"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 93725	NM_001360.3(DHCR7):c.964-1G>C	DHCR7	Single nucleotide variant (splice acceptor variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 21273	NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter)	DHCR7 (W151*)	Single nucleotide variant (nonsense)	DHCR7-related disorder +7 more	GPathogenic/Likely pathogenic
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic

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