"Illumina Laboratory Services, Illumina"[submitter] AND "SLC26A4-AS1"[ - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 43485	NM_000441.1(SLC26A4):c.-189A>T	SLC26A4-AS1, SLC26A4	Single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 4 +2 more	GUncertain significance
Select item 358491	NM_000441.1(SLC26A4):c.-186A>G	SLC26A4, SLC26A4-AS1	Single nucleotide variant	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GUncertain significance
Select item 358492	NM_000441.1(SLC26A4):c.-139C>T	SLC26A4-AS1, SLC26A4	Single nucleotide variant	Pendred syndrome +2 more	GUncertain significance
Select item 4838	NM_000441.1(SLC26A4):c.-103T>C	SLC26A4, SLC26A4-AS1	Single nucleotide variant	Pendred syndrome	GUncertain significance FDA Recognized database
Select item 43487	NM_000441.2(SLC26A4):c.-66C>G	SLC26A4, SLC26A4-AS1	Single nucleotide variant	not specified +3 more	GBenign/Likely benign
Select item 910617	NM_000441.1(SLC26A4):c.-40C>T	SLC26A4, SLC26A4-AS1	Single nucleotide variant	Pendred syndrome +1 more	GUncertain significance
Select item 358493	NM_000441.2(SLC26A4):c.-8G>A	SLC26A4, SLC26A4-AS1	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GUncertain significance
Select item 43515	NM_000441.2(SLC26A4):c.15C>A (p.Gly5=)	SLC26A4, SLC26A4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 43524	NM_000441.2(SLC26A4):c.17G>T (p.Gly6Val)	SLC26A4, SLC26A4-AS1 (G6V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
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)	Rare genetic deafness +4 more	GPathogenic/Likely pathogenic
Select item 227949	NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg)	SLC26A4-AS1, SLC26A4 (S49R)	Single nucleotide variant (missense variant +1 more)	Pendred syndrome	GLikely benign FDA Recognized database