ClinVar for Gene (Select 3742) - ClinVar

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Links from Gene

Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3113054	NM_002235.5(KCNA6):c.644C>T (p.Ser215Phe)	KCNA6 (S215F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3113052	NM_002235.5(KCNA6):c.365G>T (p.Arg122Leu)	KCNA6 (R122L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3113051	NM_002235.5(KCNA6):c.284C>T (p.Ala95Val)	KCNA6 (A95V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3113050	NM_002235.5(KCNA6):c.152G>A (p.Arg51His)	KCNA6 (R51H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3113049	NM_002235.5(KCNA6):c.1501T>C (p.Phe501Leu)	KCNA6 (F501L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3063259	GRCh37/hg19 12p13.33-13.31(chr12:2246103-5406692)x1	AKAP3, CACNA1C +23 more	Copy number loss	not specified	GLikely pathogenic
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 3063237	GRCh37/hg19 12p13.32(chr12:4922894-5151998)x3	KCNA1, KCNA6	Copy number gain	not specified	GUncertain significance
Select item 2685429	GRCh37/hg19 12p13.33-13.32(chr12:191243-5332596)x1	ADIPOR2, AKAP3 +40 more	Copy number loss	not provided	GPathogenic
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2582073	NM_002235.5(KCNA6):c.1372G>C (p.Val458Leu)	KCNA6 (V458L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2549233	NM_002235.5(KCNA6):c.76G>C (p.Gly26Arg)	KCNA6 (G26R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2547552	NM_002235.5(KCNA6):c.1537C>T (p.Leu513Phe)	KCNA6 (L513F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	AKAP3, ETFRF1 +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 2430245	NM_002235.5(KCNA6):c.1367T>A (p.Val456Asp)	KCNA6 (V456D)	Single nucleotide variant (missense variant +1 more)	Focal-onset seizure +10 more	GLikely pathogenic
Select item 2428979	NM_002235.5(KCNA6):c.781G>C (p.Asp261His)	KCNA6 (D261H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2428866	NM_002235.5(KCNA6):c.1126C>G (p.Leu376Val)	KCNA6 (L376V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2423987	NC_000012.11:g.(?_4368352)_(9027607_?)dup	A2ML1, ACRBP +85 more	Duplication	Lymphoproliferative syndrome 2	GUncertain significance
Select item 2422593	NC_000012.11:g.(?_4368352)_(5155155_?)dup	AKAP3, C12orf4 +11 more	Duplication	Episodic ataxia type 1	GUncertain significance
Select item 2378269	NM_002235.5(KCNA6):c.19C>T (p.Leu7Phe)	KCNA6 (L7F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2364109	NM_002235.5(KCNA6):c.1469G>A (p.Arg490Lys)	KCNA6 (R490K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2329818	NM_002235.5(KCNA6):c.448C>T (p.Pro150Ser)	KCNA6 (P150S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2297988	NM_002235.5(KCNA6):c.1292T>C (p.Met431Thr)	KCNA6 (M431T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2234595	NM_002235.5(KCNA6):c.643T>G (p.Ser215Ala)	KCNA6 (S215A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2223568	NM_002235.5(KCNA6):c.46C>T (p.Arg16Cys)	KCNA6 (R16C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1807708	GRCh37/hg19 12p13.33-13.31(chr12:173787-8320544)x3	ACRBP, ACSM4 +105 more	Copy number gain	not provided	GPathogenic
Select item 1527677	GRCh37/hg19 12p13.33-13.32(chr12:2790077-5325700)	AKAP3, C12orf4 +23 more	Copy number loss	not specified	GPathogenic
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 1527669	GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)	A2ML1, ABCC9 +235 more	Copy number gain	not specified	GPathogenic
Select item 1330180	GRCh37/hg19 12p13.33-13.31(chr12:146240-8330229)x3	ACRBP, ACSM4 +106 more	Copy number gain	Small hand +6 more	GPathogenic
Select item 1180524	GRCh37/hg19 12p13.33-13.31(chr12:189145-7730395)x3	CRACR2A, ERC1 +93 more	Copy number gain	not provided	GPathogenic
Select item 1047901	GRCh37/hg19 12p13.32(chr12:3619010-5221363)	TIGAR, AKAP3 +14 more	Copy number loss	Global developmental delay +1 more	GPathogenic
Select item 998926	NC_000012.11:g.(?_4479509)_(6235003_?)dup	AKAP3, ANO2 +12 more	Duplication	Episodic ataxia type 1	GUncertain significance
