C0175694[trait identifier] AND "Counsyl"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 558380	NM_001360.3(DHCR7):c.1426T>A (p.Ter476Lys)	DHCR7	Single nucleotide variant (stop lost)	Smith-Lemli-Opitz syndrome	GLikely pathogenic
Select item 188942	NM_001360.3(DHCR7):c.1426T>C (p.Ter476Gln)	DHCR7	Single nucleotide variant (stop lost)	Smith-Lemli-Opitz syndrome	GConflicting classifications of pathogenicity
Select item 449476	NM_001360.3(DHCR7):c.1406G>C (p.Arg469Pro)	DHCR7 (R469P)	Single nucleotide variant (missense variant)	DHCR7-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 550425	NM_001360.3(DHCR7):c.1405C>T (p.Arg469Cys)	DHCR7 (R469C)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +1 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 555412	NM_001360.3(DHCR7):c.1386C>A (p.Tyr462Ter)	DHCR7 (Y462*)	Single nucleotide variant (nonsense)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 93711	NM_001360.3(DHCR7):c.1384T>C (p.Tyr462His)	DHCR7 (Y462H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 558558	NM_001360.3(DHCR7):c.1349G>A (p.Arg450His)	DHCR7 (R450H)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +3 more	GConflicting classifications of pathogenicity
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 554965	NM_001360.3(DHCR7):c.1342G>C (p.Glu448Gln)	DHCR7 (E448Q)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 551257	NM_001360.3(DHCR7):c.1336C>T (p.Arg446Trp)	DHCR7 (R446W)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +2 more	GConflicting classifications of pathogenicity
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 554159	NM_001360.3(DHCR7):c.1277A>C (p.His426Pro)	DHCR7 (H426P)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GConflicting classifications of pathogenicity
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 552616	NM_001360.3(DHCR7):c.1222T>C (p.Tyr408His)	DHCR7 (Y408H)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +1 more	GPathogenic/Likely pathogenic
Select item 558447	NM_001360.3(DHCR7):c.1210C>G (p.Arg404Gly)	DHCR7 (R404G)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GConflicting classifications of pathogenicity
Select item 552797	NM_001360.3(DHCR7):c.1210C>A (p.Arg404Ser)	DHCR7 (R404S)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GConflicting classifications of pathogenicity
Select item 370443	NM_001360.3(DHCR7):c.1199G>A (p.Trp400Ter)	DHCR7 (W400*)	Single nucleotide variant (nonsense)	Smith-Lemli-Opitz syndrome	GLikely pathogenic
Select item 552200	NM_001360.3(DHCR7):c.1146C>A (p.Tyr382Ter)	DHCR7 (Y382*)	Single nucleotide variant (nonsense)	Smith-Lemli-Opitz syndrome	GLikely pathogenic
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 551712	NM_001360.3(DHCR7):c.1097G>T (p.Gly366Val)	DHCR7 (G366V)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GConflicting classifications of pathogenicity
Select item 370477	NM_001360.3(DHCR7):c.1080_1081del (p.Phe361fs)	DHCR7 (F361fs)	Deletion (frameshift variant)	Smith-Lemli-Opitz syndrome	GLikely pathogenic
Select item 553336	NM_001360.3(DHCR7):c.1079T>C (p.Leu360Pro)	DHCR7 (L360P)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GConflicting classifications of pathogenicity
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 551481	NM_001360.3(DHCR7):c.1057del (p.Val353fs)	DHCR7 (V353fs)	Deletion (frameshift variant)	Smith-Lemli-Opitz syndrome	GPathogenic/Likely pathogenic
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 554780	NM_001360.3(DHCR7):c.1025T>C (p.Leu342Pro)	DHCR7 (L342P)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 551380	NM_001360.3(DHCR7):c.1022T>C (p.Leu341Pro)	DHCR7 (L341P)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 552451	NM_001360.3(DHCR7):c.1010_1018del (p.Ala337_Gly339del)	DHCR7	Deletion (inframe_deletion)	Smith-Lemli-Opitz syndrome	GUncertain significance
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 370597	NM_001360.3(DHCR7):c.995del (p.Leu332fs)	DHCR7 (L332fs)	Deletion (frameshift variant)	Smith-Lemli-Opitz syndrome	GLikely pathogenic
Select item 370588	NM_001360.3(DHCR7):c.991C>T (p.Gln331Ter)	DHCR7 (Q331*)	Single nucleotide variant (nonsense)	Smith-Lemli-Opitz syndrome	GPathogenic/Likely pathogenic
Select item 370286	NM_001360.3(DHCR7):c.981C>A (p.Tyr327Ter)	DHCR7 (Y327*)	Single nucleotide variant (nonsense)	Smith-Lemli-Opitz syndrome	GLikely pathogenic
Select item 458678	NM_001360.3(DHCR7):c.970T>C (p.Tyr324His)	DHCR7 (Y324H)	Single nucleotide variant (missense variant)	not provided +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 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 371059	NM_001360.3(DHCR7):c.963+1G>T	DHCR7	Single nucleotide variant (splice donor variant)	Smith-Lemli-Opitz syndrome	GPathogenic/Likely pathogenic
Select item 558199	NM_001360.3(DHCR7):c.955A>G (p.Thr319Ala)	DHCR7 (T319A)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 558432	NM_001360.3(DHCR7):c.952del (p.Tyr318fs)	DHCR7 (Y318fs)	Deletion (frameshift variant)	Smith-Lemli-Opitz syndrome	GPathogenic/Likely pathogenic
Select item 549916	NM_001360.3(DHCR7):c.939G>A (p.Trp313Ter)	DHCR7 (W313*)	Single nucleotide variant (nonsense)	Smith-Lemli-Opitz syndrome	GPathogenic/Likely pathogenic
Select item 554204	NM_001360.3(DHCR7):c.934_935del (p.Val312fs)	DHCR7 (V312fs)	Microsatellite (frameshift variant)	Smith-Lemli-Opitz syndrome	GLikely pathogenic
Select item 556525	NM_001360.3(DHCR7):c.915C>G (p.Tyr305Ter)	DHCR7 (Y305*)	Single nucleotide variant (nonsense)	Smith-Lemli-Opitz syndrome	GLikely pathogenic
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 552757	NM_001360.3(DHCR7):c.894C>A (p.Cys298Ter)	DHCR7 (C298*)	Single nucleotide variant (nonsense)	Smith-Lemli-Opitz syndrome	GLikely pathogenic
Select item 552371	NM_001360.3(DHCR7):c.874del (p.Tyr291_Leu292insTer)	DHCR7	Deletion (nonsense)	Smith-Lemli-Opitz syndrome	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 6789	NM_001360.3(DHCR7):c.866C>T (p.Thr289Ile)	DHCR7 (T289I)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +2 more	GPathogenic/Likely pathogenic
Select item 500764	NM_001360.3(DHCR7):c.862G>A (p.Glu288Lys)	DHCR7 (E288K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 555540	NM_001360.3(DHCR7):c.858G>A (p.Trp286Ter)	DHCR7 (W286*)	Single nucleotide variant (nonsense)	Smith-Lemli-Opitz syndrome	GLikely pathogenic
Select item 93724	NM_001360.3(DHCR7):c.841G>A (p.Val281Met)	DHCR7 (V281M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 370988	NM_001360.3(DHCR7):c.831+2T>A	DHCR7	Single nucleotide variant (splice donor variant)	Smith-Lemli-Opitz syndrome	GLikely pathogenic
Select item 556307	NM_001360.3(DHCR7):c.808A>G (p.Met270Val)	DHCR7 (M270V)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GPathogenic/Likely pathogenic
Select item 370808	NM_001360.3(DHCR7):c.804del (p.Asn268fs)	DHCR7 (N268fs)	Deletion (frameshift variant)	Smith-Lemli-Opitz syndrome	GLikely pathogenic
Select item 552228	NM_001360.3(DHCR7):c.803del (p.Asn268fs)	DHCR7 (N268fs)	Deletion (frameshift variant)	Smith-Lemli-Opitz syndrome	GPathogenic/Likely pathogenic
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 290579	NM_001360.3(DHCR7):c.742T>C (p.Trp248Arg)	DHCR7 (W248R)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +2 more	GUncertain significance
Select item 280065	NM_001360.3(DHCR7):c.740C>T (p.Ala247Val)	DHCR7 (A247V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 558335	NM_001360.3(DHCR7):c.728C>G (p.Pro243Arg)	DHCR7 (P243R)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GConflicting classifications of pathogenicity
Select item 550877	NM_001360.3(DHCR7):c.704T>C (p.Phe235Ser)	DHCR7 (F235S)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GConflicting classifications of pathogenicity
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 499993	NM_001360.3(DHCR7):c.670G>A (p.Glu224Lys)	DHCR7 (E224K)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +1 more	GConflicting classifications of pathogenicity
Select item 430220	NM_001360.3(DHCR7):c.655T>G (p.Tyr219Asp)	DHCR7 (Y219D)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 371358	NM_001360.3(DHCR7):c.627-1G>A	DHCR7	Single nucleotide variant (splice acceptor variant)	Smith-Lemli-Opitz syndrome	GLikely pathogenic
Select item 557422	NM_001360.3(DHCR7):c.626+1G>C	DHCR7	Single nucleotide variant (splice donor variant)	Smith-Lemli-Opitz syndrome	GLikely pathogenic
Select item 557305	NM_001360.3(DHCR7):c.626+1G>T	DHCR7	Single nucleotide variant (splice donor variant)	Smith-Lemli-Opitz syndrome	GLikely pathogenic
Select item 556433	NM_001360.3(DHCR7):c.536C>T (p.Pro179Leu)	DHCR7 (P179L)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 558484	NM_001360.3(DHCR7):c.532A>T (p.Ile178Phe)	DHCR7 (I178F)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
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 554967	NM_001360.3(DHCR7):c.521T>C (p.Phe174Ser)	DHCR7 (F174S)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 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 558625	NM_001360.3(DHCR7):c.433A>C (p.Ile145Leu)	DHCR7 (I145L)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GPathogenic
Select item 371480	NM_001360.3(DHCR7):c.413-1G>A	DHCR7	Single nucleotide variant (splice acceptor variant)	Smith-Lemli-Opitz syndrome	GLikely pathogenic
Select item 549919	NM_001360.3(DHCR7):c.413-2A>G	DHCR7	Single nucleotide variant (splice acceptor variant)	Smith-Lemli-Opitz syndrome	GLikely pathogenic
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 557981	NM_001360.3(DHCR7):c.397G>A (p.Ala133Thr)	DHCR7 (A133T)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 550951	NM_001360.3(DHCR7):c.326T>C (p.Leu109Pro)	DHCR7 (L109P)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +2 more	GPathogenic/Likely pathogenic
Select item 558319	NM_001360.3(DHCR7):c.322-2A>G	DHCR7	Single nucleotide variant (splice acceptor variant)	Smith-Lemli-Opitz syndrome	GLikely pathogenic
Select item 553296	NM_001360.3(DHCR7):c.296T>C (p.Leu99Pro)	DHCR7 (L99P)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +1 more	GPathogenic/Likely pathogenic
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 556237	NM_001360.3(DHCR7):c.232G>A (p.Gly78Arg)	DHCR7 (G78R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 93714	NM_001360.3(DHCR7):c.199G>A (p.Ala67Thr)	DHCR7 (A67T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 558502	NM_001360.3(DHCR7):c.160G>A (p.Val54Ile)	DHCR7 (V54I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 93712	NM_001360.3(DHCR7):c.151C>T (p.Pro51Ser)	DHCR7 (P51S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
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 550263	NM_001360.3(DHCR7):c.99-1G>C	DHCR7	Single nucleotide variant (splice acceptor variant)	Smith-Lemli-Opitz syndrome	GLikely pathogenic
Select item 305960	NM_001360.3(DHCR7):c.99-5C>T	DHCR7	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 397518	NM_001360.3(DHCR7):c.89G>C (p.Gly30Ala)	DHCR7 (G30A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
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 371066	NM_001360.3(DHCR7):c.16C>T (p.Gln6Ter)	DHCR7 (Q6*)	Single nucleotide variant (nonsense)	Smith-Lemli-Opitz syndrome	GPathogenic/Likely pathogenic
Select item 558728	NM_001360.3(DHCR7):c.14C>T (p.Ser5Leu)	DHCR7 (S5L)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 6791	NM_001360.3(DHCR7):c.3G>A (p.Met1Ile)	DHCR7 (M1I)	Single nucleotide variant (missense variant +1 more)	Smith-Lemli-Opitz syndrome +1 more	GPathogenic/Likely pathogenic

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