ClinVar for Gene (Select 80258) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	MIR1468, MIR1587 +2598 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3235723	NM_025184.4(EFHC2):c.1574A>T (p.Asn525Ile)	EFHC2 (N525I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3087555	NM_025184.4(EFHC2):c.812G>A (p.Gly271Asp)	EFHC2 (G271D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087554	NM_025184.4(EFHC2):c.625C>G (p.Pro209Ala)	EFHC2 (P209A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087553	NM_025184.4(EFHC2):c.2129C>T (p.Pro710Leu)	EFHC2 (P123L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087552	NM_025184.4(EFHC2):c.2089G>T (p.Ala697Ser)	EFHC2 (A110S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087551	NM_025184.4(EFHC2):c.1823G>A (p.Arg608His)	EFHC2 (R21H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087550	NM_025184.4(EFHC2):c.1822C>T (p.Arg608Cys)	EFHC2 (R21C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087549	NM_025184.4(EFHC2):c.1232A>G (p.Lys411Arg)	EFHC2 (K411R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087548	NM_025184.4(EFHC2):c.1148C>T (p.Pro383Leu)	EFHC2 (P383L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087547	NM_025184.4(EFHC2):c.1105G>A (p.Gly369Arg)	EFHC2 (G369R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087546	NM_025184.4(EFHC2):c.1079C>T (p.Thr360Met)	EFHC2 (T360M)	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 2689002	NM_025184.4(EFHC2):c.138A>T (p.Glu46Asp)	EFHC2 (E46D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685745	GRCh37/hg19 Xp11.3(chrX:44131697-44392346)x2	EFHC2, FUNDC1	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 2660366	NM_025184.4(EFHC2):c.417G>A (p.Pro139=)	EFHC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660365	NM_025184.4(EFHC2):c.960C>T (p.Phe320=)	EFHC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660364	NM_025184.4(EFHC2):c.1408A>G (p.Ile470Val)	EFHC2 (I470V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2660363	NM_025184.4(EFHC2):c.1539G>A (p.Thr513=)	EFHC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660362	NM_025184.4(EFHC2):c.2160T>C (p.Asp720=)	EFHC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2612179	NM_025184.4(EFHC2):c.131G>A (p.Gly44Asp)	EFHC2 (G44D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591595	NM_025184.4(EFHC2):c.949G>A (p.Gly317Ser)	EFHC2 (G317S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588567	NM_025184.4(EFHC2):c.2241G>C (p.Glu747Asp)	EFHC2 (E747D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588438	NM_025184.4(EFHC2):c.418C>G (p.Pro140Ala)	EFHC2 (P140A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544176	NM_025184.4(EFHC2):c.2226C>A (p.Asp742Glu)	EFHC2 (D155E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531008	NM_025184.4(EFHC2):c.487C>T (p.Arg163Trp)	EFHC2 (R163W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522575	NM_025184.4(EFHC2):c.304T>C (p.Tyr102His)	EFHC2 (Y102H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518660	NM_025184.4(EFHC2):c.1410A>G (p.Ile470Met)	EFHC2 (I470M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2488697	NM_025184.4(EFHC2):c.1235C>T (p.Pro412Leu)	EFHC2 (P412L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482946	NM_025184.4(EFHC2):c.346A>G (p.Asn116Asp)	EFHC2 (N116D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456442	NM_025184.4(EFHC2):c.2063A>G (p.Gln688Arg)	EFHC2 (Q101R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426670	NC_000023.10:g.(?_43515590)_(44970656_?)del	DUSP21, EFHC2 +5 more	Deletion	Kabuki syndrome 2	GPathogenic
Select item 2360713	NM_025184.4(EFHC2):c.1574A>G (p.Asn525Ser)	EFHC2 (N525S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332539	NM_025184.4(EFHC2):c.599G>A (p.Arg200Gln)	EFHC2 (R200Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329378	NM_025184.4(EFHC2):c.574C>A (p.Pro192Thr)	EFHC2 (P192T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322622	NM_025184.4(EFHC2):c.632G>A (p.Arg211His)	EFHC2 (R211H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320901	NM_025184.4(EFHC2):c.305A>G (p.Tyr102Cys)	EFHC2 (Y102C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309749	NM_025184.4(EFHC2):c.725T>C (p.Met242Thr)	EFHC2 (M242T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309234	NM_025184.4(EFHC2):c.268C>T (p.Leu90Phe)	EFHC2 (L90F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262551	NM_025184.4(EFHC2):c.1565G>A (p.Arg522His)	EFHC2 (R522H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212887	NM_025184.4(EFHC2):c.85T>C (p.Cys29Arg)	EFHC2 (C29R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210485	NM_025184.4(EFHC2):c.463G>A (p.Gly155Ser)	EFHC2 (G155S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209439	NM_025184.4(EFHC2):c.1138C>T (p.Pro380Ser)	EFHC2 (P380S)	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	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 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 1340556	GRCh37/hg19 Xp11.3(chrX:44193658-44573271)x2	EFHC2, FUNDC1	Copy number gain	not provided	GUncertain significance
Select item 1318353	NM_025184.4(EFHC2):c.1516G>A (p.Glu506Lys)	EFHC2 (E506K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1205848	NM_025184.4(EFHC2):c.625C>T (p.Pro209Ser)	EFHC2 (P209S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	MAMLD1, MAOA +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 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 816270	GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1	ACE2, ACOT9 +305 more	Copy number loss	not provided	GPathogenic
Select item 787518	NM_025184.4(EFHC2):c.170G>A (p.Cys57Tyr)	EFHC2 (C57Y)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 635934	Single allele	SUPT20HL2, SYAP1 +177 more	Deletion	Neurodevelopmental disorder	GPathogenic
Select item 626291	Single allele	PAGE2B, PAGE3 +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 564772	GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2	ABCB7, ACE2 +415 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	ADGRG4, ACTRT1 +541 more	Indel	Heterotaxy, visceral, 1, X-linked	GPathogenic
Select item 545387	NC_000023.11:g.(?_44209146)_(46109507_?)del	MIR222, MIR222HG +29 more	Deletion	Autism	GLikely pathogenic
Select item 488014	Single allele	LOC130068573, LOC130068624 +2631 more	Duplication	Schizophrenia +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 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 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	AWAT2, BCLAF3 +568 more	Copy number gain	not provided	GUncertain significance
Select item 395718	GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1	FAM133A, FAM156A +819 more	Copy number loss	See cases	GPathogenic

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