23568[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1184380	Single allele	SLC38A7, SLC6A2 +519 more	Duplication	not provided	GPathogenic
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LOC130059125, LOC130059126 +675 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 1696636	Single allele	IRX5, IRX6 +189 more	Deletion	not provided	GPathogenic
Select item 144256	GRCh38/hg38 16q12.2-21(chr16:55457477-63841622)x1	ADGRG1, ADGRG3 +244 more	Copy number loss	See cases	GPathogenic
Select item 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	LOC130059330, LOC130059331 +599 more	Copy number gain	See cases	GPathogenic
Select item 1479063	NM_012106.4(ARL2BP):c.6C>A (p.Asp2Glu)	ARL2BP (D2E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1406667	NM_012106.4(ARL2BP):c.6C>G (p.Asp2Glu)	ARL2BP (D2E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1490084	NM_012106.4(ARL2BP):c.7G>A (p.Ala3Thr)	ARL2BP (A3T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1444573	NM_012106.4(ARL2BP):c.14A>G (p.Glu5Gly)	ARL2BP (E5G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338170	NM_012106.4(ARL2BP):c.22_23del (p.Ser8fs)	ARL2BP (S8fs)	Microsatellite (frameshift variant)	Retinitis pigmentosa with or without situs inversus	GPathogenic
Select item 1420796	NM_012106.4(ARL2BP):c.22A>G (p.Ser8Gly)	ARL2BP (S8G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2270740	NM_012106.4(ARL2BP):c.27T>A (p.Phe9Leu)	ARL2BP (F9L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2577503	NM_012106.4(ARL2BP):c.33_36del (p.Phe13fs)	ARL2BP (F13fs)	Deletion (frameshift variant)	Retinitis pigmentosa	GPathogenic
Select item 3028366	NM_012106.4(ARL2BP):c.32T>C (p.Leu11Pro)	ARL2BP (L11P)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028367	NM_012106.4(ARL2BP):c.37_38del (p.Phe13fs)	ARL2BP (F13fs)	Deletion (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 812223	NM_012106.4(ARL2BP):c.38+2T>G	ARL2BP	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa	GPathogenic
Select item 2056374	NM_012106.4(ARL2BP):c.38+3G>C	ARL2BP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1554622	NM_012106.4(ARL2BP):c.38+12C>T	ARL2BP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2841983	NM_012106.4(ARL2BP):c.38+20C>T	ARL2BP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1912455	NM_012106.4(ARL2BP):c.39-14G>T	ARL2BP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 850967	NM_012106.4(ARL2BP):c.39-1G>C	ARL2BP	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1966347	NM_012106.4(ARL2BP):c.45C>T (p.Ser15=)	ARL2BP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1047827	NM_012106.4(ARL2BP):c.46G>T (p.Ala16Ser)	ARL2BP (A16S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1554397	NM_012106.4(ARL2BP):c.57A>G (p.Ala19=)	ARL2BP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1001458	NM_012106.4(ARL2BP):c.72G>A (p.Val24=)	ARL2BP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3028369	NM_012106.4(ARL2BP):c.74T>A (p.Val25Asp)	ARL2BP (V25D)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 1714536	NM_012106.4(ARL2BP):c.80A>G (p.Tyr27Cys)	ARL2BP (Y27C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2009705	NM_012106.4(ARL2BP):c.85G>A (p.Glu29Lys)	ARL2BP (E29K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1386353	NM_012106.4(ARL2BP):c.94A>G (p.Ile32Val)	ARL2BP (I32V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2116238	NM_012106.4(ARL2BP):c.97_98dup (p.Met33fs)	ARL2BP (M33fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1431047	NM_012106.4(ARL2BP):c.97A>G (p.Met33Val)	ARL2BP (M33V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1348378	NM_012106.4(ARL2BP):c.99G>A (p.Met33Ile)	ARL2BP (M33I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1054746	NM_012106.4(ARL2BP):c.100+4A>C	ARL2BP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1604760	NM_012106.4(ARL2BP):c.101-17del	ARL2BP	Deletion (intron variant)	not provided	GLikely benign
