ClinVar for Gene (Select 84190) - ClinVar

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

Links from Gene

Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3294449	NM_032230.3(METTL25):c.434A>G (p.Gln145Arg)	METTL25 (Q145R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294448	NM_032230.3(METTL25):c.414C>G (p.Asn138Lys)	METTL25 (N86K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3294447	NM_032230.3(METTL25):c.1016C>T (p.Ala339Val)	METTL25 (A287V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294446	NM_032230.3(METTL25):c.1349G>A (p.Arg450His)	METTL25 (R450H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294445	NM_032230.3(METTL25):c.1672A>T (p.Ile558Leu)	METTL25 (I506L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294443	NM_032230.3(METTL25):c.940C>T (p.Leu314Phe)	METTL25 (L262F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125533	NM_032230.3(METTL25):c.587A>G (p.Tyr196Cys)	METTL25 (Y196C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125532	NM_032230.3(METTL25):c.550G>A (p.Gly184Ser)	METTL25 (G132S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125531	NM_032230.3(METTL25):c.518A>G (p.Tyr173Cys)	METTL25 (Y173C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3125530	NM_032230.3(METTL25):c.37C>G (p.Leu13Val)	CCDC59, METTL25 (L13V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3125529	NM_032230.3(METTL25):c.1777T>C (p.Cys593Arg)	METTL25 (C506R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125528	NM_032230.3(METTL25):c.1774A>G (p.Arg592Gly)	METTL25 (R540G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125527	NM_032230.3(METTL25):c.1678A>G (p.Thr560Ala)	METTL25 (T508A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125526	NM_032230.3(METTL25):c.151G>C (p.Val51Leu)	CCDC59, METTL25 (V51L)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3125525	NM_032230.3(METTL25):c.1430G>A (p.Arg477His)	METTL25 (R390H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125524	NM_032230.3(METTL25):c.1309A>G (p.Met437Val)	METTL25 (M437V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125523	NM_032230.3(METTL25):c.1082C>T (p.Ser361Phe)	METTL25 (S361F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063243	GRCh37/hg19 12q21.1-21.33(chr12:74887087-90469800)x1	ACSS3, ALX1 +43 more	Copy number loss	not specified	GPathogenic
Select item 2685441	GRCh37/hg19 12q21.31(chr12:80647969-85713707)x1	ACSS3, ALX1 +12 more	Copy number loss	not provided	GUncertain significance
Select item 2685054	GRCh37/hg19 12q21.31(chr12:82424439-83222097)x4	CCDC59, METTL25 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2620848	NM_032230.3(METTL25):c.614C>T (p.Ser205Phe)	METTL25 (S153F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610163	NM_032230.3(METTL25):c.128C>T (p.Thr43Ile)	CCDC59, METTL25 (T43I)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2607702	NM_032230.3(METTL25):c.1472C>T (p.Thr491Ile)	METTL25 (T491I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607448	NM_032230.3(METTL25):c.1037T>C (p.Met346Thr)	METTL25 (M346T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2606168	NM_032230.3(METTL25):c.5C>T (p.Ala2Val)	CCDC59, METTL25 (A2V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2594131	NM_032230.3(METTL25):c.181G>T (p.Ala61Ser)	CCDC59, METTL25 (A61S)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2532618	NM_032230.3(METTL25):c.493C>A (p.Leu165Met)	METTL25 (L165M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474727	NM_032230.3(METTL25):c.1646T>C (p.Met549Thr)	METTL25 (M462T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459521	NM_032230.3(METTL25):c.1384C>T (p.Arg462Trp)	METTL25 (R462W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362389	NM_032230.3(METTL25):c.353A>T (p.Gln118Leu)	METTL25 (Q31L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362388	NM_032230.3(METTL25):c.347C>T (p.Ser116Phe)	METTL25 (S116F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342093	NM_032230.3(METTL25):c.1196C>T (p.Thr399Ile)	METTL25 (T312I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335724	NM_032230.3(METTL25):c.445G>C (p.Glu149Gln)	METTL25 (E62Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331020	NM_032230.3(METTL25):c.598G>T (p.Val200Phe)	METTL25 (V113F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315772	NM_032230.3(METTL25):c.172G>A (p.Val58Met)	CCDC59, METTL25 (V58M)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2310782	NM_032230.3(METTL25):c.425G>A (p.Gly142Asp)	METTL25 (G142D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2305863	NM_032230.3(METTL25):c.182C>G (p.Ala61Gly)	CCDC59, METTL25 (A61G)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2305203	NM_032230.3(METTL25):c.1576C>T (p.Pro526Ser)	METTL25 (P439S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304235	NM_032230.3(METTL25):c.1619G>A (p.Arg540Gln)	METTL25 (R488Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300515	NM_032230.3(METTL25):c.196G>A (p.Ala66Thr)	CCDC59, METTL25 (A66T)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2288572	NM_032230.3(METTL25):c.1199C>A (p.Ser400Tyr)	METTL25 (S313Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2287789	NM_032230.3(METTL25):c.16C>T (p.Pro6Ser)	CCDC59, METTL25 (P6S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2266743	NM_032230.3(METTL25):c.125A>G (p.Tyr42Cys)	CCDC59, METTL25 (Y42C)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2265615	NM_032230.3(METTL25):c.973C>T (p.Pro325Ser)	METTL25 (P238S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259946	NM_032230.3(METTL25):c.1608G>C (p.Lys536Asn)	METTL25 (K484N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238576	NM_032230.3(METTL25):c.1706A>C (p.Tyr569Ser)	METTL25 (Y482S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2231544	NM_032230.3(METTL25):c.949C>A (p.Leu317Ile)	METTL25 (L230I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228445	NM_032230.3(METTL25):c.1528T>C (p.Tyr510His)	METTL25 (Y510H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228273	NM_032230.3(METTL25):c.841T>A (p.Phe281Ile)	METTL25 (F194I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215570	NM_032230.3(METTL25):c.1294A>G (p.Lys432Glu)	METTL25 (K345E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215228	NM_032230.3(METTL25):c.1667C>T (p.Pro556Leu)	METTL25 (P556L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209868	NM_032230.3(METTL25):c.95C>G (p.Ser32Cys)	CCDC59, METTL25 (S32C)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 1527718	GRCh37/hg19 12q21.31(chr12:82315146-83005702)	CCDC59, METTL25	Copy number loss	not specified	GUncertain significance
Select item 687328	GRCh37/hg19 12q21.2-22(chr12:77737623-94330526)x1	ACSS3, ALX1 +46 more	Copy number loss	not provided	GPathogenic
Select item 625562	GRCh37/hg19 12q21.31-21.32(chr12:82183041-88755577)	ALX1, C12orf29 +12 more	Copy number gain	not provided	GPathogenic
Select item 563970	GRCh37/hg19 12q21.31(chr12:81666797-82808748)x3	METTL25, PPFIA2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 155032	GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1	ACSS3, ALX1 +287 more	Copy number loss	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 92017	NM_032230.3(METTL25):c.208G>A (p.Glu70Lys)	CCDC59, METTL25 (E70K)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 59816	GRCh38/hg38 12q21.2-21.31(chr12:77564757-85370822)x3	ACSS3, ALX1 +66 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 63