"Ambry Genetics"[submitter] AND "MRPL55"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3296060	NM_181463.3(MRPL55):c.320A>G (p.Glu107Gly)	MRPL55 (E107G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214287	NM_181463.3(MRPL55):c.319G>A (p.Glu107Lys)	MRPL55 (E107K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296061	NM_181463.3(MRPL55):c.287G>A (p.Arg96His)	MRPL55 (R132H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208423	NM_181463.3(MRPL55):c.241C>A (p.Leu81Met)	MRPL55 (L81M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260309	NM_181463.3(MRPL55):c.151C>T (p.Leu51Phe)	MRPL55 (L87F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398673	NM_181463.3(MRPL55):c.130C>T (p.His44Tyr)	MRPL55 (H80Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559686	NM_181463.3(MRPL55):c.127G>A (p.Val43Met)	MRPL55 (V43M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296058	NM_181463.3(MRPL55):c.64G>A (p.Ala22Thr)	MRPL55 (A58T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3208407	NM_181463.3(MRPL55):c.28C>T (p.Arg10Trp)	MRPL55 (R10W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296059	NM_181463.3(MRPL55):c.27-123C>G	MRPL55 (T40R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3296062	NM_181463.3(MRPL55):c.26+176G>A	MRPL55 (G18S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance