METTL25B[gene] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 151159	GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3	ADAM15, ADAM15-EFNA4 +297 more	Copy number gain	See cases	GPathogenic
Select item 3125546	NM_015997.4(METTL25B):c.47A>G (p.Gln16Arg)	METTL25B (Q16R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125557	NM_015997.4(METTL25B):c.83A>G (p.Tyr28Cys)	METTL25B (Y28C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457598	NM_015997.4(METTL25B):c.133T>C (p.Trp45Arg)	METTL25B (W45R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489445	NM_015997.4(METTL25B):c.136G>C (p.Asp46His)	METTL25B (D46H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294455	NM_015997.4(METTL25B):c.281C>T (p.Thr94Met)	METTL25B (T94M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125542	NM_015997.4(METTL25B):c.362G>A (p.Arg121Gln)	METTL25B (R121Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614086	NM_015997.4(METTL25B):c.379C>T (p.Arg127Trp)	METTL25B (R127W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470270	NM_015997.4(METTL25B):c.380G>A (p.Arg127Gln)	METTL25B (R127Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125543	NM_015997.4(METTL25B):c.382A>G (p.Lys128Glu)	METTL25B (K128E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125544	NM_015997.4(METTL25B):c.449A>G (p.Asp150Gly)	METTL25B (D150G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125545	NM_015997.4(METTL25B):c.478G>A (p.Val160Met)	METTL25B (V160M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125547	NM_015997.4(METTL25B):c.531G>T (p.Leu177Phe)	METTL25B (L177F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125548	NM_015997.4(METTL25B):c.568G>A (p.Glu190Lys)	METTL25B (E190K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519804	NM_015997.4(METTL25B):c.656G>A (p.Arg219His)	METTL25B (R219H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125549	NM_015997.4(METTL25B):c.673G>A (p.Val225Met)	METTL25B (V225M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125550	NM_015997.4(METTL25B):c.690C>A (p.Asp230Glu)	METTL25B (D230E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125551	NM_015997.4(METTL25B):c.716T>C (p.Leu239Pro)	METTL25B (L239P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125553	NM_015997.4(METTL25B):c.751C>T (p.Arg251Cys)	METTL25B (R251C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125552	NM_015997.4(METTL25B):c.751C>G (p.Arg251Gly)	METTL25B (R251G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125554	NM_015997.4(METTL25B):c.752G>A (p.Arg251His)	METTL25B (R251H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125555	NM_015997.4(METTL25B):c.767G>A (p.Gly256Asp)	METTL25B (G256D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125556	NM_015997.4(METTL25B):c.784G>A (p.Asp262Asn)	METTL25B (D262N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592830	NM_015997.4(METTL25B):c.797C>G (p.Ala266Gly)	METTL25B (A266G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593021	NM_015997.4(METTL25B):c.922T>C (p.Tyr308His)	METTL25B (Y308H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125558	NM_015997.4(METTL25B):c.944G>A (p.Arg315Gln)	METTL25B (R315Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478346	NM_015997.4(METTL25B):c.964C>G (p.Leu322Val)	METTL25B (L322V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125534	NM_015997.4(METTL25B):c.1017C>G (p.His339Gln)	METTL25B (H339Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125535	NM_015997.4(METTL25B):c.1024C>G (p.Arg342Gly)	METTL25B (R342G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294451	NM_015997.4(METTL25B):c.1047C>G (p.Ile349Met)	METTL25B (I349M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125536	NM_015997.4(METTL25B):c.1051C>T (p.Arg351Trp)	METTL25B (R351W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125537	NM_015997.4(METTL25B):c.1058G>A (p.Arg353Gln)	METTL25B (R353Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3125538	NM_015997.4(METTL25B):c.1072C>G (p.Arg358Gly)	METTL25B (R358G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125539	NM_015997.4(METTL25B):c.1094C>A (p.Pro365His)	METTL25B (P365H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294454	NM_015997.4(METTL25B):c.1105G>A (p.Glu369Lys)	METTL25B (E369K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125540	NM_015997.4(METTL25B):c.1178T>C (p.Leu393Pro)	METTL25B (L393P)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3294452	NM_015997.4(METTL25B):c.1265C>T (p.Thr422Met)	METTL25B (T422M)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3125541	NM_015997.4(METTL25B):c.1282C>T (p.Arg428Trp)	METTL25B (R428W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294450	NM_015997.4(METTL25B):c.1293C>T (p.Tyr431=)	METTL25B (P270S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2477999	NM_015997.4(METTL25B):c.1321C>T (p.Leu441Phe)	METTL25B (L441F)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3294453	NM_015997.4(METTL25B):c.1387C>G (p.Leu463Val)	METTL25B (L463V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3242278	GRCh37/hg19 1q22-23.2(chr1:155709113-159191078)x3	ACKR1, AIM2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3063199	GRCh37/hg19 1q21.3-23.1(chr1:154302443-156868186)x1	ADAM15, ADAR +85 more	Copy number loss	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 1460461	NC_000001.10:g.(?_155581953)_(156851434_?)del	ARHGEF2, BCAN +45 more	Deletion	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 1450274	NC_000001.10:g.(?_154141761)_(156851434_?)dup	ADAM15, ADAR +90 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	YY1AP1, CRCT1 +228 more	Duplication	MHC class II deficiency +3 more	GUncertain significance
Select item 1341236	GRCh37/hg19 1q23.1(chr1:156665257-156902706)x1	CRABP2, HDGF +9 more	Copy number loss	not provided	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 617477	LMNA-NTRK1 fusion	NES, NTRK1 +31 more	Fusion	Congenital fibrosarcoma	GPathogenic
Select item 565184	GRCh37/hg19 1q22-23.1(chr1:155999570-156844432)x3	BCAN, BGLAP +35 more	Copy number gain	not provided	GUncertain significance
Select item 565183	GRCh37/hg19 1q22-23.1(chr1:155636337-158024499)x1	ARHGEF11, ARHGEF2 +57 more	Copy number loss	not provided	GPathogenic
Select item 495229	Single allele	BGLAP, C1orf43 +90 more	Inversion	Pediatric metastatic thyroid tumour	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 58