25450[HGNC] - ClinVar - NCBI

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	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 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 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 153653	GRCh38/hg38 4q32.3-35.2(chr4:167373716-190036318)x1	LOC129993469, LOC129993470 +455 more	Copy number loss	See cases	GPathogenic
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 154300	GRCh38/hg38 4q32.3-35.2(chr4:168970400-186936738)x1	AADAT, ACSL1 +386 more	Copy number loss	See cases	GPathogenic
Select item 151692	GRCh38/hg38 4q33-35.2(chr4:169873508-190018185)x1	AADAT, ACSL1 +399 more	Copy number loss	See cases	GPathogenic
Select item 149543	GRCh38/hg38 4q33-35.2(chr4:169901205-190095391)x3	SAP30-DT, SCRG1 +401 more	Copy number gain	See cases	GUncertain significance
Select item 155165	GRCh38/hg38 4q33-35.2(chr4:170899124-190036318)x1	LOC126807230, LOC126807231 +383 more	Copy number loss	See cases	GPathogenic
Select item 59507	GRCh38/hg38 4q34.1-35.2(chr4:171507704-189869726)x1	UFSP2, VEGFC +375 more	Copy number loss	See cases	GPathogenic
Select item 58061	GRCh38/hg38 4q34.1-35.2(chr4:172200228-189975519)x3	MIR4455, MIR548T +369 more	Copy number gain	See cases	GPathogenic
Select item 59510	GRCh38/hg38 4q34.1-35.2(chr4:172356988-189975519)x1	ACSL1, ADAM29 +369 more	Copy number loss	See cases	GPathogenic
Select item 155012	GRCh38/hg38 4q34.1-35.2(chr4:172501374-190095332)x1	ACSL1, ADAM29 +372 more	Copy number loss	See cases	GPathogenic
Select item 57133	GRCh38/hg38 4q34.1-35.2(chr4:173599911-188624331)x1	ACSL1, ADAM29 +322 more	Copy number loss	See cases	GPathogenic
Select item 59511	GRCh38/hg38 4q34.1-35.2(chr4:173754675-189343295)x1	ACSL1, ADAM29 +330 more	Copy number loss	See cases	GPathogenic
Select item 146879	GRCh38/hg38 4q34.1-35.2(chr4:173854560-189548183)x1	ACSL1, ADAM29 +330 more	Copy number loss	See cases	GPathogenic
Select item 152991	GRCh38/hg38 4q34.1-35.2(chr4:173989029-189975519)x1	FLJ38576, FRG1 +339 more	Copy number loss	See cases	GPathogenic
Select item 57505	GRCh38/hg38 4q34.2-35.2(chr4:175483683-189975519)x1	ACSL1, AGA +324 more	Copy number loss	See cases	GPathogenic
Select item 155559	GRCh38/hg38 4q34.3-35.2(chr4:176756632-189621964)x1	ACSL1, AGA +293 more	Copy number loss	See cases	GLikely pathogenic
Select item 59532	GRCh38/hg38 4q34.3-35.2(chr4:177442769-190042639)x1	LOC132089100, LOC132089101 +293 more	Copy number loss	See cases	GPathogenic
Select item 148007	GRCh38/hg38 4q34.3-35.2(chr4:177985956-189975519)x1	LOC126807226, LOC126807227 +285 more	Copy number loss	See cases	GPathogenic
Select item 148268	GRCh38/hg38 4q34.3-35.2(chr4:178014570-190095391)x1	ACSL1, ANKRD37 +287 more	Copy number loss	See cases	GPathogenic
Select item 148187	GRCh38/hg38 4q34.3-35.2(chr4:178549472-190095391)x1	ACSL1, ANKRD37 +286 more	Copy number loss	See cases	GPathogenic
Select item 151757	GRCh38/hg38 4q34.3-35.2(chr4:179295511-190036318)x3	LOC132089106, LOC132089107 +282 more	Copy number gain	See cases	GPathogenic
Select item 58062	GRCh38/hg38 4q34.3-35.2(chr4:179946068-189548183)x3	ACSL1, ANKRD37 +267 more	Copy number gain	See cases	GPathogenic
Select item 146393	GRCh38/hg38 4q34.3-35.2(chr4:180451652-190095391)x3	ACSL1, ANKRD37 +275 more	Copy number gain	See cases	GLikely pathogenic
Select item 148270	GRCh38/hg38 4q34.3-35.2(chr4:180574962-190095391)x1	ACSL1, ANKRD37 +275 more	Copy number loss	See cases	GPathogenic
Select item 154943	GRCh38/hg38 4q34.3-35.2(chr4:180717850-190095391)x3	WWC2, WWC2-AS1 +274 more	Copy number gain	See cases	GPathogenic
Select item 161066	GRCh38/hg38 4q34.3-35.1(chr4:181579626-186100199)x1	ACSL1, ANKRD37 +193 more	Copy number loss	See cases	GPathogenic
