ClinVar for Gene (Select 257397) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3324153	NM_152787.5(TAB3):c.706T>A (p.Ser236Thr)	TAB3 (S236T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3246707	NC_000023.10:g.(?_28807461)_(33229429_?)del	DMD, FTHL17 +9 more	Deletion	not provided	GPathogenic
Select item 3245900	NC_000023.10:g.(?_30322696)_(33038337_?)del	DMD, FTHL17 +4 more	Deletion	Duchenne muscular dystrophy	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 3173227	NM_152787.5(TAB3):c.988C>T (p.Pro330Ser)	TAB3 (P330S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173226	NM_152787.5(TAB3):c.986C>T (p.Pro329Leu)	TAB3 (P329L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173225	NM_152787.5(TAB3):c.713G>A (p.Ser238Asn)	TAB3 (S238N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173224	NM_152787.5(TAB3):c.241C>T (p.Pro81Ser)	TAB3 (P81S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173223	NM_152787.5(TAB3):c.2132A>G (p.Tyr711Cys)	TAB3 (Y711C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173222	NM_152787.5(TAB3):c.1646G>A (p.Gly549Asp)	TAB3 (G549D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173220	NM_152787.5(TAB3):c.1625G>A (p.Arg542Gln)	TAB3 (R542Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173219	NM_152787.5(TAB3):c.1426C>T (p.Arg476Cys)	TAB3 (R476C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173218	NM_152787.5(TAB3):c.1082G>T (p.Gly361Val)	TAB3 (G361V)	Single nucleotide variant (missense variant +1 more)	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 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 2660237	NM_152787.5(TAB3):c.747G>A (p.Pro249=)	TAB3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2660236	NM_152787.5(TAB3):c.1701G>A (p.Ala567=)	TAB3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2622319	NM_152787.5(TAB3):c.1354A>G (p.Thr452Ala)	TAB3 (T452A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612166	NM_152787.5(TAB3):c.398C>G (p.Ala133Gly)	TAB3 (A133G)	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 2538488	NM_152787.5(TAB3):c.1167T>A (p.Asn389Lys)	TAB3 (N389K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530654	NM_152787.5(TAB3):c.667C>T (p.Leu223Phe)	TAB3 (L223F)	Single nucleotide variant (missense variant +1 more)	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 2486377	NM_152787.5(TAB3):c.430G>A (p.Glu144Lys)	TAB3 (E144K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481238	NM_152787.5(TAB3):c.299A>G (p.His100Arg)	TAB3 (H100R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459111	NM_152787.5(TAB3):c.2105G>A (p.Arg702His)	TAB3 (R674H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424934	NC_000023.10:g.(?_28807451)_(31241248_?)del	DMD, FTHL17 +9 more	Deletion	Duchenne muscular dystrophy	GPathogenic
Select item 2424847	NC_000023.10:g.(?_28807451)_(31201031_?)del	MAGEB4, DMD +9 more	Deletion	Duchenne muscular dystrophy	GLikely pathogenic
Select item 2423143	NC_000023.10:g.(?_28807461)_(33229429_?)dup	GK, NR0B1 +9 more	Duplication	Congenital adrenal hypoplasia, X-linked +1 more	GPathogenic
Select item 2398341	NM_152787.5(TAB3):c.1895C>T (p.Ser632Leu)	TAB3 (S632L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391227	NM_152787.5(TAB3):c.1949T>G (p.Val650Gly)	TAB3 (V650G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386241	NM_152787.5(TAB3):c.1911T>G (p.Ile637Met)	TAB3 (I637M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366074	NM_152787.5(TAB3):c.889C>T (p.Pro297Ser)	TAB3 (P297S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363762	NM_152787.5(TAB3):c.2006C>T (p.Ser669Phe)	TAB3 (S641F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361854	NM_152787.5(TAB3):c.2020C>T (p.Arg674Trp)	TAB3 (R646W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254217	NM_152787.5(TAB3):c.1949T>A (p.Val650Glu)	TAB3 (V622E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808829	GRCh37/hg19 Xp21.2(chrX:30905458-31015749)x3	TAB3	Copy number gain	not provided	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	DCAF8L2, DCAF8L1 +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 980265	GRCh37/hg19 Xp21.2(chrX:30870218-31102254)x3	FTHL17, TAB3	Copy number gain	not provided	GUncertain significance
Select item 833473	NC_000023.10:g.(?_30326313)_(41000684_?)del	ATP6AP2, BCOR +30 more	Deletion	Ornithine carbamoyltransferase deficiency	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 816328	GRCh37/hg19 Xp21.2(chrX:30780009-31458625)x3	TAB3, FTHL17 +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 790384	NM_152787.5(TAB3):c.716C>T (p.Ser239Leu)	TAB3 (S239L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 715889	NM_152787.5(TAB3):c.537G>A (p.Pro179=)	TAB3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 714913	NM_152787.5(TAB3):c.1866A>G (p.Val622=)	TAB3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688990	GRCh37/hg19 Xp21.2(chrX:30892354-31250086)x2	DMD, FTHL17 +1 more	Copy number gain	not provided	GUncertain significance
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 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 442620	GRCh37/hg19 Xp21.2(chrX:30869943-31263793)x2	DMD, FTHL17 +1 more	Copy number gain	See cases	GUncertain significance
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

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