ClinVar for Gene (Select 102723377) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3141201	NM_022124.6(CDH23):c.158C>T (p.Thr53Ile)	CDH23, CDH23-AS1 (T53I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3019712	NM_022124.6(CDH23):c.369G>T (p.Gly123=)	CDH23, CDH23-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008751	NM_022124.6(CDH23):c.288+17C>A	CDH23-AS1, CDH23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007906	NM_022124.6(CDH23):c.201del (p.Phe67fs)	CDH23, CDH23-AS1 (F67fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3000144	NM_022124.6(CDH23):c.336+15G>A	CDH23, CDH23-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995645	NM_022124.6(CDH23):c.306C>G (p.Thr102=)	CDH23, CDH23-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985147	NM_022124.6(CDH23):c.336+19C>G	CDH23, CDH23-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971830	NM_022124.6(CDH23):c.337-8C>T	CDH23, CDH23-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971555	NM_022124.6(CDH23):c.146-16C>T	CDH23, CDH23-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969991	NM_022124.6(CDH23):c.429+11C>T	CDH23, CDH23-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962100	NM_022124.6(CDH23):c.429+15G>A	CDH23, CDH23-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2908446	NM_022124.6(CDH23):c.411C>T (p.Tyr137=)	CDH23, CDH23-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2903836	NM_022124.6(CDH23):c.146-14C>G	CDH23, CDH23-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2874191	NM_022124.6(CDH23):c.288+18C>A	CDH23, CDH23-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2873167	NM_022124.6(CDH23):c.289-13_289-7dup	CDH23, CDH23-AS1	Duplication (intron variant)	not provided	GLikely benign
Select item 2866866	NM_022124.6(CDH23):c.261G>A (p.Val87=)	CDH23, CDH23-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2851696	NM_022124.6(CDH23):c.192C>T (p.Pro64=)	CDH23, CDH23-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2839387	NM_022124.6(CDH23):c.345A>C (p.Thr115=)	CDH23, CDH23-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2834471	NM_022124.6(CDH23):c.312G>A (p.Glu104=)	CDH23, CDH23-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2833226	NM_022124.6(CDH23):c.333G>A (p.Gln111=)	CDH23, CDH23-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2830098	NM_022124.6(CDH23):c.332del (p.Gln111fs)	CDH23, CDH23-AS1 (Q111fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2817344	NM_022124.6(CDH23):c.429+22del	CDH23, CDH23-AS1	Deletion (intron variant)	not provided	GLikely benign
Select item 2808587	NM_022124.6(CDH23):c.336+16G>A	CDH23, CDH23-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2807005	NM_022124.6(CDH23):c.288+19C>T	CDH23, CDH23-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2802038	NM_022124.6(CDH23):c.249C>T (p.Asp83=)	CDH23, CDH23-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2798522	NM_022124.6(CDH23):c.337-19C>G	CDH23, CDH23-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2791744	NM_022124.6(CDH23):c.309G>A (p.Val103=)	CDH23, CDH23-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2752311	NM_022124.6(CDH23):c.423C>T (p.Ile141=)	CDH23, CDH23-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2714520	NM_022124.6(CDH23):c.146-4C>G	CDH23, CDH23-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2688753	NM_022124.6(CDH23):c.407C>A (p.Pro136His)	CDH23, CDH23-AS1 (P136H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2682434	NM_022124.6(CDH23):c.334G>C (p.Gly112Arg)	CDH23, CDH23-AS1 (G112R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2680474	NM_022124.6(CDH23):c.345_346del (p.Arg116fs)	CDH23, CDH23-AS1 (R116fs)	Microsatellite (frameshift variant)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 2584918	NM_022124.6(CDH23):c.280G>C (p.Asp94His)	CDH23, CDH23-AS1 (D94H)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12	GUncertain significance
Select item 2578615	NM_022124.6(CDH23):c.289-1G>A	CDH23, CDH23-AS1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2420047	NM_022124.6(CDH23):c.146-17T>A	CDH23, CDH23-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2329766	NM_022124.6(CDH23):c.211G>T (p.Gly71Trp)	CDH23, CDH23-AS1 (G71W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2188400	NM_022124.6(CDH23):c.226C>T (p.Arg76Cys)	CDH23, CDH23-AS1 (R76C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2165990	NM_022124.6(CDH23):c.228C>T (p.Arg76=)	CDH23, CDH23-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2153630	NM_022124.6(CDH23):c.307G>A (p.Val103Met)	CDH23, CDH23-AS1 (V103M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2151374	NM_022124.6(CDH23):c.347G>A (p.Arg116Gln)	CDH23-AS1, CDH23 (R116Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2149303	NM_022124.6(CDH23):c.288+9T>C	CDH23, CDH23-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2136877	NM_022124.6(CDH23):c.193dup (p.Leu65fs)	CDH23-AS1, CDH23 (L65fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2122602	NM_022124.6(CDH23):c.200T>G (p.Phe67Cys)	CDH23-AS1, CDH23 (F67C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2120865	NM_022124.6(CDH23):c.294G>A (p.Lys98=)	CDH23, CDH23-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2096132	NM_022124.6(CDH23):c.174A>G (p.Gln58=)	CDH23, CDH23-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2095066	NM_022124.6(CDH23):c.258G>C (p.Val86=)	CDH23, CDH23-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2092018	NM_022124.6(CDH23):c.288+2T>C	CDH23, CDH23-AS1	Single nucleotide variant (splice donor variant)	Pituitary adenoma 5, multiple types +1 more	GPathogenic/Likely pathogenic
Select item 2090980	NM_022124.6(CDH23):c.370del (p.Asp124fs)	CDH23-AS1, CDH23 (D124fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2089145	NM_022124.6(CDH23):c.401A>G (p.Asn134Ser)	CDH23, CDH23-AS1 (N134S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2085119	NM_022124.6(CDH23):c.258G>A (p.Val86=)	CDH23, CDH23-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2077369	NM_022124.6(CDH23):c.337-16G>T	CDH23, CDH23-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2069687	NM_022124.6(CDH23):c.288+6A>T	CDH23, CDH23-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2044337	NM_022124.6(CDH23):c.237A>G (p.Ala79=)	CDH23, CDH23-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2026391	NM_022124.6(CDH23):c.420C>T (p.Arg140=)	CDH23, CDH23-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2021804	NM_022124.6(CDH23):c.336+12C>T	CDH23, CDH23-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2006789	NM_022124.6(CDH23):c.213G>T (p.Gly71=)	CDH23, CDH23-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2003664	NM_022124.6(CDH23):c.268C>A (p.Arg90=)	CDH23, CDH23-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1997371	NM_022124.6(CDH23):c.288+7C>G	CDH23, CDH23-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1983810	NM_022124.6(CDH23):c.288+4T>A	CDH23-AS1, CDH23	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1972691	NM_022124.6(CDH23):c.336+17G>A	CDH23, CDH23-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1970029	NM_022124.6(CDH23):c.255C>A (p.Gly85=)	CDH23, CDH23-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1964330	NM_022124.6(CDH23):c.351G>A (p.Lys117=)	CDH23, CDH23-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1955527	NM_022124.6(CDH23):c.408C>T (p.Pro136=)	CDH23, CDH23-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1948050	NM_022124.6(CDH23):c.337G>A (p.Val113Met)	CDH23, CDH23-AS1 (V113M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1944004	NM_022124.6(CDH23):c.429+12_429+13inv	CDH23, CDH23-AS1	Inversion (intron variant)	not provided	GUncertain significance
Select item 1932950	NM_022124.6(CDH23):c.205G>T (p.Val69Leu)	CDH23-AS1, CDH23 (V69L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1923904	NM_022124.6(CDH23):c.243G>A (p.Glu81=)	CDH23, CDH23-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1911164	NM_022124.6(CDH23):c.346C>G (p.Arg116Gly)	CDH23-AS1, CDH23 (R116G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1896876	NM_022124.6(CDH23):c.348G>A (p.Arg116=)	CDH23-AS1, CDH23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1810575	NM_022124.6(CDH23):c.336+1del	CDH23, CDH23-AS1	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 1687472	NM_022124.6(CDH23):c.287A>T (p.Glu96Val)	CDH23, CDH23-AS1 (E96V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12	GUncertain significance
Select item 1674314	NM_022124.6(CDH23):c.337-17C>T	CDH23, CDH23-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1650097	NM_022124.6(CDH23):c.429+10A>G	CDH23, CDH23-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1605848	NM_022124.6(CDH23):c.306C>A (p.Thr102=)	CDH23, CDH23-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1605129	NM_022124.6(CDH23):c.159C>G (p.Thr53=)	CDH23, CDH23-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1598731	NM_022124.6(CDH23):c.429+16dup	CDH23, CDH23-AS1	Duplication (intron variant)	not provided	GBenign
Select item 1596125	NM_022124.6(CDH23):c.337-16G>A	CDH23, CDH23-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1587077	NM_022124.6(CDH23):c.146-10G>T	CDH23-AS1, CDH23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1568262	NM_022124.6(CDH23):c.193C>T (p.Leu65=)	CDH23-AS1, CDH23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1565437	NM_022124.6(CDH23):c.337-7T>C	CDH23, CDH23-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1542735	NM_022124.6(CDH23):c.267C>T (p.Leu89=)	CDH23, CDH23-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1541360	NM_022124.6(CDH23):c.207G>C (p.Val69=)	CDH23, CDH23-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1538910	NM_022124.6(CDH23):c.289-8del	CDH23-AS1, CDH23	Deletion (intron variant)	not provided	GBenign
Select item 1507280	NM_022124.6(CDH23):c.418C>T (p.Arg140Cys)	CDH23, CDH23-AS1 (R140C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1504519	NM_022124.6(CDH23):c.310G>C (p.Glu104Gln)	CDH23, CDH23-AS1 (E104Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1493311	NM_022124.6(CDH23):c.369G>A (p.Gly123=)	CDH23, CDH23-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1492169	NM_022124.6(CDH23):c.211G>A (p.Gly71Arg)	CDH23, CDH23-AS1 (G71R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1482258	NM_022124.6(CDH23):c.355A>G (p.Asn119Asp)	CDH23, CDH23-AS1 (N119D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1464280	NM_022124.6(CDH23):c.317C>A (p.Ser106Tyr)	CDH23, CDH23-AS1 (S106Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1462341	NM_022124.6(CDH23):c.270G>A (p.Arg90=)	CDH23, CDH23-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1456735	NM_022124.6(CDH23):c.185del (p.Asn62fs)	CDH23, CDH23-AS1 (N62fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1452739	NM_022124.6(CDH23):c.303_306dup (p.Val103fs)	CDH23, CDH23-AS1 (V103fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1414455	NM_022124.6(CDH23):c.366_367delinsCC (p.Gly123Arg)	CDH23, CDH23-AS1 (G123R)	Indel (missense variant)	not provided	GUncertain significance
Select item 1400139	NM_022124.6(CDH23):c.311A>G (p.Glu104Gly)	CDH23, CDH23-AS1 (E104G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1393764	NM_022124.6(CDH23):c.223T>C (p.Ser75Pro)	CDH23, CDH23-AS1 (S75P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1380876	NM_022124.6(CDH23):c.366_367inv (p.Gly123Arg)	CDH23, CDH23-AS1 (G123R)	Inversion (missense variant)	not provided	GUncertain significance
Select item 1380859	NM_022124.6(CDH23):c.152_153del (p.Ser51fs)	CDH23, CDH23-AS1 (S51fs)	Deletion (frameshift variant)	not provided	GPathogenic
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 1310086	NM_022124.6(CDH23):c.346C>T (p.Arg116Trp)	CDH23, CDH23-AS1 (R116W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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