ClinVar for Gene (Select 115701) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3290958	NM_052947.4(ALPK2):c.5189A>C (p.Lys1730Thr)	ALPK2, LOC130062577 (K1730T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290955	NM_052947.4(ALPK2):c.4900G>T (p.Val1634Leu)	ALPK2 (V1634L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290945	NM_052947.4(ALPK2):c.130A>T (p.Thr44Ser)	ALPK2 (T44S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290937	NM_052947.4(ALPK2):c.392C>T (p.Thr131Ile)	ALPK2 (T131I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290922	NM_052947.4(ALPK2):c.5231A>T (p.Glu1744Val)	ALPK2, LOC130062577 (E1744V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290914	NM_052947.4(ALPK2):c.4346C>T (p.Pro1449Leu)	ALPK2, LOC126862764 (P1449L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290890	NM_052947.4(ALPK2):c.4120C>G (p.Gln1374Glu)	ALPK2, LOC126862764 (Q1374E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290878	NM_052947.4(ALPK2):c.1775G>T (p.Gly592Val)	ALPK2 (G592V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290851	NM_052947.4(ALPK2):c.5873A>T (p.Asn1958Ile)	ALPK2 (N1958I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290840	NM_052947.4(ALPK2):c.3958A>C (p.Thr1320Pro)	ALPK2, LOC126862764 (T1320P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290830	NM_052947.4(ALPK2):c.4668C>A (p.Asp1556Glu)	ALPK2, LOC126862764 (D1556E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290821	NM_052947.4(ALPK2):c.6203T>G (p.Val2068Gly)	ALPK2 (V2068G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290811	NM_052947.4(ALPK2):c.3779A>G (p.Lys1260Arg)	ALPK2, LOC126862764 (K1260R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290805	NM_052947.4(ALPK2):c.2997T>G (p.Phe999Leu)	ALPK2 (F999L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3290796	NM_052947.4(ALPK2):c.3688T>G (p.Trp1230Gly)	ALPK2, LOC126862764 (W1230G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290786	NM_052947.4(ALPK2):c.2865A>G (p.Gln955=)	ALPK2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3290775	NM_052947.4(ALPK2):c.5108C>T (p.Thr1703Ile)	ALPK2, LOC130062577 (T1703I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290766	NM_052947.4(ALPK2):c.2364G>C (p.Leu788=)	ALPK2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3290759	NM_052947.4(ALPK2):c.389G>A (p.Gly130Glu)	ALPK2 (G130E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3290749	NM_052947.4(ALPK2):c.5559G>T (p.Gln1853His)	ALPK2 (Q1853H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290738	NM_052947.4(ALPK2):c.2673C>A (p.Thr891=)	ALPK2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3290728	NM_052947.4(ALPK2):c.2173A>G (p.Arg725Gly)	ALPK2 (R725G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290719	NM_052947.4(ALPK2):c.5998C>A (p.Gln2000Lys)	ALPK2 (Q2000K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290709	NM_052947.4(ALPK2):c.3485C>T (p.Ala1162Val)	ALPK2 (A1162V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290699	NM_052947.4(ALPK2):c.6394T>G (p.Ser2132Ala)	ALPK2 (S2132A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290689	NM_052947.4(ALPK2):c.918T>C (p.Ser306=)	ALPK2, LOC114803473	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3290678	NM_052947.4(ALPK2):c.1480A>G (p.Thr494Ala)	ALPK2 (T494A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290668	NM_052947.4(ALPK2):c.1276C>A (p.Gln426Lys)	ALPK2 (Q426K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290660	NM_052947.4(ALPK2):c.1473A>G (p.Val491=)	ALPK2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3290651	NM_052947.4(ALPK2):c.1498T>C (p.Ser500Pro)	ALPK2 (S500P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290642	NM_052947.4(ALPK2):c.6438G>C (p.Gly2146=)	ALPK2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3290632	NM_052947.4(ALPK2):c.1135A>T (p.Ser379Cys)	ALPK2, LOC114803473 (S379C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290621	NM_052947.4(ALPK2):c.4847G>A (p.Gly1616Glu)	ALPK2, LOC130062578 (G1616E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290614	NM_052947.4(ALPK2):c.6022G>T (p.Val2008Leu)	ALPK2 (V2008L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290605	NM_052947.4(ALPK2):c.2362C>A (p.Leu788Met)	ALPK2 (L788M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290593	NM_052947.4(ALPK2):c.117C>G (p.Pro39=)	ALPK2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3290584	NM_052947.4(ALPK2):c.4148T>C (p.Met1383Thr)	ALPK2, LOC126862764 (M1383T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290574	NM_052947.4(ALPK2):c.5613T>C (p.Phe1871=)	ALPK2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3290563	NM_052947.4(ALPK2):c.2992T>C (p.Cys998Arg)	ALPK2 (C998R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290553	NM_052947.4(ALPK2):c.3306G>A (p.Gln1102=)	ALPK2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3290543	NM_052947.4(ALPK2):c.2195A>G (p.Asn732Ser)	ALPK2 (N732S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290535	NM_052947.4(ALPK2):c.3178A>G (p.Ile1060Val)	ALPK2 (I1060V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290525	NM_052947.4(ALPK2):c.4011A>G (p.Arg1337=)	ALPK2, LOC126862764	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3290515	NM_052947.4(ALPK2):c.2538A>G (p.Gln846=)	ALPK2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3290504	NM_052947.4(ALPK2):c.4442A>T (p.Gln1481Leu)	ALPK2, LOC126862764 (Q1481L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290494	NM_052947.4(ALPK2):c.4000A>G (p.Ser1334Gly)	ALPK2, LOC126862764 (S1334G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290485	NM_052947.4(ALPK2):c.2658G>A (p.Met886Ile)	ALPK2 (M886I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290474	NM_052947.4(ALPK2):c.5707G>A (p.Asp1903Asn)	ALPK2 (D1903N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290465	NM_052947.4(ALPK2):c.1107T>C (p.His369=)	LOC114803473, ALPK2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3290455	NM_052947.4(ALPK2):c.843A>G (p.Ala281=)	ALPK2, LOC114803473	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3290446	NM_052947.4(ALPK2):c.3374A>G (p.Asn1125Ser)	ALPK2 (N1125S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290437	NM_052947.4(ALPK2):c.1110C>G (p.Cys370Trp)	ALPK2, LOC114803473 (C370W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290426	NM_052947.4(ALPK2):c.6187A>G (p.Thr2063Ala)	ALPK2 (T2063A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290418	NM_052947.4(ALPK2):c.6128G>C (p.Arg2043Thr)	ALPK2 (R2043T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290409	NM_052947.4(ALPK2):c.1524G>A (p.Met508Ile)	ALPK2 (M508I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290401	NM_052947.4(ALPK2):c.2399C>A (p.Ala800Glu)	ALPK2 (A800E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290400	NM_052947.4(ALPK2):c.4528A>G (p.Ile1510Val)	ALPK2, LOC126862764 (I1510V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290394	NM_052947.4(ALPK2):c.4813C>A (p.Leu1605Ile)	LOC126862764, ALPK2 (L1605I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290389	NM_052947.4(ALPK2):c.390G>A (p.Gly130=)	ALPK2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3290388	NM_052947.4(ALPK2):c.2876G>C (p.Gly959Ala)	ALPK2 (G959A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290387	NM_052947.4(ALPK2):c.1588G>A (p.Gly530Ser)	ALPK2 (G530S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290385	NM_052947.4(ALPK2):c.3167A>T (p.Gln1056Leu)	ALPK2 (Q1056L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290384	NM_052947.4(ALPK2):c.2094C>T (p.His698=)	ALPK2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3290377	NM_052947.4(ALPK2):c.1229T>C (p.Val410Ala)	ALPK2, LOC114803473 (V410A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290366	NM_052947.4(ALPK2):c.6473A>G (p.Lys2158Arg)	ALPK2 (K2158R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290358	NM_052947.4(ALPK2):c.612T>A (p.Asp204Glu)	ALPK2 (D204E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290353	NM_052947.4(ALPK2):c.3929G>A (p.Ser1310Asn)	ALPK2, LOC126862764 (S1310N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3290349	NM_052947.4(ALPK2):c.6361T>C (p.Cys2121Arg)	ALPK2 (C2121R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290347	NM_052947.4(ALPK2):c.3844G>A (p.Asp1282Asn)	ALPK2, LOC126862764 (D1282N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290341	NM_052947.4(ALPK2):c.3254A>G (p.His1085Arg)	ALPK2 (H1085R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290331	NM_052947.4(ALPK2):c.3683G>A (p.Gly1228Glu)	ALPK2, LOC126862764 (G1228E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290323	NM_052947.4(ALPK2):c.5192T>G (p.Ile1731Ser)	ALPK2, LOC130062577 (I1731S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290317	NM_052947.4(ALPK2):c.1410A>G (p.Arg470=)	ALPK2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3290306	NM_052947.4(ALPK2):c.3906T>A (p.Asp1302Glu)	ALPK2, LOC126862764 (D1302E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290295	NM_052947.4(ALPK2):c.1112T>C (p.Leu371Pro)	ALPK2, LOC114803473 (L371P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290282	NM_052947.4(ALPK2):c.2391C>G (p.Asp797Glu)	ALPK2 (D797E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290271	NM_052947.4(ALPK2):c.6482G>A (p.Gly2161Glu)	ALPK2 (G2161E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290260	NM_052947.4(ALPK2):c.5000A>G (p.Lys1667Arg)	ALPK2, LOC130062577 (K1667R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290249	NM_052947.4(ALPK2):c.3242G>A (p.Gly1081Glu)	ALPK2 (G1081E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290240	NM_052947.4(ALPK2):c.4027G>T (p.Val1343Leu)	ALPK2, LOC126862764 (V1343L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290230	NM_052947.4(ALPK2):c.49A>T (p.Thr17Ser)	ALPK2 (T17S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290222	NM_052947.4(ALPK2):c.5265T>C (p.Leu1755=)	ALPK2, LOC130062577	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3290213	NM_052947.4(ALPK2):c.3563G>T (p.Gly1188Val)	ALPK2 (G1188V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3290202	NM_052947.4(ALPK2):c.2237C>T (p.Ala746Val)	ALPK2 (A746V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290191	NM_052947.4(ALPK2):c.1795G>T (p.Ala599Ser)	ALPK2 (A599S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290180	NM_052947.4(ALPK2):c.3857C>G (p.Pro1286Arg)	ALPK2, LOC126862764 (P1286R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290170	NM_052947.4(ALPK2):c.4588G>C (p.Asp1530His)	ALPK2, LOC126862764 (D1530H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290163	NM_052947.4(ALPK2):c.5801T>C (p.Phe1934Ser)	ALPK2 (F1934S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290154	NM_052947.4(ALPK2):c.745A>G (p.Asn249Asp)	ALPK2, LOC114803473 (N249D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290146	NM_052947.4(ALPK2):c.6330C>A (p.Thr2110=)	ALPK2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3290136	NM_052947.4(ALPK2):c.50C>T (p.Thr17Ile)	ALPK2 (T17I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290126	NM_052947.4(ALPK2):c.5784G>A (p.Gly1928=)	ALPK2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3290116	NM_052947.4(ALPK2):c.836C>G (p.Ala279Gly)	ALPK2, LOC114803473 (A279G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290106	NM_052947.4(ALPK2):c.1056G>A (p.Glu352=)	ALPK2, LOC114803473	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3290096	NM_052947.4(ALPK2):c.4926C>A (p.Pro1642=)	ALPK2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3290086	NM_052947.4(ALPK2):c.3606A>T (p.Glu1202Asp)	ALPK2 (E1202D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290079	NM_052947.4(ALPK2):c.2384C>A (p.Pro795Gln)	ALPK2 (P795Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290071	NM_052947.4(ALPK2):c.106T>A (p.Ser36Thr)	ALPK2 (S36T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290064	NM_052947.4(ALPK2):c.4272A>T (p.Glu1424Asp)	ALPK2, LOC126862764 (E1424D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290060	NM_052947.4(ALPK2):c.5706A>T (p.Glu1902Asp)	ALPK2 (E1902D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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