"GeneDx"[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 305949	NM_001360.3(DHCR7):c.*119G>A	DHCR7	Single nucleotide variant (3 prime UTR variant)	Smith-Lemli-Opitz syndrome +1 more	GConflicting classifications of pathogenicity
Select item 881166	NM_001360.3(DHCR7):c.*28G>T	DHCR7	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1518612	NM_001360.3(DHCR7):c.1424T>C (p.Phe475Ser)	DHCR7 (F475S)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 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 1699613	NM_001360.3(DHCR7):c.1390G>A (p.Ala464Thr)	DHCR7 (A464T)	Single nucleotide variant (missense variant)	not provided +1 more	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 305952	NM_001360.3(DHCR7):c.1381C>T (p.Arg461Cys)	DHCR7 (R461C)	Single nucleotide variant (missense variant)	not provided +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 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 290040	NM_001360.3(DHCR7):c.1365C>T (p.Tyr455=)	DHCR7	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +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)	Smith-Lemli-Opitz syndrome +2 more	GUncertain significance
Select item 1709241	NM_001360.3(DHCR7):c.1351T>C (p.Cys451Arg)	DHCR7 (C451R)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +1 more	GPathogenic/Likely pathogenic
Select item 652894	NM_001360.3(DHCR7):c.1349_1350delinsTG (p.Arg450Leu)	DHCR7 (R450L)	Indel (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
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 6792	NM_001360.3(DHCR7):c.1342G>A (p.Glu448Lys)	DHCR7 (E448K)	Single nucleotide variant (missense variant)	not provided +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 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 1066741	NM_001360.3(DHCR7):c.1328G>T (p.Arg443Leu)	DHCR7 (R443L)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely 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 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 93708	NM_001360.3(DHCR7):c.1272C>T (p.Gly424=)	DHCR7	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
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 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 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 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 3364887	NM_001360.3(DHCR7):c.1205T>C (p.Val402Ala)	DHCR7 (V344A +7 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 594428	NM_001360.3(DHCR7):c.1168C>T (p.His390Tyr)	DHCR7 (H390Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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 provided +3 more	GBenign
Select item 1223840	NM_001360.3(DHCR7):c.1143C>T (p.Ser381=)	DHCR7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3340343	NM_001360.3(DHCR7):c.1135G>A (p.Glu379Lys)	DHCR7 (E321K +5 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 514353	NM_001360.3(DHCR7):c.1134C>T (p.Ile378=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome +1 more	GLikely benign
Select item 166985	NM_001360.3(DHCR7):c.1092G>A (p.Thr364=)	DHCR7	Single nucleotide variant (synonymous variant)	not provided +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 +3 more	GConflicting classifications of pathogenicity
Select item 427052	NM_001360.3(DHCR7):c.1090A>G (p.Thr364Ala)	DHCR7 (T364A)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 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 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 93706	NM_001360.3(DHCR7):c.1012G>A (p.Val338Met)	DHCR7 (V338M)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +3 more	GConflicting classifications of pathogenicity
Select item 384536	NM_001360.3(DHCR7):c.1011C>T (p.Ala337=)	DHCR7	Single nucleotide variant (synonymous variant)	not provided +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 2444619	NM_001360.3(DHCR7):c.998C>T (p.Ser333Phe)	DHCR7 (S333F)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 588352	NM_001360.3(DHCR7):c.987C>T (p.Pro329=)	DHCR7	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 1135355	NM_001360.3(DHCR7):c.964-10C>T	DHCR7	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1177469	NM_001360.3(DHCR7):c.964-67C>T	DHCR7	Single nucleotide variant (intron variant)	Smith-Lemli-Opitz syndrome +1 more	GBenign
Select item 1203714	NM_001360.3(DHCR7):c.964-272_964-271dup	DHCR7	Duplication (intron variant)	not provided	GLikely benign
Select item 289153	NM_001360.3(DHCR7):c.927C>A (p.Gly309=)	DHCR7	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 198772	NM_001360.3(DHCR7):c.906C>T (p.Phe302=)	DHCR7	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 595087	NM_001360.3(DHCR7):c.902A>G (p.His301Arg)	DHCR7 (H301R)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +1 more	GPathogenic/Likely pathogenic
Select item 427053	NM_001360.3(DHCR7):c.889A>C (p.Ile297Leu)	DHCR7 (I297L)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 287781	NM_001360.3(DHCR7):c.855C>T (p.Phe285=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome +1 more	GConflicting classifications of pathogenicity
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 1314880	NM_001360.3(DHCR7):c.832G>C (p.Ala278Pro)	DHCR7 (A278P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1233901	NM_001360.3(DHCR7):c.832-77G>A	DHCR7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177470	NM_001360.3(DHCR7):c.832-80T>C	DHCR7	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1239782	NM_001360.3(DHCR7):c.832-148C>T	DHCR7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177471	NM_001360.3(DHCR7):c.831+69G>A	DHCR7	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
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 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 702010	NM_001360.3(DHCR7):c.765C>T (p.Phe255=)	DHCR7	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
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 710447	NM_001360.3(DHCR7):c.735C>T (p.Ile245=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome +2 more	GConflicting classifications of pathogenicity
Select item 287363	NM_001360.3(DHCR7):c.729C>T (p.Pro243=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome +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)	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 3364164	NM_001360.3(DHCR7):c.688G>A (p.Gly230Arg)	DHCR7 (G172R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 633186	NM_001360.3(DHCR7):c.651C>A (p.Tyr217Ter)	DHCR7 (Y217*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1297210	NM_001360.3(DHCR7):c.627-61G>A	DHCR7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219003	NM_001360.3(DHCR7):c.627-71G>A	DHCR7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673331	NM_001360.3(DHCR7):c.627-88G>A	DHCR7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673954	NM_001360.3(DHCR7):c.627-118G>A	DHCR7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 679282	NM_001360.3(DHCR7):c.627-167G>A	DHCR7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186463	NM_001360.3(DHCR7):c.626+126_626+128del	DHCR7	Deletion (intron variant)	not provided	GLikely benign
Select item 1211416	NM_001360.3(DHCR7):c.626+67T>C	DHCR7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 93721	NM_001360.3(DHCR7):c.626+15G>A	DHCR7	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1310330	NM_001360.3(DHCR7):c.625T>C (p.Cys209Arg)	DHCR7 (C209R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2663369	NM_001360.3(DHCR7):c.592A>G (p.Lys198Glu)	DHCR7 (K140E +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 198131	NM_001360.3(DHCR7):c.582C>T (p.Phe194=)	DHCR7	Single nucleotide variant (synonymous variant)	Smith-Lemli-Opitz syndrome +1 more	GConflicting classifications of pathogenicity
Select item 595482	NM_001360.3(DHCR7):c.571G>A (p.Val191Ile)	DHCR7 (V191I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 305957	NM_001360.3(DHCR7):c.570C>T (p.Ala190=)	DHCR7	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign

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