11199[Gene ID] - ClinVar

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Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58042	GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3	AADAT, ABCE1 +1310 more	Copy number gain	See cases	GPathogenic
Select item 58043	GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3	AADAT, ABCE1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 149581	GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3	QKILA, RAB33B +1102 more	Copy number gain	See cases	GPathogenic
Select item 148653	GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3	LOC129993091, LOC129993092 +1068 more	Copy number gain	See cases	GPathogenic
Select item 155492	GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3	LOC132090717, LOC132090718 +1051 more	Copy number gain	See cases	GPathogenic
Select item 147647	GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3	LOC129993335, LOC129993336 +1026 more	Copy number gain	See cases	GPathogenic
Select item 146581	GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3	AADAT, ABCE1 +903 more	Copy number gain	See cases	GPathogenic
Select item 58045	GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3	LOC123493228, LOC123493229 +481 more	Copy number gain	See cases	GPathogenic
Select item 153493	GRCh38/hg38 4q32.1-33(chr4:155162982-170959553)x1	AADAT, ANP32C +243 more	Copy number loss	See cases	GPathogenic
Select item 152441	GRCh38/hg38 4q32.1-35.2(chr4:160757699-190091407)x3	AADAT, ACSL1 +553 more	Copy number gain	See cases	GPathogenic
Select item 57053	GRCh38/hg38 4q32.2-35.2(chr4:162013220-189975519)x3	MTNR1A, NAF1 +535 more	Copy number gain	See cases	GPathogenic
Select item 59484	GRCh38/hg38 4q32.2-34.1(chr4:162723818-172501433)x1	AADAT, ANP32C +158 more	Copy number loss	See cases	GPathogenic
Select item 59505	GRCh38/hg38 4q32.3-35.2(chr4:164039530-189982708)x1	LOC129993482, LOC129993483 +509 more	Copy number loss	See cases	GPathogenic
Select item 151716	GRCh38/hg38 4q32.3-35.2(chr4:165281036-190018185)x1	LOC129993424, LOC129993425 +485 more	Copy number loss	See cases	GPathogenic
Select item 148458	GRCh38/hg38 4q32.3-35.2(chr4:166317587-190095391)x1	MIR4455, MIR548T +466 more	Copy number loss	See cases	GPathogenic
Select item 153168	GRCh38/hg38 4q32.3-34.3(chr4:166630207-179820960)	AADAT, ADAM29 +178 more	Copy number loss	See cases	GPathogenic
Select item 153653	GRCh38/hg38 4q32.3-35.2(chr4:167373716-190036318)x1	LOC129993469, LOC129993470 +455 more	Copy number loss	See cases	GPathogenic
Select item 155164	GRCh38/hg38 4q32.3-33(chr4:167469096-170889588)x3	AADAT, ANXA10 +69 more	Copy number gain	See cases	GUncertain significance
Select item 155264	GRCh38/hg38 4q32.3-35.2(chr4:168119317-190095391)x3	LOC129993480, LOC129993481 +451 more	Copy number gain	See cases	GPathogenic
Select item 2284370	NM_007193.5(ANXA10):c.63G>T (p.Met21Ile)	ANXA10 (M21I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299479	NM_007193.5(ANXA10):c.99T>G (p.Phe33Leu)	ANXA10 (F33L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358012	NM_007193.5(ANXA10):c.140G>A (p.Arg47His)	ANXA10 (R47H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127259	NM_007193.5(ANXA10):c.185T>C (p.Met62Thr)	ANXA10 (M62T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356858	NM_007193.5(ANXA10):c.193C>T (p.Arg65Trp)	ANXA10 (R65W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261939	NM_007193.5(ANXA10):c.194G>A (p.Arg65Gln)	ANXA10 (R65Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 155558	GRCh38/hg38 4q32.3-33(chr4:168140014-170186711)x3	AADAT, ANXA10 +58 more	Copy number gain	See cases	GLikely pathogenic