Select item 1064073	NM_012106.4(ARL2BP):c.101-7G>A	ARL2BP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 65473	NM_012106.4(ARL2BP):c.101-1G>C	ARL2BP	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa with or without situs inversus +2 more	GPathogenic
Select item 1095203	NM_012106.4(ARL2BP):c.105C>T (p.Asp35=)	ARL2BP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1500527	NM_012106.4(ARL2BP):c.106G>A (p.Glu36Lys)	ARL2BP (E36K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2162529	NM_012106.4(ARL2BP):c.120A>T (p.Leu40Phe)	ARL2BP (L40F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2115306	NM_012106.4(ARL2BP):c.121C>A (p.Gln41Lys)	ARL2BP (Q41K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 65474	NM_012106.4(ARL2BP):c.134T>G (p.Met45Arg)	ARL2BP (M45R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1525132	NM_012106.4(ARL2BP):c.137A>G (p.Asp46Gly)	ARL2BP (D46G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1373439	NM_012106.4(ARL2BP):c.139_143dup (p.Tyr48Ter)	ARL2BP (Y48*)	Duplication (nonsense)	not provided	GPathogenic
Select item 1081696	NM_012106.4(ARL2BP):c.138C>T (p.Asp46=)	ARL2BP	Single nucleotide variant (synonymous variant)	Retinal dystrophy +1 more	GLikely benign
Select item 2008345	NM_012106.4(ARL2BP):c.166G>A (p.Glu56Lys)	ARL2BP (E56K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1014509	NM_012106.4(ARL2BP):c.182T>C (p.Ile61Thr)	ARL2BP (I61T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1928800	NM_012106.4(ARL2BP):c.191del (p.Pro64fs)	ARL2BP (P64fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1040194	NM_012106.4(ARL2BP):c.190C>A (p.Pro64Thr)	ARL2BP (P64T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 861022	NM_012106.4(ARL2BP):c.206A>G (p.Tyr69Cys)	ARL2BP (Y69C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2770655	NM_012106.4(ARL2BP):c.207C>A (p.Tyr69Ter)	ARL2BP (Y69*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 732902	NM_012106.4(ARL2BP):c.207C>T (p.Tyr69=)	ARL2BP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 559501	NM_012106.4(ARL2BP):c.207+1G>T	ARL2BP	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa with or without situs inversus +1 more	GPathogenic
Select item 437946	NM_012106.4(ARL2BP):c.207+1G>A	ARL2BP	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 1950354	NM_012106.4(ARL2BP):c.207+5G>A	ARL2BP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2101784	NM_012106.4(ARL2BP):c.207+15A>C	ARL2BP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1928087	NM_012106.4(ARL2BP):c.207+15A>G	ARL2BP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2784282	NM_012106.4(ARL2BP):c.207+19C>T	ARL2BP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1519064	NM_012106.4(ARL2BP):c.208-3C>T	ARL2BP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2811446	NM_012106.4(ARL2BP):c.235G>T (p.Glu79Ter)	ARL2BP (E79*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1669583	NM_012106.4(ARL2BP):c.246G>A (p.Leu82=)	ARL2BP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1382495	NM_012106.4(ARL2BP):c.250C>T (p.Arg84Trp)	ARL2BP (R84W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 845738	NM_012106.4(ARL2BP):c.251G>A (p.Arg84Gln)	ARL2BP (R84Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 402395	NM_012106.4(ARL2BP):c.259G>A (p.Glu87Lys)	ARL2BP (E87K)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2828632	NM_012106.4(ARL2BP):c.261G>A (p.Glu87=)	ARL2BP	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1420494	NM_012106.4(ARL2BP):c.261G>C (p.Glu87Asp)	ARL2BP (E87D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1006216	NM_012106.4(ARL2BP):c.269T>A (p.Met90Lys)	ARL2BP (M90K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1064633	NM_012106.4(ARL2BP):c.293+5G>A	ARL2BP	Single nucleotide variant (intron variant)	not provided +1 more	GLikely pathogenic
