"KATNAL2-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3046920	NM_001387690.1(KATNAL2):c.-338A>T	KATNAL2	Single nucleotide variant (synonymous variant +2 more)	KATNAL2-related disorder	GLikely benign
Select item 2634467	NM_001387690.1(KATNAL2):c.-9C>T	KATNAL2 (Q24*)	Single nucleotide variant (nonsense +2 more)	KATNAL2-related disorder	GUncertain significance
Select item 3042694	NM_001387690.1(KATNAL2):c.83A>G (p.Asn28Ser)	KATNAL2 (N28S +1 more)	Single nucleotide variant (missense variant +3 more)	KATNAL2-related disorder	GLikely benign
Select item 2634344	NM_001387690.1(KATNAL2):c.172C>T (p.Arg58Ter)	KATNAL2 (R58* +1 more)	Single nucleotide variant (nonsense +3 more)	KATNAL2-related disorder	GUncertain significance
Select item 3054103	NM_001387690.1(KATNAL2):c.173G>A (p.Arg58Gln)	KATNAL2 (R58Q +1 more)	Single nucleotide variant (missense variant +3 more)	KATNAL2-related disorder	GLikely benign
Select item 3057709	NM_001387690.1(KATNAL2):c.272A>G (p.Lys91Arg)	KATNAL2 (K117R +2 more)	Single nucleotide variant (missense variant +3 more)	KATNAL2-related disorder	GUncertain significance
Select item 2634049	NM_001387690.1(KATNAL2):c.289+3A>G	KATNAL2	Single nucleotide variant (intron variant)	KATNAL2-related disorder	GUncertain significance
Select item 1765800	NM_001387690.1(KATNAL2):c.306G>A (p.Pro102=)	KATNAL2	Single nucleotide variant (synonymous variant +3 more)	not specified +1 more	GLikely benign
Select item 589106	NM_001387690.1(KATNAL2):c.385C>T (p.Arg129Trp)	KATNAL2 (R57W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3041342	NM_001387690.1(KATNAL2):c.387G>A (p.Arg129=)	KATNAL2	Single nucleotide variant (synonymous variant +1 more)	KATNAL2-related disorder	GLikely benign
Select item 587958	NM_001387690.1(KATNAL2):c.402G>A (p.Ala134=)	KATNAL2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 3051116	NM_001387690.1(KATNAL2):c.451-4T>C	KATNAL2	Single nucleotide variant (intron variant)	KATNAL2-related disorder	GLikely benign
Select item 1792508	NM_001387690.1(KATNAL2):c.467C>G (p.Thr156Ser)	KATNAL2 (T84S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GLikely benign
Select item 588292	NM_001387690.1(KATNAL2):c.649-3C>T	KATNAL2	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 2629419	NM_001387690.1(KATNAL2):c.652C>T (p.Arg218Ter)	KATNAL2 (R107* +4 more)	Single nucleotide variant (nonsense +1 more)	KATNAL2-related disorder	GUncertain significance
Select item 589770	NM_001387690.1(KATNAL2):c.691A>G (p.Ser231Gly)	KATNAL2 (S159G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3047664	NM_001387690.1(KATNAL2):c.714C>T (p.Ala238=)	KATNAL2	Single nucleotide variant (synonymous variant +1 more)	KATNAL2-related disorder	GLikely benign
Select item 1098699	NM_001387690.1(KATNAL2):c.736C>A (p.Leu246Ile)	KATNAL2 (L135I +4 more)	Single nucleotide variant (missense variant +1 more)	KATNAL2-related disorder +2 more	GUncertain significance
Select item 978127	NM_001387690.1(KATNAL2):c.739C>T (p.His247Tyr)	KATNAL2 (H136Y +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 1749609	NM_001387690.1(KATNAL2):c.793T>G (p.Leu265Val)	KATNAL2 (L154V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 3042341	NM_001387690.1(KATNAL2):c.825+8C>T	KATNAL2	Single nucleotide variant (intron variant)	KATNAL2-related disorder	GLikely benign
Select item 1762122	NM_001387690.1(KATNAL2):c.1028G>A (p.Arg343His)	KATNAL2 (R199H +6 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GLikely benign
Select item 2637154	NM_001387690.1(KATNAL2):c.1111G>A (p.Glu371Lys)	KATNAL2 (E227K +6 more)	Single nucleotide variant (missense variant +1 more)	KATNAL2-related disorder	GUncertain significance
Select item 3060275	NM_001387690.1(KATNAL2):c.1211+6886T>C	KATNAL2	Single nucleotide variant (synonymous variant +1 more)	KATNAL2-related disorder	GBenign
Select item 2629643	NM_001387690.1(KATNAL2):c.1211+6922A>G	KATNAL2 (I302V)	Single nucleotide variant (missense variant +2 more)	KATNAL2-related disorder	GUncertain significance
Select item 3047642	NM_001387690.1(KATNAL2):c.1212-1075A>G	KATNAL2	Single nucleotide variant (intron variant)	KATNAL2-related disorder	GLikely benign
Select item 3060277	NM_001387690.1(KATNAL2):c.1212-1009dup	KATNAL2 (C343fs +4 more)	Duplication (frameshift variant +3 more)	KATNAL2-related disorder	GBenign
Select item 3037293	NM_001387690.1(KATNAL2):c.1212-956_1212-954del	KATNAL2 (K301del +3 more)	Microsatellite (inframe deletion +3 more)	KATNAL2-related disorder	GBenign
Select item 3034175	NM_001387690.1(KATNAL2):c.1212-907G>T	KATNAL2 (E315* +3 more)	Single nucleotide variant (nonsense +3 more)	KATNAL2-related disorder	GBenign
Select item 589724	NM_001387690.1(KATNAL2):c.1260C>T (p.Val420=)	KATNAL2	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 3052860	NM_001387690.1(KATNAL2):c.1382A>G (p.Glu461Gly)	KATNAL2 (E317G +5 more)	Single nucleotide variant (missense variant +1 more)	KATNAL2-related disorder	GUncertain significance
Select item 2632757	NM_001387690.1(KATNAL2):c.1403T>C (p.Ile468Thr)	KATNAL2 (I324T +5 more)	Single nucleotide variant (missense variant +1 more)	KATNAL2-related disorder	GUncertain significance
Select item 3049860	NM_001387690.1(KATNAL2):c.1477+8T>C	KATNAL2	Single nucleotide variant (intron variant)	KATNAL2-related disorder	GLikely benign

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Items: 33