PLXNB1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 2320333	NM_001130082.3(PLXNB1):c.6398C>T (p.Thr2133Ile)	PLXNB1 (T2133I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051463	NM_001130082.3(PLXNB1):c.6303+6C>A	PLXNB1	Single nucleotide variant (intron variant)	PLXNB1-related disorder	GLikely benign
Select item 3307933	NM_001130082.3(PLXNB1):c.6140G>A (p.Arg2047Gln)	PLXNB1 (R2047Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3215616	NM_001130082.3(PLXNB1):c.6130C>T (p.Arg2044Trp)	PLXNB1 (R2044W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551543	NM_001130082.3(PLXNB1):c.6049A>G (p.Met2017Val)	PLXNB1 (M2017V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215615	NM_001130082.3(PLXNB1):c.6048C>G (p.Phe2016Leu)	PLXNB1 (F2016L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215614	NM_001130082.3(PLXNB1):c.5995G>C (p.Val1999Leu)	PLXNB1 (V1999L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215613	NM_001130082.3(PLXNB1):c.5995G>A (p.Val1999Met)	PLXNB1 (V1999M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315545	NM_001130082.3(PLXNB1):c.5866G>A (p.Asp1956Asn)	PLXNB1 (D1956N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307934	NM_001130082.3(PLXNB1):c.5834G>A (p.Arg1945His)	PLXNB1 (R1945H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215612	NM_001130082.3(PLXNB1):c.5833C>T (p.Arg1945Cys)	PLXNB1 (R1945C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215611	NM_001130082.3(PLXNB1):c.5825G>A (p.Ser1942Asn)	PLXNB1 (S1942N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211916	NM_001130082.3(PLXNB1):c.5824A>G (p.Ser1942Gly)	PLXNB1 (S1942G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785050	NM_001130082.3(PLXNB1):c.5796C>T (p.Phe1932=)	PLXNB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2333031	NM_001130082.3(PLXNB1):c.5717G>A (p.Gly1906Glu)	PLXNB1 (G1906E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215610	NM_001130082.3(PLXNB1):c.5711G>A (p.Arg1904Gln)	PLXNB1 (R1904Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215609	NM_001130082.3(PLXNB1):c.5663A>T (p.Lys1888Met)	PLXNB1 (K1888M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035707	NM_001130082.3(PLXNB1):c.5643C>T (p.Ile1881=)	PLXNB1	Single nucleotide variant (synonymous variant)	PLXNB1-related disorder	GBenign
Select item 3215608	NM_001130082.3(PLXNB1):c.5578G>A (p.Glu1860Lys)	PLXNB1 (E1860K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215607	NM_001130082.3(PLXNB1):c.5575C>T (p.Arg1859Trp)	PLXNB1 (R1859W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332226	NM_001130082.3(PLXNB1):c.5548G>A (p.Val1850Ile)	PLXNB1 (V1850I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767905	NM_001130082.3(PLXNB1):c.5403C>T (p.Arg1801=)	PLXNB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3034659	NM_001130082.3(PLXNB1):c.5376G>C (p.Val1792=)	PLXNB1	Single nucleotide variant (synonymous variant)	PLXNB1-related disorder	GBenign
Select item 3215605	NM_001130082.3(PLXNB1):c.5255A>C (p.Asn1752Thr)	PLXNB1 (N1752T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049899	NM_001130082.3(PLXNB1):c.5061C>T (p.Leu1687=)	PLXNB1	Single nucleotide variant (synonymous variant)	PLXNB1-related disorder	GBenign
Select item 3215604	NM_001130082.3(PLXNB1):c.4891G>C (p.Ala1631Pro)	PLXNB1 (A1631P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712524	NM_001130082.3(PLXNB1):c.4866G>A (p.Thr1622=)	PLXNB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2282280	NM_001130082.3(PLXNB1):c.4810G>A (p.Gly1604Arg)	PLXNB1 (G1604R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215603	NM_001130082.3(PLXNB1):c.4774C>T (p.Pro1592Ser)	PLXNB1 (P1592S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215602	NM_001130082.3(PLXNB1):c.4745A>G (p.Glu1582Gly)	PLXNB1 (E1582G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057410	NM_001130082.3(PLXNB1):c.4656C>T (p.Thr1552=)	PLXNB1	Single nucleotide variant (synonymous variant)	PLXNB1-related disorder	GLikely benign
Select item 3215601	NM_001130082.3(PLXNB1):c.4561G>T (p.Asp1521Tyr)	PLXNB1 (D1521Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215600	NM_001130082.3(PLXNB1):c.4459G>A (p.Val1487Met)	PLXNB1 (V1487M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3215599	NM_001130082.3(PLXNB1):c.4435G>A (p.Gly1479Ser)	PLXNB1 (G1479S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3040204	NM_001130082.3(PLXNB1):c.4434C>T (p.Asp1478=)	PLXNB1	Single nucleotide variant (synonymous variant)	PLXNB1-related disorder	GLikely benign
