ClinVar for Gene (Select 9459) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3314211	NM_004840.3(ARHGEF6):c.1471A>G (p.Ile491Val)	ARHGEF6 (I491V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314203	NM_004840.3(ARHGEF6):c.1670C>T (p.Ser557Phe)	ARHGEF6 (S403F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314192	NM_004840.3(ARHGEF6):c.1994C>G (p.Ala665Gly)	ARHGEF6 (A665G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314183	NM_004840.3(ARHGEF6):c.647A>G (p.Glu216Gly)	ARHGEF6 (E216G +1 more)	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 3148884	GRCh37/hg19 Xq25-28(chrX:125253445-155233098)x1	PRR32, ABCD1 +215 more	Copy number loss	See cases	GPathogenic
Select item 3148864	GRCh37/hg19 Xq25-28(chrX:121656905-155233098)x1	SLITRK2, SLITRK4 +221 more	Copy number loss	not provided	GPathogenic
Select item 3129375	NM_004840.3(ARHGEF6):c.713C>T (p.Thr238Ile)	ARHGEF6 (T84I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129374	NM_004840.3(ARHGEF6):c.2278A>G (p.Thr760Ala)	ARHGEF6 (T606A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129373	NM_004840.3(ARHGEF6):c.1574G>C (p.Arg525Thr)	ARHGEF6 (R371T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129372	NM_004840.3(ARHGEF6):c.1207G>A (p.Asp403Asn)	ARHGEF6 (D403N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062491	GRCh37/hg19 Xq24-28(chrX:119395676-154930047)	TAFAZZIN, TENM1 +241 more	Copy number loss	not specified	GPathogenic
Select item 3062473	GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	ABCD1, ACSL4 +321 more	Copy number loss	not specified	GPathogenic
Select item 3053181	NM_004840.3(ARHGEF6):c.1251A>G (p.Gln417=)	ARHGEF6	Single nucleotide variant (synonymous variant)	ARHGEF6-related disorder	GLikely benign
Select item 3039651	NM_004840.3(ARHGEF6):c.1665A>G (p.Ser555=)	ARHGEF6	Single nucleotide variant (synonymous variant)	ARHGEF6-related disorder	GLikely benign
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	CPXCR1, MAGEE2 +488 more	Copy number gain	not provided	GPathogenic
Select item 2688594	NM_004840.3(ARHGEF6):c.1373T>C (p.Val458Ala)	ARHGEF6 (V304A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685720	GRCh37/hg19 Xq26.1-26.3(chrX:129627661-135812056)x1	ADGRG4, ARHGAP36 +46 more	Copy number loss	not provided	GPathogenic
Select item 2685718	GRCh37/hg19 Xq24-28(chrX:119071609-155233731)x1	ABCD1, ACTRT1 +246 more	Copy number loss	not provided	GPathogenic
Select item 2685717	GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1	ABCD1, ACTRT1 +258 more	Copy number loss	not provided	GPathogenic
Select item 2661523	NM_004840.3(ARHGEF6):c.250-4A>G	ARHGEF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2635713	NM_004840.3(ARHGEF6):c.806G>T (p.Arg269Ile)	ARHGEF6 (R115I +1 more)	Single nucleotide variant (missense variant)	ARHGEF6-related disorder	GUncertain significance
Select item 2632605	NM_004840.3(ARHGEF6):c.2194A>G (p.Asn732Asp)	ARHGEF6 (N578D +1 more)	Single nucleotide variant (missense variant)	ARHGEF6-related disorder	GUncertain significance
Select item 2620490	NM_004840.3(ARHGEF6):c.748C>G (p.Leu250Val)	ARHGEF6 (L250V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619078	NM_004840.3(ARHGEF6):c.1951G>A (p.Ala651Thr)	ARHGEF6 (A497T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509024	NM_004840.3(ARHGEF6):c.1174C>T (p.Arg392Trp)	ARHGEF6 (R392W +1 more)	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 2460359	NM_004840.3(ARHGEF6):c.1483A>G (p.Lys495Glu)	ARHGEF6 (K341E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427163	NC_000023.10:g.(?_135730408)_(136113833_?)dup	ARHGEF6, CD40LG +2 more	Duplication	not provided	GPathogenic
Select item 2370581	NM_004840.3(ARHGEF6):c.70A>G (p.Ile24Val)	ARHGEF6 (I24V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284912	NM_004840.3(ARHGEF6):c.1120A>G (p.Ser374Gly)	ARHGEF6 (S374G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216603	NM_004840.3(ARHGEF6):c.745A>T (p.Ile249Phe)	ARHGEF6 (I249F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808722	GRCh37/hg19 Xq25-28(chrX:124749464-155233731)x1	ABCD1, ACTRT1 +216 more	Copy number loss	not provided	GPathogenic
Select item 1789304	NM_004840.3(ARHGEF6):c.2301G>C (p.Glu767Asp)	ARHGEF6 (E767D +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	ABCB7, ABCD1 +790 more	Copy number loss	See cases	GPathogenic
Select item 1706520	GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1	NXF5, NXT2 +414 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 1703584	GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731)	ABCB7, ABCD1 +501 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 1458589	NC_000023.10:g.(?_135067662)_(136652229_?)del	ADGRG4, ARHGEF6 +10 more	Deletion	Heterotaxy, visceral, 1, X-linked +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 1341130	GRCh37/hg19 Xq26.3(chrX:135767906-136348117)x3	ARHGEF6, GPR101 +1 more	Copy number gain	not provided	GPathogenic
Select item 1336905	NM_004840.3(ARHGEF6):c.1587T>C (p.His529=)	ARHGEF6	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1306415	NM_004840.3(ARHGEF6):c.1363C>G (p.Gln455Glu)	ARHGEF6 (Q301E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305268	NM_004840.3(ARHGEF6):c.14A>G (p.Glu5Gly)	ARHGEF6 (E5G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1301873	NM_004840.3(ARHGEF6):c.2152G>A (p.Val718Ile)	ARHGEF6 (V564I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1297743	NM_004840.3(ARHGEF6):c.2093T>C (p.Ile698Thr)	ARHGEF6 (I544T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1198586	NM_004840.3(ARHGEF6):c.1343G>A (p.Gly448Glu)	ARHGEF6 (G294E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1194066	NM_004840.3(ARHGEF6):c.692G>A (p.Gly231Glu)	ARHGEF6 (G231E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	KLHL34, KLHL4 +818 more	Copy number loss	not provided	GPathogenic
Select item 1028305	NM_004840.3(ARHGEF6):c.2024G>T (p.Gly675Val)	ARHGEF6 (G521V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 46 +1 more	GUncertain significance
Select item 1028304	NM_004840.3(ARHGEF6):c.1769G>A (p.Ser590Asn)	ARHGEF6 (S436N +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 46	GUncertain significance
Select item 992648	GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3	CPXCR1, GABRE +509 more	Copy number gain	not provided	GPathogenic
Select item 983156	GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3	ARMCX4, CXorf51B +513 more	Copy number gain	See cases	GPathogenic
Select item 979836	GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1	ABCD1, ACSL4 +387 more	Copy number loss	not provided	GPathogenic
Select item 975880	NM_004840.3(ARHGEF6):c.2080G>A (p.Glu694Lys)	ARHGEF6 (E540K +1 more)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GUncertain significance
Select item 975183	NM_004840.3(ARHGEF6):c.1387T>C (p.Cys463Arg)	ARHGEF6 (C309R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 931016	NM_004840.3(ARHGEF6):c.1006G>A (p.Ala336Thr)	ARHGEF6 (A182T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 916135	GRCh37/hg19 Xq25-28(chrX:122132166-155097214)	APLN, ABCD1 +221 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 871950	NM_004840.3(ARHGEF6):c.1549del (p.Glu517fs)	ARHGEF6 (E363fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 816368	GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1	ABCD1, ACSL4 +398 more	Copy number loss	not provided	GPathogenic
Select item 816364	GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1	ABCD1, ACSL4 +410 more	Copy number loss	not provided	GPathogenic
Select item 807826	NM_004840.3(ARHGEF6):c.1730G>A (p.Arg577Gln)	ARHGEF6 (R577Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 807825	NM_004840.3(ARHGEF6):c.2067_2069del (p.Leu690del)	ARHGEF6 (L690del +1 more)	Deletion (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 807824	NM_004840.3(ARHGEF6):c.2298C>T (p.Gly766=)	ARHGEF6	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 789871	NM_004840.3(ARHGEF6):c.2268T>C (p.Leu756=)	ARHGEF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 771624	NM_004840.3(ARHGEF6):c.1719C>T (p.Thr573=)	ARHGEF6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 769329	NM_004840.3(ARHGEF6):c.2215C>A (p.Leu739Met)	ARHGEF6 (L585M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 722167	NM_004840.3(ARHGEF6):c.662-12dup	ARHGEF6	Duplication (intron variant)	not provided	GLikely benign
Select item 702565	NM_004840.3(ARHGEF6):c.856C>T (p.Leu286=)	ARHGEF6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 697653	NM_004840.3(ARHGEF6):c.1502C>T (p.Thr501Met)	ARHGEF6 (T347M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 688406	GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1	ABCD1, ACTRT1 +220 more	Copy number loss	not provided	GPathogenic
Select item 688137	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	ARHGAP36, ARHGAP4 +818 more	Copy number loss	not provided	GPathogenic
Select item 687519	GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1	AWAT1, AWAT2 +524 more	Copy number loss	not provided	GUncertain significance
Select item 687132	GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1	ABCD1, ACTRT1 +262 more	Copy number loss	not provided	GPathogenic
Select item 686250	GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1	ABCD1, ACSL4 +320 more	Copy number loss	not provided	GPathogenic
Select item 685566	GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1	AWAT2, BCAP31 +502 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 684964	GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1	AIFM1, CXorf51A +389 more	Copy number loss	not provided	GPathogenic
Select item 626291	Single allele	AKAP14, CCDC22 +733 more	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 625854	GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1	ABCD1, ACTRT1 +221 more	Copy number loss	Premature ovarian insufficiency	GLikely pathogenic
Select item 625671	GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945)	ABCD1, ADGRG4 +160 more	Copy number gain	not provided	GPathogenic
Select item 564898	GRCh37/hg19 Xq25-26.3(chrX:126759247-135790885)x1	ACTRT1, CT45A3 +62 more	Copy number loss	not provided	GPathogenic
Select item 564897	GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1	ABCD1, ACTRT1 +214 more	Copy number loss	not provided	GPathogenic
Select item 564891	GRCh37/hg19 Xq24-27.1(chrX:120777368-139345946)x1	CT45A3, UTP14A +79 more	Copy number loss	not provided	GPathogenic
Select item 564888	GRCh37/hg19 Xq24-27.1(chrX:117998704-140159954)x3	ACTRT1, ADGRG4 +122 more	Copy number gain	not provided	GPathogenic
Select item 564884	GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1	FMR1-AS1, FMR1NB +297 more	Copy number loss	not provided	GPathogenic
Select item 564874	GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1	ABCD1, ACSL4 +385 more	Copy number loss	not provided	GPathogenic
Select item 564868	GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1	ABCD1, ACSL4 +390 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 514426	NM_004840.3(ARHGEF6):c.1946-3C>T	ARHGEF6	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 506651	NM_004840.3(ARHGEF6):c.1768A>C (p.Ser590Arg)	ARHGEF6 (S590R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 500890	NM_004840.3(ARHGEF6):c.1203T>A (p.His401Gln)	ARHGEF6 (H401Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 488014	Single allele	ARSF, CFAP47 +2632 more	Duplication	Autism +1 more	GPathogenic
Select item 451586	NM_004840.3(ARHGEF6):c.1943A>G (p.Lys648Arg)	ARHGEF6 (K648R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 446067	NM_004840.3(ARHGEF6):c.891G>T (p.Gln297His)	ARHGEF6 (Q297H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 445824	NM_004840.3(ARHGEF6):c.334+7C>T	ARHGEF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 443974	GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731)	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic

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