"Ambry Genetics"[submitter] AND "MRPL49"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3208270	NM_004927.4(MRPL49):c.71G>A (p.Arg24Gln)	LOC130005993, MRPL49 (R24Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486859	NM_004927.4(MRPL49):c.89A>G (p.Gln30Arg)	MRPL49 (Q30R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208232	NM_004927.4(MRPL49):c.266C>G (p.Ser89Cys)	MRPL49 (S89C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208239	NM_004927.4(MRPL49):c.268C>T (p.Arg90Trp)	MRPL49 (R90W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533161	NM_004927.4(MRPL49):c.273G>C (p.Met91Ile)	MRPL49 (M91I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208255	NM_004927.4(MRPL49):c.280A>G (p.Ile94Val)	MRPL49 (I94V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2282571	NM_004927.4(MRPL49):c.292A>G (p.Lys98Glu)	MRPL49 (K98E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269610	NM_004927.4(MRPL49):c.298A>G (p.Ile100Val)	MRPL49 (I100V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524961	NM_004927.4(MRPL49):c.302C>T (p.Thr101Met)	MRPL49 (T101M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance