"Genome-Nilou Lab"[submitter] AND "CDH23"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 670320	NM_022124.6(CDH23):c.-5-83C>A	CDH23	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 162864	NM_022124.6(CDH23):c.-1C>T	CDH23	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 12 +3 more	GBenign
Select item 46042	NM_022124.6(CDH23):c.7C>T (p.Arg3Cys)	CDH23 (R3C)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12 +3 more	GBenign
Select item 678765	NM_022124.6(CDH23):c.146-125T>C	CDH23, CDH23-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Pituitary adenoma 5, multiple types +3 more	GBenign
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 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 45940	NM_022124.6(CDH23):c.429+13G>A	CDH23, CDH23-AS1	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 12 +3 more	GBenign
Select item 261548	NM_022124.6(CDH23):c.429+26A>G	CDH23, CDH23-AS1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1195971	NM_022124.6(CDH23):c.605A>C (p.Gln202Pro)	CDH23 (Q202P)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +1 more	GUncertain significance
Select item 1177610	NM_022124.6(CDH23):c.624+64C>T	CDH23	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 12 +3 more	GBenign/Likely benign
Select item 1177611	NM_022124.6(CDH23):c.625-93G>A	CDH23	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 12 +2 more	GBenign
Select item 1177612	NM_022124.6(CDH23):c.832+101G>A	CDH23	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 12 +3 more	GBenign
Select item 1195935	NM_022124.6(CDH23):c.845G>A (p.Ser282Asn)	CDH23 (S282N)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +1 more	GUncertain significance
Select item 45861	NM_022124.6(CDH23):c.1078C>T (p.Leu360=)	CDH23	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 670322	NM_022124.6(CDH23):c.1134+164C>G	CDH23	Single nucleotide variant (intron variant +1 more)	not provided +3 more	GBenign
Select item 678766	NM_022124.6(CDH23):c.1135-128A>G	CDH23	Single nucleotide variant (intron variant)	Pituitary adenoma 5, multiple types +3 more	GBenign
Select item 678781	NM_022124.6(CDH23):c.1290+217T>C	CDH23	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 12 +2 more	GBenign
Select item 45866	NM_022124.6(CDH23):c.1307G>A (p.Ser436Asn)	CDH23 (S436N)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 45870	NM_022124.6(CDH23):c.1449+130T>C	CDH23	Single nucleotide variant (synonymous variant +1 more)	Usher syndrome type 1D +4 more	GBenign
Select item 45872	NM_022124.6(CDH23):c.1469G>C (p.Gly490Ala)	CDH23 (G490A)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +5 more	GBenign
Select item 45873	NM_022124.6(CDH23):c.1472C>T (p.Thr491Ile)	CDH23 (T491I)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 45875	NM_022124.6(CDH23):c.1487G>A (p.Ser496Asn)	CDH23 (S496N)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +3 more	GBenign
Select item 1195951	NM_022124.6(CDH23):c.1666G>A (p.Asp556Asn)	CDH23 (D556N)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12 +1 more	GUncertain significance
Select item 228485	NM_022124.6(CDH23):c.1672G>A (p.Val558Met)	CDH23 (V558M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 45881	NM_022124.6(CDH23):c.1685A>G (p.Gln562Arg)	CDH23 (Q562R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12 +3 more	GUncertain significance
Select item 670323	NM_022124.6(CDH23):c.1753-78A>T	CDH23	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 261543	NM_022124.6(CDH23):c.1753-43T>C	CDH23	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 12 +3 more	GBenign
Select item 45883	NM_022124.6(CDH23):c.1814C>T (p.Ala605Val)	CDH23 (A605V)	Single nucleotide variant (missense variant)	CDH23-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 1177628	NM_022124.6(CDH23):c.1987-123G>A	CDH23	Single nucleotide variant (intron variant)	Usher syndrome type 1D +2 more	GBenign/Likely benign
Select item 678782	NM_022124.6(CDH23):c.2059+79C>T	CDH23	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 12 +2 more	GBenign
Select item 1177629	NM_022124.6(CDH23):c.2060-176C>T	CDH23	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 136700	NM_022124.6(CDH23):c.2060-19C>G	CDH23	Single nucleotide variant (intron variant)	Usher syndrome type 1D +3 more	GBenign
Select item 1143151	NM_022124.6(CDH23):c.2100C>T (p.Arg700=)	CDH23	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 300412	NM_022124.6(CDH23):c.2235C>T (p.Ile745=)	CDH23	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 12 +2 more	GConflicting classifications of pathogenicity
