ClinVar for MedGen (Select 1615593) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	C10orf105, CDH23 (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 3002997	NM_022124.6(CDH23):c.7872+1G>C	CDH23	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2848206	NM_022124.6(CDH23):c.9078-2A>G	CDH23	Single nucleotide variant (splice acceptor variant)	Pituitary adenoma 5, multiple types +1 more	GLikely pathogenic
Select item 2844481	NM_022124.6(CDH23):c.9375del (p.Phe3125fs)	CDH23 (F3125fs +1 more)	Deletion (frameshift variant +1 more)	Pituitary adenoma 5, multiple types +1 more	GPathogenic/Likely 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 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 2680531	NM_022124.6(CDH23):c.4471dup (p.Asp1491fs)	CDH23 (D1491fs)	Duplication (frameshift variant)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 2680530	NM_022124.6(CDH23):c.6821_6822del (p.Val2274fs)	CDH23 (V2274fs +1 more)	Microsatellite (frameshift variant)	Pituitary adenoma 5, multiple types	GLikely 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 2680528	NM_022124.6(CDH23):c.8764del (p.Ala2922fs)	CDH23 (A2922fs +1 more)	Deletion (frameshift variant)	Pituitary adenoma 5, multiple types	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 2680526	NM_022124.6(CDH23):c.7483-1G>A	CDH23	Single nucleotide variant (splice acceptor variant)	Pituitary adenoma 5, multiple types	GLikely 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 2680524	NM_022124.6(CDH23):c.9738+1G>T	CDH23	Single nucleotide variant (splice donor variant +1 more)	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 2680521	NM_022124.6(CDH23):c.6675dup (p.Asn2226fs)	CDH23 (N2226fs)	Duplication (frameshift variant)	Pituitary adenoma 5, multiple types +1 more	GPathogenic/Likely pathogenic
Select item 2680520	NM_022124.6(CDH23):c.4300del (p.Val1434fs)	CDH23 (V1434fs)	Deletion (frameshift variant)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 2680519	NM_022124.6(CDH23):c.5188-1G>A	CDH23	Single nucleotide variant (splice acceptor 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 2680517	NM_022124.6(CDH23):c.8532_8533del (p.Arg2845fs)	CDH23 (R2845fs +1 more)	Deletion (frameshift variant)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 2680516	NM_022124.6(CDH23):c.4720_4721del (p.Met1574fs)	CDH23 (M1574fs)	Deletion (frameshift variant)	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 2680514	NM_022124.6(CDH23):c.2844dup (p.Thr949fs)	CDH23 (T949fs)	Duplication (frameshift variant)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 2680513	NM_022124.6(CDH23):c.6620del (p.Leu2207fs)	CDH23 (L2207fs)	Deletion (frameshift variant)	Pituitary adenoma 5, multiple types	GPathogenic
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 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 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 2680508	NM_022124.6(CDH23):c.6311_6344delinsCCA (p.Leu2104fs)	CDH23 (L2104fs)	Indel (frameshift variant)	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 2680506	NM_022124.6(CDH23):c.7841del (p.Pro2614fs)	CDH23 (P2614fs +1 more)	Deletion (frameshift variant)	Pituitary adenoma 5, multiple types	GLikely pathogenic
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 2680504	NM_022124.6(CDH23):c.7908C>A (p.Tyr2636Ter)	CDH23, LOC111982869 (Y2636* +1 more)	Single nucleotide variant (nonsense)	Pituitary adenoma 5, multiple types	GPathogenic
Select item 2680503	NM_022124.6(CDH23):c.4440del (p.Phe1480fs)	CDH23 (F1480fs)	Deletion (frameshift variant)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 2680502	NM_022124.6(CDH23):c.7022del (p.Pro2341fs)	CDH23 (P101fs +1 more)	Deletion (frameshift variant)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 2680501	NM_022124.6(CDH23):c.4428del (p.Ile1476fs)	CDH23 (I1476fs)	Deletion (frameshift variant)	Pituitary adenoma 5, multiple types	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 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 2680497	NM_022124.6(CDH23):c.8309-1G>A	CDH23	Single nucleotide variant (splice acceptor variant)	Pituitary adenoma 5, multiple types +1 more	GLikely pathogenic
Select item 2680496	NM_022124.6(CDH23):c.6346_6347del (p.Phe2116fs)	CDH23 (F2116fs)	Deletion (frameshift variant)	Pituitary adenoma 5, multiple types	GPathogenic
