SRD5A3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 57074	GRCh38/hg38 4p13-q13.1(chr4:44356201-62245882)x3	AASDH, ADGRL3 +244 more	Copy number gain	See cases	GPathogenic
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 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	LOC110120745, LOC129992610 +360 more	Copy number loss	Piebaldism	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 349002	NM_024592.4(SRD5A3):c.-100C>G	SRD5A3	Single nucleotide variant	Congenital disorder of glycosylation	GUncertain significance
Select item 349003	NM_024592.5(SRD5A3):c.-84G>C	SRD5A3	Single nucleotide variant (5 prime UTR variant)	SRD5A3-congenital disorder of glycosylation	GUncertain significance
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 349005	NM_024592.5(SRD5A3):c.-30C>A	SRD5A3	Single nucleotide variant (5 prime UTR variant)	SRD5A3-congenital disorder of glycosylation	GUncertain significance
Select item 903281	NM_024592.5(SRD5A3):c.-27G>T	SRD5A3	Single nucleotide variant (5 prime UTR variant)	SRD5A3-congenital disorder of glycosylation	GUncertain significance
Select item 388731	NM_024592.5(SRD5A3):c.-6C>T	SRD5A3	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 903282	NM_024592.5(SRD5A3):c.2T>C (p.Met1Thr)	SRD5A3 (M1T)	Single nucleotide variant (missense variant +1 more)	SRD5A3-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2299459	NM_024592.5(SRD5A3):c.7C>T (p.Pro3Ser)	SRD5A3 (P3S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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)	not provided +1 more	GUncertain significance
Select item 18408	NM_024592.5(SRD5A3):c.29C>A (p.Ser10Ter)	SRD5A3 (S10*)	Single nucleotide variant (nonsense)	SRD5A3-congenital disorder of glycosylation	GPathogenic
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)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2327750	NM_024592.5(SRD5A3):c.47G>A (p.Arg16His)	SRD5A3 (R16H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2446387	NM_024592.5(SRD5A3):c.50_60del (p.Ala17fs)	SRD5A3 (A17fs)	Deletion (frameshift variant)	SRD5A3-congenital disorder of glycosylation	GPathogenic
Select item 432432	NM_024592.5(SRD5A3):c.50C>T (p.Ala17Val)	SRD5A3 (A17V)	Single nucleotide variant (missense variant)	SRD5A3-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 193455	NM_024592.5(SRD5A3):c.51G>T (p.Ala17=)	SRD5A3	Single nucleotide variant (synonymous variant)	SRD5A3-congenital disorder of glycosylation +3 more	GConflicting classifications of pathogenicity
Select item 2181936	NM_024592.5(SRD5A3):c.56G>T (p.Trp19Leu)	SRD5A3 (W19L)	Single nucleotide variant (missense variant)	SRD5A3-congenital disorder of glycosylation	GUncertain significance
Select item 96125	NM_024592.5(SRD5A3):c.57G>A (p.Trp19Ter)	SRD5A3 (W19*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 2172902	NM_024592.5(SRD5A3):c.63G>A (p.Thr21=)	SRD5A3	Single nucleotide variant (synonymous variant)	SRD5A3-congenital disorder of glycosylation	GLikely benign
Select item 3169892	NM_024592.5(SRD5A3):c.64C>G (p.Leu22Val)	SRD5A3 (L22V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3169893	NM_024592.5(SRD5A3):c.65T>G (p.Leu22Arg)	SRD5A3 (L22R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 423433	NM_024592.5(SRD5A3):c.66del (p.Thr23fs)	SRD5A3 (T23fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1044387	NM_024592.5(SRD5A3):c.77T>G (p.Phe26Cys)	SRD5A3 (F26C)	Single nucleotide variant (missense variant)	SRD5A3-congenital disorder of glycosylation	GUncertain significance
Select item 2119453	NM_024592.5(SRD5A3):c.83T>G (p.Leu28Arg)	SRD5A3 (L28R)	Single nucleotide variant (missense variant)	SRD5A3-congenital disorder of glycosylation	GUncertain significance
Select item 1395294	NM_024592.5(SRD5A3):c.100C>G (p.Leu34Val)	SRD5A3 (L34V)	Single nucleotide variant (missense variant)	SRD5A3-congenital disorder of glycosylation	GUncertain significance
Select item 703104	NM_024592.5(SRD5A3):c.108G>T (p.Pro36=)	SRD5A3	Single nucleotide variant (synonymous variant)	SRD5A3-congenital disorder of glycosylation	GConflicting classifications of pathogenicity
Select item 349006	NM_024592.5(SRD5A3):c.110C>T (p.Pro37Leu)	SRD5A3 (P37L)	Single nucleotide variant (missense variant)	SRD5A3-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3169891	NM_024592.5(SRD5A3):c.112G>A (p.Gly38Ser)	SRD5A3 (G38S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2992844	NM_024592.5(SRD5A3):c.114C>T (p.Gly38=)	SRD5A3	Single nucleotide variant (synonymous variant)	SRD5A3-congenital disorder of glycosylation	GLikely benign
Select item 1407595	NM_024592.5(SRD5A3):c.123G>A (p.Pro41=)	SRD5A3	Single nucleotide variant (synonymous variant)	SRD5A3-congenital disorder of glycosylation	GLikely benign
Select item 903283	NM_024592.5(SRD5A3):c.124G>A (p.Gly42Ser)	SRD5A3 (G42S)	Single nucleotide variant (missense variant)	SRD5A3-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 903284	NM_024592.5(SRD5A3):c.126C>G (p.Gly42=)	SRD5A3	Single nucleotide variant (synonymous variant)	SRD5A3-congenital disorder of glycosylation	GUncertain significance
Select item 579047	NM_024592.5(SRD5A3):c.140A>G (p.Gln47Arg)	SRD5A3 (Q47R)	Single nucleotide variant (missense variant)	SRD5A3-congenital disorder of glycosylation	GUncertain significance
Select item 2793871	NM_024592.5(SRD5A3):c.144C>T (p.Asp48=)	SRD5A3	Single nucleotide variant (synonymous variant)	SRD5A3-congenital disorder of glycosylation	GLikely benign
Select item 2571203	NM_024592.5(SRD5A3):c.152G>C (p.Arg51Pro)	SRD5A3 (R51P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1378184	NM_024592.5(SRD5A3):c.169T>C (p.Cys57Arg)	SRD5A3 (C57R)	Single nucleotide variant (missense variant)	SRD5A3-congenital disorder of glycosylation	GUncertain significance
Select item 1943754	NM_024592.5(SRD5A3):c.171T>C (p.Cys57=)	SRD5A3	Single nucleotide variant (synonymous variant)	SRD5A3-congenital disorder of glycosylation	GLikely benign
Select item 2571874	NM_024592.5(SRD5A3):c.176dup (p.Pro60fs)	SRD5A3 (P60fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2485962	NM_024592.5(SRD5A3):c.177G>C (p.Glu59Asp)	SRD5A3 (E59D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2159196	NM_024592.5(SRD5A3):c.182C>G (p.Ser61Trp)	SRD5A3 (S61W)	Single nucleotide variant (missense variant)	SRD5A3-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 30929	NM_024592.5(SRD5A3):c.204dup (p.Phe69fs)	SRD5A3 (F69fs)	Duplication (frameshift variant)	Kahrizi syndrome	GPathogenic
Select item 2088346	NM_024592.5(SRD5A3):c.203C>A (p.Ala68Asp)	SRD5A3 (A68D)	Single nucleotide variant (missense variant)	SRD5A3-congenital disorder of glycosylation	GUncertain significance
Select item 2559973	NM_024592.5(SRD5A3):c.214C>G (p.Pro72Ala)	SRD5A3 (P72A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2831376	NM_024592.5(SRD5A3):c.221+7G>A	SRD5A3	Single nucleotide variant (intron variant)	SRD5A3-congenital disorder of glycosylation	GLikely benign
Select item 1104466	NM_024592.5(SRD5A3):c.221+10C>T	SRD5A3	Single nucleotide variant (intron variant)	SRD5A3-congenital disorder of glycosylation	GLikely benign
Select item 2157443	NM_024592.5(SRD5A3):c.221+13C>T	SRD5A3	Single nucleotide variant (intron variant)	SRD5A3-congenital disorder of glycosylation	GLikely benign
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 2146662	NM_024592.5(SRD5A3):c.222-20C>T	SRD5A3	Single nucleotide variant (intron variant)	SRD5A3-congenital disorder of glycosylation	GLikely benign
Select item 2920119	NM_024592.5(SRD5A3):c.222-19G>C	SRD5A3	Single nucleotide variant (intron variant)	SRD5A3-congenital disorder of glycosylation	GLikely benign
Select item 436860	NM_024592.5(SRD5A3):c.225T>C (p.Tyr75=)	SRD5A3	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 2065157	NM_024592.5(SRD5A3):c.243C>T (p.Ile81=)	SRD5A3	Single nucleotide variant (synonymous variant)	SRD5A3-congenital disorder of glycosylation	GLikely benign
Select item 2429406	NM_024592.5(SRD5A3):c.256T>C (p.Trp86Arg)	SRD5A3 (W86R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1417998	NM_024592.5(SRD5A3):c.262G>A (p.Gly88Ser)	SRD5A3 (G88S)	Single nucleotide variant (missense variant)	SRD5A3-congenital disorder of glycosylation	GUncertain significance
Select item 2237167	NM_024592.5(SRD5A3):c.263G>C (p.Gly88Ala)	SRD5A3 (G88A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1028324	NM_024592.5(SRD5A3):c.263G>T (p.Gly88Val)	SRD5A3 (G88V)	Single nucleotide variant (missense variant)	SRD5A3-congenital disorder of glycosylation	GUncertain significance
Select item 1362615	NM_024592.5(SRD5A3):c.279C>A (p.Cys93Ter)	SRD5A3 (C93*)	Single nucleotide variant (nonsense)	SRD5A3-congenital disorder of glycosylation	GPathogenic
Select item 18404	NM_024592.5(SRD5A3):c.286_288delinsTGAGTAAGGC (p.Gln96Ter)	SRD5A3 (Q96*)	Indel (nonsense)	SRD5A3-congenital disorder of glycosylation	GPathogenic
Select item 2356101	NM_024592.5(SRD5A3):c.307C>T (p.Pro103Ser)	SRD5A3 (P103S)	Single nucleotide variant (missense variant)	SRD5A3-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 18405	NM_024592.5(SRD5A3):c.320G>A (p.Trp107Ter)	SRD5A3 (W107*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 640304	NM_024592.5(SRD5A3):c.334C>T (p.Leu112Phe)	SRD5A3 (L112F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1716098	NM_024592.5(SRD5A3):c.344T>G (p.Leu115Arg)	SRD5A3 (L115R)	Single nucleotide variant (missense variant)	SRD5A3-congenital disorder of glycosylation	GUncertain significance
Select item 2172274	NM_024592.5(SRD5A3):c.345C>T (p.Leu115=)	SRD5A3	Single nucleotide variant (synonymous variant)	SRD5A3-congenital disorder of glycosylation	GLikely benign
Select item 2164698	NM_024592.5(SRD5A3):c.351G>A (p.Ala117=)	SRD5A3	Single nucleotide variant (synonymous variant)	SRD5A3-congenital disorder of glycosylation	GLikely benign
Select item 498853	NM_024592.5(SRD5A3):c.364G>T (p.Gly122Ter)	SRD5A3 (G122*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1956336	NM_024592.5(SRD5A3):c.364+18T>A	SRD5A3	Single nucleotide variant (intron variant)	SRD5A3-congenital disorder of glycosylation	GLikely benign
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 1660965	NM_024592.5(SRD5A3):c.365-19G>C	SRD5A3	Single nucleotide variant (intron variant)	SRD5A3-congenital disorder of glycosylation	GLikely benign
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 2173989	NM_024592.5(SRD5A3):c.390C>G (p.Phe130Leu)	SRD5A3 (F130L)	Single nucleotide variant (missense variant)	SRD5A3-congenital disorder of glycosylation	GUncertain significance
Select item 1028325	NM_024592.5(SRD5A3):c.416A>G (p.His139Arg)	SRD5A3 (H139R)	Single nucleotide variant (missense variant)	SRD5A3-congenital disorder of glycosylation	GUncertain significance
Select item 1587487	NM_024592.5(SRD5A3):c.423A>G (p.Leu141=)	SRD5A3	Single nucleotide variant (synonymous variant)	SRD5A3-congenital disorder of glycosylation	GLikely benign
Select item 18406	NM_024592.5(SRD5A3):c.424C>T (p.Arg142Ter)	SRD5A3 (R142*)	Single nucleotide variant (nonsense)	Abnormality of the nervous system	GPathogenic
Select item 1016815	NM_024592.5(SRD5A3):c.433T>C (p.Phe145Leu)	SRD5A3 (F145L)	Single nucleotide variant (missense variant)	SRD5A3-congenital disorder of glycosylation	GUncertain significance
Select item 717076	NM_024592.5(SRD5A3):c.435C>T (p.Phe145=)	SRD5A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 424422	NM_024592.5(SRD5A3):c.436G>A (p.Glu146Lys)	SRD5A3 (E146K)	Single nucleotide variant (missense variant)	SRD5A3-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 2630646	NM_024592.5(SRD5A3):c.445_446dup (p.Val150fs)	SRD5A3 (V150fs)	Duplication (frameshift variant)	SRD5A3-related disorder	GLikely pathogenic
Select item 390232	NM_024592.5(SRD5A3):c.444C>T (p.Leu148=)	SRD5A3	Single nucleotide variant (synonymous variant)	not specified +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 903285	NM_024592.5(SRD5A3):c.448G>A (p.Val150Ile)	SRD5A3 (V150I)	Single nucleotide variant (missense variant)	SRD5A3-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 349007	NM_024592.5(SRD5A3):c.464A>G (p.Asn155Ser)	SRD5A3 (N155S)	Single nucleotide variant (missense variant)	SRD5A3-congenital disorder of glycosylation	GUncertain significance

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