ClinVar for Gene (Select 84100) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3355042	NM_001278293.3(ARL6):c.273T>A (p.Ile91=)	ARL6	Single nucleotide variant (synonymous variant +1 more)	ARL6-related disorder	GLikely benign
Select item 3354108	NM_001278293.3(ARL6):c.456C>T (p.Ile152=)	ARL6	Single nucleotide variant (synonymous variant +1 more)	ARL6-related disorder	GLikely benign
Select item 3353932	NM_001278293.3(ARL6):c.55C>G (p.His19Asp)	ARL6 (H19D)	Single nucleotide variant (missense variant +1 more)	ARL6-related disorder	GUncertain significance
Select item 3353809	NM_001278293.3(ARL6):c.124-2A>C	ARL6	Single nucleotide variant (splice acceptor variant)	ARL6-related disorder	GLikely pathogenic
Select item 3353637	NM_001278293.3(ARL6):c.176A>G (p.Lys59Arg)	ARL6 (K59R)	Single nucleotide variant (missense variant +1 more)	ARL6-related disorder	GUncertain significance
Select item 3352912	NM_001278293.3(ARL6):c.298T>A (p.Leu100Ile)	ARL6 (L100I)	Single nucleotide variant (missense variant +1 more)	ARL6-related disorder	GUncertain significance
Select item 3352048	NM_001278293.3(ARL6):c.185+5T>C	ARL6	Single nucleotide variant (intron variant)	ARL6-related disorder	GLikely benign
Select item 3351604	NM_001278293.3(ARL6):c.426A>C (p.Lys142Asn)	ARL6 (K142N)	Single nucleotide variant (missense variant +1 more)	ARL6-related disorder	GUncertain significance
Select item 3350728	NM_001278293.3(ARL6):c.480-25A>G	ARL6	Single nucleotide variant (non-coding transcript variant +1 more)	ARL6-related disorder	GLikely benign
Select item 3350068	NM_001278293.3(ARL6):c.535+10A>G	ARL6	Single nucleotide variant (intron variant)	ARL6-related disorder	GLikely benign
Select item 3349516	NM_001278293.3(ARL6):c.137A>G (p.Asn46Ser)	ARL6 (N46S)	Single nucleotide variant (missense variant +1 more)	ARL6-related disorder	GUncertain significance
Select item 3349363	NM_001278293.3(ARL6):c.480-23G>A	ARL6	Single nucleotide variant (non-coding transcript variant +1 more)	ARL6-related disorder	GLikely benign
Select item 3348070	NM_001278293.3(ARL6):c.233A>G (p.Asn78Ser)	ARL6 (N78S)	Single nucleotide variant (missense variant +1 more)	ARL6-related disorder	GUncertain significance
Select item 3347806	NM_001278293.3(ARL6):c.54T>A (p.Val18=)	ARL6	Single nucleotide variant (synonymous variant +1 more)	ARL6-related disorder	GLikely benign
Select item 3346926	NM_001278293.3(ARL6):c.535+122A>C	ARL6	Single nucleotide variant (intron variant)	ARL6-related disorder	GUncertain significance
Select item 3345464	NM_001278293.3(ARL6):c.525C>T (p.Asp175=)	ARL6	Single nucleotide variant (synonymous variant +2 more)	ARL6-related disorder	GLikely benign
Select item 3345011	NM_001278293.3(ARL6):c.102T>G (p.Ile34Met)	ARL6 (I34M)	Single nucleotide variant (missense variant +1 more)	ARL6-related disorder	GUncertain significance
Select item 3315177	NM_001278293.3(ARL6):c.163A>G (p.Ile55Val)	ARL6 (I55V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3246909	NC_000003.11:g.(?_97498983)_(97499084_?)dup	ARL6	Duplication	Retinitis pigmentosa 55 +1 more	GLikely pathogenic
Select item 3246908	NC_000003.11:g.(?_97486952)_(97487094_?)del	ARL6	Deletion	Retinitis pigmentosa 55 +1 more	GPathogenic
Select item 3148905	GRCh37/hg19 3q11.2(chr3:96308168-98033912)x1	GABRR3, ARL6 +9 more	Copy number loss	See cases	GUncertain significance
Select item 3069201	NM_001278293.3(ARL6):c.255-2A>T	ARL6	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 55	GPathogenic
Select item 3062743	GRCh37/hg19 3q11.1-12.3(chr3:93519465-101464485)x3	ABI3BP, ADGRG7 +41 more	Copy number gain	not specified	GUncertain significance
Select item 3058599	NM_001278293.3(ARL6):c.473A>G (p.His158Arg)	ARL6 (H158R)	Single nucleotide variant (missense variant +1 more)	ARL6-related disorder	GUncertain significance
