ARL6[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	LOC129937446, LOC129937447 +1343 more	Copy number gain	See cases	GPathogenic
Select item 155192	GRCh38/hg38 3q11.1-13.11(chr3:93819623-103888749)x3	ABI3BP, ADGRG7 +171 more	Copy number gain	See cases	GLikely pathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ADGRG7, ABHD10 +430 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	ALCAM, BTLA +637 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	ABHD10, ABI3BP +681 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 153906	GRCh38/hg38 3q11.2(chr3:97180221-97779365)x1	ARL6, EPHA6	Copy number loss	See cases	GUncertain significance
Select item 144866	GRCh38/hg38 3q11.2(chr3:97602099-97893838)x3	ARL6, CRYBG3 +2 more	Copy number gain	See cases	GUncertain significance
Select item 902482	NM_177976.3(ARL6):c.-375C>T	ARL6	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 902483	NM_177976.3(ARL6):c.-371A>G	ARL6	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 346936	NM_001278293.3(ARL6):c.-240C>T	ARL6	Single nucleotide variant (5 prime UTR variant +1 more)	Retinitis Pigmentosa, Recessive +1 more	GLikely benign
Select item 346937	NM_001278293.3(ARL6):c.-207G>A	ARL6	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 3 +1 more	GUncertain significance
Select item 346938	NM_001278293.3(ARL6):c.-146T>C	ARL6	Single nucleotide variant (5 prime UTR variant +1 more)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 346939	NM_001278293.3(ARL6):c.-137A>C	ARL6	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 3 +1 more	GUncertain significance
Select item 346940	NM_001278293.3(ARL6):c.-71C>G	ARL6	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 3 +1 more	GUncertain significance
Select item 346941	NM_001278293.3(ARL6):c.-27-1461A>T	ARL6	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 3 +1 more	GConflicting classifications of pathogenicity
Select item 1803838	NM_001278293.3(ARL6):c.-27-3C>T	ARL6	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 3	GUncertain significance
Select item 1446585	NM_001278293.3(ARL6):c.1A>G (p.Met1Val)	ARL6 (M1V)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome 3 +1 more	GPathogenic
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 1075539	NM_001278293.3(ARL6):c.4G>T (p.Gly2Ter)	ARL6 (G2*)	Single nucleotide variant (nonsense +1 more)	Bardet-Biedl syndrome 1 +2 more	GPathogenic
Select item 1346437	NM_001278293.3(ARL6):c.17G>C (p.Arg6Thr)	ARL6 (R6T)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 55 +1 more	GUncertain significance
Select item 1003434	NM_001278293.3(ARL6):c.17G>A (p.Arg6Lys)	ARL6 (R6K)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 3 +1 more	GUncertain significance
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 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 1406511	NM_001278293.3(ARL6):c.30G>C (p.Leu10Phe)	ARL6 (L10F)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 3 +1 more	GUncertain significance
Select item 1376159	NM_001278293.3(ARL6):c.33T>A (p.Leu11=)	ARL6	Single nucleotide variant (synonymous variant +1 more)	ARL6-related condition +2 more	GLikely benign
Select item 838345	NM_001278293.3(ARL6):c.40AAG[2] (p.Lys16del)	ARL6 (K16del)	Microsatellite (inframe_deletion +1 more)	Retinitis pigmentosa 55 +1 more	GUncertain significance
Select item 1511428	NM_001278293.3(ARL6):c.43A>G (p.Lys15Glu)	ARL6 (K15E)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 55 +1 more	GUncertain significance
Select item 1024607	NM_001278293.3(ARL6):c.49G>A (p.Glu17Lys)	ARL6 (E17K)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa +4 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 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 1664173	NM_001278293.3(ARL6):c.63G>A (p.Leu21=)	ARL6	Single nucleotide variant (synonymous variant +1 more)	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 1478404	NM_001278293.3(ARL6):c.71G>A (p.Gly24Glu)	ARL6 (G24E)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 55 +1 more	GUncertain significance
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 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 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 2044	NM_001278293.3(ARL6):c.92C>G (p.Thr31Arg)	ARL6 (T31R)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 3 +1 more	GPathogenic
Select item 2042	NM_001278293.3(ARL6):c.92C>T (p.Thr31Met)	ARL6 (T31M)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 3 +3 more	GPathogenic
Select item 1083441	NM_001278293.3(ARL6):c.93G>A (p.Thr31=)	ARL6	Single nucleotide variant (synonymous variant +1 more)	ARL6-related condition +2 more	GLikely benign
Select item 1080954	NM_001278293.3(ARL6):c.96G>A (p.Thr32=)	ARL6	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 55 +1 more	GLikely benign
Select item 1316353	NM_001278293.3(ARL6):c.98T>C (p.Ile33Thr)	ARL6 (I33T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1113079	NM_001278293.3(ARL6):c.99C>T (p.Ile33=)	ARL6	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 55 +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 1379545	NM_001278293.3(ARL6):c.109C>G (p.Leu37Val)	ARL6 (L37V)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 55 +1 more	GUncertain significance
