"GeneDx"[submitter] AND "SRD5A3"[gene] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 58028	GRCh38/hg38 4q12-13.2(chr4:51831622-66991489)x3	AASDH, ADGRL3 +177 more	Copy number gain	See cases	GPathogenic
Select item 58030	GRCh38/hg38 4q12-13.1(chr4:51899860-59984479)x3	LOC129992618, LOC129992619 +143 more	Copy number gain	See cases	GPathogenic
Select item 59423	GRCh38/hg38 4q12-13.1(chr4:52639018-59984479)x1	AASDH, ARL9 +136 more	Copy number loss	See cases	GPathogenic
Select item 59424	GRCh38/hg38 4q12-13.1(chr4:54198601-62270115)x1	AASDH, ADGRL3 +100 more	Copy number loss	See cases	GPathogenic
Select item 1196840	NC_000004.12:g.55346081T>C	SRD5A3	Single nucleotide variant	not provided	GLikely benign
Select item 1258957	NC_000004.12:g.55346210_55346227dup	SRD5A3	Duplication	not provided	GBenign
Select item 349004	NM_024592.5(SRD5A3):c.-40G>A	SRD5A3	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GBenign
Select item 388731	NM_024592.5(SRD5A3):c.-6C>T	SRD5A3	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 2574227	NM_024592.5(SRD5A3):c.20C>T (p.Ala7Val)	SRD5A3 (A7V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1385345	NM_024592.5(SRD5A3):c.22G>A (p.Glu8Lys)	SRD5A3 (E8K)	Single nucleotide variant (missense variant)	SRD5A3-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 1305174	NM_024592.5(SRD5A3):c.38A>C (p.Asn13Thr)	SRD5A3 (N13T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 193456	NM_024592.5(SRD5A3):c.43C>T (p.Leu15=)	SRD5A3	Single nucleotide variant (synonymous variant)	SRD5A3-congenital disorder of glycosylation +2 more	GConflicting classifications of pathogenicity
Select item 432432	NM_024592.5(SRD5A3):c.50C>T (p.Ala17Val)	SRD5A3 (A17V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 193455	NM_024592.5(SRD5A3):c.51G>T (p.Ala17=)	SRD5A3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 96125	NM_024592.5(SRD5A3):c.57G>A (p.Trp19Ter)	SRD5A3 (W19*)	Single nucleotide variant (nonsense)	SRD5A3-congenital disorder of glycosylation +3 more	GPathogenic
Select item 423433	NM_024592.5(SRD5A3):c.66del (p.Thr23fs)	SRD5A3 (T23fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 349006	NM_024592.5(SRD5A3):c.110C>T (p.Pro37Leu)	SRD5A3 (P37L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2571874	NM_024592.5(SRD5A3):c.176dup (p.Pro60fs)	SRD5A3 (P60fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1219181	NM_024592.5(SRD5A3):c.221+148C>T	SRD5A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200187	NM_024592.5(SRD5A3):c.221+168C>G	SRD5A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204516	NM_024592.5(SRD5A3):c.221+274C>T	SRD5A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1252403	NM_024592.5(SRD5A3):c.222-160G>A	SRD5A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3363561	NM_024592.5(SRD5A3):c.258G>A (p.Trp86Ter)	SRD5A3 (W86*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 383482	NM_024592.5(SRD5A3):c.364+19T>C	SRD5A3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1220172	NM_024592.5(SRD5A3):c.364+28G>T	SRD5A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214768	NM_024592.5(SRD5A3):c.364+142A>G	SRD5A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207684	NM_024592.5(SRD5A3):c.364+202G>T	SRD5A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1251081	NM_024592.5(SRD5A3):c.365-220G>A	SRD5A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245689	NM_024592.5(SRD5A3):c.365-183_365-167del	SRD5A3	Deletion (intron variant)	not provided	GBenign
Select item 382440	NM_024592.5(SRD5A3):c.365-15C>T	SRD5A3	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 385636	NM_024592.5(SRD5A3):c.365-6T>C	SRD5A3	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 424422	NM_024592.5(SRD5A3):c.436G>A (p.Glu146Lys)	SRD5A3 (E146K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 390232	NM_024592.5(SRD5A3):c.444C>T (p.Leu148=)	SRD5A3	Single nucleotide variant (synonymous variant)	SRD5A3-congenital disorder of glycosylation +1 more	GLikely benign
Select item 383067	NM_024592.5(SRD5A3):c.447C>T (p.Tyr149=)	SRD5A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2506565	NM_024592.5(SRD5A3):c.506A>G (p.Tyr169Cys)	SRD5A3 (Y169C)	Single nucleotide variant (missense variant)	SRD5A3-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 424415	NM_024592.5(SRD5A3):c.562+3del	SRD5A3	Deletion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1179425	NM_024592.5(SRD5A3):c.562+97G>A	SRD5A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274243	NM_024592.5(SRD5A3):c.562+295dup	SRD5A3	Duplication (intron variant)	not provided	GBenign
Select item 1218145	NM_024592.5(SRD5A3):c.563-331T>C	SRD5A3, SRD5A3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266655	NM_024592.5(SRD5A3):c.563-203T>G	SRD5A3, SRD5A3-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 212303	NM_024592.5(SRD5A3):c.566A>C (p.Tyr189Ser)	SRD5A3, SRD5A3-AS1 (Y189S)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1196871	NM_024592.5(SRD5A3):c.617G>T (p.Gly206Val)	SRD5A3, SRD5A3-AS1 (G206V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1215726	NM_024592.5(SRD5A3):c.645_670del (p.His216fs)	SRD5A3, SRD5A3-AS1 (H216fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 389689	NM_024592.5(SRD5A3):c.672C>T (p.Leu224=)	SRD5A3, SRD5A3-AS1	Single nucleotide variant (synonymous variant)	SRD5A3-congenital disorder of glycosylation +1 more	GLikely benign
Select item 1293404	NM_024592.5(SRD5A3):c.697+225G>A	SRD5A3, SRD5A3-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187174	NM_024592.5(SRD5A3):c.698-237G>T	SRD5A3, SRD5A3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676204	NM_024592.5(SRD5A3):c.698-139T>C	SRD5A3, SRD5A3-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291459	NM_024592.5(SRD5A3):c.698-86_698-85del	SRD5A3, SRD5A3-AS1	Deletion (intron variant)	not provided	GBenign
Select item 1226140	NM_024592.5(SRD5A3):c.698-85del	SRD5A3, SRD5A3-AS1	Deletion (intron variant)	not provided	GBenign
Select item 1194251	NM_024592.5(SRD5A3):c.698-96A>G	SRD5A3, SRD5A3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676206	NM_024592.5(SRD5A3):c.698-68C>G	SRD5A3, SRD5A3-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 265260	NM_024592.5(SRD5A3):c.744T>G (p.Phe248Leu)	SRD5A3-AS1, SRD5A3 (F248L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1307539	NM_024592.5(SRD5A3):c.825A>C (p.Leu275Phe)	SRD5A3, SRD5A3-AS1 (L275F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306193	NM_024592.5(SRD5A3):c.851T>G (p.Val284Gly)	SRD5A3, SRD5A3-AS1 (V284G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312107	NM_024592.5(SRD5A3):c.869T>C (p.Leu290Pro)	SRD5A3, SRD5A3-AS1 (L290P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 349008	NM_024592.5(SRD5A3):c.925C>G (p.His309Asp)	SRD5A3-AS1, SRD5A3 (H309D)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 632442	NM_024592.5(SRD5A3):c.951_955del (p.Phe318fs)	SRD5A3, SRD5A3-AS1 (F318fs)	Deletion (frameshift variant)	SRD5A3-congenital disorder of glycosylation +6 more	GUncertain significance
Select item 387772	NM_024592.5(SRD5A3):c.*6C>T	SRD5A3, SRD5A3-AS1	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 349009	NM_024592.5(SRD5A3):c.*70C>T	SRD5A3, SRD5A3-AS1	Single nucleotide variant (3 prime UTR variant)	SRD5A3-congenital disorder of glycosylation +1 more	GBenign
Select item 900821	NM_024592.5(SRD5A3):c.*275G>T	SRD5A3, SRD5A3-AS1	Single nucleotide variant (3 prime UTR variant)	SRD5A3-congenital disorder of glycosylation +1 more	GLikely benign
Select item 349013	NM_024592.5(SRD5A3):c.*311ACCGAAAA[1]	SRD5A3, SRD5A3-AS1	Microsatellite (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 349014	NM_024592.5(SRD5A3):c.*321C>T	SRD5A3, SRD5A3-AS1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 254024	GRCh37/hg19 4q12(chr4:56225485-56300646)x1	TMEM165, CLOCK +1 more	Copy number loss	See cases	GUncertain significance
Select item 3361007	NM_024592.5(SRD5A3):c.736G>T (p.Asp246Tyr)	SRD5A3 (D201Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 65