGAP1L (S105F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101790	NM_005684.5(GPR52):c.368T>C (p.Val123Ala)	GPR52, RABGAP1L (V123A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266002	NM_005684.5(GPR52):c.416G>A (p.Arg139His)	GPR52, RABGAP1L (R139H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610312	NM_005684.5(GPR52):c.474G>C (p.Leu158Phe)	RABGAP1L, GPR52 (L158F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101791	NM_005684.5(GPR52):c.509G>C (p.Cys170Ser)	GPR52, RABGAP1L (C170S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549221	NM_005684.5(GPR52):c.701C>T (p.Thr234Ile)	GPR52, RABGAP1L (T234I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101792	NM_005684.5(GPR52):c.773G>A (p.Ser258Asn)	GPR52, RABGAP1L (S258N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249704	NM_005684.5(GPR52):c.773G>T (p.Ser258Ile)	GPR52, RABGAP1L (S258I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228594	NM_005684.5(GPR52):c.781C>T (p.Arg261Cys)	GPR52, RABGAP1L (R261C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282413	NM_005684.5(GPR52):c.890C>G (p.Thr297Ser)	GPR52, RABGAP1L (T297S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101788	NM_005684.5(GPR52):c.1001C>A (p.Thr334Lys)	GPR52, RABGAP1L (T334K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 785846	NM_005684.5(GPR52):c.1063C>T (p.Arg355Trp)	GPR52, RABGAP1L (R355W)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 3062777	GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3	ABL2, ACBD6 +52 more	Copy number gain	not specified	GPathogenic
Select item 2685754	GRCh37/hg19 1q23.3-25.1(chr1:164571371-175708060)x1	ADCY10, ALDH9A1 +81 more	Copy number loss	not provided	GPathogenic
Select item 1527415	GRCh37/hg19 1q25.1(chr1:173750496-174538509)	DARS2, GAS5 +7 more	Copy number gain	not specified	GUncertain significance
Select item 1527404	GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)	BRINP2, BRINP3 +101 more	Copy number loss	not specified	GPathogenic
Select item 1527393	GRCh37/hg19 1q24.3-25.1(chr1:171881608-175899893)	ANKRD45, C1orf105 +26 more	Copy number loss	not specified	GPathogenic
Select item 1527381	GRCh37/hg19 1q24.2-25.3(chr1:169873155-181823980)	METTL13, MIR199A2 +68 more	Copy number loss	not specified	GPathogenic
Select item 1341003	GRCh37/hg19 1q25.1(chr1:174330817-174607307)x1	GPR52, RABGAP1L	Copy number loss	not provided	GLikely benign
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 979311	GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3	ABL2, ACBD6 +52 more	Copy number gain	not provided	GPathogenic
Select item 979310	GRCh37/hg19 1q25.1-25.2(chr1:174410914-178743636)x1	CACYBP, TEX35 +13 more	Copy number loss	not provided	GUncertain significance
Select item 814137	GRCh37/hg19 1q24.2-25.1(chr1:167430471-174635618)x1	METTL13, METTL18 +60 more	Copy number loss	not provided	GPathogenic
Select item 687532	GRCh37/hg19 1q25.1(chr1:174353465-174689925)x1	GPR52, RABGAP1L	Copy number loss	not provided	GUncertain significance
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	GPathogenic
Select item 625613	GRCh37/hg19 1q24.2-25.3(chr1:169423492-180367623)	ABL2, ACBD6 +70 more	Copy number gain	not provided	GPathogenic
Select item 599187	NC_000001.10:g.172652343_183538289del10885947	ANKRD45, ASTN1 +61 more	Deletion	1q24q25 microdeletion syndrome	GPathogenic
Select item 558766	Single allele	ANKRD45, ATP1B1 +51 more	Deletion	1q24q25 microdeletion syndrome	GPathogenic
Select item 443359	GRCh37/hg19 1q25.1-25.3(chr1:173138799-185129406)x3	ABL2, ACBD6 +71 more	Copy number gain	See cases	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	SUCO, TADA1 +147 more	Copy number loss	See cases	GPathogenic
Select item 253471	GRCh37/hg19 1q24.3-25.3(chr1:172742952-181814496)x1	ABL2, ACBD6 +46 more	Copy number loss	See cases	GPathogenic

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Items: 53