NBEAL2[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 1288588	NC_000003.12:g.46979345A>T	CCDC12, NBEAL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251507	NC_000003.12:g.46979533A>G	CCDC12, LOC129936658 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248264	NC_000003.12:g.46979634A>G	CCDC12, NBEAL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 899579	NM_015175.3(NBEAL2):c.-178G>A	CCDC12, NBEAL2	Single nucleotide variant (5 prime UTR variant +1 more)	Gray platelet syndrome	GUncertain significance
Select item 345608	NM_015175.3(NBEAL2):c.-162C>T	CCDC12, NBEAL2	Single nucleotide variant (5 prime UTR variant +1 more)	Gray platelet syndrome	GUncertain significance
Select item 899580	NM_015175.3(NBEAL2):c.-120C>G	CCDC12, NBEAL2	Single nucleotide variant (5 prime UTR variant +1 more)	Gray platelet syndrome	GUncertain significance
Select item 345609	NM_015175.3(NBEAL2):c.-76G>A	CCDC12, NBEAL2	Single nucleotide variant (5 prime UTR variant +1 more)	Gray platelet syndrome	GUncertain significance
Select item 345610	NM_015175.3(NBEAL2):c.-14_-9dup	NBEAL2, CCDC12	Duplication (5 prime UTR variant +1 more)	Gray platelet syndrome	GUncertain significance
Select item 2582769	NM_015175.3(NBEAL2):c.37C>T (p.Leu13Phe)	CCDC12, NBEAL2 (L13F)	Single nucleotide variant (missense variant +1 more)	Gray platelet syndrome	GUncertain significance
Select item 753173	NM_015175.3(NBEAL2):c.39C>T (p.Leu13=)	CCDC12, NBEAL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 345611	NM_015175.3(NBEAL2):c.51+11C>T	CCDC12, NBEAL2	Single nucleotide variant (intron variant)	Gray platelet syndrome	GUncertain significance
Select item 345613	NM_015175.3(NBEAL2):c.123C>G (p.Ser41=)	NBEAL2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3030162	NM_015175.3(NBEAL2):c.140+6G>T	NBEAL2	Single nucleotide variant (intron variant)	NBEAL2-related disorder	GLikely benign
Select item 2524197	NM_015175.3(NBEAL2):c.148G>A (p.Glu50Lys)	NBEAL2 (E43K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 900715	NM_015175.3(NBEAL2):c.165C>T (p.Val55=)	NBEAL2	Single nucleotide variant (synonymous variant)	Gray platelet syndrome	GUncertain significance
Select item 741341	NM_015175.3(NBEAL2):c.168G>A (p.Pro56=)	NBEAL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 713198	NM_015175.3(NBEAL2):c.187C>T (p.Leu63=)	NBEAL2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2653735	NM_015175.3(NBEAL2):c.201C>G (p.Ala67=)	NBEAL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1013472	NM_015175.3(NBEAL2):c.250del (p.Leu84fs)	NBEAL2 (L77fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2560039	NM_015175.3(NBEAL2):c.277G>C (p.Glu93Gln)	NBEAL2 (E86Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 900716	NM_015175.3(NBEAL2):c.277G>A (p.Glu93Lys)	NBEAL2 (E93K +1 more)	Single nucleotide variant (missense variant)	Gray platelet syndrome	GUncertain significance
Select item 2325981	NM_015175.3(NBEAL2):c.299G>A (p.Gly100Asp)	NBEAL2 (G93D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2653736	NM_015175.3(NBEAL2):c.339G>C (p.Lys113Asn)	NBEAL2 (K106N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1679805	NM_015175.3(NBEAL2):c.368C>G (p.Pro123Arg)	NBEAL2 (P116R +1 more)	Single nucleotide variant (missense variant)	Gray platelet syndrome	GUncertain significance
Select item 2329118	NM_015175.3(NBEAL2):c.371C>T (p.Pro124Leu)	NBEAL2 (P124L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1391899	NM_015175.3(NBEAL2):c.379C>T (p.Arg127Ter)	NBEAL2 (R120* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 345614	NM_015175.3(NBEAL2):c.384C>G (p.Gly128=)	NBEAL2	Single nucleotide variant (synonymous variant)	Gray platelet syndrome	GBenign
Select item 3036919	NM_015175.3(NBEAL2):c.387G>A (p.Thr129=)	NBEAL2	Single nucleotide variant (synonymous variant)	NBEAL2-related disorder	GLikely benign
Select item 3057432	NM_015175.3(NBEAL2):c.402G>A (p.Val134=)	NBEAL2	Single nucleotide variant (synonymous variant)	NBEAL2-related disorder	GLikely benign
Select item 900717	NM_015175.3(NBEAL2):c.406C>T (p.Leu136=)	NBEAL2	Single nucleotide variant (synonymous variant)	Gray platelet syndrome	GUncertain significance
Select item 3047668	NM_015175.3(NBEAL2):c.415C>T (p.Leu139=)	NBEAL2	Single nucleotide variant (synonymous variant)	NBEAL2-related disorder	GLikely benign
Select item 982271	NM_015175.3(NBEAL2):c.427G>A (p.Glu143Lys)	NBEAL2 (E136K +1 more)	Single nucleotide variant (missense variant)	Gray platelet syndrome	GUncertain significance
Select item 345615	NM_015175.3(NBEAL2):c.440A>G (p.Asp147Gly)	NBEAL2 (D147G +1 more)	Single nucleotide variant (missense variant)	Gray platelet syndrome	GUncertain significance
Select item 900718	NM_015175.3(NBEAL2):c.441C>T (p.Asp147=)	NBEAL2	Single nucleotide variant (synonymous variant)	Gray platelet syndrome	GUncertain significance
Select item 3298604	NM_015175.3(NBEAL2):c.466C>T (p.Arg156Cys)	NBEAL2 (R149C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 733336	NM_015175.3(NBEAL2):c.467G>A (p.Arg156His)	NBEAL2 (R149H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 809476	NM_015175.3(NBEAL2):c.474-4C>A	NBEAL2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 345616	NM_015175.3(NBEAL2):c.474-4C>T	NBEAL2	Single nucleotide variant (intron variant)	Gray platelet syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3298601	NM_015175.3(NBEAL2):c.482T>C (p.Ile161Thr)	NBEAL2 (I161T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179189	NM_015175.3(NBEAL2):c.506A>G (p.Tyr169Cys)	NBEAL2 (Y162C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 345617	NM_015175.3(NBEAL2):c.544G>A (p.Ala182Thr)	NBEAL2 (A182T +1 more)	Single nucleotide variant (missense variant)	Gray platelet syndrome +1 more	GUncertain significance
Select item 2302948	NM_015175.3(NBEAL2):c.554A>G (p.Gln185Arg)	NBEAL2 (Q178R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1231085	NM_015175.3(NBEAL2):c.556+154C>G	NBEAL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3233667	NM_015175.3(NBEAL2):c.579C>T (p.His193=)	NBEAL2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3050636	NM_015175.3(NBEAL2):c.588C>T (p.Pro196=)	NBEAL2	Single nucleotide variant (synonymous variant)	NBEAL2-related disorder	GLikely benign
Select item 1336004	NM_015175.3(NBEAL2):c.597G>A (p.Leu199=)	NBEAL2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 3179270	NM_015175.3(NBEAL2):c.602G>A (p.Arg201His)	NBEAL2 (R194H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1304415	NM_015175.3(NBEAL2):c.605T>G (p.Leu202Arg)	NBEAL2 (L195R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 627345	NM_015175.3(NBEAL2):c.607dup (p.Ile203fs)	NBEAL2 (I203fs +1 more)	Duplication (frameshift variant)	Gray platelet syndrome	GPathogenic
