METTL3[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57743	GRCh38/hg38 14q11.2(chr14:19755249-22741281)x1	ABHD4, ANG +312 more	Copy number loss	See cases	GPathogenic
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57246	GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3	ABHD4, ACIN1 +399 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	LOC124958010, LOC124958011 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 57746	GRCh38/hg38 14q11.2(chr14:20475357-21613255)x1	ANG, ARHGEF40 +108 more	Copy number loss	See cases	GPathogenic
Select item 57747	GRCh38/hg38 14q11.2(chr14:20908863-21576473)x1	ARHGEF40, CHD8 +48 more	Copy number loss	See cases	GPathogenic
Select item 152232	GRCh38/hg38 14q11.2(chr14:21010790-22951814)x3	ABHD4, ARHGEF40 +242 more	Copy number gain	See cases	GUncertain significance
Select item 57749	GRCh38/hg38 14q11.2(chr14:21408814-21517190)x1	CHD8, LOC121838586 +9 more	Copy number loss	See cases	GPathogenic
Select item 2259067	NM_019852.5(METTL3):c.1685T>C (p.Val562Ala)	METTL3, TOX4 (V562A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3294467	NM_019852.5(METTL3):c.1082G>C (p.Gly361Ala)	METTL3 (G361A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125589	NM_019852.5(METTL3):c.1057C>G (p.Leu353Val)	METTL3 (L353V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465340	NM_019852.5(METTL3):c.1043C>T (p.Thr348Met)	METTL3 (T348M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125594	NM_019852.5(METTL3):c.875G>A (p.Arg292Gln)	METTL3 (R292Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125592	NM_019852.5(METTL3):c.646C>A (p.His216Asn)	METTL3 (H216N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554299	NM_019852.5(METTL3):c.572C>T (p.Ala191Val)	METTL3 (A191V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323032	NM_019852.5(METTL3):c.536G>A (p.Arg179His)	METTL3 (R179H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125591	NM_019852.5(METTL3):c.217G>C (p.Ala73Pro)	METTL3 (A73P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294466	NM_019852.5(METTL3):c.215T>C (p.Leu72Ser)	METTL3 (L72S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385966	NM_019852.5(METTL3):c.213A>C (p.Glu71Asp)	METTL3 (E71D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258239	NM_019852.5(METTL3):c.161C>A (p.Thr54Asn)	METTL3 (T54N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253413	NM_019852.5(METTL3):c.140G>A (p.Arg47His)	METTL3 (R47H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125590	NM_019852.5(METTL3):c.122C>T (p.Ala41Val)	METTL3 (A41V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294465	NM_019852.5(METTL3):c.107G>A (p.Arg36Gln)	METTL3 (R36Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125593	NM_019852.5(METTL3):c.82C>G (p.Gln28Glu)	METTL3 (Q28E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376068	NM_019852.5(METTL3):c.50C>T (p.Ser17Phe)	METTL3 (S17F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244070	NC_000014.8:g.(?_20915399)_(22005055_?)dup	ANG, APEX1 +38 more	Duplication	not provided	GUncertain significance
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2580329	GRCh37/hg19 14q11.2(chr14:21851693-22089506)x1	CHD8, METTL3 +5 more	Copy number loss	Intellectual developmental disorder with autism and macrocephaly	GPathogenic
Select item 2426543	NC_000014.8:g.(?_21671278)_(22005055_?)dup	CHD8, HNRNPC +6 more	Duplication	Leber congenital amaurosis 6 +1 more	GUncertain significance
Select item 2422759	NC_000014.8:g.(?_20915399)_(22005055_?)del	METTL3, ANG +38 more	Deletion	Purine-nucleoside phosphorylase deficiency	GPathogenic
Select item 1808729	GRCh37/hg19 14q11.2(chr14:20690196-23114522)x1	ABHD4, ANG +52 more	Copy number loss	not provided	GPathogenic
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 1527804	GRCh37/hg19 14q11.2(chr14:21908729-22011463)	METTL3, RAB2B +2 more	Copy number loss	not specified	GUncertain significance
Select item 1326312	GRCh37/hg19 14q11.2(chr14:20925965-23649548)x3	PRMT5, PSMB11 +60 more	Copy number gain	14q11.2 microduplication	GLikely pathogenic
Select item 1075073	NC_000014.8:g.(?_21756136)_(22005055_?)del	METTL3, CHD8 +5 more	Deletion	Cone-rod dystrophy 13 +1 more	GPathogenic
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided
Select item 815632	GRCh37/hg19 14q11.2(chr14:21725624-22003017)x1	HNRNPC, RAB2B +6 more	Copy number loss	not provided	GPathogenic
Select item 815631	GRCh37/hg19 14q11.2(chr14:21589998-21999445)x1	CHD8, SALL2 +7 more	Copy number loss	not provided	GPathogenic
Select item 815630	GRCh37/hg19 14q11.2(chr14:21159605-22252320)x4	TOX4, ARHGEF40 +29 more	Copy number gain	not provided	GLikely pathogenic
Select item 815629	GRCh37/hg19 14q11.2(chr14:21143933-23297667)x1	OR10G3, OXA1L +33 more	Copy number loss	not provided	GPathogenic
Select item 815628	GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3	ABHD4, ACIN1 +187 more	Copy number gain	not provided	GPathogenic
Select item 689314	GRCh37/hg19 14q11.2(chr14:21678344-22299981)x3	CHD8, HNRNPC +10 more	Copy number gain	not provided	GUncertain significance
Select item 666446	GRCh37/hg19 14q11.2(chr14:21717093-24027220)x3	SLC22A17, SLC7A7 +47 more	Copy number gain	not provided	GLikely pathogenic
Select item 625814	GRCh37/hg19 14q11.2-12(chr14:19100682-28730087)	ARHGEF40, BCL2L2 +152 more	Copy number gain	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 394361	GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3	OR5AU1, OR6S1 +164 more	Copy number gain	See cases	GPathogenic
Select item 253659	GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3	ABHD4, ACIN1 +149 more	Copy number gain	See cases	GPathogenic

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Items: 54