"Baylor Genetics"[submitter] AND "RNU7-1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1810412	NR_023317.1(RNU7-1):n.23T>G	C12orf57, RNU7-1	Single nucleotide variant (non-coding transcript variant +1 more)	Aicardi-Goutieres syndrome 9	GUncertain significance
Select item 1202611	NR_023317.1(RNU7-1):n.28C>T	RNU7-1, C12orf57	Single nucleotide variant (non-coding transcript variant +1 more)	Aicardi-Goutieres syndrome 9 +1 more	GPathogenic/Likely pathogenic