"Baylor Genetics"[submitter] AND "CDH23"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3241049	NM_022124.6(CDH23):c.39G>A (p.Trp13Ter)	CDH23 (W13*)	Single nucleotide variant (nonsense)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 2680533	NM_022124.6(CDH23):c.66G>A (p.Trp22Ter)	CDH23 (W22*)	Single nucleotide variant (nonsense)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 2680509	NM_022124.6(CDH23):c.67+1G>A	CDH23	Single nucleotide variant (splice donor variant)	Pituitary adenoma 5, multiple types	GLikely pathogenic
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 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 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 934718	NM_022124.6(CDH23):c.336+1G>A	CDH23, CDH23-AS1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
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 1029847	NM_022124.6(CDH23):c.371A>G (p.Asp124Gly)	CDH23, CDH23-AS1 (D124G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 228491	NM_022124.6(CDH23):c.380A>G (p.Asp127Gly)	CDH23, CDH23-AS1 (D127G)	Single nucleotide variant (missense variant)	Usher syndrome	GLikely pathogenic FDA Recognized database
Select item 2680485	NM_022124.6(CDH23):c.489del (p.Gly165fs)	CDH23 (G165fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3241054	NM_022124.6(CDH23):c.522del (p.Ser175fs)	CDH23 (S175fs)	Deletion (frameshift variant)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 966012	NM_022124.6(CDH23):c.562dup (p.Thr188fs)	CDH23 (T188fs)	Duplication (frameshift variant)	Pituitary adenoma 5, multiple types +1 more	GPathogenic/Likely pathogenic
Select item 2094292	NM_022124.6(CDH23):c.624+1G>A	CDH23	Single nucleotide variant (splice donor variant)	Pituitary adenoma 5, multiple types +1 more	GLikely pathogenic
Select item 2680450	NM_022124.6(CDH23):c.702dup (p.Ile235fs)	CDH23 (I235fs)	Duplication (frameshift variant)	Pituitary adenoma 5, multiple types	GLikely pathogenic
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 3241057	NM_022124.6(CDH23):c.739G>T (p.Glu247Ter)	CDH23 (E247*)	Single nucleotide variant (nonsense)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 966522	NM_022124.6(CDH23):c.753+1G>A	CDH23	Single nucleotide variant (splice donor variant)	Pituitary adenoma 5, multiple types +1 more	GLikely pathogenic
Select item 1486628	NM_022124.6(CDH23):c.754-2A>G	CDH23	Single nucleotide variant (splice acceptor variant)	Pituitary adenoma 5, multiple types +1 more	GLikely pathogenic
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 1687042	NM_022124.6(CDH23):c.805C>T (p.Arg269Trp)	CDH23 (R269W)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12 +2 more	GPathogenic/Likely pathogenic
Select item 1453264	NM_022124.6(CDH23):c.856del (p.Leu286fs)	CDH23 (L286fs)	Deletion (frameshift variant)	Pituitary adenoma 5, multiple types +1 more	GPathogenic/Likely pathogenic
Select item 2680480	NM_022124.6(CDH23):c.860_863dup (p.Tyr288Ter)	CDH23 (Y288*)	Duplication (nonsense)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 1072295	NM_022124.6(CDH23):c.871G>T (p.Gly291Ter)	CDH23 (G291*)	Single nucleotide variant (nonsense)	Pituitary adenoma 5, multiple types +1 more	GPathogenic/Likely pathogenic
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 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 955581	NM_022124.6(CDH23):c.913del (p.Leu305fs)	CDH23 (L305fs)	Deletion (frameshift variant)	Pituitary adenoma 5, multiple types +2 more	GPathogenic/Likely pathogenic
Select item 162876	NM_022124.6(CDH23):c.945+1G>T	CDH23	Single nucleotide variant (splice donor variant)	Rare genetic deafness +2 more	GPathogenic
Select item 618006	NM_022124.6(CDH23):c.982G>A (p.Ala328Thr)	CDH23 (A328T)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +4 more	GConflicting classifications of pathogenicity
Select item 1509346	NM_022124.6(CDH23):c.995C>A (p.Thr332Lys)	CDH23 (T332K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 618009	NM_022124.6(CDH23):c.1087del (p.Val363fs)	CDH23 (V363fs)	Deletion (frameshift variant)	Pituitary adenoma 5, multiple types +2 more	GPathogenic/Likely pathogenic
Select item 3241042	NM_022124.6(CDH23):c.1112_1115del (p.Ile371fs)	CDH23 (I371fs)	Deletion (frameshift variant)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 2680461	NM_022124.6(CDH23):c.1120_1123del (p.Val374fs)	CDH23 (V374fs)	Deletion (frameshift variant)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 2501245	NM_022124.6(CDH23):c.1152C>A (p.Ser384Arg)	CDH23 (S384R)	Single nucleotide variant (missense variant)	Pituitary adenoma 5, multiple types +2 more	GPathogenic/Likely pathogenic
Select item 666803	NM_022124.6(CDH23):c.1205C>T (p.Pro402Leu)	CDH23 (P402L)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 729528	NM_022124.6(CDH23):c.1282G>A (p.Asp428Asn)	CDH23 (D428N)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +2 more	GConflicting classifications of pathogenicity
Select item 847374	NM_022124.6(CDH23):c.1386_1389del (p.Gln462fs)	CDH23 (Q462fs)	Microsatellite (frameshift variant)	Pituitary adenoma 5, multiple types +1 more	GPathogenic/Likely pathogenic
Select item 423771	NM_022124.6(CDH23):c.1428dup (p.Thr477fs)	CDH23 (T477fs)	Duplication (frameshift variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 2680465	NM_022124.6(CDH23):c.1447delinsTTT (p.Leu483fs)	CDH23 (L483fs)	Indel (frameshift variant)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 3241060	NM_022124.6(CDH23):c.1450-2A>G	CDH23	Single nucleotide variant (splice acceptor variant)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 228484	NM_022124.6(CDH23):c.1515-12G>A	CDH23	Single nucleotide variant (intron variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 2162349	NM_022124.6(CDH23):c.1535C>T (p.Thr512Met)	CDH23 (T512M)	Single nucleotide variant (missense variant)	Pituitary adenoma 5, multiple types +1 more	GUncertain significance
Select item 3241036	NM_022124.6(CDH23):c.1579C>T (p.Gln527Ter)	CDH23 (Q527*)	Single nucleotide variant (nonsense)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 1460205	NM_022124.6(CDH23):c.1735C>T (p.Gln579Ter)	CDH23 (Q579*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3241034	NM_022124.6(CDH23):c.1744_1745dup (p.Leu583fs)	CDH23 (L583fs)	Duplication (frameshift variant)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 1067771	NM_022124.6(CDH23):c.1752+1G>A	CDH23	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 955558	NM_022124.6(CDH23):c.1847A>G (p.Glu616Gly)	CDH23 (E616G)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12 +1 more	GUncertain significance
Select item 2680512	NM_022124.6(CDH23):c.1859-2A>G	CDH23	Single nucleotide variant (splice acceptor variant)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 1065914	NM_022124.6(CDH23):c.1859-1G>T	CDH23	Single nucleotide variant (splice acceptor variant)	Pituitary adenoma 5, multiple types +1 more	GLikely pathogenic
Select item 2017022	NM_022124.6(CDH23):c.1891C>T (p.Gln631Ter)	CDH23 (Q631*)	Single nucleotide variant (nonsense)	Pituitary adenoma 5, multiple types +1 more	GPathogenic/Likely pathogenic
Select item 2680489	NM_022124.6(CDH23):c.1936del (p.Ala646fs)	CDH23 (A646fs)	Deletion (frameshift variant)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 2680484	NM_022124.6(CDH23):c.1987-1G>T	CDH23	Single nucleotide variant (splice acceptor variant)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 2680493	NM_022124.6(CDH23):c.2161_2166delinsGTGA (p.Ile721fs)	CDH23 (I721fs)	Indel (frameshift variant)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 654574	NM_022124.6(CDH23):c.2177-2A>G	CDH23	Single nucleotide variant (splice acceptor variant)	Pituitary adenoma 5, multiple types +1 more	GPathogenic/Likely pathogenic
Select item 693998	NM_022124.6(CDH23):c.2206C>T (p.Arg736Ter)	CDH23 (R736*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
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 2093985	NM_022124.6(CDH23):c.2289+1G>C	CDH23	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 504507	NM_022124.6(CDH23):c.2289+1G>A	CDH23	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic
Select item 3241048	NM_022124.6(CDH23):c.2295del (p.Asn765fs)	CDH23 (N765fs)	Deletion (frameshift variant)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 1068626	NM_022124.6(CDH23):c.2349C>G (p.Tyr783Ter)	CDH23 (Y783*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2680529	NM_022124.6(CDH23):c.2394del (p.Thr799fs)	CDH23 (T799fs)	Deletion (frameshift variant)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 2680488	NM_022124.6(CDH23):c.2397+1G>A	CDH23	Single nucleotide variant (splice donor variant)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 2680518	NM_022124.6(CDH23):c.2527del (p.Glu843fs)	CDH23 (E843fs)	Deletion (frameshift variant)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 2737449	NM_022124.6(CDH23):c.2587+1G>A	CDH23	Single nucleotide variant (splice donor variant)	Pituitary adenoma 5, multiple types +1 more	GLikely pathogenic
Select item 2680527	NM_022124.6(CDH23):c.2587+1G>C	CDH23	Single nucleotide variant (splice donor variant)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 3241053	NM_022124.6(CDH23):c.2733+1G>C	CDH23	Single nucleotide variant (splice donor variant)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 2136881	NM_022124.6(CDH23):c.2752G>A (p.Asp918Asn)	CDH23 (D918N)	Single nucleotide variant (missense variant)	Pituitary adenoma 5, multiple types +1 more	GPathogenic/Likely pathogenic
Select item 2680514	NM_022124.6(CDH23):c.2844dup (p.Thr949fs)	CDH23 (T949fs)	Duplication (frameshift variant)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 444219	NM_022124.6(CDH23):c.2866G>A (p.Glu956Lys)	CDH23 (E956K)	Single nucleotide variant (missense variant)	Sensorineural hearing loss disorder	GPathogenic FDA Recognized database
Select item 862819	NM_022124.6(CDH23):c.2922del (p.Lys975fs)	CDH23 (K975fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2680525	NM_022124.6(CDH23):c.2953+1G>A	CDH23	Single nucleotide variant (splice donor variant)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 2680523	NM_022124.6(CDH23):c.2954-2A>G	CDH23	Single nucleotide variant (splice acceptor variant)	Pituitary adenoma 5, multiple types +1 more	GLikely pathogenic
Select item 1036903	NM_022124.6(CDH23):c.2959G>A (p.Asp987Asn)	CDH23 (D987N)	Single nucleotide variant (missense variant)	Pituitary adenoma 5, multiple types +3 more	GConflicting classifications of pathogenicity
Select item 861900	NM_022124.6(CDH23):c.2968G>A (p.Asp990Asn)	CDH23 (D990N)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 618010	NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys)	CDH23 (E1006K)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12 +5 more	GPathogenic/Likely pathogenic
Select item 166811	NM_022124.6(CDH23):c.3022G>A (p.Val1008Met)	CDH23 (V1008M)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 521399	NM_022124.6(CDH23):c.3241C>T (p.Arg1081Ter)	C10orf105, CDH23 (R1081*)	Single nucleotide variant (3 prime UTR variant +1 more)	Pituitary adenoma 5, multiple types +3 more	GPathogenic
