"GeneDx"[submitter] AND "SLC5A1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1286065	NC_000022.11:g.32042954T>C	SLC5A1	Single nucleotide variant	not provided	GBenign
Select item 1239985	NM_000343.4(SLC5A1):c.312+317_312+318insAT	SLC5A1	Insertion (intron variant)	not provided	GBenign
Select item 1249868	NM_000343.4(SLC5A1):c.312+329_312+330del	SLC5A1	Deletion (intron variant)	not provided	GBenign
Select item 1275942	NM_000343.4(SLC5A1):c.313-79G>A	SLC5A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227672	NM_000343.4(SLC5A1):c.584-88dup	SLC5A1	Duplication (intron variant)	not provided	GBenign
Select item 1708700	NM_000343.4(SLC5A1):c.625G>A (p.Val209Met)	SLC5A1 (V209M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 992967	NM_000343.4(SLC5A1):c.765C>G (p.Cys255Trp)	SLC5A1 (C128W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1447489	NM_000343.4(SLC5A1):c.1241G>A (p.Arg414His)	SLC5A1 (R287H +1 more)	Single nucleotide variant (missense variant)	Congenital glucose-galactose malabsorption +1 more	GUncertain significance
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic

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