"Ambry Genetics"[submitter] AND "LOC126861882"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2549237	NM_022734.3(METTL17):c.1055C>T (p.Ala352Val)	LOC101929718, LOC126861882 +1 more (A352V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2235261	NM_022734.3(METTL17):c.1091C>G (p.Pro364Arg)	LOC101929718, LOC126861882 +1 more (P364R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399763	NM_022734.3(METTL17):c.1111A>G (p.Met371Val)	LOC101929718, LOC126861882 +1 more (M371V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125473	NM_022734.3(METTL17):c.1127G>A (p.Arg376Gln)	LOC101929718, LOC126861882 +1 more (R376Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282740	NM_022734.3(METTL17):c.1129G>A (p.Gly377Arg)	LOC101929718, LOC126861882 +1 more (G377R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401002	NM_022734.3(METTL17):c.1130G>A (p.Gly377Glu)	LOC101929718, LOC126861882 +1 more (G377E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125474	NM_022734.3(METTL17):c.1150C>T (p.Arg384Cys)	LOC101929718, LOC126861882 +1 more (R384C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352862	NM_022734.3(METTL17):c.1151G>A (p.Arg384His)	LOC101929718, LOC126861882 +1 more (R384H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125475	NM_022734.3(METTL17):c.1190G>A (p.Arg397His)	LOC101929718, LOC126861882 +1 more (R397H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264778	NM_022734.3(METTL17):c.1266-27A>G	LOC101929718, LOC126861882 +1 more (S438G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125476	NM_022734.3(METTL17):c.1346C>T (p.Thr449Met)	LOC101929718, LOC126861882 +1 more (T449M)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GLikely benign
Select item 2258921	NM_022734.3(METTL17):c.1354G>T (p.Asp452Tyr)	LOC101929718, LOC126861882 +1 more (G476V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance