ClinVar for Gene (Select 4122) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 128

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3122518	NM_006122.4(MAN2A2):c.927G>A (p.Met309Ile)	MAN2A2 (M309I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122517	NM_006122.4(MAN2A2):c.737C>T (p.Ala246Val)	MAN2A2 (A246V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122515	NM_006122.4(MAN2A2):c.629G>A (p.Arg210His)	MAN2A2 (R210H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122514	NM_006122.4(MAN2A2):c.367C>T (p.Arg123Trp)	MAN2A2 (R123W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122513	NM_006122.4(MAN2A2):c.3448G>A (p.Gly1150Ser)	MAN2A2 (G1150S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122512	NM_006122.4(MAN2A2):c.3403G>A (p.Val1135Ile)	MAN2A2 (V1135I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3122511	NM_006122.4(MAN2A2):c.3217G>A (p.Ala1073Thr)	MAN2A2 (A1073T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122510	NM_006122.4(MAN2A2):c.2974C>T (p.Arg992Trp)	MAN2A2 (R992W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122509	NM_006122.4(MAN2A2):c.2930A>G (p.Lys977Arg)	MAN2A2 (K977R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122508	NM_006122.4(MAN2A2):c.2752C>G (p.Leu918Val)	MAN2A2 (L918V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122506	NM_006122.4(MAN2A2):c.2734T>C (p.Tyr912His)	MAN2A2 (Y912H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122505	NM_006122.4(MAN2A2):c.2494G>A (p.Val832Met)	MAN2A2 (V832M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122504	NM_006122.4(MAN2A2):c.2483A>G (p.Lys828Arg)	MAN2A2 (K828R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122503	NM_006122.4(MAN2A2):c.2358G>T (p.Arg786Ser)	MAN2A2 (R786S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122502	NM_006122.4(MAN2A2):c.2221C>T (p.Arg741Trp)	MAN2A2 (R741W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122501	NM_006122.4(MAN2A2):c.2186C>T (p.Thr729Met)	MAN2A2 (T729M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122500	NM_006122.4(MAN2A2):c.2182C>T (p.Arg728Cys)	MAN2A2 (R728C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122499	NM_006122.4(MAN2A2):c.2083A>G (p.Thr695Ala)	MAN2A2 (T695A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122498	NM_006122.4(MAN2A2):c.2020C>A (p.Arg674Ser)	MAN2A2 (R674S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122497	NM_006122.4(MAN2A2):c.1678C>T (p.Arg560Trp)	MAN2A2 (R560W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122496	NM_006122.4(MAN2A2):c.1637G>C (p.Gly546Ala)	MAN2A2 (G546A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122495	NM_006122.4(MAN2A2):c.1618C>T (p.Arg540Cys)	MAN2A2 (R540C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122494	NM_006122.4(MAN2A2):c.1166G>A (p.Arg389Gln)	MAN2A2 (R389Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122493	NM_006122.4(MAN2A2):c.1136G>A (p.Arg379His)	MAN2A2 (R379H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2645715	NM_006122.4(MAN2A2):c.1269T>G (p.Leu423=)	MAN2A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2645714	NM_006122.4(MAN2A2):c.1197-4C>G	MAN2A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2622881	NM_006122.4(MAN2A2):c.1378C>A (p.Gln460Lys)	MAN2A2 (Q460K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615732	NM_006122.4(MAN2A2):c.2669C>A (p.Thr890Lys)	MAN2A2 (T890K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614622	NM_006122.4(MAN2A2):c.2960G>A (p.Arg987His)	MAN2A2 (R987H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610743	NM_006122.4(MAN2A2):c.3233G>T (p.Arg1078Leu)	MAN2A2 (R1078L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602503	NM_006122.4(MAN2A2):c.1916C>T (p.Thr639Met)	MAN2A2 (T639M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595428	NM_006122.4(MAN2A2):c.2537C>T (p.Ala846Val)	MAN2A2 (A846V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2594036	NM_006122.4(MAN2A2):c.2303G>A (p.Arg768His)	MAN2A2 (R768H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593477	NM_006122.4(MAN2A2):c.2945C>T (p.Thr982Ile)	MAN2A2 (T982I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
Select item 2560217	NM_006122.4(MAN2A2):c.2695T>G (p.Phe899Val)	MAN2A2 (F899V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546626	NM_006122.4(MAN2A2):c.2918G>A (p.Gly973Asp)	MAN2A2 (G973D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535397	NM_006122.4(MAN2A2):c.3325G>A (p.Gly1109Ser)	MAN2A2 (G1134S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526634	NM_006122.4(MAN2A2):c.2959C>T (p.Arg987Cys)	MAN2A2 (R987C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520156	NM_006122.4(MAN2A2):c.2284G>A (p.Asp762Asn)	MAN2A2 (D762N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2520096	NM_006122.4(MAN2A2):c.2086G>A (p.Glu696Lys)	MAN2A2 (E696K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519513	NM_006122.4(MAN2A2):c.2015G>A (p.Arg672His)	MAN2A2 (R672H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515975	NM_006122.4(MAN2A2):c.212T>G (p.Ile71Ser)	MAN2A2 (I71S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511081	NM_006122.4(MAN2A2):c.371G>T (p.Gly124Val)	MAN2A2 (G124V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510123	NM_006122.4(MAN2A2):c.1244G>A (p.Arg415Gln)	MAN2A2 (R415Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509135	NM_006122.4(MAN2A2):c.1309G>A (p.Ala437Thr)	MAN2A2 (A437T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2498631	GRCh37/hg19 15q25.2-26.3(chr15:84228005-102264590)x3	SEC11A, SELENOS +86 more	Copy number gain	not provided	GPathogenic
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	ISLR2, MESD +209 more	Copy number gain	not provided	GPathogenic
Select item 2488808	NM_006122.4(MAN2A2):c.1121G>A (p.Arg374His)	MAN2A2 (R374H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477320	NM_006122.4(MAN2A2):c.368G>A (p.Arg123Gln)	MAN2A2 (R123Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2422891	NC_000015.9:g.(?_89379429)_(91565479_?)dup	LINC00928, PLIN1 +37 more	Duplication	D-2-hydroxyglutaric aciduria 2	GUncertain significance
Select item 2412556	NM_006122.4(MAN2A2):c.695C>G (p.Ala232Gly)	MAN2A2 (A232G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412435	NM_006122.4(MAN2A2):c.3260C>A (p.Ala1087Asp)	MAN2A2 (A1112D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2412013	NM_006122.4(MAN2A2):c.243C>A (p.Asn81Lys)	MAN2A2 (N81K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410812	NM_006122.4(MAN2A2):c.3095A>T (p.Gln1032Leu)	MAN2A2 (Q1057L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398183	NM_006122.4(MAN2A2):c.1621C>T (p.Arg541Cys)	MAN2A2 (R541C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393903	NM_006122.4(MAN2A2):c.2125C>T (p.Arg709Cys)	MAN2A2 (R709C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377119	NM_006122.4(MAN2A2):c.1852C>T (p.Pro618Ser)	MAN2A2 (P618S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375307	NM_006122.4(MAN2A2):c.2677G>A (p.Asp893Asn)	MAN2A2 (D893N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369273	NM_006122.4(MAN2A2):c.848G>A (p.Arg283His)	MAN2A2 (R283H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363756	NM_006122.4(MAN2A2):c.1013C>T (p.Ser338Leu)	MAN2A2 (S338L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354398	NM_006122.4(MAN2A2):c.3068C>G (p.Ala1023Gly)	MAN2A2 (A1023G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348187	NM_006122.4(MAN2A2):c.2261G>A (p.Arg754His)	MAN2A2 (R754H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340942	NM_006122.4(MAN2A2):c.2644A>C (p.Lys882Gln)	MAN2A2 (K882Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338097	NM_006122.4(MAN2A2):c.395T>C (p.Leu132Pro)	MAN2A2 (L132P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323928	NM_006122.4(MAN2A2):c.2006A>G (p.Asn669Ser)	MAN2A2 (N669S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2309355	NM_006122.4(MAN2A2):c.2980A>T (p.Thr994Ser)	MAN2A2 (T994S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305705	NM_006122.4(MAN2A2):c.454T>C (p.Phe152Leu)	MAN2A2 (F152L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299380	NM_006122.4(MAN2A2):c.720C>G (p.Asn240Lys)	MAN2A2 (N240K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295365	NM_006122.4(MAN2A2):c.2855A>G (p.Lys952Arg)	MAN2A2 (K952R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292085	NM_006122.4(MAN2A2):c.457G>A (p.Asp153Asn)	MAN2A2 (D153N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290931	NM_006122.4(MAN2A2):c.2410A>G (p.Thr804Ala)	MAN2A2 (T804A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288925	NM_006122.4(MAN2A2):c.353T>G (p.Phe118Cys)	MAN2A2 (F118C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279699	NM_006122.4(MAN2A2):c.2310G>A (p.Met770Ile)	MAN2A2 (M770I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278757	NM_006122.4(MAN2A2):c.3209C>T (p.Ala1070Val)	MAN2A2 (A1070V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2256920	NM_006122.4(MAN2A2):c.829A>C (p.Asn277His)	MAN2A2 (N277H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246646	NM_006122.4(MAN2A2):c.978C>A (p.His326Gln)	MAN2A2 (H326Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238858	NM_006122.4(MAN2A2):c.2536G>A (p.Ala846Thr)	MAN2A2 (A846T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231459	NM_006122.4(MAN2A2):c.3233G>A (p.Arg1078His)	MAN2A2 (R1103H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221445	NM_006122.4(MAN2A2):c.3436C>T (p.Arg1146Cys)	MAN2A2 (R1146C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218205	NM_006122.4(MAN2A2):c.3206C>T (p.Ser1069Leu)	MAN2A2 (S1069L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209343	NM_006122.4(MAN2A2):c.391A>G (p.Met131Val)	MAN2A2 (M131V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1810294	GRCh37/hg19 15q26.1(chr15:91422650-91497515)x1	FES, FURIN +3 more	Copy number loss	not provided	Gnot provided
Select item 1809424	GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3	ABHD17C, ABHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 1340806	GRCh37/hg19 15q26.1(chr15:89520451-93926491)x1	ABHD2, ANPEP +41 more	Copy number loss	not provided	GPathogenic
Select item 1328111	GRCh37/hg19 15q25.3-26.2(chr15:88465861-94411846)x1	ABHD2, ACAN +50 more	Copy number loss	not provided	GPathogenic
Select item 1287755	NM_006122.4(MAN2A2):c.1794C>T (p.Val598=)	MAN2A2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1287649	NM_006122.4(MAN2A2):c.2158C>T (p.Leu720=)	MAN2A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1227165	NM_006122.4(MAN2A2):c.72C>T (p.Leu24=)	LOC130057949, MAN2A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1225768	NM_006122.4(MAN2A2):c.1235A>G (p.Gln412Arg)	MAN2A2 (Q412R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1027033	NC_000015.9:g.(?_91290623)_(91512067_?)dup	BLM, FES +6 more	Duplication	Bloom syndrome	GUncertain significance
Select item 983158	GRCh37/hg19 15q25.3-26.3(chr15:86962053-102531392)x1	ABHD2, ACAN +77 more	Copy number loss	See cases	GPathogenic
Select item 833278	NC_000015.10:g.(?_90782812)_(90968837_?)dup	BLM, FES +6 more	Duplication	Bloom syndrome	GUncertain significance
Select item 815747	GRCh37/hg19 15q26.1(chr15:91347599-91491931)x1	HDDC3, FURIN +4 more	Copy number loss	not provided	GUncertain significance
Select item 815743	GRCh37/hg19 15q25.3-26.3(chr15:87189245-102429112)x1	ABHD2, ACAN +76 more	Copy number loss	not provided	GPathogenic
Select item 691390	NM_006122.4(MAN2A2):c.478G>A (p.Asp160Asn)	MAN2A2 (D160N)	Single nucleotide variant (missense variant +1 more)	Aganglionic megacolon	GUncertain significance
Select item 688677	GRCh37/hg19 15q26.1(chr15:91276782-91550953)x1	BLM, FES +7 more	Copy number loss	not provided	GUncertain significance
Select item 687287	GRCh37/hg19 15q26.1(chr15:91229877-93677014)x1	BLM, C15orf32 +14 more	Copy number loss	not provided	GPathogenic
Select item 686177	GRCh37/hg19 15q26.1-26.3(chr15:90288175-102429112)x3	ADAMTS17, ALDH1A3 +54 more	Copy number gain	not provided	GPathogenic
Select item 625751	GRCh37/hg19 15q25.2-26.1(chr15:83883823-92165844)	ABHD2, ACAN +58 more	Copy number loss	not provided	GPathogenic

<< First< Prev

Page of 2