Select item 3042115	NM_001278293.3(ARL6):c.535+122A>G	ARL6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3027547	NM_001278293.3(ARL6):c.349+2T>C	ARL6	Single nucleotide variant (splice donor variant)	Retinal dystrophy	GLikely pathogenic
Select item 2953598	NM_001278293.3(ARL6):c.535+13del	ARL6	Deletion (intron variant)	Retinitis pigmentosa 55 +1 more	GBenign
Select item 2953098	NM_001278293.3(ARL6):c.480-20T>C	ARL6	Single nucleotide variant (non-coding transcript variant +1 more)	Retinitis pigmentosa 55 +1 more	GLikely benign
Select item 2952871	NM_001278293.3(ARL6):c.123+19T>C	ARL6	Single nucleotide variant (intron variant)	Retinitis pigmentosa 55 +1 more	GLikely benign
Select item 2952690	NM_001278293.3(ARL6):c.75A>G (p.Leu25=)	ARL6	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 55 +1 more	GLikely benign
Select item 2952626	NM_001278293.3(ARL6):c.254+1G>A	ARL6	Single nucleotide variant (non-coding transcript variant +1 more)	Retinitis pigmentosa 55 +1 more	GLikely pathogenic
Select item 2950809	NM_001278293.3(ARL6):c.252T>G (p.Tyr84Ter)	ARL6 (Y84*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 3 +1 more	GPathogenic
Select item 2950765	NM_001278293.3(ARL6):c.124-17T>C	ARL6	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 3 +1 more	GLikely benign
Select item 2950730	NM_001278293.3(ARL6):c.66C>A (p.Cys22Ter)	ARL6 (C22*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 3 +1 more	GPathogenic
Select item 2950585	NM_001278293.3(ARL6):c.479+14T>C	ARL6	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 3 +1 more	GLikely benign
Select item 2948643	NM_001278293.3(ARL6):c.24A>C (p.Ser8=)	ARL6	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 55 +1 more	GLikely benign
Select item 2947847	NM_001278293.3(ARL6):c.360C>T (p.His120=)	ARL6	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 55 +1 more	GLikely benign
Select item 2947776	NM_001278293.3(ARL6):c.186-5T>G	ARL6	Single nucleotide variant (intron variant)	Retinitis pigmentosa 55 +1 more	GLikely benign
Select item 2947106	NM_001278293.3(ARL6):c.255-16T>C	ARL6	Single nucleotide variant (intron variant)	Retinitis pigmentosa 55 +1 more	GLikely benign
Select item 2945677	NM_001278293.3(ARL6):c.124-16G>T	ARL6	Single nucleotide variant (intron variant)	Retinitis pigmentosa 55 +1 more	GLikely benign
Select item 2945426	NM_001278293.3(ARL6):c.124-16G>A	ARL6	Single nucleotide variant (intron variant)	Retinitis pigmentosa 55 +1 more	GLikely benign
Select item 2945213	NM_001278293.3(ARL6):c.298T>C (p.Leu100=)	ARL6	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 55 +1 more	GLikely benign
Select item 2945191	NM_001278293.3(ARL6):c.213A>T (p.Ser71=)	ARL6	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 55 +1 more	GLikely benign
Select item 2945158	NM_001278293.3(ARL6):c.28T>C (p.Leu10=)	ARL6	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 55 +1 more	GLikely benign
Select item 2944956	NM_001278293.3(ARL6):c.255-17T>G	ARL6	Single nucleotide variant (intron variant)	Retinitis pigmentosa 55 +1 more	GLikely benign
Select item 2944578	NM_001278293.3(ARL6):c.124-20C>G	ARL6	Single nucleotide variant (intron variant)	Retinitis pigmentosa 55 +1 more	GLikely benign
Select item 2944166	NM_001278293.3(ARL6):c.254+13G>A	ARL6	Single nucleotide variant (intron variant)	Retinitis pigmentosa 55 +1 more	GLikely benign
Select item 2944015	NM_001278293.3(ARL6):c.255-10C>T	ARL6	Single nucleotide variant (intron variant)	Retinitis pigmentosa 55 +1 more	GLikely benign
Select item 2943822	NM_001278293.3(ARL6):c.123+1G>A	ARL6	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 55 +1 more	GLikely pathogenic
Select item 2943163	NM_001278293.3(ARL6):c.188T>A (p.Leu63Ter)	ARL6 (L63*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 55 +1 more	GPathogenic
Select item 2942834	NM_001278293.3(ARL6):c.406_409del (p.Asp136fs)	ARL6 (D136fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 55 +1 more	GPathogenic
Select item 2942483	NM_001278293.3(ARL6):c.129A>G (p.Gln43=)	ARL6	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 55 +1 more	GLikely benign
Select item 2941450	NM_001278293.3(ARL6):c.350-7_350-6del	ARL6	Microsatellite (intron variant)	Bardet-Biedl syndrome 3 +1 more	GLikely benign
Select item 2940871	NM_001278293.3(ARL6):c.228C>A (p.Tyr76Ter)	ARL6 (Y76*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 3 +1 more	GPathogenic
Select item 2940728	NM_001278293.3(ARL6):c.76G>T (p.Asp26Tyr)	ARL6 (D26Y)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 3 +1 more	GUncertain significance
Select item 2940484	NM_001278293.3(ARL6):c.255-15C>A	ARL6	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 3 +1 more	GLikely benign
Select item 2940471	NM_001278293.3(ARL6):c.255-7del	ARL6	Deletion (intron variant)	Bardet-Biedl syndrome 3 +1 more	GLikely benign
Select item 2940374	NM_001278293.3(ARL6):c.350-9C>T	ARL6	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 3 +1 more	GLikely benign
Select item 2940294	NM_001278293.3(ARL6):c.349+19G>A	ARL6	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 3 +1 more	GLikely benign
Select item 2939899	NM_001278293.3(ARL6):c.384T>C (p.Phe128=)	ARL6	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 3 +1 more	GLikely benign
Select item 2938999	NM_001278293.3(ARL6):c.414G>C (p.Val138=)	ARL6	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 3 +1 more	GLikely benign
Select item 2938822	NM_001278293.3(ARL6):c.350-20A>G	ARL6	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 3 +1 more	GLikely benign
Select item 2938351	NM_001278293.3(ARL6):c.254+7A>G	ARL6	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 3 +1 more	GLikely benign
Select item 2938341	NM_001278293.3(ARL6):c.330T>C (p.Asp110=)	ARL6	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 3 +1 more	GLikely benign
Select item 2937389	NM_001278293.3(ARL6):c.255-5C>T	ARL6	Single nucleotide variant (intron variant)	Retinitis pigmentosa 55 +1 more	GLikely benign
Select item 2936931	NM_001278293.3(ARL6):c.349+7G>A	ARL6	Single nucleotide variant (intron variant)	Retinitis pigmentosa 55 +1 more	GLikely benign
Select item 2936746	NM_001278293.3(ARL6):c.267T>A (p.Ala89=)	ARL6	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 55 +1 more	GLikely benign
Select item 2936717	NM_001278293.3(ARL6):c.185+16C>T	ARL6	Single nucleotide variant (intron variant)	Retinitis pigmentosa 55 +1 more	GLikely benign
Select item 2936697	NM_001278293.3(ARL6):c.350-14A>G	ARL6	Single nucleotide variant (intron variant)	Retinitis pigmentosa 55 +1 more	GLikely benign
Select item 2935176	NM_001278293.3(ARL6):c.185+7C>A	ARL6	Single nucleotide variant (intron variant)	Retinitis pigmentosa 55 +1 more	GLikely benign
Select item 2934503	NM_001278293.3(ARL6):c.254+9A>C	ARL6	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 3 +1 more	GLikely benign
Select item 2933774	NM_001278293.3(ARL6):c.483T>C (p.Ala161=)	ARL6	Single nucleotide variant (synonymous variant +2 more)	Retinitis pigmentosa 55 +1 more	GLikely benign
Select item 2932752	NM_001278293.3(ARL6):c.536-15_536-12del	ARL6	Microsatellite (intron variant)	Bardet-Biedl syndrome 3 +1 more	GLikely benign
Select item 2932541	NM_001278293.3(ARL6):c.255-6A>T	ARL6	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 3 +1 more	GLikely benign
Select item 2932525	NM_001278293.3(ARL6):c.558A>G (p.Thr186=)	ARL6 (M191V)	Single nucleotide variant (synonymous variant +3 more)	Bardet-Biedl syndrome 3 +1 more	GLikely benign
