"Blueprint Genetics"[submitter] AND "CDH23"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 867202	NM_022124.6(CDH23):c.336+1G>T	CDH23, CDH23-AS1	Single nucleotide variant (splice donor variant)	Retinal dystrophy	GLikely pathogenic
Select item 866055	NM_022124.6(CDH23):c.849del (p.Phe284fs)	CDH23 (F284fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 867203	NM_022124.6(CDH23):c.2060-1G>A	CDH23	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy	GLikely pathogenic
Select item 866850	NM_022124.6(CDH23):c.2132_2139del (p.Ile710_Tyr711insTer)	CDH23	Deletion (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 236429	NM_022124.6(CDH23):c.2398-1G>T	CDH23	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 162905	NM_022124.6(CDH23):c.3230C>T (p.Pro1077Leu)	C10orf105, CDH23 (P1077L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 45916	NM_022124.6(CDH23):c.3361A>T (p.Ile1121Phe)	C10orf105, CDH23 (I1121F)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 865909	NM_022124.6(CDH23):c.3369+1G>A	C10orf105, CDH23	Single nucleotide variant (3 prime UTR variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 866891	NM_022124.6(CDH23):c.3417C>A (p.Tyr1139Ter)	C10orf105, CDH23 (Y1139*)	Single nucleotide variant (nonsense +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 866906	NM_022124.6(CDH23):c.5187+1G>A	CDH23	Single nucleotide variant (splice donor variant)	Retinal dystrophy +1 more	GLikely pathogenic
Select item 4916	NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln)	CDH23 (R1746Q)	Single nucleotide variant (missense variant)	Childhood onset hearing loss +9 more	GPathogenic
Select item 178309	NM_022124.6(CDH23):c.6050-15G>A	CDH23	Single nucleotide variant (intron variant)	Retinal dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 866900	NM_022124.6(CDH23):c.6050-1G>A	CDH23	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 866746	NM_022124.6(CDH23):c.6334G>A (p.Ala2112Thr)	CDH23 (A2112T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 866839	NM_022124.6(CDH23):c.6343C>T (p.Arg2115Cys)	CDH23 (R2115C)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +2 more	GUncertain significance
Select item 866405	NM_022124.6(CDH23):c.6393del (p.Ile2132fs)	CDH23 (I2132fs)	Deletion (frameshift variant)	Retinal dystrophy +2 more	GPathogenic
Select item 865850	NM_022124.6(CDH23):c.6435_6463del (p.Ala2146fs)	CDH23 (A2146fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 865851	NM_022124.6(CDH23):c.6838_6841del (p.Thr2280fs)	CDH23 (T2280fs +1 more)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 866847	NM_022124.6(CDH23):c.8065-5C>A	CDH23	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 228504	NM_022124.6(CDH23):c.8322GAA[1] (p.Lys2775del)	CDH23 (K2775del +1 more)	Microsatellite (inframe_deletion)	Retinal dystrophy +1 more	GUncertain significance
Select item 866653	NM_022124.6(CDH23):c.8497C>T (p.Arg2833Cys)	CDH23 (R2833C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 620124	NM_022124.6(CDH23):c.8803C>T (p.Arg2935Ter)	CDH23 (R2935* +1 more)	Single nucleotide variant (nonsense)	Pituitary adenoma 5, multiple types +2 more	GPathogenic
Select item 178313	NM_022124.6(CDH23):c.9094G>A (p.Asp3032Asn)	CDH23 (D3032N +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 866890	NM_022124.6(CDH23):c.9198+2T>A	CDH23	Single nucleotide variant (splice donor variant)	Retinal dystrophy	GLikely pathogenic

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Items: 24