Select item 2629259	NM_001278293.3(ARL6):c.118T>G (p.Ser40Ala)	ARL6 (S40A)	Single nucleotide variant (missense variant +1 more)	ARL6-related condition	GUncertain significance
Select item 899728	NM_001278293.3(ARL6):c.121A>G (p.Asn41Asp)	ARL6 (N41D)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 3 +2 more	GUncertain significance
Select item 1513284	NM_001278293.3(ARL6):c.122A>G (p.Asn41Ser)	ARL6 (N41S)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 55 +1 more	GUncertain significance
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 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 2952871	NM_001278293.3(ARL6):c.123+19T>C	ARL6	Single nucleotide variant (intron variant)	Retinitis pigmentosa 55 +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 1281373	NM_001278293.3(ARL6):c.123+165C>T	ARL6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 431739	GRCh38/hg38 3q11.2(chr3:97779512-97864516)	ARL6, CRYBG3 +1 more	Copy number loss	Bardet-Biedl syndrome	GLikely pathogenic
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 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 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 2066024	NM_001278293.3(ARL6):c.124-13T>G	ARL6	Single nucleotide variant (intron variant)	Retinitis pigmentosa 55 +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 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 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 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 663541	NM_001278293.3(ARL6):c.140T>A (p.Ile47Asn)	ARL6 (I47N)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 3 +2 more	GUncertain significance
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 1517164	NM_001278293.3(ARL6):c.143T>A (p.Leu48His)	ARL6 (L48H)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 3 +3 more	GUncertain significance
Select item 1617692	NM_001278293.3(ARL6):c.147A>T (p.Pro49=)	ARL6	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 3 +1 more	GLikely benign
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 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 1918874	NM_001278293.3(ARL6):c.153A>C (p.Ile51=)	ARL6	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 3 +2 more	GLikely benign
Select item 1391657	NM_001278293.3(ARL6):c.166G>C (p.Glu56Gln)	ARL6 (E56Q)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 3 +1 more	GUncertain significance
Select item 1488689	NM_001278293.3(ARL6):c.168G>C (p.Glu56Asp)	ARL6 (E56D)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 3 +1 more	GUncertain significance
Select item 1297538	NM_001278293.3(ARL6):c.185+1G>A	ARL6	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 576069	NM_001278293.3(ARL6):c.185+1G>C	ARL6	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 55 +1 more	GPathogenic
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 1617467	NM_001278293.3(ARL6):c.185+9C>T	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 2067996	NM_001278293.3(ARL6):c.185+15C>T	ARL6	Single nucleotide variant (intron variant)	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 262014	NM_001278293.3(ARL6):c.186-18T>C	ARL6	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1318962	NM_001278293.3(ARL6):c.186-11T>G	ARL6	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 3 +2 more	GConflicting classifications of pathogenicity
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 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 700474	NM_001278293.3(ARL6):c.192A>G (p.Ser64=)	ARL6	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 3 +2 more	GBenign/Likely benign
Select item 1448664	NM_001278293.3(ARL6):c.197C>T (p.Thr66Ile)	ARL6 (T66I)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 3 +1 more	GUncertain significance
Select item 1104796	NM_001278293.3(ARL6):c.201G>C (p.Val67=)	ARL6	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 55 +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 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 1716906	NM_001278293.3(ARL6):c.215G>C (p.Gly72Ala)	ARL6 (G72A)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 55 +1 more	GUncertain significance
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
Select item 1014365	NM_001278293.3(ARL6):c.226T>C (p.Tyr76His)	ARL6 (Y76H)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 3 +1 more	GUncertain significance
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 1028925	NM_001278293.3(ARL6):c.228C>G (p.Tyr76Ter)	ARL6 (Y76*)	Single nucleotide variant (nonsense +1 more)	ARL6-related condition +2 more	GPathogenic/Likely pathogenic
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 1582768	NM_001278293.3(ARL6):c.249T>C (p.Tyr83=)	ARL6	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 55 +1 more	GLikely benign
Select item 809517	NM_001278293.3(ARL6):c.249T>A (p.Tyr83Ter)	ARL6 (Y83*)	Single nucleotide variant (nonsense +1 more)	not provided	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 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 2938351	NM_001278293.3(ARL6):c.254+7A>G	ARL6	Single nucleotide variant (intron variant)	Retinitis pigmentosa 55 +1 more	GLikely benign
Select item 1631033	NM_001278293.3(ARL6):c.254+8C>T	ARL6	Single nucleotide variant (intron variant)	Bardet-Biedl syndrome 3 +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

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