Select item 33229	GRCh38/hg38 4q34.3-35.1(chr4:181579626-186100199)x1	ACSL1, ANKRD37 +193 more	Copy number loss	See cases	GPathogenic
Select item 154160	GRCh38/hg38 4q34.3-35.1(chr4:181762338-185175891)x1	CFAP97, ACSL1 +148 more	Copy number loss	See cases	GUncertain significance
Select item 144872	GRCh38/hg38 4q35.1-35.2(chr4:182437091-190018185)x1	ACSL1, ANKRD37 +256 more	Copy number loss	See cases	GPathogenic
Select item 153318	GRCh38/hg38 4q35.1-35.2(chr4:182732498-187998523)x4	ACSL1, ANKRD37 +223 more	Copy number gain	See cases	GLikely pathogenic
Select item 58063	GRCh38/hg38 4q35.1(chr4:182990639-186013514)x3	ACSL1, ANKRD37 +165 more	Copy number gain	See cases	GPathogenic
Select item 149694	GRCh38/hg38 4q35.1-35.2(chr4:183072743-190095391)x1	ACSL1, ANKRD37 +241 more	Copy number loss	See cases	GPathogenic
Select item 59536	GRCh38/hg38 4q35.1-35.2(chr4:183354112-190042639)x1	ACSL1, ANKRD37 +228 more	Copy number loss	See cases	GPathogenic
Select item 57066	GRCh38/hg38 4q35.1-35.2(chr4:183528264-188624331)x1	ACSL1, ANKRD37 +197 more	Copy number loss	See cases	GPathogenic
Select item 150939	GRCh38/hg38 4q35.1(chr4:183630250-183939902)x3	LOC126807238, LOC129993439 +3 more	Copy number gain	See cases	GLikely benign
Select item 3171536	NM_020225.3(STOX2):c.22A>G (p.Thr8Ala)	STOX2 (T8A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171541	NM_020225.3(STOX2):c.56C>T (p.Ser19Leu)	STOX2 (S19L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171543	NM_020225.3(STOX2):c.67T>G (p.Ser23Ala)	STOX2 (S23A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336370	NM_020225.3(STOX2):c.142G>C (p.Ala48Pro)	STOX2 (A48P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516427	NM_020225.3(STOX2):c.171T>G (p.Asp57Glu)	STOX2 (D57E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323389	NM_020225.3(STOX2):c.178C>G (p.Pro60Ala)	STOX2 (P60A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3171540	NM_020225.3(STOX2):c.298C>T (p.His100Tyr)	STOX2 (H100Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260045	NM_020225.3(STOX2):c.342A>T (p.Glu114Asp)	STOX2 (E114D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381298	NM_020225.3(STOX2):c.436A>G (p.Ile146Val)	STOX2 (I146V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372606	NM_020225.3(STOX2):c.567G>T (p.Arg189Ser)	STOX2 (R189S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171542	NM_020225.3(STOX2):c.605G>A (p.Cys202Tyr)	STOX2 (C202Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482681	NM_020225.3(STOX2):c.697C>A (p.Gln233Lys)	STOX2 (Q233K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485266	NM_020225.3(STOX2):c.743A>G (p.Tyr248Cys)	STOX2 (Y248C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239322	NM_020225.3(STOX2):c.823T>G (p.Phe275Val)	STOX2 (F275V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302409	NM_020225.3(STOX2):c.836A>G (p.Lys279Arg)	STOX2 (K279R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323390	NM_020225.3(STOX2):c.851C>G (p.Ala284Gly)	STOX2 (A284G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335772	NM_020225.3(STOX2):c.898G>A (p.Glu300Lys)	STOX2 (E300K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353631	NM_020225.3(STOX2):c.962A>G (p.Asp321Gly)	STOX2 (D321G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391465	NM_020225.3(STOX2):c.970G>A (p.Val324Met)	STOX2 (V324M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277758	NM_020225.3(STOX2):c.1006A>C (p.Lys336Gln)	STOX2 (K336Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538370	NM_020225.3(STOX2):c.1031G>A (p.Arg344Lys)	STOX2 (R344K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171529	NM_020225.3(STOX2):c.1062C>A (p.Ser354Arg)	STOX2 (S354R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171530	NM_020225.3(STOX2):c.1205C>T (p.Pro402Leu)	STOX2 (P402L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394028	NM_020225.3(STOX2):c.1229G>A (p.Gly410Asp)	STOX2 (G410D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617029	NM_020225.3(STOX2):c.1257T>G (p.Asp419Glu)	STOX2 (D419E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527974	NM_020225.3(STOX2):c.1270C>G (p.His424Asp)	STOX2 (H424D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171531	NM_020225.3(STOX2):c.1379G>A (p.Arg460Lys)	STOX2 (R460K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171532	NM_020225.3(STOX2):c.1400T>C (p.Val467Ala)	STOX2 (V467A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513282	NM_020225.3(STOX2):c.1510T>G (p.Ser504Ala)	STOX2 (S504A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284206	NM_020225.3(STOX2):c.1574A>T (p.Gln525Leu)	STOX2 (Q525L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394116	NM_020225.3(STOX2):c.1583T>C (p.Ile528Thr)	STOX2 (I528T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323391	NM_020225.3(STOX2):c.1588G>A (p.Asp530Asn)	STOX2 (D530N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604037	NM_020225.3(STOX2):c.1690A>G (p.Lys564Glu)	STOX2 (K564E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510423	NM_020225.3(STOX2):c.1697C>T (p.Pro566Leu)	STOX2 (P566L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216344	NM_020225.3(STOX2):c.1705G>A (p.Ala569Thr)	STOX2 (A569T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496224	NM_020225.3(STOX2):c.1726G>C (p.Gly576Arg)	STOX2 (G576R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323388	NM_020225.3(STOX2):c.1738G>A (p.Glu580Lys)	STOX2 (E580K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323392	NM_020225.3(STOX2):c.1756G>A (p.Gly586Ser)	STOX2 (G586S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288464	NM_020225.3(STOX2):c.1772G>T (p.Cys591Phe)	STOX2 (C591F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171533	NM_020225.3(STOX2):c.2003C>T (p.Ser668Leu)	STOX2 (S668L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526430	NM_020225.3(STOX2):c.2032G>A (p.Gly678Arg)	STOX2 (G678R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364854	NM_020225.3(STOX2):c.2133G>T (p.Leu711Phe)	STOX2 (L711F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171534	NM_020225.3(STOX2):c.2149C>A (p.His717Asn)	STOX2 (H717N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280325	NM_020225.3(STOX2):c.2213G>A (p.Arg738Gln)	STOX2 (R738Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395682	NM_020225.3(STOX2):c.2231C>T (p.Pro744Leu)	STOX2 (P744L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401343	NM_020225.3(STOX2):c.2249C>T (p.Ala750Val)	STOX2 (A750V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2361934	NM_020225.3(STOX2):c.2276G>A (p.Arg759His)	STOX2 (R759H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655206	NM_020225.3(STOX2):c.2325C>T (p.Asn775=)	STOX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2542187	NM_020225.3(STOX2):c.2459A>C (p.Lys820Thr)	STOX2 (K820T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367062	NM_020225.3(STOX2):c.2491G>A (p.Asp831Asn)	STOX2 (D831N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171537	NM_020225.3(STOX2):c.2527C>T (p.Arg843Trp)	STOX2 (R843W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171538	NM_020225.3(STOX2):c.2584C>T (p.Arg862Cys)	STOX2 (R862C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384932	NM_020225.3(STOX2):c.2650G>A (p.Ala884Thr)	STOX2 (A884T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign

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