ClinVar for MedGen (Select 863182) - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3024257	NM_001080510.5(METTL23):c.204_207del (p.Met68fs)	METTL23 (M1fs +2 more)	Deletion (frameshift variant +1 more)	Intellectual disability, autosomal recessive 44	GLikely pathogenic
Select item 2582828	NM_001080510.5(METTL23):c.322+1del	METTL23	Deletion (splice donor variant)	Intellectual disability, autosomal recessive 44	GPathogenic
Select item 1805419	NM_001080510.5(METTL23):c.409del (p.Ala137fs)	METTL23 (A133fs +2 more)	Deletion (frameshift variant +1 more)	Intellectual disability, autosomal recessive 44	GLikely pathogenic
Select item 1805314	NM_001080510.5(METTL23):c.322+2dup	METTL23	Duplication (splice donor variant)	Intellectual disability, autosomal recessive 44	GPathogenic
Select item 1712311	NM_001080510.5(METTL23):c.266T>A (p.Leu89Gln)	METTL23 (L22Q +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 44	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 1065469	NM_001080510.5(METTL23):c.407+6T>C	METTL23	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 44	GUncertain significance
Select item 1032600	NM_001080510.5(METTL23):c.496G>T (p.Asp166Tyr)	METTL23 (D166Y +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 44	GUncertain significance
Select item 1032599	NM_001080510.5(METTL23):c.417G>T (p.Trp139Cys)	METTL23 (W135C +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 44	GUncertain significance
Select item 1032598	NM_001080510.5(METTL23):c.319G>A (p.Glu107Lys)	METTL23 (E103K +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 44	GUncertain significance
Select item 1031798	NM_001080510.5(METTL23):c.250A>G (p.Ile84Val)	METTL23 (I80V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1031045	NM_001080510.5(METTL23):c.521G>T (p.Gly174Val)	METTL23 (G107V +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 44	GUncertain significance
Select item 985456	NM_001080510.5(METTL23):c.174_177del (p.Cys58fs)	METTL23 (C54fs +1 more)	Deletion (frameshift variant +1 more)	Intellectual disability, autosomal recessive 44 +2 more	GPathogenic/Likely pathogenic
Select item 812707	NM_001080510.5(METTL23):c.178dup (p.Glu60fs)	METTL23 (E60fs +1 more)	Duplication (frameshift variant +1 more)	Intellectual disability, autosomal recessive 44	GPathogenic
Select item 520872	NM_001080510.5(METTL23):c.20C>T (p.Ala7Val)	METTL23 (A7V)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal recessive 44 +2 more	GUncertain significance
Select item 520855	NM_001080510.5(METTL23):c.275CAC[1] (p.Pro93del)	METTL23 (P93del +2 more)	Microsatellite (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 435859	NM_001080510.5(METTL23):c.271C>G (p.Leu91Val)	METTL23 (L91V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 144025	NM_001080510.5(METTL23):c.397C>T (p.Gln133Ter)	METTL23 (Q133* +2 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, autosomal recessive 44	GPathogenic
Select item 144024	NM_001080510.5(METTL23):c.282_286del (p.Gln94fs)	METTL23 (Q27fs +2 more)	Deletion (frameshift variant)	Intellectual disability, autosomal recessive 44	GPathogenic
Select item 144023	NM_001080510.5(METTL23):c.169_172del (p.His57fs)	METTL23 (H53fs +1 more)	Deletion (frameshift variant +1 more)	Intellectual disability, autosomal recessive 44 +3 more	GPathogenic/Likely pathogenic

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Items: 20