ClinVar for MedGen (Select 1392124) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 2446387	NM_024592.5(SRD5A3):c.50_60del (p.Ala17fs)	SRD5A3 (A17fs)	Deletion (frameshift variant)	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 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)	SRD5A3-congenital disorder of glycosylation +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 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 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 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)	not provided +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 1161424	NM_024592.5(SRD5A3):c.698-8C>T	SRD5A3, SRD5A3-AS1	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 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 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 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 1021878	NM_024592.5(SRD5A3):c.911T>C (p.Val304Ala)	SRD5A3, SRD5A3-AS1 (V304A)	Single nucleotide variant (missense variant)	SRD5A3-congenital disorder of glycosylation +1 more	GUncertain significance
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 905777	NM_024592.5(SRD5A3):c.*2983T>C	SRD5A3, SRD5A3-AS1	Single nucleotide variant (3 prime UTR variant)	SRD5A3-congenital disorder of glycosylation	GUncertain significance
Select item 903894	NM_024592.5(SRD5A3):c.*2950T>G	SRD5A3, SRD5A3-AS1	Single nucleotide variant (3 prime UTR variant)	SRD5A3-congenital disorder of glycosylation	GUncertain significance
Select item 903424	NM_024592.5(SRD5A3):c.*2950T>C	SRD5A3, SRD5A3-AS1	Single nucleotide variant (3 prime UTR variant)	SRD5A3-congenital disorder of glycosylation	GUncertain significance
Select item 903423	NM_024592.5(SRD5A3):c.*2884C>T	SRD5A3, SRD5A3-AS1	Single nucleotide variant (3 prime UTR variant)	SRD5A3-congenital disorder of glycosylation	GUncertain significance
Select item 903422	NM_024592.5(SRD5A3):c.*2641G>A	SRD5A3, SRD5A3-AS1	Single nucleotide variant (3 prime UTR variant)	SRD5A3-congenital disorder of glycosylation	GUncertain significance
Select item 903421	NM_024592.5(SRD5A3):c.*2637T>G	SRD5A3, SRD5A3-AS1	Single nucleotide variant (3 prime UTR variant)	SRD5A3-congenital disorder of glycosylation	GUncertain significance
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 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 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 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 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 902573	NM_024592.5(SRD5A3):c.*2437G>A	SRD5A3, SRD5A3-AS1	Single nucleotide variant (3 prime UTR variant)	SRD5A3-congenital disorder of glycosylation	GUncertain significance
Select item 902572	NM_024592.5(SRD5A3):c.*2306C>A	SRD5A3, SRD5A3-AS1	Single nucleotide variant (3 prime UTR variant)	SRD5A3-congenital disorder of glycosylation	GUncertain significance
Select item 902500	NM_024592.5(SRD5A3):c.*968C>T	SRD5A3, SRD5A3-AS1	Single nucleotide variant (3 prime UTR variant)	SRD5A3-congenital disorder of glycosylation	GBenign
Select item 902499	NM_024592.5(SRD5A3):c.*873A>G	SRD5A3, SRD5A3-AS1	Single nucleotide variant (3 prime UTR variant)	SRD5A3-congenital disorder of glycosylation	GUncertain significance
Select item 902498	NM_024592.5(SRD5A3):c.*812T>C	SRD5A3, SRD5A3-AS1	Single nucleotide variant (3 prime UTR variant)	SRD5A3-congenital disorder of glycosylation	GUncertain significance
Select item 902497	NM_024592.5(SRD5A3):c.*622C>T	SRD5A3, SRD5A3-AS1	Single nucleotide variant (3 prime UTR variant)	SRD5A3-congenital disorder of glycosylation	GUncertain significance
Select item 902496	NM_024592.5(SRD5A3):c.*621C>T	SRD5A3, SRD5A3-AS1	Single nucleotide variant (3 prime UTR variant)	SRD5A3-congenital disorder of glycosylation	GLikely benign
Select item 900903	NM_024592.5(SRD5A3):c.*2248G>A	SRD5A3, SRD5A3-AS1	Single nucleotide variant (3 prime UTR variant)	SRD5A3-congenital disorder of glycosylation	GUncertain significance
Select item 900902	NM_024592.5(SRD5A3):c.*2120T>G	SRD5A3, SRD5A3-AS1	Single nucleotide variant (3 prime UTR variant)	SRD5A3-congenital disorder of glycosylation	GUncertain significance
Select item 900823	NM_024592.5(SRD5A3):c.*594C>T	SRD5A3, SRD5A3-AS1	Single nucleotide variant (3 prime UTR variant)	SRD5A3-congenital disorder of glycosylation	GUncertain significance
Select item 900822	NM_024592.5(SRD5A3):c.*590C>T	SRD5A3, SRD5A3-AS1	Single nucleotide variant (3 prime UTR variant)	SRD5A3-congenital disorder of glycosylation	GUncertain significance
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 900820	NM_024592.5(SRD5A3):c.*242T>C	SRD5A3, SRD5A3-AS1	Single nucleotide variant (3 prime UTR variant)	SRD5A3-congenital disorder of glycosylation	GUncertain significance
Select item 899749	NM_024592.5(SRD5A3):c.*2022A>C	SRD5A3, SRD5A3-AS1	Single nucleotide variant (3 prime UTR variant)	SRD5A3-congenital disorder of glycosylation	GUncertain significance
Select item 899748	NM_024592.5(SRD5A3):c.*1665G>A	SRD5A3, SRD5A3-AS1	Single nucleotide variant (3 prime UTR variant)	SRD5A3-congenital disorder of glycosylation	GUncertain significance
Select item 899747	NM_024592.5(SRD5A3):c.*1624G>A	SRD5A3, SRD5A3-AS1	Single nucleotide variant (3 prime UTR variant)	SRD5A3-congenital disorder of glycosylation	GUncertain significance
Select item 899683	NM_024592.5(SRD5A3):c.934G>C (p.Ala312Pro)	SRD5A3, SRD5A3-AS1 (A312P)	Single nucleotide variant (missense variant)	SRD5A3-congenital disorder of glycosylation	GUncertain significance
Select item 899682	NM_024592.5(SRD5A3):c.802G>A (p.Val268Ile)	SRD5A3, SRD5A3-AS1 (V268I)	Single nucleotide variant (missense variant)	SRD5A3-congenital disorder of glycosylation	GUncertain significance
Select item 899681	NM_024592.5(SRD5A3):c.673G>A (p.Gly225Ser)	SRD5A3, SRD5A3-AS1 (G225S)	Single nucleotide variant (missense variant)	SRD5A3-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 856616	NM_024592.5(SRD5A3):c.821A>G (p.Asn274Ser)	SRD5A3, SRD5A3-AS1 (N274S)	Single nucleotide variant (missense variant)	SRD5A3-congenital disorder of glycosylation	GUncertain significance
Select item 804441	NM_024592.5(SRD5A3):c.484C>T (p.Gln162Ter)	SRD5A3 (Q162*)	Single nucleotide variant (nonsense)	SRD5A3-congenital disorder of glycosylation +1 more	GLikely pathogenic
Select item 720347	NM_024592.5(SRD5A3):c.837A>G (p.Leu279=)	SRD5A3, SRD5A3-AS1	Single nucleotide variant (synonymous variant)	SRD5A3-related disorder +1 more	GLikely benign
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 653690	NM_024592.5(SRD5A3):c.695C>A (p.Ala232Glu)	SRD5A3-AS1, SRD5A3 (A232E)	Single nucleotide variant (missense variant)	SRD5A3-congenital disorder of glycosylation	GUncertain significance
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 635322	NM_024592.5(SRD5A3):c.497G>A (p.Gly166Glu)	SRD5A3 (G166E)	Single nucleotide variant (missense variant)	SRD5A3-congenital disorder of glycosylation	GUncertain significance
Select item 632442	NM_024592.5(SRD5A3):c.951_955del (p.Phe318fs)	SRD5A3, SRD5A3-AS1 (F318fs)	Deletion (frameshift variant)	Inborn genetic diseases +6 more	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 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 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 424415	NM_024592.5(SRD5A3):c.562+3del	SRD5A3	Deletion (intron 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)	not specified +1 more	GLikely benign
Select item 389689	NM_024592.5(SRD5A3):c.672C>T (p.Leu224=)	SRD5A3, SRD5A3-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	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 382440	NM_024592.5(SRD5A3):c.365-15C>T	SRD5A3	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 349055	NM_024592.5(SRD5A3):c.*2984A>G	SRD5A3, SRD5A3-AS1	Single nucleotide variant (3 prime UTR variant)	SRD5A3-congenital disorder of glycosylation	GLikely benign

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