CACNB1[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 152111	GRCh38/hg38 17q12(chr17:39036037-39694679)x3	ARL5C, CACNB1 +50 more	Copy number gain	See cases	GLikely benign
Select item 3136482	NM_000723.5(CACNB1):c.1769G>A (p.Gly590Asp)	CACNB1 (G590D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615015	NM_000723.5(CACNB1):c.1687C>T (p.Arg563Trp)	CACNB1 (R563W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285101	NM_000723.5(CACNB1):c.1667A>G (p.Glu556Gly)	CACNB1 (E556G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488184	NM_000723.5(CACNB1):c.1643G>T (p.Trp548Leu)	CACNB1 (W548L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523258	NM_000723.5(CACNB1):c.1602C>A (p.Asp534Glu)	CACNB1 (D534E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286329	NM_000723.5(CACNB1):c.1600G>A (p.Asp534Asn)	CACNB1 (D534N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547831	NM_000723.5(CACNB1):c.1591G>T (p.Gly531Trp)	CACNB1 (G531W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 780422	NM_000723.5(CACNB1):c.1461G>A (p.Arg487=)	CACNB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2647708	NM_000723.5(CACNB1):c.1431C>A (p.Gly477=)	CACNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 785568	NM_000723.5(CACNB1):c.1392C>T (p.Ser464=)	CACNB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3136481	NM_000723.5(CACNB1):c.1378G>A (p.Gly460Arg)	CACNB1 (G460R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136480	NM_000723.5(CACNB1):c.1288A>G (p.Thr430Ala)	CACNB1 (T430A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476759	NM_000723.5(CACNB1):c.1234A>G (p.Thr412Ala)	CACNB1 (T412A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541344	NM_000723.5(CACNB1):c.1219G>A (p.Ala407Thr)	CACNB1 (A407T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136479	NM_000723.5(CACNB1):c.1217A>T (p.Glu406Val)	CACNB1 (E451V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312876	NM_000723.5(CACNB1):c.1195G>A (p.Glu399Lys)	CACNB1 (E444K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476870	NM_000723.5(CACNB1):c.1141C>A (p.Pro381Thr)	CACNB1 (P381T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647709	NM_000723.5(CACNB1):c.1116G>A (p.Ala372=)	CACNB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2384267	NM_000723.5(CACNB1):c.988G>A (p.Ala330Thr)	CACNB1 (A375T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262844	NM_000723.5(CACNB1):c.847A>C (p.Asn283His)	CACNB1 (N283H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262842	NM_000723.5(CACNB1):c.833G>A (p.Arg278His)	CACNB1 (R278H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 808256	NM_000723.5(CACNB1):c.730G>T (p.Val244Phe)	CACNB1 (V244F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3136485	NM_000723.5(CACNB1):c.698T>C (p.Ile233Thr)	CACNB1 (I278T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471275	NM_000723.5(CACNB1):c.662C>T (p.Pro221Leu)	CACNB1 (P221L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275699	NM_000723.5(CACNB1):c.656A>G (p.His219Arg)	CACNB1 (H219R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 252495	NM_000723.5(CACNB1):c.649-4C>A	CACNB1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2647710	NM_000723.5(CACNB1):c.628+426C>T	CACNB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3136484	NM_000723.5(CACNB1):c.596C>T (p.Thr199Ile)	CACNB1 (T199I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136483	NM_000723.5(CACNB1):c.530G>A (p.Arg177His)	CACNB1 (R177H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616042	NM_000723.5(CACNB1):c.439G>A (p.Gly147Arg)	CACNB1 (G147R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262843	NM_000723.5(CACNB1):c.353A>G (p.Glu118Gly)	CACNB1 (E118G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352639	NM_000723.5(CACNB1):c.239C>G (p.Ala80Gly)	CACNB1 (A80G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136486	NM_000723.5(CACNB1):c.70G>A (p.Asp24Asn)	CACNB1 (D24N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647711	NM_000723.5(CACNB1):c.63G>A (p.Glu21=)	CACNB1, LOC130060751	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 815934	GRCh37/hg19 17q12(chr17:37323328-37551861)x3	CACNB1, STAC2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 688925	GRCh37/hg19 17q12(chr17:37190609-37868002)x3	ARL5C, CACNB1 +13 more	Copy number gain	not provided	GUncertain significance
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 564444	GRCh37/hg19 17q12(chr17:36972794-38033708)x4	STARD3, CDK12 +22 more	Copy number gain	not provided	GUncertain significance
Select item 443556	GRCh37/hg19 17q12(chr17:37313691-37868516)x3	ARL5C, CACNB1 +12 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic

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Items: 45