ClinVar for Gene (Select 7543) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366056	NM_003410.4(ZFX):c.598CAG[1] (p.Gln201del)	ZFX (Q201del +1 more)	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 3342771	NM_003410.4(ZFX):c.1933T>C (p.Ser645Pro)	ZFX (S416P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3342764	NM_003410.4(ZFX):c.715G>T (p.Asp239Tyr)	ZFX (D10Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342684	NM_003410.4(ZFX):c.2244G>T (p.Gln748His)	ZFX (Q519H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3342641	NM_003410.4(ZFX):c.68G>T (p.Gly23Val)	ZFX (G23V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3342640	NM_003410.4(ZFX):c.2236G>A (p.Val746Met)	ZFX (V517M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3342584	NM_003410.4(ZFX):c.1529A>C (p.His510Pro)	ZFX (H281P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3334576	NM_003410.4(ZFX):c.1554G>A (p.Met518Ile)	ZFX (M518I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3193353	NM_003410.4(ZFX):c.446A>G (p.His149Arg)	ZFX (H188R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193352	NM_003410.4(ZFX):c.1877T>C (p.Ile626Thr)	ZFX (I397T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193351	NM_003410.4(ZFX):c.115G>C (p.Val39Leu)	ZFX (V39L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3066053	NM_003410.4(ZFX):c.115_116del (p.Val39fs)	ZFX (V39fs +1 more)	Deletion (frameshift variant +1 more)	Intellectual developmental disorder, x-linked, syndromic 37	GPathogenic
Select item 3066052	NM_003410.4(ZFX):c.1319dup (p.Leu440fs)	ZFX (L211fs +2 more)	Duplication (frameshift variant +1 more)	Intellectual developmental disorder, x-linked, syndromic 37	GPathogenic
Select item 3066051	NM_003410.4(ZFX):c.2357G>A (p.Arg786Gln)	ZFX (R786Q +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder, x-linked, syndromic 37	GPathogenic
Select item 3066050	NM_003410.4(ZFX):c.2321A>G (p.Tyr774Cys)	ZFX (Y774C +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder, x-linked, syndromic 37	GPathogenic
Select item 3066049	NM_003410.4(ZFX):c.2312C>T (p.Thr771Met)	ZFX (T771M +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual developmental disorder, x-linked, syndromic 37	GPathogenic
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 2685727	GRCh37/hg19 Xp22.33-21.2(chrX:168547-30774453)x2	ACE2, ACOT9 +120 more	Copy number gain	not provided	GPathogenic
Select item 2685690	GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	HDAC6, RGN +275 more	Copy number loss	not provided	GPathogenic
Select item 2660184	NM_003410.4(ZFX):c.1935A>C (p.Ser645=)	ZFX	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2660183	NM_003410.4(ZFX):c.978G>T (p.Val326=)	ZFX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2597760	NM_003410.4(ZFX):c.2168G>A (p.Arg723Lys)	ZFX (R723K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2579271	GRCh38/hg38 Xp22.11-21.1(chrX:23730430-32849918)x3	ACOT9, APOO +113 more	Copy number gain	Polymicrogyria	GPathogenic
Select item 2536020	NM_003410.4(ZFX):c.523G>A (p.Val175Ile)	ZFX (V175I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531146	NM_003410.4(ZFX):c.874C>T (p.Arg292Cys)	ZFX (R331C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2470121	NM_003410.4(ZFX):c.1335A>C (p.Lys445Asn)	ZFX (K484N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391244	NM_003410.4(ZFX):c.911A>G (p.Asn304Ser)	ZFX (N304S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382055	NM_003410.4(ZFX):c.403A>G (p.Thr135Ala)	ZFX (T174A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343727	NM_003410.4(ZFX):c.419A>T (p.His140Leu)	ZFX (H140L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308246	NM_003410.4(ZFX):c.244A>G (p.Met82Val)	ZFX (M121V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239870	NM_003410.4(ZFX):c.329A>G (p.His110Arg)	ZFX (H110R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238413	NM_003410.4(ZFX):c.304G>A (p.Val102Ile)	ZFX (V102I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	ABCB7, ABCD1 +790 more	Copy number loss	See cases	GPathogenic
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703583	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304)	ACE2, ACOT9 +315 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703582	Single allele	ADGRG2, ACE2 +309 more	Complex	Turner syndrome	GPathogenic
Select item 1703581	GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)	ACE2, ACOT9 +267 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +819 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	AKAP14, CT47A11 +819 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1526775	GRCh37/hg19 Xp22.11(chrX:24142978-24640369)	PCYT1B, PDK3 +3 more	Copy number loss	not specified	GUncertain significance
Select item 1526773	GRCh37/hg19 Xp22.11(chrX:23874615-24574925)	APOO, CXorf58 +6 more	Copy number gain	not specified	GUncertain significance
Select item 1526771	GRCh37/hg19 Xp22.11-21.2(chrX:23105194-31458625)	ACOT9, APOO +30 more	Copy number gain	not specified	GUncertain significance
Select item 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	RADX, RAI2 +818 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	GPM6B, KLHL15 +818 more	Copy number gain	not provided	GPathogenic
Select item 1340678	GRCh37/hg19 Xp22.11(chrX:23968582-24177078)x3	KLHL15, EIF2S3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1340333	GRCh37/hg19 Xp22.11(chrX:23977058-24177078)x2	EIF2S3, KLHL15 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	KLHL34, KLHL4 +818 more	Copy number loss	not provided	GPathogenic
Select item 992647	GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1	ACE2, ACOT9 +309 more	Copy number loss	not provided	GPathogenic
Select item 983193	GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1	ACE2, ACOT9 +304 more	Copy number loss	See cases	GPathogenic
Select item 816622	GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1	FANCB, ARSD-AS1 +125 more	Copy number loss	not provided	GPathogenic
Select item 816322	GRCh37/hg19 Xp22.11(chrX:24205066-24424092)x2	ZFX, SUPT20HL2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 816270	GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1	ACE2, ACOT9 +305 more	Copy number loss	not provided	GPathogenic
Select item 731146	NM_003410.4(ZFX):c.1587T>C (p.Ala529=)	ZFX	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 711679	NM_003410.4(ZFX):c.192C>A (p.Ile64=)	ZFX	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 688137	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	ARHGAP36, ARHGAP4 +818 more	Copy number loss	not provided	GPathogenic
Select item 686970	GRCh37/hg19 Xp22.12-21.1(chrX:20925922-35511818)x1	ACOT9, APOO +42 more	Copy number loss	not provided	GPathogenic
Select item 685565	GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1	RBBP7, RBM10 +316 more	Copy number loss	not provided	GPathogenic
Select item 685331	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	BEX1, BEX2 +818 more	Copy number gain	not provided	GPathogenic
Select item 684963	GRCh37/hg19 Xp22.33-11.4(chrX:168546-38054739)x1	ACE2, ACOT9 +139 more	Copy number loss	not provided	GPathogenic
Select item 638115	GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1	ACE2, ACOT9 +257 more	Copy number loss	See cases	GPathogenic
Select item 635934	Single allele	SUPT20HL2, SYAP1 +177 more	Deletion	Neurodevelopmental disorder	GPathogenic
Select item 626291	Single allele	AKAP14, CCDC22 +733 more	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 564803	GRCh37/hg19 Xp22.11(chrX:23373804-24332336)x2	SAT1, ACOT9 +8 more	Copy number gain	not provided	GUncertain significance
Select item 564802	GRCh37/hg19 Xp22.11-21.3(chrX:23371361-25493197)x3	ARX, APOO +13 more	Copy number gain	not provided	GUncertain significance
Select item 564772	GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2	RPS6KA6, UPRT +413 more	Copy number gain	not provided	GPathogenic
Select item 564696	GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1	ACE2, ACOT9 +170 more	Copy number loss	not provided	GPathogenic
Select item 564695	GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1	ACE2, ACOT9 +154 more	Copy number loss	not provided	GPathogenic
Select item 488014	Single allele	ARSF, CFAP47 +2632 more	Duplication	Autism +1 more	GPathogenic
Select item 443974	GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731)	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 443946	GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1	EIF1AX, EIF2S3 +539 more	Copy number loss	See cases	GPathogenic
Select item 443634	GRCh37/hg19 Xp22.33-21.1(chrX:168546-35841052)x1	ACE2, ACOT9 +127 more	Copy number loss	See cases	GPathogenic
Select item 443322	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1	ACE2, ACOT9 +314 more	Copy number loss	See cases	GPathogenic
Select item 443028	GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1	SYN1, SYP +294 more	Copy number loss	See cases	GPathogenic
Select item 442812	GRCh37/hg19 Xp22.33-22.11(chrX:168546-24780527)x3	ACE2, ACOT9 +105 more	Copy number gain	See cases	GPathogenic
Select item 442790	GRCh37/hg19 Xp22.33-21.1(chrX:168546-37515849)x1	ACE2, ACOT9 +131 more	Copy number loss	See cases	GPathogenic
Select item 442724	GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1	AP1S2, APEX2 +731 more	Copy number loss	See cases	GPathogenic
Select item 442354	GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686)	ABCB7, ACE2 +390 more	Copy number loss	See cases	GPathogenic
Select item 442162	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1	AP1S2, APEX2 +300 more	Copy number loss	See cases	GPathogenic
Select item 442067	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1	ARSF, XAGE2 +312 more	Copy number loss	See cases	GPathogenic
Select item 442024	GRCh37/hg19 Xp22.2-21.2(chrX:15290524-29747172)x2	ACE2, ACOT9 +65 more	Copy number gain	See cases	GLikely pathogenic
Select item 441995	GRCh37/hg19 Xp22.33-21.2(chrX:168546-31085327)x1	ACE2, ACOT9 +121 more	Copy number loss	See cases	GPathogenic
Select item 441968	GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1	AP1S2, APEX2 +312 more	Copy number loss	See cases	GPathogenic
Select item 441856	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1	WDR45, WNK3 +313 more	Copy number loss	See cases	GPathogenic
Select item 425520	GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2	BEX4, BEX5 +566 more	Copy number gain	not provided	GUncertain significance
Select item 395718	GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1	TMLHE, TMSB15A +819 more	Copy number loss	See cases	GPathogenic
Select item 395687	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 395686	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4	BEX1, BEX2 +819 more	Copy number gain	See cases	GPathogenic
Select item 394706	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 394672	GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1	ABCB7, ADGRG2 +818 more	Copy number loss	See cases	GPathogenic
Select item 394013	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253949	GRCh37/hg19 Xp22.11-21.3(chrX:24006637-25035452)x2	PCYT1B, POLA1 +7 more	Copy number gain	See cases	GUncertain significance
Select item 253928	GRCh37/hg19 Xp22.11(chrX:23693142-24483640)x2	SUPT20HL2, APOO +9 more	Copy number gain	See cases	GUncertain significance
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253615	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3	ACE2, ACOT9 +316 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	ABCB7, ABCD1 +783 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic

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