ClinVar for Gene (Select 64072) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370215	NM_022124.6(CDH23):c.9351G>A (p.Met3117Ile)	CDH23 (M3117I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3369918	NM_022124.6(CDH23):c.9634-30_9634-8del	CDH23	Deletion (intron variant)	not provided	GUncertain significance
Select item 3367435	NM_022124.6(CDH23):c.7291T>G (p.Ser2431Ala)	CDH23 (S191A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365582	NM_022124.6(CDH23):c.1417G>C (p.Val473Leu)	CDH23 (V473L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365568	NM_022124.6(CDH23):c.8086C>G (p.Leu2696Val)	CDH23 (L2696V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364118	NM_022124.6(CDH23):c.5021T>C (p.Ile1674Thr)	CDH23 (I1674T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3358423	NM_022124.6(CDH23):c.9381-190A>T	CDH23	Single nucleotide variant (5 prime UTR variant +1 more)	CDH23-related disorder	GLikely benign
Select item 3356981	NM_022124.6(CDH23):c.*78C>T	CDH23	Single nucleotide variant (3 prime UTR variant)	CDH23-related disorder	GLikely benign
Select item 3352542	NM_022124.6(CDH23):c.9381-186G>C	CDH23 (M1I)	Single nucleotide variant (missense variant +2 more)	CDH23-related disorder	GLikely benign
Select item 3352381	NM_022124.6(CDH23):c.3268G>A (p.Val1090Ile)	C10orf105, CDH23 (V1090I)	Single nucleotide variant (3 prime UTR variant +1 more)	CDH23-related disorder	GUncertain significance
Select item 3343710	NM_022124.6(CDH23):c.3369+6T>A	C10orf105, CDH23	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3342717	NM_022124.6(CDH23):c.2113G>C (p.Gly705Arg)	CDH23 (G705R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342064	NM_022124.6(CDH23):c.9634-2A>C	CDH23	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GUncertain significance
Select item 3340296	NM_022124.6(CDH23):c.8530C>A (p.Pro2844Thr)	CDH23 (P2844T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338852	NM_022124.6(CDH23):c.7418T>C (p.Leu2473Pro)	CDH23 (L233P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338163	NM_022124.6(CDH23):c.4209+355G>A	C10orf105, CDH23	Single nucleotide variant (intron variant)	Hearing impairment	GUncertain significance
Select item 3338162	NM_022124.6(CDH23):c.3430+352C>T	C10orf105, CDH23	Single nucleotide variant (intron variant)	Hearing impairment	GUncertain significance
Select item 3338161	NM_022124.6(CDH23):c.430-27152G>C	CDH23	Single nucleotide variant (intron variant)	Hearing impairment	GUncertain significance
Select item 3338160	NM_022124.6(CDH23):c.430-24418A>T	CDH23	Single nucleotide variant (intron variant)	Hearing impairment	GUncertain significance
Select item 3337896	NM_022124.6(CDH23):c.4846-4306G>T	CDH23, LOC130004037 +1 more (F22L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3337895	NM_022124.6(CDH23):c.4571del (p.Pro1524fs)	CDH23 (P1524fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3337894	NM_022124.6(CDH23):c.3106+12dup	CDH23 (A1040fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3337893	NM_022124.6(CDH23):c.494dup (p.Ser166fs)	CDH23 (S166fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 3337011	NM_022124.6(CDH23):c.4781G>T (p.Arg1594Leu)	CDH23 (R1594L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3336526	NM_022124.6(CDH23):c.868A>C (p.Ser290Arg)	CDH23 (S290R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3265279	NM_022124.6(CDH23):c.9982C>T (p.Arg3328Cys)	CDH23 (R3328C +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3265278	NM_022124.6(CDH23):c.598G>T (p.Ala200Ser)	CDH23 (A200S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3265277	NM_022124.6(CDH23):c.4703C>G (p.Thr1568Ser)	CDH23 (T1568S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3265276	NM_022124.6(CDH23):c.1712G>A (p.Arg571Gln)	CDH23 (R571Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3265275	NM_022124.6(CDH23):c.890G>T (p.Gly297Val)	CDH23 (G297V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3265274	NM_022124.6(CDH23):c.8488C>A (p.Gln2830Lys)	CDH23 (Q2830K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3265272	NM_022124.6(CDH23):c.7906T>A (p.Tyr2636Asn)	CDH23, LOC111982869 (Y396N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3265271	NM_022124.6(CDH23):c.6579T>G (p.Ile2193Met)	CDH23 (I2193M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3265270	NM_022124.6(CDH23):c.9901C>G (p.Pro3301Ala)	CDH23 (P1026A +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3265269	NM_022124.6(CDH23):c.5372A>T (p.Glu1791Val)	CDH23 (E1791V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3265268	NM_022124.6(CDH23):c.2440G>A (p.Val814Met)	CDH23 (V814M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3265267	NM_022124.6(CDH23):c.8199G>C (p.Gln2733His)	CDH23 (Q2733H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3265266	NM_022124.6(CDH23):c.2933C>T (p.Thr978Ile)	CDH23 (T978I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3265265	NM_022124.6(CDH23):c.6392C>G (p.Thr2131Ser)	CDH23 (T2131S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3265263	NM_022124.6(CDH23):c.4480A>G (p.Ile1494Val)	CDH23 (I1494V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3265262	NM_022124.6(CDH23):c.1933G>A (p.Asp645Asn)	CDH23 (D645N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3265261	NM_022124.6(CDH23):c.4133A>G (p.Asp1378Gly)	C10orf105, CDH23 (D1378G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3265260	NM_022124.6(CDH23):c.5586G>C (p.Glu1862Asp)	CDH23 (E1862D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3265257	NM_022124.6(CDH23):c.4141A>G (p.Lys1381Glu)	C10orf105, CDH23 (K1381E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3265256	NM_022124.6(CDH23):c.2098C>G (p.Arg700Gly)	CDH23 (R700G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3255572	NM_022124.6(CDH23):c.4396dup (p.Ala1466fs)	CDH23 (A1466fs)	Duplication (frameshift variant)	Usher syndrome type 1D	GLikely pathogenic
Select item 3254724	NM_022124.6(CDH23):c.7343T>C (p.Phe2448Ser)	CDH23 (F208S +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1D	GUncertain significance
Select item 3250521	NM_022153.2(VSIR):c.719T>C (p.Ile240Thr)	CDH23, VSIR (I240T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3245010	NC_000010.10:g.(?_73571434)_(73572534_?)del	CDH23	Deletion	not provided	GLikely pathogenic
Select item 3245009	NC_000010.10:g.(?_73494902)_(73501606_?)del	C10orf105, CDH23	Deletion	not provided	GPathogenic
Select item 3245008	NC_000010.10:g.(?_73326479)_(73337769_?)dup	CDH23	Duplication	not provided	GLikely pathogenic
Select item 3245007	NC_000010.10:g.(?_73550025)_(73565774_?)dup	CDH23	Duplication	not provided	GLikely pathogenic
Select item 3245006	NC_000010.10:g.(?_73548677)_(73551112_?)dup	CDH23	Duplication	not provided	GLikely pathogenic
Select item 3245005	NC_000010.10:g.(?_73544024)_(73545515_?)del	CDH23	Deletion	not provided	GPathogenic
Select item 3245004	NC_000010.10:g.(?_73483792)_(73490371_?)del	C10orf105, CDH23	Deletion	not provided	GPathogenic
Select item 3245002	NC_000010.10:g.(?_73199589)_(73206172_?)del	CDH23	Deletion	not provided	GPathogenic
Select item 3245001	NC_000010.10:g.(?_73405568)_(73406394_?)del	CDH23	Deletion	not provided	GPathogenic
Select item 3245000	NC_000010.10:g.(?_73337651)_(73337769_?)del	CDH23	Deletion	not provided	GPathogenic
Select item 3244999	NC_000010.10:g.(?_73437193)_(73437470_?)del	CDH23	Deletion	not provided	GPathogenic
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 3241058	NM_022124.6(CDH23):c.6050-2A>G	CDH23	Single nucleotide variant (splice acceptor variant)	Pituitary adenoma 5, multiple types	GLikely pathogenic
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 3241056	NM_022124.6(CDH23):c.3535G>T (p.Glu1179Ter)	CDH23, C10orf105 (E1179*)	Single nucleotide variant (nonsense +1 more)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 3241055	NM_022124.6(CDH23):c.9077+2T>C	CDH23	Single nucleotide variant (splice donor variant)	Pituitary adenoma 5, multiple types	GLikely 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 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 3241051	NM_022124.6(CDH23):c.7224+1G>T	CDH23	Single nucleotide variant (splice donor variant)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 3241050	NM_022124.6(CDH23):c.6517G>T (p.Glu2173Ter)	CDH23 (E2173*)	Single nucleotide variant (nonsense)	Pituitary adenoma 5, multiple types	GPathogenic