Select item 2633329	NM_001130082.3(PLXNB1):c.4400A>G (p.Asn1467Ser)	PLXNB1 (N1467S)	Single nucleotide variant (missense variant)	PLXNB1-related disorder	GUncertain significance
Select item 2396446	NM_001130082.3(PLXNB1):c.4355G>A (p.Arg1452Gln)	PLXNB1 (R1452Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215598	NM_001130082.3(PLXNB1):c.4349C>T (p.Ala1450Val)	PLXNB1 (A1450V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527362	NM_001130082.3(PLXNB1):c.4256T>C (p.Met1419Thr)	PLXNB1 (M1419T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494587	NM_001130082.3(PLXNB1):c.4235C>T (p.Ser1412Phe)	PLXNB1 (S1412F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327652	NM_001130082.3(PLXNB1):c.4232T>C (p.Met1411Thr)	PLXNB1 (M1411T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540601	NM_001130082.3(PLXNB1):c.4204G>A (p.Val1402Met)	PLXNB1 (V1402M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472265	NM_001130082.3(PLXNB1):c.4147C>T (p.Leu1383Phe)	PLXNB1 (L1383F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327307	NM_001130082.3(PLXNB1):c.4132C>G (p.Pro1378Ala)	PLXNB1 (P1378A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307946	NM_001130082.3(PLXNB1):c.4076A>C (p.Asn1359Thr)	PLXNB1 (N1359T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225529	NM_001130082.3(PLXNB1):c.4055G>A (p.Arg1352Gln)	PLXNB1 (R1352Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3307941	NM_001130082.3(PLXNB1):c.4050G>T (p.Trp1350Cys)	PLXNB1 (W1350C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215596	NM_001130082.3(PLXNB1):c.3986T>C (p.Val1329Ala)	PLXNB1 (V1329A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295642	NM_001130082.3(PLXNB1):c.3983A>G (p.His1328Arg)	PLXNB1 (H1328R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215652	NM_001130082.3(PLXNB1):c.3916G>T (p.Val1306Leu)	PLXNB1 (V1306L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2637208	NM_001130082.3(PLXNB1):c.3914G>A (p.Arg1305His)	PLXNB1 (R1305H)	Single nucleotide variant (missense variant)	PLXNB1-related disorder	GUncertain significance
Select item 2349240	NM_001130082.3(PLXNB1):c.3911G>A (p.Arg1304His)	PLXNB1 (R1304H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282479	NM_001130082.3(PLXNB1):c.3908G>C (p.Arg1303Thr)	PLXNB1 (R1303T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215595	NM_001130082.3(PLXNB1):c.3905G>C (p.Arg1302Pro)	PLXNB1 (R1302P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215594	NM_001130082.3(PLXNB1):c.3878T>C (p.Met1293Thr)	PLXNB1 (M1293T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215593	NM_001130082.3(PLXNB1):c.3872C>T (p.Ser1291Leu)	PLXNB1 (S1291L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354552	NM_001130082.3(PLXNB1):c.3866T>C (p.Val1289Ala)	PLXNB1 (V1289A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589980	NM_001130082.3(PLXNB1):c.3811T>C (p.Cys1271Arg)	PLXNB1 (C1271R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253038	NM_001130082.3(PLXNB1):c.3778A>G (p.Thr1260Ala)	PLXNB1 (T1260A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215592	NM_001130082.3(PLXNB1):c.3760A>G (p.Ile1254Val)	PLXNB1 (I1254V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2610356	NM_001130082.3(PLXNB1):c.3730G>A (p.Gly1244Arg)	PLXNB1 (G1244R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2634088	NM_001130082.3(PLXNB1):c.3728G>A (p.Arg1243His)	PLXNB1 (R1243H)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3215590	NM_001130082.3(PLXNB1):c.3691G>A (p.Ala1231Thr)	PLXNB1 (A1231T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343158	NM_001130082.3(PLXNB1):c.3671C>T (p.Thr1224Met)	PLXNB1 (T1224M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307937	NM_001130082.3(PLXNB1):c.3664C>T (p.Arg1222Cys)	PLXNB1 (R1222C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3215589	NM_001130082.3(PLXNB1):c.3618G>C (p.Leu1206Phe)	PLXNB1 (L1206F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521494	NM_001130082.3(PLXNB1):c.3535C>T (p.Arg1179Cys)	PLXNB1 (R1179C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352732	NM_001130082.3(PLXNB1):c.3512G>A (p.Arg1171His)	PLXNB1 (R1171H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3344524	NM_001130082.3(PLXNB1):c.3443G>T (p.Arg1148Ile)	PLXNB1 (R1148I)	Single nucleotide variant (missense variant)	PLXNB1-related disorder	GUncertain significance
