"PreventionGenetics, part of Exact Sciences"[submitter] AND "LOC129930 - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3029053	NM_024640.4(YRDC):c.294C>T (p.Ser98=)	LOC129930167, YRDC +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	YRDC-related disorder	GLikely benign
Select item 3031282	NM_024640.4(YRDC):c.246G>A (p.Val82=)	C1orf122, LOC129930167 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	YRDC-related disorder	GLikely benign
Select item 3055198	NM_024640.4(YRDC):c.210G>C (p.Leu70=)	C1orf122, LOC129930167 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	YRDC-related disorder	GLikely benign
Select item 3029283	NM_024640.4(YRDC):c.177G>A (p.Ala59=)	C1orf122, LOC129930167 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	YRDC-related disorder	GLikely benign
Select item 3036401	NM_024640.4(YRDC):c.129C>G (p.Pro43=)	C1orf122, LOC129930167 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	YRDC-related disorder	GLikely benign

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