25387[HGNC] - 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	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	ANKRD12, ANKRD29 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	LOC126862717, LOC126862718 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	LOC132090510, LOC132090511 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC132211113, LOC132211114 +1266 more	Copy number gain	See cases	GPathogenic
Select item 147738	GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3	LOC130062787, LOC130062788 +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	ACAA2, ALPK2 +596 more	Copy number gain	See cases	GPathogenic
Select item 154074	GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3	LOC130062694, LOC130062695 +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	LINC01929, LINC02565 +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 disorder	GLikely benign
Select item 3349788	NM_001387690.1(KATNAL2):c.-313T>A	KATNAL2 (F13I)	Single nucleotide variant (missense variant +2 more)	KATNAL2-related disorder	GUncertain significance
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 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 3352660	NM_001387690.1(KATNAL2):c.52-17901T>C	KATNAL2	Single nucleotide variant (intron variant)	ELOA3P-related condition	GLikely benign
Select item 3349331	NM_001387690.1(KATNAL2):c.52-17841G>A	KATNAL2	Single nucleotide variant (intron variant)	ELOA3P-related condition	GLikely benign
Select item 3356626	NM_001387690.1(KATNAL2):c.52-17681T>G	KATNAL2	Single nucleotide variant (intron variant)	ELOA3P-related condition	GLikely benign
Select item 150786	GRCh38/hg38 18q21.1(chr18:47031778-47042531)x3	ELOA2, KATNAL2	Copy number gain	See cases	GLikely benign
Select item 3088417	NM_016427.3(ELOA2):c.2242A>G (p.Arg748Gly)	ELOA2, KATNAL2 (R748G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595284	NM_016427.3(ELOA2):c.2203G>C (p.Val735Leu)	ELOA2, KATNAL2 (V735L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088415	NM_016427.3(ELOA2):c.2192C>T (p.Ala731Val)	ELOA2, KATNAL2 (A731V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088414	NM_016427.3(ELOA2):c.2183G>T (p.Arg728Leu)	ELOA2, KATNAL2 (R728L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275210	NM_016427.3(ELOA2):c.2174C>A (p.Ala725Asp)	ELOA2, KATNAL2 (A725D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088413	NM_016427.3(ELOA2):c.2145C>G (p.Ser715Arg)	ELOA2, KATNAL2 (S715R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088411	NM_016427.3(ELOA2):c.2031G>T (p.Lys677Asn)	ELOA2, KATNAL2 (K677N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088409	NM_016427.3(ELOA2):c.2027C>T (p.Ser676Phe)	ELOA2, KATNAL2 (S676F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088408	NM_016427.3(ELOA2):c.1946A>G (p.Lys649Arg)	ELOA2, KATNAL2 (K649R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545107	NM_016427.3(ELOA2):c.1928G>A (p.Cys643Tyr)	ELOA2, KATNAL2 (C643Y)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3088407	NM_016427.3(ELOA2):c.1922T>C (p.Met641Thr)	ELOA2, KATNAL2 (M641T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088405	NM_016427.3(ELOA2):c.1889G>A (p.Arg630His)	ELOA2, KATNAL2 (R630H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088404	NM_016427.3(ELOA2):c.1859G>C (p.Arg620Thr)	ELOA2, KATNAL2 (R620T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088403	NM_016427.3(ELOA2):c.1835C>G (p.Pro612Arg)	ELOA2, KATNAL2 (P612R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3088401	NM_016427.3(ELOA2):c.1750T>G (p.Leu584Val)	ELOA2, KATNAL2 (L584V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088400	NM_016427.3(ELOA2):c.1732G>C (p.Val578Leu)	ELOA2, KATNAL2 (V578L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088399	NM_016427.3(ELOA2):c.1706G>T (p.Arg569Leu)	ELOA2, KATNAL2 (R569L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479079	NM_016427.3(ELOA2):c.1703A>G (p.Tyr568Cys)	ELOA2, KATNAL2 (Y568C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528433	NM_016427.3(ELOA2):c.1691C>T (p.Pro564Leu)	ELOA2, KATNAL2 (P564L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275205	NM_016427.3(ELOA2):c.1678G>A (p.Glu560Lys)	ELOA2, KATNAL2 (E560K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275204	NM_016427.3(ELOA2):c.1645G>A (p.Glu549Lys)	ELOA2, KATNAL2 (E549K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088397	NM_016427.3(ELOA2):c.1637A>C (p.Asp546Ala)	ELOA2, KATNAL2 (D546A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275209	NM_016427.3(ELOA2):c.1605G>C (p.Gln535His)	ELOA2, KATNAL2 (Q535H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088396	NM_016427.3(ELOA2):c.1588C>T (p.Arg530Cys)	ELOA2, KATNAL2 (R530C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589285	NM_016427.3(ELOA2):c.1574A>G (p.Gln525Arg)	ELOA2, KATNAL2 (Q525R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485800	NM_016427.3(ELOA2):c.1538C>T (p.Pro513Leu)	ELOA2, KATNAL2 (P513L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2555635	NM_016427.3(ELOA2):c.1516C>G (p.Arg506Gly)	ELOA2, KATNAL2 (R506G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3088395	NM_016427.3(ELOA2):c.1427C>T (p.Pro476Leu)	ELOA2, KATNAL2 (P476L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088394	NM_016427.3(ELOA2):c.1379C>T (p.Ser460Leu)	ELOA2, KATNAL2 (S460L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088393	NM_016427.3(ELOA2):c.1360G>T (p.Val454Leu)	ELOA2, KATNAL2 (V454L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088391	NM_016427.3(ELOA2):c.1348G>A (p.Gly450Arg)	ELOA2, KATNAL2 (G450R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088390	NM_016427.3(ELOA2):c.1345G>C (p.Ala449Pro)	ELOA2, KATNAL2 (A449P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088389	NM_016427.3(ELOA2):c.1340A>T (p.Asp447Val)	ELOA2, KATNAL2 (D447V)	Single nucleotide variant (intron variant +1 more)	not specified	GUncertain significance
