ARL17B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 57524	GRCh38/hg38 17q21.31(chr17:45575861-46274278)x1	ARL17B, CRHR1 +13 more	Copy number loss	See cases	GPathogenic
Select item 150568	GRCh38/hg38 17q21.31(chr17:45579327-46661960)x1	ARL17A, ARL17B +19 more	Copy number loss	See cases	GPathogenic
Select item 57050	GRCh38/hg38 17q21.31(chr17:45629520-46661960)x1	ARL17A, ARL17B +19 more	Copy number loss	See cases	GPathogenic
Select item 57467	GRCh38/hg38 17q21.31(chr17:46061147-46661960)x1	ARL17A, ARL17B +9 more	Copy number loss	See cases	GBenign
Select item 149987	GRCh38/hg38 17q21.31(chr17:46061149-46661960)x1	LRRC37A, ARL17A +9 more	Copy number loss	See cases	GLikely benign
Select item 157386	NC_000017.11:g.46084075_46290846dup	ARL17B, KANSL1 +4 more	Duplication	Large for gestational age	Gnot provided
Select item 157385	NC_000017.11:g.46084075_46502770dup	ARL17A, ARL17B +7 more	Duplication	Large for gestational age	Gnot provided
Select item 157388	NC_000017.11:g.46092442_46502770dup	ARL17A, ARL17B +7 more	Duplication	Large for gestational age +3 more	Gnot provided
Select item 157387	NC_000017.11:g.46092442_46290846dup	ARL17B, KANSL1 +4 more	Duplication	Large for gestational age +2 more	Gnot provided
Select item 154782	GRCh38/hg38 17q21.31(chr17:46094491-46275893)x3	ARL17B, KANSL1 +3 more	Copy number gain	See cases	GLikely benign
Select item 147150	GRCh38/hg38 17q21.31(chr17:46094551-46291496)x3	KANSL1-AS1, LOC126862577 +4 more	Copy number gain	See cases	GBenign
Select item 978035	NC_000017.11:g.46096853_46403941del	ARL17B, KANSL1 +6 more	Deletion	Koolen-de Vries syndrome	GPathogenic
Select item 32948	GRCh38/hg38 17q21.31(chr17:46111075-46661960)x1	ARL17A, ARL17B +9 more	Copy number loss	See cases	GBenign
Select item 146940	GRCh38/hg38 17q21.31(chr17:46111105-46291496)x1	ARL17B, KANSL1 +4 more	Copy number loss	See cases	GBenign
Select item 154554	GRCh38/hg38 17q21.31(chr17:46130519-46662118)x3	ARL17A, ARL17B +9 more	Copy number gain	See cases	GLikely benign
Select item 150266	GRCh38/hg38 17q21.31(chr17:46130519-46380808)x1	ARL17B, KANSL1 +6 more	Copy number loss	See cases	GBenign/Likely benign
Select item 150265	GRCh38/hg38 17q21.31(chr17:46130519-46380808)x3	ARL17B, KANSL1 +6 more	Copy number gain	See cases	GBenign/Likely benign
Select item 150183	GRCh38/hg38 17q21.31(chr17:46130519-46799417)x1	ARL17A, ARL17B +13 more	Copy number loss	See cases	GBenign
Select item 146760	GRCh38/hg38 17q21.31(chr17:46130519-46661960)x1	ARL17A, ARL17B +9 more	Copy number loss	See cases	GBenign/Likely benign
Select item 154310	GRCh38/hg38 17q21.31(chr17:46130611-46661960)x3	ARL17A, ARL17B +9 more	Copy number gain	See cases	GBenign
Select item 153070	GRCh38/hg38 17q21.31(chr17:46133397-46710558)x3	ARL17A, ARL17B +9 more	Copy number gain	See cases	GBenign
Select item 149785	GRCh38/hg38 17q21.31(chr17:46161863-46661960)x3	LRRC37A2, NSF +8 more	Copy number gain	See cases	GBenign
Select item 153006	GRCh38/hg38 17q21.31(chr17:46176989-46661960)x1	ARL17A, ARL17B +8 more	Copy number loss	See cases	GBenign
Select item 57297	GRCh38/hg38 17q21.31(chr17:46176989-46742963)x1	ARL17A, ARL17B +9 more	Copy number loss	See cases	GBenign
Select item 150439	GRCh38/hg38 17q21.31(chr17:46219761-46661960)x3	ARL17A, ARL17B +7 more	Copy number gain	See cases	GLikely benign
Select item 149443	GRCh38/hg38 17q21.31(chr17:46219761-46275893)x3	ARL17B, KANSL1 +1 more	Copy number gain	See cases	GLikely benign
Select item 146979	GRCh38/hg38 17q21.31(chr17:46247856-46681550)x1	ARL17A, ARL17B +6 more	Copy number loss	See cases	GBenign
Select item 147866	GRCh38/hg38 17q21.31(chr17:46273727-46661960)x3	ARL17A, ARL17B +6 more	Copy number gain	See cases	GBenign
Select item 144324	GRCh38/hg38 17q21.31(chr17:46273727-46661960)x1	ARL17A, ARL17B +6 more	Copy number loss	See cases	GBenign
Select item 149409	GRCh38/hg38 17q21.31(chr17:46273730-46661960)x1	ARL17A, ARL17B +6 more	Copy number loss	See cases	GLikely benign