Select item 2680495	NM_022124.6(CDH23):c.6944_6945del (p.Leu2315fs)	CDH23 (L2315fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2680494	NM_022124.6(CDH23):c.4863C>G (p.Tyr1621Ter)	CDH23 (Y1621*)	Single nucleotide variant (nonsense)	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 2680492	NM_022124.6(CDH23):c.8590G>T (p.Glu2864Ter)	CDH23 (E2864* +1 more)	Single nucleotide variant (nonsense)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 2680490	NM_022124.6(CDH23):c.7258del (p.Ile2420fs)	CDH23 (I180fs +1 more)	Deletion (frameshift variant)	Pituitary adenoma 5, multiple types	GLikely 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 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 2680487	NM_022124.6(CDH23):c.8722+1G>A	CDH23	Single nucleotide variant (splice donor variant)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 2680486	NM_022124.6(CDH23):c.7624_7630del (p.Asn2541_Gly2542insTer)	CDH23	Deletion (nonsense)	Pituitary adenoma 5, multiple types	GLikely pathogenic
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 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 2680482	NM_022124.6(CDH23):c.6464C>A (p.Ser2155Ter)	CDH23 (S2155*)	Single nucleotide variant (nonsense)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 2680481	NM_022124.6(CDH23):c.6676_6677insTT (p.Asn2226fs)	CDH23 (N2226fs)	Insertion (frameshift variant)	Pituitary adenoma 5, multiple types	GLikely 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 2680479	NM_022124.6(CDH23):c.8352del (p.Leu2785fs)	CDH23 (L2785fs +1 more)	Deletion (frameshift variant)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 2680478	NM_022124.6(CDH23):c.9471_9474del (p.Ser3157fs)	CDH23 (S3157fs +2 more)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2680477	NM_022124.6(CDH23):c.5502+2T>G	CDH23	Single nucleotide variant (splice donor variant)	Pituitary adenoma 5, multiple types	GLikely pathogenic
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 2680475	NM_022124.6(CDH23):c.7568del (p.Pro2523fs)	CDH23 (P2523fs +1 more)	Deletion (frameshift variant)	Pituitary adenoma 5, multiple types	GLikely pathogenic
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 2680473	NM_022124.6(CDH23):c.8443del (p.Arg2815fs)	CDH23 (R2815fs +1 more)	Deletion (frameshift variant)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 2680472	NM_022124.6(CDH23):c.9700del (p.Val3234fs)	CDH23 (V131fs +2 more)	Deletion (frameshift variant +1 more)	Pituitary adenoma 5, multiple types	GUncertain significance
Select item 2680469	NM_022124.6(CDH23):c.9264G>A (p.Trp3088Ter)	CDH23 (W3088* +1 more)	Single nucleotide variant (nonsense)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 2680468	NM_022124.6(CDH23):c.5277_5283del (p.Gly1760fs)	CDH23 (G1760fs)	Deletion (frameshift variant)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 2680467	NM_022124.6(CDH23):c.6516del (p.Glu2173fs)	CDH23 (E2173fs)	Deletion (frameshift variant)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 2680466	NM_022124.6(CDH23):c.9109C>T (p.Gln3037Ter)	CDH23 (Q3037* +1 more)	Single nucleotide variant (nonsense)	Pituitary adenoma 5, multiple types	GLikely 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 2680464	NM_022124.6(CDH23):c.4332G>A (p.Trp1444Ter)	CDH23 (W1444*)	Single nucleotide variant (nonsense)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 2680463	NM_022124.6(CDH23):c.5820+2T>C	CDH23	Single nucleotide variant (splice donor 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 2680460	NM_022124.6(CDH23):c.5976del (p.Asp1993fs)	CDH23 (D1993fs)	Deletion (frameshift variant)	Pituitary adenoma 5, multiple types	GLikely 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 2680457	NM_022124.6(CDH23):c.7101G>A (p.Trp2367Ter)	CDH23 (W127* +1 more)	Single nucleotide variant (nonsense)	Pituitary adenoma 5, multiple types	GPathogenic
Select item 2680456	NM_022124.6(CDH23):c.9319+1G>T	CDH23	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 2680455	NM_022124.6(CDH23):c.4426del (p.Ile1476fs)	CDH23 (I1476fs)	Deletion (frameshift variant)	Pituitary adenoma 5, multiple types	GLikely pathogenic
Select item 2680454	NM_022124.6(CDH23):c.5534A>G (p.Asn1845Ser)	CDH23 (N1845S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 2680452	NM_022124.6(CDH23):c.6377delinsCGT (p.Arg2126fs)	CDH23 (R2126fs)	Indel (frameshift variant)	Pituitary adenoma 5, multiple types	GLikely pathogenic

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