BDKRB1[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	ABCD4, ACYP1 +1421 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1202 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056672, LOC130056673 +1071 more	Copy number gain	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	ADSS1, AHNAK2 +880 more	Copy number gain	See cases	GPathogenic
Select item 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	ADSS1, AK7 +662 more	Copy number gain	See cases	GPathogenic
Select item 146793	GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1	ADSS1, AHNAK2 +754 more	Copy number loss	See cases	GPathogenic
Select item 208237	NC_000014.9:g.95696766_96390792dup	LOC126862036, LOC126862037 +30 more	Duplication	Thrombocythemia 1 +2 more	GLikely pathogenic
Select item 58336	GRCh38/hg38 14q32.13-32.2(chr14:95787358-96453757)x3	AK7, ATG2B +20 more	Copy number gain	See cases	GUncertain significance
Select item 2615353	NM_000710.4(BDKRB1):c.85G>C (p.Ala29Pro)	BDKRB1 (A29P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2563690	NM_000710.4(BDKRB1):c.101A>T (p.Asp34Val)	BDKRB1 (D34V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223038	NM_000710.4(BDKRB1):c.199C>T (p.Arg67Trp)	BDKRB1 (R67W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376835	NM_000710.4(BDKRB1):c.212T>C (p.Val71Ala)	BDKRB1 (V71A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509192	NM_000710.4(BDKRB1):c.248A>C (p.Asp83Ala)	BDKRB1 (D83A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361905	NM_000710.4(BDKRB1):c.342C>G (p.Asn114Lys)	BDKRB1 (N114K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133601	NM_000710.4(BDKRB1):c.343G>A (p.Gly115Arg)	BDKRB1 (G115R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385742	NM_000710.4(BDKRB1):c.373A>G (p.Ile125Val)	BDKRB1 (I125V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465352	NM_000710.4(BDKRB1):c.412G>A (p.Val138Met)	BDKRB1 (V138M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214908	NM_000710.4(BDKRB1):c.427A>G (p.Met143Val)	BDKRB1 (M143V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294106	NM_000710.4(BDKRB1):c.437G>A (p.Arg146Gln)	BDKRB1 (R146Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3133602	NM_000710.4(BDKRB1):c.451C>T (p.Arg151Trp)	BDKRB1 (R151W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404433	NM_000710.4(BDKRB1):c.475G>A (p.Val159Met)	BDKRB1 (V159M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320931	NM_000710.4(BDKRB1):c.535C>G (p.Gln179Glu)	BDKRB1 (Q179E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605048	NM_000710.4(BDKRB1):c.570C>G (p.Ile190Met)	BDKRB1 (I190M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220497	NM_000710.4(BDKRB1):c.583C>A (p.His195Asn)	BDKRB1 (H195N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357745	NM_000710.4(BDKRB1):c.584A>G (p.His195Arg)	BDKRB1 (H195R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271339	NM_000710.4(BDKRB1):c.661T>A (p.Phe221Ile)	BDKRB1 (F221I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250494	NM_000710.4(BDKRB1):c.683C>T (p.Ser228Phe)	BDKRB1 (S228F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467990	NM_000710.4(BDKRB1):c.692C>T (p.Thr231Met)	BDKRB1 (T231M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597810	NM_000710.4(BDKRB1):c.694C>T (p.Arg232Trp)	BDKRB1 (R232W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472133	NM_000710.4(BDKRB1):c.787T>C (p.Trp263Arg)	BDKRB1 (W263R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366170	NM_000710.4(BDKRB1):c.845G>A (p.Arg282Gln)	BDKRB1 (R282Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3133604	NM_000710.4(BDKRB1):c.908C>T (p.Thr303Ile)	BDKRB1 (T303I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 788119	NM_000710.4(BDKRB1):c.928G>C (p.Val310Leu)	BDKRB1 (V310L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2344039	NM_000710.4(BDKRB1):c.1006G>C (p.Ala336Pro)	BDKRB1 (A336P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684743	GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	ADSS1, AHNAK2 +182 more	Copy number gain	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 2427518	NC_000014.8:g.(?_95080779)_(97347545_?)dup	PAPOLA, PAPOLA-DT +17 more	Duplication	not provided	GUncertain significance
Select item 2425566	NC_000014.8:g.(?_90429459)_(97347545_?)dup	SNHG10, TDP1 +66 more	Duplication	not provided	GUncertain significance
Select item 1807775	GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3	ADSS1, AHNAK2 +185 more	Copy number gain	not provided	GPathogenic
Select item 1807735	GRCh37/hg19 14q31.1-32.2(chr14:81593708-97059276)x3	OTUB2, PAPOLA +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 1340262	GRCh37/hg19 14q32.13-32.31(chr14:95871795-102457523)x1	AK7, ATG2B +56 more	Copy number loss	not provided	GPathogenic
Select item 815676	GRCh37/hg19 14q32.2(chr14:96509822-96832238)x3	C14orf132, BDKRB2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 813277	GRCh37/hg19 14q31.2-32.2(chr14:84783523-96907490)x1	SERPINA10, SERPINA11 +74 more	Copy number loss	Deletion syndrome	GPathogenic
Select item 687996	GRCh37/hg19 14q32.12-32.33(chr14:91969028-107285437)x3	BTBD6, MIR369 +164 more	Copy number gain	not provided	GPathogenic
Select item 564136	GRCh37/hg19 14q31.2-32.2(chr14:84783137-96908198)x1	AK7, ASB2 +74 more	Copy number loss	not provided	GPathogenic
Select item 564120	GRCh37/hg19 14q32.2(chr14:96641506-97154180)x3	BDKRB1, PAPOLA-DT +5 more	Copy number gain	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	NUMB, OTUB2 +261 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ERG28, OR11G2 +635 more	Copy number gain	See cases	GPathogenic

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Items: 52