"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "SLC26A4"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 4839	NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln)	SLC26A4, SLC26A4-AS1 (E29Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive nonsyndromic hearing loss 4 +4 more	GPathogenic/Likely pathogenic
Select item 4820	NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly)	SLC26A4 (E384G)	Single nucleotide variant (missense variant)	Pendred syndrome +4 more	GPathogenic/Likely pathogenic
Select item 43496	NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His)	SLC26A4 (R409H)	Single nucleotide variant (missense variant)	Pendred syndrome +5 more	GPathogenic/Likely pathogenic
Select item 1331489	NM_000441.2(SLC26A4):c.1286C>A (p.Ala429Glu)	SLC26A4 (A429E)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1033029	NM_000441.2(SLC26A4):c.1615-2A>G	SLC26A4	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3379786	NM_000441.2(SLC26A4):c.2062G>A (p.Val688Met)	SLC26A4 (V688M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar