13565[HGNC] - ClinVar

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Items: 91

	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 147409	GRCh38/hg38 4q32.1-32.3(chr4:158387928-166845726)x3	ANP32C, APELA +130 more	Copy number gain	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 154254	GRCh38/hg38 4q32.3(chr4:164837643-167576305)x1	APELA, CPE +49 more	Copy number loss	See cases	GUncertain significance
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 769638	NM_001040159.2(SPOCK3):c.1298T>A (p.Ile433Asn)	SPOCK3 (I393N +7 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3169297	NM_001040159.2(SPOCK3):c.1286A>G (p.His429Arg)	SPOCK3 (H334R +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321244	NM_001040159.2(SPOCK3):c.1280A>G (p.Asp427Gly)	SPOCK3 (D332G +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527629	NM_001040159.2(SPOCK3):c.1257A>C (p.Glu419Asp)	SPOCK3 (E326D +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212991	NM_001040159.2(SPOCK3):c.1214T>C (p.Ile405Thr)	SPOCK3 (I288T +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169296	NM_001040159.2(SPOCK3):c.1209C>A (p.Asp403Glu)	SPOCK3 (D286E +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322332	NM_001040159.2(SPOCK3):c.1198G>A (p.Asp400Asn)	SPOCK3 (D352N +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 758169	NM_001040159.2(SPOCK3):c.1152C>T (p.Ser384=)	SPOCK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2621321	NM_001040159.2(SPOCK3):c.1148T>A (p.Ile383Asn)	SPOCK3 (I294N +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531247	NM_001040159.2(SPOCK3):c.1124C>T (p.Ala375Val)	SPOCK3 (A286V +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169295	NM_001040159.2(SPOCK3):c.1096G>A (p.Val366Ile)	SPOCK3 (V366I +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169294	NM_001040159.2(SPOCK3):c.1049A>G (p.His350Arg)	SPOCK3 (H233R +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591951	NM_001040159.2(SPOCK3):c.971G>A (p.Arg324Gln)	SPOCK3 (R229Q +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514140	NM_001040159.2(SPOCK3):c.933C>A (p.Asp311Glu)	SPOCK3 (D314E +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322333	NM_001040159.2(SPOCK3):c.845C>A (p.Thr282Asn)	SPOCK3 (T187N +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169302	NM_001040159.2(SPOCK3):c.782A>G (p.Tyr261Cys)	SPOCK3 (Y172C +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169301	NM_001040159.2(SPOCK3):c.647C>A (p.Ala216Asp)	SPOCK3 (A121D +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386801	NM_001040159.2(SPOCK3):c.638G>C (p.Trp213Ser)	SPOCK3 (W120S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169300	NM_001040159.2(SPOCK3):c.632G>A (p.Arg211Gln)	SPOCK3 (R116Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305164	NM_001040159.2(SPOCK3):c.394A>G (p.Ile132Val)	SPOCK3 (I43V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284588	NM_001040159.2(SPOCK3):c.334C>T (p.Arg112Trp)	SPOCK3 (R112W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 769639	NM_001040159.2(SPOCK3):c.325A>G (p.Ile109Val)	SPOCK3 (I112V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2258018	NM_001040159.2(SPOCK3):c.299C>T (p.Ala100Val)	SPOCK3 (A103V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 778163	NM_001040159.2(SPOCK3):c.291A>G (p.Val97=)	SPOCK3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3322330	NM_001040159.2(SPOCK3):c.281G>A (p.Arg94His)	SPOCK3 (R97H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404767	NM_001040159.2(SPOCK3):c.209G>T (p.Trp70Leu)	SPOCK3 (W73L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3169299	NM_001040159.2(SPOCK3):c.203G>A (p.Arg68His)	SPOCK3 (R20H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3169298	NM_001040159.2(SPOCK3):c.160G>A (p.Glu54Lys)	SPOCK3 (E54K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3169304	NM_001040159.2(SPOCK3):c.88G>A (p.Gly30Arg)	SPOCK3 (G30R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322331	NM_001040159.2(SPOCK3):c.62C>T (p.Ala21Val)	SPOCK3 (A21V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275102	NM_001040159.2(SPOCK3):c.26G>A (p.Cys9Tyr)	SPOCK3 (C9Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169305	NM_001040159.2(SPOCK3):c.9G>T (p.Lys3Asn)	SPOCK3 (K3N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169303	NM_001040159.2(SPOCK3):c.7A>G (p.Lys3Glu)	SPOCK3 (K3E)	Single nucleotide variant (missense variant +1 more)	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 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	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 2685986	GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3	SPOCK3, SPRY1 +153 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 1808805	GRCh37/hg19 4q32.3(chr4:167428990-167860888)x3	SPOCK3	Copy number gain	not provided	GUncertain significance
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 1711165	GRCh37/hg19 4q32.3(chr4:166940253-167778165)x3	SPOCK3, TLL1	Copy number gain	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 1341239	GRCh37/hg19 4q32.3(chr4:168034701-168115705)x1	SPOCK3	Copy number loss	not provided	GUncertain significance
Select item 1340412	GRCh37/hg19 4q32.3(chr4:166474584-167663163)x1	SPOCK3, TLL1	Copy number loss	not provided	GUncertain significance
Select item 1180544	GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3	ETFDH, FAM218A +108 more	Copy number gain	not provided	GPathogenic
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 980707	GRCh37/hg19 4q32.3(chr4:167817512-168996168)x1	SPOCK3	Copy number loss	not provided	GUncertain significance
Select item 814626	GRCh37/hg19 4q32.3(chr4:167490481-167693089)x3	SPOCK3	Copy number gain	not provided	GUncertain significance
Select item 814624	GRCh37/hg19 4q32.3(chr4:166967503-167656201)x3	SPOCK3, TLL1	Copy number gain	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 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 443420	GRCh37/hg19 4q32.3(chr4:167634638-168841223)x3	SPOCK3	Copy number gain	See cases	GLikely benign
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: 91