Select item 3127260	NM_007193.5(ANXA10):c.215G>A (p.Arg72Lys)	ANXA10 (R72K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3299454	NM_007193.5(ANXA10):c.227C>T (p.Ser76Leu)	ANXA10 (S76L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485978	NM_007193.5(ANXA10):c.261G>A (p.Met87Ile)	ANXA10 (M87I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303237	NM_007193.5(ANXA10):c.388G>A (p.Ala130Thr)	ANXA10 (A130T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462987	NM_007193.5(ANXA10):c.404A>G (p.Tyr135Cys)	ANXA10 (Y135C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318273	NM_007193.5(ANXA10):c.512C>T (p.Ala171Val)	ANXA10 (A171V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215553	NM_007193.5(ANXA10):c.575A>C (p.Lys192Thr)	ANXA10 (K192T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790558	NM_007193.5(ANXA10):c.583C>G (p.Leu195Val)	ANXA10 (L195V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3299473	NM_007193.5(ANXA10):c.622C>T (p.Arg208Trp)	ANXA10 (R208W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2369632	NM_007193.5(ANXA10):c.623G>A (p.Arg208Gln)	ANXA10 (R208Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623139	NM_007193.5(ANXA10):c.671A>T (p.Asp224Val)	ANXA10 (D224V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299463	NM_007193.5(ANXA10):c.674C>A (p.Ala225Asp)	ANXA10 (A225D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717844	NM_007193.5(ANXA10):c.722T>C (p.Ile241Thr)	ANXA10 (I241T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3127261	NM_007193.5(ANXA10):c.776C>T (p.Ala259Val)	ANXA10 (A259V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127262	NM_007193.5(ANXA10):c.871G>C (p.Glu291Gln)	ANXA10 (E291Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127263	NM_007193.5(ANXA10):c.875G>T (p.Arg292Leu)	ANXA10 (R292L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299490	NM_007193.5(ANXA10):c.887C>T (p.Ser296Phe)	ANXA10 (S296F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127264	NM_007193.5(ANXA10):c.890T>A (p.Leu297Gln)	ANXA10 (L297Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617722	NM_007193.5(ANXA10):c.890T>C (p.Leu297Pro)	ANXA10 (L297P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314894	NM_007193.5(ANXA10):c.944C>G (p.Ala315Gly)	ANXA10 (A315G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAT1, FAT4 +197 more	Copy number gain	not specified	GPathogenic
Select item 3062803	GRCh37/hg19 4q32.1-35.2(chr4:161589441-190957473)x1	AADAT, ACSL1 +85 more	Copy number loss	not specified	GPathogenic
Select item 3062774	GRCh37/hg19 4q32.3(chr4:169050575-169393595)x1	ANXA10, DDX60 +1 more	Copy number loss	not specified	GUncertain significance
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3024634	GRCh37/hg19 4q32.3-35.2(chr4:169060637-191154276)x1	ENPP6, F11 +68 more	Copy number loss	not provided	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 2684399	GRCh37/hg19 4q32.3-35.2(chr4:167409608-190957473)x3	AADAT, ACSL1 +69 more	Copy number gain	not provided	GPathogenic
Select item 1711166	GRCh37/hg19 4q32.3-35.2(chr4:167779888-190957473)x1	AADAT, ACSL1 +69 more	Copy number loss	See cases	GPathogenic
Select item 1711100	GRCh37/hg19 4q32.1-35.2(chr4:159174483-190957473)x1	CYP4V2, HAND2 +93 more	Copy number loss	See cases	GPathogenic
Select item 1527133	GRCh37/hg19 4q32.1-35.2(chr4:159755174-190225765)	AADAT, ACSL1 +86 more	Copy number gain	not specified	GPathogenic
