CDH23-AS1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
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 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	HERC4, HK1 +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	LOC130004125, LOC130004126 +580 more	Copy number gain	See cases	GPathogenic
Select item 154673	GRCh38/hg38 10q22.1(chr10:71169571-71556196)x1	CDH23, CDH23-AS1 +13 more	Copy number loss	See cases	GUncertain significance
Select item 155353	GRCh38/hg38 10q22.1(chr10:71211967-71614160)x1	CDH23, CDH23-AS1 +12 more	Copy number loss	See cases	GUncertain significance
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 2420047	NM_022124.6(CDH23):c.146-17T>A	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 2903836	NM_022124.6(CDH23):c.146-14C>G	CDH23, CDH23-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1587077	NM_022124.6(CDH23):c.146-10G>T	CDH23, CDH23-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1081650	NM_022124.6(CDH23):c.146-9C>T	CDH23, CDH23-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1111225	NM_022124.6(CDH23):c.146-7A>G	CDH23, CDH23-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1098205	NM_022124.6(CDH23):c.146-6C>T	CDH23, CDH23-AS1	Single nucleotide variant (intron 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 197332	NM_022124.6(CDH23):c.146-2A>G	CDH23, CDH23-AS1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1185603	NM_022124.6(CDH23):c.146-1G>C	CDH23, CDH23-AS1	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 12	GPathogenic
Select item 1380859	NM_022124.6(CDH23):c.152_153del (p.Ser51fs)	CDH23, CDH23-AS1 (S51fs)	Deletion (frameshift variant)	not provided	GPathogenic
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 990899	NM_022124.6(CDH23):c.158C>A (p.Thr53Asn)	CDH23, CDH23-AS1 (T53N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 2096132	NM_022124.6(CDH23):c.174A>G (p.Gln58=)	CDH23, CDH23-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1456735	NM_022124.6(CDH23):c.185del (p.Asn62fs)	CDH23-AS1, CDH23 (N62fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2136877	NM_022124.6(CDH23):c.193dup (p.Leu65fs)	CDH23, CDH23-AS1 (L65fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 4925	NM_022124.6(CDH23):c.193del (p.Leu65fs)	CDH23, CDH23-AS1 (L65fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 990901	NM_022124.6(CDH23):c.190C>T (p.Pro64Ser)	CDH23, CDH23-AS1 (P64S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1568262	NM_022124.6(CDH23):c.193C>T (p.Leu65=)	CDH23, CDH23-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3007906	NM_022124.6(CDH23):c.201del (p.Phe67fs)	CDH23, CDH23-AS1 (F67fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2122602	NM_022124.6(CDH23):c.200T>G (p.Phe67Cys)	CDH23, CDH23-AS1 (F67C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 797585	NM_022124.6(CDH23):c.201T>C (p.Phe67=)	CDH23, CDH23-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 1932950	NM_022124.6(CDH23):c.205G>T (p.Val69Leu)	CDH23, CDH23-AS1 (V69L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1541360	NM_022124.6(CDH23):c.207G>C (p.Val69=)	CDH23, CDH23-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 957103	NM_022124.6(CDH23):c.208T>G (p.Ser70Ala)	CDH23, CDH23-AS1 (S70A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 2006789	NM_022124.6(CDH23):c.213G>T (p.Gly71=)	CDH23, CDH23-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1074713	NM_022124.6(CDH23):c.214G>T (p.Glu72Ter)	CDH23, CDH23-AS1 (E72*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1095828	NM_022124.6(CDH23):c.222C>T (p.Ala74=)	CDH23, CDH23-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 1076701	NM_022124.6(CDH23):c.227_233dup (p.Phe78fs)	CDH23, CDH23-AS1 (F78fs)	Duplication (frameshift variant)	not provided	GPathogenic
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 2165990	NM_022124.6(CDH23):c.228C>T (p.Arg76=)	CDH23, CDH23-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1021781	NM_022124.6(CDH23):c.234T>G (p.Phe78Leu)	CDH23, CDH23-AS1 (F78L)	Single nucleotide variant (missense 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 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 1923904	NM_022124.6(CDH23):c.243G>A (p.Glu81=)	CDH23, CDH23-AS1	Single nucleotide variant (synonymous 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 1970029	NM_022124.6(CDH23):c.255C>A (p.Gly85=)	CDH23, CDH23-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 990902	NM_022124.6(CDH23):c.255C>T (p.Gly85=)	CDH23, CDH23-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 841267	NM_022124.6(CDH23):c.256G>A (p.Val86Met)	CDH23, CDH23-AS1 (V86M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2085119	NM_022124.6(CDH23):c.258G>A (p.Val86=)	CDH23, CDH23-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 497239	NM_022124.6(CDH23):c.259G>T (p.Val87Leu)	CDH23, CDH23-AS1 (V87L)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +3 more	GUncertain significance
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 1542735	NM_022124.6(CDH23):c.267C>T (p.Leu89=)	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 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 specified +4 more	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 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 990903	NM_022124.6(CDH23):c.276A>G (p.Pro92=)	CDH23, CDH23-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 379600	NM_022124.6(CDH23):c.288+1G>C	CDH23-AS1, CDH23	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
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 1983810	NM_022124.6(CDH23):c.288+4T>A	CDH23, CDH23-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
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 1997371	NM_022124.6(CDH23):c.288+7C>G	CDH23, CDH23-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1146862	NM_022124.6(CDH23):c.288+7C>T	CDH23, CDH23-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 794399	NM_022124.6(CDH23):c.288+9T>G	CDH23, CDH23-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008751	NM_022124.6(CDH23):c.288+17C>A	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 2807005	NM_022124.6(CDH23):c.288+19C>T	CDH23, CDH23-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2873167	NM_022124.6(CDH23):c.289-13_289-7dup	CDH23, CDH23-AS1	Duplication (intron variant)	not provided	GLikely benign
Select item 1538910	NM_022124.6(CDH23):c.289-8del	CDH23, CDH23-AS1	Deletion (intron variant)	not provided	GBenign
Select item 1113351	NM_022124.6(CDH23):c.289-10T>G	CDH23, CDH23-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1105667	NM_022124.6(CDH23):c.289-9T>C	CDH23, CDH23-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2120865	NM_022124.6(CDH23):c.294G>A (p.Lys98=)	CDH23, CDH23-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1452739	NM_022124.6(CDH23):c.303_306dup (p.Val103fs)	CDH23, CDH23-AS1 (V103fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1159981	NM_022124.6(CDH23):c.303C>T (p.Phe101=)	CDH23, CDH23-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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