"Illumina Laboratory Services, Illumina"[submitter] AND "CDH23-AS1"[ge - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 45882	NM_022124.6(CDH23):c.173A>G (p.Gln58Arg)	CDH23, CDH23-AS1 (Q58R)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +3 more	GBenign/Likely benign
Select item 45885	NM_022124.6(CDH23):c.198G>A (p.Val66=)	CDH23, CDH23-AS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 45887	NM_022124.6(CDH23):c.204C>T (p.Gly68=)	CDH23-AS1, CDH23	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 878361	NM_022124.6(CDH23):c.205G>A (p.Val69Met)	CDH23, CDH23-AS1 (V69M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 497239	NM_022124.6(CDH23):c.259G>T (p.Val87Leu)	CDH23, CDH23-AS1 (V87L)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 300398	NM_022124.6(CDH23):c.321C>G (p.Val107=)	CDH23, CDH23-AS1	Single nucleotide variant (synonymous variant)	CDH23-Related Disorders +3 more	GConflicting classifications of pathogenicity
Select item 747502	NM_022124.6(CDH23):c.324C>T (p.Ser108=)	CDH23, CDH23-AS1	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 12 +2 more	GConflicting classifications of pathogenicity
Select item 45928	NM_022124.6(CDH23):c.366T>C (p.Val122=)	CDH23, CDH23-AS1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 300399	NM_022124.6(CDH23):c.367G>C (p.Gly123Arg)	CDH23-AS1, CDH23 (G123R)	Single nucleotide variant (missense variant)	CDH23-Related Disorders +2 more	GUncertain significance
Select item 178884	NM_022124.6(CDH23):c.367G>A (p.Gly123Arg)	CDH23, CDH23-AS1 (G123R)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 178293	NM_022124.6(CDH23):c.385G>A (p.Ala129Thr)	CDH23, CDH23-AS1 (A129T)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 300400	NM_022124.6(CDH23):c.386C>T (p.Ala129Val)	CDH23, CDH23-AS1 (A129V)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +2 more	GUncertain significance
Select item 45941	NM_022124.6(CDH23):c.429+4G>A	CDH23, CDH23-AS1	Single nucleotide variant (intron variant)	Nonsyndromic genetic hearing loss	GBenign FDA Recognized database
Select item 45940	NM_022124.6(CDH23):c.429+13G>A	CDH23, CDH23-AS1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign