"Ambry Genetics"[submitter] AND "MRPL18"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3295972	NM_014161.5(MRPL18):c.28T>G (p.Leu10Val)	LOC129997607, MRPL18 (L10V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270469	NM_014161.5(MRPL18):c.152G>T (p.Arg51Leu)	MRPL18 (R51L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462675	NM_014161.5(MRPL18):c.211G>A (p.Val71Met)	MRPL18 (V71M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368026	NM_014161.5(MRPL18):c.224G>T (p.Arg75Leu)	MRPL18 (R75L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295973	NM_014161.5(MRPL18):c.235C>T (p.His79Tyr)	MRPL18 (H79Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259422	NM_014161.5(MRPL18):c.322C>T (p.Arg108Cys)	MRPL18 (H108Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3295971	NM_014161.5(MRPL18):c.332C>G (p.Ala111Gly)	MRPL18 (A111G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2290278	NM_014161.5(MRPL18):c.442C>G (p.Pro148Ala)	MRPL18 (P148A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3206982	NM_014161.5(MRPL18):c.476A>G (p.Lys159Arg)	MRPL18 (K159R)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 3206985	NM_014161.5(MRPL18):c.511G>T (p.Val171Phe)	MRPL18 (V171F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544813	NM_014161.5(MRPL18):c.518G>A (p.Arg173Gln)	MRPL18 (R173Q)	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign