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)	Inborn genetic diseases	GUncertain significance
Select item 3051463	NM_001130082.3(PLXNB1):c.6303+6C>A	PLXNB1	Single nucleotide variant (intron variant)	PLXNB1-related condition	GLikely benign
Select item 2551543	NM_001130082.3(PLXNB1):c.6049A>G (p.Met2017Val)	PLXNB1 (M2017V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315545	NM_001130082.3(PLXNB1):c.5866G>A (p.Asp1956Asn)	PLXNB1 (D1956N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211916	NM_001130082.3(PLXNB1):c.5824A>G (p.Ser1942Gly)	PLXNB1 (S1942G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 785050	NM_001130082.3(PLXNB1):c.5796C>T (p.Phe1932=)	PLXNB1	Single nucleotide variant (synonymous variant)	PLXNB1-related condition +1 more	GBenign
Select item 2333031	NM_001130082.3(PLXNB1):c.5717G>A (p.Gly1906Glu)	PLXNB1 (G1906E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3035707	NM_001130082.3(PLXNB1):c.5643C>T (p.Ile1881=)	PLXNB1	Single nucleotide variant (synonymous variant)	PLXNB1-related condition	GBenign
Select item 2332226	NM_001130082.3(PLXNB1):c.5548G>A (p.Val1850Ile)	PLXNB1 (V1850I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 767905	NM_001130082.3(PLXNB1):c.5403C>T (p.Arg1801=)	PLXNB1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3034659	NM_001130082.3(PLXNB1):c.5376G>C (p.Val1792=)	PLXNB1	Single nucleotide variant (synonymous variant)	PLXNB1-related condition	GBenign
Select item 3049899	NM_001130082.3(PLXNB1):c.5061C>T (p.Leu1687=)	PLXNB1	Single nucleotide variant (synonymous variant)	PLXNB1-related condition	GBenign
Select item 712524	NM_001130082.3(PLXNB1):c.4866G>A (p.Thr1622=)	PLXNB1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2282280	NM_001130082.3(PLXNB1):c.4810G>A (p.Gly1604Arg)	PLXNB1 (G1604R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3057410	NM_001130082.3(PLXNB1):c.4656C>T (p.Thr1552=)	PLXNB1	Single nucleotide variant (synonymous variant)	PLXNB1-related condition	GLikely benign
Select item 3040204	NM_001130082.3(PLXNB1):c.4434C>T (p.Asp1478=)	PLXNB1	Single nucleotide variant (synonymous variant)	PLXNB1-related condition	GLikely benign
Select item 2633329	NM_001130082.3(PLXNB1):c.4400A>G (p.Asn1467Ser)	PLXNB1 (N1467S)	Single nucleotide variant (missense variant)	PLXNB1-related condition	GUncertain significance
Select item 2396446	NM_001130082.3(PLXNB1):c.4355G>A (p.Arg1452Gln)	PLXNB1 (R1452Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527362	NM_001130082.3(PLXNB1):c.4256T>C (p.Met1419Thr)	PLXNB1 (M1419T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494587	NM_001130082.3(PLXNB1):c.4235C>T (p.Ser1412Phe)	PLXNB1 (S1412F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327652	NM_001130082.3(PLXNB1):c.4232T>C (p.Met1411Thr)	PLXNB1 (M1411T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540601	NM_001130082.3(PLXNB1):c.4204G>A (p.Val1402Met)	PLXNB1 (V1402M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472265	NM_001130082.3(PLXNB1):c.4147C>T (p.Leu1383Phe)	PLXNB1 (L1383F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327307	NM_001130082.3(PLXNB1):c.4132C>G (p.Pro1378Ala)	PLXNB1 (P1378A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225529	NM_001130082.3(PLXNB1):c.4055G>A (p.Arg1352Gln)	PLXNB1 (R1352Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2295642	NM_001130082.3(PLXNB1):c.3983A>G (p.His1328Arg)	PLXNB1 (H1328R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2215652	NM_001130082.3(PLXNB1):c.3916G>T (p.Val1306Leu)	PLXNB1 (V1306L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2637208	NM_001130082.3(PLXNB1):c.3914G>A (p.Arg1305His)	PLXNB1 (R1305H)	Single nucleotide variant (missense variant)	PLXNB1-related condition	GUncertain significance
Select item 2349240	NM_001130082.3(PLXNB1):c.3911G>A (p.Arg1304His)	PLXNB1 (R1304H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282479	NM_001130082.3(PLXNB1):c.3908G>C (p.Arg1303Thr)	PLXNB1 (R1303T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354552	NM_001130082.3(PLXNB1):c.3866T>C (p.Val1289Ala)	PLXNB1 (V1289A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589980	NM_001130082.3(PLXNB1):c.3811T>C (p.Cys1271Arg)	PLXNB1 (C1271R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253038	NM_001130082.3(PLXNB1):c.3778A>G (p.Thr1260Ala)	PLXNB1 (T1260A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610356	NM_001130082.3(PLXNB1):c.3730G>A (p.Gly1244Arg)	PLXNB1 (G1244R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2634088	NM_001130082.3(PLXNB1):c.3728G>A (p.Arg1243His)	PLXNB1 (R1243H)	Single nucleotide variant (missense variant)	PLXNB1-related condition	GUncertain significance
