ClinVar for MedGen (Select 87455) - ClinVar

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Items: 74

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 14343841.	NM_001164277.2(SLC37A4):c.1129G>A (p.Gly377Ser) GRCh37: Chr11:118895781 GRCh38: Chr11:119025071	SLC37A4	G399S, G304S, G377S	Phosphate transport defect, Congenital disorder of glycosylation, type IIw, Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect	Uncertain significance (Dec 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 14113182.	NM_001164277.2(SLC37A4):c.1287G>C (p.Glu429Asp) GRCh37: Chr11:118895623 GRCh38: Chr11:119024913	SLC37A4	E451D, E429D, E356D	Glucose-6-phosphate transport defect, Congenital disorder of glycosylation, type IIw, Phosphate transport defect, Glucose-6-phosphate transport defect	Uncertain significance (Oct 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 13832523.	NM_001164277.2(SLC37A4):c.503C>T (p.Thr168Met) GRCh37: Chr11:118898461 GRCh38: Chr11:119027751	SLC37A4	T95M, T168M	Congenital disorder of glycosylation, type IIw, Phosphate transport defect, Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect, Inborn genetic diseases	Uncertain significance (Jun 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13668254.	NM_001164277.2(SLC37A4):c.1176T>G (p.Ser392Arg) GRCh37: Chr11:118895734 GRCh38: Chr11:119025024	SLC37A4	S414R, S319R, S392R	Congenital disorder of glycosylation, type IIw, Phosphate transport defect, Glucose-6-phosphate transport defect, Inborn genetic diseases, Glucose-6-phosphate transport defect	Uncertain significance (Jun 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13013385.	NM_001164277.2(SLC37A4):c.1124+3_1124+6del GRCh37: Chr11:118895895-118895898 GRCh38: Chr11:119025185-119025188	SLC37A4		Glucose-6-phosphate transport defect	Pathogenic/Likely pathogenic (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12098416.	NM_001164277.2(SLC37A4):c.711T>G (p.Phe237Leu) GRCh37: Chr11:118897720 GRCh38: Chr11:119027010	SLC37A4	F164L, F237L	Glucose-6-phosphate transport defect, Phosphate transport defect	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 11848457.	NM_001164277.2(SLC37A4):c.1267C>T (p.Arg423Ter) GRCh37: Chr11:118895643 GRCh38: Chr11:119024933	SLC37A4	R350, R423, R445*	Glucose-6-phosphate transport defect, Congenital disorder of glycosylation, type IIw, Phosphate transport defect, Congenital disorder of glycosylation, type IIw	Pathogenic/Likely pathogenic (Apr 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 11426168.	NM_001164277.2(SLC37A4):c.567T>C (p.Asn189=) GRCh37: Chr11:118898396 GRCh38: Chr11:119027686	SLC37A4		Congenital disorder of glycosylation, type IIw, Glucose-6-phosphate transport defect, Phosphate transport defect, Glucose-6-phosphate transport defect	Likely benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 11131619.	NM_001164277.2(SLC37A4):c.1215G>A (p.Ala405=) GRCh37: Chr11:118895695 GRCh38: Chr11:119024985	SLC37A4		Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect, Congenital disorder of glycosylation, type IIw, Phosphate transport defect	Likely benign (Sep 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106313410.	NM_001164277.2(SLC37A4):c.230G>T (p.Arg77Leu) GRCh37: Chr11:118899055 GRCh38: Chr11:119028345	SLC37A4	R4L, R77L	Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect, Congenital disorder of glycosylation, type IIw, Phosphate transport defect	Uncertain significance (Aug 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 104454811.	NM_001164277.2(SLC37A4):c.13G>C (p.Gly5Arg) GRCh37: Chr11:118900067 GRCh38: Chr11:119029357	SLC37A4	G5R	Glucose-6-phosphate transport defect, Congenital disorder of glycosylation, type IIw, Glucose-6-phosphate transport defect, Phosphate transport defect	Uncertain significance (Jun 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103894012.	NM_001164277.2(SLC37A4):c.943A>G (p.Met315Val) GRCh37: Chr11:118896718 GRCh38: Chr11:119026008	SLC37A4	M242V, M315V	Glucose-6-phosphate transport defect, Phosphate transport defect	Uncertain significance (Jul 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102029013.	NM_001164277.2(SLC37A4):c.264C>T (p.Gly88=) GRCh37: Chr11:118899021 GRCh38: Chr11:119028311	SLC37A4		Congenital disorder of glycosylation, type IIw, Phosphate transport defect, Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 101542714.	NM_001164277.2(SLC37A4):c.944T>C (p.Met315Thr) GRCh37: Chr11:118896717 GRCh38: Chr11:119026007	SLC37A4	M242T, M315T	Glucose-6-phosphate transport defect, Congenital disorder of glycosylation, type IIw, Phosphate transport defect, Glucose-6-phosphate transport defect	Uncertain significance (Jun 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99100815.	NM_001164277.2(SLC37A4):c.703G>T (p.Val235Leu) GRCh37: Chr11:118897728 GRCh38: Chr11:119027018	SLC37A4	V162L, V235L	Glucose-6-phosphate transport defect, Phosphate transport defect, Congenital disorder of glycosylation, type IIw, Glucose-6-phosphate transport defect	Uncertain significance (Oct 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97077216.	NM_001164277.2(SLC37A4):c.376C>T (p.Arg126Trp) GRCh37: Chr11:118898909 GRCh38: Chr11:119028199	SLC37A4	R53W, R126W	Phosphate transport defect, Congenital disorder of glycosylation, type IIw, Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect	Uncertain significance (Feb 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97048917.	NM_001164277.2(SLC37A4):c.13G>A (p.Gly5Ser) GRCh37: Chr11:118900067 GRCh38: Chr11:119029357	SLC37A4	G5S	Phosphate transport defect, Congenital disorder of glycosylation, type IIw, Glucose-6-phosphate transport defect, Inborn genetic diseases, Glucose-6-phosphate transport defect	Uncertain significance (May 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 97032018.	NM_001164277.2(SLC37A4):c.29G>A (p.Arg10His) GRCh37: Chr11:118900051 GRCh38: Chr11:119029341	SLC37A4	R10H	Inborn genetic diseases, Phosphate transport defect, Congenital disorder of glycosylation, type IIw, Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect	Uncertain significance (Apr 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 97014019.	NM_001164277.2(SLC37A4):c.230G>A (p.Arg77His) GRCh37: Chr11:118899055 GRCh38: Chr11:119028345	SLC37A4	R77H, R4H	Phosphate transport defect, Congenital disorder of glycosylation, type IIw, Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect	Uncertain significance (Nov 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 96602620.	NM_001164277.2(SLC37A4):c.761A>G (p.Glu254Gly) GRCh37: Chr11:118897670 GRCh38: Chr11:119026960	SLC37A4	E181G, E254G	Phosphate transport defect, Congenital disorder of glycosylation, type IIw, Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect	Uncertain significance (Jan 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 96582421.	NM_001164277.2(SLC37A4):c.127C>T (p.Pro43Ser) GRCh37: Chr11:118899953 GRCh38: Chr11:119029243	SLC37A4	P43S	Glucose-6-phosphate transport defect, Congenital disorder of glycosylation, type IIw, Phosphate transport defect, Inborn genetic diseases, Glucose-6-phosphate transport defect	Uncertain significance (Apr 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 96521822.	NM_001164277.2(SLC37A4):c.100G>A (p.Val34Ile) GRCh37: Chr11:118899980 GRCh38: Chr11:119029270	SLC37A4	V34I	Glucose-6-phosphate transport defect, Inborn genetic diseases, Congenital disorder of glycosylation, type IIw, Phosphate transport defect, Glucose-6-phosphate transport defect	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93719723.	NM_001164277.2(SLC37A4):c.977C>A (p.Ser326Tyr) GRCh37: Chr11:118896684 GRCh38: Chr11:119025974	SLC37A4	S326Y, S253Y	Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect, Phosphate transport defect, Congenital disorder of glycosylation, type IIw	Uncertain significance (Oct 8, 2021)	criteria provided, multiple submitters, no conflicts
Select item 86181224.	NM_001164277.2(SLC37A4):c.544C>T (p.Leu182Phe) GRCh37: Chr11:118898419 GRCh38: Chr11:119027709	SLC37A4	L182F, L109F	Glucose-6-phosphate transport defect, Congenital disorder of glycosylation, type IIw, Phosphate transport defect, Glucose-6-phosphate transport defect	Uncertain significance (Jul 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 84632525.	NM_001164277.2(SLC37A4):c.955C>T (p.Arg319Trp) GRCh37: Chr11:118896706 GRCh38: Chr11:119025996	SLC37A4	R246W, R319W	Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect, Phosphate transport defect, Congenital disorder of glycosylation, type IIw	Uncertain significance (Jan 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 84135626.	NM_001164277.2(SLC37A4):c.1073C>T (p.Pro358Leu) GRCh37: Chr11:118895951 GRCh38: Chr11:119025241	SLC37A4	P285L, P358L, P380L	Glucose-6-phosphate transport defect, Phosphate transport defect, Congenital disorder of glycosylation, type IIw, Glucose-6-phosphate transport defect	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 82798827.	NM_001164277.2(SLC37A4):c.496C>T (p.Arg166Cys) GRCh37: Chr11:118898468 GRCh38: Chr11:119027758	SLC37A4	R166C, R93C	Glucose-6-phosphate transport defect, Phosphate transport defect, Glucose-6-phosphate transport defect, Congenital disorder of glycosylation, type IIw, Phosphate transport defect, Glucose-6-phosphate transport defect	Uncertain significance (Jan 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80077628.	NM_001164277.2(SLC37A4):c.963_964del (p.Val322fs) GRCh37: Chr11:118896697-118896698 GRCh38: Chr11:119025987-119025988	SLC37A4	V322fs, V249fs	Glucose-6-phosphate transport defect, Phosphate transport defect	Likely pathogenic (Jan 29, 2019)	no assertion criteria provided
Select item 76674229.	NM_001164277.2(SLC37A4):c.723C>T (p.Thr241=) GRCh37: Chr11:118897708 GRCh38: Chr11:119026998	SLC37A4		Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect, Phosphate transport defect, Congenital disorder of glycosylation, type IIw	Likely benign (Sep 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 75129830.	NM_001164277.2(SLC37A4):c.888C>T (p.Tyr296=) GRCh37: Chr11:118896773 GRCh38: Chr11:119026063	SLC37A4		Glucose-6-phosphate transport defect, Congenital disorder of glycosylation, type IIw, Phosphate transport defect, Glucose-6-phosphate transport defect	Likely benign (Aug 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 71290431.	NM_001164277.2(SLC37A4):c.663G>A (p.Leu221=) GRCh37: Chr11:118897768 GRCh38: Chr11:119027058	SLC37A4		Congenital disorder of glycosylation, type IIw, Glucose-6-phosphate transport defect, Phosphate transport defect, Glucose-6-phosphate transport defect	Likely benign (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 70950632.	NM_001164277.2(SLC37A4):c.972T>C (p.Ser324=) GRCh37: Chr11:118896689 GRCh38: Chr11:119025979	SLC37A4		Inborn genetic diseases, Glucose-6-phosphate transport defect, Phosphate transport defect, Congenital disorder of glycosylation, type IIw, Glucose-6-phosphate transport defect	Likely benign (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 66616933.	