ClinVar for Gene (Select 4124) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3292827	NM_002372.4(MAN2A1):c.2473C>G (p.Pro825Ala)	MAN2A1 (P825A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292825	NM_002372.4(MAN2A1):c.3061G>A (p.Ala1021Thr)	MAN2A1 (A1021T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3292824	NM_002372.4(MAN2A1):c.30C>A (p.Phe10Leu)	MAN2A1, MAN2A1-DT (F10L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3292823	NM_002372.4(MAN2A1):c.83G>A (p.Arg28Gln)	MAN2A1, MAN2A1-DT (R28Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3292822	NM_002372.4(MAN2A1):c.2810C>T (p.Ala937Val)	MAN2A1 (A937V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292821	NM_002372.4(MAN2A1):c.3419G>A (p.Arg1140Gln)	MAN2A1 (R1140Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292820	NM_002372.4(MAN2A1):c.2627G>A (p.Arg876His)	MAN2A1 (R876H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292819	NM_002372.4(MAN2A1):c.481T>C (p.Trp161Arg)	MAN2A1 (W161R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292818	NM_002372.4(MAN2A1):c.464C>A (p.Thr155Asn)	MAN2A1 (T155N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122492	NM_002372.4(MAN2A1):c.346T>C (p.Cys116Arg)	MAN2A1 (C116R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122491	NM_002372.4(MAN2A1):c.3364G>A (p.Gly1122Ser)	MAN2A1 (G1122S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122490	NM_002372.4(MAN2A1):c.28T>G (p.Phe10Val)	MAN2A1, MAN2A1-DT (F10V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3122489	NM_002372.4(MAN2A1):c.2531A>G (p.His844Arg)	MAN2A1 (H844R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122488	NM_002372.4(MAN2A1):c.2499G>T (p.Arg833Ser)	MAN2A1 (R833S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122487	NM_002372.4(MAN2A1):c.2288C>G (p.Ser763Cys)	MAN2A1 (S763C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122486	NM_002372.4(MAN2A1):c.2230G>A (p.Gly744Arg)	MAN2A1 (G744R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122485	NM_002372.4(MAN2A1):c.2048T>C (p.Val683Ala)	MAN2A1 (V683A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122484	NM_002372.4(MAN2A1):c.1967T>C (p.Leu656Ser)	MAN2A1 (L656S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3122483	NM_002372.4(MAN2A1):c.194A>G (p.Asn65Ser)	MAN2A1 (N65S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122482	NM_002372.4(MAN2A1):c.148A>G (p.Met50Val)	MAN2A1 (M50V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122481	NM_002372.4(MAN2A1):c.1438G>C (p.Asp480His)	MAN2A1 (D480H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122480	NM_002372.4(MAN2A1):c.140A>C (p.Gln47Pro)	MAN2A1 (Q47P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122479	NM_002372.4(MAN2A1):c.1223G>T (p.Arg408Leu)	MAN2A1 (R408L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122478	NM_002372.4(MAN2A1):c.1202G>A (p.Arg401Gln)	MAN2A1 (R401Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3122477	NM_002372.4(MAN2A1):c.119A>G (p.Glu40Gly)	MAN2A1, MAN2A1-DT (E40G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3062852	GRCh37/hg19 5q21.3-22.1(chr5:106275906-109636670)x1	EFNA5, FBXL17 +3 more	Copy number loss	not specified	GUncertain significance
Select item 3062848	GRCh37/hg19 5q15-23.2(chr5:93828571-123711334)x1	AP3S1, APC +80 more	Copy number loss	not specified	GPathogenic
Select item 2671613	Single allele	CAMK4, EFNA5 +11 more	Deletion	not provided	GUncertain significance
Select item 2622606	NM_002372.4(MAN2A1):c.2071T>G (p.Trp691Gly)	MAN2A1 (W691G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616615	NM_002372.4(MAN2A1):c.290G>A (p.Gly97Asp)	MAN2A1 (G97D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607931	NM_002372.4(MAN2A1):c.2724C>A (p.Ser908Arg)	MAN2A1 (S908R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605547	NM_002372.4(MAN2A1):c.940G>A (p.Val314Ile)	MAN2A1 (V314I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597799	NM_002372.4(MAN2A1):c.2039G>C (p.Gly680Ala)	MAN2A1 (G680A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557633	NM_002372.4(MAN2A1):c.2750A>G (p.Tyr917Cys)	MAN2A1 (Y917C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556728	NM_002372.4(MAN2A1):c.795T>A (p.Asp265Glu)	MAN2A1 (D265E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524521	NM_002372.4(MAN2A1):c.2819T>C (p.Leu940Ser)	MAN2A1 (L940S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514930	NM_002372.4(MAN2A1):c.1039C>T (p.His347Tyr)	MAN2A1 (H347Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509453	NM_002372.4(MAN2A1):c.2636C>T (p.Ala879Val)	MAN2A1 (A879V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2499479	GRCh37/hg19 5q21.3-22.1(chr5:108634380-110629961)x3	CAMK4, MAN2A1 +5 more	Copy number gain	See cases	GUncertain significance
Select item 2492853	NM_002372.4(MAN2A1):c.1951G>C (p.Val651Leu)	MAN2A1 (V651L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472323	NM_002372.4(MAN2A1):c.1171A>G (p.Ile391Val)	MAN2A1 (I391V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466420	NM_002372.4(MAN2A1):c.2771A>G (p.Tyr924Cys)	MAN2A1 (Y924C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456988	NM_002372.4(MAN2A1):c.2132C>T (p.Pro711Leu)	MAN2A1 (P711L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454690	NM_002372.4(MAN2A1):c.2828C>T (p.Ser943Leu)	MAN2A1 (S943L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402648	NM_002372.4(MAN2A1):c.949G>A (p.Ala317Thr)	MAN2A1 (A317T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394889	NM_002372.4(MAN2A1):c.3088G>C (p.Glu1030Gln)	MAN2A1 (E1030Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2394367	NM_002372.4(MAN2A1):c.673A>G (p.Ile225Val)	MAN2A1 (I225V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392866	NM_002372.4(MAN2A1):c.3058A>G (p.Met1020Val)	MAN2A1 (M1020V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384003	NM_002372.4(MAN2A1):c.1797T>G (p.Ile599Met)	MAN2A1 (I599M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380764	NM_002372.4(MAN2A1):c.595A>G (p.Met199Val)	MAN2A1 (M199V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361700	NM_002372.4(MAN2A1):c.3098G>A (p.Gly1033Asp)	MAN2A1 (G1033D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351818	NM_002372.4(MAN2A1):c.2272A>G (p.Ile758Val)	MAN2A1 (I758V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349662	NM_002372.4(MAN2A1):c.2783C>T (p.Ala928Val)	MAN2A1 (A928V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338597	NM_002372.4(MAN2A1):c.1357T>A (p.Ser453Thr)	MAN2A1 (S453T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332675	NM_002372.4(MAN2A1):c.1547G>A (p.Arg516Gln)	MAN2A1 (R516Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331875	NM_002372.4(MAN2A1):c.398A>G (p.Asp133Gly)	MAN2A1 (D133G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327295	NM_002372.4(MAN2A1):c.2773A>C (p.Ile925Leu)	MAN2A1 (I925L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327249	NM_002372.4(MAN2A1):c.2411A>G (p.Lys804Arg)	MAN2A1 (K804R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325704	NM_002372.4(MAN2A1):c.2560A>G (p.Ile854Val)	MAN2A1 (I854V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2314366	NM_002372.4(MAN2A1):c.2731C>A (p.Pro911Thr)	MAN2A1 (P911T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309909	NM_002372.4(MAN2A1):c.1310T>C (p.Leu437Ser)	MAN2A1 (L437S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307314	NM_002372.4(MAN2A1):c.3423C>G (p.Ile1141Met)	MAN2A1 (I1141M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304552	NM_002372.4(MAN2A1):c.683T>C (p.Ile228Thr)	MAN2A1 (I228T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301210	NM_002372.4(MAN2A1):c.2012C>T (p.Pro671Leu)	MAN2A1 (P671L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290993	NM_002372.4(MAN2A1):c.184C>G (p.Leu62Val)	MAN2A1 (L62V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286683	NM_002372.4(MAN2A1):c.2303G>A (p.Arg768Gln)	MAN2A1 (R768Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282675	NM_002372.4(MAN2A1):c.2286C>A (p.Asn762Lys)	MAN2A1 (N762K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279989	NM_002372.4(MAN2A1):c.854G>C (p.Gly285Ala)	MAN2A1 (G285A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271695	NM_002372.4(MAN2A1):c.514C>A (p.Pro172Thr)	MAN2A1 (P172T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253317	NM_002372.4(MAN2A1):c.1160C>G (p.Pro387Arg)	MAN2A1 (P387R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253178	NM_002372.4(MAN2A1):c.2153A>G (p.Tyr718Cys)	MAN2A1 (Y718C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245130	NM_002372.4(MAN2A1):c.1630A>G (p.Ile544Val)	MAN2A1 (I544V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230168	NM_002372.4(MAN2A1):c.2120G>A (p.Arg707Gln)	MAN2A1 (R707Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226553	NM_002372.4(MAN2A1):c.1633A>G (p.Asn545Asp)	MAN2A1 (N545D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223411	NM_002372.4(MAN2A1):c.3179A>G (p.Asn1060Ser)	MAN2A1 (N1060S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2216869	NM_002372.4(MAN2A1):c.1286A>T (p.Tyr429Phe)	MAN2A1 (Y429F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213134	NM_002372.4(MAN2A1):c.3162A>G (p.Ile1054Met)	MAN2A1 (I1054M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809422	GRCh37/hg19 5q21.3-22.1(chr5:108523293-110365350)x1	FER, MAN2A1 +3 more	Copy number loss	not provided	GUncertain significance
Select item 1808412	GRCh37/hg19 5q21.3-22.1(chr5:108884219-110357965)x3	SLC25A46, MAN2A1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1527183	GRCh37/hg19 5q21.1-23.2(chr5:100607918-125900735)	CAMK4, CCDC112 +60 more	Copy number loss	not specified	GPathogenic
Select item 1527179	GRCh37/hg19 5q15-22.3(chr5:93650000-114969108)	DCP2, EFNA5 +56 more	Copy number loss	not specified	GPathogenic
Select item 816490	GRCh37/hg19 5q14.3-21.3(chr5:87792844-109221844)x3	CAST, CETN3 +45 more	Copy number gain	See cases	GLikely pathogenic
Select item 814722	GRCh37/hg19 5q21.3(chr5:109172485-109290057)x1	MAN2A1	Copy number loss	not provided	GUncertain significance
Select item 786060	NM_002372.4(MAN2A1):c.2567-9T>A	MAN2A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 688598	GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3	ADAMTS19, ADGRV1 +104 more	Copy number gain	not provided	GPathogenic
Select item 685538	GRCh37/hg19 5q21.3-23.1(chr5:108304806-121335239)x1	AP3S1, APC +39 more	Copy number loss	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	ACSL6, ADAMTS19 +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 442882	GRCh37/hg19 5q21.3-22.1(chr5:108604653-110636716)x4	CAMK4, MAN2A1 +5 more	Copy number gain	See cases	GUncertain significance
Select item 442744	GRCh37/hg19 5q21.3-22.1(chr5:109146807-111474789)x4	CAMK4, MAN2A1 +6 more	Copy number gain	See cases	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC126807500, LOC126807501 +689 more	Copy number loss	See cases	GPathogenic
Select item 155259	GRCh38/hg38 5q21.3-23.2(chr5:108308463-125777797)x1	LOC129994389, LOC129994390 +340 more	Copy number loss	See cases	GPathogenic
Select item 155182	GRCh38/hg38 5q15-22.2(chr5:93193104-113287795)x1	APC, ARB2A +343 more	Copy number loss	See cases	GPathogenic
Select item 153994	GRCh38/hg38 5q21.3-22.2(chr5:106586078-113006585)x1	EPB41L4A-DT, APC +134 more	Copy number loss	See cases	GPathogenic
Select item 152734	GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1	DMXL1, DMXL1-DT +496 more	Copy number loss	See cases	GPathogenic

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