Select item 2343158	NM_001130082.3(PLXNB1):c.3671C>T (p.Thr1224Met)	PLXNB1 (T1224M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521494	NM_001130082.3(PLXNB1):c.3535C>T (p.Arg1179Cys)	PLXNB1 (R1179C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352732	NM_001130082.3(PLXNB1):c.3512G>A (p.Arg1171His)	PLXNB1 (R1171H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2632510	NM_001130082.3(PLXNB1):c.3348T>A (p.Asp1116Glu)	PLXNB1 (D1116E)	Single nucleotide variant (missense variant)	PLXNB1-related condition	GUncertain significance
Select item 712525	NM_001130082.3(PLXNB1):c.3249C>T (p.Asp1083=)	PLXNB1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2535699	NM_001130082.3(PLXNB1):c.3224T>G (p.Val1075Gly)	PLXNB1 (V1075G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621076	NM_001130082.3(PLXNB1):c.3221C>T (p.Ser1074Leu)	PLXNB1 (S1074L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463861	NM_001130082.3(PLXNB1):c.3161G>T (p.Arg1054Leu)	PLXNB1 (R1054L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2300276	NM_001130082.3(PLXNB1):c.3143G>A (p.Arg1048His)	PLXNB1 (R1048H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2239777	NM_001130082.3(PLXNB1):c.3074G>A (p.Gly1025Glu)	PLXNB1 (G1025E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245819	NM_001130082.3(PLXNB1):c.3052G>A (p.Val1018Ile)	PLXNB1 (V1018I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312700	NM_001130082.3(PLXNB1):c.3034G>A (p.Ala1012Thr)	PLXNB1 (A1012T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470323	NM_001130082.3(PLXNB1):c.3023G>A (p.Arg1008His)	PLXNB1 (R1008H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236952	NM_001130082.3(PLXNB1):c.3004C>T (p.Arg1002Cys)	PLXNB1 (R1002C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3043418	NM_001130082.3(PLXNB1):c.2979G>A (p.Pro993=)	PLXNB1	Single nucleotide variant (synonymous variant)	PLXNB1-related condition	GLikely benign
Select item 2385859	NM_001130082.3(PLXNB1):c.2978C>T (p.Pro993Leu)	PLXNB1 (P993L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3057255	NM_001130082.3(PLXNB1):c.2934T>C (p.His978=)	PLXNB1	Single nucleotide variant (synonymous variant)	PLXNB1-related condition	GLikely benign
Select item 2541258	NM_001130082.3(PLXNB1):c.2933A>G (p.His978Arg)	PLXNB1 (H978R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219378	NM_001130082.3(PLXNB1):c.2878G>A (p.Glu960Lys)	PLXNB1 (E960K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243423	NM_001130082.3(PLXNB1):c.2774T>G (p.Met925Arg)	PLXNB1 (M925R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 condition	GLikely benign
Select item 2394587	NM_001130082.3(PLXNB1):c.2594C>T (p.Thr865Ile)	PLXNB1 (T865I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3057377	NM_001130082.3(PLXNB1):c.2583C>T (p.Pro861=)	PLXNB1	Single nucleotide variant (synonymous variant)	PLXNB1-related condition	GLikely benign
Select item 2653788	NM_001130082.3(PLXNB1):c.2583C>G (p.Pro861=)	PLXNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3046025	NM_001130082.3(PLXNB1):c.2577C>T (p.Asp859=)	PLXNB1	Single nucleotide variant (synonymous variant)	PLXNB1-related condition	GLikely benign
Select item 2240170	NM_001130082.3(PLXNB1):c.2573G>T (p.Gly858Val)	PLXNB1 (G858V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3052376	NM_001130082.3(PLXNB1):c.2560G>A (p.Glu854Lys)	PLXNB1 (E854K)	Single nucleotide variant (missense variant)	PLXNB1-related condition	GBenign
Select item 722456	NM_001130082.3(PLXNB1):c.2556G>A (p.Ala852=)	PLXNB1	Single nucleotide variant (synonymous variant)	PLXNB1-related condition +1 more	GBenign/Likely benign
Select item 785051	NM_001130082.3(PLXNB1):c.2538C>T (p.Gly846=)	PLXNB1	Single nucleotide variant (synonymous variant)	PLXNB1-related condition +1 more	GBenign/Likely benign
Select item 712054	NM_001130082.3(PLXNB1):c.2512G>T (p.Ala838Ser)	PLXNB1 (A838S)	Single nucleotide variant (missense variant)	PLXNB1-related condition +1 more	GBenign
