"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "RNU7-1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3380084	NR_023317.1(RNU7-1):n.1C>T	C12orf57, RNU7-1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3380085	NR_023317.1(RNU7-1):n.12C>T	C12orf57, RNU7-1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	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
Select item 3380087	NR_023317.1(RNU7-1):n.44C>G	C12orf57, RNU7-1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3380086	NR_023317.1(RNU7-1):n.44_45delinsTA	C12orf57, RNU7-1	Indel (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1202613	NR_023317.1(RNU7-1):n.51C>T	C12orf57, RNU7-1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 3380088	NR_023317.1(RNU7-1):n.58G>A	C12orf57, RNU7-1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance

ClinVar