"Equipe Genetique des Anomalies du Developpement, Université de Bourgo - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 559921	NM_004260.4(RECQL4):c.3293_3294insGCAGGATGAGGAGCGCAGCA (p.Arg1099fs)	RECQL4 (R1099fs)	Insertion (frameshift variant)	Rothmund-Thomson syndrome	GLikely pathogenic
Select item 559922	NM_004260.4(RECQL4):c.2336_2357del (p.Asp779fs)	RECQL4 (D779fs)	Deletion (frameshift variant)	Rothmund-Thomson syndrome	GLikely pathogenic
Select item 6063	NM_004260.4(RECQL4):c.2269C>T (p.Gln757Ter)	RECQL4 (Q757*)	Single nucleotide variant (nonsense)	Rothmund-Thomson syndrome type 2 +6 more	GPathogenic

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