KCNAB2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 58242	GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1	ATAD3C, AURKAIP1 +520 more	Copy number loss	See cases	GPathogenic
Select item 58244	GRCh38/hg38 1p36.33-36.31(chr1:629044-7008678)x1	LOC129929144, LOC129929145 +458 more	Copy number loss	See cases	GPathogenic
Select item 149968	GRCh38/hg38 1p36.33-36.31(chr1:821713-7000838)x1	ACAP3, ACOT7 +449 more	Copy number loss	See cases	GPathogenic
Select item 154642	GRCh38/hg38 1p36.33-36.23(chr1:844347-7870545)x1	ACAP3, ACOT7 +470 more	Copy number loss	See cases	GPathogenic
Select item 147521	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	TMEM201, TMEM240 +806 more	Copy number loss	See cases	GPathogenic
Select item 147354	GRCh38/hg38 1p36.33-36.23(chr1:844347-8171914)x1	ACAP3, ACOT7 +490 more	Copy number loss	See cases	GPathogenic
Select item 144461	GRCh38/hg38 1p36.33-36.31(chr1:844347-6916587)x1	PLEKHN1, PRDM16 +441 more	Copy number loss	See cases	GPathogenic
Select item 57440	GRCh38/hg38 1p36.33-36.31(chr1:844347-6477436)x1	ACAP3, ACOT7 +401 more	Copy number loss	See cases	GPathogenic
Select item 150566	GRCh38/hg38 1p36.33-36.31(chr1:844353-6477474)x1	LOC129929181, LOC129929182 +401 more	Copy number loss	See cases	GPathogenic
Select item 58294	GRCh38/hg38 1p36.33-36.23(chr1:859215-8747647)x1	ACAP3, ACOT7 +519 more	Copy number loss	See cases	GPathogenic
Select item 154584	GRCh38/hg38 1p36.33-36.23(chr1:898721-7811306)x1	SDF4, SKI +464 more	Copy number loss	See cases	GPathogenic
Select item 153078	GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1	ACAP3, ACOT7 +578 more	Copy number loss	See cases	GPathogenic
Select item 154548	GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1	ACAP3, ACOT7 +564 more	Copy number loss	See cases	GPathogenic
Select item 153663	GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1	LOC129929186, LOC129929187 +577 more	Copy number loss	See cases	GPathogenic
Select item 57390	GRCh38/hg38 1p36.32-36.23(chr1:2844760-8007940)x1	ACOT7, ACTRT2 +226 more	Copy number loss	See cases	GPathogenic
Select item 152936	GRCh38/hg38 1p36.32-36.23(chr1:2868477-7332569)x1	LOC112577578, LOC112577579 +199 more	Copy number loss	See cases	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	AADACL3, AADACL4 +804 more	Copy number loss	See cases	GPathogenic
Select item 59852	GRCh38/hg38 1p36.32-36.23(chr1:3472163-7842947)x1	ACOT7, AJAP1 +193 more	Copy number loss	See cases	GPathogenic
Select item 58041	GRCh38/hg38 1p36.32-36.31(chr1:4799319-6129675)x3	CHD5, KCNAB2 +27 more	Copy number gain	See cases	GPathogenic
Select item 148387	GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1	AADACL3, AADACL4 +500 more	Copy number loss	See cases	GPathogenic
Select item 59856	GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1	AADACL3, AADACL4 +505 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	LOC129929300, LOC129929301 +730 more	Copy number loss	See cases	GPathogenic
Select item 2638112	NM_003636.4(KCNAB2):c.17C>T (p.Thr6Met)	KCNAB2 (T6M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2487890	NM_001199860.2(KCNAB2):c.20C>T (p.Thr7Met)	KCNAB2 (T7M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3025478	NM_003636.4(KCNAB2):c.21G>A (p.Thr7=)	KCNAB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3113071	NM_001199860.2(KCNAB2):c.41C>T (p.Ser14Leu)	KCNAB2 (S14L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 749912	NM_003636.4(KCNAB2):c.105G>A (p.Gln35=)	KCNAB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3034668	NM_001199862.2(KCNAB2):c.14C>T (p.Thr5Met)	KCNAB2 (T5M)	Single nucleotide variant (missense variant +1 more)	KCNAB2-related condition	GLikely benign
Select item 2207960	NM_001199862.2(KCNAB2):c.21C>G (p.Ser7Arg)	KCNAB2 (S7R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317355	NM_001199862.2(KCNAB2):c.22G>A (p.Glu8Lys)	KCNAB2 (E8K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397394	NM_001199862.2(KCNAB2):c.31C>T (p.Arg11Trp)	KCNAB2 (R11W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3113069	NM_001199862.2(KCNAB2):c.32G>A (p.Arg11Gln)	KCNAB2 (R11Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3113070	NM_001199862.2(KCNAB2):c.37G>A (p.Val13Met)	KCNAB2 (V13M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303696	NM_001199862.2(KCNAB2):c.59A>G (p.Glu20Gly)	KCNAB2 (E20G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3113072	NM_001199862.2(KCNAB2):c.79C>T (p.Arg27Cys)	KCNAB2 (R27C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3055395	NM_001199862.2(KCNAB2):c.105G>C (p.Gln35His)	KCNAB2 (Q35H)	Single nucleotide variant (missense variant +1 more)	KCNAB2-related condition	GBenign
Select item 2388688	NM_001199862.2(KCNAB2):c.112C>T (p.Arg38Trp)	KCNAB2 (R38W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 996850	NM_001199862.2(KCNAB2):c.113G>A (p.Arg38Gln)	KCNAB2 (R38Q)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3037964	NM_001199862.2(KCNAB2):c.122G>A (p.Arg41Gln)	KCNAB2 (R41Q)	Single nucleotide variant (missense variant +1 more)	KCNAB2-related condition	GLikely benign
Select item 2488202	NM_001199862.2(KCNAB2):c.124G>A (p.Ala42Thr)	KCNAB2 (A42T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1711204	NM_001199862.2(KCNAB2):c.125C>T (p.Ala42Val)	KCNAB2 (A42V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3113067	NM_001199862.2(KCNAB2):c.152G>C (p.Ser51Thr)	KCNAB2 (S51T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3113068	NM_001199862.2(KCNAB2):c.193G>A (p.Ala65Thr)	KCNAB2 (A65T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464948	NM_001199862.2(KCNAB2):c.199C>T (p.Arg67Cys)	KCNAB2 (R67C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3039036	NM_001199862.2(KCNAB2):c.218+10G>A	KCNAB2	Single nucleotide variant (intron variant)	KCNAB2-related condition	GLikely benign
Select item 736636	NM_001199862.2(KCNAB2):c.263-7C>T	KCNAB2, LOC126805596	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 760234	NM_001199862.2(KCNAB2):c.263-6T>C	KCNAB2, LOC126805596	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 716038	NM_001199862.2(KCNAB2):c.279C>T (p.Phe93=)	KCNAB2, LOC126805596	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 753925	NM_001199862.2(KCNAB2):c.301-7G>A	KCNAB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3033243	NM_001199862.2(KCNAB2):c.309G>A (p.Glu103=)	KCNAB2	Single nucleotide variant (synonymous variant)	KCNAB2-related condition	GLikely benign
Select item 3055720	NM_001199862.2(KCNAB2):c.354T>C (p.Asp118=)	KCNAB2	Single nucleotide variant (synonymous variant)	KCNAB2-related condition	GBenign
Select item 3037137	NM_001199862.2(KCNAB2):c.375C>T (p.Ala125=)	KCNAB2	Single nucleotide variant (synonymous variant)	KCNAB2-related condition	GBenign
Select item 767645	NM_001199862.2(KCNAB2):c.380+10_380+14del	KCNAB2	Deletion (intron variant)	KCNAB2-related condition +1 more	GBenign
Select item 767646	NM_001199862.2(KCNAB2):c.390G>A (p.Val130=)	KCNAB2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 735349	NM_001199862.2(KCNAB2):c.402C>T (p.Asn134=)	KCNAB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638113	NM_001199862.2(KCNAB2):c.425+6G>A	KCNAB2	Single nucleotide variant (intron variant)	KCNAB2-related condition +1 more	GLikely benign
Select item 2638114	NM_001199862.2(KCNAB2):c.425+1065G>A	KCNAB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3058590	NM_001199862.2(KCNAB2):c.438C>T (p.Leu146=)	KCNAB2	Single nucleotide variant (synonymous variant)	KCNAB2-related condition	GLikely benign
Select item 783919	NM_001199862.2(KCNAB2):c.498G>A (p.Arg166=)	KCNAB2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 916198	NM_001199862.2(KCNAB2):c.514+8C>T	KCNAB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 522038	NM_001199862.2(KCNAB2):c.535C>T (p.Arg179Ter)	KCNAB2 (R146* +3 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GUncertain significance
Select item 742028	NM_001199862.2(KCNAB2):c.552C>T (p.Tyr184=)	KCNAB2	Single nucleotide variant (synonymous variant)	KCNAB2-related condition +1 more	GLikely benign
Select item 2483301	NM_001199862.2(KCNAB2):c.574C>T (p.Arg192Cys)	KCNAB2 (R145C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 745141	NM_001199862.2(KCNAB2):c.601+5G>A	KCNAB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2385431	NM_001199862.2(KCNAB2):c.661A>G (p.Met221Val)	KCNAB2 (M173V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 735392	NM_001199862.2(KCNAB2):c.705G>A (p.Thr235=)	KCNAB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2265218	NM_001199862.2(KCNAB2):c.710G>A (p.Arg237His)	KCNAB2 (R175H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716039	NM_001199862.2(KCNAB2):c.732+5G>A	KCNAB2	Single nucleotide variant (intron variant)	KCNAB2-related condition +1 more	GBenign
Select item 2638115	NM_001199862.2(KCNAB2):c.732+44C>T	KCNAB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 797729	NM_001199862.2(KCNAB2):c.768C>G (p.Thr256=)	KCNAB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 735769	NM_001199862.2(KCNAB2):c.771G>A (p.Pro257=)	KCNAB2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2205908	NM_001199862.2(KCNAB2):c.787G>A (p.Ala263Thr)	KCNAB2 (A215T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719603	NM_001199862.2(KCNAB2):c.834G>A (p.Pro278=)	KCNAB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 731786	NM_001199862.2(KCNAB2):c.927C>A (p.Pro309=)	KCNAB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 788282	NM_001199862.2(KCNAB2):c.949-9C>T	KCNAB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2540057	NM_001199862.2(KCNAB2):c.987G>C (p.Glu329Asp)	KCNAB2 (E281D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540058	NM_001199862.2(KCNAB2):c.988G>T (p.Gly330Cys)	KCNAB2 (G268C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241540	NM_001199862.2(KCNAB2):c.994C>T (p.Arg332Cys)	KCNAB2 (R217C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383683	NM_001199862.2(KCNAB2):c.1009C>A (p.Leu337Met)	KCNAB2 (L289M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058817	NM_001199862.2(KCNAB2):c.1020G>A (p.Leu340=)	KCNAB2	Single nucleotide variant (synonymous variant)	KCNAB2-related condition	GLikely benign
Select item 747787	NM_001199862.2(KCNAB2):c.1032C>T (p.Ala344=)	KCNAB2	Single nucleotide variant (synonymous variant)	KCNAB2-related condition +1 more	GBenign/Likely benign
Select item 797857	NM_001199862.2(KCNAB2):c.1101C>T (p.Ser367=)	KCNAB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2278281	NM_001199862.2(KCNAB2):c.1121A>G (p.Asn374Ser)	KCNAB2 (N374S +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 720978	NM_001199862.2(KCNAB2):c.1159-5C>T	KCNAB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 742298	NM_001199862.2(KCNAB2):c.1161C>T (p.Val387=)	KCNAB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 775493	NM_001199862.2(KCNAB2):c.1170A>G (p.Lys390=)	KCNAB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1285654	NM_001199862.2(KCNAB2):c.1176A>G (p.Ser392=)	KCNAB2	Single nucleotide variant (synonymous variant)	KCNAB2-related condition +1 more	GBenign
Select item 218544	NM_001199862.2(KCNAB2):c.1183A>G (p.Ile395Val)	KCNAB2 (I347V +3 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2491876	NM_001199862.2(KCNAB2):c.1187T>G (p.Ile396Ser)	KCNAB2 (I348S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058628	NM_001199862.2(KCNAB2):c.*9del	KCNAB2	Deletion (3 prime UTR variant)	KCNAB2-related condition	GLikely benign
Select item 3063343	GRCh37/hg19 1p36.32-36.23(chr1:4536962-7934520)x1	ACOT7, AJAP1 +23 more	Copy number loss	not specified	GPathogenic
Select item 3063233	GRCh37/hg19 1p36.33-36.23(chr1:849466-8966102)x1	RNF207, RNF223 +108 more	Copy number loss	not specified	GPathogenic
Select item 2685299	GRCh37/hg19 1p36.31(chr1:5990505-6059229)x1	KCNAB2, NPHP4	Copy number loss	not provided	GUncertain significance
Select item 2685244	GRCh37/hg19 1p36.33-36.22(chr1:849467-9627901)x1	ACAP3, ACOT7 +116 more	Copy number loss	not provided	GPathogenic
Select item 2574677	GRCh37/hg19 1p36.33-36.31(chr1:1957148-6553454)	AJAP1, ACOT7 +40 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1808634	GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1	ACAP3, ACOT7 +159 more	Copy number loss	not provided	GPathogenic
Select item 1808536	GRCh37/hg19 1p36.31(chr1:5505039-7027995)x1	ACOT7, CAMTA1 +19 more	Copy number loss	not provided	GPathogenic
Select item 1703629	GRCh37/hg19 1p36.33-36.22(chr1:849466-10258804)	GPR157, H6PD +124 more	Copy number loss	Chromosome 1p36 deletion syndrome, proximal	GPathogenic

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