Select item 3298616	NM_015175.3(NBEAL2):c.626T>C (p.Val209Ala)	NBEAL2 (V202A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 345618	NM_015175.3(NBEAL2):c.634G>A (p.Gly212Arg)	NBEAL2 (G212R +1 more)	Single nucleotide variant (missense variant)	Gray platelet syndrome	GUncertain significance
Select item 3179308	NM_015175.3(NBEAL2):c.671G>C (p.Gly224Ala)	NBEAL2 (G217A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 902399	NM_015175.3(NBEAL2):c.682G>T (p.Gly228Cys)	NBEAL2 (G221C +1 more)	Single nucleotide variant (missense variant)	Gray platelet syndrome	GUncertain significance
Select item 345619	NM_015175.3(NBEAL2):c.690G>C (p.Leu230=)	NBEAL2	Single nucleotide variant (synonymous variant)	Gray platelet syndrome	GUncertain significance
Select item 2350906	NM_015175.3(NBEAL2):c.725C>T (p.Pro242Leu)	NBEAL2 (P242L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374431	NM_015175.3(NBEAL2):c.779T>C (p.Val260Ala)	NBEAL2 (V253A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 902400	NM_015175.3(NBEAL2):c.792C>T (p.Ser264=)	NBEAL2	Single nucleotide variant (synonymous variant)	Gray platelet syndrome	GUncertain significance
Select item 3179423	NM_015175.3(NBEAL2):c.805C>T (p.Arg269Cys)	NBEAL2 (R269C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 902401	NM_015175.3(NBEAL2):c.808G>A (p.Gly270Ser)	NBEAL2 (G270S +1 more)	Single nucleotide variant (missense variant)	Gray platelet syndrome	GUncertain significance
Select item 2270395	NM_015175.3(NBEAL2):c.821G>C (p.Arg274Pro)	NBEAL2 (R274P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312774	NM_015175.3(NBEAL2):c.842T>G (p.Phe281Cys)	NBEAL2 (F274C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 783307	NM_015175.3(NBEAL2):c.860A>C (p.Asp287Ala)	NBEAL2 (D280A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 783373	NM_015175.3(NBEAL2):c.872G>A (p.Gly291Asp)	NBEAL2 (G291D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3179447	NM_015175.3(NBEAL2):c.881C>T (p.Ser294Leu)	NBEAL2 (S294L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 31117	NM_015175.3(NBEAL2):c.881C>G (p.Ser294Ter)	NBEAL2 (S287*)	Single nucleotide variant (nonsense)	Gray platelet syndrome	GPathogenic
Select item 345620	NM_015175.3(NBEAL2):c.907C>G (p.Leu303Val)	NBEAL2 (L303V +1 more)	Single nucleotide variant (missense variant)	Gray platelet syndrome	GUncertain significance
Select item 593705	NM_015175.3(NBEAL2):c.913G>A (p.Val305Ile)	NBEAL2 (V305I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575410	NM_015175.3(NBEAL2):c.925+5del	NBEAL2	Deletion (intron variant)	not provided	GPathogenic
Select item 2248832	NM_015175.3(NBEAL2):c.940A>G (p.Met314Val)	NBEAL2 (M307V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 260575	NM_015175.3(NBEAL2):c.1033-28C>T	NBEAL2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 435924	NM_015175.3(NBEAL2):c.1038C>T (p.Tyr346=)	NBEAL2	Single nucleotide variant (synonymous variant +1 more)	Gray platelet syndrome +2 more	GBenign/Likely benign
Select item 2552797	NM_015175.3(NBEAL2):c.1049G>A (p.Arg350Gln)	NBEAL2 (R350Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2321618	NM_015175.3(NBEAL2):c.1052C>T (p.Ala351Val)	NBEAL2 (A351V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 345621	NM_015175.3(NBEAL2):c.1053G>A (p.Ala351=)	NBEAL2	Single nucleotide variant (synonymous variant +1 more)	Gray platelet syndrome	GUncertain significance
Select item 345622	NM_015175.3(NBEAL2):c.1081A>G (p.Thr361Ala)	NBEAL2 (T361A)	Single nucleotide variant (missense variant +1 more)	Gray platelet syndrome	GUncertain significance
Select item 2382780	NM_015175.3(NBEAL2):c.1084C>T (p.Arg362Trp)	NBEAL2 (R362W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 903257	NM_015175.3(NBEAL2):c.1102G>A (p.Asp368Asn)	NBEAL2 (D368N)	Single nucleotide variant (missense variant +1 more)	Gray platelet syndrome	GUncertain significance
Select item 2489728	NM_015175.3(NBEAL2):c.1108C>G (p.Gln370Glu)	NBEAL2 (Q370E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1328198	NM_015175.3(NBEAL2):c.1113+1G>A	NBEAL2	Single nucleotide variant (splice donor variant +1 more)	not provided	GLikely pathogenic
Select item 903258	NM_015175.3(NBEAL2):c.1114-9C>T	NBEAL2	Single nucleotide variant (intron variant)	Gray platelet syndrome	GUncertain significance
Select item 2329743	NM_015175.3(NBEAL2):c.1122C>G (p.Asp374Glu)	NBEAL2 (D374E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 903259	NM_015175.3(NBEAL2):c.1134C>T (p.Asp378=)	NBEAL2	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 2634607	NM_015175.3(NBEAL2):c.1147C>A (p.His383Asn)	NBEAL2 (H349N +1 more)	Single nucleotide variant (missense variant)	NBEAL2-related disorder	GUncertain significance
Select item 899650	NM_015175.3(NBEAL2):c.1156A>G (p.Arg386Gly)	NBEAL2 (R352G +1 more)	Single nucleotide variant (missense variant)	Gray platelet syndrome	GUncertain significance
Select item 31118	NM_015175.3(NBEAL2):c.1163T>C (p.Leu388Pro)	NBEAL2 (L388P +1 more)	Single nucleotide variant (missense variant)	Gray platelet syndrome	GPathogenic
Select item 1282302	NM_015175.3(NBEAL2):c.1197+115G>A	NBEAL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226357	NM_015175.3(NBEAL2):c.1198-210T>G	NBEAL2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 260576	NM_015175.3(NBEAL2):c.1198-45C>T	NBEAL2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 345623	NM_015175.3(NBEAL2):c.1212G>A (p.Glu404=)	NBEAL2	Single nucleotide variant (synonymous variant)	Gray platelet syndrome +1 more	GUncertain significance
Select item 3178898	NM_015175.3(NBEAL2):c.1253A>G (p.His418Arg)	NBEAL2 (H418R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3178902	NM_015175.3(NBEAL2):c.1255G>T (p.Gly419Cys)	NBEAL2 (G419C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 345624	NM_015175.3(NBEAL2):c.1271G>A (p.Arg424Gln)	NBEAL2 (R424Q +1 more)	Single nucleotide variant (missense variant)	Gray platelet syndrome	GUncertain significance
Select item 3178907	NM_015175.3(NBEAL2):c.1307G>A (p.Gly436Asp)	NBEAL2 (G402D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3178911	NM_015175.3(NBEAL2):c.1333C>T (p.Pro445Ser)	NBEAL2 (P445S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555687	NM_015175.3(NBEAL2):c.1339C>T (p.Arg447Cys)	NBEAL2 (R413C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 260577	NM_015175.3(NBEAL2):c.1340G>A (p.Arg447His)	NBEAL2 (R447H +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 899651	NM_015175.3(NBEAL2):c.1344C>T (p.Asn448=)	NBEAL2	Single nucleotide variant (synonymous variant)	Gray platelet syndrome	GUncertain significance
Select item 719074	NM_015175.3(NBEAL2):c.1351C>G (p.Pro451Ala)	NBEAL2 (P417A +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 260578	NM_015175.3(NBEAL2):c.1353G>A (p.Pro451=)	NBEAL2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign

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