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 45893	NM_022124.6(CDH23):c.2316T>C (p.Asn772=)	CDH23	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 45896	NM_022124.6(CDH23):c.2388T>C (p.Asp796=)	CDH23	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 12 +3 more	GBenign
Select item 261545	NM_022124.6(CDH23):c.2397+26T>C	CDH23	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 12 +3 more	GBenign
Select item 45897	NM_022124.6(CDH23):c.2424G>A (p.Gly808=)	CDH23	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 12 +3 more	GBenign
Select item 1195973	NM_022124.6(CDH23):c.2432G>A (p.Gly811Asp)	CDH23 (G811D)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +1 more	GUncertain significance
Select item 517319	NM_022124.6(CDH23):c.2551G>A (p.Glu851Lys)	CDH23 (E851K)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1195937	NM_022124.6(CDH23):c.2782C>T (p.Arg928Cys)	CDH23 (R928C)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +2 more	GUncertain significance
Select item 1195908	NM_022124.6(CDH23):c.2817C>T (p.Leu939=)	CDH23	Single nucleotide variant (synonymous variant)	Usher syndrome type 1D +1 more	GUncertain significance
Select item 1195907	NM_022124.6(CDH23):c.2833G>A (p.Gly945Ser)	CDH23 (G945S)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +2 more	GUncertain significance
Select item 504554	NM_022124.6(CDH23):c.2926A>G (p.Ser976Gly)	CDH23 (S976G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 44110	NM_022124.6(CDH23):c.2970C>T (p.Asp990=)	CDH23	Single nucleotide variant (synonymous variant)	Usher syndrome type 1D +3 more	GConflicting classifications of pathogenicity
Select item 44111	NM_022124.6(CDH23):c.3009T>C (p.Ser1003=)	CDH23	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 45908	NM_022124.6(CDH23):c.3074G>A (p.Gly1025Asp)	CDH23 (G1025D)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +4 more	GConflicting classifications of pathogenicity
Select item 676346	NM_022124.6(CDH23):c.3370-46T>C	C10orf105, CDH23	Single nucleotide variant (intron variant)	Usher syndrome type 1D +2 more	GBenign
Select item 1177634	NM_022124.6(CDH23):c.3430+114T>C	C10orf105, CDH23	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 12 +2 more	GBenign
Select item 1177635	NM_022124.6(CDH23):c.3431-205A>C	C10orf105, CDH23	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1177636	NM_022124.6(CDH23):c.3431-133T>C	C10orf105, CDH23	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 12 +2 more	GBenign/Likely benign
Select item 45927	NM_022124.6(CDH23):c.3664G>A (p.Ala1222Thr)	C10orf105, CDH23 (A1222T)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1D +3 more	GBenign/Likely benign
Select item 45937	NM_022124.6(CDH23):c.4051A>G (p.Asn1351Asp)	C10orf105, CDH23 (N1351D)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign
Select item 1195970	NM_022124.6(CDH23):c.4183G>A (p.Gly1395Ser)	C10orf105, CDH23 (G1395S)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1D +1 more	GUncertain significance
Select item 670326	NM_022124.6(CDH23):c.4206+61T>A	C10orf105, CDH23	Single nucleotide variant (intron variant)	Usher syndrome type 1D +2 more	GBenign
Select item 678773	NM_022124.6(CDH23):c.4206+131T>C	C10orf105, CDH23	Single nucleotide variant (intron variant)	Pituitary adenoma 5, multiple types +3 more	GBenign
Select item 1195972	NM_022124.6(CDH23):c.4286C>G (p.Pro1429Arg)	CDH23 (P1429R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 45942	NM_022124.6(CDH23):c.4299T>A (p.Pro1433=)	CDH23	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 12 +3 more	GBenign
Select item 45944	NM_022124.6(CDH23):c.4310G>A (p.Arg1437Gln)	CDH23 (R1437Q)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 261549	NM_022124.6(CDH23):c.4488+32C>G	CDH23	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 12 +3 more	GBenign
Select item 179345	NM_022124.6(CDH23):c.4589C>T (p.Pro1530Leu)	CDH23 (P1530L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 678784	NM_022124.6(CDH23):c.4618-77C>T	CDH23	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 12 +2 more	GBenign
Select item 1195905	NM_022124.6(CDH23):c.4663C>G (p.Arg1555Gly)	CDH23 (R1555G)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12 +1 more	GUncertain significance
Select item 45955	NM_022124.6(CDH23):c.4723G>A (p.Ala1575Thr)	CDH23 (A1575T)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12 +4 more	GBenign
Select item 1177593	NM_022124.6(CDH23):c.4846-79G>A	CDH23	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 261550	NM_022124.6(CDH23):c.4846-49T>C	CDH23	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 12 +3 more	GBenign
Select item 45957	NM_022124.6(CDH23):c.4858G>A (p.Val1620Met)	CDH23 (V1620M)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +4 more	GBenign/Likely benign
Select item 178305	NM_022124.6(CDH23):c.4892C>T (p.Ala1631Val)	CDH23 (A1631V)	Single nucleotide variant (missense variant)	CDH23-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 45960	NM_022124.6(CDH23):c.5023G>A (p.Val1675Ile)	CDH23 (V1675I)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12 +3 more	GBenign
Select item 45961	NM_022124.6(CDH23):c.5026G>A (p.Ala1676Thr)	CDH23 (A1676T)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12 +3 more	GConflicting classifications of pathogenicity
Select item 1195934	NM_022124.6(CDH23):c.5030G>A (p.Gly1677Asp)	CDH23 (G1677D)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 45964	NM_022124.6(CDH23):c.5066T>C (p.Met1689Thr)	CDH23 (M1689T)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12 +3 more	GConflicting classifications of pathogenicity
Select item 45965	NM_022124.6(CDH23):c.5100C>T (p.Tyr1700=)	CDH23	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 261551	NM_022124.6(CDH23):c.5187+44C>G	CDH23	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 12 +3 more	GBenign
Select item 676653	NM_022124.6(CDH23):c.5187+73C>T	CDH23	Single nucleotide variant (intron variant)	Usher syndrome type 1D +2 more	GBenign
Select item 1177613	NM_022124.6(CDH23):c.5187+99T>C	CDH23	Single nucleotide variant (intron variant)	Usher syndrome type 1D +3 more	GBenign
Select item 45978	NM_022124.6(CDH23):c.5411G>A (p.Arg1804Gln)	CDH23 (R1804Q)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
Select item 45976	NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu)	CDH23 (D1806E)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12 +4 more	GBenign/Likely benign
Select item 261552	NM_022124.6(CDH23):c.5503-44T>C	CDH23	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 12 +3 more	GBenign
Select item 45982	NM_022124.6(CDH23):c.5503-10A>G	CDH23	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 12 +3 more	GBenign
Select item 45986	NM_022124.6(CDH23):c.5544C>T (p.Asp1848=)	CDH23	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1195950	NM_022124.6(CDH23):c.5953A>T (p.Ile1985Phe)	CDH23 (I1985F)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +1 more	GUncertain significance
Select item 45997	NM_022124.6(CDH23):c.5996C>G (p.Thr1999Ser)	CDH23 (T1999S)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +3 more	GBenign
Select item 1210373	NM_022124.6(CDH23):c.6047C>T (p.Thr2016Ile)	CDH23 (T2016I)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +1 more	GUncertain significance
Select item 46002	NM_022124.6(CDH23):c.6130G>A (p.Glu2044Lys)	CDH23 (E2044K)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
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 597171	NM_022124.6(CDH23):c.6446G>A (p.Arg2149Gln)	CDH23 (R2149Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 678790	NM_022124.6(CDH23):c.6830-81G>A	CDH23	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 12 +2 more	GBenign
Select item 46019	NM_022124.6(CDH23):c.6847G>A (p.Val2283Ile)	CDH23 (V2283I +1 more)	Single nucleotide variant (genic upstream transcript variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 46022	NM_022124.6(CDH23):c.6918G>A (p.Leu2306=)	CDH23	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 46025	NM_022124.6(CDH23):c.7055-16A>G	CDH23	Single nucleotide variant (intron variant)	Usher syndrome type 1D +4 more	GBenign
Select item 46026	NM_022124.6(CDH23):c.7073G>A (p.Arg2358Gln)	CDH23 (R2358Q +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +3 more	GBenign
Select item 46028	NM_022124.6(CDH23):c.7139C>T (p.Pro2380Leu)	CDH23 (P2380L +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa-deafness syndrome +4 more	GBenign
Select item 261554	NM_022124.6(CDH23):c.7225-22C>T	CDH23	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 12 +3 more	GBenign
Select item 1064756	NM_022124.6(CDH23):c.7393C>T (p.Arg2465Trp)	CDH23 (R225W +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +1 more	GUncertain significance
Select item 46031	NM_022124.6(CDH23):c.7467C>T (p.Arg2489=)	CDH23	Single nucleotide variant (synonymous variant)	Usher syndrome type 1D +3 more	GBenign/Likely benign
Select item 46032	NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys)	CDH23 (E2490K +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 46038	NM_022124.6(CDH23):c.7762G>C (p.Glu2588Gln)	CDH23 (E2588Q +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12 +3 more	GConflicting classifications of pathogenicity
Select item 46040	NM_022124.6(CDH23):c.7823G>A (p.Arg2608His)	CDH23 (R2608H +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa-deafness syndrome +7 more	GConflicting classifications of pathogenicity

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