ClinVar for MedGen (Select 87455) - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1434384	NM_001164277.2(SLC37A4):c.1129G>A (p.Gly377Ser)	SLC37A4 (G399S +2 more)	Single nucleotide variant (missense variant)	Phosphate transport defect +2 more	GUncertain significance
Select item 1411318	NM_001164277.2(SLC37A4):c.1287G>C (p.Glu429Asp)	SLC37A4 (E451D +2 more)	Single nucleotide variant (missense variant)	Phosphate transport defect +2 more	GUncertain significance
Select item 1383252	NM_001164277.2(SLC37A4):c.503C>T (p.Thr168Met)	SLC37A4 (T95M +1 more)	Single nucleotide variant (missense variant)	Phosphate transport defect +3 more	GUncertain significance
Select item 1366825	NM_001164277.2(SLC37A4):c.1176T>G (p.Ser392Arg)	SLC37A4 (S414R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1301338	NM_001164277.2(SLC37A4):c.1124+3_1124+6del	SLC37A4	Deletion (splice donor variant)	Glucose-6-phosphate transport defect	GPathogenic/Likely pathogenic
Select item 1209841	NM_001164277.2(SLC37A4):c.711T>G (p.Phe237Leu)	SLC37A4 (F164L +1 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect +1 more	GUncertain significance
Select item 1184845	NM_001164277.2(SLC37A4):c.1267C>T (p.Arg423Ter)	SLC37A4 (R350* +2 more)	Single nucleotide variant (nonsense)	Congenital disorder of glycosylation, type IIw +2 more	GPathogenic/Likely pathogenic
Select item 1142616	NM_001164277.2(SLC37A4):c.567T>C (p.Asn189=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect +2 more	GLikely benign
Select item 1113161	NM_001164277.2(SLC37A4):c.1215G>A (p.Ala405=)	SLC37A4	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation, type IIw +2 more	GLikely benign
Select item 1063134	NM_001164277.2(SLC37A4):c.230G>T (p.Arg77Leu)	SLC37A4 (R4L +1 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect +2 more	GUncertain significance
Select item 1044548	NM_001164277.2(SLC37A4):c.13G>C (p.Gly5Arg)	SLC37A4 (G5R)	Single nucleotide variant (missense variant +1 more)	Glucose-6-phosphate transport defect +3 more	GUncertain significance
Select item 1038940	NM_001164277.2(SLC37A4):c.943A>G (p.Met315Val)	SLC37A4 (M242V +1 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect +1 more	GUncertain significance
Select item 1020290	NM_001164277.2(SLC37A4):c.264C>T (p.Gly88=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect +2 more	GConflicting classifications of pathogenicity
Select item 1015427	NM_001164277.2(SLC37A4):c.944T>C (p.Met315Thr)	SLC37A4 (M242T +1 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect +2 more	GUncertain significance
Select item 991008	NM_001164277.2(SLC37A4):c.703G>T (p.Val235Leu)	SLC37A4 (V162L +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IIw +2 more	GUncertain significance
Select item 970772	NM_001164277.2(SLC37A4):c.376C>T (p.Arg126Trp)	SLC37A4 (R53W +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IIw +2 more	GUncertain significance
Select item 970489	NM_001164277.2(SLC37A4):c.13G>A (p.Gly5Ser)	SLC37A4 (G5S)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation, type IIw +3 more	GUncertain significance
Select item 970320	NM_001164277.2(SLC37A4):c.29G>A (p.Arg10His)	SLC37A4 (R10H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 970140	NM_001164277.2(SLC37A4):c.230G>A (p.Arg77His)	SLC37A4 (R77H +1 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect +2 more	GUncertain significance
Select item 966026	NM_001164277.2(SLC37A4):c.761A>G (p.Glu254Gly)	SLC37A4 (E181G +1 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect +2 more	GUncertain significance
Select item 965824	NM_001164277.2(SLC37A4):c.127C>T (p.Pro43Ser)	SLC37A4 (P43S)	Single nucleotide variant (missense variant +1 more)	SLC37A4-related condition +4 more	GUncertain significance
Select item 965218	NM_001164277.2(SLC37A4):c.100G>A (p.Val34Ile)	SLC37A4 (V34I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 937197	NM_001164277.2(SLC37A4):c.977C>A (p.Ser326Tyr)	SLC37A4 (S326Y +1 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect +2 more	GUncertain significance
Select item 861812	NM_001164277.2(SLC37A4):c.544C>T (p.Leu182Phe)	SLC37A4 (L182F +1 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect +2 more	GUncertain significance
Select item 846325	NM_001164277.2(SLC37A4):c.955C>T (p.Arg319Trp)	SLC37A4 (R246W +1 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect +2 more	GUncertain significance
Select item 841356	NM_001164277.2(SLC37A4):c.1073C>T (p.Pro358Leu)	SLC37A4 (P285L +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect +2 more	GUncertain significance
Select item 827988	NM_001164277.2(SLC37A4):c.496C>T (p.Arg166Cys)	SLC37A4 (R166C +1 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect +2 more	GUncertain significance
Select item 800776	NM_001164277.2(SLC37A4):c.963_964del (p.Val322fs)	SLC37A4 (V322fs +1 more)	Deletion (frameshift variant)	Glucose-6-phosphate transport defect +1 more	GLikely pathogenic
Select item 766742	NM_001164277.2(SLC37A4):c.723C>T (p.Thr241=)	SLC37A4	Single nucleotide variant (synonymous variant)	Phosphate transport defect +2 more	GLikely benign
Select item 751298	NM_001164277.2(SLC37A4):c.888C>T (p.Tyr296=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect +2 more	GLikely benign
Select item 712904	NM_001164277.2(SLC37A4):c.663G>A (p.Leu221=)	SLC37A4	Single nucleotide variant (synonymous variant)	Phosphate transport defect +3 more	GLikely benign
Select item 709506	NM_001164277.2(SLC37A4):c.972T>C (p.Ser324=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect +4 more	GLikely benign
Select item 666169	NM_001164277.2(SLC37A4):c.590G>A (p.Arg197His)	SLC37A4 (R124H +1 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect +2 more	GUncertain significance
Select item 663384	NM_001164277.2(SLC37A4):c.1004G>A (p.Gly335Glu)	SLC37A4 (G357E +2 more)	Single nucleotide variant (missense variant)	Phosphate transport defect +2 more	GUncertain significance
Select item 654503	NM_001164277.2(SLC37A4):c.242C>T (p.Ser81Phe)	SLC37A4 (S81F +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 654336	NM_001164277.2(SLC37A4):c.631T>G (p.Leu211Val)	SLC37A4 (L138V +1 more)	Single nucleotide variant (missense variant)	Phosphate transport defect +2 more	GUncertain significance
Select item 652090	NM_001164277.2(SLC37A4):c.1286A>C (p.Glu429Ala)	SLC37A4 (E356A +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect +4 more	GConflicting classifications of pathogenicity
Select item 650831	NM_001164277.2(SLC37A4):c.1159A>G (p.Ile387Val)	SLC37A4 (I314V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 633417	NM_001164277.2(SLC37A4):c.359dup (p.Cys121fs)	SLC37A4 (C48fs +1 more)	Duplication (frameshift variant)	Glucose-6-phosphate transport defect +2 more	GPathogenic
Select item 595016	NM_001164277.2(SLC37A4):c.556C>T (p.Leu186Phe)	SLC37A4 (L186F +1 more)	Single nucleotide variant (missense variant)	Phosphate transport defect +4 more	GUncertain significance
Select item 581571	NM_001164277.2(SLC37A4):c.515C>T (p.Ser172Phe)	SLC37A4 (S172F +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type I +4 more	GUncertain significance
Select item 574432	NM_001164277.2(SLC37A4):c.1117G>A (p.Ala373Thr)	SLC37A4 (A373T +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect +2 more	GUncertain significance
Select item 565654	NM_001164277.2(SLC37A4):c.1214C>T (p.Ala405Val)	SLC37A4 (A405V +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect +2 more	GUncertain significance
Select item 557015	NM_001164277.2(SLC37A4):c.74_77del (p.Tyr25fs)	SLC37A4 (Y25fs)	Deletion (frameshift variant +1 more)	Glucose-6-phosphate transport defect +2 more	GPathogenic/Likely pathogenic
Select item 556707	NM_001164277.2(SLC37A4):c.149-3C>T	SLC37A4	Single nucleotide variant (intron variant)	Glucose-6-phosphate transport defect +2 more	GUncertain significance
Select item 556484	NM_001164277.2(SLC37A4):c.173C>T (p.Ala58Val)	SLC37A4 (A58V)	Single nucleotide variant (missense variant +1 more)	Glucose-6-phosphate transport defect +2 more	GUncertain significance
Select item 552741	NM_001164277.2(SLC37A4):c.679T>C (p.Trp227Arg)	SLC37A4 (W227R +1 more)	Single nucleotide variant (missense variant)	Phosphate transport defect +2 more	GUncertain significance
Select item 552266	NM_001164277.2(SLC37A4):c.148+20G>A	SLC37A4	Single nucleotide variant (intron variant)	Phosphate transport defect +2 more	GLikely benign
Select item 551534	NM_001164277.2(SLC37A4):c.1175G>A (p.Ser392Asn)	SLC37A4 (S392N +2 more)	Single nucleotide variant (missense variant)	Phosphate transport defect +2 more	GUncertain significance
