ClinVar for MedGen (Select 1392124) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25065651.	NM_024592.5(SRD5A3):c.506A>G (p.Tyr169Cys) GRCh37: Chr4:56230382 GRCh38: Chr4:55364215	SRD5A3	Y169C	SRD5A3-congenital disorder of glycosylation, not provided	Uncertain significance (Sep 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 24463872.	NM_024592.5(SRD5A3):c.50_60del (p.Ala17fs) GRCh37: Chr4:56212553-56212563 GRCh38: Chr4:55346386-55346396	SRD5A3	A17fs	SRD5A3-congenital disorder of glycosylation	Pathogenic	criteria provided, single submitter
Select item 23561013.	NM_024592.5(SRD5A3):c.307C>T (p.Pro103Ser) GRCh37: Chr4:56225598 GRCh38: Chr4:55359431	SRD5A3	P103S	SRD5A3-congenital disorder of glycosylation, Inborn genetic diseases	Uncertain significance (May 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21976464.	NM_024592.5(SRD5A3):c.598C>T (p.Arg200Trp) GRCh37: Chr4:56233790 GRCh38: Chr4:55367623	SRD5A3, SRD5A3-AS1	R200W	SRD5A3-congenital disorder of glycosylation	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 21909275.	NM_024592.5(SRD5A3):c.586T>C (p.Leu196=) GRCh37: Chr4:56233778 GRCh38: Chr4:55367611	SRD5A3, SRD5A3-AS1		SRD5A3-congenital disorder of glycosylation	Likely benign (Aug 12, 2022)	criteria provided, single submitter
Select item 21819366.	NM_024592.5(SRD5A3):c.56G>T (p.Trp19Leu) GRCh37: Chr4:56212559 GRCh38: Chr4:55346392	SRD5A3	W19L	SRD5A3-congenital disorder of glycosylation	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 21739897.	NM_024592.5(SRD5A3):c.390C>G (p.Phe130Leu) GRCh37: Chr4:56230266 GRCh38: Chr4:55364099	SRD5A3	F130L	SRD5A3-congenital disorder of glycosylation	Uncertain significance (Feb 9, 2022)	criteria provided, single submitter
Select item 21729028.	NM_024592.5(SRD5A3):c.63G>A (p.Thr21=) GRCh37: Chr4:56212566 GRCh38: Chr4:55346399	SRD5A3		SRD5A3-congenital disorder of glycosylation	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 21722749.	NM_024592.5(SRD5A3):c.345C>T (p.Leu115=) GRCh37: Chr4:56225636 GRCh38: Chr4:55359469	SRD5A3		SRD5A3-congenital disorder of glycosylation	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 216469810.	NM_024592.5(SRD5A3):c.351G>A (p.Ala117=) GRCh37: Chr4:56225642 GRCh38: Chr4:55359475	SRD5A3		SRD5A3-congenital disorder of glycosylation	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 215919611.	NM_024592.5(SRD5A3):c.182C>G (p.Ser61Trp) GRCh37: Chr4:56212685 GRCh38: Chr4:55346518	SRD5A3	S61W	Inborn genetic diseases, SRD5A3-congenital disorder of glycosylation	Uncertain significance (May 5, 2023)	criteria provided, multiple submitters, no conflicts
Select item 215744312.	NM_024592.5(SRD5A3):c.221+13C>T GRCh37: Chr4:56212737 GRCh38: Chr4:55346570	SRD5A3		SRD5A3-congenital disorder of glycosylation	Likely benign (Apr 6, 2022)	criteria provided, single submitter
Select item 214666213.	NM_024592.5(SRD5A3):c.222-20C>T GRCh37: Chr4:56225493 GRCh38: Chr4:55359326	SRD5A3		SRD5A3-congenital disorder of glycosylation	Likely benign (Jul 11, 2022)	criteria provided, single submitter
Select item 211945314.	NM_024592.5(SRD5A3):c.83T>G (p.Leu28Arg) GRCh37: Chr4:56212586 GRCh38: Chr4:55346419	SRD5A3	L28R	SRD5A3-congenital disorder of glycosylation	Uncertain significance (May 27, 2022)	criteria provided, single submitter
Select item 208834615.	NM_024592.5(SRD5A3):c.203C>A (p.Ala68Asp) GRCh37: Chr4:56212706 GRCh38: Chr4:55346539	SRD5A3	A68D	SRD5A3-congenital disorder of glycosylation	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 206515716.	NM_024592.5(SRD5A3):c.243C>T (p.Ile81=) GRCh37: Chr4:56225534 GRCh38: Chr4:55359367	SRD5A3		SRD5A3-congenital disorder of glycosylation	Likely benign (Aug 30, 2022)	criteria provided, single submitter
Select item 206188917.	NM_024592.5(SRD5A3):c.697+13T>C GRCh37: Chr4:56233902 GRCh38: Chr4:55367735	SRD5A3, SRD5A3-AS1		SRD5A3-congenital disorder of glycosylation	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 204295018.	NM_024592.5(SRD5A3):c.627G>A (p.Met209Ile) GRCh37: Chr4:56233819 GRCh38: Chr4:55367652	SRD5A3-AS1, SRD5A3	M209I	SRD5A3-congenital disorder of glycosylation	Likely benign (Oct 2, 2022)	criteria provided, single submitter
Select item 200332919.	NM_024592.5(SRD5A3):c.751G>C (p.Val251Leu) GRCh37: Chr4:56236052 GRCh38: Chr4:55369885	SRD5A3, SRD5A3-AS1	V206L, V251L	SRD5A3-congenital disorder of glycosylation	Uncertain significance (Jul 17, 2022)	criteria provided, single submitter
Select item 195633620.	NM_024592.5(SRD5A3):c.364+18T>A GRCh37: Chr4:56225673 GRCh38: Chr4:55359506	SRD5A3		SRD5A3-congenital disorder of glycosylation	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 194726121.	NM_024592.5(SRD5A3):c.927T>C (p.His309=) GRCh37: Chr4:56236228 GRCh38: Chr4:55370061	SRD5A3, SRD5A3-AS1		SRD5A3-congenital disorder of glycosylation	Likely benign (Jun 28, 2022)	criteria provided, single submitter
Select item 194375422.	NM_024592.5(SRD5A3):c.171T>C (p.Cys57=) GRCh37: Chr4:56212674 GRCh38: Chr4:55346507	SRD5A3		SRD5A3-congenital disorder of glycosylation	Likely benign (May 29, 2022)	criteria provided, single submitter
Select item 189752223.	NM_024592.5(SRD5A3):c.789C>T (p.Tyr263=) GRCh37: Chr4:56236090 GRCh38: Chr4:55369923	SRD5A3, SRD5A3-AS1		SRD5A3-congenital disorder of glycosylation	Likely benign (May 16, 2022)	criteria provided, single submitter
Select item 171609824.	NM_024592.5(SRD5A3):c.344T>G (p.Leu115Arg) GRCh37: Chr4:56225635 GRCh38: Chr4:55359468	SRD5A3	L115R	SRD5A3-congenital disorder of glycosylation	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 168622925.	NM_024592.5(SRD5A3):c.697+1G>C GRCh37: Chr4:56233890 GRCh38: Chr4:55367723	SRD5A3, SRD5A3-AS1		SRD5A3-congenital disorder of glycosylation	Conflicting interpretations of pathogenicity (Jun 5, 2022)	criteria provided, conflicting interpretations
Select item 166096526.	NM_024592.5(SRD5A3):c.365-19G>C GRCh37: Chr4:56230222 GRCh38: Chr4:55364055	SRD5A3		SRD5A3-congenital disorder of glycosylation	Likely benign (Jul 24, 2022)	criteria provided, single submitter
Select item 158748727.	NM_024592.5(SRD5A3):c.423A>G (p.Leu141=) GRCh37: Chr4:56230299 GRCh38: Chr4:55364132	SRD5A3		SRD5A3-congenital disorder of glycosylation	Likely benign (Sep 3, 2021)	criteria provided, single submitter
Select item 155849728.	NM_024592.5(SRD5A3):c.942A>G (p.Leu314=) GRCh37: Chr4:56236243 GRCh38: Chr4:55370076	SRD5A3, SRD5A3-AS1		SRD5A3-congenital disorder of glycosylation	Likely benign (Nov 24, 2021)	criteria provided, single submitter
Select item 150495129.	NM_024592.5(SRD5A3):c.920C>T (p.Pro307Leu) GRCh37: Chr4:56236221 GRCh38: Chr4:55370054	SRD5A3-AS1, SRD5A3	P307L	SRD5A3-congenital disorder of glycosylation	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 149374730.	NM_024592.5(SRD5A3):c.633C>G (p.Ile211Met) GRCh37: Chr4:56233825 GRCh38: Chr4:55367658	SRD5A3, SRD5A3-AS1	I211M	SRD5A3-congenital disorder of glycosylation	Uncertain significance (Aug 20, 2021)	criteria provided, single submitter
Select item 149004231.	NM_024592.5(SRD5A3):c.517G>A (p.Val173Ile) GRCh37: Chr4:56230393 GRCh38: Chr4:55364226	SRD5A3	V173I	SRD5A3-congenital disorder of glycosylation	Uncertain significance (Aug 13, 2022)	criteria provided, single submitter
Select item 145680332.	NC_000004.11:g.(?_56225493)_(56225675_?)del GRCh37: Chr4:56225493-56225675	SRD5A3		SRD5A3-congenital disorder of glycosylation	Pathogenic (Jul 19, 2022)	criteria provided, single submitter
Select item 141799833.	NM_024592.5(SRD5A3):c.262G>A (p.Gly88Ser) GRCh37: Chr4:56225553 GRCh38: Chr4:55359386	SRD5A3	G88S	SRD5A3-congenital disorder of glycosylation	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 140759534.	NM_024592.5(SRD5A3):c.123G>A (p.Pro41=) GRCh37: Chr4:56212626 GRCh38: Chr4:55346459	SRD5A3		SRD5A3-congenital disorder of glycosylation	Uncertain significance (Sep 16, 2021)	criteria provided, single submitter
Select item 139529435.	NM_024592.5(SRD5A3):c.100C>G (p.Leu34Val) GRCh37: Chr4:56212603 GRCh38: Chr4:55346436	SRD5A3	L34V	SRD5A3-congenital disorder of glycosylation	Uncertain significance (Nov 27, 2021)	criteria provided, single submitter
Select item 138534536.	NM_024592.5(SRD5A3):c.22G>A (p.Glu8Lys) GRCh37: Chr4:56212525 GRCh38: Chr4:55346358	SRD5A3	E8K	SRD5A3-congenital disorder of glycosylation, not provided	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 137818437.	NM_024592.5(SRD5A3):c.169T>C (p.Cys57Arg) GRCh37: Chr4:56212672 GRCh38: Chr4:55346505	SRD5A3	C57R	SRD5A3-congenital disorder of glycosylation	Uncertain significance (Sep 17, 2021)	criteria provided, single submitter
Select item 136641738.	NM_024592.5(SRD5A3):c.613C>T (p.Leu205Phe) GRCh37: Chr4:56233805 GRCh38: Chr4:55367638	SRD5A3, SRD5A3-AS1	L205F	SRD5A3-congenital disorder of glycosylation	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 136261539.	NM_024592.5(SRD5A3):c.279C>A (p.Cys93Ter) GRCh37: Chr4:56225570 GRCh38: Chr4:55359403	SRD5A3	C93*	SRD5A3-congenital disorder of glycosylation	Pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 134340540.	NM_024592.4:c.(221+1_222-1)_(697+1_698-1)dup	SRD5A3		SRD5A3-congenital disorder of glycosylation	Likely pathogenic (Jun 28, 2021)	no assertion criteria provided
Select item 116142441.	NM_024592.5(SRD5A3):c.698-8C>T GRCh37: Chr4:56235991 GRCh38: Chr4:55369824	SRD5A3, SRD5A3-AS1		SRD5A3-congenital disorder of glycosylation	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 110446642.	NM_024592.5(SRD5A3):c.221+10C>T GRCh37: Chr4:56212734 GRCh38: Chr4:55346567	SRD5A3		SRD5A3-congenital disorder of glycosylation	Likely benign (Aug 29, 2022)	criteria provided, single submitter
Select item 104438743.	NM_024592.5(SRD5A3):c.77T>G (p.Phe26Cys) GRCh37: Chr4:56212580 GRCh38: Chr4:55346413	SRD5A3	F26C	SRD5A3-congenital disorder of glycosylation	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 102832544.	NM_024592.5(SRD5A3):c.416A>G (p.His139Arg) GRCh37: Chr4:56230292 GRCh38: Chr4:55364125	SRD5A3	H139R	SRD5A3-congenital disorder of glycosylation	Uncertain significance (Sep 19, 2020)	criteria provided, single submitter
Select item 102832445.	NM_024592.5(SRD5A3):c.263G>T (p.Gly88Val) GRCh37: Chr4:56225554 GRCh38: Chr4:55359387	SRD5A3	G88V	SRD5A3-congenital disorder of glycosylation	Uncertain significance (Jul 8, 2019)	criteria provided, single submitter
Select item 102187846.	NM_024592.5(SRD5A3):c.911T>C (p.Val304Ala) GRCh37: Chr4:56236212 GRCh38: Chr4:55370045	SRD5A3, SRD5A3-AS1	V304A	Kahrizi syndrome, SRD5A3-congenital disorder of glycosylation, SRD5A3-congenital disorder of glycosylation	Uncertain significance (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 101681547.	NM_024592.5(SRD5A3):c.433T>C (p.Phe145Leu) GRCh37: Chr4:56230309 GRCh38: Chr4:55364142	SRD5A3	F145L	SRD5A3-congenital disorder of glycosylation	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 90577748.	NM_024592.5(SRD5A3):c.*2983T>C GRCh37: Chr4:56239241 GRCh38: Chr4:55373074	SRD5A3, SRD5A3-AS1		SRD5A3-congenital disorder of glycosylation	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90389449.	NM_024592.5(SRD5A3):c.*2950T>G GRCh37: Chr4:56239208 GRCh38: Chr4:55373041	SRD5A3, SRD5A3-AS1		SRD5A3-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90342450.	NM_024592.5(SRD5A3):c.*2950T>C GRCh37: Chr4:56239208 GRCh38: Chr4:55373041	SRD5A3, SRD5A3-AS1		SRD5A3-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90342351.	NM_024592.5(SRD5A3):c.*2884C>T GRCh37: Chr4:56239142 GRCh38: Chr4:55372975	SRD5A3, SRD5A3-AS1		SRD5A3-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90342252.	NM_024592.5(SRD5A3):c.*2641G>A GRCh37: Chr4:56238899 GRCh38: Chr4:55372732	SRD5A3, SRD5A3-AS1		SRD5A3-congenital disorder of glycosylation	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90342153.	NM_024592.5(SRD5A3):c.*2637T>G GRCh37: Chr4:56238895 GRCh38: Chr4:55372728	SRD5A3, SRD5A3-AS1		SRD5A3-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90328554.	NM_024592.5(SRD5A3):c.448G>A (p.Val150Ile) GRCh37: Chr4:56230324 GRCh38: Chr4:55364157	SRD5A3	V150I	Inborn genetic diseases, SRD5A3-congenital disorder of glycosylation	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90328455.	NM_024592.5(SRD5A3):c.126C>G (p.Gly42=) GRCh37: Chr4:56212629 GRCh38: Chr4:55346462	SRD5A3		SRD5A3-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90328356.	NM_024592.5(SRD5A3):c.124G>A (p.Gly42Ser) GRCh37: Chr4:56212627 GRCh38: Chr4:55346460	SRD5A3	G42S	SRD5A3-congenital disorder of glycosylation, Inborn genetic diseases	Uncertain significance (Nov 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90328257.	NM_024592.5(SRD5A3):c.2T>C (p.Met1Thr) GRCh37: Chr4:56212505 GRCh38: Chr4:55346338	SRD5A3	M1T	SRD5A3-congenital disorder of glycosylation, SRD5A3-congenital disorder of glycosylation, Kahrizi syndrome	Uncertain significance (Jan 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90328158.	NM_024592.5(SRD5A3):c.-27G>T GRCh37: Chr4:56212477 GRCh38: Chr4:55346310	SRD5A3		SRD5A3-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90257359.	NM_024592.5(SRD5A3):c.*2437G>A GRCh37: Chr4:56238695 GRCh38: Chr4:55372528	SRD5A3, SRD5A3-AS1		SRD5A3-congenital disorder of glycosylation	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90257260.	NM_024592.5(SRD5A3):c.*2306C>A GRCh37: Chr4:56238564 GRCh38: Chr4:55372397	SRD5A3, SRD5A3-AS1		SRD5A3-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90250061.	NM_024592.5(SRD5A3):c.*968C>T GRCh37: Chr4:56237226 GRCh38: Chr4:55371059	SRD5A3, SRD5A3-AS1		SRD5A3-congenital disorder of glycosylation	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 90249962.	NM_024592.5(SRD5A3):c.*873A>G GRCh37: Chr4:56237131 GRCh38: Chr4:55370964	SRD5A3, SRD5A3-AS1		SRD5A3-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90249863.	NM_024592.5(SRD5A3):c.*812T>C GRCh37: Chr4:56237070 GRCh38: Chr4:55370903	SRD5A3, SRD5A3-AS1		SRD5A3-congenital disorder of glycosylation	Uncertain significance (Jan 15, 2018)	criteria provided, single submitter
Select item 90249764.	NM_024592.5(SRD5A3):c.*622C>T GRCh37: Chr4:56236880 GRCh38: Chr4:55370713	SRD5A3, SRD5A3-AS1		SRD5A3-congenital disorder of glycosylation	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90249665.	NM_024592.5(SRD5A3):c.*621C>T GRCh37: Chr4:56236879 GRCh38: Chr4:55370712	SRD5A3, SRD5A3-AS1		SRD5A3-congenital disorder of glycosylation	Likely benign (Apr 27, 2017)	criteria provided, single submitter
Select item 90090366.	NM_024592.5(SRD5A3):c.*2248G>A GRCh37: Chr4:56238506 GRCh38: Chr4:55372339	SRD5A3, SRD5A3-AS1		SRD5A3-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90090267.	NM_024592.5(SRD5A3):c.*2120T>G GRCh37: Chr4:56238378 GRCh38: Chr4:55372211	SRD5A3, SRD5A3-AS1		SRD5A3-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90082368.	NM_024592.5(SRD5A3):c.*594C>T GRCh37: Chr4:56236852 GRCh38: Chr4:55370685	SRD5A3, SRD5A3-AS1		SRD5A3-congenital disorder of glycosylation	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 90082269.	NM_024592.5(SRD5A3):c.*590C>T GRCh37: Chr4:56236848 GRCh38: Chr4:55370681	SRD5A3, SRD5A3-AS1		SRD5A3-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90082170.	NM_024592.5(SRD5A3):c.*275G>T GRCh37: Chr4:56236533 GRCh38: Chr4:55370366	SRD5A3, SRD5A3-AS1		not provided, SRD5A3-congenital disorder of glycosylation	Likely benign (Jul 15, 2018)	criteria provided, multiple submitters, no conflicts
Select item 90082071.	NM_024592.5(SRD5A3):c.*242T>C GRCh37: Chr4:56236500 GRCh38: Chr4:55370333	SRD5A3, SRD5A3-AS1		SRD5A3-congenital disorder of glycosylation	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 89974972.	NM_024592.5(SRD5A3):c.*2022A>C GRCh37: Chr4:56238280 GRCh38: Chr4:55372113	SRD5A3, SRD5A3-AS1		SRD5A3-congenital disorder of glycosylation	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 89974873.	NM_024592.5(SRD5A3):c.*1665G>A GRCh37: Chr4:56237923 GRCh38: Chr4:55371756	SRD5A3, SRD5A3-AS1		SRD5A3-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89974774.	NM_024592.5(SRD5A3):c.*1624G>A GRCh37: Chr4:56237882 GRCh38: Chr4:55371715	SRD5A3, SRD5A3-AS1		SRD5A3-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89968375.	NM_024592.5(SRD5A3):c.934G>C (p.Ala312Pro) GRCh37: Chr4:56236235 GRCh38: Chr4:55370068	SRD5A3, SRD5A3-AS1	A312P	SRD5A3-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89968276.	NM_024592.5(SRD5A3):c.802G>A (p.Val268Ile) GRCh37: Chr4:56236103 GRCh38: Chr4:55369936	SRD5A3, SRD5A3-AS1	V268I	SRD5A3-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 89968177.	NM_024592.5(SRD5A3):c.673G>A (p.Gly225Ser) GRCh37: Chr4:56233865 GRCh38: Chr4:55367698	SRD5A3, SRD5A3-AS1	G225S	SRD5A3-congenital disorder of glycosylation	Uncertain significance (May 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85661678.	NM_024592.5(SRD5A3):c.821A>G (p.Asn274Ser) GRCh37: Chr4:56236122 GRCh38: Chr4:55369955	SRD5A3, SRD5A3-AS1	N274S	SRD5A3-congenital disorder of glycosylation	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 80444179.	NM_024592.5(SRD5A3):c.484C>T (p.Gln162Ter) GRCh37: Chr4:56230360 GRCh38: Chr4:55364193	SRD5A3	Q162*	SRD5A3-congenital disorder of glycosylation, Kahrizi syndrome	Likely pathogenic (Jun 20, 2019)	criteria provided, single submitter
Select item 72034780.	NM_024592.5(SRD5A3):c.837A>G (p.Leu279=) GRCh37: Chr4:56236138 GRCh38: Chr4:55369971	SRD5A3, SRD5A3-AS1		SRD5A3-congenital disorder of glycosylation	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 70310481.	NM_024592.5(SRD5A3):c.108G>T (p.Pro36=) GRCh37: Chr4:56212611 GRCh38: Chr4:55346444	SRD5A3		SRD5A3-congenital disorder of glycosylation	Conflicting interpretations of pathogenicity (Jul 18, 2022)	criteria provided, conflicting interpretations
Select item 65369082.	NM_024592.5(SRD5A3):c.695C>A (p.Ala232Glu) GRCh37: Chr4:56233887 GRCh38: Chr4:55367720	SRD5A3, SRD5A3-AS1	A232E	SRD5A3-congenital disorder of glycosylation	Uncertain significance (Jan 6, 2022)	criteria provided, single submitter
Select item 64030483.	NM_024592.5(SRD5A3):c.334C>T (p.Leu112Phe) GRCh37: Chr4:56225625 GRCh38: Chr4:55359458	SRD5A3	L112F	Inborn genetic diseases, SRD5A3-congenital disorder of glycosylation	Uncertain significance (Jan 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 63532284.	NM_024592.5(SRD5A3):c.497G>A (p.Gly166Glu) GRCh37: Chr4:56230373 GRCh38: Chr4:55364206	SRD5A3	G166E	SRD5A3-congenital disorder of glycosylation	Uncertain significance (May 15, 2019)	criteria provided, single submitter
Select item 63244285.	NM_024592.5(SRD5A3):c.951_955del (p.Phe318fs) GRCh37: Chr4:56236248-56236252 GRCh38: Chr4:55370081-55370085	SRD5A3, SRD5A3-AS1	F318fs	SRD5A3-congenital disorder of glycosylation, Kahrizi syndrome, not provided, Generalized hypotonia, Low-set ears, Hemangioma, Inborn genetic diseases, SRD5A3-congenital disorder of glycosylation	Uncertain significance (May 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 57904786.	NM_024592.5(SRD5A3):c.140A>G (p.Gln47Arg) GRCh37: Chr4:56212643 GRCh38: Chr4:55346476	SRD5A3	Q47R	SRD5A3-congenital disorder of glycosylation	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 43243287.	NM_024592.5(SRD5A3):c.50C>T (p.Ala17Val) GRCh37: Chr4:56212553 GRCh38: Chr4:55346386	SRD5A3	A17V	SRD5A3-congenital disorder of glycosylation, not provided	Uncertain significance (Apr 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 42442288.	NM_024592.5(SRD5A3):c.436G>A (p.Glu146Lys) GRCh37: Chr4:56230312 GRCh38: Chr4:55364145	SRD5A3	E146K	not provided, SRD5A3-congenital disorder of glycosylation	Conflicting interpretations of pathogenicity (Jan 24, 2022)	criteria provided, conflicting interpretations
Select item 42441589.	NM_024592.5(SRD5A3):c.562+3del GRCh37: Chr4:56230441 GRCh38: Chr4:55364274	SRD5A3		not provided, SRD5A3-congenital disorder of glycosylation	Conflicting interpretations of pathogenicity (Jul 12, 2021)	criteria provided, conflicting interpretations
Select item 38968990.	NM_024592.5(SRD5A3):c.672C>T (p.Leu224=) GRCh37: Chr4:56233864 GRCh38: Chr4:55367697	SRD5A3, SRD5A3-AS1		not provided, SRD5A3-congenital disorder of glycosylation	Likely benign (Sep 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 38348291.	NM_024592.5(SRD5A3):c.364+19T>C GRCh37: Chr4:56225674 GRCh38: Chr4:55359507	SRD5A3		not provided, SRD5A3-congenital disorder of glycosylation	Benign/Likely benign (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 38244092.	NM_024592.5(SRD5A3):c.365-15C>T GRCh37: Chr4:56230226 GRCh38: Chr4:55364059	SRD5A3		not specified, SRD5A3-congenital disorder of glycosylation	Likely benign (Jun 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34905593.	NM_024592.5(SRD5A3):c.*2984A>G GRCh37: Chr4:56239242 GRCh38: Chr4:55373075	SRD5A3, SRD5A3-AS1		SRD5A3-congenital disorder of glycosylation	Likely benign (Jan 12, 2018)	criteria provided, single submitter
Select item 34905494.	NM_024592.5(SRD5A3):c.*2915A>G GRCh37: Chr4:56239173 GRCh38: Chr4:55373006	SRD5A3, SRD5A3-AS1		SRD5A3-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34905395.	NM_024592.5(SRD5A3):c.*2870A>G GRCh37: Chr4:56239128 GRCh38: Chr4:55372961	SRD5A3, SRD5A3-AS1		SRD5A3-congenital disorder of glycosylation	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34904896.	NM_024592.5(SRD5A3):c.*2804C>T GRCh37: Chr4:56239062 GRCh38: Chr4:55372895	SRD5A3, SRD5A3-AS1		SRD5A3-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34904797.	NM_024592.5(SRD5A3):c.*2589G>A GRCh37: Chr4:56238847 GRCh38: Chr4:55372680	SRD5A3, SRD5A3-AS1		SRD5A3-congenital disorder of glycosylation	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 34904698.	NM_024592.5(SRD5A3):c.*2560A>G GRCh37: Chr4:56238818 GRCh38: Chr4:55372651	SRD5A3, SRD5A3-AS1		SRD5A3-congenital disorder of glycosylation	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34904599.	NM_024592.5(SRD5A3):c.*2437G>C GRCh37: Chr4:56238695 GRCh38: Chr4:55372528	SRD5A3, SRD5A3-AS1		SRD5A3-congenital disorder of glycosylation	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 349044100.	NM_024592.5(SRD5A3):c.*2430C>T GRCh37: Chr4:56238688 GRCh38: Chr4:55372521	SRD5A3, SRD5A3-AS1		SRD5A3-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter

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