"MVZ Dr. Eberhard & Partner Dortmund"[submitter] AND "SLC4A1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 996359	NM_000342.4(SLC4A1):c.2285G>A (p.Ser762Asn)	SLC4A1 (S762N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1676823	NM_000342.4(SLC4A1):c.2100del (p.Gly701fs)	SLC4A1 (G701fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2775423	NM_000342.4(SLC4A1):c.1782C>G (p.Ser594Arg)	SLC4A1 (S594R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 996354	NM_000342.4(SLC4A1):c.699_703del (p.Ala234fs)	SLC4A1 (A234fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 624572	NM_000342.4(SLC4A1):c.349+1G>A	SLC4A1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic/Likely pathogenic
Select item 624573	NM_000342.3(SLC4A1):c.-195A>G	SLC4A1	Single nucleotide variant	not provided	GUncertain significance

ClinVar