C0175694[trait identifier] AND "Genome Diagnostics Laboratory, Univers - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 93709	NM_001360.3(DHCR7):c.1341C>T (p.Asp447=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome +3 more	GBenign/Likely benign
Select item 93725	NM_001360.3(DHCR7):c.964-1G>C	DHCR7	Single nucleotide variant (splice acceptor variant)	Smith-Lemli-Opitz syndrome +3 more	GPathogenic/Likely pathogenic
Select item 21273	NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter)	DHCR7 (W151*)	Single nucleotide variant (nonsense)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 93719	NM_001360.3(DHCR7):c.438T>C (p.Asn146=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome +3 more	GBenign
Select item 93717	NM_001360.3(DHCR7):c.321+10C>T	DHCR7	Single nucleotide variant (intron variant)	Smith-Lemli-Opitz syndrome +2 more	GConflicting classifications of pathogenicity
Select item 166620	NM_001360.3(DHCR7):c.126C>T (p.Ser42=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome +3 more	GConflicting classifications of pathogenicity
Select item 93726	NM_001360.3(DHCR7):c.99-4G>A	DHCR7, NADSYN1	Single nucleotide variant (intron variant)	Smith-Lemli-Opitz syndrome +3 more	GBenign/Likely benign
Select item 6791	NM_001360.3(DHCR7):c.3G>A (p.Met1Ile)	DHCR7 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic

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