Select item 2346316	NM_014834.4(LRRC37A):c.174G>C (p.Glu58Asp)	ARL17B, LRRC37A (E58D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478785	NM_014834.4(LRRC37A):c.2113A>G (p.Lys705Glu)	ARL17B, LRRC37A (K705E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291589	NM_014834.4(LRRC37A):c.2125C>G (p.Gln709Glu)	ARL17B, LRRC37A (Q709E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469485	NM_014834.4(LRRC37A):c.2158C>T (p.Pro720Ser)	ARL17B, LRRC37A (P720S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256810	NM_014834.4(LRRC37A):c.2189A>T (p.Lys730Ile)	ARL17B, LRRC37A (K730I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 403059	NM_014834.4(LRRC37A):c.2211A>G (p.Pro737=)	ARL17B, LRRC37A	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 3120580	NM_014834.4(LRRC37A):c.2299A>G (p.Thr767Ala)	ARL17B, LRRC37A (T767A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400819	NM_014834.4(LRRC37A):c.2320G>A (p.Ala774Thr)	ARL17B, LRRC37A (A774T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476709	NM_014834.4(LRRC37A):c.2323C>T (p.Pro775Ser)	ARL17B, LRRC37A (P775S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403208	NM_014834.4(LRRC37A):c.2335C>T (p.Arg779Trp)	ARL17B, LRRC37A (R779W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120581	NM_014834.4(LRRC37A):c.2338G>C (p.Val780Leu)	ARL17B, LRRC37A (V780L)	Single nucleotide variant (intron variant +1 more)	not specified	GLikely benign
Select item 3291586	NM_014834.4(LRRC37A):c.2345C>G (p.Thr782Ser)	ARL17B, LRRC37A (T782S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239672	NM_014834.4(LRRC37A):c.2360T>C (p.Leu787Pro)	ARL17B, LRRC37A (L787P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291588	NM_014834.4(LRRC37A):c.2381C>T (p.Pro794Leu)	ARL17B, LRRC37A (P794L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120582	NM_014834.4(LRRC37A):c.2387A>T (p.Glu796Val)	ARL17B, LRRC37A (E796V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305448	NM_014834.4(LRRC37A):c.2396C>G (p.Pro799Arg)	ARL17B, LRRC37A (P799R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120583	NM_014834.4(LRRC37A):c.2398G>A (p.Ala800Thr)	ARL17B, LRRC37A (A800T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2328855	NM_014834.4(LRRC37A):c.2471C>T (p.Ala824Val)	ARL17B, LRRC37A (A824V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403124	NM_014834.4(LRRC37A):c.2480G>A (p.Ser827Asn)	ARL17B, LRRC37A (S827N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2410289	NM_014834.4(LRRC37A):c.2572C>T (p.Pro858Ser)	ARL17B, LRRC37A (P858S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 149813	GRCh38/hg38 17q21.31(chr17:46297929-46710337)x3	ARL17A, ARL17B +5 more	Copy number gain	See cases	GLikely benign
Select item 147986	GRCh38/hg38 17q21.31(chr17:46304332-46685375)x3	ARL17A, ARL17B +5 more	Copy number gain	See cases	GBenign
Select item 2340673	NM_014834.4(LRRC37A):c.2771A>T (p.Lys924Ile)	ARL17B, LRRC37A (K924I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401920	NM_014834.4(LRRC37A):c.2803C>T (p.Pro935Ser)	ARL17B, LRRC37A (P935S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 150912	GRCh38/hg38 17q21.31(chr17:46322082-46685236)x1	ARL17A, ARL17B +5 more	Copy number loss	See cases	GLikely benign
Select item 150896	GRCh38/hg38 17q21.31(chr17:46322082-46661960)x3	ARL17A, ARL17B +5 more	Copy number gain	See cases	GLikely benign
Select item 150880	GRCh38/hg38 17q21.31(chr17:46322082-46661960)x3	ARL17A, ARL17B +5 more	Copy number gain	See cases	GLikely benign
Select item 2550593	NM_014834.4(LRRC37A):c.2917C>A (p.His973Asn)	ARL17B, LRRC37A (H973N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253177	NM_014834.4(LRRC37A):c.2923C>A (p.Pro975Thr)	ARL17B, LRRC37A (P975T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120584	NM_014834.4(LRRC37A):c.2993C>G (p.Thr998Arg)	LRRC37A, ARL17B (T998R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545898	NM_014834.4(LRRC37A):c.3023T>A (p.Ile1008Asn)	ARL17B, LRRC37A (I1008N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283761	NM_014834.4(LRRC37A):c.3350T>C (p.Ile1117Thr)	LRRC37A, ARL17B (I1117T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527952	NM_014834.4(LRRC37A):c.3484C>G (p.Gln1162Glu)	LRRC37A, ARL17B (Q1162E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475403	NM_014834.4(LRRC37A):c.3557G>A (p.Ser1186Asn)	ARL17B, LRRC37A (S1186N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471980	NM_014834.4(LRRC37A):c.3604G>A (p.Glu1202Lys)	ARL17B, LRRC37A (E1202K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2286294	NM_014834.4(LRRC37A):c.3619A>G (p.Thr1207Ala)	