Related gene-specific medical variations for Gene (Select 11222) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362012	NM_007208.4(MRPL3):c.851A>G (p.Tyr284Cys)	MRPL3 (Y284C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3207355	NM_007208.4(MRPL3):c.52C>T (p.Leu18Phe)	LOC105374114, MRPL3 (L18F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067933	NM_007208.4(MRPL3):c.93-2A>C	MRPL3	Single nucleotide variant (splice acceptor variant)	Combined oxidative phosphorylation defect type 9	GLikely pathogenic
Select item 2970013	NM_007208.4(MRPL3):c.92+20T>C	LOC105374114, MRPL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2582496	NM_007208.4(MRPL3):c.793T>C (p.Tyr265His)	MRPL3 (Y265H)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 9	GUncertain significance
Select item 2220031	NM_007208.4(MRPL3):c.61G>C (p.Gly21Arg)	LOC105374114, MRPL3 (G21R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1676388	NM_007208.4(MRPL3):c.918A>G (p.Ala306=)	MRPL3	Single nucleotide variant	not provided	GLikely benign
Select item 1651813	NM_007208.4(MRPL3):c.45G>A (p.Leu15=)	LOC105374114, MRPL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1203433	NM_007208.4(MRPL3):c.-126_-125insCGGCCGT	LOC105374114, MRPL3	Insertion (5 prime UTR variant)	not provided	GLikely benign
Select item 814480	GRCh37/hg19 3q22.1(chr3:131136629-131222963)x1	MRPL3	Copy number loss	not provided	GUncertain significance
Select item 689411	NM_007208.4(MRPL3):c.49del (p.Arg17fs)	LOC105374114, MRPL3 (R17fs)	Deletion (frameshift variant)	Combined oxidative phosphorylation defect type 9	GPathogenic