ClinVar for Gene (Select 4113) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 191

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338190	NM_002364.5(MAGEB2):c.83del (p.Pro28fs)	MAGEB2 (P28fs)	Deletion (frameshift variant)	Autism	GUncertain significance
Select item 3292614	NM_002364.5(MAGEB2):c.218C>A (p.Ala73Asp)	MAGEB2 (A73D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292613	NM_002364.5(MAGEB2):c.432G>C (p.Arg144Ser)	MAGEB2 (R144S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292612	NM_002364.5(MAGEB2):c.869A>G (p.Glu290Gly)	MAGEB2 (E290G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246707	NC_000023.10:g.(?_28807461)_(33229429_?)del	DMD, FTHL17 +9 more	Deletion	not provided	GPathogenic
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3122109	NM_002364.5(MAGEB2):c.893C>A (p.Thr298Asn)	MAGEB2 (T298N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122108	NM_002364.5(MAGEB2):c.858G>C (p.Met286Ile)	MAGEB2 (M286I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122107	NM_002364.5(MAGEB2):c.608T>C (p.Leu203Pro)	MAGEB2 (L203P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122106	NM_002364.5(MAGEB2):c.589G>C (p.Asp197His)	MAGEB2 (D197H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062551	GRCh37/hg19 Xp21.2(chrX:29592037-30253577)	IL1RAPL1, MAGEB2 +1 more	Copy number gain	not specified	GUncertain significance
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 2685701	GRCh37/hg19 Xp22.11-11.3(chrX:24633854-44236178)x1	XK, ARX +51 more	Copy number loss	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 2681383	NM_002364.5(MAGEB2):c.531T>G (p.Thr177=)	MAGEB2	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2660226	NM_002364.5(MAGEB2):c.715T>C (p.Ser239Pro)	MAGEB2 (S239P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2660225	NM_002364.5(MAGEB2):c.696C>A (p.Val232=)	MAGEB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660224	NM_002364.5(MAGEB2):c.603A>G (p.Arg201=)	MAGEB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660223	NM_002364.5(MAGEB2):c.393C>T (p.Ser131=)	MAGEB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2579271	GRCh38/hg38 Xp22.11-21.1(chrX:23730430-32849918)x3	ACOT9, APOO +113 more	Copy number gain	Polymicrogyria	GPathogenic
Select item 2556873	NM_002364.5(MAGEB2):c.273G>T (p.Glu91Asp)	MAGEB2 (E91D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546827	NM_002364.5(MAGEB2):c.647A>G (p.Asn216Ser)	MAGEB2 (N216S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514628	NM_002364.5(MAGEB2):c.116C>A (p.Pro39His)	MAGEB2 (P39H)	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 2478063	NM_002364.5(MAGEB2):c.124T>C (p.Ser42Pro)	MAGEB2 (S42P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475346	NM_002364.5(MAGEB2):c.360G>C (p.Gln120His)	MAGEB2 (Q120H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470449	NM_002364.5(MAGEB2):c.118T>A (p.Cys40Ser)	MAGEB2 (C40S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2424934	NC_000023.10:g.(?_28807451)_(31241248_?)del	MAGEB2, DMD +9 more	Deletion	Duchenne muscular dystrophy	GPathogenic
Select item 2424847	NC_000023.10:g.(?_28807451)_(31201031_?)del	MAGEB4, FTHL17 +9 more	Deletion	Duchenne muscular dystrophy	GLikely pathogenic
Select item 2423143	NC_000023.10:g.(?_28807461)_(33229429_?)dup	DMD, FTHL17 +9 more	Duplication	Congenital adrenal hypoplasia, X-linked +1 more	GPathogenic
Select item 2393096	NM_002364.5(MAGEB2):c.374A>G (p.Lys125Arg)	MAGEB2 (K125R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375978	NM_002364.5(MAGEB2):c.43C>T (p.Arg15Cys)	MAGEB2 (R15C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2349146	NM_002364.5(MAGEB2):c.77A>G (p.Asn26Ser)	MAGEB2 (N26S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297530	NM_002364.5(MAGEB2):c.770A>C (p.Tyr257Ser)	MAGEB2 (Y257S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264437	NM_002364.5(MAGEB2):c.616C>A (p.Pro206Thr)	MAGEB2 (P206T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251270	NM_002364.5(MAGEB2):c.530C>G (p.Thr177Ser)	MAGEB2 (T177S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2244543	NM_002364.5(MAGEB2):c.863T>C (p.Val288Ala)	MAGEB2 (V288A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212015	NM_002364.5(MAGEB2):c.67C>T (p.Arg23Trp)	MAGEB2 (R23W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808637	GRCh37/hg19 Xp22.11-21.2(chrX:24675165-31490279)x1	ARX, DCAF8L1 +18 more	Copy number loss	not provided	GPathogenic
Select item 1807810	GRCh37/hg19 Xp22.11-21.1(chrX:24879855-32902136)x1	ARX, DCAF8L1 +17 more	Copy number loss	not provided	GPathogenic
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 1526777	GRCh37/hg19 Xp21.3-21.1(chrX:28798276-32131619)	DMD, FTHL17 +9 more	Copy number loss	not specified	GPathogenic
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 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	KLHL34, KLHL4 +818 more	Copy number loss	not provided	GPathogenic
Select item 1076228	NC_000023.10:g.(?_27765013)_(31697703_?)del	DCAF8L1, DCAF8L2 +12 more	Deletion	Duchenne muscular dystrophy	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 980269	GRCh37/hg19 Xp21.3-21.1(chrX:28309706-31853992)x1	TASL, MAGEB2 +9 more	Copy number loss	not provided	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 816270	GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1	ACE2, ACOT9 +305 more	Copy number loss	not provided	GPathogenic
Select item 785696	NM_002364.5(MAGEB2):c.307A>G (p.Thr103Ala)	MAGEB2 (T103A)	Single nucleotide variant (missense variant)	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 684515	Single allele	DCAF8L1, DCAF8L2 +12 more	Deletion	Chromosome Xp21 deletion syndrome	Gnot provided
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 564805	GRCh37/hg19 Xp22.11-21.1(chrX:24650157-31844543)x2	MAGEB3, MAGEB18 +18 more	Copy number gain	not provided	GPathogenic
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 444071	NC_000023.10:g.(29976475_30082636)_(31196736_31462831)del	DMD, FTHL17 +33 more	Deletion	Congenital adrenal hypoplasia, X-linked	GPathogenic
Select item 444070	NC_000023.10:g.(29155333_29973170)_(30327505_30577779)del	LOC113875019, IL1RAPL1 +14 more	Deletion	Congenital adrenal hypoplasia, X-linked	GPathogenic
Select item 444069	NC_000023.10:g.(28450110_28771544)_(31838019_32614088)del	DMD, FTHL17 +43 more	Deletion	Congenital adrenal hypoplasia, X-linked	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 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 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 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

<< First< Prev

Page of 2