"GeneDx"[submitter] AND "CDH23"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 300389	NM_022124.6(CDH23):c.-258G>A	CDH23	Single nucleotide variant (5 prime UTR variant)	Usher syndrome type 1D +2 more	GBenign/Likely benign
Select item 300390	NM_022124.6(CDH23):c.-197GAGCGGC[5]	CDH23	Microsatellite (5 prime UTR variant)	Retinitis pigmentosa-deafness syndrome +3 more	GConflicting classifications of pathogenicity
Select item 300394	NM_022124.6(CDH23):c.-45AGGCG[4]	CDH23	Microsatellite (5 prime UTR variant)	not specified +4 more	GBenign/Likely benign
Select item 300395	NM_022124.6(CDH23):c.-45AGGCG[2]	CDH23	Microsatellite (5 prime UTR variant)	Retinitis pigmentosa-deafness syndrome +3 more	GBenign/Likely benign
Select item 1246349	NM_022124.6(CDH23):c.-35_-34insAGGCG	CDH23	Insertion (5 prime UTR variant)	not provided	GBenign
Select item 300397	NM_022124.6(CDH23):c.-15C>A	CDH23	Single nucleotide variant (5 prime UTR variant)	CDH23-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 680498	NM_022124.6(CDH23):c.-5-251A>G	CDH23	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244165	NM_022124.6(CDH23):c.-5-126T>G	CDH23	Single nucleotide variant (intron variant)	not provided	GBenign
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 46017	NM_022124.6(CDH23):c.67+12C>T	CDH23	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 1169317	NM_022124.6(CDH23):c.67+19G>A	CDH23	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1198209	NM_022124.6(CDH23):c.67+172G>A	CDH23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202687	NM_022124.6(CDH23):c.67+205A>G	CDH23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179476	NM_022124.6(CDH23):c.68-168C>T	CDH23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1291807	NM_022124.6(CDH23):c.68-44T>C	CDH23	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 763397	NM_022124.6(CDH23):c.68-3C>T	CDH23	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 12 +1 more	GConflicting classifications of pathogenicity
Select item 1313357	NM_022124.6(CDH23):c.101A>G (p.His34Arg)	CDH23 (H34R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1204235	NM_022124.6(CDH23):c.145+26C>T	CDH23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678763	NM_022124.6(CDH23):c.145+135C>T	CDH23	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212501	NM_022124.6(CDH23):c.146-153C>A	CDH23, CDH23-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1252341	NM_022124.6(CDH23):c.146-147G>A	CDH23, CDH23-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	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 1203837	NM_022124.6(CDH23):c.146-120C>T	CDH23, CDH23-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 990900	NM_022124.6(CDH23):c.160C>G (p.Gln54Glu)	CDH23, CDH23-AS1 (Q54E)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 45882	NM_022124.6(CDH23):c.173A>G (p.Gln58Arg)	CDH23, CDH23-AS1 (Q58R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12 +3 more	GBenign/Likely benign
Select item 4925	NM_022124.6(CDH23):c.193del (p.Leu65fs)	CDH23, CDH23-AS1 (L65fs)	Deletion (frameshift variant)	not provided	GPathogenic
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, CDH23-AS1	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 12 +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)	Usher syndrome type 1D +2 more	GUncertain significance
Select item 1308098	NM_022124.6(CDH23):c.227G>A (p.Arg76His)	CDH23, CDH23-AS1 (R76H)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12 +3 more	GUncertain significance
Select item 2141921	NM_022124.6(CDH23):c.240G>A (p.Val80=)	CDH23, CDH23-AS1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 421224	NM_022124.6(CDH23):c.268C>T (p.Arg90Trp)	CDH23, CDH23-AS1 (R90W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 45899	NM_022124.6(CDH23):c.269G>A (p.Arg90Gln)	CDH23, CDH23-AS1 (R90Q)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1027560	NM_022124.6(CDH23):c.271C>T (p.Gln91Ter)	CDH23, CDH23-AS1 (Q91*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 379600	NM_022124.6(CDH23):c.288+1G>C	CDH23-AS1, CDH23	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1274700	NM_022124.6(CDH23):c.288+55C>T	CDH23-AS1, CDH23	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200600	NM_022124.6(CDH23):c.288+73G>A	CDH23, CDH23-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1241248	NM_022124.6(CDH23):c.288+253T>G	CDH23, CDH23-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289386	NM_022124.6(CDH23):c.288+275C>G	CDH23, CDH23-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254779	NM_022124.6(CDH23):c.289-314A>C	CDH23, CDH23-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1206989	NM_022124.6(CDH23):c.289-27C>A	CDH23, CDH23-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201045	NM_022124.6(CDH23):c.289-25C>G	CDH23, CDH23-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 162865	NM_022124.6(CDH23):c.325G>A (p.Asp109Asn)	CDH23, CDH23-AS1 (D109N)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 499918	NM_022124.6(CDH23):c.330C>T (p.His110=)	CDH23-AS1, CDH23	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1810575	NM_022124.6(CDH23):c.336+1del	CDH23, CDH23-AS1	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 1310086	NM_022124.6(CDH23):c.346C>T (p.Arg116Trp)	CDH23, CDH23-AS1 (R116W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315155	NM_022124.6(CDH23):c.352G>A (p.Val118Met)	CDH23, CDH23-AS1 (V118M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 178293	NM_022124.6(CDH23):c.385G>A (p.Ala129Thr)	CDH23, CDH23-AS1 (A129T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
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, CDH23-AS1 (V139I)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +4 more	GUncertain significance
Select item 968227	NM_022124.6(CDH23):c.419G>A (p.Arg140His)	CDH23, CDH23-AS1 (R140H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 45941	NM_022124.6(CDH23):c.429+4G>A	CDH23-AS1, CDH23	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)	Autosomal recessive nonsyndromic hearing loss 12 +3 more	GBenign
Select item 1165924	NM_022124.6(CDH23):c.429+18T>C	CDH23, CDH23-AS1	Single nucleotide variant (intron variant)	Usher syndrome type 1D +3 more	GBenign/Likely benign
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 1245819	NM_022124.6(CDH23):c.430-219G>C	CDH23	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267424	NM_022124.6(CDH23):c.430-159C>T	CDH23	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 969524	NM_022124.6(CDH23):c.437C>T (p.Pro146Leu)	CDH23 (P146L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 45951	NM_022124.6(CDH23):c.460G>A (p.Val154Met)	CDH23 (V154M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2501543	NM_022124.6(CDH23):c.474C>A (p.Asp158Glu)	CDH23 (D158E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 418115	NM_022124.6(CDH23):c.494G>T (p.Gly165Val)	CDH23 (G165V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 45966	NM_022124.6(CDH23):c.510C>T (p.Ser170=)	CDH23	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 12 +3 more	GConflicting classifications of pathogenicity
Select item 1060714	NM_022124.6(CDH23):c.518C>T (p.Pro173Leu)	CDH23 (P173L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 178294	NM_022124.6(CDH23):c.551G>A (p.Arg184His)	CDH23 (R184H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 178295	NM_022124.6(CDH23):c.574G>C (p.Glu192Gln)	CDH23 (E192Q)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2200828	NM_022124.6(CDH23):c.611C>T (p.Thr204Met)	CDH23 (T204M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2136137	NM_022124.6(CDH23):c.617A>G (p.Asn206Ser)	CDH23 (N206S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 422135	NM_022124.6(CDH23):c.617A>C (p.Asn206Thr)	CDH23 (N206T)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 198586	NM_022124.6(CDH23):c.619G>A (p.Ala207Thr)	CDH23 (A207T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 666805	NM_022124.6(CDH23):c.623C>T (p.Thr208Ile)	CDH23 (T208I)	Single nucleotide variant (missense variant)	not specified +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 1274715	NM_022124.6(CDH23):c.625-244C>T	CDH23	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274615	NM_022124.6(CDH23):c.625-138G>A	CDH23	Single nucleotide variant (intron variant)	not provided	GBenign
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 4928	NM_022124.6(CDH23):c.719C>T (p.Pro240Leu)	CDH23 (P240L)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 1188766	NM_022124.6(CDH23):c.753+313G>C	CDH23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 680499	NM_022124.6(CDH23):c.754-254T>C	CDH23	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239248	NM_022124.6(CDH23):c.754-217C>T	CDH23	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230164	NM_022124.6(CDH23):c.754-198C>T	CDH23	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204422	NM_022124.6(CDH23):c.754-46A>T	CDH23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216909	NM_022124.6(CDH23):c.754-35G>T	CDH23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 420355	NM_022124.6(CDH23):c.772A>G (p.Ile258Val)	CDH23 (I258V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1520061	NM_022124.6(CDH23):c.778G>A (p.Ala260Thr)	CDH23 (A260T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 879005	NM_022124.6(CDH23):c.806G>A (p.Arg269Gln)	CDH23 (R269Q)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +3 more	GUncertain significance
Select item 506537	NM_022124.6(CDH23):c.832+8A>G	CDH23	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 12 +3 more	GLikely benign
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 1197365	NM_022124.6(CDH23):c.832+145T>G	CDH23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1275479	NM_022124.6(CDH23):c.832+248del	CDH23	Deletion (intron variant)	not provided	GBenign
Select item 1189319	NM_022124.6(CDH23):c.832+292G>A	CDH23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 970989	NM_022124.6(CDH23):c.838A>G (p.Thr280Ala)	CDH23 (T280A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1065907	NM_022124.6(CDH23):c.871G>A (p.Gly291Arg)	CDH23 (G291R)	Single nucleotide variant (missense variant)	Pituitary adenoma 5, multiple types +2 more	GLikely pathogenic
Select item 46060	NM_022124.6(CDH23):c.894G>A (p.Leu298=)	CDH23	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 4929	NM_022124.6(CDH23):c.902G>A (p.Arg301Gln)	CDH23 (R301Q)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GUncertain significance FDA Recognized database
Select item 1197301	NM_022124.6(CDH23):c.945+44C>T	CDH23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203303	NM_022124.6(CDH23):c.945+145C>T	CDH23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1174195	NM_022124.6(CDH23):c.946-24G>A	CDH23	Single nucleotide variant (intron variant)	not provided	GLikely benign

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