METTL6[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936198, LOC129936199 +647 more	Copy number gain	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 1703229	Single allele	HDAC11, LOC126806611 +244 more	Deletion	3p- syndrome	GPathogenic
Select item 155700	GRCh38/hg38 3p25.1-24.3(chr3:14360747-21656134)x4	LOC132088880, LOC132088882 +214 more	Copy number gain	See cases	GPathogenic
Select item 155336	GRCh38/hg38 3p25.1-24.3(chr3:15304910-16372771)x3	ANKRD28, BTD +43 more	Copy number gain	See cases	GLikely benign
Select item 3125608	NM_152396.4(METTL6):c.817C>T (p.Pro273Ser)	METTL6 (P228S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2230446	NM_152396.4(METTL6):c.796T>C (p.Phe266Leu)	METTL6 (F266L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333663	NM_152396.4(METTL6):c.707A>G (p.Tyr236Cys)	METTL6 (Y191C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405558	NM_152396.4(METTL6):c.608G>C (p.Ser203Thr)	METTL6 (S203T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2398488	NM_152396.4(METTL6):c.563G>A (p.Arg188His)	METTL6 (R188H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2315029	NM_152396.4(METTL6):c.508C>T (p.Leu170Phe)	METTL6 (L125F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125607	NM_152396.4(METTL6):c.457G>A (p.Val153Ile)	METTL6 (V153I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294472	NM_152396.4(METTL6):c.443C>A (p.Pro148Gln)	METTL6 (P103Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516211	NM_152396.4(METTL6):c.392A>T (p.Lys131Met)	METTL6 (K86M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466712	NM_152396.4(METTL6):c.389G>A (p.Cys130Tyr)	METTL6 (C85Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266011	NM_152396.4(METTL6):c.230A>G (p.Glu77Gly)	METTL6 (E77G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315715	NM_152396.4(METTL6):c.136G>C (p.Asp46His)	METTL6 (D46H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607841	NM_152396.4(METTL6):c.121G>C (p.Ala41Pro)	METTL6 (A41P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653596	NM_152396.4(METTL6):c.93T>C (p.Asp31=)	METTL6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2227518	NM_152396.4(METTL6):c.75C>A (p.Asp25Glu)	METTL6 (D25E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345528	NM_152396.4(METTL6):c.52G>A (p.Glu18Lys)	METTL6 (E18K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
Select item 1708466	GRCh37/hg19 3p25.1-24.2(chr3:13836340-25357427)x3	ANKRD28, BTD +41 more	Copy number gain	See cases	GPathogenic
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1526967	GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)	ANKRD28, ARL8B +112 more	Copy number gain	not specified	GPathogenic
Select item 1340851	GRCh37/hg19 3p25.1-24.3(chr3:15085863-16402392)x3	ANKRD28, BTD +13 more	Copy number gain	not provided	GUncertain significance
Select item 562744	GRCh37/hg19 3p26.1-24.3(chr3:5173870-16760262)x3	ANKRD28, ARL8B +84 more	Copy number gain	not provided	GPathogenic
Select item 562726	GRCh37/hg19 3p26.3-24.3(chr3:1897972-19519085)x3	ANKRD28, ARL8B +98 more	Copy number gain	not provided	GPathogenic
Select item 443469	GRCh37/hg19 3p25.1-24.3(chr3:13720222-17808236)x1	ANKRD28, BTD +27 more	Copy number loss	See cases	GLikely pathogenic
Select item 443464	GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3	ANKRD28, APRG1 +155 more	Copy number gain	See cases	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 441705	GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3	TRIM71, TRNT1 +145 more	Copy number gain	See cases	GPathogenic

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Items: 39