"Gharavi Laboratory, Columbia University"[submitter] AND "DHCR7"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 562390	NM_001360.3(DHCR7):c.1084C>T (p.Arg362Cys)	DHCR7 (R362C)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 93725	NM_001360.3(DHCR7):c.964-1G>C	DHCR7	Single nucleotide variant (splice acceptor variant)	Global developmental delay +5 more	GPathogenic/Likely pathogenic
Select item 562391	NM_001360.3(DHCR7):c.895C>T (p.His299Tyr)	DHCR7 (H299Y)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 21273	NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter)	DHCR7 (W151*)	Single nucleotide variant (nonsense)	Primary microcephaly +7 more	GPathogenic/Likely pathogenic
Select item 93714	NM_001360.3(DHCR7):c.199G>A (p.Ala67Thr)	DHCR7 (A67T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 281489	NM_001360.3(DHCR7):c.91C>T (p.Arg31Cys)	DHCR7 (R31C)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity

ClinVar