NBEAL1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	LOC129935343, LOC129935344 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	ABCA12, ABI2 +509 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935480, LOC129935481 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146015	GRCh38/hg38 2q32.3-33.2(chr2:195660594-203969488)x1	ABI2, ALS2 +279 more	Copy number loss	See cases	GPathogenic
Select item 155234	GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1	ABI2, ADAM23 +298 more	Copy number loss	See cases	GPathogenic
Select item 152538	GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1	ABI2, ADAM23 +293 more	Copy number loss	See cases	GPathogenic
Select item 147740	GRCh38/hg38 2q33.2-33.3(chr2:202631428-204929860)x1	ABI2, CARF +47 more	Copy number loss	See cases	GPathogenic
Select item 3178736	NM_001378026.1(NBEAL1):c.57T>A (p.Asp19Glu)	NBEAL1 (D19E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372560	NM_001378026.1(NBEAL1):c.130A>G (p.Lys44Glu)	NBEAL1 (K44E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651827	NM_001378026.1(NBEAL1):c.147A>G (p.Val49=)	NBEAL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2349173	NM_001378026.1(NBEAL1):c.157C>T (p.Pro53Ser)	NBEAL1 (P53S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224226	NM_001378026.1(NBEAL1):c.220T>A (p.Cys74Ser)	NBEAL1 (C74S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178534	NM_001378026.1(NBEAL1):c.235G>T (p.Ala79Ser)	NBEAL1 (A79S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293535	NM_001378026.1(NBEAL1):c.263C>T (p.Ala88Val)	NBEAL1 (A88V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389997	NM_001378026.1(NBEAL1):c.364A>G (p.Met122Val)	NBEAL1 (M122V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714942	NM_001378026.1(NBEAL1):c.414A>G (p.Glu138=)	NBEAL1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2295128	NM_001378026.1(NBEAL1):c.502C>T (p.His168Tyr)	NBEAL1 (H168Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545997	NM_001378026.1(NBEAL1):c.508A>G (p.Ile170Val)	NBEAL1 (I170V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178707	NM_001378026.1(NBEAL1):c.518G>A (p.Arg173Gln)	NBEAL1 (R173Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178743	NM_001378026.1(NBEAL1):c.591C>G (p.Phe197Leu)	NBEAL1 (F197L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178756	NM_001378026.1(NBEAL1):c.631A>G (p.Ser211Gly)	NBEAL1 (S211G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178762	NM_001378026.1(NBEAL1):c.633T>G (p.Ser211Arg)	NBEAL1 (S211R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253981	NM_001378026.1(NBEAL1):c.651G>C (p.Leu217Phe)	NBEAL1 (L217F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551429	NM_001378026.1(NBEAL1):c.755C>G (p.Ser252Cys)	NBEAL1 (S252C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569026	NM_001378026.1(NBEAL1):c.763G>A (p.Asp255Asn)	NBEAL1 (D255N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614828	NM_001378026.1(NBEAL1):c.782T>A (p.Val261Glu)	NBEAL1 (V261E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271590	NM_001378026.1(NBEAL1):c.893A>G (p.Tyr298Cys)	NBEAL1 (Y298C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266744	NM_001378026.1(NBEAL1):c.917A>G (p.His306Arg)	NBEAL1 (H306R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529034	NM_001378026.1(NBEAL1):c.1199A>C (p.Gln400Pro)	NBEAL1 (Q371P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178451	NM_001378026.1(NBEAL1):c.1280A>C (p.Lys427Thr)	NBEAL1 (K398T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252313	NM_001378026.1(NBEAL1):c.1426C>T (p.Leu476Phe)	NBEAL1 (L447F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342126	NM_001378026.1(NBEAL1):c.1462T>G (p.Ser488Ala)	NBEAL1 (S488A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386648	NM_001378026.1(NBEAL1):c.1531A>G (p.Thr511Ala)	NBEAL1 (T482A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178461	NM_001378026.1(NBEAL1):c.1544A>G (p.Asn515Ser)	NBEAL1 (N515S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 752691	NM_001378026.1(NBEAL1):c.1557G>A (p.Gly519=)	NBEAL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2405483	NM_001378026.1(NBEAL1):c.1558A>G (p.Ile520Val)	NBEAL1 (I491V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330153	NM_001378026.1(NBEAL1):c.1832C>T (p.Pro611Leu)	NBEAL1 (P611L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178473	NM_001378026.1(NBEAL1):c.1841A>G (p.Gln614Arg)	NBEAL1 (Q585R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178477	NM_001378026.1(NBEAL1):c.1987A>G (p.Ile663Val)	NBEAL1 (I634V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602099	NM_001378026.1(NBEAL1):c.2011G>A (p.Val671Met)	NBEAL1 (V671M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178488	NM_001378026.1(NBEAL1):c.2059C>T (p.His687Tyr)	NBEAL1 (H687Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235826	NM_001378026.1(NBEAL1):c.2062A>G (p.Ser688Gly)	NBEAL1 (S659G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246298	NM_001378026.1(NBEAL1):c.2086A>G (p.Asn696Asp)	NBEAL1 (N696D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178515	NM_001378026.1(NBEAL1):c.2106G>T (p.Met702Ile)	NBEAL1 (M673I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 783348	NM_001378026.1(NBEAL1):c.2253T>C (p.Pro751=)	NBEAL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2547675	NM_001378026.1(NBEAL1):c.2318G>T (p.Gly773Val)	NBEAL1 (G744V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178530	NM_001378026.1(NBEAL1):c.2375C>T (p.Thr792Ile)	NBEAL1 (T763I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352757	NM_001378026.1(NBEAL1):c.2444G>A (p.Gly815Glu)	NBEAL1 (G815E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178536	NM_001378026.1(NBEAL1):c.2532G>T (p.Lys844Asn)	NBEAL1 (K815N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178538	NM_001378026.1(NBEAL1):c.2537A>G (p.Gln846Arg)	NBEAL1 (Q817R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473121	NM_001378026.1(NBEAL1):c.2539G>C (p.Glu847Gln)	NBEAL1 (E847Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 721101	NM_001378026.1(NBEAL1):c.2567A>C (p.Asn856Thr)	NBEAL1 (N827T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2651828	NM_001378026.1(NBEAL1):c.2574T>G (p.Leu858=)	NBEAL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3178544	NM_001378026.1(NBEAL1):c.2627C>T (p.Thr876Ile)	NBEAL1 (T847I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608038	NM_001378026.1(NBEAL1):c.2696G>A (p.Cys899Tyr)	NBEAL1 (C870Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274964	NM_001378026.1(NBEAL1):c.2804C>T (p.Thr935Ile)	NBEAL1 (T906I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178553	NM_001378026.1(NBEAL1):c.2887A>G (p.Ile963Val)	NBEAL1 (I963V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178558	NM_001378026.1(NBEAL1):c.3140G>A (p.Arg1047Gln)	NBEAL1 (R1047Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492243	NM_001378026.1(NBEAL1):c.3185G>T (p.Arg1062Met)	NBEAL1 (R1062M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496037	NM_001378026.1(NBEAL1):c.3341G>A (p.Gly1114Asp)	NBEAL1 (G1085D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178572	NM_001378026.1(NBEAL1):c.3356A>T (p.Glu1119Val)	NBEAL1 (E1090V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178578	NM_001378026.1(NBEAL1):c.3379A>C (p.Ile1127Leu)	NBEAL1 (I1098L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771129	NM_001378026.1(NBEAL1):c.3443G>A (p.Arg1148His)	NBEAL1 (R1119H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2228648	NM_001378026.1(NBEAL1):c.3491G>T (p.Gly1164Val)	NBEAL1 (G1135V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 720343	NM_001378026.1(NBEAL1):c.3603G>A (p.Glu1201=)	NBEAL1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3178584	