Select item 1933809	NM_012106.4(ARL2BP):c.293+11C>T	ARL2BP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1525053	NM_012106.4(ARL2BP):c.294-17_342del	ARL2BP	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2998399	NM_012106.4(ARL2BP):c.294-17A>G	ARL2BP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1638300	NM_012106.4(ARL2BP):c.294-15C>T	ARL2BP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1655114	NM_012106.4(ARL2BP):c.294-9dup	ARL2BP	Duplication (intron variant)	not provided	GLikely benign
Select item 2130773	NM_012106.4(ARL2BP):c.294-9del	ARL2BP	Deletion (intron variant)	not provided	GLikely benign
Select item 1544021	NM_012106.4(ARL2BP):c.294-9C>T	ARL2BP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1116631	NM_012106.4(ARL2BP):c.294-8G>A	ARL2BP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3338167	NM_012106.4(ARL2BP):c.294-1G>C	ARL2BP	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa with or without situs inversus	GPathogenic
Select item 1059688	NM_012106.4(ARL2BP):c.299A>G (p.His100Arg)	ARL2BP (H100R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1636106	NM_012106.4(ARL2BP):c.312G>T (p.Val104=)	ARL2BP	Single nucleotide variant (synonymous variant)	Retinal dystrophy +1 more	GBenign/Likely benign
Select item 960871	NM_012106.4(ARL2BP):c.324A>G (p.Ile108Met)	ARL2BP (I108M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1082714	NM_012106.4(ARL2BP):c.327C>T (p.Phe109=)	ARL2BP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1367197	NM_012106.4(ARL2BP):c.328G>A (p.Asp110Asn)	ARL2BP (D110N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1941743	NM_012106.4(ARL2BP):c.331A>G (p.Met111Val)	ARL2BP (M111V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3315055	NM_012106.4(ARL2BP):c.337C>T (p.Leu113Phe)	ARL2BP (L113F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608727	NM_012106.4(ARL2BP):c.340A>C (p.Thr114Pro)	ARL2BP (T114P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1393149	NM_012106.4(ARL2BP):c.355C>G (p.Leu119Val)	ARL2BP (L119V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1958336	NM_012106.4(ARL2BP):c.376T>C (p.Leu126=)	ARL2BP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2295996	NM_012106.4(ARL2BP):c.379G>T (p.Asp127Tyr)	ARL2BP (D127Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1898069	NM_012106.4(ARL2BP):c.391-17G>A	ARL2BP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 728638	NM_012106.4(ARL2BP):c.391-10T>A	ARL2BP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1059401	NM_012106.4(ARL2BP):c.391-3T>C	ARL2BP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1505548	NM_012106.4(ARL2BP):c.394A>G (p.Lys132Glu)	ARL2BP (K132E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1674228	NM_012106.4(ARL2BP):c.405A>C (p.Arg135=)	ARL2BP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1903413	NM_012106.4(ARL2BP):c.406G>A (p.Gly136Arg)	ARL2BP (G136R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2118960	NM_012106.4(ARL2BP):c.442T>C (p.Leu148=)	ARL2BP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1489599	NM_012106.4(ARL2BP):c.449A>G (p.Lys150Arg)	ARL2BP (K150R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1504620	NM_012106.4(ARL2BP):c.455C>T (p.Ser152Phe)	ARL2BP (S152F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1523276	NM_012106.4(ARL2BP):c.458C>T (p.Ser153Phe)	ARL2BP (S153F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1345706	NM_012106.4(ARL2BP):c.477C>G (p.Asn159Lys)	ARL2BP (N159K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1550227	NM_012106.4(ARL2BP):c.480T>C (p.Asn160=)	ARL2BP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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