NM_001164277.2(SLC37A4):c.590G>A (p.Arg197His) GRCh37: Chr11:118898373 GRCh38: Chr11:119027663	SLC37A4	R124H, R197H	Phosphate transport defect, Glucose-6-phosphate transport defect, Congenital disorder of glycosylation, type IIw, Glucose-6-phosphate transport defect	Uncertain significance (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 66338434.	NM_001164277.2(SLC37A4):c.1004G>A (p.Gly335Glu) GRCh37: Chr11:118896020 GRCh38: Chr11:119025310	SLC37A4	G357E, G335E, G262E	not provided, Phosphate transport defect, Glucose-6-phosphate transport defect	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 65450335.	NM_001164277.2(SLC37A4):c.242C>T (p.Ser81Phe) GRCh37: Chr11:118899043 GRCh38: Chr11:119028333	SLC37A4	S81F, S8F	Congenital disorder of glycosylation, type IIw, Phosphate transport defect, Glucose-6-phosphate transport defect, Inborn genetic diseases, not provided, Glucose-6-phosphate transport defect	Uncertain significance (Mar 13, 2023)	criteria provided, multiple submitters, no conflicts
Select item 65433636.	NM_001164277.2(SLC37A4):c.631T>G (p.Leu211Val) GRCh37: Chr11:118897800 GRCh38: Chr11:119027090	SLC37A4	L138V, L211V	Glucose-6-phosphate transport defect, Phosphate transport defect, Glucose-6-phosphate transport defect, Congenital disorder of glycosylation, type IIw	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 65209037.	NM_001164277.2(SLC37A4):c.1286A>C (p.Glu429Ala) GRCh37: Chr11:118895624 GRCh38: Chr11:119024914	SLC37A4	E356A, E451A, E429A	Phosphate transport defect, Glucose-6-phosphate transport defect, Congenital disorder of glycosylation, type IIw, not specified, Glucose-6-phosphate transport defect, not provided	Conflicting interpretations of pathogenicity (Jul 15, 2023)	criteria provided, conflicting interpretations
Select item 65083138.	NM_001164277.2(SLC37A4):c.1159A>G (p.Ile387Val) GRCh37: Chr11:118895751 GRCh38: Chr11:119025041	SLC37A4	I314V, I409V, I387V	Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect, Congenital disorder of glycosylation, type IIw, Phosphate transport defect, Inborn genetic diseases	Uncertain significance (Oct 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 63341739.	NM_001164277.2(SLC37A4):c.359dup (p.Cys121fs) GRCh37: Chr11:118898925-118898926 GRCh38: Chr11:119028215-119028216	SLC37A4	C48fs, C121fs	Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect, Congenital disorder of glycosylation, type IIw, Phosphate transport defect	Pathogenic (Apr 14, 2023)	criteria provided, multiple submitters, no conflicts
Select item 59501640.	NM_001164277.2(SLC37A4):c.556C>T (p.Leu186Phe) GRCh37: Chr11:118898407 GRCh38: Chr11:119027697	SLC37A4	L186F, L113F	Congenital disorder of glycosylation, type IIw, Phosphate transport defect, Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect, Phosphate transport defect, not provided, Inborn genetic diseases	Uncertain significance (Mar 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 58157141.	NM_001164277.2(SLC37A4):c.515C>T (p.Ser172Phe) GRCh37: Chr11:118898449 GRCh38: Chr11:119027739	SLC37A4	S172F, S99F	Phosphate transport defect, Congenital disorder of glycosylation, type IIw, Glucose-6-phosphate transport defect, Inborn genetic diseases, Glycogen storage disease, type I, Glucose-6-phosphate transport defect	Uncertain significance (Aug 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 57443242.	NM_001164277.2(SLC37A4):c.1117G>A (p.Ala373Thr) GRCh37: Chr11:118895907 GRCh38: Chr11:119025197	SLC37A4	A373T, A395T, A300T	Phosphate transport defect, Congenital disorder of glycosylation, type IIw, Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect	Uncertain significance (Apr 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 56565443.	NM_001164277.2(SLC37A4):c.1214C>T (p.Ala405Val) GRCh37: Chr11:118895696 GRCh38: Chr11:119024986	SLC37A4	A405V, A427V, A332V	Glucose-6-phosphate transport defect, Phosphate transport defect, Congenital disorder of glycosylation, type IIw, Glucose-6-phosphate transport defect	Uncertain significance (Feb 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55701544.	NM_001164277.2(SLC37A4):c.74_77del (p.Tyr25fs) GRCh37: Chr11:118900003-118900006 GRCh38: Chr11:119029293-119029296	SLC37A4	Y25fs	Phosphate transport defect, Congenital disorder of glycosylation, type IIw, Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect	Pathogenic/Likely pathogenic (Aug 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55670745.	NM_001164277.2(SLC37A4):c.149-3C>T GRCh37: Chr11:118899139 GRCh38: Chr11:119028429	SLC37A4		Congenital disorder of glycosylation, type IIw, Phosphate transport defect, Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect	Uncertain significance (Aug 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55648446.	NM_001164277.2(SLC37A4):c.173C>T (p.Ala58Val) GRCh37: Chr11:118899112 GRCh38: Chr11:119028402	SLC37A4	A58V	Phosphate transport defect, Congenital disorder of glycosylation, type IIw, Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect	Uncertain significance (Apr 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55274147.	NM_001164277.2(SLC37A4):c.679T>C (p.Trp227Arg) GRCh37: Chr11:118897752 GRCh38: Chr11:119027042	SLC37A4	W227R, W154R	Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect, Congenital disorder of glycosylation, type IIw, Phosphate transport defect	Uncertain significance (Nov 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 55226648.	NM_001164277.2(SLC37A4):c.148+20G>A GRCh37: Chr11:118899912 GRCh38: Chr11:119029202	SLC37A4		Congenital disorder of glycosylation, type IIw, Phosphate transport defect, Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect	Conflicting interpretations of pathogenicity (Aug 17, 2022)	criteria provided, conflicting interpretations
Select item 55153449.	NM_001164277.2(SLC37A4):c.1175G>A (p.Ser392Asn) GRCh37: Chr11:118895735 GRCh38: Chr11:119025025	SLC37A4	S392N, S414N, S319N	Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect, Congenital disorder of glycosylation, type IIw, Phosphate transport defect	Uncertain significance (Feb 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 55062150.	NM_001164277.2(SLC37A4):c.901C>G (p.His301Asp) GRCh37: Chr11:118896760 GRCh38: Chr11:119026050	SLC37A4	H301D, H228D	Glucose-6-phosphate transport defect, Phosphate transport defect, Glucose-6-phosphate transport defect, Congenital disorder of glycosylation, type IIw	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 52922251.	NM_001164277.2(SLC37A4):c.205G>T (p.Val69Leu) GRCh37: Chr11:118899080 GRCh38: Chr11:119028370	SLC37A4	V69L	Inborn genetic diseases, not provided, Glucose-6-phosphate transport defect, Congenital disorder of glycosylation, type IIw, Phosphate transport defect, Glucose-6-phosphate transport defect	Uncertain significance (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 30270652.	NM_001164277.2(SLC37A4):c.492C>T (p.Ser164=) GRCh37: Chr11:118898472 GRCh38: Chr11:119027762	SLC37A4		not specified, Glucose-6-phosphate transport defect, Phosphate transport defect, Congenital disorder of glycosylation, type IIw, Glucose-6-phosphate transport defect, Glycogen storage disease, type I	Conflicting interpretations of pathogenicity (Oct 8, 2022)	criteria provided, conflicting interpretations
Select item 21517953.	NM_001164277.2(SLC37A4):c.956G>A (p.Arg319Gln) GRCh37: Chr11:118896705 GRCh38: Chr11:119025995	SLC37A4	R319Q, R246Q	Glucose-6-phosphate transport defect, Phosphate transport defect, Congenital disorder of glycosylation, type IIw, not provided, Glucose-6-phosphate transport defect	Uncertain significance (Apr 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21517854.	NM_001164277.2(SLC37A4):c.497G>A (p.Arg166His) GRCh37: Chr11:118898467 GRCh38: Chr11:119027757	SLC37A4	R166H, R93H	Congenital disorder of glycosylation, type IIw, Glucose-6-phosphate transport defect, Phosphate transport defect, not provided, Glucose-6-phosphate transport defect, Phosphate transport defect, Glucose-6-phosphate transport defect	Conflicting interpretations of pathogenicity (Oct 21, 2022)	criteria provided, conflicting interpretations
Select item 21517755.	NM_001164277.2(SLC37A4):c.467C>T (p.Ala156Val) GRCh37: Chr11:118898497 GRCh38: Chr11:119027787	SLC37A4	A156V, A83V	Phosphate transport defect, Glucose-6-phosphate transport defect, Glycogen storage disease, type I, not provided, Glucose-6-phosphate transport defect	Conflicting interpretations of pathogenicity (Nov 4, 2022)	criteria provided, conflicting interpretations
Select item 21517656.	NM_001164277.2(SLC37A4):c.433A>G (p.Met145Val) GRCh37: Chr11:118898531 GRCh38: Chr11:119027821	SLC37A4	M145V, M72V	not provided, Glucose-6-phosphate transport defect, Phosphate transport defect, Congenital disorder of glycosylation, type IIw, Glucose-6-phosphate transport defect	Uncertain significance (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 18879957.	NM_001164277.2(SLC37A4):c.923_934dup (p.Met308_Met311dup) GRCh37: Chr11:118896726-118896727 GRCh38: Chr11:119026016-119026017	SLC37A4		Glucose-6-phosphate transport defect	Conflicting interpretations of pathogenicity (Mar 29, 2022)	criteria provided, conflicting interpretations
Select item 13919358.	NM_001164277.2(SLC37A4):c.1275C>T (p.Ser425=) GRCh37: Chr11:118895635 GRCh38: Chr11:119024925	SLC37A4		not specified, not provided, Glucose-6-phosphate transport defect, Phosphate transport defect	Benign/Likely benign (Sep 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13919259.	NM_001164277.2(SLC37A4):c.1224G>A (p.Thr408=) GRCh37: Chr11:118895686 GRCh38: Chr11:119024976	SLC37A4		not specified, Glucose-6-phosphate transport defect, Phosphate transport defect	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13919160.	NM_001164277.2(SLC37A4):c.1062C>T (p.Asn354=) GRCh37: Chr11:118895962 GRCh38: Chr11:119025252	SLC37A4		not specified, not provided, Glucose-6-phosphate transport defect, Phosphate transport defect	Benign (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13919061.	NM_001164277.2(SLC37A4):c.626+19C>T GRCh37: Chr11:118898319 GRCh38: Chr11:119027609	SLC37A4		not specified, Glucose-6-phosphate transport defect, Phosphate transport defect	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13918962.	NM_001164277.2(SLC37A4):c.626+14C>T GRCh37: Chr11:118898324 GRCh38: Chr11:119027614	SLC37A4		not specified, Glucose-6-phosphate transport defect, Phosphate transport defect	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13918663.	NM_001164277.2(SLC37A4):c.149-14A>G GRCh37: Chr11:118899150 GRCh38: Chr11:119028440	SLC37A4		Phosphate transport defect, Congenital disorder of glycosylation, type IIw, Glucose-6-phosphate transport defect, not specified, Glycogen storage disease, type I, Glucose-6-phosphate transport defect, Phosphate transport defect	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6829464.	NM_001164277.2(SLC37A4):c.899G>A (p.Arg300His) GRCh37: Chr11:118896762 GRCh38: Chr11:119026052	SLC37A4	R300H, R227H	Glycogen storage disease type 1 due to SLC37A4 mutation, Phosphate transport defect, Congenital disorder of glycosylation, type IIw, Glucose-6-phosphate transport defect, Glucose-6-phosphate transport defect, not provided	Pathogenic/Likely pathogenic (Apr 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6829165.	