ClinVar for Gene (Select 139212) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3372236	NM_173494.2(DNAAF6):c.499C>A (p.Leu167Ile)	DNAAF6 (L167I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	ABCB7, ABCD1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3272537	NM_173494.2(DNAAF6):c.233C>G (p.Pro78Arg)	DNAAF6 (P78R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3246496	NC_000023.10:g.(?_106456106)_(107464624_?)dup	ATG4A, COL4A6 +8 more	Duplication	not provided	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 3235400	NM_173494.2(DNAAF6):c.76G>A (p.Val26Ile)	DNAAF6 (V26I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3235399	NM_173494.2(DNAAF6):c.455A>T (p.Asn152Ile)	DNAAF6 (N152I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3235398	NM_173494.2(DNAAF6):c.373A>G (p.Ile125Val)	DNAAF6 (I125V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3062473	GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	ABCD1, ACSL4 +321 more	Copy number loss	not specified	GPathogenic
Select item 3035500	NM_173494.2(DNAAF6):c.351A>G (p.Arg117=)	DNAAF6	Single nucleotide variant (synonymous variant)	DNAAF6-related disorder	GLikely benign
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	CT47A4, ERCC6L +488 more	Copy number gain	not provided	GPathogenic
Select item 3004808	NM_173494.2(DNAAF6):c.146A>G (p.Tyr49Cys)	DNAAF6 (Y49C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997680	NM_173494.2(DNAAF6):c.384G>A (p.Gly128=)	DNAAF6	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2988744	NM_173494.2(DNAAF6):c.189T>C (p.Pro63=)	DNAAF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970368	NM_173494.2(DNAAF6):c.25G>C (p.Glu9Gln)	DNAAF6 (E9Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968371	NM_173494.2(DNAAF6):c.430-13T>C	DNAAF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964749	NM_173494.2(DNAAF6):c.423A>G (p.Glu141=)	DNAAF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962848	NM_173494.2(DNAAF6):c.203C>A (p.Pro68Gln)	DNAAF6 (P68Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2961979	NM_173494.2(DNAAF6):c.516-3del	DNAAF6	Deletion (intron variant)	not provided	GBenign
Select item 2902809	NM_173494.2(DNAAF6):c.154-10C>T	DNAAF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877708	NM_173494.2(DNAAF6):c.516-16T>C	DNAAF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2873440	NM_173494.2(DNAAF6):c.252T>C (p.Asn84=)	DNAAF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2856989	NM_173494.2(DNAAF6):c.430-17C>T	DNAAF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2841345	NM_173494.2(DNAAF6):c.472A>G (p.Ile158Val)	DNAAF6 (I158V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2778413	NM_173494.2(DNAAF6):c.429+1G>T	DNAAF6	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2770143	NM_173494.2(DNAAF6):c.130G>C (p.Glu44Gln)	DNAAF6 (E44Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2708214	NM_173494.2(DNAAF6):c.227-1G>A	DNAAF6	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2685760	GRCh37/hg19 Xq22.3(chrX:106205867-106810018)x2	DNAAF6, FRMPD3 +3 more	Copy number gain	not provided	GUncertain significance
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 2630743	NM_173494.2(DNAAF6):c.55C>T (p.Gln19Ter)	DNAAF6 (Q19*)	Single nucleotide variant (nonsense)	DNAAF6-related disorder	GUncertain significance
Select item 2506548	GRCh37/hg19 Xq22.3(chrX:105066840-106486528)	CLDN2, DNAAF6 +10 more	Copy number loss	Primary ciliary dyskinesia	GLikely pathogenic
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2434855	NM_173494.2(DNAAF6):c.125A>G (p.Glu42Gly)	DNAAF6 (E42G)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 36, X-linked	GUncertain significance
Select item 2424530	NC_000023.10:g.(?_106456106)_(106959200_?)dup	DNAAF6, FRMPD3 +2 more	Duplication	Charcot-Marie-Tooth Neuropathy X	GUncertain significance
Select item 2424529	NC_000023.10:g.(?_106046084)_(108868249_?)del	ATG4A, CLDN2 +19 more	Deletion	Charcot-Marie-Tooth Neuropathy X	GPathogenic
Select item 2191612	NM_173494.2(DNAAF6):c.309G>T (p.Met103Ile)	DNAAF6 (M103I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2187942	NM_173494.2(DNAAF6):c.429+7C>T	DNAAF6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2153378	NM_173494.2(DNAAF6):c.153+10T>C	DNAAF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2120640	NM_173494.2(DNAAF6):c.140C>A (p.Ser47Tyr)	DNAAF6 (S47Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2090365	NM_173494.2(DNAAF6):c.226+20A>T	DNAAF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2067201	NM_173494.2(DNAAF6):c.585T>C (p.Thr195=)	DNAAF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2059520	NM_173494.2(DNAAF6):c.471A>G (p.Gln157=)	DNAAF6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2047953	NM_173494.2(DNAAF6):c.154-3C>G	DNAAF6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2035339	NM_173494.2(DNAAF6):c.620A>C (p.Glu207Ala)	DNAAF6 (E207A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2025442	NM_173494.2(DNAAF6):c.217G>A (p.Glu73Lys)	DNAAF6 (E73K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2009530	NM_173494.2(DNAAF6):c.293C>G (p.Ala98Gly)	DNAAF6 (A98G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1947816	NM_173494.2(DNAAF6):c.187C>T (p.Pro63Ser)	DNAAF6 (P63S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1912051	NM_173494.2(DNAAF6):c.516-3dup	DNAAF6	Duplication (intron variant)	not provided	GBenign
