"Ambry Genetics"[submitter] AND "MRPS14"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2357339	NM_022100.3(MRPS14):c.308G>A (p.Arg103His)	MRPS14 (R103H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2540088	NM_022100.3(MRPS14):c.292C>T (p.Arg98Cys)	MRPS14 (R98C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2619097	NM_022100.3(MRPS14):c.185T>C (p.Ile62Thr)	MRPS14 (I62T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2233697	NM_022100.3(MRPS14):c.178A>G (p.Asn60Asp)	MRPS14 (N60D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2239537	NM_022100.3(MRPS14):c.86A>G (p.Tyr29Cys)	MRPS14 (Y29C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2300325	NM_022100.3(MRPS14):c.20G>T (p.Gly7Val)	LOC129931958, MRPS14 (G7V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

ClinVar