"King Laboratory, University of Washington"[submitter] AND "CDH23"[gen - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 228491	NM_022124.6(CDH23):c.380A>G (p.Asp127Gly)	CDH23, CDH23-AS1 (D127G)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely pathogenic FDA Recognized database
Select item 402247	NM_022124.6(CDH23):c.683A>T (p.Asp228Val)	CDH23 (D228V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12	GLikely pathogenic
Select item 402250	NM_022124.6(CDH23):c.1036C>T (p.Pro346Ser)	CDH23 (P346S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12 +1 more	GPathogenic/Likely pathogenic
Select item 402251	NM_022124.6(CDH23):c.1037C>T (p.Pro346Leu)	CDH23 (P346L)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12 +1 more	GPathogenic/Likely pathogenic
Select item 402252	NM_022124.6(CDH23):c.1675C>T (p.Pro559Ser)	CDH23 (P559S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12	GLikely pathogenic
Select item 1036903	NM_022124.6(CDH23):c.2959G>A (p.Asp987Asn)	CDH23 (D987N)	Single nucleotide variant (missense variant)	Pituitary adenoma 5, multiple types +3 more	GConflicting classifications of pathogenicity
Select item 1334115	NM_022124.6(CDH23):c.3211G>A (p.Glu1071Lys)	CDH23 (E1071K)	Single nucleotide variant (missense variant)	Usher syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1180612	NM_022124.6(CDH23):c.4562A>G (p.Asn1521Ser)	CDH23 (N1521S)	Single nucleotide variant (missense variant)	Ear malformation +3 more	GPathogenic/Likely pathogenic
Select item 402248	NM_022124.6(CDH23):c.5749G>A (p.Glu1917Lys)	CDH23 (E1917K)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1477521	NM_022124.6(CDH23):c.6533T>A (p.Ile2178Asn)	CDH23 (I2178N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 46014	NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu)	CDH23 (P2205L)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 2445640	NM_022124.6(CDH23):c.6965A>T (p.Asp2322Val)	CDH23 (D82V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12	GLikely pathogenic
Select item 2445641	NM_022124.6(CDH23):c.7826C>T (p.Pro2609Leu)	CDH23 (P2609L +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12	GLikely pathogenic
Select item 1334116	NM_022124.6(CDH23):c.8140G>T (p.Asp2714Tyr)	CDH23 (D2714Y +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12	GLikely pathogenic
Select item 402249	NM_022124.6(CDH23):c.8204T>C (p.Leu2735Pro)	CDH23 (L2735P +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12	GLikely pathogenic
Select item 2159487	NM_022124.6(CDH23):c.8377C>T (p.Arg2793Trp)	CDH23 (R553W +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12 +1 more	GConflicting classifications of pathogenicity