ClinVar for Gene (Select 79644) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3367078	NM_024592.5(SRD5A3):c.943C>T (p.Pro315Ser)	SRD5A3, SRD5A3-AS1 (P270S +1 more)	Single nucleotide variant (missense variant)	SRD5A3-congenital disorder of glycosylation	GUncertain significance
Select item 3363561	NM_024592.5(SRD5A3):c.258G>A (p.Trp86Ter)	SRD5A3 (W86*)	Single nucleotide variant (nonsense)	not provided	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
Select item 3322595	NM_024592.5(SRD5A3):c.508T>C (p.Tyr170His)	SRD5A3 (Y170H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3322594	NM_024592.5(SRD5A3):c.188C>T (p.Pro63Leu)	SRD5A3 (P63L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257340	NM_024592.5(SRD5A3):c.324T>A (p.Leu108=)	SRD5A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3246588	NC_000004.11:g.(?_55124936)_(57786056_?)del	AASDH, ARL9 +18 more	Deletion	Gastrointestinal stromal tumor	GPathogenic
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 3169892	NM_024592.5(SRD5A3):c.64C>G (p.Leu22Val)	SRD5A3 (L22V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3032609	NM_024592.5(SRD5A3):c.720C>T (p.His240=)	SRD5A3, SRD5A3-AS1	Single nucleotide variant (synonymous variant)	SRD5A3-related disorder	GLikely benign
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
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 2920119	NM_024592.5(SRD5A3):c.222-19G>C	SRD5A3	Single nucleotide variant (intron variant)	SRD5A3-congenital disorder of glycosylation	GLikely benign
Select item 2854466	NM_024592.5(SRD5A3):c.563-16A>C	SRD5A3, SRD5A3-AS1	Single nucleotide variant (intron variant)	SRD5A3-congenital disorder of glycosylation	GLikely benign
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 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 2738215	NM_024592.5(SRD5A3):c.918C>T (p.Tyr306=)	SRD5A3, SRD5A3-AS1	Single nucleotide variant (synonymous variant)	SRD5A3-congenital disorder of glycosylation	GLikely benign
Select item 2685969	GRCh37/hg19 4q12(chr4:56169506-56780835)x3	CLOCK, EXOC1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2685108	GRCh37/hg19 4q11-13.1(chr4:52685685-61903883)x1	AASDH, ARL9 +36 more	Copy number loss	not provided	GPathogenic
Select item 2685038	GRCh37/hg19 4q12(chr4:55517082-56227984)x4	KDR, KIT +1 more	Copy number gain	not provided	GUncertain significance
Select item 2681564	NM_024592.5(SRD5A3):c.547A>T (p.Met183Leu)	SRD5A3 (M183L)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2630646	NM_024592.5(SRD5A3):c.445_446dup (p.Val150fs)	SRD5A3 (V150fs)	Duplication (frameshift variant)	SRD5A3-related disorder	GLikely pathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
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 2571874	NM_024592.5(SRD5A3):c.176dup (p.Pro60fs)	SRD5A3 (P60fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2571204	NM_024592.5(SRD5A3):c.758C>T (p.Ser253Phe)	SRD5A3, SRD5A3-AS1 (S208F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2559973	NM_024592.5(SRD5A3):c.214C>G (p.Pro72Ala)	SRD5A3 (P72A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2485962	NM_024592.5(SRD5A3):c.177G>C (p.Glu59Asp)	SRD5A3 (E59D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472057	NM_024592.5(SRD5A3):c.810T>A (p.Phe270Leu)	SRD5A3, SRD5A3-AS1 (F225L +1 more)	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 2429406	NM_024592.5(SRD5A3):c.256T>C (p.Trp86Arg)	SRD5A3 (W86R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2426476	NC_000004.11:g.(?_55124936)_(57368027_?)del	AASDH, CEP135 +13 more	Deletion	not provided	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 2327750	NM_024592.5(SRD5A3):c.47G>A (p.Arg16His)	SRD5A3 (R16H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2294913	NM_024592.5(SRD5A3):c.491G>A (p.Cys164Tyr)	SRD5A3 (C164Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271557	NM_024592.5(SRD5A3):c.509A>G (p.Tyr170Cys)	SRD5A3 (Y170C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2228638	NM_024592.5(SRD5A3):c.686A>G (p.Lys229Arg)	SRD5A3, SRD5A3-AS1 (K229R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2197646	NM_024592.5(SRD5A3):c.598C>T (p.Arg200Trp)	SRD5A3, SRD5A3-AS1 (R200W)	Single nucleotide variant (missense variant)	SRD5A3-congenital disorder of glycosylation	GUncertain significance
Select item 2190927	NM_024592.5(SRD5A3):c.586T>C (p.Leu196=)	SRD5A3, SRD5A3-AS1	Single nucleotide variant (synonymous variant +1 more)	SRD5A3-congenital disorder of glycosylation	GLikely benign
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 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 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 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 2159196	NM_024592.5(SRD5A3):c.182C>G (p.Ser61Trp)	SRD5A3 (S61W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 2146662	NM_024592.5(SRD5A3):c.222-20C>T	SRD5A3	Single nucleotide variant (intron variant)	SRD5A3-congenital disorder of glycosylation	GLikely benign
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 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 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 2061889	NM_024592.5(SRD5A3):c.697+13T>C	SRD5A3, SRD5A3-AS1	Single nucleotide variant (intron variant)	SRD5A3-congenital disorder of glycosylation	GLikely benign
Select item 2042950	NM_024592.5(SRD5A3):c.627G>A (p.Met209Ile)	SRD5A3, SRD5A3-AS1 (M209I)	Single nucleotide variant (missense variant)	SRD5A3-congenital disorder of glycosylation	GLikely benign
Select item 2003329	NM_024592.5(SRD5A3):c.751G>C (p.Val251Leu)	SRD5A3, SRD5A3-AS1 (V206L +1 more)	Single nucleotide variant (missense variant)	SRD5A3-congenital disorder of glycosylation	GUncertain significance
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 1947261	NM_024592.5(SRD5A3):c.927T>C (p.His309=)	SRD5A3, SRD5A3-AS1	Single nucleotide variant (synonymous variant)	SRD5A3-congenital disorder of glycosylation	GLikely benign
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 1897522	NM_024592.5(SRD5A3):c.789C>T (p.Tyr263=)	SRD5A3, SRD5A3-AS1	Single nucleotide variant (synonymous variant)	SRD5A3-congenital disorder of glycosylation	GLikely benign
Select item 1808462	GRCh37/hg19 4q11-12(chr4:52685980-59272025)x3	AASDH, ARL9 +36 more	Copy number gain	not provided	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 1703552	GRCh37/hg19 4q12(chr4:53688710-56491447)	CHIC2, CLOCK +12 more	Copy number loss	Piebaldism	GPathogenic
Select item 1686229	NM_024592.5(SRD5A3):c.697+1G>C	SRD5A3, SRD5A3-AS1	Single nucleotide variant (splice donor variant +1 more)	SRD5A3-congenital disorder of glycosylation	GConflicting classifications of pathogenicity
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 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 1558497	NM_024592.5(SRD5A3):c.942A>G (p.Leu314=)	SRD5A3, SRD5A3-AS1	Single nucleotide variant (synonymous variant)	SRD5A3-congenital disorder of glycosylation	GLikely benign
Select item 1504951	NM_024592.5(SRD5A3):c.920C>T (p.Pro307Leu)	SRD5A3, SRD5A3-AS1 (P307L)	Single nucleotide variant (missense variant)	SRD5A3-congenital disorder of glycosylation	GUncertain significance
Select item 1493747	NM_024592.5(SRD5A3):c.633C>G (p.Ile211Met)	SRD5A3, SRD5A3-AS1 (I211M)	Single nucleotide variant (missense variant)	SRD5A3-congenital disorder of glycosylation	GUncertain significance
Select item 1490042	NM_024592.5(SRD5A3):c.517G>A (p.Val173Ile)	SRD5A3 (V173I)	Single nucleotide variant (missense variant)	SRD5A3-congenital disorder of glycosylation	GUncertain significance
Select item 1456803	NC_000004.11:g.(?_56225493)_(56225675_?)del	SRD5A3	Deletion	SRD5A3-congenital disorder of glycosylation	GPathogenic
Select item 1433363	NC_000004.11:g.(?_55124936)_(57798318_?)dup	AASDH, ARL9 +18 more	Duplication	TMEM165-congenital disorder of glycosylation	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 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 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 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 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 1366417	NM_024592.5(SRD5A3):c.613C>T (p.Leu205Phe)	SRD5A3, SRD5A3-AS1 (L205F)	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 1343405	NM_024592.4:c.(221+1_222-1)_(697+1_698-1)dup	SRD5A3	Duplication	SRD5A3-congenital disorder of glycosylation	GLikely pathogenic
Select item 1340920	GRCh37/hg19 4q11-12(chr4:52685685-58104722)x1	AASDH, ARL9 +36 more	Copy number loss	not provided	GPathogenic
Select item 1340288	GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	AASDH, ABCG2 +359 more	Copy number gain	not provided	GPathogenic
Select item 1312107	NM_024592.5(SRD5A3):c.869T>C (p.Leu290Pro)	SRD5A3, SRD5A3-AS1 (L290P)	Single nucleotide variant (missense variant)	SRD5A3-congenital disorder of glycosylation +1 more	GUncertain significance
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 1305174	NM_024592.5(SRD5A3):c.38A>C (p.Asn13Thr)	SRD5A3 (N13T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1293404	NM_024592.5(SRD5A3):c.697+225G>A	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 1274243	NM_024592.5(SRD5A3):c.562+295dup	SRD5A3	Duplication (intron variant)	not provided	GBenign
Select item 1266655	NM_024592.5(SRD5A3):c.563-203T>G	SRD5A3, SRD5A3-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258957	NC_000004.12:g.55346210_55346227dup	SRD5A3	Duplication	not provided	GBenign
Select item 1252403	NM_024592.5(SRD5A3):c.222-160G>A	SRD5A3	Single nucleotide variant (intron variant)	not provided	GBenign
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 1226140	NM_024592.5(SRD5A3):c.698-85del	SRD5A3, SRD5A3-AS1	Deletion (intron variant)	not provided	GBenign
Select item 1220172	NM_024592.5(SRD5A3):c.364+28G>T	SRD5A3	Single nucleotide variant (intron variant)	not provided	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 1218145	NM_024592.5(SRD5A3):c.563-331T>C	SRD5A3, SRD5A3-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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