ClinVar for MedGen (Select 347179) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 214

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Bardet-Biedl syndrome 3 +1 more	GLikely benign
Select item 2947847	NM_001278293.3(ARL6):c.360C>T (p.His120=)	ARL6	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 3 +1 more	GLikely benign
Select item 2947776	NM_001278293.3(ARL6):c.186-5T>G	ARL6	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 3 +1 more	GLikely benign
Select item 2947106	NM_001278293.3(ARL6):c.255-16T>C	ARL6	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 3 +1 more	GLikely benign
Select item 2945677	NM_001278293.3(ARL6):c.124-16G>T	ARL6	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 3 +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)	Bardet-Biedl syndrome 3 +1 more	GPathogenic
Select item 2942834	NM_001278293.3(ARL6):c.406_409del (p.Asp136fs)	ARL6 (D136fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 3 +1 more	GPathogenic
Select item 2942483	NM_001278293.3(ARL6):c.129A>G (p.Gln43=)	ARL6	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 3 +1 more	GLikely benign
Select item 2941450	NM_001278293.3(ARL6):c.350-7_350-6del	ARL6	Microsatellite (intron variant)	Retinitis pigmentosa 55 +1 more	GLikely benign
Select item 2940871	NM_001278293.3(ARL6):c.228C>A (p.Tyr76Ter)	ARL6 (Y76*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 55 +1 more	GPathogenic
Select item 2940728	NM_001278293.3(ARL6):c.76G>T (p.Asp26Tyr)	ARL6 (D26Y)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 55 +1 more	GUncertain significance
Select item 2940484	NM_001278293.3(ARL6):c.255-15C>A	ARL6	Single nucleotide variant (intron variant)	Retinitis pigmentosa 55 +1 more	GLikely benign
Select item 2940471	NM_001278293.3(ARL6):c.255-7del	ARL6	Deletion (intron variant)	Retinitis pigmentosa 55 +1 more	GLikely benign
Select item 2940374	NM_001278293.3(ARL6):c.350-9C>T	ARL6	Single nucleotide variant (intron variant)	Retinitis pigmentosa 55 +1 more	GLikely benign
Select item 2940294	NM_001278293.3(ARL6):c.349+19G>A	ARL6	Single nucleotide variant (intron variant)	Retinitis pigmentosa 55 +1 more	GLikely benign
Select item 2939899	NM_001278293.3(ARL6):c.384T>C (p.Phe128=)	ARL6	Single nucleotide variant (non-coding transcript variant +1 more)	Retinitis pigmentosa 55 +1 more	GLikely benign
Select item 2938999	NM_001278293.3(ARL6):c.414G>C (p.Val138=)	ARL6	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 55 +1 more	GLikely benign
Select item 2938822	NM_001278293.3(ARL6):c.350-20A>G	ARL6	Single nucleotide variant (intron variant)	Retinitis pigmentosa 55 +1 more	GLikely benign
Select item 2938351	NM_001278293.3(ARL6):c.254+7A>G	ARL6	Single nucleotide variant (intron variant)	Retinitis pigmentosa 55 +1 more	GLikely benign
Select item 2938341	NM_001278293.3(ARL6):c.330T>C (p.Asp110=)	ARL6	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 55 +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)	Retinitis pigmentosa 55 +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)	Retinitis pigmentosa 55 +1 more	GLikely benign
Select item 2928646	NM_001278293.3(ARL6):c.474T>C (p.His158=)	ARL6	Single nucleotide variant (synonymous 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 (non-coding transcript 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 (intron variant +1 more)	Bardet-Biedl syndrome 3 +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)	Bardet-Biedl syndrome 3 +1 more	GLikely benign
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 2427562	NC_000003.11:g.(?_97486952)_(97510690_?)dup	ARL6	Duplication	Bardet-Biedl syndrome 3 +1 more	GUncertain significance
Select item 2427561	NC_000003.11:g.(?_97486952)_(97487094_?)dup	ARL6	Duplication	Bardet-Biedl syndrome 3 +1 more	GUncertain significance
Select item 2203226	NM_001278293.3(ARL6):c.255A>G (p.Lys85=)	ARL6	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 3 +1 more	GUncertain significance
Select item 2199171	NM_001278293.3(ARL6):c.150A>C (p.Thr50=)	ARL6	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 3 +1 more	GLikely benign
Select item 2197675	NM_001278293.3(ARL6):c.123+19T>G	ARL6	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 3 +1 more	GLikely benign
Select item 2195012	NM_001278293.3(ARL6):c.254+12T>A	ARL6	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 3 +1 more	GLikely benign
Select item 2188643	NM_001278293.3(ARL6):c.152T>C (p.Ile51Thr)	ARL6 (I51T)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 3 +1 more	GUncertain significance
Select item 2173675	NM_001278293.3(ARL6):c.535+16C>A	ARL6	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 3 +1 more	GLikely benign
Select item 2165149	NM_001278293.3(ARL6):c.468C>A (p.Pro156=)	ARL6	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 55 +1 more	GLikely benign
Select item 2163356	NM_001278293.3(ARL6):c.480-16A>G	ARL6	Single nucleotide variant (non-coding transcript variant +1 more)	Bardet-Biedl syndrome 3 +1 more	GLikely benign
Select item 2148212	NM_001278293.3(ARL6):c.296G>A (p.Arg99Lys)	ARL6 (R99K)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 3 +1 more	GUncertain significance
Select item 2139246	NM_001278293.3(ARL6):c.409G>T (p.Ala137Ser)	ARL6 (A137S)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 55 +1 more	GUncertain significance
Select item 2125624	NM_001278293.3(ARL6):c.235C>T (p.Leu79Phe)	ARL6 (L79F)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 3 +1 more	GUncertain significance
Select item 2119535	NM_001278293.3(ARL6):c.432T>C (p.Ser144=)	ARL6	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 3 +1 more	GLikely benign
Select item 2115311	NM_001278293.3(ARL6):c.107A>G (p.Lys36Arg)	ARL6 (K36R)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 55 +1 more	GUncertain significance
Select item 2115026	NM_001278293.3(ARL6):c.127C>T (p.Gln43Ter)	ARL6 (Q43*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 3 +1 more	GPathogenic
Select item 2114465	NM_001278293.3(ARL6):c.521T>C (p.Val174Ala)	ARL6 (V174A)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa 55 +1 more	GUncertain significance
Select item 2112108	NM_001278293.3(ARL6):c.140T>C (p.Ile47Thr)	ARL6 (I47T)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 3 +1 more	GUncertain significance
Select item 2108124	NM_001278293.3(ARL6):c.350-14_350-12del	ARL6	Deletion (intron variant)	Bardet-Biedl syndrome 3 +1 more	GLikely benign
Select item 2102573	NM_001278293.3(ARL6):c.262C>T (p.Gln88Ter)	ARL6 (Q88*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 3 +1 more	GPathogenic
Select item 2098982	NM_001278293.3(ARL6):c.350-2A>C	ARL6	Single nucleotide variant (splice acceptor variant)	Bardet-Biedl syndrome 3 +1 more	GLikely pathogenic
Select item 2096172	NM_001278293.3(ARL6):c.320A>G (p.Glu107Gly)	ARL6 (E107G)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 3 +1 more	GUncertain significance
Select item 2088978	NM_001278293.3(ARL6):c.4G>C (p.Gly2Arg)	ARL6 (G2R)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 55 +1 more	GUncertain significance
Select item 2071999	NM_001278293.3(ARL6):c.469del (p.Trp157fs)	ARL6 (W157fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 55 +1 more	GPathogenic
Select item 2067996	NM_001278293.3(ARL6):c.185+15C>T	ARL6	Single nucleotide variant (intron variant)	Retinitis pigmentosa 55 +1 more	GLikely benign
Select item 2066024	NM_001278293.3(ARL6):c.124-13T>G	ARL6	Single nucleotide variant (intron variant)	Retinitis pigmentosa 55 +1 more	GLikely benign
Select item 2063099	NM_001278293.3(ARL6):c.141C>T (p.Ile47=)	ARL6	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 55 +1 more	GLikely benign
Select item 2042834	NM_001278293.3(ARL6):c.308T>C (p.Val103Ala)	ARL6 (V103A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2040498	NM_001278293.3(ARL6):c.52G>A (p.Val18Ile)	ARL6 (V18I)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2022643	NM_001278293.3(ARL6):c.300A>G (p.Leu100=)	ARL6	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 3 +1 more	GLikely benign
Select item 2008097	NM_001278293.3(ARL6):c.350-6T>G	ARL6	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 3 +1 more	GLikely benign
Select item 1984359	NM_001278293.3(ARL6):c.221G>A (p.Gly74Glu)	ARL6 (G74E)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 3 +1 more	GUncertain significance

<< First< Prev

Page of 3