"MRPS34-related condition"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2158241	NM_023936.2(MRPS34):c.513G>A (p.Arg171=)	MRPS34	Single nucleotide variant (synonymous variant)	MRPS34-related condition +1 more	GLikely benign
Select item 1532700	NM_023936.2(MRPS34):c.498C>T (p.Tyr166=)	MRPS34	Single nucleotide variant (synonymous variant)	MRPS34-related condition +1 more	GBenign/Likely benign
Select item 3046302	NM_023936.2(MRPS34):c.481C>T (p.Leu161=)	MRPS34	Single nucleotide variant (synonymous variant)	MRPS34-related condition	GLikely benign
Select item 2072200	NM_023936.2(MRPS34):c.447C>T (p.Ala149=)	MRPS34	Single nucleotide variant (synonymous variant)	MRPS34-related condition +1 more	GBenign/Likely benign
Select item 1577985	NM_023936.2(MRPS34):c.436G>C (p.Glu146Gln)	MRPS34 (E146Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 3051812	NM_023936.2(MRPS34):c.365-26T>G	MRPS34	Single nucleotide variant (intron variant)	MRPS34-related condition	GLikely benign
Select item 1577471	NM_023936.2(MRPS34):c.320_321+2dup	LOC130058183, MRPS34	Duplication (splice donor variant)	not provided +1 more	GBenign
Select item 2629497	NM_023936.2(MRPS34):c.320_321insAGTA (p.Asn108fs)	LOC130058183, MRPS34 (N108fs)	Insertion (frameshift variant)	MRPS34-related condition	GLikely pathogenic
Select item 3061716	NM_023936.2(MRPS34):c.291C>T (p.Leu97=)	EME2, LOC130058183 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	MRPS34-related condition	GLikely benign
Select item 1275184	NM_023936.2(MRPS34):c.174G>C (p.Val58=)	EME2, MRPS34	Single nucleotide variant (5 prime UTR variant +1 more)	MRPS34-related condition +1 more	GBenign
Select item 2042832	NM_023936.2(MRPS34):c.121T>C (p.Leu41=)	EME2, MRPS34	Single nucleotide variant (5 prime UTR variant +1 more)	MRPS34-related condition +1 more	GBenign/Likely benign
Select item 674177	NM_023936.2(MRPS34):c.97C>A (p.Leu33Ile)	EME2, MRPS34 (L33I)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 2726544	NM_023936.2(MRPS34):c.15G>A (p.Lys5=)	EME2, LOC130058184 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 1930798	NM_023936.2(MRPS34):c.12G>A (p.Lys4=)	EME2, LOC130058184 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	MRPS34-related condition +1 more	GLikely benign