Select item 3088388	NM_016427.3(ELOA2):c.1304A>G (p.Glu435Gly)	ELOA2, KATNAL2 (E435G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088387	NM_016427.3(ELOA2):c.1297G>C (p.Val433Leu)	ELOA2, KATNAL2 (V433L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465396	NM_016427.3(ELOA2):c.1297G>A (p.Val433Ile)	ELOA2, KATNAL2 (V433I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600902	NM_016427.3(ELOA2):c.1253A>G (p.Lys418Arg)	ELOA2, KATNAL2 (K418R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 147049	GRCh38/hg38 18q21.1(chr18:47034029-47035526)x3	ELOA2, KATNAL2	Copy number gain	See cases	GBenign
Select item 3088386	NM_016427.3(ELOA2):c.1219C>T (p.Leu407Phe)	ELOA2, KATNAL2 (L407F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275203	NM_016427.3(ELOA2):c.1214C>A (p.Thr405Asn)	ELOA2, KATNAL2 (T405N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3088385	NM_016427.3(ELOA2):c.1168G>C (p.Asp390His)	ELOA2, KATNAL2 (D390H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541954	NM_016427.3(ELOA2):c.1122G>C (p.Glu374Asp)	ELOA2, KATNAL2 (E374D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088384	NM_016427.3(ELOA2):c.1076C>A (p.Thr359Lys)	ELOA2, KATNAL2 (T359K)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3088383	NM_016427.3(ELOA2):c.1069G>C (p.Asp357His)	ELOA2, KATNAL2 (D357H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487112	NM_016427.3(ELOA2):c.1052C>T (p.Pro351Leu)	ELOA2, KATNAL2 (P351L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088382	NM_016427.3(ELOA2):c.1039C>G (p.Gln347Glu)	ELOA2, KATNAL2 (Q347E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088381	NM_016427.3(ELOA2):c.1027G>C (p.Asp343His)	ELOA2, KATNAL2 (D343H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088380	NM_016427.3(ELOA2):c.1008G>C (p.Glu336Asp)	ELOA2, KATNAL2 (E336D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088446	NM_016427.3(ELOA2):c.968G>A (p.Arg323Gln)	ELOA2, KATNAL2 (R323Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088445	NM_016427.3(ELOA2):c.948G>C (p.Lys316Asn)	ELOA2, KATNAL2 (K316N)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3088444	NM_016427.3(ELOA2):c.938C>G (p.Ser313Trp)	ELOA2, KATNAL2 (S313W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088443	NM_016427.3(ELOA2):c.899C>A (p.Ala300Asp)	ELOA2, KATNAL2 (A300D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088442	NM_016427.3(ELOA2):c.897G>C (p.Glu299Asp)	ELOA2, KATNAL2 (E299D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088441	NM_016427.3(ELOA2):c.871G>A (p.Gly291Ser)	ELOA2, KATNAL2 (G291S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3088440	NM_016427.3(ELOA2):c.856G>C (p.Gly286Arg)	ELOA2, KATNAL2 (G286R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088439	NM_016427.3(ELOA2):c.842C>G (p.Thr281Arg)	ELOA2, KATNAL2 (T281R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088438	NM_016427.3(ELOA2):c.836T>A (p.Phe279Tyr)	ELOA2, KATNAL2 (F279Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088437	NM_016427.3(ELOA2):c.824A>C (p.Gln275Pro)	ELOA2, KATNAL2 (Q275P)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3275212	NM_016427.3(ELOA2):c.774A>C (p.Leu258Phe)	ELOA2, KATNAL2 (L258F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088435	NM_016427.3(ELOA2):c.734C>A (p.Ser245Tyr)	ELOA2, KATNAL2 (S245Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088434	NM_016427.3(ELOA2):c.711G>C (p.Leu237Phe)	ELOA2, KATNAL2 (L237F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088433	NM_016427.3(ELOA2):c.702A>C (p.Lys234Asn)	ELOA2, KATNAL2 (K234N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088432	NM_016427.3(ELOA2):c.691C>T (p.Arg231Cys)	ELOA2, KATNAL2 (R231C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466185	NM_016427.3(ELOA2):c.691C>A (p.Arg231Ser)	ELOA2, KATNAL2 (R231S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088431	NM_016427.3(ELOA2):c.652A>G (p.Lys218Glu)	ELOA2, KATNAL2 (K218E)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2618726	NM_016427.3(ELOA2):c.623G>T (p.Cys208Phe)	ELOA2, KATNAL2 (C208F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275201	NM_016427.3(ELOA2):c.608G>A (p.Gly203Asp)	ELOA2, KATNAL2 (G203D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524261	NM_016427.3(ELOA2):c.593C>T (p.Thr198Ile)	ELOA2, KATNAL2 (T198I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510703	NM_016427.3(ELOA2):c.593C>G (p.Thr198Ser)	ELOA2, KATNAL2 (T198S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign

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