"Clinical Genetics, Academic Medical Center"[submitter] AND "CDH23"[ge - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 740994	NM_022124.6(CDH23):c.387G>A (p.Ala129=)	CDH23, CDH23-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 969101	NM_022124.6(CDH23):c.415G>A (p.Val139Ile)	CDH23-AS1, CDH23 (V139I)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 45966	NM_022124.6(CDH23):c.510C>T (p.Ser170=)	CDH23	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 794976	NM_022124.6(CDH23):c.612G>A (p.Thr204=)	CDH23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 45861	NM_022124.6(CDH23):c.1078C>T (p.Leu360=)	CDH23	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 793283	NM_022124.6(CDH23):c.1090G>A (p.Gly364Ser)	CDH23 (G364S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 44116	NM_022124.6(CDH23):c.1134+22C>T	CDH23 (P386S)	Single nucleotide variant (missense variant +1 more)	CDH23-related disorder +1 more	GBenign/Likely benign
Select item 178298	NM_022124.6(CDH23):c.1227G>A (p.Ala409=)	CDH23	Single nucleotide variant (synonymous variant)	CDH23-related disorder +2 more	GBenign/Likely benign
Select item 45866	NM_022124.6(CDH23):c.1307G>A (p.Ser436Asn)	CDH23 (S436N)	Single nucleotide variant (missense variant)	CDH23-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 46543	NM_022124.6(CDH23):c.1449+74G>T	CDH23 (C508F)	Single nucleotide variant (missense variant +1 more)	CDH23-related disorder +2 more	GBenign/Likely benign
Select item 1129808	NM_022124.6(CDH23):c.1536G>A (p.Thr512=)	CDH23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 45891	NM_022124.6(CDH23):c.2263C>T (p.His755Tyr)	CDH23 (H755Y)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GBenign FDA Recognized database
Select item 45904	NM_022124.6(CDH23):c.2878G>A (p.Glu960Lys)	CDH23 (E960K)	Single nucleotide variant (missense variant)	CDH23-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 1254478	NM_022124.6(CDH23):c.3179G>A (p.Arg1060Gln)	CDH23 (R1060Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 45911	NM_022124.6(CDH23):c.3249G>A (p.Thr1083=)	C10orf105, CDH23	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 179731	NM_022124.6(CDH23):c.4405A>G (p.Ile1469Val)	CDH23 (I1469V)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +3 more	GConflicting classifications of pathogenicity
Select item 989833	NM_022124.6(CDH23):c.4519C>T (p.Arg1507Trp)	CDH23 (R1507W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 178304	NM_022124.6(CDH23):c.4875G>A (p.Val1625=)	CDH23	Single nucleotide variant (synonymous variant)	Usher syndrome type 1D +3 more	GConflicting classifications of pathogenicity
Select item 45961	NM_022124.6(CDH23):c.5026G>A (p.Ala1676Thr)	CDH23 (A1676T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 859233	NM_022124.6(CDH23):c.5117G>A (p.Arg1706His)	CDH23 (R1706H)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12 +3 more	GUncertain significance
Select item 45968	NM_022124.6(CDH23):c.5130C>T (p.Ile1710=)	CDH23	Single nucleotide variant (synonymous variant)	Pituitary adenoma 5, multiple types +4 more	GBenign/Likely benign
Select item 499509	NM_022124.6(CDH23):c.5518C>T (p.Arg1840Trp)	CDH23 (R1840W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 45985	NM_022124.6(CDH23):c.5541C>T (p.Asn1847=)	CDH23	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 45986	NM_022124.6(CDH23):c.5544C>T (p.Asp1848=)	CDH23	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 226498	NM_022124.6(CDH23):c.5871C>G (p.Pro1957=)	CDH23	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 46000	NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser)	CDH23 (G2017S)	Single nucleotide variant (missense variant)	Rare genetic deafness +4 more	GConflicting classifications of pathogenicity
Select item 46001	NM_022124.6(CDH23):c.6050-9G>A	CDH23	Single nucleotide variant (intron variant)	Rare genetic deafness +4 more	GPathogenic
Select item 46015	NM_022124.6(CDH23):c.6648C>T (p.Ala2216=)	CDH23	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 46020	NM_022124.6(CDH23):c.6852G>C (p.Leu2284=)	CDH23	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 46022	NM_022124.6(CDH23):c.6918G>A (p.Leu2306=)	CDH23	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 46024	NM_022124.6(CDH23):c.6990G>T (p.Leu2330=)	CDH23	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 990292	NM_022124.6(CDH23):c.7131C>T (p.Asn2377=)	CDH23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 46036	NM_022124.6(CDH23):c.7630T>C (p.Leu2544=)	CDH23	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 379601	NM_022124.6(CDH23):c.7660+1G>T	CDH23	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 46037	NM_022124.6(CDH23):c.7722C>T (p.Tyr2574=)	CDH23	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 162948	NM_022124.6(CDH23):c.8823C>T (p.Asn2941=)	CDH23	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 46067	NM_022124.6(CDH23):c.9077+7C>T	CDH23	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1284726	NM_022124.6(CDH23):c.9381-144C>A	CDH23	Single nucleotide variant (synonymous variant +1 more)	CDH23-related disorder	GLikely benign
Select item 46074	NM_022124.6(CDH23):c.9501G>A (p.Thr3167=)	CDH23, PSAP	Single nucleotide variant (synonymous variant)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 178315	NM_022124.6(CDH23):c.9629T>C (p.Ile3210Thr)	CDH23, PSAP (I3210T +2 more)	Single nucleotide variant (missense variant)	Atypical Gaucher Disease +8 more	GConflicting classifications of pathogenicity
Select item 46081	NM_022124.6(CDH23):c.9903C>T (p.Pro3301=)	CDH23, PSAP	Single nucleotide variant (synonymous variant)	not specified +8 more	GConflicting classifications of pathogenicity

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Items: 42