"Revvity Omics, Revvity"[submitter] AND "LARP7"[gene] - ClinVar - NCBI

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Items: 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1323230	NM_016648.4(LARP7):c.297_303+2del	LARP7	Deletion (splice donor variant)	Microcephalic primordial dwarfism, Alazami type	GConflicting classifications of pathogenicity
Select item 2433410	NM_016648.4(LARP7):c.388-40G>A	LARP7, MIR302CHG	Single nucleotide variant (non-coding transcript variant +1 more)	Microcephalic primordial dwarfism, Alazami type	GUncertain significance
Select item 1324657	NM_016648.4(LARP7):c.422_429del (p.Ile141fs)	LARP7, MIR302CHG (I141fs +1 more)	Deletion (non-coding transcript variant +1 more)	Microcephalic primordial dwarfism, Alazami type	GLikely pathogenic
Select item 377284	NM_016648.4(LARP7):c.552+1G>T	LARP7, MIR302CHG	Single nucleotide variant (non-coding transcript variant +1 more)	Microcephalic primordial dwarfism, Alazami type +1 more	GConflicting classifications of pathogenicity
Select item 1324655	NM_016648.4(LARP7):c.887_888insTCTC (p.Lys296fs)	LARP7, MIR302CHG (K217fs +2 more)	Insertion (non-coding transcript variant +1 more)	Microcephalic primordial dwarfism, Alazami type	GLikely pathogenic
Select item 666362	NM_016648.4(LARP7):c.1091_1094del (p.Lys364fs)	LARP7, MIR302CHG (K363fs +4 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2689363	NM_016648.4(LARP7):c.1427C>T (p.Ala476Val)	LARP7 (A397V +4 more)	Single nucleotide variant (missense variant)	Microcephalic primordial dwarfism, Alazami type	GUncertain significance