CACNB3[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 2559146	NM_000725.4(CACNB3):c.5A>T (p.Tyr2Phe)	CACNB3 (Y2F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262869	NM_000725.4(CACNB3):c.17A>G (p.Tyr6Cys)	CACNB3 (Y6C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136495	NM_000725.4(CACNB3):c.38C>T (p.Ser13Leu)	CACNB3 (S13L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136497	NM_000725.4(CACNB3):c.62A>G (p.Tyr21Cys)	CACNB3 (Y20C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474216	NM_000725.4(CACNB3):c.71G>T (p.Arg24Leu)	CACNB3 (R24L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469925	NM_000725.4(CACNB3):c.91G>A (p.Val31Ile)	CACNB3 (V31I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590978	NM_000725.4(CACNB3):c.110G>A (p.Arg37Gln)	CACNB3 (R36Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335333	NM_000725.4(CACNB3):c.122G>A (p.Arg41Gln)	CACNB3 (R40Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519865	NM_000725.4(CACNB3):c.188C>T (p.Ala63Val)	CACNB3 (A63V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283419	NM_000725.4(CACNB3):c.280C>T (p.His94Tyr)	CACNB3 (H81Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529446	NM_000725.4(CACNB3):c.301A>C (p.Asn101His)	CACNB3 (N100H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311881	NM_000725.4(CACNB3):c.319C>T (p.Arg107Trp)	CACNB3 (R106W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307914	NM_000725.4(CACNB3):c.367C>T (p.Arg123Cys)	CACNB3 (R110C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491100	NM_000725.4(CACNB3):c.379A>G (p.Ile127Val)	CACNB3 (I86V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372066	NM_000725.4(CACNB3):c.392A>T (p.Gln131Leu)	CACNB3 (Q118L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788882	NM_000725.4(CACNB3):c.408-8C>A	CACNB3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2524214	NM_000725.4(CACNB3):c.421C>G (p.Pro141Ala)	CACNB3 (P100A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262320	NM_000725.4(CACNB3):c.439A>T (p.Ile147Phe)	CACNB3 (I106F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350697	NM_000725.4(CACNB3):c.449G>A (p.Arg150Gln)	CACNB3 (R149Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383454	NM_000725.4(CACNB3):c.451C>T (p.Arg151Cys)	CACNB3 (R138C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379513	NM_000725.4(CACNB3):c.517G>A (p.Val173Met)	CACNB3 (V132M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262868	NM_000725.4(CACNB3):c.698G>A (p.Gly233Asp)	CACNB3 (G220D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136498	NM_000725.4(CACNB3):c.721T>G (p.Ser241Ala)	CACNB3 (S200A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262867	NM_000725.4(CACNB3):c.868G>A (p.Val290Ile)	CACNB3 (V290I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335064	NM_000725.4(CACNB3):c.985C>T (p.Pro329Ser)	CACNB3 (P316S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136491	NM_000725.4(CACNB3):c.1117C>G (p.Pro373Ala)	CACNB3 (P332A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483419	NM_000725.4(CACNB3):c.1129C>G (p.Pro377Ala)	CACNB3 (P336A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136492	NM_000725.4(CACNB3):c.1161G>C (p.Glu387Asp)	CACNB3 (E346D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225977	NM_000725.4(CACNB3):c.1189C>T (p.Arg397Trp)	CACNB3 (R384W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367730	NM_000725.4(CACNB3):c.1190G>A (p.Arg397Gln)	CACNB3 (R396Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262866	NM_000725.4(CACNB3):c.1259G>A (p.Arg420His)	CACNB3 (R379H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136493	NM_000725.4(CACNB3):c.1273C>G (p.Leu425Val)	CACNB3 (L384V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265486	NM_000725.4(CACNB3):c.1322G>A (p.Arg441His)	CACNB3 (R400H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136494	NM_000725.4(CACNB3):c.1429C>T (p.Arg477Trp)	CACNB3 (R464W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352786	NM_000725.4(CACNB3):c.1439C>G (p.Pro480Arg)	CACNB3 (P439R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244281	NC_000012.11:g.(?_49162374)_(49437585_?)dup	ADCY6, ARF3 +10 more	Duplication	Kabuki syndrome	GUncertain significance
Select item 1527702	GRCh37/hg19 12q11-13.12(chr12:37857750-49791459)	ABCD2, ADAMTS20 +72 more	Copy number gain	not specified	GPathogenic
Select item 1048618	GRCh37/hg19 12q11-13.12(chr12:37873948-49578619)x3	PPHLN1, PRICKLE1 +66 more	Copy number gain	See cases	GLikely pathogenic
Select item 979964	GRCh37/hg19 12q13.11-13.12(chr12:49024019-50299974)x3	ADCY6, ARF3 +32 more	Copy number gain	not provided	GUncertain significance
Select item 688471	GRCh37/hg19 12q13.11-13.12(chr12:48944713-49265377)x3	KANSL2, LALBA +5 more	Copy number gain	not provided	GUncertain significance
Select item 633775	GRCh37/hg19 12q13.11-13.12(chr12:49034325-49468966)x1	ADCY6, ARF3 +13 more	Copy number loss	Kabuki syndrome 1	GPathogenic
Select item 563945	GRCh37/hg19 12q13.12(chr12:49191810-49630201)x3	CCDC65, WNT10B +14 more	Copy number gain	not provided	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 394378	GRCh37/hg19 12q13.11-13.12(chr12:48961450-49255821)x3	ADCY6, CACNB3 +5 more	Copy number gain	See cases	GUncertain significance
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 221992	GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3	ABCD2, ADAMTS20 +92 more	Copy number gain	See cases	GPathogenic

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Items: 49