"Ambry Genetics"[submitter] AND "MRPL1"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3206538	NM_020236.4(MRPL1):c.10G>A (p.Ala4Thr)	LOC129992725, MRPL1 (A4T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509130	NM_020236.4(MRPL1):c.40C>T (p.His14Tyr)	MRPL1 (H14Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300324	NM_020236.4(MRPL1):c.113T>C (p.Val38Ala)	MRPL1 (V38A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355224	NM_020236.4(MRPL1):c.133G>C (p.Ala45Pro)	MRPL1 (A45P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206550	NM_020236.4(MRPL1):c.204A>C (p.Glu68Asp)	MRPL1 (E68D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3206552	NM_020236.4(MRPL1):c.214A>G (p.Ile72Val)	MRPL1 (I72V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206556	NM_020236.4(MRPL1):c.308T>C (p.Val103Ala)	MRPL1 (V103A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327647	NM_020236.4(MRPL1):c.349C>A (p.Pro117Thr)	MRPL1 (P117T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374407	NM_020236.4(MRPL1):c.509C>T (p.Ala170Val)	MRPL1 (A170V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206573	NM_020236.4(MRPL1):c.626G>A (p.Arg209Gln)	MRPL1 (R209Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206580	NM_020236.4(MRPL1):c.655C>G (p.Pro219Ala)	MRPL1 (P219A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224349	NM_020236.4(MRPL1):c.676A>G (p.Ile226Val)	MRPL1 (I226V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206587	NM_020236.4(MRPL1):c.782A>G (p.Asp261Gly)	MRPL1 (D261G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617620	NM_020236.4(MRPL1):c.856T>A (p.Leu286Met)	MRPL1 (L286M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206595	NM_020236.4(MRPL1):c.886C>T (p.Arg296Cys)	MRPL1 (R296C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297006	NM_020236.4(MRPL1):c.920T>G (p.Ile307Ser)	MRPL1 (I307S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance