"GeneDx"[submitter] AND "MRPS34"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 58600	GRCh38/hg38 16p13.3(chr16:1221651-2233773)x3	BAIAP3, BRICD5 +162 more	Copy number gain	See cases	GPathogenic
Select item 58602	GRCh38/hg38 16p13.3(chr16:1278821-1919148)x3	MAPK8IP3, MAPK8IP3-AS1 +88 more	Copy number gain	See cases	GPathogenic
Select item 152596	GRCh38/hg38 16p13.3(chr16:1754785-1816283)x1	EME2, HAGH +19 more	Copy number loss	See cases	GBenign
Select item 1221216	NM_023936.2(MRPS34):c.*63A>G	MRPS34	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 438633	NM_023936.2(MRPS34):c.322-10G>A	MRPS34	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic
Select item 1275184	NM_023936.2(MRPS34):c.174G>C (p.Val58=)	EME2, MRPS34	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 674177	NM_023936.2(MRPS34):c.97C>A (p.Leu33Ile)	EME2, MRPS34 (L33I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 438635	NM_023936.2(MRPS34):c.94C>T (p.Gln32Ter)	MRPS34, EME2 (Q32*)	Single nucleotide variant (nonsense)	Combined oxidative phosphorylation deficiency 32 +1 more	GPathogenic/Likely pathogenic