"OMIM"[submitter] AND "C12orf57"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1202611	NR_023317.1(RNU7-1):n.28C>T	C12orf57, RNU7-1	Single nucleotide variant (non-coding transcript variant +1 more)	Aicardi-Goutieres syndrome 9 +1 more	GPathogenic/Likely pathogenic
Select item 1202612	NM_138425.3(C12orf57):c.-267_-260delCTGGCTTT	C12orf57, RNU7-1	Deletion (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 1202615	NM_138425.3(C12orf57):c.-272G>A	C12orf57, RNU7-1	Single nucleotide variant (non-coding transcript variant +1 more)	Aicardi-Goutieres syndrome 9	GPathogenic
Select item 1202614	NM_138425.3(C12orf57):c.-266T>G	C12orf57, RNU7-1	Single nucleotide variant (non-coding transcript variant +1 more)	Aicardi-Goutieres syndrome 9	GPathogenic
Select item 1202613	NM_138425.3(C12orf57):c.-256C>T	C12orf57, RNU7-1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign/Likely benign
Select item 41942	NM_138425.4(C12orf57):c.1A>G (p.Met1Val)	C12orf57 (M1V)	Single nucleotide variant (missense variant +4 more)	Temtamy syndrome +1 more	GPathogenic/Likely pathogenic
Select item 41943	NM_138425.4(C12orf57):c.152T>A (p.Leu51Gln)	C12orf57 (L51Q +2 more)	Single nucleotide variant (missense variant +1 more)	Temtamy syndrome	GPathogenic
Select item 155861	NM_138425.4(C12orf57):c.184C>T (p.Gln62Ter)	C12orf57 (Q62* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic