ClinVar for MedGen (Select 330455) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3024170	NM_022124.6(CDH23):c.811A>T (p.Ile271Phe)	CDH23 (I271F)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12	GUncertain significance
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 2584917	NM_022124.6(CDH23):c.1106T>C (p.Leu369Pro)	CDH23 (L369P)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12	GUncertain significance
Select item 2582656	NM_001001331.4(ATP2B2):c.2501G>A (p.Gly834Asp)	ATP2B2 (G789D +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12	GUncertain significance
Select item 2572023	NM_001001331.4(ATP2B2):c.727G>A (p.Gly243Arg)	ATP2B2 (G243R)	Single nucleotide variant (missense variant)	Hearing loss, autosomal dominant 82 +1 more	Gnot provided
Select item 2497746	NM_001001331.4(ATP2B2):c.941-1G>A	ATP2B2	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2445641	NM_022124.6(CDH23):c.7826C>T (p.Pro2609Leu)	CDH23 (P2609L +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12	GLikely pathogenic
Select item 2445640	NM_022124.6(CDH23):c.6965A>T (p.Asp2322Val)	CDH23 (D82V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12	GLikely pathogenic
Select item 2431360	NM_022124.6(CDH23):c.7712T>C (p.Leu2571Pro)	CDH23 (L2571P +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12	GUncertain significance
Select item 2159487	NM_022124.6(CDH23):c.8377C>T (p.Arg2793Trp)	CDH23 (R553W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1803791	NM_022124.6(CDH23):c.6191A>G (p.Asp2064Gly)	CDH23 (D2064G)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12	GUncertain significance
Select item 1801504	NM_022124.6(CDH23):c.9380+5G>C	CDH23	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive nonsyndromic hearing loss 12	GUncertain significance
Select item 1711085	NM_022124.6(CDH23):c.2746G>A (p.Asp916Asn)	CDH23 (D916N)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12 +1 more	GConflicting classifications of pathogenicity
Select item 1705581	NM_022124.6(CDH23):c.3076del (p.Leu1026fs)	CDH23 (L1026fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 12	GPathogenic
Select item 1705553	NM_022124.6(CDH23):c.9381-105C>T	CDH23	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 12	GUncertain significance
Select item 1705380	NM_022124.6(CDH23):c.553G>A (p.Gly185Ser)	CDH23 (G185S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12	GUncertain significance
Select item 1699473	NM_022124.6(CDH23):c.6379G>T (p.Val2127Phe)	CDH23 (V2127F)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12	GLikely pathogenic
Select item 1687564	NM_022124.6(CDH23):c.5001C>A (p.Asn1667Lys)	CDH23 (N1667K)	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 1687329	NM_022124.6(CDH23):c.1081G>T (p.Ala361Ser)	CDH23 (A361S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12	GUncertain significance
Select item 1687043	NM_022124.6(CDH23):c.6992T>C (p.Val2331Ala)	CDH23 (V2331A +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12	GLikely pathogenic
Select item 1687042	NM_022124.6(CDH23):c.805C>T (p.Arg269Trp)	CDH23 (R269W)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1684840	NM_022153.2(VSIR):c.839C>T (p.Ser280Leu)	CDH23, VSIR (S280L)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1D +4 more	GBenign/Likely benign
Select item 1526189	NM_022124.6(CDH23):c.478del (p.Asp160fs)	CDH23 (D160fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 12	GLikely pathogenic
Select item 1492607	NM_022124.6(CDH23):c.2863C>T (p.Arg955Cys)	CDH23 (R955C)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12 +4 more	GUncertain significance
Select item 1491479	NM_022124.6(CDH23):c.9175C>A (p.Pro3059Thr)	CDH23 (P3059T +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1490908	NM_022124.6(CDH23):c.2842G>T (p.Val948Phe)	CDH23 (V948F)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1477521	NM_022124.6(CDH23):c.6533T>A (p.Ile2178Asn)	CDH23 (I2178N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1458365	NM_022124.6(CDH23):c.3579+2T>C	C10orf105, CDH23	Single nucleotide variant (splice donor variant +1 more)	Pituitary adenoma 5, multiple types +3 more	GPathogenic/Likely pathogenic
Select item 1446462	NM_022124.6(CDH23):c.1417G>A (p.Val473Ile)	CDH23 (V473I)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +3 more	GUncertain significance
Select item 1427906	NM_022124.6(CDH23):c.6080T>C (p.Ile2027Thr)	CDH23 (I2027T)	Single nucleotide variant (missense variant)	Pituitary adenoma 5, multiple types +3 more	GUncertain significance
Select item 1424053	NM_022124.6(CDH23):c.7942G>A (p.Val2648Met)	CDH23, LOC111982869 (V2648M +1 more)	Single nucleotide variant (missense variant)	Pituitary adenoma 5, multiple types +3 more	GUncertain significance
Select item 1417433	NM_022124.6(CDH23):c.3296G>A (p.Arg1099Gln)	C10orf105, CDH23 (R1099Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Pituitary adenoma 5, multiple types +3 more	GUncertain significance
Select item 1415187	NM_022124.6(CDH23):c.6323T>C (p.Ile2108Thr)	CDH23 (I2108T)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12 +3 more	GUncertain significance
Select item 1414764	NM_022124.6(CDH23):c.3593T>C (p.Val1198Ala)	C10orf105, CDH23 (V1198A)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1393165	NM_022124.6(CDH23):c.5852A>T (p.Asp1951Val)	CDH23 (D1951V)	Single nucleotide variant (missense variant)	Pituitary adenoma 5, multiple types +3 more	GUncertain significance
Select item 1357019	NM_022124.6(CDH23):c.1143_1176del	CDH23	Deletion (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 12 +3 more	GPathogenic/Likely pathogenic
Select item 1334116	NM_022124.6(CDH23):c.8140G>T (p.Asp2714Tyr)	CDH23 (D2714Y +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12	GLikely pathogenic
Select item 1334115	NM_022124.6(CDH23):c.3211G>A (p.Glu1071Lys)	CDH23 (E1071K)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12	GLikely pathogenic
Select item 1333669	NM_022124.6(CDH23):c.7363-8C>A	CDH23	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 12	GUncertain significance
Select item 1333600	NM_022124.6(CDH23):c.4756G>C (p.Ala1586Pro)	CDH23 (A1586P)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12	GUncertain significance
Select item 1328128	NM_022124.6(CDH23):c.7723G>A (p.Glu2575Lys)	CDH23 (E2575K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1308098	NM_022124.6(CDH23):c.227G>A (p.Arg76His)	CDH23, CDH23-AS1 (R76H)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1304960	NM_022124.6(CDH23):c.9557G>A (p.Arg3186Gln)	CDH23 (R3186Q +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1210373	NM_022124.6(CDH23):c.6047C>T (p.Thr2016Ile)	CDH23 (T2016I)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +1 more	GUncertain significance
Select item 1210372	NM_022124.6(CDH23):c.9587ACA[1] (p.Asn3197del)	CDH23 (N3197del +2 more)	Microsatellite (inframe_deletion)	Usher syndrome type 1D +1 more	GUncertain significance
Select item 1195973	NM_022124.6(CDH23):c.2432G>A (p.Gly811Asp)	CDH23 (G811D)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +1 more	GUncertain significance
Select item 1195972	NM_022124.6(CDH23):c.4286C>G (p.Pro1429Arg)	CDH23 (P1429R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1195971	NM_022124.6(CDH23):c.605A>C (p.Gln202Pro)	CDH23 (Q202P)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +1 more	GUncertain significance
Select item 1195970	NM_022124.6(CDH23):c.4183G>A (p.Gly1395Ser)	C10orf105, CDH23 (G1395S)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1D +1 more	GUncertain significance
Select item 1195952	NM_022124.6(CDH23):c.9538G>T (p.Val3180Phe)	CDH23 (V3180F +2 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +2 more	GUncertain significance
Select item 1195951	NM_022124.6(CDH23):c.1666G>A (p.Asp556Asn)	CDH23 (D556N)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12 +1 more	GUncertain significance
Select item 1195950	NM_022124.6(CDH23):c.5953A>T (p.Ile1985Phe)	CDH23 (I1985F)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +1 more	GUncertain significance
Select item 1195937	NM_022124.6(CDH23):c.2782C>T (p.Arg928Cys)	CDH23 (R928C)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12 +2 more	GUncertain significance
Select item 1195936	NM_022124.6(CDH23):c.9937G>A (p.Glu3313Lys)	CDH23 (E1038K +4 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +2 more	GUncertain significance
Select item 1195935	NM_022124.6(CDH23):c.845G>A (p.Ser282Asn)	CDH23 (S282N)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +1 more	GUncertain significance
Select item 1195934	NM_022124.6(CDH23):c.5030G>A (p.Gly1677Asp)	CDH23 (G1677D)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1195908	NM_022124.6(CDH23):c.2817C>T (p.Leu939=)	CDH23	Single nucleotide variant (synonymous variant)	Usher syndrome type 1D +1 more	GUncertain significance
Select item 1195907	NM_022124.6(CDH23):c.2833G>A (p.Gly945Ser)	CDH23 (G945S)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +2 more	GUncertain significance
Select item 1195906	NM_022124.6(CDH23):c.9382G>A (p.Ala3128Thr)	CDH23 (A25T +2 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +1 more	GUncertain significance
Select item 1195905	NM_022124.6(CDH23):c.4663C>G (p.Arg1555Gly)	CDH23 (R1555G)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12 +1 more	GUncertain significance
Select item 1185689	NM_022124.6(CDH23):c.8722G>C (p.Gly2908Arg)	CDH23 (G2908R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12	GUncertain significance
Select item 1185688	NM_022124.6(CDH23):c.6725T>A (p.Val2242Glu)	CDH23 (V2242E +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12	GUncertain significance
Select item 1185663	NM_022124.6(CDH23):c.8560G>T (p.Gly2854Trp)	CDH23 (G2854W +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12	GUncertain significance
Select item 1185662	NM_022124.6(CDH23):c.8782T>G (p.Phe2928Val)	CDH23 (F2928V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12	GUncertain significance
Select item 1185643	NM_022124.6(CDH23):c.5992G>A (p.Val1998Met)	CDH23 (V1998M)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12	GUncertain significance
Select item 1185641	NM_022124.6(CDH23):c.4457A>C (p.Asp1486Ala)	CDH23 (D1486A)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12	GUncertain significance
Select item 1185640	NM_022124.6(CDH23):c.3972G>C (p.Glu1324Asp)	C10orf105, CDH23 (E1324D)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 12	GUncertain significance
Select item 1185632	NM_022124.6(CDH23):c.2956del (p.Leu986fs)	CDH23 (L986fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 12	GLikely pathogenic
Select item 1185615	NM_022124.6(CDH23):c.3371T>G (p.Leu1124Arg)	C10orf105, CDH23 (L1124R)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 12	GUncertain significance
Select item 1185613	NM_022124.6(CDH23):c.6368G>A (p.Gly2123Glu)	CDH23 (G2123E)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12	GUncertain significance
Select item 1185611	NM_022124.6(CDH23):c.9078-7C>A	CDH23	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 12	GUncertain significance
Select item 1185604	NM_022124.6(CDH23):c.4884T>A (p.Asn1628Lys)	CDH23 (N1628K)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12	GUncertain significance
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 1185119	NM_022124.6(CDH23):c.8012G>A (p.Gly2671Asp)	LOC111982869, CDH23 (G2671D +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12	GUncertain significance
Select item 1184597	NM_022124.6(CDH23):c.1986+3A>T	CDH23	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 12	GLikely pathogenic
Select item 1180655	NM_022124.6(CDH23):c.2867A>G (p.Glu956Gly)	CDH23 (E956G)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12 +1 more	GLikely pathogenic
Select item 1180612	NM_022124.6(CDH23):c.4562A>G (p.Asn1521Ser)	CDH23 (N1521S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12 +3 more	GPathogenic/Likely pathogenic
Select item 1177636	NM_022124.6(CDH23):c.3431-133T>C	C10orf105, CDH23	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 12 +2 more	GBenign/Likely benign
Select item 1177635	NM_022124.6(CDH23):c.3431-205A>C	CDH23, C10orf105	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 12 +2 more	GBenign/Likely benign
Select item 1177634	NM_022124.6(CDH23):c.3430+114T>C	CDH23, C10orf105	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 12 +2 more	GBenign
Select item 1177629	NM_022124.6(CDH23):c.2060-176C>T	CDH23	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1177628	NM_022124.6(CDH23):c.1987-123G>A	CDH23	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1177613	NM_022124.6(CDH23):c.5187+99T>C	CDH23	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 12 +3 more	GBenign
Select item 1177612	NM_022124.6(CDH23):c.832+101G>A	CDH23	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 12 +3 more	GBenign
Select item 1177611	NM_022124.6(CDH23):c.625-93G>A	CDH23	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 12 +2 more	GBenign
Select item 1177610	NM_022124.6(CDH23):c.624+64C>T	CDH23	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 12 +3 more	GBenign/Likely benign
Select item 1177593	NM_022124.6(CDH23):c.4846-79G>A	CDH23	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1175713	NM_022124.6(CDH23):c.6841G>A (p.Val2281Ile)	CDH23 (V2281I +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1165924	NM_022124.6(CDH23):c.429+18T>C	CDH23-AS1, CDH23	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 12 +3 more	GBenign/Likely benign
Select item 1143151	NM_022124.6(CDH23):c.2100C>T (p.Arg700=)	CDH23	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1085832	NM_022124.6(CDH23):c.8071T>C (p.Leu2691=)	CDH23	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1071896	NM_022124.6(CDH23):c.9389_9390del (p.Pro3130fs)	CDH23 (P27fs +2 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1065907	NM_022124.6(CDH23):c.871G>A (p.Gly291Arg)	CDH23 (G291R)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely pathogenic
Select item 1064756	NM_022124.6(CDH23):c.7393C>T (p.Arg2465Trp)	CDH23 (R225W +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +1 more	GUncertain significance
Select item 1064609	NM_022124.6(CDH23):c.6555G>T (p.Glu2185Asp)	CDH23 (E2185D)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1064608	NM_022124.6(CDH23):c.1291-1G>A	CDH23	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 12 +1 more	GPathogenic
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 1031333	NM_022124.6(CDH23):c.5113G>A (p.Gly1705Ser)	CDH23 (G1705S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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

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