ClinVar for Gene (Select 389856) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3187327	NM_001145073.3(USP27X):c.606C>G (p.Ile202Met)	USP27X (I202M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3187326	NM_001145073.3(USP27X):c.509T>C (p.Ile170Thr)	USP27X (I170T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3187325	NM_001145073.3(USP27X):c.38A>G (p.Gln13Arg)	USP27X (Q13R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3187324	NM_001145073.3(USP27X):c.119T>C (p.Val40Ala)	USP27X (V40A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063919	NM_001145073.3(USP27X):c.89C>T (p.Ser30Leu)	USP27X (S30L)	Single nucleotide variant (missense variant)	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 3030001	NM_001145073.3(USP27X):c.972_978del (p.Thr325fs)	USP27X (T325fs)	Deletion (frameshift variant)	USP27X-related disorder	GUncertain significance
Select item 2685708	GRCh37/hg19 Xp21.1-11.22(chrX:36355238-54106257)x1	CCDC22, CFP +155 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 2684980	GRCh37/hg19 Xp11.23-11.22(chrX:48224455-52832596)x3	AKAP4, BMP15 +75 more	Copy number gain	not provided	GPathogenic
Select item 2684394	NM_001145073.3(USP27X):c.954del (p.Lys318fs)	USP27X (K318fs)	Deletion (frameshift variant)	Intellectual disability, X-linked 105	GLikely pathogenic
Select item 2660538	NM_001145073.3(USP27X):c.978C>T (p.Tyr326=)	USP27X	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660537	NM_001145073.3(USP27X):c.663C>T (p.Thr221=)	USP27X	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2633559	NM_001145073.3(USP27X):c.737G>T (p.Gly246Val)	USP27X (G246V)	Single nucleotide variant (missense variant)	USP27X-related disorder	GUncertain significance
Select item 2594085	NM_001145073.3(USP27X):c.59G>C (p.Gly20Ala)	USP27X (G20A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2499538	NM_001145073.3(USP27X):c.541A>G (p.Lys181Glu)	USP27X (K181E)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 105	GUncertain significance
Select item 2499537	NM_001145073.3(USP27X):c.226G>A (p.Gly76Ser)	USP27X (G76S)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 105	GUncertain significance
Select item 2499536	NM_001145073.3(USP27X):c.394G>T (p.Glu132Ter)	USP27X (E132*)	Single nucleotide variant (nonsense)	Intellectual disability, X-linked 105	GLikely pathogenic
Select item 2499535	NM_001145073.3(USP27X):c.937T>G (p.Phe313Val)	USP27X (F313V)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 105	GLikely pathogenic
Select item 2499534	NM_001145073.3(USP27X):c.1205dup (p.Ala403fs)	USP27X (A403fs)	Duplication (frameshift variant)	Intellectual disability, X-linked 105	GLikely pathogenic
Select item 2499533	NM_001145073.3(USP27X):c.431A>G (p.Tyr144Cys)	USP27X (Y144C)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 105	GUncertain significance
Select item 2499532	NM_001145073.3(USP27X):c.1211G>A (p.Ser404Asn)	USP27X (S404N)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 105	GUncertain significance
Select item 2445496	NC_000023.10:g.(?_46466387)_(51241672_?)del	CCDC120, ZNF630 +91 more	Deletion	not provided	GPathogenic
Select item 2425881	NC_000023.10:g.(?_46466387)_(50659607_?)del	AKAP4, ARAF +89 more	Deletion	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GPathogenic
Select item 2425308	NC_000023.10:g.(?_48368209)_(51241672_?)del	AKAP4, BMP15 +60 more	Deletion	not provided	GPathogenic
Select item 2423581	NC_000023.10:g.(?_47001716)_(50659607_?)dup	AKAP4, ARAF +85 more	Duplication	Neurodegeneration with brain iron accumulation 5 +2 more	GUncertain significance
Select item 2422979	NC_000023.10:g.(?_48368209)_(51241672_?)dup	CCNB3, AKAP4 +60 more	Duplication	Thrombocytopenia 1 +2 more	GUncertain significance
Select item 2328542	NM_001145073.3(USP27X):c.110A>G (p.Gln37Arg)	USP27X (Q37R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328071	NM_001145073.3(USP27X):c.1064C>A (p.Thr355Asn)	USP27X (T355N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308152	NM_001145073.3(USP27X):c.392G>A (p.Arg131Gln)	USP27X (R131Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295141	NM_001145073.3(USP27X):c.58G>C (p.Gly20Arg)	USP27X (G20R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245292	NM_001145073.3(USP27X):c.802C>T (p.Arg268Trp)	USP27X (R268W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2097077	NM_001145073.3(USP27X):c.221_225delinsAGA (p.Thr74fs)	USP27X (T74fs)	Indel (frameshift variant)	not provided	GLikely pathogenic
Select item 1808658	GRCh37/hg19 Xp11.4-11.22(chrX:39525562-52832596)x3	AKAP4, ARAF +126 more	Copy number gain	not provided	GPathogenic
Select item 1805819	NM_001145073.3(USP27X):c.1032G>C (p.Glu344Asp)	USP27X (E344D)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 105	GUncertain significance
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	MIR224, MIR424 +793 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 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 +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 1678321	NM_001145073.3(USP27X):c.1063A>G (p.Thr355Ala)	USP27X (T355A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1676600	Single allele	NUDT10, NUDT11 +22 more	Deletion	X-linked intellectual disability, Stocco dos Santos type	GUncertain significance
Select item 1676599	Single allele	USP27X, AKAP4 +9 more	Deletion	X-linked intellectual disability, Stocco dos Santos type	GUncertain significance
Select item 1411770	NC_000023.10:g.(?_48932462)_(49840657_?)dup	PPP1R3F, PRICKLE3 +31 more	Duplication	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GUncertain significance
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 1321965	NM_001145073.3(USP27X):c.106C>T (p.Gln36Ter)	USP27X (Q36*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder +1 more	GPathogenic/Likely pathogenic
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	CXorf49B, CXorf51A +821 more	Copy number loss	not provided	GPathogenic
Select item 1180517	GRCh37/hg19 Xp11.23-11.22(chrX:47179068-54424785)x2	FAM156B, FOXP3 +109 more	Copy number gain	not provided	GPathogenic
Select item 1050083	NM_001145073.3(USP27X):c.-79G>C	USP27X	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1031164	NM_001145073.3(USP27X):c.94G>A (p.Glu32Lys)	USP27X (E32K)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 105	GUncertain significance
Select item 1031163	NM_001145073.3(USP27X):c.1157G>A (p.Arg386Gln)	USP27X (R386Q)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 105	GUncertain significance
Select item 1012871	NM_001145073.3(USP27X):c.222G>A (p.Thr74=)	USP27X	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1007859	NC_000023.10:g.(?_48382160)_(49856876_?)dup	TIMM17B, USP27X +52 more	Duplication	SLC35A2-congenital disorder of glycosylation +1 more	GUncertain significance
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 979778	GRCh37/hg19 Xp11.23-11.22(chrX:48178413-52686510)x2	AKAP4, BMP15 +73 more	Copy number gain	not provided	GPathogenic
Select item 979777	GRCh37/hg19 Xp11.23-11.22(chrX:48102202-52685635)x2	AKAP4, BMP15 +74 more	Copy number gain	not provided	GPathogenic
Select item 931735	NM_001145073.3(USP27X):c.719_721del (p.Phe240del)	USP27X (F240del)	Deletion (inframe_deletion)	Intellectual disability, X-linked 105	GUncertain significance
Select item 816349	GRCh37/hg19 Xp11.23-11.22(chrX:48307437-50657313)x3	AKAP4, BMP15 +60 more	Copy number gain	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 799886	NM_001145073.3(USP27X):c.1227G>T (p.Leu409=)	USP27X	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 799709	NM_001145073.3(USP27X):c.288C>T (p.Leu96=)	USP27X	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 789546	NM_001145073.3(USP27X):c.1039A>G (p.Met347Val)	USP27X (M347V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 783081	NM_001145073.3(USP27X):c.705C>G (p.Gly235=)	USP27X	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 758884	NM_001145073.3(USP27X):c.921T>C (p.Cys307=)	USP27X	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 727744	NM_001145073.3(USP27X):c.471A>G (p.Leu157=)	USP27X	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 694513	46,Y,inv(X)(p21.1q13.3)	ABCB7, AKAP4 +270 more	Inversion	Elevated circulating creatine kinase concentration	GLikely pathogenic
Select item 688137	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	RBMXL3, RENBP +821 more	Copy number loss	not provided	GPathogenic
Select item 687087	GRCh37/hg19 Xp11.23-11.22(chrX:48224266-52744574)x2	NUDT10, NUDT11 +73 more	Copy number gain	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	ZNF275, ZNF280C +821 more	Copy number gain	not provided	GPathogenic
Select item 684962	GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1	ITGB1BP2, RGN +281 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 626291	Single allele	PAGE2B, PAGE3 +733 more	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 625216	NM_001145073.3(USP27X):c.310_311del (p.Asp104fs)	USP27X (D104fs)	Microsatellite (frameshift variant)	Intellectual disability	GPathogenic
Select item 564843	GRCh37/hg19 Xp11.23(chrX:49360237-49795931)x2	MIR502, PAGE4 +6 more	Copy number gain	not provided	GUncertain significance
Select item 564842	GRCh37/hg19 Xp11.23-11.22(chrX:48156672-52672728)x1	AKAP4, BMP15 +72 more	Copy number loss	not provided	GPathogenic
Select item 564772	GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2	ABCB7, ACE2 +415 more	Copy number gain	not provided	GPathogenic
Select item 545551	NC_000023.10:g.36649710_136649711del100000002insG	ADGRG4, ACTRT1 +541 more	Indel	Heterotaxy, visceral, 1, X-linked	GPathogenic
Select item 488014	Single allele	ARMCX3, CT47A11 +2631 more	Duplication	Autism +1 more	GPathogenic
Select item 443974	GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731)	TBL1X, TBX22 +818 more	Copy number gain	See cases	GPathogenic
Select item 443946	GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1	ABCB7, ACE2 +539 more	Copy number loss	See cases	GPathogenic
Select item 443504	GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1	ABCB7, ABCD1 +695 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 443190	GRCh37/hg19 Xp11.23-11.22(chrX:48290189-52154997)x4	AKAP4, BMP15 +67 more	Copy number gain	See cases	GPathogenic
Select item 443184	GRCh37/hg19 Xp11.23-11.22(chrX:48224454-52813336)x3	AKAP4, BMP15 +74 more	Copy number gain	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 442832	GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1	PPP1R3F, RGN +300 more	Copy number loss	See cases	GPathogenic
Select item 442724	GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1	HDAC8, HDX +731 more	Copy number loss	See cases	GPathogenic
Select item 442354	GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686)	GAGE1, GAGE12H +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 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	AWAT2, BCLAF3 +568 more	Copy number gain	not provided	GUncertain significance

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