KCNA4[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154432	GRCh38/hg38 11p15.1-13(chr11:20079474-34463996)x1	ABTB2, ANO3 +283 more	Copy number loss	See cases	GPathogenic
Select item 58858	GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1	PAX6_HS3, PAX6_HS8 +334 more	Copy number loss	See cases	GPathogenic
Select item 145522	GRCh38/hg38 11p14.3-13(chr11:24595399-31096539)x3	ANO3, ANO3-AS1 +71 more	Copy number gain	See cases	GPathogenic
Select item 145969	GRCh38/hg38 11p14.2-13(chr11:26368962-35252976)x1	LOC129390275, LOC129390276 +255 more	Copy number loss	See cases	GPathogenic
Select item 2288635	NM_002233.4(KCNA4):c.1951A>G (p.Thr651Ala)	KCNA4 (T651A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477981	NM_002233.4(KCNA4):c.1921A>C (p.Asn641His)	KCNA4 (N641H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399487	NM_002233.4(KCNA4):c.1919A>G (p.Lys640Arg)	KCNA4 (K640R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1028009	NM_002233.4(KCNA4):c.1824G>C (p.Lys608Asn)	KCNA4 (K608N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2641696	NM_002233.4(KCNA4):c.1743G>A (p.Gln581=)	KCNA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2262523	NM_002233.4(KCNA4):c.1603G>T (p.Val535Leu)	KCNA4 (V535L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498510	NM_002233.4(KCNA4):c.1563C>T (p.Thr521=)	KCNA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1675455	NM_002233.4(KCNA4):c.1503G>A (p.Ala501=)	KCNA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1694635	NM_002233.4(KCNA4):c.1311C>T (p.Ala437=)	KCNA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3113033	NM_002233.4(KCNA4):c.1112T>G (p.Phe371Cys)	KCNA4 (F371C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605146	NM_002233.4(KCNA4):c.1094C>G (p.Thr365Arg)	KCNA4 (T365R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345155	NM_002233.4(KCNA4):c.1087G>A (p.Gly363Arg)	KCNA4 (G363R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113032	NM_002233.4(KCNA4):c.1053G>C (p.Leu351Phe)	KCNA4 (L351F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1174211	NM_002233.4(KCNA4):c.1035C>T (p.Gly345=)	KCNA4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2475115	NM_002233.4(KCNA4):c.1020G>A (p.Met340Ile)	KCNA4 (M340I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254352	NM_002233.4(KCNA4):c.949A>G (p.Ile317Val)	KCNA4 (I317V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327915	NM_002233.4(KCNA4):c.940G>A (p.Val314Ile)	KCNA4 (V314I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262210	NM_002233.4(KCNA4):c.830G>A (p.Arg277Lys)	KCNA4 (R277K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540478	NM_002233.4(KCNA4):c.794C>T (p.Ala265Val)	KCNA4 (A265V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113034	NM_002233.4(KCNA4):c.751A>G (p.Ile251Val)	KCNA4 (I251V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287492	NM_002233.4(KCNA4):c.719G>A (p.Arg240His)	KCNA4 (R240H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310299	NM_002233.4(KCNA4):c.442G>C (p.Gly148Arg)	KCNA4 (G148R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268534	NM_002233.4(KCNA4):c.407A>C (p.Glu136Ala)	KCNA4 (E136A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340949	NM_002233.4(KCNA4):c.394G>A (p.Glu132Lys)	KCNA4 (E132K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306906	NM_002233.4(KCNA4):c.381T>G (p.Asp127Glu)	KCNA4 (D127E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 599408	NM_002233.4(KCNA4):c.266G>A (p.Arg89Gln)	KCNA4 (R89Q)	Single nucleotide variant (missense variant)	Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum	GUncertain significance
Select item 2601382	NM_002233.4(KCNA4):c.260G>A (p.Arg87Gln)	KCNA4 (R87Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217612	NM_002233.4(KCNA4):c.221A>G (p.His74Arg)	KCNA4 (H74R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641697	NM_002233.4(KCNA4):c.177G>T (p.Gly59=)	KCNA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1698419	NM_002233.4(KCNA4):c.146C>T (p.Ala49Val)	KCNA4 (A49V)	Single nucleotide variant (missense variant)	Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum	GUncertain significance
Select item 2270078	NM_002233.4(KCNA4):c.95G>A (p.Arg32Lys)	KCNA4 (R32K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3287493	NM_002233.4(KCNA4):c.83G>A (p.Arg28Gln)	KCNA4 (R28Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355647	NM_002233.4(KCNA4):c.76C>T (p.Arg26Trp)	KCNA4 (R26W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242497	NM_002233.4(KCNA4):c.55T>C (p.Tyr19His)	KCNA4 (Y19H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1695895	GRCh37/hg19 11p14.1-13(chr11:27547893-31656604)x1	BDNF, BDNF-AS +11 more	Copy number loss	not provided	Gnot provided
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	DKK3, DNAJC24 +116 more	Copy number gain	not provided	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 688898	GRCh37/hg19 11p14.3-13(chr11:22079154-35597645)x1	ABTB2, ANO3 +55 more	Copy number loss	not provided	GPathogenic
Select item 563875	GRCh37/hg19 11p14.1-13(chr11:29883001-33865721)x1	ARL14EP, C11orf91 +23 more	Copy number loss	not provided	GPathogenic
Select item 563852	GRCh37/hg19 11p14.1(chr11:29572907-30171839)x3	KCNA4	Copy number gain	not provided	GUncertain significance
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441893	GRCh37/hg19 11p14.3-13(chr11:25771208-35614978)x1	ABTB2, ANO3 +48 more	Copy number loss	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic
Select item 441612	GRCh37/hg19 11p14.1-12(chr11:27588560-41770792)x1	ABTB2, APIP +50 more	Copy number loss	See cases	GPathogenic
Select item 376759	GRCh37/hg19 11p15.1-13(chr11:21586131-33168232)x1	KCNA4, KIF18A +39 more	Copy number loss	Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome	GPathogenic
Select item 376757	GRCh37/hg19 11p15.1-13(chr11:18536224-31923308)x1	DCDC1, DNAJC24 +44 more	Copy number loss	Aniridia 1	GPathogenic
Select item 376753	GRCh37/hg19 11p14.1-13(chr11:29750813-32752091)x1	MPPED2, KCNA4 +12 more	Copy number loss	11p partial monosomy syndrome	GPathogenic

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Items: 54