C5231433[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1188976	NM_022662.4(ANAPC1):c.*2C>T	ANAPC1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 767814	NM_022662.4(ANAPC1):c.5373C>A (p.Ile1791=)	ANAPC1	Single nucleotide variant (synonymous variant)	Rothmund-Thomson syndrome type 1 +1 more	GBenign
Select item 769572	NM_022662.4(ANAPC1):c.4341G>A (p.Pro1447=)	ANAPC1	Single nucleotide variant (synonymous variant)	Rothmund-Thomson syndrome type 1 +1 more	GBenign
Select item 778261	NM_022662.4(ANAPC1):c.2513C>T (p.Thr838Met)	ANAPC1 (T838M)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 1 +1 more	GBenign
Select item 1192325	NM_022662.4(ANAPC1):c.1791G>A (p.Leu597=)	ANAPC1	Single nucleotide variant (synonymous variant)	Rothmund-Thomson syndrome type 1 +1 more	GBenign
Select item 1192326	NM_022662.4(ANAPC1):c.1651-23A>G	ANAPC1	Single nucleotide variant (intron variant)	Rothmund-Thomson syndrome type 1 +1 more	GBenign
Select item 1192386	NM_022662.4(ANAPC1):c.685+25A>G	ANAPC1	Single nucleotide variant (intron variant)	Rothmund-Thomson syndrome type 1 +1 more	GBenign

ClinVar