"Baylor Genetics"[submitter] AND "C12orf57"[gene] - ClinVar

	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	C12orf57, RNU7-1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
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 242885	NM_138425.4(C12orf57):c.53-2A>G	C12orf57	Single nucleotide variant (5 prime UTR variant +2 more)	Temtamy syndrome	GPathogenic
Select item 1033080	NM_138425.4(C12orf57):c.284T>A (p.Ile95Asn)	C12orf57 (I95N +3 more)	Single nucleotide variant (missense variant +1 more)	Temtamy syndrome	GUncertain significance
Select item 625811	GRCh37/hg19 12p13.33-13.31(chr12:189216-8185497)	ACRBP, ACSM4 +102 more	Copy number gain	not provided	GPathogenic
Select item 625810	GRCh37/hg19 12p13.33-13.31(chr12:237588-8278292)	ACRBP, ACSM4 +105 more	Copy number gain	not provided	GPathogenic
Select item 625809	GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420)	A2M, A2ML1 +193 more	Copy number gain	not provided	GPathogenic

ClinVar