KATNAL2[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	LOC105372173, LOC105372179 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC105372069, LOC105372071 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC121852961, LOC121852962 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062369, LOC130062370 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC130062321, LOC130062322 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	LOC130062687, LOC130062688 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	ABHD3, ACAA2 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	CDH7, CELF4 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062768, LOC130062769 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	LOC130062608, LOC130062609 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	LOC130062514, LOC130062515 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	ABHD3, ACAA2 +1266 more	Copy number gain	See cases	GPathogenic
Select item 147738	GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3	LINC01902, LINC01903 +1005 more	Copy number gain	See cases	GPathogenic
Select item 59960	GRCh38/hg38 18q12.2-21.1(chr18:36859191-47164436)x1	ARK2C, ARK2N +119 more	Copy number loss	See cases	GPathogenic
Select item 147762	GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3	LOC126862765, LOC126862766 +596 more	Copy number gain	See cases	GPathogenic
Select item 154074	GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3	ACAA2, ADNP2 +887 more	Copy number gain	See cases	GPathogenic
Select item 154629	GRCh38/hg38 18q12.3-21.1(chr18:41722823-49043887)x1	ARK2C, ARK2N +147 more	Copy number loss	See cases	GPathogenic
Select item 148972	GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3	LOC130062712, LOC130062713 +879 more	Copy number gain	See cases	GPathogenic
Select item 155662	GRCh38/hg38 18q21.1(chr18:46923513-46959260)x1	KATNAL2, LOC130062439	Copy number loss	See cases	GUncertain significance
Select item 3046920	NM_001387690.1(KATNAL2):c.-338A>T	KATNAL2	Single nucleotide variant (synonymous variant +2 more)	KATNAL2-related condition	GLikely benign
Select item 2634467	NM_001387690.1(KATNAL2):c.-9C>T	KATNAL2 (Q24*)	Single nucleotide variant (non-coding transcript variant +2 more)	KATNAL2-related condition	GUncertain significance
Select item 154239	GRCh38/hg38 18q21.1(chr18:46958020-47093435)x3	ELOA2, KATNAL2 +1 more	Copy number gain	See cases	GUncertain significance
Select item 2648705	NM_001387690.1(KATNAL2):c.51+16256C>T	KATNAL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2648706	NM_001387690.1(KATNAL2):c.51+16829C>T	KATNAL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 545224	NC_000018.10:g.(?_47026162)_(47075742_?)del	ELOA2, KATNAL2 +1 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 150786	GRCh38/hg38 18q21.1(chr18:47031778-47042531)x3	ELOA2, KATNAL2	Copy number gain	See cases	GLikely benign
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 147049	GRCh38/hg38 18q21.1(chr18:47034029-47035526)x3	ELOA2, KATNAL2	Copy number gain	See cases	GBenign
Select item 2648707	NM_016427.3(ELOA2):c.1177C>A (p.Arg393=)	ELOA2, KATNAL2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 161702	NM_016427.3(ELOA2):c.367T>C (p.Ser123Pro)	ELOA2, KATNAL2 (S123P)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of prostate	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 155393	GRCh38/hg38 18q21.1(chr18:47037809-47065491)x1	KATNAL2	Copy number loss	See cases	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 condition	GLikely benign
Select item 2648708	NM_001387690.1(KATNAL2):c.118G>A (p.Glu40Lys)	KATNAL2 (E40K +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2634344	NM_001387690.1(KATNAL2):c.172C>T (p.Arg58Ter)	KATNAL2 (R58* +1 more)	Single nucleotide variant (nonsense +3 more)	KATNAL2-related condition	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 condition	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 condition	GUncertain significance
Select item 2634049	NM_001387690.1(KATNAL2):c.289+3A>G	KATNAL2	Single nucleotide variant (intron variant)	KATNAL2-related condition	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 2689279	NM_001387690.1(KATNAL2):c.331del (p.Arg111fs)	KATNAL2 (R111fs +3 more)	Deletion (frameshift variant +3 more)	not provided	GUncertain significance
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 3041342	NM_001387690.1(KATNAL2):c.387G>A (p.Arg129=)	KATNAL2	Single nucleotide variant (synonymous variant +1 more)	KATNAL2-related condition	GLikely benign
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 3026127	NM_001387690.1(KATNAL2):c.425C>T (p.Ser142Leu)	KATNAL2 (S142L +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3051116	NM_001387690.1(KATNAL2):c.451-4T>C	KATNAL2	Single nucleotide variant (intron variant)	KATNAL2-related condition	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 2629419	NM_001387690.1(KATNAL2):c.652C>T (p.Arg218Ter)	KATNAL2 (R107* +4 more)	Single nucleotide variant (nonsense +1 more)	KATNAL2-related condition	GUncertain significance
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 3047664	NM_001387690.1(KATNAL2):c.714C>T (p.Ala238=)	KATNAL2	Single nucleotide variant (synonymous variant +1 more)	KATNAL2-related condition	GLikely benign
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 1098699	NM_001387690.1(KATNAL2):c.736C>A (p.Leu246Ile)	KATNAL2 (L135I +4 more)	Single nucleotide variant (missense variant +1 more)	KATNAL2-related condition +1 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)	KATNAL2-related condition +1 more	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 3042341	NM_001387690.1(KATNAL2):c.825+8C>T	KATNAL2	Single nucleotide variant (intron variant)	KATNAL2-related condition	GLikely benign
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

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