"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "DHCR7"[gen - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 881160	NM_001360.3(DHCR7):c.*226C>T	DHCR7	Single nucleotide variant (3 prime UTR variant)	Smith-Lemli-Opitz syndrome +1 more	GConflicting classifications of pathogenicity
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 2642105	NM_001360.3(DHCR7):c.1380G>A (p.Glu460=)	DHCR7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 93710	NM_001360.3(DHCR7):c.1368C>T (p.Gly456=)	DHCR7	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2570805	NM_001360.3(DHCR7):c.1350C>G (p.Arg450=)	DHCR7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 652894	NM_001360.3(DHCR7):c.1349_1350delinsTG (p.Arg450Leu)	DHCR7 (R450L)	Indel (missense variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 93709	NM_001360.3(DHCR7):c.1341C>T (p.Asp447=)	DHCR7	Single nucleotide variant (synonymous variant)	DHCR7-related condition +4 more	GBenign/Likely benign
Select item 199067	NM_001360.3(DHCR7):c.1270G>A (p.Gly424Ser)	DHCR7 (G424S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1647191	NM_001360.3(DHCR7):c.1254C>T (p.Tyr418=)	DHCR7	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1675468	NM_001360.3(DHCR7):c.1211G>A (p.Arg404His)	DHCR7 (R404H)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +1 more	GLikely pathogenic
Select item 189069	NM_001360.3(DHCR7):c.1139G>A (p.Cys380Tyr)	DHCR7 (C380Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 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)	DHCR7-related condition +5 more	GPathogenic/Likely pathogenic
Select item 3025192	NM_001360.3(DHCR7):c.963+30G>A	DHCR7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 198772	NM_001360.3(DHCR7):c.906C>T (p.Phe302=)	DHCR7	Single nucleotide variant (synonymous variant)	DHCR7-related condition +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	GConflicting classifications of pathogenicity
Select item 287363	NM_001360.3(DHCR7):c.729C>T (p.Pro243=)	DHCR7	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 445437	NM_001360.3(DHCR7):c.719A>G (p.Asn240Ser)	DHCR7 (N240S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 916150	NM_001360.3(DHCR7):c.507G>A (p.Ser169=)	DHCR7	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 21273	NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter)	DHCR7 (W151*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +7 more	GPathogenic/Likely pathogenic
Select item 197726	NM_001360.3(DHCR7):c.399C>T (p.Ala133=)	DHCR7	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 93717	NM_001360.3(DHCR7):c.321+10C>T	DHCR7	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 501852	NM_001360.3(DHCR7):c.288C>T (p.Ala96=)	DHCR7	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 93714	NM_001360.3(DHCR7):c.199G>A (p.Ala67Thr)	DHCR7 (A67T)	Single nucleotide variant (missense variant)	DHCR7-related condition +4 more	GConflicting classifications of pathogenicity
Select item 528376	NM_001360.3(DHCR7):c.159C>T (p.Ile53=)	DHCR7	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 166620	NM_001360.3(DHCR7):c.126C>T (p.Ser42=)	DHCR7	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 93726	NM_001360.3(DHCR7):c.99-4G>A	NADSYN1, DHCR7	Single nucleotide variant (intron variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 397518	NM_001360.3(DHCR7):c.89G>C (p.Gly30Ala)	DHCR7 (G30A)	Single nucleotide variant (missense variant)	Smith-Lemli-Opitz syndrome +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 305967	NM_001360.3(DHCR7):c.-195G>T	DHCR7	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity

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Items: 30