"PreventionGenetics, part of Exact Sciences"[submitter] AND "LARP7"[ge - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 777974	NM_016648.4(LARP7):c.62AAG[1] (p.Glu22del)	LARP7 (E22del)	Microsatellite (inframe_deletion +1 more)	not provided +1 more	GLikely benign
Select item 790788	NM_016648.4(LARP7):c.141G>T (p.Gly47=)	LARP7	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 452711	NM_016648.4(LARP7):c.203-3T>G	LARP7	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3056026	NM_016648.4(LARP7):c.315A>G (p.Glu105=)	LARP7	Single nucleotide variant (synonymous variant)	LARP7-related disorder	GLikely benign
Select item 716109	NM_016648.4(LARP7):c.734A>G (p.Asn245Ser)	MIR302CHG, LARP7 (N166S +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 2418154	NM_016648.4(LARP7):c.837G>C (p.Arg279=)	LARP7, MIR302CHG	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2629784	NM_016648.4(LARP7):c.925C>T (p.Arg309Ter)	LARP7, MIR302CHG (R230* +2 more)	Single nucleotide variant (nonsense)	LARP7-related disorder	GPathogenic
Select item 1943859	NM_016648.4(LARP7):c.1077_1078del (p.His359fs)	LARP7, MIR302CHG (H359fs +4 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3035355	NM_016648.4(LARP7):c.*4A>G	LARP7	Single nucleotide variant (3 prime UTR variant)	LARP7-related disorder	GLikely benign