ClinVar for Gene (Select 8514) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341514	NM_001199862.2(KCNAB2):c.1158+58T>C	KCNAB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3250730	NM_001199862.2(KCNAB2):c.1158+51C>T	KCNAB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3247965	NC_000001.10:g.(?_5923325)_(12071622_?)del	DNAJC11, DRAXIN +76 more	Deletion	not provided	GUncertain significance
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
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 3113071	NM_001199860.2(KCNAB2):c.41C>T (p.Ser14Leu)	KCNAB2 (S14L)	Single nucleotide variant (missense variant)	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 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 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 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 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 3058817	NM_001199862.2(KCNAB2):c.1020G>A (p.Leu340=)	KCNAB2	Single nucleotide variant (synonymous variant)	KCNAB2-related disorder	GLikely benign
Select item 3058628	NM_001199862.2(KCNAB2):c.*9del	KCNAB2	Deletion (3 prime UTR variant)	KCNAB2-related disorder	GLikely benign
Select item 3058590	NM_001199862.2(KCNAB2):c.438C>T (p.Leu146=)	KCNAB2	Single nucleotide variant (synonymous variant)	KCNAB2-related disorder	GLikely benign
Select item 3055720	NM_001199862.2(KCNAB2):c.354T>C (p.Asp118=)	KCNAB2	Single nucleotide variant (synonymous variant)	KCNAB2-related disorder	GBenign
Select item 3055395	NM_001199862.2(KCNAB2):c.105G>C (p.Gln35His)	KCNAB2 (Q35H)	Single nucleotide variant (missense variant +1 more)	KCNAB2-related disorder	GBenign
Select item 3039036	NM_001199862.2(KCNAB2):c.218+10G>A	KCNAB2	Single nucleotide variant (intron variant)	KCNAB2-related disorder	GLikely benign
Select item 3037964	NM_001199862.2(KCNAB2):c.122G>A (p.Arg41Gln)	KCNAB2 (R41Q)	Single nucleotide variant (missense variant +1 more)	KCNAB2-related disorder	GLikely benign
Select item 3037137	NM_001199862.2(KCNAB2):c.375C>T (p.Ala125=)	KCNAB2	Single nucleotide variant (synonymous variant)	KCNAB2-related disorder	GBenign
Select item 3034668	NM_001199862.2(KCNAB2):c.14C>T (p.Thr5Met)	KCNAB2 (T5M)	Single nucleotide variant (missense variant +1 more)	KCNAB2-related disorder	GLikely benign
Select item 3033243	NM_001199862.2(KCNAB2):c.309G>A (p.Glu103=)	KCNAB2	Single nucleotide variant (synonymous variant)	KCNAB2-related disorder	GLikely benign
Select item 3025478	NM_003636.4(KCNAB2):c.21G>A (p.Thr7=)	KCNAB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2638115	NM_001199862.2(KCNAB2):c.732+44C>T	KCNAB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2638114	NM_001199862.2(KCNAB2):c.425+1065G>A	KCNAB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2638113	NM_001199862.2(KCNAB2):c.425+6G>A	KCNAB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2574677	GRCh37/hg19 1p36.33-36.31(chr1:1957148-6553454)	ACOT7, ACTRT2 +40 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
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 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 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 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 2487890	NM_001199860.2(KCNAB2):c.20C>T (p.Thr7Met)	KCNAB2 (T7M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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 1703629	GRCh37/hg19 1p36.33-36.22(chr1:849466-10258804)	GPR157, H6PD +124 more	Copy number loss	Chromosome 1p36 deletion syndrome, proximal	GPathogenic
Select item 1513447	NC_000001.10:g.(?_6046195)_(6101952_?)dup	KCNAB2, NPHP4	Duplication	Nephronophthisis	GUncertain significance
Select item 1341993	GRCh37/hg19 1p36.33-36.23(chr1:834101-7930605)x1	DNAJC11, DVL1 +101 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1340028	GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	AJAP1, KAZN +228 more	Copy number loss	not provided	GPathogenic
Select item 1285654	NM_001199862.2(KCNAB2):c.1176A>G (p.Ser392=)	KCNAB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1177499	GRCh37/hg19 1p36.32-36.23(chr1:2420003-8155935)x1	SMIM1, ZBTB48 +47 more	Copy number loss	Chromosome 1p36 deletion syndrome	Gnot provided
Select item 996850	NM_001199862.2(KCNAB2):c.113G>A (p.Arg38Gln)	KCNAB2 (R38Q)	Single nucleotide variant (missense variant +1 more)	Seizure +1 more	GUncertain significance