Select item 1340780	GRCh37/hg19 4q32.3(chr4:168637066-169026710)x3	ANXA10	Copy number gain	not provided	GLikely benign
Select item 1340377	GRCh37/hg19 4q32.3(chr4:168490955-169280301)x3	ANXA10, DDX60 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1047894	GRCh37/hg19 4q32.1-34.1(chr4:157771352-172496278)	AADAT, ANP32C +39 more	Copy number loss	Autism with high cognitive abilities	GPathogenic
Select item 983279	GRCh37/hg19 4q32.3-35.1(chr4:169108358-184425536)x1	AADAT, ADAM29 +35 more	Copy number loss	See cases	GPathogenic
Select item 814628	GRCh37/hg19 4q32.3(chr4:169061120-169154822)x1	DDX60, ANXA10	Copy number loss	not provided	GUncertain significance
Select item 814627	GRCh37/hg19 4q32.3(chr4:168430007-169444017)x1	DDX60L, DDX60 +2 more	Copy number loss	not provided	GUncertain significance
Select item 814622	GRCh37/hg19 4q32.3-35.2(chr4:165010461-190957473)x1	SCRG1, SH3RF1 +79 more	Copy number loss	not provided	GPathogenic
Select item 688995	GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3	AADAT, ABCE1 +163 more	Copy number gain	not provided	GPathogenic
Select item 688407	GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3	AADAT, ACSL1 +131 more	Copy number gain	not provided	GPathogenic
Select item 685957	GRCh37/hg19 4q32.3(chr4:169058630-169154822)x1	ANXA10, DDX60	Copy number loss	not provided	GUncertain significance
Select item 685559	GRCh37/hg19 4q32.3-34.2(chr4:165069355-177189728)x3	CPE, DDX60 +36 more	Copy number gain	not provided	GPathogenic
Select item 685014	GRCh37/hg19 4q32.3-35.2(chr4:166623890-190957473)x1	AADAT, ACSL1 +70 more	Copy number loss	not provided	GPathogenic
Select item 562989	GRCh37/hg19 4q32.1-35.2(chr4:159492464-190957473)x3	AADAT, ACSL1 +92 more	Copy number gain	not provided	GPathogenic
Select item 562986	GRCh37/hg19 4q32.1-35.1(chr4:157552397-183831253)x3	AADAT, ADAM29 +60 more	Copy number gain	not provided	GPathogenic
Select item 560098	Single allele	CBR4, CLCN3 +23 more	Deletion	not provided	GLikely pathogenic
Select item 443800	GRCh37/hg19 4q32.1-35.2(chr4:156465633-190957473)x3	AADAT, ACSL1 +102 more	Copy number gain	See cases	GPathogenic
Select item 443483	GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3	AADAT, ABCE1 +314 more	Copy number gain	See cases	GPathogenic
Select item 443385	GRCh37/hg19 4q32.3-35.2(chr4:166436844-190957473)x3	AADAT, ACSL1 +70 more	Copy number gain	See cases	GPathogenic
Select item 442798	GRCh37/hg19 4q32.3(chr4:166319229-169280338)x1	ANXA10, CPE +4 more	Copy number loss	See cases	GUncertain significance
Select item 442514	GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3	CFAP97, CFI +255 more	Copy number gain	See cases	GPathogenic
Select item 441736	GRCh37/hg19 4q32.2-34.3(chr4:162205710-182329883)x1	AADAT, ADAM29 +46 more	Copy number loss	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441562	GRCh37/hg19 4q31.3-35.2(chr4:153890440-190957473)x3	AADAT, ACSL1 +118 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +744 more	Copy number gain	See cases	GPathogenic
Select item 253675	GRCh37/hg19 4q32.2-34.2(chr4:162344510-177103037)x1	AADAT, ADAM29 +40 more	Copy number loss	See cases	GPathogenic
Select item 253606	GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3	SCOC, SCRG1 +218 more	Copy number gain	See cases	GPathogenic
Select item 253590	GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3	AADAT, ABCE1 +142 more	Copy number gain	See cases	GPathogenic

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Items: 84