NM_001378026.1(NBEAL1):c.3799G>A (p.Ala1267Thr)	NBEAL1 (A1267T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 794562	NM_001378026.1(NBEAL1):c.3802A>G (p.Ile1268Val)	NBEAL1 (I1239V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2379820	NM_001378026.1(NBEAL1):c.3818T>C (p.Leu1273Ser)	NBEAL1 (L1244S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525670	NM_001378026.1(NBEAL1):c.3821A>G (p.Gln1274Arg)	NBEAL1 (Q1274R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228338	NM_001378026.1(NBEAL1):c.3839C>G (p.Pro1280Arg)	NBEAL1 (P1280R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 749485	NM_001378026.1(NBEAL1):c.3921C>T (p.Asn1307=)	NBEAL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3178611	NM_001378026.1(NBEAL1):c.3923G>T (p.Gly1308Val)	NBEAL1 (G1279V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178618	NM_001378026.1(NBEAL1):c.3985A>G (p.Thr1329Ala)	NBEAL1 (T1300A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3178627	NM_001378026.1(NBEAL1):c.3998A>G (p.Lys1333Arg)	NBEAL1 (K1333R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310985	NM_001378026.1(NBEAL1):c.4127A>G (p.Asp1376Gly)	NBEAL1 (D1347G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178644	NM_001378026.1(NBEAL1):c.4146G>T (p.Leu1382Phe)	NBEAL1 (L1353F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178652	NM_001378026.1(NBEAL1):c.4166A>G (p.Gln1389Arg)	NBEAL1 (Q1389R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275214	NM_001378026.1(NBEAL1):c.4177T>G (p.Trp1393Gly)	NBEAL1 (W1364G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553697	NM_001378026.1(NBEAL1):c.4349T>C (p.Met1450Thr)	NBEAL1 (M1421T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2365579	NM_001378026.1(NBEAL1):c.4445G>A (p.Cys1482Tyr)	NBEAL1 (C1453Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178673	NM_001378026.1(NBEAL1):c.4500T>A (p.Phe1500Leu)	NBEAL1 (F1471L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338078	NM_001378026.1(NBEAL1):c.4714G>A (p.Glu1572Lys)	NBEAL1 (E1543K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550017	NM_001378026.1(NBEAL1):c.4919C>T (p.Ala1640Val)	NBEAL1 (A1611V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345024	NM_001378026.1(NBEAL1):c.4949T>A (p.Val1650Asp)	NBEAL1 (V1621D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719902	NM_001378026.1(NBEAL1):c.4985A>T (p.Tyr1662Phe)	NBEAL1 (Y1633F +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3178687	NM_001378026.1(NBEAL1):c.4996A>G (p.Ile1666Val)	NBEAL1 (I1666V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407390	NM_001378026.1(NBEAL1):c.5053C>T (p.His1685Tyr)	NBEAL1 (H1685Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334612	NM_001378026.1(NBEAL1):c.5063C>T (p.Ser1688Phe)	NBEAL1 (S1659F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552635	NM_001378026.1(NBEAL1):c.5083A>G (p.Ser1695Gly)	NBEAL1 (S1695G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178695	NM_001378026.1(NBEAL1):c.5120A>G (p.Asn1707Ser)	NBEAL1 (N1678S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2589709	NM_001378026.1(NBEAL1):c.5200G>A (p.Gly1734Ser)	NBEAL1 (G1705S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178704	NM_001378026.1(NBEAL1):c.5207A>G (p.Glu1736Gly)	NBEAL1 (E1707G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263999	NM_001378026.1(NBEAL1):c.5300T>A (p.Phe1767Tyr)	NBEAL1 (F1767Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225322	NM_001378026.1(NBEAL1):c.5338C>T (p.Arg1780Cys)	NBEAL1 (R1751C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490961	NM_001378026.1(NBEAL1):c.5408G>C (p.Arg1803Pro)	NBEAL1 (R1803P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178723	NM_001378026.1(NBEAL1):c.5476A>G (p.Ile1826Val)	NBEAL1 (I1797V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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