Select item 976729	GRCh37/hg19 1p36.33-36.23(chr1:762080-7309686)	PUSL1, RER1 +98 more	Copy number loss	Harel-Yoon syndrome	GLikely pathogenic
Select item 916198	NM_001199862.2(KCNAB2):c.514+8C>T	KCNAB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 814045	GRCh37/hg19 1p36.33-36.23(chr1:849466-7786545)x1	ACAP3, ACOT7 +98 more	Copy number loss	not provided	GPathogenic
Select item 797857	NM_001199862.2(KCNAB2):c.1101C>T (p.Ser367=)	KCNAB2	Single nucleotide variant (synonymous 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 788282	NM_001199862.2(KCNAB2):c.949-9C>T	KCNAB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 783919	NM_001199862.2(KCNAB2):c.498G>A (p.Arg166=)	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 767646	NM_001199862.2(KCNAB2):c.390G>A (p.Val130=)	KCNAB2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 767645	NM_001199862.2(KCNAB2):c.380+10_380+14del	KCNAB2	Deletion (intron variant)	not provided	GBenign
Select item 760234	NM_001199862.2(KCNAB2):c.263-6T>C	KCNAB2, LOC126805596	Single nucleotide variant (intron variant)	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 749912	NM_003636.4(KCNAB2):c.105G>A (p.Gln35=)	KCNAB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 747787	NM_001199862.2(KCNAB2):c.1032C>T (p.Ala344=)	KCNAB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 745141	NM_001199862.2(KCNAB2):c.601+5G>A	KCNAB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 742298	NM_001199862.2(KCNAB2):c.1161C>T (p.Val387=)	KCNAB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 742028	NM_001199862.2(KCNAB2):c.552C>T (p.Tyr184=)	KCNAB2	Single nucleotide variant (synonymous variant)	not provided	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 735769	NM_001199862.2(KCNAB2):c.771G>A (p.Pro257=)	KCNAB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 735392	NM_001199862.2(KCNAB2):c.705G>A (p.Thr235=)	KCNAB2	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 731786	NM_001199862.2(KCNAB2):c.927C>A (p.Pro309=)	KCNAB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 720978	NM_001199862.2(KCNAB2):c.1159-5C>T	KCNAB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 719603	NM_001199862.2(KCNAB2):c.834G>A (p.Pro278=)	KCNAB2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 716039	NM_001199862.2(KCNAB2):c.732+5G>A	KCNAB2	Single nucleotide variant (intron variant)	not provided	GBenign
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 689301	GRCh37/hg19 1p36.31(chr1:5884375-6102915)x4	KCNAB2, NPHP4	Copy number gain	not provided	GUncertain significance
Select item 684899	GRCh37/hg19 1p36.31(chr1:6103234-6230157)x3	CHD5, KCNAB2	Copy number gain	not provided	GUncertain significance
Select item 638124	GRCh37/hg19 1p36.33-36.22(chr1:82154-11784118)x1	ACAP3, ACOT7 +148 more	Copy number loss	See cases	GPathogenic
Select item 638116	GRCh37/hg19 1p36.33-36.23(chr1:82154-7637060)x1	ACAP3, ACOT7 +100 more	Copy number loss	See cases	GPathogenic
Select item 635907	Single allele	ACAP3, ACOT7 +119 more	Deletion	Neurodevelopmental disorder	GPathogenic
Select item 625766	GRCh37/hg19 1p36.33-36.31(chr1:823964-6828363)	ANKRD65, ARHGEF16 +97 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 565059	GRCh37/hg19 1p36.33-36.23(chr1:849466-7305595)x1	ACAP3, ACOT7 +98 more	Copy number loss	not provided	GPathogenic
Select item 523269	GRCh37/hg19 1p36.33-36.31(chr1:834101-6076140)	CCDC27, MIR200B +79 more	Copy number loss	Primary dilated cardiomyopathy +2 more	GPathogenic
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 443883	GRCh37/hg19 1p36.33-36.23(chr1:849466-8901938)x1	ACAP3, ACOT7 +106 more	Copy number loss	See cases	GPathogenic
Select item 443478	GRCh37/hg19 1p36.33-36.23(chr1:849466-7637060)x1	ACAP3, ACOT7 +98 more	Copy number loss	See cases	GPathogenic
Select item 442986	GRCh37/hg19 1p36.31(chr1:5962543-6062001)x4	KCNAB2, NPHP4	Copy number gain	See cases	GUncertain significance
Select item 442919	GRCh37/hg19 1p36.33-36.31(chr1:849466-6505278)x1	ACAP3, ACOT7 +88 more	Copy number loss	See cases	GPathogenic
Select item 442741	GRCh37/hg19 1p36.32-36.23(chr1:2793822-7510850)x1	ACOT7, ACTRT2 +34 more	Copy number loss	See cases	GPathogenic

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