Select item 2932404	NM_001278293.3(ARL6):c.336T>G (p.Leu112=)	ARL6	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 3 +1 more	GLikely benign
Select item 2932228	NM_001278293.3(ARL6):c.261C>G (p.Gly87=)	ARL6	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 3 +1 more	GLikely benign
Select item 2932170	NM_001278293.3(ARL6):c.480-13G>A	ARL6	Single nucleotide variant (non-coding transcript variant +1 more)	Bardet-Biedl syndrome 3 +1 more	GLikely benign
Select item 2930054	NM_001278293.3(ARL6):c.438G>A (p.Leu146=)	ARL6	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 3 +1 more	GLikely benign
Select item 2928646	NM_001278293.3(ARL6):c.474T>C (p.His158=)	ARL6	Single nucleotide variant (non-coding transcript variant +1 more)	Bardet-Biedl syndrome 3 +1 more	GLikely benign
Select item 2928272	NM_001278293.3(ARL6):c.123+12T>C	ARL6	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 3 +1 more	GLikely benign
Select item 2927124	NM_001278293.3(ARL6):c.185+15C>G	ARL6	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 3 +1 more	GLikely benign
Select item 2926946	NM_001278293.3(ARL6):c.327C>T (p.Leu109=)	ARL6	Single nucleotide variant (non-coding transcript variant +1 more)	Bardet-Biedl syndrome 3 +1 more	GLikely benign
Select item 2926744	NM_001278293.3(ARL6):c.81T>C (p.Asn27=)	ARL6	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 3 +1 more	GLikely benign
Select item 2925950	NM_001278293.3(ARL6):c.207C>T (p.Asp69=)	ARL6	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 3 +1 more	GLikely benign
Select item 2925804	NM_001278293.3(ARL6):c.480-15T>C	ARL6	Single nucleotide variant (non-coding transcript variant +1 more)	Retinitis pigmentosa 55 +1 more	GLikely benign
Select item 2924381	NM_001278293.3(ARL6):c.510G>A (p.Leu170=)	ARL6	Single nucleotide variant (synonymous variant +2 more)	Bardet-Biedl syndrome 3 +1 more	GLikely benign
Select item 2924286	NM_001278293.3(ARL6):c.126T>G (p.Ala42=)	ARL6	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 3 +1 more	GLikely benign
Select item 2923713	NM_001278293.3(ARL6):c.480-10T>A	ARL6	Single nucleotide variant (non-coding transcript variant +1 more)	Bardet-Biedl syndrome 3 +1 more	GLikely benign
Select item 2923172	NM_001278293.3(ARL6):c.350-18T>C	ARL6	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 3 +1 more	GLikely benign
Select item 2922183	NM_001278293.3(ARL6):c.61T>C (p.Leu21=)	ARL6	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 3 +1 more	GLikely benign
Select item 2921709	NM_001278293.3(ARL6):c.255-1_256del	ARL6	Deletion (splice acceptor variant)	Bardet-Biedl syndrome 3 +1 more	GLikely pathogenic
Select item 2921590	NM_001278293.3(ARL6):c.480-12A>T	ARL6	Single nucleotide variant (non-coding transcript variant +1 more)	Retinitis pigmentosa 55 +1 more	GLikely benign
Select item 2920654	NM_001278293.3(ARL6):c.377T>G (p.Leu126Ter)	ARL6 (L126*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 3	GPathogenic
Select item 2920653	NM_001278293.3(ARL6):c.214G>C (p.Gly72Arg)	ARL6 (G72R)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 3	GLikely pathogenic
Select item 2629259	NM_001278293.3(ARL6):c.118T>G (p.Ser40Ala)	ARL6 (S40A)	Single nucleotide variant (missense variant +1 more)	ARL6-related disorder	GUncertain significance
Select item 2604641	NM_001278293.3(ARL6):c.328G>C (p.Asp110His)	ARL6 (D110H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2584549	NM_001278293.3(ARL6):c.254+1371G>A	ARL6	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 3 +1 more	GUncertain significance
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 2501015	NC_000003.11:g.(97487075_97499002)_(97520087_?)del	ARL6	Deletion	Bardet-Biedl syndrome	GPathogenic

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