"Ambry Genetics"[submitter] AND "LOC130009614"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2608745	NM_005830.4(MRPS31):c.50A>C (p.His17Pro)	LOC130009614, MRPS31 (H17P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606433	NM_005830.4(MRPS31):c.46C>T (p.Arg16Cys)	LOC130009614, MRPS31 (R16C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209372	NM_005830.4(MRPS31):c.38C>T (p.Pro13Leu)	LOC130009614, MRPS31 (P13L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3209362	NM_005830.4(MRPS31):c.29C>T (p.Pro10Leu)	LOC130009614, MRPS31 (P10L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209356	NM_005830.4(MRPS31):c.28C>T (p.Pro10Ser)	LOC130009614, MRPS31 (P10S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224545	NM_005830.4(MRPS31):c.4T>G (p.Phe2Val)	LOC130009614, MRPS31 (F2V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar