"Ambry Genetics"[submitter] AND "KATNAL2"[gene] - ClinVar

Search results

Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2595284	NM_016427.3(ELOA2):c.2203G>C (p.Val735Leu)	ELOA2, KATNAL2 (V735L)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2545107	NM_016427.3(ELOA2):c.1928G>A (p.Cys643Tyr)	ELOA2, KATNAL2 (C643Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2479079	NM_016427.3(ELOA2):c.1703A>G (p.Tyr568Cys)	ELOA2, KATNAL2 (Y568C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2528433	NM_016427.3(ELOA2):c.1691C>T (p.Pro564Leu)	ELOA2, KATNAL2 (P564L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2589285	NM_016427.3(ELOA2):c.1574A>G (p.Gln525Arg)	ELOA2, KATNAL2 (Q525R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2485800	NM_016427.3(ELOA2):c.1538C>T (p.Pro513Leu)	ELOA2, KATNAL2 (P513L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2555635	NM_016427.3(ELOA2):c.1516C>G (p.Arg506Gly)	ELOA2, KATNAL2 (R506G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2465396	NM_016427.3(ELOA2):c.1297G>A (p.Val433Ile)	ELOA2, KATNAL2 (V433I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2600902	NM_016427.3(ELOA2):c.1253A>G (p.Lys418Arg)	ELOA2, KATNAL2 (K418R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2541954	NM_016427.3(ELOA2):c.1122G>C (p.Glu374Asp)	ELOA2, KATNAL2 (E374D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2487112	NM_016427.3(ELOA2):c.1052C>T (p.Pro351Leu)	ELOA2, KATNAL2 (P351L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2466185	NM_016427.3(ELOA2):c.691C>A (p.Arg231Ser)	ELOA2, KATNAL2 (R231S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2618726	NM_016427.3(ELOA2):c.623G>T (p.Cys208Phe)	ELOA2, KATNAL2 (C208F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2524261	NM_016427.3(ELOA2):c.593C>T (p.Thr198Ile)	ELOA2, KATNAL2 (T198I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2510703	NM_016427.3(ELOA2):c.593C>G (p.Thr198Ser)	ELOA2, KATNAL2 (T198S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2599858	NM_016427.3(ELOA2):c.592A>G (p.Thr198Ala)	ELOA2, KATNAL2 (T198A)	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2548067	NM_016427.3(ELOA2):c.566C>T (p.Pro189Leu)	ELOA2, KATNAL2 (P189L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2510232	NM_016427.3(ELOA2):c.544G>A (p.Glu182Lys)	ELOA2, KATNAL2 (E182K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2492717	NM_016427.3(ELOA2):c.506G>C (p.Arg169Pro)	ELOA2, KATNAL2 (R169P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2566060	NM_016427.3(ELOA2):c.480A>G (p.Ile160Met)	ELOA2, KATNAL2 (I160M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2588258	NM_016427.3(ELOA2):c.35A>G (p.Glu12Gly)	ELOA2, KATNAL2 (E12G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 587812	NM_001387690.1(KATNAL2):c.290-5C>A	KATNAL2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1765800	NM_001387690.1(KATNAL2):c.306G>A (p.Pro102=)	KATNAL2	Single nucleotide variant (synonymous variant +3 more)	KATNAL2-related condition +1 more	GLikely benign
Select item 588799	NM_001387690.1(KATNAL2):c.333G>A (p.Arg111=)	KATNAL2	Single nucleotide variant (synonymous variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 521273	NM_001387690.1(KATNAL2):c.376C>T (p.Gln126Ter)	KATNAL2 (Q54* +4 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GUncertain significance
Select item 589106	NM_001387690.1(KATNAL2):c.385C>T (p.Arg129Trp)	KATNAL2 (R57W +4 more)	Single nucleotide variant (missense variant +1 more)	KATNAL2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2397783	NM_001387690.1(KATNAL2):c.401C>T (p.Ala134Val)	KATNAL2 (A134V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 587958	NM_001387690.1(KATNAL2):c.402G>A (p.Ala134=)	KATNAL2	Single nucleotide variant (synonymous variant +1 more)	KATNAL2-related condition +2 more	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)	KATNAL2-related condition +1 more	GLikely benign
Select item 589722	NM_001387690.1(KATNAL2):c.470G>A (p.Arg157His)	KATNAL2 (R85H +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 587805	NM_001387690.1(KATNAL2):c.479G>A (p.Ser160Asn)	KATNAL2 (S88N +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GBenign
Select item 1795404	NM_001387690.1(KATNAL2):c.489C>T (p.Phe163=)	KATNAL2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2325906	NM_001387690.1(KATNAL2):c.503C>T (p.Ser168Leu)	KATNAL2 (S57L +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1729931	NM_001387690.1(KATNAL2):c.545G>A (p.Arg182Gln)	KATNAL2 (R110Q +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 588292	NM_001387690.1(KATNAL2):c.649-3C>T	KATNAL2	Single nucleotide variant (intron variant)	KATNAL2-related condition +2 more	GLikely benign
Select item 1742822	NM_001387690.1(KATNAL2):c.690C>G (p.Asn230Lys)	KATNAL2 (N119K +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	KATNAL2-related condition +1 more	GConflicting classifications of pathogenicity
Select item 1743897	NM_001387690.1(KATNAL2):c.705A>T (p.Glu235Asp)	KATNAL2 (E124D +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2594556	NM_001387690.1(KATNAL2):c.715G>A (p.Val239Met)	KATNAL2 (V167M +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2287284	NM_001387690.1(KATNAL2):c.718G>A (p.Val240Met)	KATNAL2 (V129M +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 589208	NM_001387690.1(KATNAL2):c.749A>G (p.Asn250Ser)	KATNAL2 (N178S +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1748693	NM_001387690.1(KATNAL2):c.777T>C (p.Leu259=)	KATNAL2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1749609	NM_001387690.1(KATNAL2):c.793T>G (p.Leu265Val)	KATNAL2 (L154V +4 more)	Single nucleotide variant (missense variant +1 more)	KATNAL2-related condition +1 more	GBenign
Select item 2553685	NM_001387690.1(KATNAL2):c.814T>C (p.Tyr272His)	KATNAL2 (Y272H +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1752145	NM_001387690.1(KATNAL2):c.835C>A (p.Leu279Ile)	KATNAL2 (L168I +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1754644	NM_001387690.1(KATNAL2):c.880_883del (p.Gly294fs)	KATNAL2 (G294fs +6 more)	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 587875	NM_001387690.1(KATNAL2):c.882C>T (p.Gly294=)	KATNAL2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GBenign
Select item 1755200	NM_001387690.1(KATNAL2):c.890-3T>C	KATNAL2	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1325554	NM_001387690.1(KATNAL2):c.905T>C (p.Leu302Ser)	KATNAL2 (L158S +6 more)	Single nucleotide variant (missense variant +1 more)	See cases +1 more	GUncertain significance
Select item 589740	NM_001387690.1(KATNAL2):c.909G>A (p.Leu303=)	KATNAL2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 587978	NM_001387690.1(KATNAL2):c.959C>T (p.Ala320Val)	KATNAL2 (A248V +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 588449	NM_001387690.1(KATNAL2):c.985G>A (p.Gly329Arg)	KATNAL2 (G257R +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1760999	NM_001387690.1(KATNAL2):c.1003G>C (p.Val335Leu)	KATNAL2 (V191L +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1760994	NM_001387690.1(KATNAL2):c.1003G>A (p.Val335Ile)	KATNAL2 (V360I +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1762122	NM_001387690.1(KATNAL2):c.1028G>A (p.Arg343His)	KATNAL2 (R199H +6 more)	Single nucleotide variant (missense variant +1 more)	KATNAL2-related condition +1 more	GLikely benign
Select item 2537374	NM_001387690.1(KATNAL2):c.1036G>A (p.Ala346Thr)	KATNAL2 (A274T +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 588062	NM_001387690.1(KATNAL2):c.1123C>A (p.Arg375=)	KATNAL2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1765738	NM_001387690.1(KATNAL2):c.1124G>A (p.Arg375Gln)	KATNAL2 (R231Q +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2327529	NM_001387690.1(KATNAL2):c.1137G>T (p.Glu379Asp)	KATNAL2 (E372D +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1767435	NM_001387690.1(KATNAL2):c.1173A>T (p.Glu391Asp)	KATNAL2 (E247D +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 589744	NM_001387690.1(KATNAL2):c.1173A>C (p.Glu391Asp)	KATNAL2 (E319D +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 589724	NM_001387690.1(KATNAL2):c.1260C>T (p.Val420=)	KATNAL2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1775293	NM_001387690.1(KATNAL2):c.1261G>A (p.Asp421Asn)	KATNAL2 (D277N +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1778930	NM_001387690.1(KATNAL2):c.1273C>T (p.Arg425Trp)	KATNAL2 (R450W +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1783940	NM_001387690.1(KATNAL2):c.1288G>T (p.Ala430Ser)	KATNAL2 (A286S +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1783900	NM_001387690.1(KATNAL2):c.1288G>A (p.Ala430Thr)	KATNAL2 (A456T +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2209016	NM_001387690.1(KATNAL2):c.1289C>A (p.Ala430Asp)	KATNAL2 (A358D +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 588217	NM_001387690.1(KATNAL2):c.1300C>T (p.His434Tyr)	KATNAL2 (H362Y +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 588712	NM_001387690.1(KATNAL2):c.1329G>A (p.Arg443=)	KATNAL2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1732368	NM_001387690.1(KATNAL2):c.1361G>A (p.Ser454Asn)	KATNAL2 (S382N +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1732712	NM_001387690.1(KATNAL2):c.1362T>C (p.Ser454=)	KATNAL2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 587831	NM_001387690.1(KATNAL2):c.1380T>G (p.Thr460=)	KATNAL2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GBenign
Select item 1741097	NM_001387690.1(KATNAL2):c.1393G>C (p.Gly465Arg)	KATNAL2 (G393R +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1742196	NM_001387690.1(KATNAL2):c.1396T>C (p.Ser466Pro)	KATNAL2 (S322P +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1750893	NM_001387690.1(KATNAL2):c.1429A>G (p.Met477Val)	KATNAL2 (M502V +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2494665	NM_001387690.1(KATNAL2):c.1435C>T (p.Pro479Ser)	KATNAL2 (P335S +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 588410	NM_001387690.1(KATNAL2):c.1485C>T (p.Ser495=)	KATNAL2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 587899	NM_001387690.1(KATNAL2):c.1504T>C (p.Leu502=)	KATNAL2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2570490	NM_001387690.1(KATNAL2):c.1511T>C (p.Ile504Thr)	KATNAL2 (I432T +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1769391	NM_001387690.1(KATNAL2):c.1516A>G (p.Thr506Ala)	KATNAL2 (T395A +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 587900	NM_001387690.1(KATNAL2):c.1539G>T (p.Val513=)	KATNAL2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2615188	NM_001387690.1(KATNAL2):c.1561G>A (p.Ala521Thr)	KATNAL2 (A449T +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 588797	NM_001387690.1(KATNAL2):c.1582T>C (p.Tyr528His)	KATNAL2 (Y456H +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 83