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 3241048	NM_022124.6(CDH23):c.2295del (p.Asn765fs)	CDH23 (N765fs)	Deletion (frameshift variant)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 3241047	NM_022124.6(CDH23):c.6987del (p.Leu2330fs)	CDH23 (L2330fs +1 more)	Deletion (frameshift variant)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 3241046	NM_022124.6(CDH23):c.8877del (p.Ile2959fs)	CDH23 (I2959fs +1 more)	Deletion (frameshift variant)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 3241045	NM_022124.6(CDH23):c.9078-2A>C	CDH23	Single nucleotide variant (splice acceptor variant)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 3241044	NM_022124.6(CDH23):c.5907G>A (p.Met1969Ile)	CDH23 (M1969I)	Single nucleotide variant (missense variant)	Pituitary adenoma 5, multiple types	GUncertain significance
Select item 3241043	NM_022124.6(CDH23):c.4360del	CDH23	Deletion (splice acceptor variant)	Pituitary adenoma 5, multiple types	GLikely 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 3241041	NM_022124.6(CDH23):c.5667del (p.Asn1889fs)	CDH23 (N1889fs)	Deletion (frameshift variant)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 3241040	NM_022124.6(CDH23):c.9127del (p.Arg3043fs)	CDH23 (R3043fs +1 more)	Deletion (frameshift variant)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 3241039	NM_022124.6(CDH23):c.7661-1G>C	CDH23	Single nucleotide variant (splice acceptor variant)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 3241038	NM_022124.6(CDH23):c.8160_8161del (p.Leu2721fs)	CDH23 (L2721fs +1 more)	Deletion (frameshift variant)	Pituitary adenoma 5, multiple types	GLikely 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 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 3241035	NM_022124.6(CDH23):c.4488+2T>A	CDH23	Single nucleotide variant (splice donor variant)	Pituitary adenoma 5, multiple types	GLikely 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 3239507	NM_022124.6(CDH23):c.7504G>A (p.Val2502Ile)	CDH23 (V2502I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3239281	NM_022124.6(CDH23):c.9745_9746del (p.Gln3249fs)	CDH23 (Q1009fs +4 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3189140	NM_022153.2(VSIR):c.86C>T (p.Pro29Leu)	CDH23, VSIR (P29L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3189139	NM_022153.2(VSIR):c.637C>T (p.Leu213Phe)	CDH23, VSIR (L213F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189138	NM_022153.2(VSIR):c.494A>C (p.Glu165Ala)	CDH23, VSIR (E165A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189137	NM_022153.2(VSIR):c.336C>A (p.Asp112Glu)	CDH23, VSIR (D112E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3189136	NM_022153.2(VSIR):c.232G>A (p.Gly78Ser)	CDH23, VSIR (G78S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141224	NM_022124.6(CDH23):c.9743T>C (p.Ile3248Thr)	CDH23 (I973T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3141223	NM_022124.6(CDH23):c.9694C>G (p.Arg3232Gly)	CDH23 (R3232G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3141222	NM_022124.6(CDH23):c.874G>C (p.Val292Leu)	CDH23 (V292L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3141220	NM_022124.6(CDH23):c.8407G>T (p.Val2803Phe)	CDH23 (V563F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3141219	NM_022124.6(CDH23):c.8365C>T (p.Arg2789Trp)	CDH23 (R2789W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3141218	NM_022124.6(CDH23):c.7655G>C (p.Gly2552Ala)	CDH23 (G312A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3141217	NM_022124.6(CDH23):c.7046C>A (p.Ser2349Tyr)	CDH23 (S2349Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3141216	NM_022124.6(CDH23):c.6542T>A (p.Val2181Glu)	CDH23 (V2181E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3141215	NM_022124.6(CDH23):c.6358C>G (p.Leu2120Val)	CDH23 (L2120V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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