"PreventionGenetics, part of Exact Sciences"[submitter] AND "DHCR7"[ge - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3030902	NM_001360.3(DHCR7):c.*7G>A	DHCR7	Single nucleotide variant (3 prime UTR variant)	DHCR7-related disorder	GLikely benign
Select item 1084648	NM_001360.3(DHCR7):c.1416T>G (p.Pro472=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome +1 more	GLikely benign
Select item 501850	NM_001360.3(DHCR7):c.1410G>A (p.Leu470=)	DHCR7	Single nucleotide variant (synonymous variant)	DHCR7-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 449476	NM_001360.3(DHCR7):c.1406G>C (p.Arg469Pro)	DHCR7 (R469P)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 1066741	NM_001360.3(DHCR7):c.1328G>T (p.Arg443Leu)	DHCR7 (R443L)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +2 more	GLikely pathogenic
Select item 305953	NM_001360.3(DHCR7):c.1273G>A (p.Gly425Ser)	DHCR7 (G425S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 93708	NM_001360.3(DHCR7):c.1272C>T (p.Gly424=)	DHCR7	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 707135	NM_001360.3(DHCR7):c.1269C>T (p.Gly423=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome +2 more	GLikely benign
Select item 2156746	NM_001360.3(DHCR7):c.1230C>T (p.Gly410=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome +1 more	GLikely benign
Select item 1457187	NM_001360.3(DHCR7):c.1228G>C (p.Gly410Arg)	DHCR7 (G410R)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +1 more	GPathogenic/Likely pathogenic
Select item 6788	NM_001360.3(DHCR7):c.1210C>T (p.Arg404Cys)	DHCR7 (R404C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic
Select item 93707	NM_001360.3(DHCR7):c.1158T>C (p.Asp386=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome +4 more	GBenign
Select item 1223840	NM_001360.3(DHCR7):c.1143C>T (p.Ser381=)	DHCR7	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2980046	NM_001360.3(DHCR7):c.1137G>A (p.Glu379=)	DHCR7 (S392N +1 more)	Single nucleotide variant (synonymous variant +1 more)	DHCR7-related disorder +1 more	GLikely benign
Select item 514353	NM_001360.3(DHCR7):c.1134C>T (p.Ile378=)	DHCR7	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 166985	NM_001360.3(DHCR7):c.1092G>A (p.Thr364=)	DHCR7	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +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)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 370598	NM_001360.3(DHCR7):c.1066del (p.His356fs)	DHCR7 (H356fs)	Deletion (frameshift variant)	DHCR7-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 6787	NM_001360.3(DHCR7):c.1054C>T (p.Arg352Trp)	DHCR7 (R352W)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 93706	NM_001360.3(DHCR7):c.1012G>A (p.Val338Met)	DHCR7 (V338M)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +4 more	GConflicting classifications of pathogenicity
Select item 420113	NM_001360.3(DHCR7):c.988G>A (p.Val330Met)	DHCR7 (V330M)	Single nucleotide variant (missense variant)	DHCR7-related disorder +3 more	GUncertain significance
Select item 588352	NM_001360.3(DHCR7):c.987C>T (p.Pro329=)	DHCR7	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 305956	NM_001360.3(DHCR7):c.964-1G>T	DHCR7	Single nucleotide variant (splice acceptor variant)	DHCR7-related disorder +3 more	GPathogenic/Likely pathogenic
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 1157832	NM_001360.3(DHCR7):c.964-6C>T	DHCR7	Single nucleotide variant (intron variant)	DHCR7-related disorder +1 more	GLikely benign
Select item 593565	NM_001360.3(DHCR7):c.957G>A (p.Thr319=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome +2 more	GConflicting classifications of pathogenicity
Select item 289153	NM_001360.3(DHCR7):c.927C>A (p.Gly309=)	DHCR7	Single nucleotide variant (synonymous variant)	DHCR7-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 198773	NM_001360.3(DHCR7):c.907G>A (p.Gly303Arg)	DHCR7 (G303R)	Single nucleotide variant (missense variant)	See cases +4 more	GConflicting classifications of pathogenicity
Select item 198772	NM_001360.3(DHCR7):c.906C>T (p.Phe302=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1116338	NM_001360.3(DHCR7):c.888C>T (p.Asp296=)	DHCR7	Single nucleotide variant (synonymous variant)	DHCR7-related disorder +1 more	GLikely benign
Select item 287781	NM_001360.3(DHCR7):c.855C>T (p.Phe285=)	DHCR7	Single nucleotide variant (synonymous variant)	DHCR7-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 93724	NM_001360.3(DHCR7):c.841G>A (p.Val281Met)	DHCR7 (V281M)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +3 more	GPathogenic/Likely pathogenic
Select item 289501	NM_001360.3(DHCR7):c.840C>T (p.Tyr280=)	DHCR7	Single nucleotide variant (synonymous variant)	DHCR7-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 6790	NM_001360.3(DHCR7):c.839A>G (p.Tyr280Cys)	DHCR7 (Y280C)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +1 more	GPathogenic/Likely pathogenic
Select item 597874	NM_001360.3(DHCR7):c.831+7G>A	DHCR7	Single nucleotide variant (intron variant)	Smith-Lemli-Opitz syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1083147	NM_001360.3(DHCR7):c.822C>T (p.Asn274=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome +1 more	GLikely benign
Select item 710447	NM_001360.3(DHCR7):c.735C>T (p.Ile245=)	DHCR7	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 771554	NM_001360.3(DHCR7):c.690G>C (p.Gly230=)	DHCR7	Single nucleotide variant (synonymous variant)	DHCR7-related disorder +1 more	GLikely benign
Select item 1124855	NM_001360.3(DHCR7):c.669C>T (p.Ile223=)	DHCR7	Single nucleotide variant (synonymous variant)	DHCR7-related disorder +1 more	GLikely benign
Select item 93721	NM_001360.3(DHCR7):c.626+15G>A	DHCR7	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 767528	NM_001360.3(DHCR7):c.579C>G (p.Thr193=)	DHCR7	Single nucleotide variant (synonymous variant)	DHCR7-related disorder +1 more	GLikely benign
Select item 257966	NM_001360.3(DHCR7):c.549C>T (p.Cys183=)	DHCR7	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1079209	NM_001360.3(DHCR7):c.543G>C (p.Leu181=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome +2 more	GLikely benign
Select item 759350	NM_001360.3(DHCR7):c.513C>T (p.Thr171=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome +1 more	GLikely benign
Select item 1055477	NM_001360.3(DHCR7):c.484G>A (p.Ala162Thr)	DHCR7 (A162T)	Single nucleotide variant (missense variant)	DHCR7-related disorder +1 more	GUncertain significance
Select item 702995	NM_001360.3(DHCR7):c.483C>T (p.Asn161=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome +2 more	GLikely benign
Select item 2636463	NM_001360.3(DHCR7):c.474G>T (p.Trp158Cys)	DHCR7 (W158C)	Single nucleotide variant (missense variant)	DHCR7-related disorder	GUncertain significance
Select item 166988	NM_001360.3(DHCR7):c.461C>G (p.Thr154Arg)	DHCR7 (T154R)	Single nucleotide variant (missense variant)	DHCR7-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 21273	NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter)	DHCR7 (W151*)	Single nucleotide variant (nonsense)	DHCR7-related disorder +7 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 370449	NM_001360.3(DHCR7):c.385_412+5del	DHCR7	Deletion (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 514122	NM_001360.3(DHCR7):c.412+4G>A	DHCR7	Single nucleotide variant (intron variant)	DHCR7-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 197726	NM_001360.3(DHCR7):c.399C>T (p.Ala133=)	DHCR7	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 257965	NM_001360.3(DHCR7):c.321+34C>A	DHCR7	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 305959	NM_001360.3(DHCR7):c.241C>T (p.Arg81Trp)	DHCR7 (R81W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 93716	NM_001360.3(DHCR7):c.231C>T (p.Thr77=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome +3 more	GBenign
Select item 166989	NM_001360.3(DHCR7):c.208G>A (p.Gly70Ser)	DHCR7 (G70S)	Single nucleotide variant (missense variant)	DHCR7-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 93715	NM_001360.3(DHCR7):c.207T>C (p.Thr69=)	DHCR7	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign
Select item 93714	NM_001360.3(DHCR7):c.199G>A (p.Ala67Thr)	DHCR7 (A67T)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 290442	NM_001360.3(DHCR7):c.198C>T (p.Cys66=)	DHCR7	Single nucleotide variant (synonymous variant)	DHCR7-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 93713	NM_001360.3(DHCR7):c.189G>A (p.Gln63=)	DHCR7	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 528376	NM_001360.3(DHCR7):c.159C>T (p.Ile53=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome +2 more	GLikely benign
Select item 283587	NM_001360.3(DHCR7):c.139C>T (p.Leu47=)	DHCR7	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 166620	NM_001360.3(DHCR7):c.126C>T (p.Ser42=)	DHCR7	Single nucleotide variant (synonymous variant)	DHCR7-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 305960	NM_001360.3(DHCR7):c.99-5C>T	DHCR7	Single nucleotide variant (intron variant)	DHCR7-related disorder +3 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 397518	NM_001360.3(DHCR7):c.89G>C (p.Gly30Ala)	DHCR7 (G30A)	Single nucleotide variant (missense variant)	DHCR7-related disorder +3 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 specified +4 more	GConflicting classifications of pathogenicity
Select item 93722	NM_001360.3(DHCR7):c.69C>T (p.Thr23=)	DHCR7	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
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
Select item 3052442	NM_001360.3(DHCR7):c.-6-2A>T	DHCR7	Single nucleotide variant (splice acceptor variant)	DHCR7-related disorder	GUncertain significance
Select item 305961	NM_001360.3(DHCR7):c.-6-4G>A	DHCR7	Single nucleotide variant (intron variant)	DHCR7-related disorder +1 more	GConflicting classifications of pathogenicity

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Items: 74