Select item 1911664	NM_173494.2(DNAAF6):c.153+12C>A	DNAAF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1910068	NM_173494.2(DNAAF6):c.333-4del	DNAAF6	Deletion (intron variant)	not provided	GBenign
Select item 1900544	NM_173494.2(DNAAF6):c.234T>C (p.Pro78=)	DNAAF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1808914	GRCh37/hg19 Xq22.3(chrX:106420267-106625135)x3	DNAAF6, NUP62CL	Copy number gain	not provided	GUncertain significance
Select item 1808673	GRCh37/hg19 Xq21.33-24(chrX:93805850-118913329)x1	ACSL4, AGTR2 +133 more	Copy number loss	not provided	GPathogenic
Select item 1808513	GRCh37/hg19 Xq22.3(chrX:105730612-107162289)x3	CLDN2, DNAAF6 +11 more	Copy number gain	not provided	GUncertain significance
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 1705566	NM_173494.2(DNAAF6):c.430-1G>A	DNAAF6	Single nucleotide variant (splice acceptor variant)	Ciliary dyskinesia, primary, 36, X-linked	GLikely pathogenic
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 1683174	NM_173494.2(DNAAF6):c.590_598del (p.Thr197_Glu199del)	DNAAF6	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1683173	NM_173494.2(DNAAF6):c.439A>G (p.Lys147Glu)	DNAAF6 (K147E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1683172	NM_173494.2(DNAAF6):c.198T>G (p.Ile66Met)	DNAAF6 (I66M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1683171	NM_173494.2(DNAAF6):c.166T>C (p.Ser56Pro)	DNAAF6 (S56P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1683170	NM_173494.2(DNAAF6):c.154-8T>G	DNAAF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1683169	NM_173494.2(DNAAF6):c.53C>T (p.Ser18Phe)	DNAAF6 (S18F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1683168	NM_173494.2(DNAAF6):c.31A>C (p.Met11Leu)	DNAAF6 (M11L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1683167	NC_000023.10:g.(?_106456106)_(106486528_?)del	DNAAF6	Deletion	not provided	GPathogenic
Select item 1683166	NC_000023.10:g.(?_106456106)_(106462219_?)del	DNAAF6	Deletion	not provided	GPathogenic
Select item 1526838	GRCh37/hg19 Xq22.2-23(chrX:103158718-111556067)	ACSL4, ALG13 +45 more	Copy number gain	not specified	GPathogenic
Select item 1526834	GRCh37/hg19 Xq22.1-24(chrX:101982475-116885339)	ACSL4, AGTR2 +77 more	Copy number gain	not specified	GPathogenic
Select item 1344598	NM_173494.2(DNAAF6):c.332+1G>A	DNAAF6	Single nucleotide variant (splice donor variant)	Primary ciliary dyskinesia	GLikely pathogenic
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 1328107	GRCh37/hg19 Xq22.3-23(chrX:104782507-112949573)x2	ACSL4, ALG13 +39 more	Copy number gain	not provided	GLikely pathogenic
Select item 1271858	NM_173494.2(DNAAF6):c.332+68C>T	DNAAF6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269675	NM_173494.2(DNAAF6):c.429+117A>G	DNAAF6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253683	NM_173494.2(DNAAF6):c.*317C>T	DNAAF6	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1232259	NM_173494.2(DNAAF6):c.515+145C>T	DNAAF6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232186	NM_173494.2(DNAAF6):c.-3-183G>C	DNAAF6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227861	NM_173494.2(DNAAF6):c.154-91T>G	DNAAF6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227441	NM_173494.2(DNAAF6):c.516-104dup	DNAAF6	Duplication (intron variant)	not provided	GBenign
Select item 1220603	NM_173494.2(DNAAF6):c.332+206C>T	DNAAF6	Single nucleotide variant (intron variant)	not provided	GBenign
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 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	KLHL34, KLHL4 +818 more	Copy number loss	not provided	GPathogenic
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 980314	GRCh37/hg19 Xq22.3(chrX:106479615-107575960)x3	TSC22D3, VSIG1 +8 more	Copy number gain	not provided	GUncertain significance
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 917481	NM_173494.2(DNAAF6):c.290G>T (p.Gly97Val)	DNAAF6 (G97V)	Single nucleotide variant (missense variant)	Ciliary dyskinesia, primary, 36, X-linked	GPathogenic
Select item 870123	NM_173494.2(DNAAF6):c.322_332del (p.Glu108Valfs)	DNAAF6	Deletion (splice donor variant)	Ciliary dyskinesia, primary, 36, X-linked	GPathogenic
Select item 816378	GRCh37/hg19 Xq22.3-23(chrX:105973323-110619655)x1	ACSL4, AMMECR1 +28 more	Copy number loss	not provided	GLikely pathogenic
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 771062	NM_173494.2(DNAAF6):c.244G>A (p.Glu82Lys)	DNAAF6 (E82K)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign

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