Related gene-specific medical variations for Gene (Select 51603) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3125447	NM_015935.5(METTL13):c.1798A>G (p.Lys600Glu)	LOC126805917, METTL13 (K444E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058980	NM_015935.5(METTL13):c.1707C>T (p.Tyr569=)	LOC126805917, METTL13	Single nucleotide variant (synonymous variant)	METTL13-related disorder	GBenign
Select item 3043115	NM_015935.5(METTL13):c.1753A>C (p.Met585Leu)	LOC126805917, METTL13 (M429L +2 more)	Single nucleotide variant (missense variant)	METTL13-related disorder	GBenign
Select item 3042670	NM_015935.5(METTL13):c.1785A>G (p.Gln595=)	LOC126805917, METTL13	Single nucleotide variant (synonymous variant)	METTL13-related disorder	GBenign
Select item 2380639	NM_015935.5(METTL13):c.1696C>T (p.Arg566Trp)	LOC126805917, METTL13 (R480W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342499	NM_015935.5(METTL13):c.1820C>A (p.Pro607His)	LOC126805917, METTL13 (P607H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar