ClinVar for MedGen (Select 1684805) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065390	NM_014168.4(METTL5):c.225-1G>T	METTL5	Single nucleotide variant (splice acceptor variant)	Intellectual developmental disorder, autosomal recessive 72	GLikely pathogenic
Select item 3064180	NM_014168.4(METTL5):c.224+1G>A	METTL5	Single nucleotide variant (splice donor variant)	Intellectual developmental disorder, autosomal recessive 72	GPathogenic
Select item 1804912	NM_014168.4(METTL5):c.406+1_406+2insATACAAATTC	METTL5	Insertion (splice donor variant)	Intellectual developmental disorder, autosomal recessive 72	GLikely pathogenic
Select item 1685946	NM_014168.4(METTL5):c.591+2T>G	METTL5	Single nucleotide variant (splice donor variant)	Intellectual developmental disorder, autosomal recessive 72	GPathogenic
Select item 1298336	NM_014168.4(METTL5):c.43C>T (p.Gln15Ter)	METTL5 (Q15*)	Single nucleotide variant (nonsense)	Intellectual developmental disorder, autosomal recessive 72	GUncertain significance
Select item 1236168	NM_014168.4(METTL5):c.406+5G>A	METTL5	Single nucleotide variant (intron variant)	Intellectual developmental disorder, autosomal recessive 72	GUncertain significance
Select item 983495	NM_014168.4(METTL5):c.362A>G (p.Asp121Gly)	METTL5 (D121G)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal recessive 72 +1 more	GConflicting classifications of pathogenicity
Select item 917596	NM_014168.4(METTL5):c.541+1G>C	METTL5	Single nucleotide variant (splice donor variant)	Intellectual developmental disorder, autosomal recessive 72	GLikely pathogenic
Select item 689379	NM_014168.4(METTL5):c.344_345del (p.Arg115fs)	METTL5 (R115fs)	Deletion (frameshift variant)	Intellectual disability, severe	GPathogenic
Select item 689363	NM_014168.4(METTL5):c.571_572del (p.Lys191fs)	METTL5 (K191fs)	Deletion (frameshift variant)	Intellectual disability, severe +1 more	GPathogenic/Likely pathogenic