Related gene-specific medical variations for Gene (Select 83473) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3275214	NM_016427.3(ELOA2):c.298G>A (p.Gly100Arg)	ELOA2, KATNAL2 (G100R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3275213	NM_016427.3(ELOA2):c.317A>C (p.Gln106Pro)	ELOA2, KATNAL2 (Q106P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3275211	NM_016427.3(ELOA2):c.496G>A (p.Gly166Ser)	ELOA2, KATNAL2 (G166S)	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 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 3275206	NM_016427.3(ELOA2):c.469T>C (p.Cys157Arg)	ELOA2, KATNAL2 (C157R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
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 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 3275202	NM_016427.3(ELOA2):c.242G>C (p.Arg81Pro)	ELOA2, KATNAL2 (R81P)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
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 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 3088436	NM_016427.3(ELOA2):c.80T>A (p.Leu27Gln)	ELOA2, KATNAL2 (L27Q)	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 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 3088430	NM_016427.3(ELOA2):c.64A>G (p.Thr22Ala)	ELOA2, KATNAL2 (T22A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088429	NM_016427.3(ELOA2):c.571A>G (p.Lys191Glu)	ELOA2, KATNAL2 (K191E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088428	NM_016427.3(ELOA2):c.563C>T (p.Ala188Val)	ELOA2, KATNAL2 (A188V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3088427	NM_016427.3(ELOA2):c.511T>C (p.Ser171Pro)	ELOA2, KATNAL2 (S171P)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3088426	NM_016427.3(ELOA2):c.509C>A (p.Ala170Asp)	ELOA2, KATNAL2 (A170D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088425	NM_016427.3(ELOA2):c.494C>T (p.Ser165Phe)	ELOA2, KATNAL2 (S165F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088424	NM_016427.3(ELOA2):c.494C>G (p.Ser165Cys)	ELOA2, KATNAL2 (S165C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088423	NM_016427.3(ELOA2):c.488C>G (p.Ala163Gly)	ELOA2, KATNAL2 (A163G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088422	NM_016427.3(ELOA2):c.45G>C (p.Gln15His)	ELOA2, KATNAL2 (Q15H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088421	NM_016427.3(ELOA2):c.449A>G (p.Glu150Gly)	ELOA2, KATNAL2 (E150G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088420	NM_016427.3(ELOA2):c.440A>C (p.His147Pro)	ELOA2, KATNAL2 (H147P)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3088419	NM_016427.3(ELOA2):c.355C>T (p.Pro119Ser)	ELOA2, KATNAL2 (P119S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088418	NM_016427.3(ELOA2):c.324G>T (p.Lys108Asn)	ELOA2, KATNAL2 (K108N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3088416	NM_016427.3(ELOA2):c.219G>C (p.Trp73Cys)	ELOA2, KATNAL2 (W73C)	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 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 3088412	NM_016427.3(ELOA2):c.204C>A (p.Asp68Glu)	ELOA2, KATNAL2 (D68E)	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 3088410	NM_016427.3(ELOA2):c.202G>A (p.Asp68Asn)	ELOA2, KATNAL2 (D68N)	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 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 3088406	NM_016427.3(ELOA2):c.191A>G (p.Asp64Gly)	ELOA2, KATNAL2 (D64G)	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 3088402	NM_016427.3(ELOA2):c.181C>T (p.His61Tyr)	ELOA2, KATNAL2 (H61Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3088398	NM_016427.3(ELOA2):c.169C>T (p.Arg57Trp)	ELOA2, KATNAL2 (R57W)	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 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 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 3088392	NM_016427.3(ELOA2):c.134C>A (p.Ala45Glu)	ELOA2, KATNAL2 (A45E)	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 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 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 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 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 2689280	NM_001387690.1(KATNAL2):c.1117A>G (p.Ser373Gly)	KATNAL2 (S229G +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2685620	GRCh37/hg19 18q21.1(chr18:44564162-44629319)x1	KATNAL2	Copy number loss	not provided	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 2648706	NM_001387690.1(KATNAL2):c.51+16829C>T	KATNAL2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2648705	NM_001387690.1(KATNAL2):c.51+16256C>T	KATNAL2	Single nucleotide variant (intron variant)	not provided	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 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 2599858	NM_016427.3(ELOA2):c.592A>G (p.Thr198Ala)	ELOA2, KATNAL2 (T198A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
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 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 2588258	NM_016427.3(ELOA2):c.35A>G (p.Glu12Gly)	ELOA2, KATNAL2 (E12G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2566060	NM_016427.3(ELOA2):c.480A>G (p.Ile160Met)	ELOA2, KATNAL2 (I160M)	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 2548067	NM_016427.3(ELOA2):c.566C>T (p.Pro189Leu)	ELOA2, KATNAL2 (P189L)	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 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 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 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
Select item 2510232	NM_016427.3(ELOA2):c.544G>A (p.Glu182Lys)	ELOA2, KATNAL2 (E182K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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