Related gene-specific medical variations for Gene (Select 55732) - ClinVar

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Links from Gene

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3294424	NM_033418.4(METTL18):c.295G>A (p.Ala99Thr)	FIRRM, METTL18 (A99T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125489	NM_033418.4(METTL18):c.929T>G (p.Leu310Arg)	FIRRM, METTL18 (L310R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125488	NM_033418.4(METTL18):c.927C>A (p.Phe309Leu)	FIRRM, METTL18 (F309L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125486	NM_033418.4(METTL18):c.802G>A (p.Gly268Ser)	FIRRM, METTL18 (G268S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125485	NM_033418.4(METTL18):c.469C>G (p.Leu157Val)	FIRRM, METTL18 (L157V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125484	NM_033418.4(METTL18):c.313A>G (p.Met105Val)	FIRRM, METTL18 (M105V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125483	NM_033418.4(METTL18):c.275G>C (p.Gly92Ala)	FIRRM, METTL18 (G92A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125482	NM_033418.4(METTL18):c.129G>C (p.Glu43Asp)	FIRRM, METTL18 (E43D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2639542	NM_001320047.2(FIRRM):c.2249G>A (p.Gly750Glu)	FIRRM, SCYL3 (G427E +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2603204	NM_033418.4(METTL18):c.163T>G (p.Leu55Val)	FIRRM, METTL18 (L55V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590502	NM_033418.4(METTL18):c.940A>C (p.Ser314Arg)	FIRRM, METTL18 (S314R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539334	NM_033418.4(METTL18):c.884C>G (p.Thr295Ser)	FIRRM, METTL18 (T295S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539089	NM_033418.4(METTL18):c.167C>G (p.Pro56Arg)	FIRRM, METTL18 (P56R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2497733	NM_001320047.2(FIRRM):c.386A>G (p.Tyr129Cys)	FIRRM (I175V +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2486138	NM_033418.4(METTL18):c.80T>A (p.Leu27Gln)	FIRRM, METTL18 (L27Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402475	NM_033418.4(METTL18):c.1000G>A (p.Val334Ile)	FIRRM, METTL18 (V334I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2356294	NM_033418.4(METTL18):c.853G>A (p.Val285Ile)	FIRRM, METTL18 (V285I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349920	NM_033418.4(METTL18):c.109G>A (p.Glu37Lys)	FIRRM, METTL18 (E37K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344017	NM_033418.4(METTL18):c.785A>C (p.Lys262Thr)	FIRRM, METTL18 (K262T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343354	NM_033418.4(METTL18):c.224C>T (p.Thr75Ile)	FIRRM, METTL18 (T75I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302885	NM_033418.4(METTL18):c.753A>T (p.Arg251Ser)	FIRRM, METTL18 (R251S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264625	NM_033418.4(METTL18):c.997G>T (p.Gly333Cys)	FIRRM, METTL18 (G333C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227087	NM_033418.4(METTL18):c.661A>G (p.Met221Val)	FIRRM, METTL18 (M221V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789951	NM_033418.4(METTL18):c.657C>T (p.Asn219=)	METTL18, FIRRM	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 711777	NM_001320047.2(FIRRM):c.2342A>C (p.Glu781Ala)	FIRRM, SCYL3 (E458A +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign

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Links from Gene

Items: 25