ClinVar for Gene (Select 4129) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3292885	NM_000898.5(MAOB):c.1514C>T (p.Thr505Met)	MAOB (T505M)	Single nucleotide variant (missense variant)	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 3122630	NM_000898.5(MAOB):c.587C>G (p.Thr196Arg)	MAOB (T196R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122629	NM_000898.5(MAOB):c.433A>G (p.Asn145Asp)	MAOB (N145D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122628	NM_000898.5(MAOB):c.391A>C (p.Ser131Arg)	MAOB (S131R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122627	NM_000898.5(MAOB):c.321G>T (p.Trp107Cys)	MAOB (W107C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122626	NM_000898.5(MAOB):c.222G>T (p.Glu74Asp)	MAOB (E74D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122625	NM_000898.5(MAOB):c.1022T>C (p.Met341Thr)	MAOB (M341T)	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 2685744	GRCh37/hg19 Xp11.3(chrX:43678042-43809550)x2	MAOB, NDP	Copy number gain	not provided	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 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 2685063	GRCh37/hg19 Xp11.4-11.23(chrX:42046069-46491183)x0	CHST7, DIPK2B +12 more	Copy number loss	not provided	GPathogenic
Select item 2660360	NM_000898.5(MAOB):c.82C>T (p.Leu28=)	MAOB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660359	NM_000898.5(MAOB):c.1431C>T (p.Ile477=)	MAOB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2610938	NM_000898.5(MAOB):c.121G>A (p.Gly41Ser)	MAOB (G41S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559494	NM_000898.5(MAOB):c.1465G>A (p.Val489Met)	MAOB (V489M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550545	NM_000898.5(MAOB):c.988G>A (p.Asp330Asn)	MAOB (D330N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533159	NM_000898.5(MAOB):c.459C>G (p.Asp153Glu)	MAOB (D153E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516252	NM_000898.5(MAOB):c.725G>A (p.Arg242Lys)	MAOB (R242K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513838	NM_000898.5(MAOB):c.463C>T (p.Leu155Phe)	MAOB (L155F)	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 2426670	NC_000023.10:g.(?_43515590)_(44970656_?)del	DUSP21, EFHC2 +5 more	Deletion	Kabuki syndrome 2	GPathogenic
Select item 2422624	NC_000023.10:g.(?_43515590)_(43817891_?)del	MAOA, MAOB +1 more	Deletion	not provided	GPathogenic
Select item 2398700	NM_000898.5(MAOB):c.481G>T (p.Ala161Ser)	MAOB (A161S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2396982	NM_000898.5(MAOB):c.91G>A (p.Val31Ile)	MAOB (V31I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275653	NM_000898.5(MAOB):c.842T>C (p.Met281Thr)	MAOB (M281T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213504	NM_000898.5(MAOB):c.175T>G (p.Ser59Ala)	MAOB (S59A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808692	GRCh37/hg19 Xp11.4-11.3(chrX:41350855-44616591)x0	CASK, EFHC2 +6 more	Copy number loss	not provided	GPathogenic
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 1807922	GRCh37/hg19 Xp11.3(chrX:43615734-44011605)x2	EFHC2, MAOB +1 more	Copy number gain	not provided	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 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 1180516	GRCh37/hg19 Xp11.4-11.3(chrX:42069104-45843277)x1	DIPK2B, DUSP21 +8 more	Copy number loss	not provided	GPathogenic
Select item 1047883	GRCh37/hg19 Xp11.4-11.3(chrX:39645568-44199000)	MPC1L, GPR82 +13 more	Copy number loss	Motor delay +2 more	GPathogenic
Select item 1047878	GRCh37/hg19 Xp11.4-11.3(chrX:41342834-43901936)	CASK, GPR34 +4 more	Copy number loss	Global developmental delay +1 more	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 979779	GRCh37/hg19 Xp11.3(chrX:43740441-43858706)x2	MAOB, NDP	Copy number gain	not provided	GUncertain significance
Select item 816337	GRCh37/hg19 Xp21.1-11.3(chrX:32849282-43713387)x1	ATP6AP2, BCOR +32 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 813719	GRCh37/hg19 Xp11.4-11.3(chrX:41150139-43976458)	MAOB, DDX3X +6 more	Copy number loss	Microcephaly	GPathogenic
Select item 791380	NM_000898.5(MAOB):c.1410+8A>G	MAOB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 769175	NM_000898.5(MAOB):c.1444T>A (p.Leu482Met)	MAOB (L482M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 740061	NM_000898.5(MAOB):c.1443T>C (p.Phe481=)	MAOB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 728050	NM_000898.5(MAOB):c.1464C>T (p.Ser488=)	MAOB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 717563	NM_000898.5(MAOB):c.402A>G (p.Pro134=)	MAOB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 716258	NM_000898.5(MAOB):c.837A>G (p.Pro279=)	MAOB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 713666	NM_000898.5(MAOB):c.1138-9A>G	MAOB	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 711252	NM_000898.5(MAOB):c.84G>T (p.Leu28=)	MAOB	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 694513	46,Y,inv(X)(p21.1q13.3)	ABCB7, AKAP4 +268 more	Inversion	Elevated circulating creatine kinase concentration	GLikely pathogenic
Select item 688137	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	ARHGAP36, ARHGAP4 +818 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 685032	GRCh37/hg19 Xp11.4-11.3(chrX:42165435-43684005)x0	MAOA, MAOB	Copy number loss	not provided	GPathogenic
Select item 684962	GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1	ABCB7, AKAP4 +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 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 625640	GRCh37/hg19 Xp11.3-11.23(chrX:43507300-48929622)	ARAF, CCDC120 +64 more	Copy number gain	not provided	GPathogenic
Select item 564834	GRCh37/hg19 Xp11.3(chrX:43396992-43626868)x2	MAOA, MAOB	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 545551	NC_000023.10:g.36649710_136649711del100000002insG	AMER1, AMMECR1 +541 more	Indel	Heterotaxy, visceral, 1, X-linked	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 443504	GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1	PNMA5, PNMA6A +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 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	ABCB7, AKAP4 +300 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 442224	GRCh37/hg19 Xp11.4-11.23(chrX:41150139-46528262)x1	CASK, CHST7 +17 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	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 395011	GRCh37/hg19 Xp11.4-11.3(chrX:40933552-45379179)x2	CASK, DDX3X +12 more	Copy number gain	See cases	GLikely pathogenic
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
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

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