Select item 2680451	NM_022124.6(CDH23):c.3292_3295dup (p.Arg1099fs)	C10orf105, CDH23 (R1099fs)	Duplication (3 prime UTR variant +1 more)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 2680515	NM_022124.6(CDH23):c.3397G>T (p.Glu1133Ter)	C10orf105, CDH23 (E1133*)	Single nucleotide variant (nonsense +1 more)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 45918	NM_022124.6(CDH23):c.3397G>A (p.Glu1133Lys)	C10orf105, CDH23 (E1133K)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1D +4 more	GConflicting classifications of pathogenicity
Select item 45920	NM_022124.6(CDH23):c.3481C>T (p.Arg1161Ter)	C10orf105, CDH23 (R1161*)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive nonsyndromic hearing loss 12 +2 more	GPathogenic
Select item 2680476	NM_022124.6(CDH23):c.3486dup (p.Pro1163fs)	C10orf105, CDH23 (P1163fs)	Duplication (frameshift variant +1 more)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 3241056	NM_022124.6(CDH23):c.3535G>T (p.Glu1179Ter)	C10orf105, CDH23 (E1179*)	Single nucleotide variant (nonsense +1 more)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 1458365	NM_022124.6(CDH23):c.3579+2T>C	C10orf105, CDH23	Single nucleotide variant (splice donor variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 2680458	NM_022124.6(CDH23):c.3591C>A (p.Tyr1197Ter)	C10orf105, CDH23 (Y1197*)	Single nucleotide variant (nonsense +1 more)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 2680510	NM_022124.6(CDH23):c.3634C>T (p.Gln1212Ter)	C10orf105, CDH23 (Q1212*)	Single nucleotide variant (nonsense +1 more)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 1073637	NM_022124.6(CDH23):c.3655C>T (p.Arg1219Ter)	C10orf105, CDH23 (R1219*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 45929	NM_022124.6(CDH23):c.3706C>T (p.Arg1236Ter)	C10orf105, CDH23 (R1236*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 2680505	NM_022124.6(CDH23):c.3720_3733del (p.Asp1240fs)	C10orf105, CDH23 (D1240fs)	Deletion (frameshift variant +1 more)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 2680507	NM_022124.6(CDH23):c.3769G>T (p.Glu1257Ter)	C10orf105, CDH23 (E1257*)	Single nucleotide variant (nonsense +1 more)	Pituitary adenoma 5, multiple types +1 more	GPathogenic/Likely pathogenic
Select item 3241037	NM_022124.6(CDH23):c.3820del (p.Glu1274fs)	C10orf105, CDH23 (E1274fs)	Deletion (frameshift variant +1 more)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 2136882	NM_022124.6(CDH23):c.3862C>T (p.Gln1288Ter)	C10orf105, CDH23 (Q1288*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 4923	NM_022124.6(CDH23):c.4021G>A (p.Asp1341Asn)	C10orf105, CDH23 (D1341N)	Single nucleotide variant (missense variant +1 more)	Usher syndrome +2 more	GPathogenic/Likely pathogenic
Select item 2680498	NM_022124.6(CDH23):c.4101_4104+3del	C10orf105, CDH23 (T1368fs)	Deletion (frameshift variant +2 more)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 2680449	NM_022124.6(CDH23):c.4195G>A (p.Asp1399Asn)	C10orf105, CDH23 (D1399N)	Single nucleotide variant (missense variant +1 more)	Pituitary adenoma 5, multiple types	GUncertain significance
Select item 1067735	NM_022124.6(CDH23):c.4206+1G>A	C10orf105, CDH23	Single nucleotide variant (splice donor variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 2680500	NM_022124.6(CDH23):c.4207-2A>G	C10orf105, CDH23	Single nucleotide variant (splice acceptor variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 166813	NM_022124.6(CDH23):c.4209+1G>T	C10orf105, CDH23	Single nucleotide variant (splice donor variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 585306	NM_022124.6(CDH23):c.4210-2A>G	CDH23	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 855788	NM_022124.6(CDH23):c.4210-1G>A	CDH23	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic

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