LRRC37A2[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 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 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 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 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 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 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 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 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 154577	GRCh38/hg38 17q21.31(chr17:46444520-46661960)x3	ARL17A, FAM215B +2 more	Copy number gain	See cases	GBenign
Select item 147119	GRCh38/hg38 17q21.31(chr17:46444520-46681549)x1	ARL17A, FAM215B +2 more	Copy number loss	See cases	GBenign
Select item 59307	GRCh38/hg38 17q21.31-21.32(chr17:46444520-46990403)x3	ARL17A, FAM215B +16 more	Copy number gain	See cases	GUncertain significance
Select item 57349	GRCh38/hg38 17q21.31(chr17:46444520-46742963)x1	FAM215B, ARL17A +3 more	Copy number loss	See cases	GBenign
Select item 3120595	NM_001006607.3(LRRC37A2):c.29T>C (p.Val10Ala)	ARL17A, LRRC37A2 (V10A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3120613	NM_001006607.3(LRRC37A2):c.50G>A (p.Arg17His)	ARL17A, LRRC37A2 (R17H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477060	NM_001006607.3(LRRC37A2):c.97C>G (p.Leu33Val)	ARL17A, LRRC37A2 (L33V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291595	NM_001006607.3(LRRC37A2):c.136C>T (p.Pro46Ser)	ARL17A, LRRC37A2 (P46S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511250	NM_001006607.3(LRRC37A2):c.205C>T (p.Arg69Trp)	ARL17A, LRRC37A2 (R69W)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3291593	NM_001006607.3(LRRC37A2):c.208G>A (p.Glu70Lys)	ARL17A, LRRC37A2 (E70K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360007	NM_001006607.3(LRRC37A2):c.260T>C (p.Leu87Pro)	ARL17A, LRRC37A2 (L87P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595820	NM_001006607.3(LRRC37A2):c.305C>T (p.Ser102Leu)	ARL17A, LRRC37A2 (S102L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2372484	NM_001006607.3(LRRC37A2):c.323C>A (p.Pro108Gln)	ARL17A, LRRC37A2 (P108Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291123	NM_001006607.3(LRRC37A2):c.448C>G (p.Leu150Val)	ARL17A, LRRC37A2 (L150V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120614	NM_001006607.3(LRRC37A2):c.596T>G (p.Leu199Arg)	ARL17A, LRRC37A2 (L199R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374942	NM_001006607.3(LRRC37A2):c.599G>A (p.Arg200Gln)	ARL17A, LRRC37A2 (R200Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408162	NM_001006607.3(LRRC37A2):c.710C>T (p.Ser237Leu)	ARL17A, LRRC37A2 (S237L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2299427	NM_001006607.3(LRRC37A2):c.740C>T (p.Pro247Leu)	ARL17A, LRRC37A2 (P247L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299426	NM_001006607.3(LRRC37A2):c.1979G>A (p.Arg660Gln)	ARL17A, LRRC37A2 (R660Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3291596	NM_001006607.3(LRRC37A2):c.2237C>G (p.Thr746Ser)	ARL17A, LRRC37A2 (T746S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547950	NM_001006607.3(LRRC37A2):c.2237C>T (p.Thr746Ile)	ARL17A, LRRC37A2 (T746I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493319	NM_001006607.3(LRRC37A2):c.2275C>T (p.Pro759Ser)	ARL17A, LRRC37A2 (P759S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120593	NM_001006607.3(LRRC37A2):c.2327G>A (p.Arg776His)	ARL17A, LRRC37A2 (R776H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2406699	NM_001006607.3(LRRC37A2):c.2329C>A (p.Pro777Thr)	ARL17A, LRRC37A2 (P777T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3291592	NM_001006607.3(LRRC37A2):c.2354G>A (p.Arg785Gln)	ARL17A, LRRC37A2 (R785Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409994	NM_001006607.3(LRRC37A2):c.2466C>G (p.His822Gln)	ARL17A, LRRC37A2 (H822Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2239166	NM_016632.2(ARL17A):c.262C>G (p.Leu88Val)	ARL17A, LRRC37A2 (L88V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538484	NM_001006607.3(LRRC37A2):c.2676G>C (p.Glu892Asp)	ARL17A, LRRC37A2 (E892D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1703085	NM_001288811.1(ARL17A):c.294G>A (p.Trp98Ter)	ARL17A, LRRC37A2 (W98*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 3120596	NM_001006607.3(LRRC37A2):c.3028A>C (p.Met1010Leu)	ARL17A, LRRC37A2 (M1010L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393644	NM_001006607.3(LRRC37A2):c.3028A>G (p.Met1010Val)	ARL17A, LRRC37A2 (M1010V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384724	NM_001006607.3(LRRC37A2):c.3073G>A (p.Ala1025Thr)	ARL17A, LRRC37A2 (A1025T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357033	NM_001006607.3(LRRC37A2):c.3091T>C (p.Phe1031Leu)	ARL17A, LRRC37A2 (F1031L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206432	NM_001006607.3(LRRC37A2):c.3242C>T (p.Thr1081Ile)	ARL17A, LRRC37A2 (T1081I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2410791	NM_001006607.3(LRRC37A2):c.3337G>A (p.Glu1113Lys)	ARL17A, LRRC37A2 (E1113K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612041	NM_001006607.3(LRRC37A2):c.3440C>T (p.Thr1147Ile)	ARL17A, LRRC37A2 (T1147I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559006	NM_001006607.3(LRRC37A2):c.3446A>G (p.Asn1149Ser)	ARL17A, LRRC37A2 (N1149S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373083	NM_001006607.3(LRRC37A2):c.3469G>C (p.Val1157Leu)	ARL17A, LRRC37A2 (V1157L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120597	NM_001006607.3(LRRC37A2):c.3495G>T (p.Lys1165Asn)	ARL17A, LRRC37A2 (K1165N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2569722	NM_001006607.3(LRRC37A2):c.3496A>G (p.Arg1166Gly)	ARL17A, LRRC37A2 (R1166G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120598	NM_001006607.3(LRRC37A2):c.3537C>G (p.Phe1179Leu)	ARL17A, LRRC37A2 (F1179L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516125	NM_001006607.3(LRRC37A2):c.3592G>C (p.Glu1198Gln)	ARL17A, LRRC37A2 (E1198Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590412	NM_001006607.3(LRRC37A2):c.3619G>A (p.Gly1207Arg)	ARL17A, LRRC37A2 (G1207R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3120599	NM_001006607.3(LRRC37A2):c.3632C>T (p.Pro1211Leu)	ARL17A, LRRC37A2 (P1211L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307517	NM_001006607.3(LRRC37A2):c.3639G>C (p.Glu1213Asp)	ARL17A, LRRC37A2 (E1213D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407389	NM_001006607.3(LRRC37A2):c.3640G>C (p.Val1214Leu)	ARL17A, LRRC37A2 (V1214L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2226395	NM_001006607.3(LRRC37A2):c.3670G>A (p.Glu1224Lys)	ARL17A, LRRC37A2 (E1224K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399652	NM_001006607.3(LRRC37A2):c.3712A>C (p.Thr1238Pro)	ARL17A, LRRC37A2 (T1238P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120601	NM_001006607.3(LRRC37A2):c.3728C>T (p.Ala1243Val)	ARL17A, LRRC37A2 (A1243V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458699	NM_001006607.3(LRRC37A2):c.3746A>C (p.Lys1249Thr)	ARL17A, LRRC37A2 (K1249T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264877	NM_001006607.3(LRRC37A2):c.3761G>A (p.Gly1254Asp)	ARL17A, LRRC37A2 (G1254D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120602	NM_001006607.3(LRRC37A2):c.3769T>C (p.Ser1257Pro)	ARL17A, LRRC37A2 (S1257P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232488	NM_001006607.3(LRRC37A2):c.3791C>A (p.Ala1264Asp)	ARL17A, LRRC37A2 (A1264D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120603	NM_001006607.3(LRRC37A2):c.3796C>T (p.Pro1266Ser)	ARL17A, LRRC37A2 (P1266S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120605	NM_001006607.3(LRRC37A2):c.3875C>T (p.Thr1292Met)	ARL17A, LRRC37A2 (T1292M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3120606	NM_001006607.3(LRRC37A2):c.3880A>G (p.Thr1294Ala)	ARL17A, LRRC37A2 (T1294A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3291594	NM_001006607.3(LRRC37A2):c.3912A>T (p.Lys1304Asn)	ARL17A, LRRC37A2 (K1304N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304115	NM_001006607.3(LRRC37A2):c.3917G>A (p.Arg1306His)	ARL17A, LRRC37A2 (R1306H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260307	NM_001006607.3(LRRC37A2):c.3953C>T (p.Thr1318Ile)	ARL17A, LRRC37A2 (T1318I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2560035	NM_001006607.3(LRRC37A2):c.3962T>A (p.Val1321Asp)	ARL17A, LRRC37A2 (V1321D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481041	NM_001006607.3(LRRC37A2):c.4073C>A (p.Ala1358Asp)	ARL17A, LRRC37A2 (A1358D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391052	NM_001006607.3(LRRC37A2):c.4269T>G (p.His1423Gln)	ARL17A, LRRC37A2 (H1423Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391232	NM_001006607.3(LRRC37A2):c.4274C>A (p.Ala1425Glu)	ARL17A, LRRC37A2 (A1425E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528066	NM_001006607.3(LRRC37A2):c.4322C>G (p.Thr1441Ser)	ARL17A, LRRC37A2 (T1441S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389523	NM_001006607.3(LRRC37A2):c.4348G>A (p.Val1450Met)	ARL17A, LRRC37A2 (V1450M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2607029	NM_001006607.3(LRRC37A2):c.4390C>T (p.Pro1464Ser)	ARL17A, LRRC37A2 (P1464S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3120607	NM_001006607.3(LRRC37A2):c.4403C>G (p.Ser1468Cys)	ARL17A, LRRC37A2 (S1468C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350273	NM_001006607.3(LRRC37A2):c.4777A>T (p.Thr1593Ser)	ARL17A, LRRC37A2 (T1593S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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