BDNF[gene] - ClinVar

Search results

Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154432	GRCh38/hg38 11p15.1-13(chr11:20079474-34463996)x1	ABTB2, ANO3 +283 more	Copy number loss	See cases	GPathogenic
Select item 58858	GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1	PAX6_HS3, PAX6_HS8 +334 more	Copy number loss	See cases	GPathogenic
Select item 148655	GRCh38/hg38 11p14.3-14.1(chr11:23024064-27978597)x1	ANO3, ANO3-AS1 +47 more	Copy number loss	See cases	GLikely pathogenic
Select item 145522	GRCh38/hg38 11p14.3-13(chr11:24595399-31096539)x3	ANO3, ANO3-AS1 +71 more	Copy number gain	See cases	GPathogenic
Select item 145969	GRCh38/hg38 11p14.2-13(chr11:26368962-35252976)x1	LOC129390275, LOC129390276 +255 more	Copy number loss	See cases	GPathogenic
Select item 2636918	NM_001709.5(BDNF):c.691A>G (p.Ile231Val)	BDNF, BDNF-AS (I231V +4 more)	Single nucleotide variant (missense variant)	BDNF-related disorder	GUncertain significance
Select item 2630210	NM_001709.5(BDNF):c.659T>C (p.Met220Thr)	BDNF, BDNF-AS (M220T +4 more)	Single nucleotide variant (missense variant)	BDNF-related disorder	GUncertain significance
Select item 1298509	NM_001709.5(BDNF):c.643G>A (p.Val215Met)	BDNF, BDNF-AS (V215M +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 771888	NM_001709.5(BDNF):c.642C>T (p.Tyr214=)	BDNF, BDNF-AS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 718660	NM_001709.5(BDNF):c.639G>A (p.Ser213=)	BDNF, BDNF-AS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2845218	NM_001709.5(BDNF):c.610del (p.Trp204fs)	BDNF, BDNF-AS (W212fs +4 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2054554	NM_001709.5(BDNF):c.609T>C (p.His203=)	BDNF, BDNF-AS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 981928	NM_001709.5(BDNF):c.557G>A (p.Cys186Tyr)	BDNF, BDNF-AS (C186Y +4 more)	Single nucleotide variant (missense variant)	Obesity	GLikely pathogenic
Select item 712726	NM_001709.5(BDNF):c.546C>T (p.Tyr182=)	BDNF, BDNF-AS	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 521383	NM_001709.5(BDNF):c.502G>T (p.Glu168Ter)	BDNF, BDNF-AS (E168* +4 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GLikely pathogenic
Select item 793495	NM_001709.5(BDNF):c.483C>A (p.Gly161=)	BDNF, BDNF-AS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 743862	NM_001709.5(BDNF):c.483C>T (p.Gly161=)	BDNF, BDNF-AS	Single nucleotide variant (synonymous variant)	BDNF-related disorder +1 more	GLikely benign
Select item 3043298	NM_001709.5(BDNF):c.480G>A (p.Ser160=)	BDNF, BDNF-AS	Single nucleotide variant (synonymous variant)	BDNF-related disorder	GLikely benign
Select item 3030169	NM_001709.5(BDNF):c.465T>C (p.Thr155=)	BDNF, BDNF-AS	Single nucleotide variant (synonymous variant)	BDNF-related disorder	GLikely benign
Select item 783114	NM_001709.5(BDNF):c.450G>A (p.Ala150=)	BDNF, BDNF-AS	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 179329	NM_001709.5(BDNF):c.450= (p.Ala150=)	BDNF, BDNF-AS	Single nucleotide variant (no sequence alteration)	not specified +1 more	GBenign
Select item 2309743	NM_001709.5(BDNF):c.447G>A (p.Thr149=)	BDNF, BDNF-AS	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 709884	NM_001709.5(BDNF):c.417C>T (p.Ser139=)	BDNF, BDNF-AS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2001803	NM_001709.5(BDNF):c.366G>T (p.Met122Ile)	BDNF, BDNF-AS (M130I +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2628764	NM_001709.5(BDNF):c.365T>C (p.Met122Thr)	BDNF, BDNF-AS (M122T +4 more)	Single nucleotide variant (missense variant)	BDNF-related disorder	GUncertain significance
Select item 1962512	NM_001709.5(BDNF):c.323T>A (p.Phe108Tyr)	BDNF, BDNF-AS (F116Y +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 736217	NM_001709.5(BDNF):c.321C>G (p.Leu107=)	BDNF, BDNF-AS	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3045600	NM_001709.5(BDNF):c.309G>A (p.Glu103=)	BDNF, BDNF-AS	Single nucleotide variant (non-coding transcript variant +1 more)	BDNF-related disorder	GLikely benign
Select item 1572707	NM_001709.5(BDNF):c.273G>A (p.Thr91=)	BDNF, BDNF-AS	Single nucleotide variant (non-coding transcript variant +1 more)	BDNF-related disorder +1 more	GLikely benign
Select item 2759722	NM_001709.5(BDNF):c.258C>T (p.Asp86=)	BDNF, BDNF-AS	Single nucleotide variant (non-coding transcript variant +1 more)	BDNF-related disorder +1 more	GLikely benign
Select item 3058922	NM_001709.5(BDNF):c.239A>G (p.Asn80Ser)	BDNF, BDNF-AS (N109S +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	BDNF-related disorder	GUncertain significance
Select item 2263987	NM_001709.5(BDNF):c.233G>A (p.Arg78Gln)	BDNF, BDNF-AS (R93Q +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2628592	NM_001709.5(BDNF):c.226A>G (p.Lys76Glu)	BDNF, BDNF-AS (K105E +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	BDNF-related disorder	GUncertain significance
Select item 2411940	NM_001709.5(BDNF):c.223C>G (p.Gln75Glu)	BDNF, BDNF-AS (Q157E +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3024130	NM_001709.5(BDNF):c.[*1785G>T;-21-14109C>G196G>A]	BDNF, BDNF-AS (V66M +4 more)	Single nucleotide variant (non-coding transcript variant +3 more)	Post-traumatic stress disorder	GLikely risk allele
Select item 17697	NM_001709.5(BDNF):c.196G>A (p.Val66Met)	BDNF, BDNF-AS (V66M +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GBenign
Select item 3058089	NM_001709.5(BDNF):c.195C>T (p.His65=)	BDNF, BDNF-AS	Single nucleotide variant (non-coding transcript variant +1 more)	BDNF-related disorder	GLikely benign
Select item 2282360	NM_001709.5(BDNF):c.184A>G (p.Thr62Ala)	BDNF, BDNF-AS (T77A +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2961667	NM_001709.5(BDNF):c.172T>C (p.Ser58Pro)	BDNF, BDNF-AS (S140P +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2276870	NM_001709.5(BDNF):c.170C>A (p.Thr57Lys)	BDNF, BDNF-AS (T86K +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2248741	NM_001709.5(BDNF):c.164G>T (p.Gly55Val)	BDNF, BDNF-AS (G55V +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3050887	NM_001709.5(BDNF):c.154G>A (p.Gly52Ser)	BDNF, BDNF-AS (G134S +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	BDNF-related disorder	GUncertain significance
Select item 2636085	NM_001709.5(BDNF):c.136G>A (p.Val46Met)	BDNF, BDNF-AS (V128M +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 3060439	NM_001709.5(BDNF):c.135C>T (p.Ser45=)	BDNF, BDNF-AS	Single nucleotide variant (non-coding transcript variant +1 more)	BDNF-related disorder	GLikely benign
Select item 2275525	NM_001709.5(BDNF):c.128T>C (p.Leu43Pro)	BDNF, BDNF-AS (L125P +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2634377	NM_001709.5(BDNF):c.113G>A (p.Arg38Gln)	BDNF, BDNF-AS (R120Q +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	BDNF-related disorder	GUncertain significance
Select item 3030850	NM_001709.5(BDNF):c.102C>T (p.Tyr34=)	BDNF, BDNF-AS	Single nucleotide variant (synonymous variant)	BDNF-related disorder	GLikely benign
Select item 2634388	NM_001709.5(BDNF):c.92G>A (p.Gly31Asp)	BDNF, BDNF-AS (G113D +4 more)	Single nucleotide variant (missense variant)	BDNF-related disorder	GUncertain significance
Select item 2837548	NM_001709.5(BDNF):c.72A>G (p.Ala24=)	BDNF, BDNF-AS	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2287155	NM_001709.5(BDNF):c.70G>A (p.Ala24Thr)	BDNF, BDNF-AS (A106T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2098530	NM_001709.5(BDNF):c.49A>G (p.Lys17Glu)	BDNF, BDNF-AS (K17E +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2631517	NM_001709.5(BDNF):c.5C>A (p.Thr2Asn)	BDNF, BDNF-AS (T10N +4 more)	Single nucleotide variant (missense variant)	BDNF-related disorder	GUncertain significance
Select item 17696	NM_001709.5(BDNF):c.5C>T (p.Thr2Ile)	BDNF, BDNF-AS (T2I +4 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1260492	NM_001709.5(BDNF):c.-21-1064CA[11]	BDNF, BDNF-AS	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1258199	NM_001709.5(BDNF):c.-21-1044G>C	BDNF, BDNF-AS	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1224644	NM_001709.5(BDNF):c.-21-1064CA[13]	BDNF, BDNF-AS	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1287138	NM_001709.5(BDNF):c.-21-1065G>A	BDNF, BDNF-AS	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1287949	NM_001709.5(BDNF):c.-21-1256G>A	BDNF, BDNF-AS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287893	NM_001709.5(BDNF):c.-21-15304=	BDNF, BDNF-AS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238836	NM_001709.5(BDNF):c.-21-15332T>C	BDNF-AS, BDNF	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2631964	NM_001709.5(BDNF):c.-21-15481C>A	BDNF, BDNF-AS (F73L)	Single nucleotide variant (missense variant +2 more)	BDNF-related disorder	GUncertain significance
Select item 2635840	NM_001709.5(BDNF):c.-21-15487T>G	BDNF, BDNF-AS (N71K)	Single nucleotide variant (missense variant +2 more)	BDNF-related disorder	GUncertain significance
Select item 2634443	NM_001709.5(BDNF):c.-21-15496C>G	BDNF, BDNF-AS (I68M)	Single nucleotide variant (missense variant +2 more)	BDNF-related disorder	GUncertain significance
Select item 2633136	NM_001709.5(BDNF):c.-21-15533T>C	BDNF, BDNF-AS (V56A)	Single nucleotide variant (missense variant +2 more)	BDNF-related disorder	GUncertain significance
Select item 3048025	NM_001709.5(BDNF):c.-21-15571A>G	BDNF, BDNF-AS	Single nucleotide variant (synonymous variant +2 more)	BDNF-related disorder	GLikely benign
Select item 3030133	NM_001709.5(BDNF):c.-21-15592C>T	BDNF-AS, BDNF	Single nucleotide variant (synonymous variant +2 more)	BDNF-related disorder	GLikely benign
Select item 1299836	NM_001709.5(BDNF):c.-21-15601_-21-15600del	BDNF, BDNF-AS (C34fs)	Deletion (frameshift variant +2 more)	BDNF-related disorder	GLikely benign
Select item 3034836	NM_001709.5(BDNF):c.-21-15601A>G	BDNF, BDNF-AS	Single nucleotide variant (synonymous variant +2 more)	BDNF-related disorder	GLikely benign
Select item 3046400	NM_001709.5(BDNF):c.-21-15610G>A	BDNF, BDNF-AS	Single nucleotide variant (synonymous variant +2 more)	BDNF-related disorder	GLikely benign
Select item 559486	NM_001709.5(BDNF):c.-21-15633G>A	BDNF, BDNF-AS (E23K)	Single nucleotide variant (missense variant +2 more)	Obesity	GBenign
Select item 1284643	NM_001709.5(BDNF):c.-21-15653T>C	BDNF, BDNF-AS (L16P)	Single nucleotide variant (missense variant +2 more)	not specified	GBenign
Select item 2634288	NM_001709.5(BDNF):c.-21-15659_-21-15656dup	BDNF, BDNF-AS (L16fs)	Duplication (frameshift variant +2 more)	BDNF-related disorder	GUncertain significance
Select item 503514	NM_001709.5(BDNF):c.-21-15685_-21-15684del	BDNF, BDNF-AS (S6fs)	Deletion (frameshift variant +2 more)	not specified	GUncertain significance
Select item 1276343	NM_001709.5(BDNF):c.-21-15778G>T	BDNF, BDNF-AS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 162789	NM_001709.5(BDNF):c.-22+774G>A	BDNF (E6K)	Single nucleotide variant (missense variant +1 more)	not specified	GBenign
Select item 504942	NM_001709.5(BDNF):c.-22+764G>C	BDNF (Q2H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 17698	NM_001709.5(BDNF):c.-46C>T	BDNF	Single nucleotide variant (5 prime UTR variant +1 more)	Variant of unknown significance	GUncertain significance
Select item 3044706	NM_001143809.2(BDNF):c.66+8T>C	BDNF	Single nucleotide variant (intron variant)	BDNF-related disorder	GLikely benign
Select item 1050281	NM_001143808.2(BDNF):c.-22+2T>G	BDNF (C20G)	Single nucleotide variant (missense variant +3 more)	BDNF-related disorder	GUncertain significance
Select item 2635757	NM_001143809.2(BDNF):c.49G>A (p.Ala17Thr)	BDNF (A17T)	Single nucleotide variant (5 prime UTR variant +2 more)	BDNF-related disorder	GUncertain significance
Select item 3050817	NM_001143809.2(BDNF):c.39G>C (p.Lys13Asn)	BDNF (K13N)	Single nucleotide variant (5 prime UTR variant +2 more)	BDNF-related disorder	GLikely benign
Select item 1711090	GRCh37/hg19 11p14.1(chr11:27382897-29172035)x1	BDNF, BDNF-AS +6 more	Copy number loss	See cases	GUncertain significance
Select item 1695895	GRCh37/hg19 11p14.1-13(chr11:27547893-31656604)x1	BDNF, BDNF-AS +11 more	Copy number loss	not provided	Gnot provided
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	RASSF10, RCN1 +116 more	Copy number gain	not provided	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CCKBR, OR56A4 +343 more	Copy number gain	not provided	GPathogenic
Select item 688898	GRCh37/hg19 11p14.3-13(chr11:22079154-35597645)x1	ABTB2, ANO3 +55 more	Copy number loss	not provided	GPathogenic
Select item 563874	GRCh37/hg19 11p14.3-14.1(chr11:25090108-28909131)x3	BBOX1, CCDC34 +12 more	Copy number gain	not provided	GUncertain significance
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	ABCC8, ADM +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441893	GRCh37/hg19 11p14.3-13(chr11:25771208-35614978)x1	ABTB2, ANO3 +48 more	Copy number loss	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	OR2AG2, OR2D2 +364 more	Copy number gain	See cases	GPathogenic
Select item 441612	GRCh37/hg19 11p14.1-12(chr11:27588560-41770792)x1	ABTB2, APIP +50 more	Copy number loss	See cases	GPathogenic
Select item 376759	GRCh37/hg19 11p15.1-13(chr11:21586131-33168232)x1	KCNA4, KIF18A +39 more	Copy number loss	Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome	GPathogenic
Select item 376757	GRCh37/hg19 11p15.1-13(chr11:18536224-31923308)x1	DCDC1, DNAJC24 +44 more	Copy number loss	Aniridia 1	GPathogenic
Select item 253976	GRCh37/hg19 11p14.1(chr11:27407012-28000144)x3	LIN7C, BDNF +2 more	Copy number gain	See cases	GUncertain significance

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Items: 97