"Ambry Genetics"[submitter] AND "LOC130062577"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1747015	NM_052947.4(ALPK2):c.5352A>T (p.Arg1784Ser)	ALPK2, LOC130062577 (R1784S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1746962	NM_052947.4(ALPK2):c.5348G>A (p.Gly1783Glu)	ALPK2, LOC130062577 (G1783E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1746943	NM_052947.4(ALPK2):c.5342G>C (p.Arg1781Thr)	ALPK2, LOC130062577 (R1781T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1746940	NM_052947.4(ALPK2):c.5341A>C (p.Arg1781=)	ALPK2, LOC130062577	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1746908	NM_052947.4(ALPK2):c.5338A>G (p.Lys1780Glu)	ALPK2, LOC130062577 (K1780E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1746907	NM_052947.4(ALPK2):c.5338A>C (p.Lys1780Gln)	ALPK2, LOC130062577 (K1780Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1746857	NM_052947.4(ALPK2):c.5329C>A (p.Pro1777Thr)	ALPK2, LOC130062577 (P1777T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1746852	NM_052947.4(ALPK2):c.5328G>C (p.Lys1776Asn)	ALPK2, LOC130062577 (K1776N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1746851	NM_052947.4(ALPK2):c.5328G>A (p.Lys1776=)	ALPK2, LOC130062577	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1746837	NM_052947.4(ALPK2):c.5323A>G (p.Lys1775Glu)	ALPK2, LOC130062577 (K1775E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1746796	NM_052947.4(ALPK2):c.5319C>T (p.Asp1773=)	ALPK2, LOC130062577	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1746792	NM_052947.4(ALPK2):c.5317G>A (p.Asp1773Asn)	ALPK2, LOC130062577 (D1773N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3228794	NM_052947.4(ALPK2):c.5308G>A (p.Glu1770Lys)	ALPK2, LOC130062577 (E1770K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561813	NM_052947.4(ALPK2):c.5305G>C (p.Glu1769Gln)	ALPK2, LOC130062577 (E1769Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1746718	NM_052947.4(ALPK2):c.5304A>T (p.Thr1768=)	ALPK2, LOC130062577	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3228793	NM_052947.4(ALPK2):c.5301C>T (p.His1767=)	ALPK2, LOC130062577	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1746648	NM_052947.4(ALPK2):c.5293T>C (p.Leu1765=)	ALPK2, LOC130062577	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1746641	NM_052947.4(ALPK2):c.5292A>T (p.Ser1764=)	ALPK2, LOC130062577	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1746638	NM_052947.4(ALPK2):c.5290T>C (p.Ser1764Pro)	ALPK2, LOC130062577 (S1764P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1746601	NM_052947.4(ALPK2):c.5289A>G (p.Thr1763=)	ALPK2, LOC130062577	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3228792	NM_052947.4(ALPK2):c.5287A>G (p.Thr1763Ala)	ALPK2, LOC130062577 (T1763A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1746593	NM_052947.4(ALPK2):c.5286A>T (p.Glu1762Asp)	ALPK2, LOC130062577 (E1762D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397823	NM_052947.4(ALPK2):c.5284G>A (p.Glu1762Lys)	ALPK2, LOC130062577 (E1762K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2564078	NM_052947.4(ALPK2):c.5283C>G (p.Leu1761=)	ALPK2, LOC130062577	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1746580	NM_052947.4(ALPK2):c.5283C>T (p.Leu1761=)	ALPK2, LOC130062577	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1746573	NM_052947.4(ALPK2):c.5281C>G (p.Leu1761Val)	ALPK2, LOC130062577 (L1761V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1746567	NM_052947.4(ALPK2):c.5280A>G (p.Lys1760=)	ALPK2, LOC130062577	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1746538	NM_052947.4(ALPK2):c.5278A>G (p.Lys1760Glu)	ALPK2, LOC130062577 (K1760E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1746535	NM_052947.4(ALPK2):c.5277C>T (p.Pro1759=)	ALPK2, LOC130062577	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1746531	NM_052947.4(ALPK2):c.5276C>G (p.Pro1759Arg)	ALPK2, LOC130062577 (P1759R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545072	NM_052947.4(ALPK2):c.5275C>A (p.Pro1759Thr)	ALPK2, LOC130062577 (P1759T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2449295	NM_052947.4(ALPK2):c.5274G>A (p.Met1758Ile)	ALPK2, LOC130062577 (M1758I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1746522	NM_052947.4(ALPK2):c.5272A>G (p.Met1758Val)	ALPK2, LOC130062577 (M1758V)	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 3228791	NM_052947.4(ALPK2):c.5259C>A (p.Ala1753=)	ALPK2, LOC130062577	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1746394	NM_052947.4(ALPK2):c.5258C>T (p.Ala1753Val)	ALPK2, LOC130062577 (A1753V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1746378	NM_052947.4(ALPK2):c.5253C>T (p.Asn1751=)	ALPK2, LOC130062577	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1746365	NM_052947.4(ALPK2):c.5250G>A (p.Lys1750=)	ALPK2, LOC130062577	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1746327	NM_052947.4(ALPK2):c.5249A>G (p.Lys1750Arg)	ALPK2, LOC130062577 (K1750R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1746312	NM_052947.4(ALPK2):c.5244C>A (p.Ile1748=)	ALPK2, LOC130062577	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1746310	NM_052947.4(ALPK2):c.5243T>A (p.Ile1748Asn)	ALPK2, LOC130062577 (I1748N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1746305	NM_052947.4(ALPK2):c.5241T>C (p.Asn1747=)	ALPK2, LOC130062577	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1746299	NM_052947.4(ALPK2):c.5240A>C (p.Asn1747Thr)	ALPK2, LOC130062577 (N1747T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1746258	NM_052947.4(ALPK2):c.5236G>A (p.Glu1746Lys)	ALPK2, LOC130062577 (E1746K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2450717	NM_052947.4(ALPK2):c.5235G>T (p.Lys1745Asn)	ALPK2, LOC130062577 (K1745N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1746245	NM_052947.4(ALPK2):c.5234A>G (p.Lys1745Arg)	ALPK2, LOC130062577 (K1745R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561803	NM_052947.4(ALPK2):c.5233A>G (p.Lys1745Glu)	ALPK2, LOC130062577 (K1745E)	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 3289924	NM_052947.4(ALPK2):c.5230G>C (p.Glu1744Gln)	ALPK2, LOC130062577 (E1744Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1746161	NM_052947.4(ALPK2):c.5220G>A (p.Leu1740=)	ALPK2, LOC130062577	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1746123	NM_052947.4(ALPK2):c.5213T>C (p.Leu1738Pro)	ALPK2, LOC130062577 (L1738P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3228789	NM_052947.4(ALPK2):c.5207C>A (p.Ala1736Glu)	ALPK2, LOC130062577 (A1736E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1746074	NM_052947.4(ALPK2):c.5207C>T (p.Ala1736Val)	ALPK2, LOC130062577 (A1736V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1746048	NM_052947.4(ALPK2):c.5203G>A (p.Val1735Met)	ALPK2, LOC130062577 (V1735M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3228788	NM_052947.4(ALPK2):c.5202G>A (p.Arg1734=)	ALPK2, LOC130062577	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2564090	NM_052947.4(ALPK2):c.5200A>C (p.Arg1734=)	ALPK2, LOC130062577	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1745946	NM_052947.4(ALPK2):c.5197T>C (p.Ser1733Pro)	ALPK2, LOC130062577 (S1733P)	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 1745911	NM_052947.4(ALPK2):c.5190A>C (p.Lys1730Asn)	ALPK2, LOC130062577 (K1730N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1745858	NM_052947.4(ALPK2):c.5181A>T (p.Val1727=)	ALPK2, LOC130062577	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1745857	NM_052947.4(ALPK2):c.5181A>G (p.Val1727=)	ALPK2, LOC130062577	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3288851	NM_052947.4(ALPK2):c.5179G>A (p.Val1727Ile)	ALPK2, LOC130062577 (V1727I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2626027	NM_052947.4(ALPK2):c.5177G>C (p.Gly1726Ala)	ALPK2, LOC130062577 (G1726A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1745830	NM_052947.4(ALPK2):c.5177G>A (p.Gly1726Glu)	ALPK2, LOC130062577 (G1726E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1745811	NM_052947.4(ALPK2):c.5172T>C (p.Ala1724=)	ALPK2, LOC130062577	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2560600	NM_052947.4(ALPK2):c.5166T>C (p.His1722=)	ALPK2, LOC130062577	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1745744	NM_052947.4(ALPK2):c.5164C>T (p.His1722Tyr)	ALPK2, LOC130062577 (H1722Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1745702	NM_052947.4(ALPK2):c.5159G>A (p.Ser1720Asn)	ALPK2, LOC130062577 (S1720N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2626490	NM_052947.4(ALPK2):c.5157C>A (p.Gly1719=)	ALPK2, LOC130062577	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2564112	NM_052947.4(ALPK2):c.5157C>G (p.Gly1719=)	ALPK2, LOC130062577	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1745683	NM_052947.4(ALPK2):c.5153C>G (p.Pro1718Arg)	ALPK2, LOC130062577 (P1718R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3289152	NM_052947.4(ALPK2):c.5146G>A (p.Glu1716Lys)	ALPK2, LOC130062577 (E1716K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3228787	NM_052947.4(ALPK2):c.5144C>A (p.Pro1715Gln)	ALPK2, LOC130062577 (P1715Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2560604	NM_052947.4(ALPK2):c.5144C>T (p.Pro1715Leu)	ALPK2, LOC130062577 (P1715L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2564050	NM_052947.4(ALPK2):c.5140A>G (p.Lys1714Glu)	ALPK2, LOC130062577 (K1714E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1745586	NM_052947.4(ALPK2):c.5139G>A (p.Arg1713=)	ALPK2, LOC130062577	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1745578	NM_052947.4(ALPK2):c.5137A>G (p.Arg1713Gly)	ALPK2, LOC130062577 (R1713G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1745568	NM_052947.4(ALPK2):c.5135A>G (p.Lys1712Arg)	ALPK2, LOC130062577 (K1712R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2449196	NM_052947.4(ALPK2):c.5133C>G (p.Val1711=)	ALPK2, LOC130062577	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1745515	NM_052947.4(ALPK2):c.5128G>A (p.Glu1710Lys)	ALPK2, LOC130062577 (E1710K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1745504	NM_052947.4(ALPK2):c.5125G>A (p.Glu1709Lys)	ALPK2, LOC130062577 (E1709K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1745499	NM_052947.4(ALPK2):c.5124A>C (p.Ser1708=)	ALPK2, LOC130062577	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3228786	NM_052947.4(ALPK2):c.5121G>A (p.Gly1707=)	ALPK2, LOC130062577	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2449186	NM_052947.4(ALPK2):c.5120G>A (p.Gly1707Glu)	ALPK2, LOC130062577 (G1707E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1745447	NM_052947.4(ALPK2):c.5118G>A (p.Thr1706=)	ALPK2, LOC130062577	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1745438	NM_052947.4(ALPK2):c.5117C>T (p.Thr1706Met)	ALPK2, LOC130062577 (T1706M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1745426	NM_052947.4(ALPK2):c.5113G>C (p.Val1705Leu)	ALPK2, LOC130062577 (V1705L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1745424	NM_052947.4(ALPK2):c.5113G>A (p.Val1705Met)	ALPK2, LOC130062577 (V1705M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1745418	NM_052947.4(ALPK2):c.5112A>C (p.Ala1704=)	ALPK2, LOC130062577	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 1745373	NM_052947.4(ALPK2):c.5107A>G (p.Thr1703Ala)	ALPK2, LOC130062577 (T1703A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3228785	NM_052947.4(ALPK2):c.5103C>T (p.Thr1701=)	ALPK2, LOC130062577	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1745365	NM_052947.4(ALPK2):c.5103C>A (p.Thr1701=)	ALPK2, LOC130062577	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1745294	NM_052947.4(ALPK2):c.5095C>T (p.Pro1699Ser)	ALPK2, LOC130062577 (P1699S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1745290	NM_052947.4(ALPK2):c.5094G>A (p.Ser1698=)	ALPK2, LOC130062577	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1745247	NM_052947.4(ALPK2):c.5086G>T (p.Gly1696Cys)	ALPK2, LOC130062577 (G1696C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1745239	NM_052947.4(ALPK2):c.5085A>C (p.Ala1695=)	ALPK2, LOC130062577	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1745237	NM_052947.4(ALPK2):c.5084C>T (p.Ala1695Val)	ALPK2, LOC130062577 (A1695V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1745235	NM_052947.4(ALPK2):c.5084C>G (p.Ala1695Gly)	ALPK2, LOC130062577 (A1695G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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