ClinVar for MedGen (Select 376537) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 374209	NM_001360.3(DHCR7):c.655T>C (p.Tyr219His)	DHCR7 (Y219H)	Single nucleotide variant (missense variant)	Elevated circulating 7-dehydrocholesterol concentration +3 more	GLikely pathogenic
Select item 21273	NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter)	DHCR7 (W151*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +7 more	GPathogenic/Likely pathogenic