ClinVar for Gene (Select 1678) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	ABCB7, ABCD1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3341073	NM_000061.3(BTK):c.1925C>T (p.Pro642Leu)	BTK, TIMM8A (P466L +2 more)	Single nucleotide variant (missense variant)	X-linked agammaglobulinemia	GLikely pathogenic
Select item 3337673	NM_004085.4(TIMM8A):c.239G>A (p.Arg80Gln)	TIMM8A (R80Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3246507	NC_000023.10:g.(?_100486637)_(100662891_?)del	TAF7L, BTK +5 more	Deletion	not provided	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 3062523	GRCh37/hg19 Xq22.1(chrX:100439132-100918059)	ARMCX1, ARMCX2 +12 more	Copy number gain	not specified	GUncertain significance
Select item 3062468	GRCh37/hg19 Xq13.1-22.1(chrX:68040342-100863081)	ABCB7, APOOL +121 more	Copy number gain	not specified	GPathogenic
Select item 3026310	NM_004085.4(TIMM8A):c.19TCC[1] (p.Ser8del)	TIMM8A (S8del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	CT47A5, NXF3 +488 more	Copy number gain	not provided	GPathogenic
Select item 3020920	NM_004085.4(TIMM8A):c.53A>G (p.Gln18Arg)	TIMM8A (Q18R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2980875	NM_004085.4(TIMM8A):c.226T>C (p.Phe76Leu)	TIMM8A (F76L)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2825134	NM_004085.4(TIMM8A):c.206G>A (p.Arg69His)	TIMM8A (R69H)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2808185	NM_004085.4(TIMM8A):c.219A>C (p.Thr73=)	TIMM8A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2732443	NM_004085.4(TIMM8A):c.153T>C (p.Pro51=)	TIMM8A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2685715	GRCh37/hg19 Xq21.31-25(chrX:91274467-126799984)x1	ACSL4, AGTR2 +175 more	Copy number loss	not provided	GPathogenic
Select item 2685000	GRCh37/hg19 Xq21.33-22.3(chrX:96349060-106950847)x3	ARL13A, ARMCX1 +80 more	Copy number gain	not provided	GPathogenic
Select item 2684996	GRCh37/hg19 Xq21.1-24(chrX:77212972-118576590)x3	ACSL4, AGTR2 +159 more	Copy number gain	not provided	GPathogenic
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2425021	NC_000023.10:g.(?_99551275)_(101097764_?)del	RPL36A, RPL36A-HNRNPH2 +25 more	Deletion	not provided	GPathogenic
Select item 2425020	NC_000023.10:g.(?_100601487)_(100662891_?)dup	BTK, GLA +3 more	Duplication	not provided	GUncertain significance
Select item 2422510	NC_000023.10:g.(?_100499986)_(100662891_?)del	BTK, DRP2 +5 more	Deletion	Fabry disease	GPathogenic
Select item 2422282	NC_000023.10:g.(?_99551275)_(101097764_?)dup	ARL13A, ARMCX1 +25 more	Duplication	Developmental and epileptic encephalopathy, 9 +1 more	GUncertain significance
Select item 2414675	NM_004085.4(TIMM8A):c.132+8G>A	TIMM8A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2183176	NM_004085.4(TIMM8A):c.270T>C (p.Val90=)	TIMM8A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2155890	NM_004085.4(TIMM8A):c.14C>T (p.Ser5Phe)	TIMM8A (S5F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1955656	NM_004085.4(TIMM8A):c.114G>C (p.Gln38His)	TIMM8A (Q38H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1908400	NM_004085.4(TIMM8A):c.18T>C (p.Ser6=)	TIMM8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1808673	GRCh37/hg19 Xq21.33-24(chrX:93805850-118913329)x1	ACSL4, AGTR2 +133 more	Copy number loss	not provided	GPathogenic
Select item 1778100	NM_004085.4(TIMM8A):c.168C>T (p.Asp56=)	TIMM8A	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1710513	GRCh37/hg19 Xq21.1-24(chrX:76794355-119282836)x3	CAPN6, CENPI +176 more	Copy number gain	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 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 1703101	NM_004085.4(TIMM8A):c.132+451C>T	TIMM8A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1703041	NM_004085.4(TIMM8A):c.223C>T (p.Gln75Ter)	TIMM8A (Q75*)	Single nucleotide variant (3 prime UTR variant +1 more)	Deafness dystonia syndrome	GPathogenic
Select item 1686260	NM_004085.4(TIMM8A):c.181del (p.Ala61fs)	TIMM8A (A61fs)	Deletion (3 prime UTR variant +1 more)	Deafness dystonia syndrome	GPathogenic
Select item 1656444	NM_004085.4(TIMM8A):c.66C>T (p.Phe22=)	TIMM8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1637030	NM_004085.4(TIMM8A):c.12C>T (p.Ser4=)	TIMM8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1624330	NM_004085.4(TIMM8A):c.103C>T (p.Leu35=)	TIMM8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1617249	NM_004085.4(TIMM8A):c.258A>G (p.Lys86=)	TIMM8A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1596085	NM_004085.4(TIMM8A):c.225G>A (p.Gln75=)	TIMM8A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1582552	NM_004085.4(TIMM8A):c.267A>G (p.Pro89=)	TIMM8A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1526832	GRCh37/hg19 Xq22.1(chrX:100450474-100639625)	BTK, DRP2 +2 more	Copy number loss	not specified	GPathogenic
Select item 1508125	NM_004085.4(TIMM8A):c.108_109delinsTT (p.His37Tyr)	TIMM8A (H37Y)	Indel (missense variant)	not provided	GUncertain significance
Select item 1428930	NC_000023.10:g.(?_100603501)_(100608996_?)del	BTK, TIMM8A	Deletion	not provided	GPathogenic
Select item 1375651	NC_000023.10:g.(?_99917153)_(100662891_?)dup	SYTL4, TAF7L +14 more	Duplication	Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked	GUncertain significance
Select item 1351579	NM_004085.4(TIMM8A):c.226T>G (p.Phe76Val)	TIMM8A (F76V)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	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 1340489	GRCh37/hg19 Xq22.1(chrX:99589130-102138180)x3	NXF2B, SYTL4 +38 more	Copy number gain	not provided	GUncertain significance
Select item 1312519	NC_000023.11:g.101345283_101347393del	TIMM8A	Deletion	Deafness dystonia syndrome	GPathogenic
Select item 1312518	NC_000023.10:g.100582860_100610076del	BTK, TIMM8A	Deletion	Deafness dystonia syndrome	GPathogenic
Select item 1312517	NC_000023.10:g.100580141_100619992del	BTK, TIMM8A	Deletion	Deafness dystonia syndrome	GPathogenic
Select item 1312516	NC_000023.10:g.100564340_100627836del	BTK, TIMM8A	Deletion	Deafness dystonia syndrome	GPathogenic
Select item 1303795	NM_004085.3(TIMM8A):c.133_135del	TIMM8A	Deletion (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1291410	NM_004085.4(TIMM8A):c.132+44C>T	TIMM8A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274773	NC_000023.11:g.101349188C>T	TIMM8A	Single nucleotide variant	not provided	GBenign
Select item 1273456	NM_004085.4(TIMM8A):c.133-194G>A	TIMM8A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1234516	NM_004085.4(TIMM8A):c.133-269T>C	TIMM8A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1220355	NM_004085.4(TIMM8A):c.251C>T (p.Thr84Ile)	TIMM8A (T84I)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign/Likely benign
Select item 1216251	NM_004085.4(TIMM8A):c.-72G>A	TIMM8A	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1214999	NM_004085.4(TIMM8A):c.-73T>A	TIMM8A	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1209858	GRCh37/hg19 Xq21.32-23(chrX:91829757-113050225)x1	BEX3, BEX4 +110 more	Copy number loss	Xq21.32q23 deletion	GPathogenic
Select item 1204508	NM_004085.4(TIMM8A):c.132+449G>C	TIMM8A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1193516	NM_004085.4(TIMM8A):c.216T>C (p.Asp72=)	TIMM8A	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 1185678	NM_004085.4(TIMM8A):c.232_233insCAAT (p.Leu78fs)	TIMM8A (L78fs)	Insertion (3 prime UTR variant +1 more)	Deafness dystonia syndrome	GLikely pathogenic
Select item 1185085	NM_004085.4(TIMM8A):c.66_67del (p.Ile23fs)	TIMM8A (I23fs)	Deletion (frameshift variant)	Deafness dystonia syndrome	GPathogenic
Select item 1182506	NM_004085.4(TIMM8A):c.132+50T>G	TIMM8A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	KLHL34, KLHL4 +818 more	Copy number loss	not provided	GPathogenic
Select item 1178826	NM_004085.4(TIMM8A):c.199G>A (p.Val67Ile)	TIMM8A (V67I)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 992648	GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3	CPXCR1, GABRE +509 more	Copy number gain	not provided	GPathogenic
Select item 987116	NM_004085.4(TIMM8A):c.133-1G>T	TIMM8A	Single nucleotide variant (3 prime UTR variant +1 more)	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 979829	GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1	ACSL4, ACTRT1 +201 more	Copy number loss	not provided	GPathogenic
Select item 940697	NM_004085.4(TIMM8A):c.133-2A>G	TIMM8A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 929951	NC_000023.11:g.(?_101346475)_(101348757_?)del	TIMM8A	Deletion	Deafness dystonia syndrome	GPathogenic
Select item 816373	GRCh37/hg19 Xq22.1(chrX:99910467-100704219)x2	ARL13A, ARMCX4 +16 more	Copy number gain	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 807886	GRCh37/hg19 Xq22.1(chrX:100183898-100809683)x4	ARL13A, ARMCX1 +12 more	Copy number gain	not provided	GUncertain significance
Select item 804062	NM_004085.4(TIMM8A):c.127T>C (p.Cys43Arg)	TIMM8A (C43R)	Single nucleotide variant (missense variant)	Deafness dystonia syndrome +1 more	GLikely pathogenic
Select item 740471	NM_004085.4(TIMM8A):c.90G>A (p.Gln30=)	TIMM8A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
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 685705	GRCh37/hg19 Xq22.1(chrX:99858358-100772721)x2	ARL13A, ARMCX4 +17 more	Copy number gain	not provided	GUncertain significance
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 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 513750	NM_004085.4(TIMM8A):c.252C>T (p.Thr84=)	TIMM8A	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 509980	NM_004085.4(TIMM8A):c.15C>T (p.Ser5=)	TIMM8A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 505119	NM_004085.4(TIMM8A):c.-8G>T	LOC130068494, TIMM8A	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 505064	NM_004085.4(TIMM8A):c.282C>A (p.Ser94Arg)	TIMM8A (S94R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance

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