ALPK1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
Select item 2500791	NC_000004.12:g.110650730_112833790del	ALPK1, ANK2 +55 more	Deletion	Axenfeld-Rieger syndrome type 1	GLikely pathogenic
Select item 267201	NC_000004.10:g.111994000_115504000del3510001	LOC129992968, LOC129992986 +77 more	Deletion	Congenital aniridia	GPathogenic
Select item 145621	GRCh38/hg38 4q25-26(chr4:111069785-116691879)x1	ALPK1, ANK2 +85 more	Copy number loss	See cases	GLikely pathogenic
Select item 2418413	NM_025144.4(ALPK1):c.23C>A (p.Ala8Asp)	ALPK1 (A8D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2070364	NM_025144.4(ALPK1):c.32T>C (p.Leu11Pro)	ALPK1 (L11P)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2820606	NM_025144.4(ALPK1):c.40T>C (p.Cys14Arg)	ALPK1 (C14R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2068709	NM_025144.4(ALPK1):c.54G>A (p.Leu18=)	ALPK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2074835	NM_025144.4(ALPK1):c.55G>A (p.Asp19Asn)	ALPK1 (D19N)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2176416	NM_025144.4(ALPK1):c.68T>G (p.Leu23Trp)	ALPK1 (L23W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2856220	NM_025144.4(ALPK1):c.69G>A (p.Leu23=)	ALPK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1914927	NM_025144.4(ALPK1):c.73G>A (p.Ala25Thr)	ALPK1 (A25T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2997485	NM_025144.4(ALPK1):c.74C>G (p.Ala25Gly)	ALPK1 (A25G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2190319	NM_025144.4(ALPK1):c.74C>T (p.Ala25Val)	ALPK1 (A25V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2045595	NM_025144.4(ALPK1):c.75G>A (p.Ala25=)	ALPK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2188052	NM_025144.4(ALPK1):c.84G>A (p.Val28=)	ALPK1 (C2Y)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2180482	NM_025144.4(ALPK1):c.86C>T (p.Ser29Leu)	ALPK1 (R3W +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2070598	NM_025144.4(ALPK1):c.87G>A (p.Ser29=)	ALPK1 (R3Q)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1926337	NM_025144.4(ALPK1):c.87G>C (p.Ser29=)	ALPK1 (R3P)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1715129	NM_025144.4(ALPK1):c.92A>C (p.Glu31Ala)	ALPK1 (E31A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2827469	NM_025144.4(ALPK1):c.99G>T (p.Lys33Asn)	ALPK1 (R7I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2052856	NM_025144.4(ALPK1):c.102C>T (p.Ser34=)	ALPK1 (A8V)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2075882	NM_025144.4(ALPK1):c.103G>A (p.Glu35Lys)	ALPK1 (E35K)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2186133	NM_025144.4(ALPK1):c.113G>A (p.Arg38His)	ALPK1 (R38H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2805649	NM_025144.4(ALPK1):c.121+16G>A	ALPK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2804272	NM_025144.4(ALPK1):c.121+20C>T	ALPK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995833	NM_025144.4(ALPK1):c.122-17A>G	ALPK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2123586	NM_025144.4(ALPK1):c.122-16A>G	ALPK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022510	NM_025144.4(ALPK1):c.130C>A (p.Pro44Thr)	ALPK1 (P44T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2711642	NM_025144.4(ALPK1):c.130C>T (p.Pro44Ser)	ALPK1 (P44S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2068687	NM_025144.4(ALPK1):c.131C>T (p.Pro44Leu)	ALPK1 (P44L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1957951	NM_025144.4(ALPK1):c.135C>T (p.Ser45=)	ALPK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3020125	NM_025144.4(ALPK1):c.136G>T (p.Glu46Ter)	ALPK1 (E46*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2073002	NM_025144.4(ALPK1):c.136G>A (p.Glu46Lys)	ALPK1 (E46K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2859866	NM_025144.4(ALPK1):c.138G>C (p.Glu46Asp)	ALPK1 (E46D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2715903	NM_025144.4(ALPK1):c.144G>A (p.Arg48=)	ALPK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2754650	NM_025144.4(ALPK1):c.146_149dup (p.Ile51fs)	ALPK1 (I51fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2415280	NM_025144.4(ALPK1):c.157G>A (p.Glu53Lys)	ALPK1 (E53K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1940360	NM_025144.4(ALPK1):c.160G>A (p.Ala54Thr)	ALPK1 (A54T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2089615	NM_025144.4(ALPK1):c.174G>A (p.Lys58=)	ALPK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2898874	NM_025144.4(ALPK1):c.184G>A (p.Val62Met)	ALPK1 (V62M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 771706	NM_025144.4(ALPK1):c.200A>G (p.Gln67Arg)	ALPK1 (Q67R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2999385	NM_025144.4(ALPK1):c.223G>A (p.Glu75Lys)	ALPK1 (E75K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3000431	NM_025144.4(ALPK1):c.233C>A (p.Thr78Lys)	ALPK1 (T78K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3002201	NM_025144.4(ALPK1):c.234A>C (p.Thr78=)	ALPK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1919872	NM_025144.4(ALPK1):c.241A>G (p.Lys81Glu)	ALPK1 (K81E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2769138	NM_025144.4(ALPK1):c.250A>G (p.Ile84Val)	ALPK1 (I84V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2655027	NM_025144.4(ALPK1):c.256G>T (p.Ala86Ser)	ALPK1 (A86S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2416313	NM_025144.4(ALPK1):c.256G>C (p.Ala86Pro)	ALPK1 (A86P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2353062	NM_025144.4(ALPK1):c.256G>A (p.Ala86Thr)	ALPK1 (A86T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1914962	NM_025144.4(ALPK1):c.258C>T (p.Ala86=)	ALPK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2248738	NM_025144.4(ALPK1):c.259G>A (p.Gly87Arg)	ALPK1 (G87R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2011637	NM_025144.4(ALPK1):c.274C>T (p.Leu92=)	ALPK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1920393	NM_025144.4(ALPK1):c.276G>C (p.Leu92=)	ALPK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1971732	NM_025144.4(ALPK1):c.276+2T>C	ALPK1	Single nucleotide variant (splice donor variant +1 more)	not provided	GUncertain significance
Select item 2717749	NM_025144.4(ALPK1):c.276+3A>G	ALPK1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2962795	NM_025144.4(ALPK1):c.276+15A>G	ALPK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956354	NM_025144.4(ALPK1):c.277-15A>G	ALPK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961163	NM_025144.4(ALPK1):c.277-14C>T	ALPK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993488	NM_025144.4(ALPK1):c.277-13G>C	ALPK1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3113407	NM_025144.4(ALPK1):c.278C>T (p.Ala93Val)	ALPK1 (A15V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2820566	NM_025144.4(ALPK1):c.280T>C (p.Ser94Pro)	ALPK1 (S16P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004952	NM_025144.4(ALPK1):c.304C>T (p.Arg102Trp)	ALPK1 (R24W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2889340	NM_025144.4(ALPK1):c.304C>G (p.Arg102Gly)	ALPK1 (R24G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974460	NM_025144.4(ALPK1):c.305G>A (p.Arg102Gln)	ALPK1 (R102Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001323	NM_025144.4(ALPK1):c.307G>T (p.Asp103Tyr)	ALPK1 (D103Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2903760	NM_025144.4(ALPK1):c.315G>A (p.Ala105=)	ALPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3113437	NM_025144.4(ALPK1):c.328A>C (p.Ile110Leu)	ALPK1 (I110L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3009235	NM_025144.4(ALPK1):c.333G>T (p.Val111=)	ALPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1984193	NM_025144.4(ALPK1):c.336_338del (p.Phe112del)	ALPK1 (F112del +1 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1954100	NM_025144.4(ALPK1):c.340G>C (p.Val114Leu)	ALPK1 (V114L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1914758	NM_025144.4(ALPK1):c.343G>A (p.Asp115Asn)	ALPK1 (D115N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2000811	NM_025144.4(ALPK1):c.348del (p.Phe117fs)	ALPK1 (F39fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2405001	NM_025144.4(ALPK1):c.355T>C (p.Tyr119His)	ALPK1 (Y119H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2787602	NM_025144.4(ALPK1):c.363C>G (p.Leu121=)	ALPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964130	NM_025144.4(ALPK1):c.364G>C (p.Asp122His)	ALPK1 (D122H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2414839	NM_025144.4(ALPK1):c.374G>T (p.Gly125Val)	ALPK1 (G125V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985191	NM_025144.4(ALPK1):c.381_382delinsAA (p.Leu128Met)	ALPK1 (L50M +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 2663230	NM_025144.4(ALPK1):c.382C>G (p.Leu128Val)	ALPK1 (L128V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990391	NM_025144.4(ALPK1):c.383del (p.Leu128fs)	ALPK1 (L128fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2113060	NM_025144.4(ALPK1):c.392C>G (p.Ala131Gly)	ALPK1 (A131G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2889720	NM_025144.4(ALPK1):c.398G>A (p.Gly133Asp)	ALPK1 (G55D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1923873	NM_025144.4(ALPK1):c.410T>C (p.Leu137Ser)	ALPK1 (L59S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2804490	NM_025144.4(ALPK1):c.411G>T (p.Leu137Phe)	ALPK1 (L59F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2755201	NM_025144.4(ALPK1):c.411G>A (p.Leu137=)	ALPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1959683	NM_025144.4(ALPK1):c.418G>A (p.Ala140Thr)	ALPK1 (A140T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2792973	NM_025144.4(ALPK1):c.431C>A (p.Ala144Asp)	ALPK1 (A66D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2120672	NM_025144.4(ALPK1):c.431C>T (p.Ala144Val)	ALPK1 (A66V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976961	NM_025144.4(ALPK1):c.435G>A (p.Pro145=)	ALPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2480758	NM_025144.4(ALPK1):c.449G>C (p.Arg150Pro)	ALPK1 (R150P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2989581	NM_025144.4(ALPK1):c.459_466dup (p.Val156fs)	ALPK1 (V156fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2107005	NM_025144.4(ALPK1):c.457C>G (p.Arg153Gly)	ALPK1 (R75G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2224442	NM_025144.4(ALPK1):c.461T>C (p.Ile154Thr)	ALPK1 (I154T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2792808	NM_025144.4(ALPK1):c.463T>C (p.Ser155Pro)	ALPK1 (S77P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2182389	NM_025144.4(ALPK1):c.465del (p.Ser155_Val156insTer)	ALPK1	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2000020	NM_025144.4(ALPK1):c.465C>T (p.Ser155=)	ALPK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2137369	NM_025144.4(ALPK1):c.475+1_475+5dup	ALPK1	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 2028193	NM_025144.4(ALPK1):c.475+4T>A	ALPK1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2785466	NM_025144.4(ALPK1):c.475+5G>A	ALPK1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2789676	NM_025144.4(ALPK1):c.475+10dup	ALPK1	Duplication (intron variant)	not provided	GLikely benign

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