Select item 2632510	NM_001130082.3(PLXNB1):c.3348T>A (p.Asp1116Glu)	PLXNB1 (D1116E)	Single nucleotide variant (missense variant)	PLXNB1-related disorder	GUncertain significance
Select item 3307945	NM_001130082.3(PLXNB1):c.3262G>C (p.Val1088Leu)	PLXNB1 (V1088L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307935	NM_001130082.3(PLXNB1):c.3259C>T (p.Arg1087Cys)	PLXNB1 (R1087C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712525	NM_001130082.3(PLXNB1):c.3249C>T (p.Asp1083=)	PLXNB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2535699	NM_001130082.3(PLXNB1):c.3224T>G (p.Val1075Gly)	PLXNB1 (V1075G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621076	NM_001130082.3(PLXNB1):c.3221C>T (p.Ser1074Leu)	PLXNB1 (S1074L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307940	NM_001130082.3(PLXNB1):c.3161G>A (p.Arg1054Gln)	PLXNB1 (R1054Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2463861	NM_001130082.3(PLXNB1):c.3161G>T (p.Arg1054Leu)	PLXNB1 (R1054L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300276	NM_001130082.3(PLXNB1):c.3143G>A (p.Arg1048His)	PLXNB1 (R1048H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2239777	NM_001130082.3(PLXNB1):c.3074G>A (p.Gly1025Glu)	PLXNB1 (G1025E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245819	NM_001130082.3(PLXNB1):c.3052G>A (p.Val1018Ile)	PLXNB1 (V1018I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312700	NM_001130082.3(PLXNB1):c.3034G>A (p.Ala1012Thr)	PLXNB1 (A1012T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470323	NM_001130082.3(PLXNB1):c.3023G>A (p.Arg1008His)	PLXNB1 (R1008H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307947	NM_001130082.3(PLXNB1):c.3007C>T (p.Arg1003Trp)	PLXNB1 (R1003W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236952	NM_001130082.3(PLXNB1):c.3004C>T (p.Arg1002Cys)	PLXNB1 (R1002C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215588	NM_001130082.3(PLXNB1):c.2987G>A (p.Arg996His)	PLXNB1 (R996H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043418	NM_001130082.3(PLXNB1):c.2979G>A (p.Pro993=)	PLXNB1	Single nucleotide variant (synonymous variant)	PLXNB1-related disorder	GLikely benign
Select item 2385859	NM_001130082.3(PLXNB1):c.2978C>T (p.Pro993Leu)	PLXNB1 (P993L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057255	NM_001130082.3(PLXNB1):c.2934T>C (p.His978=)	PLXNB1	Single nucleotide variant (synonymous variant)	PLXNB1-related disorder	GLikely benign
Select item 2541258	NM_001130082.3(PLXNB1):c.2933A>G (p.His978Arg)	PLXNB1 (H978R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219378	NM_001130082.3(PLXNB1):c.2878G>A (p.Glu960Lys)	PLXNB1 (E960K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215587	NM_001130082.3(PLXNB1):c.2816A>G (p.Asn939Ser)	PLXNB1 (N939S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243423	NM_001130082.3(PLXNB1):c.2774T>G (p.Met925Arg)	PLXNB1 (M925R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3215586	NM_001130082.3(PLXNB1):c.2717C>T (p.Ala906Val)	PLXNB1 (A906V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 512653	NM_001130082.3(PLXNB1):c.2710-10G>C	PLXNB1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3043816	NM_001130082.3(PLXNB1):c.2652C>G (p.Pro884=)	PLXNB1	Single nucleotide variant (synonymous variant)	PLXNB1-related disorder	GLikely benign
Select item 2394587	NM_001130082.3(PLXNB1):c.2594C>T (p.Thr865Ile)	PLXNB1 (T865I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307942	NM_001130082.3(PLXNB1):c.2593A>C (p.Thr865Pro)	PLXNB1 (T865P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057377	NM_001130082.3(PLXNB1):c.2583C>T (p.Pro861=)	PLXNB1	Single nucleotide variant (synonymous variant)	PLXNB1-related disorder	GLikely benign
Select item 2653788	NM_001130082.3(PLXNB1):c.2583C>G (p.Pro861=)	PLXNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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