"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664961	NM_020706.2(SCAF4):c.1669dup (p.Tyr557fs)	SCAF4 (Y542fs +1 more)	Duplication (frameshift variant)	Fliedner-Zweier syndrome	GPathogenic
Select item 3238616	NM_020706.2(SCAF4):c.1471C>T (p.Arg491Ter)	SCAF4 (R476* +1 more)	Single nucleotide variant (nonsense)	Fliedner-Zweier syndrome	GPathogenic/Likely pathogenic
Select item 2691851	NM_020706.2(SCAF4):c.169G>T (p.Glu57Ter)	SCAF4 (E42* +1 more)	Single nucleotide variant (nonsense)	Fliedner-Zweier syndrome	GLikely pathogenic

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