Select item 550621	NM_001164277.2(SLC37A4):c.901C>G (p.His301Asp)	SLC37A4 (H301D +1 more)	Single nucleotide variant (missense variant)	Phosphate transport defect +2 more	GUncertain significance
Select item 529222	NM_001164277.2(SLC37A4):c.205G>T (p.Val69Leu)	SLC37A4 (V69L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 302706	NM_001164277.2(SLC37A4):c.492C>T (p.Ser164=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type I +4 more	GConflicting classifications of pathogenicity
Select item 215179	NM_001164277.2(SLC37A4):c.956G>A (p.Arg319Gln)	SLC37A4 (R319Q +1 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect +3 more	GUncertain significance
Select item 215178	NM_001164277.2(SLC37A4):c.497G>A (p.Arg166His)	SLC37A4 (R166H +1 more)	Single nucleotide variant (missense variant)	Phosphate transport defect +4 more	GConflicting classifications of pathogenicity
Select item 215177	NM_001164277.2(SLC37A4):c.467C>T (p.Ala156Val)	SLC37A4 (A156V +1 more)	Single nucleotide variant (missense variant)	Phosphate transport defect +4 more	GConflicting classifications of pathogenicity
Select item 215176	NM_001164277.2(SLC37A4):c.433A>G (p.Met145Val)	SLC37A4 (M145V +1 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect +3 more	GUncertain significance
Select item 188799	NM_001164277.2(SLC37A4):c.923_934dup (p.Met308_Met311dup)	SLC37A4	Duplication (inframe_insertion)	SLC37A4-related condition +1 more	GConflicting classifications of pathogenicity
Select item 139193	NM_001164277.2(SLC37A4):c.1275C>T (p.Ser425=)	SLC37A4	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 139192	NM_001164277.2(SLC37A4):c.1224G>A (p.Thr408=)	SLC37A4	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 139191	NM_001164277.2(SLC37A4):c.1062C>T (p.Asn354=)	SLC37A4	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 139190	NM_001164277.2(SLC37A4):c.626+19C>T	SLC37A4	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 139189	NM_001164277.2(SLC37A4):c.626+14C>T	SLC37A4	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 139186	NM_001164277.2(SLC37A4):c.149-14A>G	SLC37A4	Single nucleotide variant (intron variant)	Phosphate transport defect +5 more	GBenign/Likely benign
Select item 68294	NM_001164277.2(SLC37A4):c.899G>A (p.Arg300His)	SLC37A4 (R300H +1 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect +4 more	GPathogenic/Likely pathogenic
Select item 68291	NM_001164277.2(SLC37A4):c.82C>T (p.Arg28Cys)	SLC37A4 (R28C)	Single nucleotide variant (missense variant +1 more)	Glucose-6-phosphate transport defect +2 more	GPathogenic
Select item 68286	NM_001164277.2(SLC37A4):c.59G>A (p.Gly20Asp)	SLC37A4 (G20D)	Single nucleotide variant (missense variant +1 more)	Glucose-6-phosphate transport defect +3 more	GPathogenic/Likely pathogenic
Select item 68281	NM_001164277.2(SLC37A4):c.448G>A (p.Gly150Arg)	SLC37A4 (G150R +1 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect +2 more	GPathogenic/Likely pathogenic
Select item 68272	NM_001164277.2(SLC37A4):c.149G>A (p.Gly50Glu)	SLC37A4 (G50E)	Single nucleotide variant (missense variant +1 more)	Phosphate transport defect +3 more	GUncertain significance
Select item 6935	NM_001164277.2(SLC37A4):c.1016G>A (p.Gly339Asp)	SLC37A4 (G339D +2 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation, type IIw +3 more	GPathogenic/Likely pathogenic
Select item 6934	NM_001164277.2(SLC37A4):c.1243C>T (p.Arg415Ter)	SLC37A4 (R415* +2 more)	Single nucleotide variant (nonsense)	Congenital disorder of glycosylation, type IIw +2 more	GPathogenic/Likely pathogenic
Select item 6933	NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His)	SLC37A4 (R28H)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation, type IIw +3 more	GPathogenic/Likely pathogenic
Select item 6932	NM_001164277.2(SLC37A4):c.148+1G>A	SLC37A4	Single nucleotide variant (intron variant +1 more)	Congenital disorder of glycosylation, type IIw +2 more	GPathogenic/Likely pathogenic
Select item 6928	NM_001164277.2(SLC37A4):c.287G>A (p.Trp96Ter)	SLC37A4 (W96* +1 more)	Single nucleotide variant (nonsense)	Glycogen storage disease, type I +1 more	GConflicting classifications of pathogenicity
Select item 6926	NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs)	SLC37A4 (L275fs +2 more)	Deletion (frameshift variant)	Congenital disorder of glycosylation, type IIw +5 more	GPathogenic

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Items: 74