ClinVar for PubMed (Select 22391996) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2765084	NM_001360.3(DHCR7):c.1365C>A (p.Tyr455Ter)	DHCR7 (Y467* +5 more)	Single nucleotide variant (nonsense)	Smith-Lemli-Opitz syndrome	GPathogenic
Select item 2424134	NC_000011.9:g.(?_71152249)_(71153318_?)del	DHCR7	Deletion	Smith-Lemli-Opitz syndrome	GPathogenic
Select item 2174465	NM_001360.3(DHCR7):c.1348C>T (p.Arg450Cys)	DHCR7 (R450C)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GLikely pathogenic
Select item 2137188	NM_001360.3(DHCR7):c.1397T>C (p.Val466Ala)	DHCR7 (V466A)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GLikely pathogenic
Select item 2108087	NM_001360.3(DHCR7):c.1012del (p.Val338fs)	DHCR7 (V338fs)	Deletion (frameshift variant)	Smith-Lemli-Opitz syndrome	GPathogenic
Select item 1392687	NM_001360.3(DHCR7):c.1360A>T (p.Lys454Ter)	DHCR7 (K454*)	Single nucleotide variant (nonsense)	Smith-Lemli-Opitz syndrome	GPathogenic
Select item 1066937	NC_000011.9:g.(?_71146411)_(71152496_?)del	DHCR7	Deletion	Smith-Lemli-Opitz syndrome	GLikely pathogenic
Select item 652894	NM_001360.3(DHCR7):c.1349_1350delinsTG (p.Arg450Leu)	DHCR7 (R450L)	Indel (missense variant)	Smith-Lemli-Opitz syndrome +2 more	GPathogenic
Select item 558558	NM_001360.3(DHCR7):c.1349G>A (p.Arg450His)	DHCR7 (R450H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 558361	NM_001360.3(DHCR7):c.1376G>A (p.Trp459Ter)	DHCR7 (W459*)	Single nucleotide variant (nonsense)	Smith-Lemli-Opitz syndrome	GConflicting classifications of pathogenicity
Select item 553880	NM_001360.3(DHCR7):c.1004del (p.Pro335fs)	DHCR7 (P335fs)	Deletion (frameshift variant)	Smith-Lemli-Opitz syndrome	GPathogenic/Likely pathogenic
Select item 520690	NM_001360.3(DHCR7):c.1409T>A (p.Leu470Gln)	DHCR7 (L470Q)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +1 more	GPathogenic/Likely pathogenic
Select item 282268	NM_001360.3(DHCR7):c.1348del (p.Arg450fs)	DHCR7 (R450fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 265097	NM_001360.3(DHCR7):c.1396G>A (p.Val466Met)	DHCR7 (V466M)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 188923	NM_001360.3(DHCR7):c.461C>T (p.Thr154Met)	DHCR7 (T154M)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GPathogenic/Likely pathogenic
Select item 188723	NM_001360.3(DHCR7):c.292C>T (p.Gln98Ter)	DHCR7 (Q98*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 166988	NM_001360.3(DHCR7):c.461C>G (p.Thr154Arg)	DHCR7 (T154R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 93711	NM_001360.3(DHCR7):c.1384T>C (p.Tyr462His)	DHCR7 (Y462H)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +1 more	GConflicting classifications of pathogenicity
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 21272	NM_001360.3(DHCR7):c.1228G>A (p.Gly410Ser)	DHCR7 (G410S)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +2 more	GPathogenic
Select item 6794	NM_001360.3(DHCR7):c.1A>G (p.Met1Val)	DHCR7 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic

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Items: 21