"Fulgent Genetics, Fulgent Genetics"[submitter] AND "DHCR7"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 520690	NM_001360.3(DHCR7):c.1409T>A (p.Leu470Gln)	DHCR7 (L470Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 596851	NM_001360.3(DHCR7):c.1406G>A (p.Arg469His)	DHCR7 (R469H)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 265097	NM_001360.3(DHCR7):c.1396G>A (p.Val466Met)	DHCR7 (V466M)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +1 more	GPathogenic/Likely pathogenic
Select item 285508	NM_001360.3(DHCR7):c.1370G>A (p.Arg457Gln)	DHCR7 (R457Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1303263	NM_001360.3(DHCR7):c.1369C>T (p.Arg457Trp)	DHCR7 (R457W)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +1 more	GUncertain significance
Select item 595131	NM_001360.3(DHCR7):c.1366G>A (p.Gly456Ser)	DHCR7 (G456S)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1098789	NM_001360.3(DHCR7):c.1354G>A (p.Ala452Thr)	DHCR7 (A452T)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +2 more	GUncertain significance
Select item 282268	NM_001360.3(DHCR7):c.1348del (p.Arg450fs)	DHCR7 (R450fs)	Deletion (frameshift variant)	Smith-Lemli-Opitz syndrome +1 more	GPathogenic/Likely pathogenic
Select item 93709	NM_001360.3(DHCR7):c.1341C>T (p.Asp447=)	DHCR7	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 431994	NM_001360.3(DHCR7):c.1337G>A (p.Arg446Gln)	DHCR7 (R446Q)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 397519	NM_001360.3(DHCR7):c.1328G>A (p.Arg443His)	DHCR7 (R443H)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +1 more	GPathogenic/Likely pathogenic
Select item 557359	NM_001360.3(DHCR7):c.1327C>T (p.Arg443Cys)	DHCR7 (R443C)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GPathogenic/Likely pathogenic
Select item 1306280	NM_001360.3(DHCR7):c.1297A>G (p.Ile433Val)	DHCR7 (I433V)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +1 more	GUncertain significance
Select item 1076651	NM_001360.3(DHCR7):c.1295A>G (p.Tyr432Cys)	DHCR7 (Y432C)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GPathogenic
Select item 422957	NM_001360.3(DHCR7):c.1267G>A (p.Gly423Ser)	DHCR7 (G423S)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +1 more	GUncertain significance
Select item 551635	NM_001360.3(DHCR7):c.1231G>A (p.Asp411Asn)	DHCR7 (D411N)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 21272	NM_001360.3(DHCR7):c.1228G>A (p.Gly410Ser)	DHCR7 (G410S)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 500337	NM_001360.3(DHCR7):c.1225G>A (p.Val409Ile)	DHCR7 (V409I)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +2 more	GUncertain significance
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 6788	NM_001360.3(DHCR7):c.1210C>T (p.Arg404Cys)	DHCR7 (R404C)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +2 more	GPathogenic
Select item 593220	NM_001360.3(DHCR7):c.1159G>A (p.Gly387Arg)	DHCR7 (G387R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 598179	NM_001360.3(DHCR7):c.1153G>A (p.Ala385Thr)	DHCR7 (A385T)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +1 more	GUncertain significance
Select item 189069	NM_001360.3(DHCR7):c.1139G>A (p.Cys380Tyr)	DHCR7 (C380Y)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 284527	NM_001360.3(DHCR7):c.1138T>C (p.Cys380Arg)	DHCR7 (C380R)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +2 more	GPathogenic/Likely pathogenic
Select item 281496	NM_001360.3(DHCR7):c.1099C>T (p.Arg367Cys)	DHCR7 (R367C)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1563788	NM_001360.3(DHCR7):c.1098G>A (p.Gly366=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 305954	NM_001360.3(DHCR7):c.1091C>T (p.Thr364Met)	DHCR7 (T364M)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 883581	NM_001360.3(DHCR7):c.1088G>A (p.Arg363His)	DHCR7 (R363H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 588107	NM_001360.3(DHCR7):c.1087C>T (p.Arg363Cys)	DHCR7 (R363C)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1430961	NM_001360.3(DHCR7):c.1085G>A (p.Arg362His)	DHCR7 (R362H)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GConflicting classifications of pathogenicity
Select item 562390	NM_001360.3(DHCR7):c.1084C>T (p.Arg362Cys)	DHCR7 (R362C)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 813485	NM_001360.3(DHCR7):c.1076_1077dup (p.Leu360fs)	DHCR7 (L360fs)	Duplication (frameshift variant)	Smith-Lemli-Opitz syndrome	GPathogenic/Likely pathogenic
Select item 370598	NM_001360.3(DHCR7):c.1066del (p.His356fs)	DHCR7 (H356fs)	Deletion (frameshift variant)	Smith-Lemli-Opitz syndrome	GPathogenic/Likely pathogenic
Select item 6795	NM_001360.3(DHCR7):c.1055G>A (p.Arg352Gln)	DHCR7 (R352Q)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +1 more	GPathogenic
Select item 6787	NM_001360.3(DHCR7):c.1054C>T (p.Arg352Trp)	DHCR7 (R352W)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +1 more	GPathogenic
Select item 856234	NM_001360.3(DHCR7):c.1031G>A (p.Gly344Asp)	DHCR7 (G344D)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 420113	NM_001360.3(DHCR7):c.988G>A (p.Val330Met)	DHCR7 (V330M)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +2 more	GUncertain significance
Select item 6785	NM_001360.3(DHCR7):c.976G>T (p.Val326Leu)	DHCR7 (V326L)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +1 more	GPathogenic/Likely pathogenic
Select item 305956	NM_001360.3(DHCR7):c.964-1G>T	DHCR7	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 93725	NM_001360.3(DHCR7):c.964-1G>C	DHCR7	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic
Select item 439594	NM_001360.3(DHCR7):c.964-5C>T	DHCR7	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1135355	NM_001360.3(DHCR7):c.964-10C>T	DHCR7	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 371183	NM_001360.3(DHCR7):c.963+2T>G	DHCR7	Single nucleotide variant (splice donor variant)	Smith-Lemli-Opitz syndrome	GPathogenic/Likely pathogenic
Select item 632784	NM_001360.3(DHCR7):c.956C>T (p.Thr319Met)	DHCR7 (T319M)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +2 more	GUncertain significance
Select item 594095	NM_001360.3(DHCR7):c.947A>G (p.Tyr316Cys)	DHCR7 (Y316C)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +1 more	GUncertain significance
Select item 198773	NM_001360.3(DHCR7):c.907G>A (p.Gly303Arg)	DHCR7 (G303R)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +3 more	GPathogenic/Likely pathogenic
Select item 21277	NM_001360.3(DHCR7):c.906C>G (p.Phe302Leu)	DHCR7 (F302L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 552520	NM_001360.3(DHCR7):c.870G>A (p.Trp290Ter)	DHCR7 (W290*)	Single nucleotide variant (nonsense)	Smith-Lemli-Opitz syndrome	GPathogenic/Likely pathogenic
Select item 558708	NM_001360.3(DHCR7):c.861C>A (p.Asn287Lys)	DHCR7 (N287K)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GLikely pathogenic
Select item 1330486	NM_001360.3(DHCR7):c.823G>A (p.Val275Ile)	DHCR7 (V275I)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 1083147	NM_001360.3(DHCR7):c.822C>T (p.Asn274=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 521214	NM_001360.3(DHCR7):c.770C>T (p.Ala257Val)	DHCR7 (A257V)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +2 more	GUncertain significance
Select item 21276	NM_001360.3(DHCR7):c.725G>A (p.Arg242His)	DHCR7 (R242H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 21275	NM_001360.3(DHCR7):c.724C>T (p.Arg242Cys)	DHCR7 (R242C)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 445437	NM_001360.3(DHCR7):c.719A>G (p.Asn240Ser)	DHCR7 (N240S)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 771554	NM_001360.3(DHCR7):c.690G>C (p.Gly230=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 558494	NM_001360.3(DHCR7):c.682C>T (p.Arg228Trp)	DHCR7 (R228W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1345233	NM_001360.3(DHCR7):c.660G>C (p.Met220Ile)	DHCR7 (M220I)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 502017	NM_001360.3(DHCR7):c.658A>T (p.Met220Leu)	DHCR7 (M220L)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +1 more	GUncertain significance
Select item 633186	NM_001360.3(DHCR7):c.651C>A (p.Tyr217Ter)	DHCR7 (Y217*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 557854	NM_001360.3(DHCR7):c.638G>A (p.Gly213Asp)	DHCR7 (G213D)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 589344	NM_001360.3(DHCR7):c.616G>A (p.Ala206Thr)	DHCR7 (A206T)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +1 more	GUncertain significance
Select item 1164655	NM_001360.3(DHCR7):c.586A>G (p.Met196Val)	DHCR7 (M196V)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GBenign
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 623647	NM_001360.3(DHCR7):c.546G>A (p.Trp182Ter)	DHCR7 (W182*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1079209	NM_001360.3(DHCR7):c.543G>C (p.Leu181=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome +1 more	GLikely benign
Select item 550600	NM_001360.3(DHCR7):c.523G>A (p.Asp175Asn)	DHCR7 (D175N)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 291243	NM_001360.3(DHCR7):c.520T>G (p.Phe174Val)	DHCR7 (F174V)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +2 more	GUncertain significance
Select item 759350	NM_001360.3(DHCR7):c.513C>T (p.Thr171=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 93720	NM_001360.3(DHCR7):c.485C>T (p.Ala162Val)	DHCR7 (A162V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 488492	NM_001360.3(DHCR7):c.470T>C (p.Leu157Pro)	DHCR7 (L157P)	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 166988	NM_001360.3(DHCR7):c.461C>G (p.Thr154Arg)	DHCR7 (T154R)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 21273	NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter)	DHCR7 (W151*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +6 more	GPathogenic/Likely pathogenic
Select item 381657	NM_001360.3(DHCR7):c.440G>A (p.Gly147Asp)	DHCR7 (G147D)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 93719	NM_001360.3(DHCR7):c.438T>C (p.Asn146=)	DHCR7	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign
Select item 852032	NM_001360.3(DHCR7):c.418G>A (p.Val140Met)	DHCR7 (V140M)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 370449	NM_001360.3(DHCR7):c.385_412+5del	DHCR7	Deletion (splice donor variant)	Smith-Lemli-Opitz syndrome +2 more	GPathogenic/Likely pathogenic
Select item 93718	NM_001360.3(DHCR7):c.400G>T (p.Val134Leu)	DHCR7 (V134L)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +3 more	GConflicting classifications of pathogenicity
Select item 703620	NM_001360.3(DHCR7):c.369C>T (p.Pro123=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 520689	NM_001360.3(DHCR7):c.356A>G (p.His119Arg)	DHCR7 (H119R)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +2 more	GUncertain significance
Select item 6780	NM_001360.3(DHCR7):c.356A>T (p.His119Leu)	DHCR7 (H119L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 813425	NM_001360.3(DHCR7):c.355del (p.His119fs)	DHCR7 (H119fs)	Deletion (frameshift variant)	Smith-Lemli-Opitz syndrome	GPathogenic/Likely pathogenic
Select item 1610945	NM_001360.3(DHCR7):c.342C>A (p.Leu114=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 721759	NM_001360.3(DHCR7):c.304T>C (p.Leu102=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 703779	NM_001360.3(DHCR7):c.303C>T (p.Thr101=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 188723	NM_001360.3(DHCR7):c.292C>T (p.Gln98Ter)	DHCR7 (Q98*)	Single nucleotide variant (nonsense)	Smith-Lemli-Opitz syndrome +1 more	GPathogenic/Likely pathogenic
Select item 305958	NM_001360.3(DHCR7):c.289G>A (p.Ala97Thr)	DHCR7 (A97T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1151703	NM_001360.3(DHCR7):c.279G>A (p.Thr93=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 1120321	NM_001360.3(DHCR7):c.237T>C (p.His79=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 197193	NM_001360.3(DHCR7):c.223A>T (p.Ile75Phe)	DHCR7 (I75F)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +3 more	GUncertain significance
Select item 166989	NM_001360.3(DHCR7):c.208G>A (p.Gly70Ser)	DHCR7 (G70S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 288193	NM_001360.3(DHCR7):c.131T>C (p.Ile44Thr)	DHCR7 (I44T)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +2 more	GUncertain significance
Select item 813604	NM_001360.3(DHCR7):c.127G>A (p.Val43Ile)	DHCR7 (V43I)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +2 more	GConflicting classifications of pathogenicity
Select item 286285	NM_001360.3(DHCR7):c.122C>T (p.Ala41Val)	DHCR7 (A41V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 189168	NM_001360.3(DHCR7):c.111G>A (p.Trp37Ter)	DHCR7 (W37*)	Single nucleotide variant (nonsense)	Smith-Lemli-Opitz syndrome	GPathogenic/Likely pathogenic
Select item 1569361	NM_001360.3(DHCR7):c.99-7C>T	DHCR7	Single nucleotide variant (intron variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 370573	NM_001360.3(DHCR7):c.82C>T (p.Gln28Ter)	DHCR7 (Q28*)	Single nucleotide variant (nonsense)	Smith-Lemli-Opitz syndrome	GPathogenic/Likely pathogenic
Select item 594053	NM_001360.3(DHCR7):c.70G>A (p.Ala24Thr)	DHCR7 (A24T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1666157	NM_001360.3(DHCR7):c.12A>G (p.Lys4=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign

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