ClinVar for Gene (Select 1193) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235933	GRCh38/hg38 Xq28(chrX:154895862-155336084)	BRCC3, CLIC2 +34 more	Copy number gain	Chromosome Xq28 duplication syndrome	GPathogenic
Select item 3148884	GRCh37/hg19 Xq25-28(chrX:125253445-155233098)x1	PRR32, ABCD1 +215 more	Copy number loss	See cases	GPathogenic
Select item 3148864	GRCh37/hg19 Xq25-28(chrX:121656905-155233098)x1	SLITRK2, SLITRK4 +221 more	Copy number loss	not provided	GPathogenic
Select item 3145756	NM_001289.6(CLIC2):c.75G>C (p.Glu25Asp)	CLIC2 (E25D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145755	NM_001289.6(CLIC2):c.455C>A (p.Thr152Asn)	CLIC2 (T152N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067786	NM_001289.6(CLIC2):c.351T>C (p.Phe117=)	CLIC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3064497	NM_001289.6(CLIC2):c.171G>C (p.Lys57Asn)	CLIC2 (K57N)	Single nucleotide variant (missense variant)	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	GUncertain significance
Select item 3062537	GRCh37/hg19 Xq28(chrX:154260005-154739500)	BRCC3, CLIC2 +10 more	Copy number gain	not specified	GPathogenic
Select item 3062491	GRCh37/hg19 Xq24-28(chrX:119395676-154930047)	TAFAZZIN, TENM1 +241 more	Copy number loss	not specified	GPathogenic
Select item 3062473	GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	ABCD1, ACSL4 +321 more	Copy number loss	not specified	GPathogenic
Select item 3050665	NM_001289.6(CLIC2):c.58-6T>G	CLIC2	Single nucleotide variant (intron variant)	CLIC2-related disorder	GBenign
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	TMEM31, TMEM35A +488 more	Copy number gain	not provided	GPathogenic
Select item 2685774	GRCh37/hg19 Xq28(chrX:152916854-154775938)x2	GDI1, H2AB1 +58 more	Copy number gain	not provided	GPathogenic
Select item 2685724	GRCh37/hg19 Xq28(chrX:148598351-154943978)x1	ABCD1, ARHGAP4 +110 more	Copy number loss	not provided	GPathogenic
Select item 2685718	GRCh37/hg19 Xq24-28(chrX:119071609-155233731)x1	ABCD1, ACTRT1 +246 more	Copy number loss	not provided	GPathogenic
Select item 2685717	GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1	ABCD1, ACTRT1 +258 more	Copy number loss	not provided	GPathogenic
Select item 2664617	NM_001289.6(CLIC2):c.680A>G (p.His227Arg)	CLIC2 (H227R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2661878	NM_001289.6(CLIC2):c.251T>A (p.Ile84Asn)	CLIC2 (I84N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2661877	NM_001289.6(CLIC2):c.641G>A (p.Arg214His)	CLIC2 (R214H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2637799	NM_001289.6(CLIC2):c.168-17A>T	CLIC2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2623060	NM_001289.6(CLIC2):c.14G>A (p.Arg5Gln)	CLIC2 (R5Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2583089	GRCh37/hg19 Xq28(chrX:154124352-154563736)x2	BRCC3, CLIC2 +6 more	Copy number gain	not provided	GPathogenic
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2497748	GRCh37/hg19 Xq27.1-28(chrX:139586015-154774957)	ABCD1, AFF2 +140 more	Copy number gain	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 2427468	NC_000023.10:g.(?_154490088)_(154563736_?)dup	CLIC2, RAB39B	Duplication	not provided	GUncertain significance
Select item 2423563	NC_000023.10:g.(?_152014869)_(154563736_?)del	ABCD1, ARHGAP4 +68 more	Deletion	Dyskeratosis congenita	GUncertain significance
Select item 2422162	NC_000023.10:g.(?_153001546)_(154563736_?)dup	FAM3A, CMC4 +50 more	Duplication	Adrenoleukodystrophy	GUncertain significance
Select item 2422157	NC_000023.10:g.(?_152014869)_(155171615_?)del	ABCD1, ARHGAP4 +73 more	Deletion	Creatine transporter deficiency +8 more	GPathogenic
Select item 2308065	NM_001289.6(CLIC2):c.508A>G (p.Arg170Gly)	CLIC2 (R170G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808722	GRCh37/hg19 Xq25-28(chrX:124749464-155233731)x1	ABCD1, ACTRT1 +216 more	Copy number loss	not provided	GPathogenic
Select item 1808711	GRCh37/hg19 Xq28(chrX:154120621-154565718)x1	BRCC3, CLIC2 +6 more	Copy number loss	not provided	GPathogenic
Select item 1808693	GRCh37/hg19 Xq28(chrX:154112020-154617577)x3	F8A1, BRCC3 +10 more	Copy number gain	not provided	GPathogenic
Select item 1808688	GRCh37/hg19 Xq28(chrX:154502832-154633634)x4	CLIC2, F8A2 +1 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808575	GRCh37/hg19 Xq28(chrX:154110981-154565718)x2	BRCC3, CLIC2 +8 more	Copy number gain	not provided	GPathogenic
Select item 1808092	GRCh37/hg19 Xq28(chrX:154497048-154553189)x0	CLIC2	Copy number loss	not provided	GUncertain significance
Select item 1807675	GRCh37/hg19 Xq28(chrX:153613883-155233731)x2	ATP6AP1, BRCC3 +33 more	Copy number gain	not provided	GPathogenic
Select item 1710916	GRCh37/hg19 Xq27.3-28(chrX:142401540-155233731)x1	ABCD1, BCAP31 +129 more	Copy number loss	See cases	GPathogenic
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	MIR224, MIR424 +793 more	Copy number loss	See cases	GPathogenic
Select item 1706520	GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1	NXF5, NXT2 +414 more	Copy number loss	See cases	GPathogenic
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	CT55, CT83 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703584	GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731)	H2AB3, H2BW1 +502 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +822 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	SCML2, SEPTIN6 +822 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1703536	GRCh37/hg19 Xq28(chrX:152372767-155233731)	CLIC2, CMC4 +68 more	Copy number gain	Chromosome Xq28 duplication syndrome +1 more	GPathogenic
Select item 1698466	NM_001289.6(CLIC2):c.454A>G (p.Thr152Ala)	CLIC2 (T152A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1695898	GRCh37/hg19 Xq28(chrX:153529891-155114697)x3	SMIM9, TAFAZZIN +36 more	Copy number gain	not provided	Gnot provided
Select item 1695329	NM_001289.6(CLIC2):c.706G>A (p.Glu236Lys)	CLIC2 (E236K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1690356	NM_001289.6(CLIC2):c.360T>G (p.Phe120Leu)	CLIC2 (F120L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1684654	Single allele	IDH3G, PDZD4 +200 more	Deletion	Immunodeficiency 33 +5 more	GPathogenic
Select item 1678464	NM_001289.6(CLIC2):c.582+6T>C	CLIC2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1676495	NM_001289.6(CLIC2):c.574A>G (p.Ile192Val)	CLIC2 (I192V)	Single nucleotide variant	not provided	GUncertain significance
Select item 1675174	NM_001289.6(CLIC2):c.19G>A (p.Gly7Ser)	CLIC2 (G7S)	Single nucleotide variant (missense variant)	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1342389	NC_000023.11:g.(154612552_154656872)_(156005236_156038495)del	BRCC3, CLIC2 +64 more	Deletion	not provided	GPathogenic
Select item 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	CXorf51B, GAGE12H +821 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	ABCB7, ABCD1 +821 more	Copy number gain	not provided	GPathogenic
Select item 1340345	GRCh37/hg19 Xq28(chrX:154120629-154565718)x0	BRCC3, CLIC2 +6 more	Copy number loss	not provided	GPathogenic
Select item 1340161	GRCh37/hg19 Xq28(chrX:154543235-154739500)x2	CLIC2, F8A2 +4 more	Copy number gain	not provided	GLikely benign
Select item 1339850	GRCh37/hg19 Xq28(chrX:154124170-154528181)x3	BRCC3, CLIC2 +6 more	Copy number gain	Chromosome Xq28 duplication syndrome	Gnot provided
Select item 1334434	NM_001289.6(CLIC2):c.392C>A (p.Ala131Glu)	CLIC2 (A131E)	Single nucleotide variant (missense variant)	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	GUncertain significance
Select item 1321269	NM_001289.6(CLIC2):c.434G>A (p.Arg145His)	CLIC2 (R145H)	Single nucleotide variant (missense variant)	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	GLikely benign
Select item 1271034	NM_001289.6(CLIC2):c.400+297=	CLIC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	CXorf49B, CXorf51A +821 more	Copy number loss	not provided	GPathogenic
Select item 1029305	NM_001289.6(CLIC2):c.103C>T (p.Arg35Cys)	CLIC2 (R35C)	Single nucleotide variant (missense variant)	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	GUncertain significance
Select item 1013587	GRCh37/hg19 Xq28(chrX:153263517-155260560)x2	H2AB3, IKBKG +43 more	Copy number gain	Intellectual disability	GPathogenic
Select item 992648	GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3	ABCB7, ABCD1 +510 more	Copy number gain	not provided	GPathogenic
Select item 983156	GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3	ABCB7, ABCD1 +514 more	Copy number gain	See cases	GPathogenic
Select item 980881	GRCh37/hg19 Xq28(chrX:154078238-154563469)x3	BRCC3, CLIC2 +8 more	Copy number gain	not provided	GPathogenic
Select item 979836	GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1	ABCD1, ACSL4 +387 more	Copy number loss	not provided	GPathogenic
Select item 929354	GRCh37/hg19 Xq28(chrX:154051891-155236747)x3	BRCC3, CLIC2 +14 more	Copy number gain	See cases	GPathogenic
Select item 929335	GRCh37/hg19 Xq28(chrX:154130223-154563104)x3	BRCC3, CLIC2 +6 more	Copy number gain	See cases	GPathogenic
Select item 916135	GRCh37/hg19 Xq25-28(chrX:122132166-155097214)	APLN, ABCD1 +221 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 816418	GRCh37/hg19 Xq28(chrX:154418280-154565718)x3	RAB39B, CLIC2 +1 more	Copy number gain	not provided	GLikely pathogenic
Select item 816416	GRCh37/hg19 Xq28(chrX:154120620-154617577)x3	H2AB2, FUNDC2 +8 more	Copy number gain	not provided	GPathogenic
Select item 816415	GRCh37/hg19 Xq28(chrX:154112019-154625699)x2	F8A1, MTCP1 +10 more	Copy number gain	not provided	GPathogenic
Select item 816368	GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1	ABCD1, ACSL4 +398 more	Copy number loss	not provided	GPathogenic
Select item 816364	GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1	ABCD1, ACSL4 +410 more	Copy number loss	not provided	GPathogenic
Select item 807878	NM_001289.6(CLIC2):c.62G>T (p.Gly21Val)	CLIC2 (G21V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 688406	GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1	ABCD1, ACTRT1 +220 more	Copy number loss	not provided	GPathogenic
Select item 688137	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	RBMXL3, RENBP +821 more	Copy number loss	not provided	GPathogenic
Select item 687829	GRCh37/hg19 Xq28(chrX:154542523-154742482)x1	CLIC2, F8A2 +4 more	Copy number loss	not provided	GUncertain significance
Select item 687523	GRCh37/hg19 Xq28(chrX:154306330-154680053)x2	BRCC3, CLIC2 +4 more	Copy number gain	not provided	GPathogenic
Select item 687519	GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1	RBMX2, RBMXL3 +525 more	Copy number loss	not provided	GUncertain significance
Select item 687322	GRCh37/hg19 Xq28(chrX:154553185-154736257)x2	CLIC2, F8A2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 687132	GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1	ABCD1, ACTRT1 +262 more	Copy number loss	not provided	GPathogenic
Select item 687057	GRCh37/hg19 Xq28(chrX:154117563-154633634)x3	BRCC3, CLIC2 +8 more	Copy number gain	not provided	GPathogenic
Select item 686250	GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1	ABCD1, ACSL4 +320 more	Copy number loss	not provided	GPathogenic
Select item 685566	GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1	AMOT, APLN +503 more	Copy number loss	not provided	GPathogenic
Select item 685331	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	ZNF275, ZNF280C +821 more	Copy number gain	not provided	GPathogenic
Select item 684993	GRCh37/hg19 Xq28(chrX:154117563-154617602)x2	BRCC3, CLIC2 +8 more	Copy number gain	not provided	GPathogenic
Select item 684964	GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1	AIFM1, CXorf51A +389 more	Copy number loss	not provided	GPathogenic
Select item 625854	GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1	ABCD1, ACTRT1 +221 more	Copy number loss	Premature ovarian insufficiency	GLikely pathogenic
Select item 625803	GRCh37/hg19 Xq28(chrX:153761240-155227607)	BRCC3, CLIC2 +22 more	Copy number loss	not provided	GLikely pathogenic
Select item 625671	GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945)	ABCD1, ADGRG4 +160 more	Copy number gain	not provided	GPathogenic
Select item 598638	NM_001289.6(CLIC2):c.516A>G (p.Leu172=)	CLIC2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 564944	GRCh37/hg19 Xq28(chrX:154120640-154565718)x1	BRCC3, CLIC2 +6 more	Copy number loss	not provided	GPathogenic
Select item 564943	GRCh37/hg19 Xq28(chrX:154120620-154568774)x2	F8, VBP1 +6 more	Copy number gain	not provided	GPathogenic
Select item 564941	GRCh37/hg19 Xq28(chrX:153749360-155233731)x3	DKC1, F8A2 +22 more	Copy number gain	not provided	GPathogenic
Select item 564913	GRCh37/hg19 Xq27.2-28(chrX:140388077-155233731)x3	ABCD1, AFF2 +136 more	Copy number gain	not provided	GPathogenic
Select item 564912	GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1	ABCD1, AFF2 +141 more	Copy number loss	not provided	GPathogenic
Select item 564908	GRCh37/hg19 Xq27.1-28(chrX:138331745-155233731)x1	ABCD1, AFF2 +145 more	Copy number loss	not provided	GPathogenic

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