"ANKLE2-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3036132	NM_015114.3(ANKLE2):c.*8G>A	ANKLE2	Single nucleotide variant (3 prime UTR variant)	ANKLE2-related disorder	GLikely benign
Select item 755265	NM_015114.3(ANKLE2):c.2809G>A (p.Ala937Thr)	ANKLE2 (A937T)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 731799	NM_015114.3(ANKLE2):c.2808C>T (p.Ala936=)	ANKLE2	Single nucleotide variant (synonymous variant)	ANKLE2-related disorder +1 more	GLikely benign
Select item 3055782	NM_015114.3(ANKLE2):c.2730A>G (p.Pro910=)	ANKLE2	Single nucleotide variant (synonymous variant)	ANKLE2-related disorder	GLikely benign
Select item 720959	NM_015114.3(ANKLE2):c.2539G>A (p.Val847Ile)	ANKLE2 (V847I)	Single nucleotide variant (missense variant)	ANKLE2-related disorder +2 more	GBenign/Likely benign
Select item 737629	NM_015114.3(ANKLE2):c.2502C>T (p.Leu834=)	ANKLE2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3033904	NM_015114.3(ANKLE2):c.2189C>T (p.Ser730Leu)	ANKLE2 (S730L)	Single nucleotide variant (missense variant)	ANKLE2-related disorder	GLikely benign
Select item 3061493	NM_015114.3(ANKLE2):c.2136G>A (p.Ala712=)	ANKLE2	Single nucleotide variant (synonymous variant)	ANKLE2-related disorder	GLikely benign
Select item 3044232	NM_015114.3(ANKLE2):c.2100G>A (p.Gly700=)	ANKLE2	Single nucleotide variant (synonymous variant)	ANKLE2-related disorder	GLikely benign
Select item 2350555	NM_015114.3(ANKLE2):c.2072C>T (p.Pro691Leu)	ANKLE2 (P691L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 3054584	NM_015114.3(ANKLE2):c.2011C>T (p.His671Tyr)	ANKLE2 (H671Y)	Single nucleotide variant (missense variant)	ANKLE2-related disorder	GLikely benign
Select item 3048920	NM_015114.3(ANKLE2):c.1992C>G (p.Pro664=)	ANKLE2	Single nucleotide variant (synonymous variant)	ANKLE2-related disorder	GLikely benign
Select item 3051107	NM_015114.3(ANKLE2):c.1892-11_1892-9del	ANKLE2	Microsatellite (intron variant)	ANKLE2-related disorder	GLikely benign
Select item 739769	NM_015114.3(ANKLE2):c.1874A>T (p.Asp625Val)	ANKLE2 (D625V)	Single nucleotide variant (missense variant)	ANKLE2-related disorder +2 more	GLikely benign
Select item 735374	NM_015114.3(ANKLE2):c.1668G>A (p.Ser556=)	ANKLE2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 747923	NM_015114.3(ANKLE2):c.1473C>T (p.Ile491=)	ANKLE2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 730330	NM_015114.3(ANKLE2):c.863C>T (p.Ser288Leu)	ANKLE2 (S288L)	Single nucleotide variant (missense variant)	ANKLE2-related disorder +2 more	GLikely benign
Select item 728967	NM_015114.3(ANKLE2):c.252C>T (p.Ile84=)	ANKLE2	Single nucleotide variant (synonymous variant)	ANKLE2-related disorder +1 more	GLikely benign
Select item 2350180	NM_015114.3(ANKLE2):c.110C>G (p.Pro37Arg)	ANKLE2 (P37R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 806973	NM_015114.3(ANKLE2):c.19G>A (p.Ala7Thr)	ANKLE2 (A7T)	Single nucleotide variant (missense variant)	Microcephaly 16, primary, autosomal recessive +3 more	GConflicting classifications of pathogenicity

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