Related gene-specific medical variations for Gene (Select 124512) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3360367	NM_001080510.5(METTL23):c.442T>C (p.Trp148Arg)	METTL23 (W144R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2582828	NM_001080510.5(METTL23):c.322+1del	METTL23	Deletion (splice donor variant)	Intellectual disability, autosomal recessive 44	GPathogenic
Select item 2513279	NM_015167.3(JMJD6):c.44G>C (p.Ser15Thr)	JMJD6, METTL23 (S15T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281303	NM_015167.3(JMJD6):c.101G>A (p.Ser34Asn)	JMJD6, METTL23 (S34N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1324716	NM_001080510.5(METTL23):c.126del (p.Lys42fs)	METTL23 (K38fs +1 more)	Deletion (frameshift variant +1 more)	Intellectual disability, autosomal recessive 44	GLikely pathogenic
Select item 1184977	NC_000017.11:g.76732979_76732983del	METTL23	Deletion	not provided	GLikely pathogenic

ClinVar