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 691364	NM_002235.5(KCNA6):c.233A>G (p.Asp78Gly)	KCNA6 (D78G)	Single nucleotide variant (non-coding transcript variant +1 more)	Esophageal atresia +1 more	GUncertain significance
Select item 687115	GRCh37/hg19 12p13.33-13.31(chr12:173786-6346092)x1	ADIPOR2, AKAP3 +44 more	Copy number loss	not provided	GPathogenic
Select item 686501	GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	CLEC1B, CLEC2A +278 more	Copy number gain	not provided	GPathogenic
Select item 685635	GRCh37/hg19 12p13.33-13.31(chr12:173786-8393815)x3	ACRBP, ACSM4 +107 more	Copy number gain	not provided	GPathogenic
Select item 625811	GRCh37/hg19 12p13.33-13.31(chr12:189216-8185497)	ACRBP, ACSM4 +102 more	Copy number gain	not provided	GPathogenic
Select item 625810	GRCh37/hg19 12p13.33-13.31(chr12:237588-8278292)	ACRBP, ACSM4 +105 more	Copy number gain	not provided	GPathogenic
Select item 625809	GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420)	A2M, A2ML1 +193 more	Copy number gain	not provided	GPathogenic
Select item 619591	NC_000012.12:g.(1_3750000)_(5250000_9000000)del	GAPDH, GAU1 +477 more	Deletion	Tumoral calcinosis, hyperphosphatemic, familial, 1	Gnot provided
Select item 563991	GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563990	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563989	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563988	GRCh37/hg19 12p13.33-13.31(chr12:191242-8122785)x3	ACRBP, ACSM4 +101 more	Copy number gain	not provided	GPathogenic
Select item 563987	GRCh37/hg19 12p13.33-13.31(chr12:173786-6201932)x1	ADIPOR2, AKAP3 +43 more	Copy number loss	not provided	GPathogenic
Select item 563986	GRCh37/hg19 12p13.33-13.31(chr12:173786-6039841)x1	ADIPOR2, AKAP3 +42 more	Copy number loss	not provided	GPathogenic
Select item 563985	GRCh37/hg19 12p13.33-13.31(chr12:173786-5952112)x1	ADIPOR2, AKAP3 +42 more	Copy number loss	not provided	GPathogenic
Select item 563976	GRCh37/hg19 12p13.32-13.31(chr12:4305058-6066141)x1	GALNT8, NTF3 +14 more	Copy number loss	not provided	GLikely pathogenic
Select item 443532	GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3	A2M, A2ML1 +256 more	Copy number gain	See cases	GPathogenic
Select item 442150	GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3	KCNA6, KCNJ8 +273 more	Copy number gain	See cases	GLikely pathogenic
Select item 442073	GRCh37/hg19 12p13.33-13.32(chr12:3256714-4980727)x1	AKAP3, CCND2 +13 more	Copy number loss	See cases	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 441823	GRCh37/hg19 12p13.33-13.2(chr12:173786-11677456)x3	A2M, A2ML1 +166 more	Copy number gain	See cases	GPathogenic
Select item 395673	GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 253862	GRCh37/hg19 12p13.32(chr12:4872405-5347944)x3	GALNT8, KCNA6 +2 more	Copy number gain	See cases	GUncertain significance
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 221486	GRCh38/hg38 12p13.32-13.31(chr12:4772521-5854093)x1	LOC124625890, LOC126861422 +36 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221368	chr12:4920767-5603935 complex variant	KCNA1, KCNA5 +2 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 155290	GRCh38/hg38 12p13.33-13.31(chr12:418421-6235914)x3	ADIPOR2, AKAP3 +223 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007190, LOC130007191 +698 more	Copy number gain	See cases	GPathogenic
Select item 147690	GRCh38/hg38 12p13.33-13.31(chr12:199896-5807366)x1	ADIPOR2, AKAP3 +218 more	Copy number loss	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 146024	GRCh38/hg38 12p13.33-13.31(chr12:45740-6945196)x3	ACRBP, ADIPOR2 +348 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 58983	GRCh38/hg38 12p13.33-13.32(chr12:2492728-4829842)x1	AKAP3, CACNA1C +91 more	Copy number loss	See cases	GPathogenic
Select item 58207	GRCh38/hg38 12p13.32-13.31(chr12:4832052-5947324)x3	ANO2, KCNA1 +33 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 79