C0342749[trait identifier] AND "OMIM"[submitter] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 6926	NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs)	SLC37A4 (L275fs +2 more)	Deletion (frameshift variant)	Glucose-6-phosphate transport defect +5 more	GPathogenic
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 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 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 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 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