ARL17B, LRRC37A (T1207A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286296	NM_014834.4(LRRC37A):c.3620C>G (p.Thr1207Arg)	LRRC37A, ARL17B (T1207R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2303347	NM_014834.4(LRRC37A):c.3663G>C (p.Gln1221His)	ARL17B, LRRC37A (Q1221H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291585	NM_014834.4(LRRC37A):c.3691G>A (p.Val1231Ile)	ARL17B, LRRC37A (V1231I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120585	NM_014834.4(LRRC37A):c.3730G>A (p.Ala1244Thr)	ARL17B, LRRC37A (A1244T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303268	NM_014834.4(LRRC37A):c.3799C>A (p.Gln1267Lys)	ARL17B, LRRC37A (Q1267K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120586	NM_014834.4(LRRC37A):c.3890C>G (p.Pro1297Arg)	ARL17B, LRRC37A (P1297R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120587	NM_014834.4(LRRC37A):c.4001G>A (p.Ser1334Asn)	ARL17B, LRRC37A (S1334N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487748	NM_014834.4(LRRC37A):c.4100C>A (p.Pro1367His)	ARL17B, LRRC37A (P1367H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339420	NM_014834.4(LRRC37A):c.4114T>A (p.Phe1372Ile)	ARL17B, LRRC37A (F1372I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291591	NM_014834.4(LRRC37A):c.4221C>A (p.Asn1407Lys)	ARL17B, LRRC37A (N1407K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370286	NM_014834.4(LRRC37A):c.4235C>T (p.Thr1412Ile)	ARL17B, LRRC37A (T1412I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355037	NM_014834.4(LRRC37A):c.4241C>A (p.Ser1414Tyr)	ARL17B, LRRC37A (S1414Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120588	NM_014834.4(LRRC37A):c.4282G>T (p.Ala1428Ser)	LRRC37A, ARL17B (A1428S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369821	NM_014834.4(LRRC37A):c.4322C>G (p.Thr1441Ser)	ARL17B, LRRC37A (T1441S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255504	NM_014834.4(LRRC37A):c.4369G>A (p.Glu1457Lys)	ARL17B, LRRC37A (E1457K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2225915	NM_014834.4(LRRC37A):c.4394T>C (p.Leu1465Ser)	ARL17B, LRRC37A (L1465S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120589	NM_014834.4(LRRC37A):c.4400C>T (p.Ser1467Leu)	ARL17B, LRRC37A (S1467L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411538	NM_014834.4(LRRC37A):c.4483G>T (p.Ala1495Ser)	ARL17B, LRRC37A (A1495S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2549820	NM_014834.4(LRRC37A):c.4562C>T (p.Thr1521Ile)	ARL17B, LRRC37A (T1521I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120590	NM_014834.4(LRRC37A):c.4612A>G (p.Lys1538Glu)	ARL17B, LRRC37A (K1538E)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2205843	NM_014834.4(LRRC37A):c.4628C>T (p.Thr1543Met)	ARL17B, LRRC37A (T1543M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291590	NM_014834.4(LRRC37A):c.4778C>T (p.Thr1593Met)	ARL17B, LRRC37A (T1593M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3120591	NM_014834.4(LRRC37A):c.4791A>G (p.Ile1597Met)	ARL17B, LRRC37A (I1597M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291583	NM_014834.4(LRRC37A):c.4817G>A (p.Cys1606Tyr)	ARL17B, LRRC37A (C1606Y)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2385225	NM_014834.4(LRRC37A):c.4882T>C (p.Trp1628Arg)	ARL17B, LRRC37A (W1628R)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3291584	NM_014834.4(LRRC37A):c.4936C>G (p.Gln1646Glu)	ARL17B, LRRC37A (Q1646E)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2214284	NM_014834.4(LRRC37A):c.4940C>T (p.Pro1647Leu)	ARL17B, LRRC37A (P1647L)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3120592	NM_014834.4(LRRC37A):c.5072C>T (p.Thr1691Met)	ARL17B, LRRC37A (T1691M)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 147989	GRCh38/hg38 17q21.31(chr17:46347056-46661960)x1	ARL17A, ARL17B +4 more	Copy number loss	See cases	GBenign
Select item 150670	GRCh38/hg38 17q21.31(chr17:46348112-46661960)x3	ARL17A, ARL17B +4 more	Copy number gain	See cases	GLikely benign
Select item 2255116	NM_001039083.5(ARL17B):c.202G>T (p.Val68Phe)	ARL17B (V68F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266593	NM_001039083.5(ARL17B):c.149G>T (p.Gly50Val)	ARL17B (G50V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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