Select item 3038675	NM_001130082.3(PLXNB1):c.2475C>T (p.Ala825=)	PLXNB1	Single nucleotide variant (synonymous variant)	PLXNB1-related condition	GLikely benign
Select item 2369712	NM_001130082.3(PLXNB1):c.2450A>G (p.Asp817Gly)	PLXNB1 (D817G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 767906	NM_001130082.3(PLXNB1):c.2382C>G (p.Pro794=)	PLXNB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2631946	NM_001130082.3(PLXNB1):c.2381C>T (p.Pro794Leu)	PLXNB1 (P794L)	Single nucleotide variant (missense variant)	PLXNB1-related condition	GUncertain significance
Select item 2307347	NM_001130082.3(PLXNB1):c.2348C>T (p.Thr783Ile)	PLXNB1 (T783I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354551	NM_001130082.3(PLXNB1):c.2326A>G (p.Thr776Ala)	PLXNB1 (T776A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515685	NM_001130082.3(PLXNB1):c.2318C>T (p.Pro773Leu)	PLXNB1 (P773L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2653789	NM_001130082.3(PLXNB1):c.2310C>T (p.Thr770=)	PLXNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1678233	NM_001130082.3(PLXNB1):c.2302C>T (p.Pro768Ser)	PLXNB1 (P768S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 770522	NM_001130082.3(PLXNB1):c.2258C>T (p.Ser753Leu)	PLXNB1 (S753L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 783376	NM_001130082.3(PLXNB1):c.2165C>T (p.Ser722Leu)	PLXNB1 (S722L)	Single nucleotide variant (missense variant)	PLXNB1-related condition +1 more	GBenign
Select item 2262806	NM_001130082.3(PLXNB1):c.2159C>G (p.Thr720Arg)	PLXNB1 (T720R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484133	NM_001130082.3(PLXNB1):c.2111C>G (p.Pro704Arg)	PLXNB1 (P704R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2486868	NM_001130082.3(PLXNB1):c.2068C>G (p.Pro690Ala)	PLXNB1 (P690A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292255	NM_001130082.3(PLXNB1):c.2033C>T (p.Pro678Leu)	PLXNB1 (P678L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512438	NM_001130082.3(PLXNB1):c.1968G>T (p.Trp656Cys)	PLXNB1 (W656C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2653790	NM_001130082.3(PLXNB1):c.1917G>T (p.Ala639=)	PLXNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2221836	NM_001130082.3(PLXNB1):c.1910C>T (p.Pro637Leu)	PLXNB1 (P637L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 770523	NM_001130082.3(PLXNB1):c.1893G>A (p.Ala631=)	PLXNB1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2305767	NM_001130082.3(PLXNB1):c.1892C>T (p.Ala631Val)	PLXNB1 (A631V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 791242	NM_001130082.3(PLXNB1):c.1845C>T (p.Gly615=)	PLXNB1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3049858	NM_001130082.3(PLXNB1):c.1815C>T (p.Tyr605=)	PLXNB1	Single nucleotide variant (synonymous variant)	PLXNB1-related condition	GLikely benign
Select item 2334220	NM_001130082.3(PLXNB1):c.1790C>T (p.Pro597Leu)	PLXNB1 (P597L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3037970	NM_001130082.3(PLXNB1):c.1776C>T (p.Asp592=)	PLXNB1	Single nucleotide variant (synonymous variant)	PLXNB1-related condition	GBenign
Select item 2541845	NM_001130082.3(PLXNB1):c.1742T>C (p.Leu581Pro)	PLXNB1 (L581P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3051027	NM_001130082.3(PLXNB1):c.1686G>A (p.Leu562=)	PLXNB1	Single nucleotide variant (synonymous variant)	PLXNB1-related condition	GLikely benign
Select item 2528338	NM_001130082.3(PLXNB1):c.1658T>C (p.Phe553Ser)	PLXNB1 (F553S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550580	NM_001130082.3(PLXNB1):c.1616T>C (p.Met539Thr)	PLXNB1 (M539T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3042439	NM_001130082.3(PLXNB1):c.1521-7C>T	PLXNB1	Single nucleotide variant (intron variant)	PLXNB1-related condition	GLikely benign
Select item 3038094	NM_001130082.3(PLXNB1):c.1374C>A (p.Thr458=)	PLXNB1	Single nucleotide variant (synonymous variant)	PLXNB1-related condition	GBenign
Select item 3056263	NM_001130082.3(PLXNB1):c.1360A>C (p.Ser454Arg)	PLXNB1 (S454R)	Single nucleotide variant (missense variant)	PLXNB1-related condition	GBenign
Select item 2231500	NM_001130082.3(PLXNB1):c.1327T>G (p.Ser443Ala)	PLXNB1 (S443A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3039341	NM_001130082.3(PLXNB1):c.1303C>T (p.Pro435Ser)	PLXNB1 (P435S)	Single nucleotide variant (missense variant)	PLXNB1-related condition	GBenign

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