"PreventionGenetics, part of Exact Sciences"[submitter] AND "LOC126862 - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3059389	NM_052947.4(ALPK2):c.4736A>G (p.Gln1579Arg)	ALPK2, LOC126862764 (Q1579R)	Single nucleotide variant (missense variant)	ALPK2-related disorder	GBenign
Select item 3060230	NM_052947.4(ALPK2):c.4651G>T (p.Ala1551Ser)	ALPK2, LOC126862764 (A1551S)	Single nucleotide variant (missense variant)	ALPK2-related disorder	GBenign
Select item 3059289	NM_052947.4(ALPK2):c.4437T>A (p.Ala1479=)	ALPK2, LOC126862764	Single nucleotide variant (synonymous variant)	ALPK2-related disorder	GBenign
Select item 1739944	NM_052947.4(ALPK2):c.4352T>C (p.Ile1451Thr)	ALPK2, LOC126862764 (I1451T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3058890	NM_052947.4(ALPK2):c.4345C>T (p.Pro1449Ser)	ALPK2, LOC126862764 (P1449S)	Single nucleotide variant (missense variant)	ALPK2-related disorder	GBenign
Select item 1739705	NM_052947.4(ALPK2):c.4321A>G (p.Met1441Val)	ALPK2, LOC126862764 (M1441V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3059596	NM_052947.4(ALPK2):c.4299G>A (p.Gly1433=)	ALPK2, LOC126862764	Single nucleotide variant (synonymous variant)	ALPK2-related disorder	GBenign
Select item 3055496	NM_052947.4(ALPK2):c.4283A>G (p.Gln1428Arg)	ALPK2, LOC126862764 (Q1428R)	Single nucleotide variant (missense variant)	ALPK2-related disorder	GBenign
Select item 3060951	NM_052947.4(ALPK2):c.4161CTT[1] (p.Phe1389del)	ALPK2, LOC126862764 (F1389del)	Microsatellite	ALPK2-related disorder	GBenign
Select item 1738159	NM_052947.4(ALPK2):c.4140A>G (p.Gln1380=)	ALPK2, LOC126862764	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3059851	NM_052947.4(ALPK2):c.4008C>G (p.Pro1336=)	ALPK2, LOC126862764	Single nucleotide variant (synonymous variant)	ALPK2-related disorder	GBenign
Select item 3060661	NM_052947.4(ALPK2):c.3972T>C (p.His1324=)	ALPK2, LOC126862764	Single nucleotide variant (synonymous variant)	ALPK2-related disorder	GBenign
Select item 1733419	NM_052947.4(ALPK2):c.3631G>A (p.Val1211Ile)	LOC126862764, ALPK2 (V1211I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance