ClinVar for MedGen (Select 1684764) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2439035	NM_022662.4(ANAPC1):c.236G>A (p.Gly79Glu)	ANAPC1 (G79E)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 1	GUncertain significance
Select item 2439034	NM_022662.4(ANAPC1):c.1452A>T (p.Lys484Asn)	ANAPC1 (K484N)	Single nucleotide variant (missense variant)	Rothmund-Thomson syndrome type 1	GUncertain significance
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
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 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 1188976	NM_022662.4(ANAPC1):c.*2C>T	ANAPC1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 790439	NM_022662.4(ANAPC1):c.3100G>A (p.Val1034Met)	ANAPC1 (V1034M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 783338	NM_022662.4(ANAPC1):c.681T>C (p.Ser227=)	ANAPC1	Single nucleotide variant (synonymous variant)	Rothmund-Thomson syndrome type 1 +1 more	GBenign/Likely benign
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 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 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 694496	NM_022662.4(ANAPC1):c.[2705-198C>T;4880_4881AC[1]]	ANAPC1 (T1628fs)	Single nucleotide variant (intron variant +1 more)	Rothmund-Thomson syndrome type 1	GLikely pathogenic
Select item 694459	NM_022662.4(ANAPC1):c.[2705-198C>T;4373+1G>A]	ANAPC1	Single nucleotide variant (intron variant +1 more)	Rothmund-Thomson syndrome type 1	GLikely pathogenic
Select item 694458	NM_022662.4(ANAPC1):c.[1778dup;2705-198C>T]	ANAPC1 (N593fs)	Single nucleotide variant (intron variant +1 more)	Rothmund-Thomson syndrome type 1	GLikely pathogenic
Select item 692106	NM_022662.4(ANAPC1):c.4373+1G>A	ANAPC1	Single nucleotide variant (splice donor variant)	Rothmund-Thomson syndrome type 1	GPathogenic
Select item 692105	NM_022662.4(ANAPC1):c.1778dup (p.Asn593fs)	ANAPC1 (N593fs)	Duplication (frameshift variant)	Rothmund-Thomson syndrome type 1	GPathogenic
Select item 692104	NM_022662.4(ANAPC1):c.2705-198C>T	ANAPC1	Single nucleotide variant (intron variant)	Rothmund-Thomson syndrome type 1	GPathogenic/Likely pathogenic