"Natera, Inc."[submitter] AND "DHCR7"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 305948	NM_001360.3(DHCR7):c.161_172del	DHCR7	Deletion (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 501850	NM_001360.3(DHCR7):c.1410G>A (p.Leu470=)	DHCR7	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
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 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 550425	NM_001360.3(DHCR7):c.1405C>T (p.Arg469Cys)	DHCR7 (R469C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 305951	NM_001360.3(DHCR7):c.1389C>T (p.Thr463=)	DHCR7	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 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 93710	NM_001360.3(DHCR7):c.1368C>T (p.Gly456=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome +3 more	GConflicting classifications of pathogenicity
Select item 595131	NM_001360.3(DHCR7):c.1366G>A (p.Gly456Ser)	DHCR7 (G456S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 290040	NM_001360.3(DHCR7):c.1365C>T (p.Tyr455=)	DHCR7	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 199066	NM_001360.3(DHCR7):c.1362G>A (p.Lys454=)	DHCR7	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1098789	NM_001360.3(DHCR7):c.1354G>A (p.Ala452Thr)	DHCR7 (A452T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 6792	NM_001360.3(DHCR7):c.1342G>A (p.Glu448Lys)	DHCR7 (E448K)	Single nucleotide variant (missense 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)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 1047373	NM_001360.3(DHCR7):c.1334_1336dup (p.Leu445dup)	DHCR7	Duplication (inframe_insertion)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 990549	NM_001360.3(DHCR7):c.1295A>T (p.Tyr432Phe)	DHCR7 (Y432F)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
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)	DHCR7-related disorder +2 more	GLikely benign
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 21272	NM_001360.3(DHCR7):c.1228G>A (p.Gly410Ser)	DHCR7 (G410S)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 813483	NM_001360.3(DHCR7):c.1219A>T (p.Asn407Tyr)	DHCR7 (N407Y)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GPathogenic/Likely pathogenic
Select item 938032	NM_001360.3(DHCR7):c.1218C>G (p.Phe406Leu)	DHCR7 (F406L)	Single nucleotide variant (missense variant)	not provided +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 +3 more	GPathogenic
Select item 594428	NM_001360.3(DHCR7):c.1168C>T (p.His390Tyr)	DHCR7 (H390Y)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 93707	NM_001360.3(DHCR7):c.1158T>C (p.Asp386=)	DHCR7	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
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)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 514353	NM_001360.3(DHCR7):c.1134C>T (p.Ile378=)	DHCR7	Single nucleotide variant (synonymous variant)	DHCR7-related disorder +2 more	GLikely benign
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 166985	NM_001360.3(DHCR7):c.1092G>A (p.Thr364=)	DHCR7	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
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 551481	NM_001360.3(DHCR7):c.1057del (p.Val353fs)	DHCR7 (V353fs)	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)	not provided +1 more	GPathogenic
Select item 6787	NM_001360.3(DHCR7):c.1054C>T (p.Arg352Trp)	DHCR7 (R352W)	Single nucleotide variant (missense variant)	DHCR7-related disorder +2 more	GPathogenic
Select item 990550	NM_001360.3(DHCR7):c.1048A>G (p.Ile350Val)	DHCR7 (I350V)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
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 384536	NM_001360.3(DHCR7):c.1011C>T (p.Ala337=)	DHCR7	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 166986	NM_001360.3(DHCR7):c.1008C>T (p.His336=)	DHCR7	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 420113	NM_001360.3(DHCR7):c.988G>A (p.Val330Met)	DHCR7 (V330M)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 588352	NM_001360.3(DHCR7):c.987C>T (p.Pro329=)	DHCR7	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 6785	NM_001360.3(DHCR7):c.976G>T (p.Val326Leu)	DHCR7 (V326L)	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)	Smith-Lemli-Opitz syndrome +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 990551	NM_001360.3(DHCR7):c.959T>C (p.Leu320Pro)	DHCR7 (L320P)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
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 990552	NM_001360.3(DHCR7):c.944C>T (p.Pro315Leu)	DHCR7 (P315L)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 839516	NM_001360.3(DHCR7):c.939G>C (p.Trp313Cys)	DHCR7 (W313C)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
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 640944	NM_001360.3(DHCR7):c.907G>T (p.Gly303Trp)	DHCR7 (G303W)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GLikely pathogenic
Select item 198772	NM_001360.3(DHCR7):c.906C>T (p.Phe302=)	DHCR7	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 595087	NM_001360.3(DHCR7):c.902A>G (p.His301Arg)	DHCR7 (H301R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 500764	NM_001360.3(DHCR7):c.862G>A (p.Glu288Lys)	DHCR7 (E288K)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +2 more	GConflicting classifications of pathogenicity
Select item 287781	NM_001360.3(DHCR7):c.855C>T (p.Phe285=)	DHCR7	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 658626	NM_001360.3(DHCR7):c.852C>A (p.Phe284Leu)	DHCR7 (F284L)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +1 more	GPathogenic/Likely pathogenic
Select item 289501	NM_001360.3(DHCR7):c.840C>T (p.Tyr280=)	DHCR7	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 1039683	NM_001360.3(DHCR7):c.782A>G (p.Glu261Gly)	DHCR7 (E261G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 593792	NM_001360.3(DHCR7):c.771G>A (p.Ala257=)	DHCR7	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 848265	NM_001360.3(DHCR7):c.766G>T (p.Ala256Ser)	DHCR7 (A256S)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
Select item 702010	NM_001360.3(DHCR7):c.765C>T (p.Phe255=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome +2 more	GConflicting classifications of pathogenicity
Select item 754778	NM_001360.3(DHCR7):c.756C>T (p.Asn252=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 710447	NM_001360.3(DHCR7):c.735C>T (p.Ile245=)	DHCR7	Single nucleotide variant (synonymous variant)	DHCR7-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 6781	NM_001360.3(DHCR7):c.730G>A (p.Gly244Arg)	DHCR7 (G244R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 287363	NM_001360.3(DHCR7):c.729C>T (p.Pro243=)	DHCR7	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 21276	NM_001360.3(DHCR7):c.725G>A (p.Arg242His)	DHCR7 (R242H)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +1 more	GPathogenic/Likely pathogenic
Select item 445437	NM_001360.3(DHCR7):c.719A>G (p.Asn240Ser)	DHCR7 (N240S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1005590	NM_001360.3(DHCR7):c.687C>G (p.Ile229Met)	DHCR7 (I229M)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
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 993669	NM_001360.3(DHCR7):c.662T>G (p.Met221Arg)	DHCR7 (M221R)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
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 990553	NM_001360.3(DHCR7):c.634A>G (p.Thr212Ala)	DHCR7 (T212A)	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 439593	NM_001360.3(DHCR7):c.627-29T>G	DHCR7	Single nucleotide variant (intron variant)	Smith-Lemli-Opitz syndrome	GBenign
Select item 93721	NM_001360.3(DHCR7):c.626+15G>A	DHCR7	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 990554	NM_001360.3(DHCR7):c.626+7T>A	DHCR7	Single nucleotide variant (intron 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 305957	NM_001360.3(DHCR7):c.570C>T (p.Ala190=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome +2 more	GBenign/Likely benign
Select item 587801	NM_001360.3(DHCR7):c.560T>C (p.Leu187Pro)	DHCR7 (L187P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 257966	NM_001360.3(DHCR7):c.549C>T (p.Cys183=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome +3 more	GBenign/Likely benign
Select item 166987	NM_001360.3(DHCR7):c.522C>T (p.Phe174=)	DHCR7	Single nucleotide variant (synonymous variant)	not provided +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 928932	NM_001360.3(DHCR7):c.501G>A (p.Trp167Ter)	DHCR7 (W167*)	Single nucleotide variant (nonsense)	Smith-Lemli-Opitz syndrome	GLikely pathogenic
Select item 93720	NM_001360.3(DHCR7):c.485C>T (p.Ala162Val)	DHCR7 (A162V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1055477	NM_001360.3(DHCR7):c.484G>A (p.Ala162Thr)	DHCR7 (A162T)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +1 more	GUncertain significance
Select item 488492	NM_001360.3(DHCR7):c.470T>C (p.Leu157Pro)	DHCR7 (L157P)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1131620	NM_001360.3(DHCR7):c.465C>T (p.His155=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
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)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 990555	NM_001360.3(DHCR7):c.454C>T (p.Leu152Phe)	DHCR7 (L152F)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome	GUncertain significance
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 1109762	NM_001360.3(DHCR7):c.442C>T (p.Leu148=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome	GLikely benign
Select item 381657	NM_001360.3(DHCR7):c.440G>A (p.Gly147Asp)	DHCR7 (G147D)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +1 more	GPathogenic/Likely pathogenic
Select item 632172	NM_001360.3(DHCR7):c.438T>G (p.Asn146Lys)	DHCR7 (N146K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 93719	NM_001360.3(DHCR7):c.438T>C (p.Asn146=)	DHCR7	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign

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