CN239421[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 4835	NM_000441.2(SLC26A4):c.412G>T (p.Val138Phe)	SLC26A4 (V138F)	Single nucleotide variant (missense variant)	Pendred syndrome	GPathogenic FDA Recognized database
Select item 188878	NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr)	SLC26A4 (R185T)	Single nucleotide variant (missense variant)	Pendred syndrome	GLikely pathogenic FDA Recognized database
Select item 4821	NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val)	SLC26A4 (G209V)	Single nucleotide variant (missense variant)	Rare genetic deafness +4 more	GPathogenic/Likely pathogenic
Select item 4817	NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro)	SLC26A4 (L236P)	Single nucleotide variant (missense variant)	Rare genetic deafness +6 more	GPathogenic/Likely pathogenic
Select item 4819	NM_000441.2(SLC26A4):c.1001+1G>A	SLC26A4	Single nucleotide variant (splice donor variant)	Rare genetic deafness +4 more	GPathogenic
Select item 4842	NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu)	SLC26A4 (F335L)	Single nucleotide variant (missense variant)	Pendred syndrome	GLikely pathogenic FDA Recognized database
Select item 4820	NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly)	SLC26A4 (E384G)	Single nucleotide variant (missense variant)	Rare genetic deafness +4 more	GPathogenic/Likely pathogenic
Select item 43495	NM_000441.2(SLC26A4):c.1204G>A (p.Val402Met)	SLC26A4 (V402M)	Single nucleotide variant (missense variant)	Pendred syndrome	GPathogenic FDA Recognized database
Select item 4818	NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro)	SLC26A4 (T416P)	Single nucleotide variant (missense variant)	Rare genetic deafness +4 more	GConflicting classifications of pathogenicity
Select item 632496	NM_000441.2(SLC26A4):c.1804-6G>A	SLC26A4	Single nucleotide variant (intron variant)	SLC26A4-Related Disorders +1 more	GConflicting classifications of pathogenicity
Select item 4825	NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg)	LOC123956210, SLC26A4 (H723R)	Single nucleotide variant (missense variant)	Rare genetic deafness +4 more	GPathogenic/Likely pathogenic
Select item 228396	NM_000441.2(SLC26A4):c.2171A>G (p.Asp724Gly)	LOC123956210, SLC26A4 (D724G)	Single nucleotide variant (missense variant)	SLC26A4-Related Disorders +4 more	GPathogenic/Likely pathogenic