"Genetic Services Laboratory, University of Chicago"[submitter] AND "D - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 305952	NM_001360.3(DHCR7):c.1381C>T (p.Arg461Cys)	DHCR7 (R461C)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +3 more	GUncertain significance
Select item 93710	NM_001360.3(DHCR7):c.1368C>T (p.Gly456=)	DHCR7	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 93709	NM_001360.3(DHCR7):c.1341C>T (p.Asp447=)	DHCR7	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 938032	NM_001360.3(DHCR7):c.1218C>G (p.Phe406Leu)	DHCR7 (F406L)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 166985	NM_001360.3(DHCR7):c.1092G>A (p.Thr364=)	DHCR7	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 305954	NM_001360.3(DHCR7):c.1091C>T (p.Thr364Met)	DHCR7 (T364M)	Single nucleotide variant (missense variant)	DHCR7-related disorder +4 more	GConflicting classifications of pathogenicity
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 1148980	NM_001360.3(DHCR7):c.957G>T (p.Thr319=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome +1 more	GLikely benign
Select item 93724	NM_001360.3(DHCR7):c.841G>A (p.Val281Met)	DHCR7 (V281M)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1338543	NM_001360.3(DHCR7):c.821A>G (p.Asn274Ser)	DHCR7 (N274S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 21274	NM_001360.3(DHCR7):c.506C>T (p.Ser169Leu)	DHCR7 (S169L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 197726	NM_001360.3(DHCR7):c.399C>T (p.Ala133=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome +3 more	GConflicting classifications of pathogenicity
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 197193	NM_001360.3(DHCR7):c.223A>T (p.Ile75Phe)	DHCR7 (I75F)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 166989	NM_001360.3(DHCR7):c.208G>A (p.Gly70Ser)	DHCR7 (G70S)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 166620	NM_001360.3(DHCR7):c.126C>T (p.Ser42=)	DHCR7	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 704613	NM_001360.3(DHCR7):c.99-10G>A	DHCR7	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 501845	NM_001360.3(DHCR7):c.92G>A (p.Arg31His)	DHCR7 (R31H)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 93723	NM_001360.3(DHCR7):c.70G>T (p.Ala24Ser)	DHCR7 (A24S)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity