"Fulgent Genetics, Fulgent Genetics"[submitter] AND "SLC4A4"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 780466	NM_001098484.3(SLC4A4):c.550+3A>G	SLC4A4	Single nucleotide variant (intron variant)	Autosomal recessive proximal renal tubular acidosis +1 more	GBenign/Likely benign
Select item 780928	NM_001098484.3(SLC4A4):c.678C>T (p.Asp226=)	SLC4A4	Single nucleotide variant (synonymous variant)	Autosomal recessive proximal renal tubular acidosis +2 more	GBenign/Likely benign
Select item 349536	NM_001098484.3(SLC4A4):c.742A>G (p.Met248Val)	SLC4A4 (M204V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 907731	NM_001098484.3(SLC4A4):c.807+13T>G	SLC4A4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 734122	NM_001098484.3(SLC4A4):c.1275C>T (p.His425=)	SLC4A4	Single nucleotide variant (synonymous variant)	Autosomal recessive proximal renal tubular acidosis +1 more	GBenign/Likely benign
Select item 1651859	NM_001098484.3(SLC4A4):c.1322+15C>T	SLC4A4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 904401	NM_001098484.3(SLC4A4):c.1323G>A (p.Arg441=)	SLC4A4	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 905200	NM_001098484.3(SLC4A4):c.1900C>T (p.Pro634Ser)	LOC126807073, SLC4A4 (P590S +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 775987	NM_001098484.3(SLC4A4):c.2176C>T (p.Leu726=)	SLC4A4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 725581	NM_001098484.3(SLC4A4):c.2241C>A (p.Gly747=)	SLC4A4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 788523	NM_001098484.3(SLC4A4):c.2272G>C (p.Glu758Gln)	SLC4A4 (E714Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 710952	NM_001098484.3(SLC4A4):c.2436A>G (p.Lys812=)	SLC4A4	Single nucleotide variant (synonymous variant)	Autosomal recessive proximal renal tubular acidosis +1 more	GBenign/Likely benign
Select item 349551	NM_001098484.3(SLC4A4):c.2485C>A (p.Leu829Ile)	SLC4A4 (L829I +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 349552	NM_001098484.3(SLC4A4):c.2503C>T (p.Leu835Phe)	SLC4A4 (L791F +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance
Select item 1310941	NM_001098484.3(SLC4A4):c.2774G>A (p.Arg925His)	SLC4A4 (R881H +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive proximal renal tubular acidosis +1 more	GUncertain significance
Select item 1601697	NM_001098484.3(SLC4A4):c.3099+15A>G	SLC4A4	Single nucleotide variant (intron variant)	Autosomal recessive proximal renal tubular acidosis +1 more	GBenign/Likely benign
Select item 904462	NM_001098484.3(SLC4A4):c.3227A>G (p.His1076Arg)	SLC4A4 (H1032R +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive proximal renal tubular acidosis	GUncertain significance