"Human Genome and Stem Cell Research Center, Department of Genetics an - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1710084	NC_000010.11:g.68413754_68420303del	DNA2, LOC132089842 +1 more	Deletion	Rothmund-Thomson syndrome	GPathogenic
Select item 1710085	NM_001080449.3(DNA2):c.2208+2456_2403-18del	DNA2	Deletion (splice acceptor variant +1 more)	Rothmund-Thomson syndrome	GPathogenic
Select item 1710083	NM_001080449.3(DNA2):c.1711dup (p.Ile571fs)	DNA2 (I571fs)	Duplication (frameshift variant +1 more)	Rothmund-Thomson syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1710081	NM_001080449.3(DNA2):c.588-2214A>G	DNA2	Single nucleotide variant (intron variant)	Rothmund-Thomson syndrome	GPathogenic
Select item 1710086	NM_001080449.3(DNA2):c.442-768_587+648del	DNA2	Deletion (splice acceptor variant +1 more)	Rothmund-Thomson syndrome	GPathogenic
Select item 1710082	NM_001080449.3(DNA2):c.143T>C (p.Leu48Pro)	DNA2 (L48P)	Single nucleotide variant (missense variant +1 more)	Rothmund-Thomson syndrome	GLikely pathogenic

ClinVar