NM_001164277.2(SLC37A4):c.82C>T (p.Arg28Cys) GRCh37: Chr11:118899998 GRCh38: Chr11:119029288	SLC37A4	R28C	Phosphate transport defect, Glucose-6-phosphate transport defect, Congenital disorder of glycosylation, type IIw, Glucose-6-phosphate transport defect	Pathogenic (May 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6828666.	NM_001164277.2(SLC37A4):c.59G>A (p.Gly20Asp) GRCh37: Chr11:118900021 GRCh38: Chr11:119029311	SLC37A4	G20D	Glucose-6-phosphate transport defect, Phosphate transport defect, Congenital disorder of glycosylation, type IIw, Glucose-6-phosphate transport defect, not provided	Pathogenic/Likely pathogenic (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6828167.	NM_001164277.2(SLC37A4):c.448G>A (p.Gly150Arg) GRCh37: Chr11:118898516 GRCh38: Chr11:119027806	SLC37A4	G150R, G77R	Glucose-6-phosphate transport defect, Phosphate transport defect, Congenital disorder of glycosylation, type IIw, Glucose-6-phosphate transport defect	Likely pathogenic (Oct 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6827268.	NM_001164277.2(SLC37A4):c.149G>A (p.Gly50Glu) GRCh37: Chr11:118899136 GRCh38: Chr11:119028426	SLC37A4	G50E	Phosphate transport defect, Glucose-6-phosphate transport defect, Congenital disorder of glycosylation, type IIw, not provided, Glucose-6-phosphate transport defect	Uncertain significance (Feb 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 693569.	NM_001164277.2(SLC37A4):c.1016G>A (p.Gly339Asp) GRCh37: Chr11:118896008 GRCh38: Chr11:119025298	SLC37A4	G339D, G266D, G361D	Congenital disorder of glycosylation, type IIw, Glucose-6-phosphate transport defect, Phosphate transport defect, Glucose-6-phosphate transport defect	Pathogenic/Likely pathogenic (Jul 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 693470.	NM_001164277.2(SLC37A4):c.1243C>T (p.Arg415Ter) GRCh37: Chr11:118895667 GRCh38: Chr11:119024957	SLC37A4	R415, R342, R437*	Congenital disorder of glycosylation, type IIw, Glucose-6-phosphate transport defect, Phosphate transport defect, Glucose-6-phosphate transport defect, Phosphate transport defect	Pathogenic/Likely pathogenic (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 693371.	NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His) GRCh37: Chr11:118899997 GRCh38: Chr11:119029287	SLC37A4	R28H	Congenital disorder of glycosylation, type IIw, Glucose-6-phosphate transport defect, Phosphate transport defect, not provided, Glucose-6-phosphate transport defect	Pathogenic/Likely pathogenic (Feb 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 693272.	NM_001164277.2(SLC37A4):c.148+1G>A GRCh37: Chr11:118899931 GRCh38: Chr11:119029221	SLC37A4		Congenital disorder of glycosylation, type IIw, Glucose-6-phosphate transport defect, Phosphate transport defect, Glucose-6-phosphate transport defect	Pathogenic/Likely pathogenic (Sep 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 692873.	NM_001164277.2(SLC37A4):c.287G>A (p.Trp96Ter) GRCh37: Chr11:118898998 GRCh38: Chr11:119028288	SLC37A4	W96, W23	Glycogen storage disease, type I, Glucose-6-phosphate transport defect	Conflicting interpretations of pathogenicity (Nov 3, 2022)	criteria provided, conflicting interpretations
Select item 692674.	NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs) GRCh37: Chr11:118895981-118895982 GRCh38: Chr11:119025271-119025272	SLC37A4	L275fs, L348fs, L370fs	Inborn genetic diseases, not provided, Glycogen storage disease, Congenital disorder of glycosylation, type IIw, Congenital disorder of glycosylation, type IIw, Glucose-6-phosphate transport defect, Phosphate transport defect, Glucose-6-phosphate transport defect, Phosphate transport defect	Pathogenic (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts

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Items: 74