ClinVar for MedGen (Select 322051) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068473	NM_001384140.1(PCDH15):c.423T>G (p.Asn141Lys)	PCDH15 (N119K +2 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1D	GUncertain significance
Select item 3068472	NM_001384140.1(PCDH15):c.4671+1564del	PCDH15 (E1685fs +1 more)	Deletion (frameshift variant +2 more)	Usher syndrome type 1D	GLikely pathogenic
Select item 3065498	NM_022124.6(CDH23):c.2375dup (p.Pro793fs)	CDH23 (P793fs)	Duplication (frameshift variant)	Usher syndrome type 1D	GLikely pathogenic
Select item 3064417	NM_022124.6(CDH23):c.2337_2339del (p.Lys779_Asp780delinsAsn)	CDH23	Deletion (inframe_indel)	Usher syndrome type 1D	GUncertain significance
Select item 3064401	NM_022124.6(CDH23):c.4693TAC[1] (p.Tyr1566del)	CDH23 (Y1566del)	Microsatellite (inframe_deletion)	Usher syndrome type 1D	GUncertain significance
Select item 2628054	NM_022124.6(CDH23):c.9121C>G (p.Leu3041Val)	CDH23 (L3041V +1 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1D	GLikely pathogenic
Select item 1980802	NM_022124.6(CDH23):c.2864G>T (p.Arg955Leu)	CDH23 (R955L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1805315	NM_022124.6(CDH23):c.9246_9247del (p.Phe3083fs)	CDH23 (F3083fs +1 more)	Microsatellite (frameshift variant)	Usher syndrome type 1D +1 more	GPathogenic
Select item 1726953	NM_001384140.1(PCDH15):c.1073_1074del (p.His358fs)	PCDH15 (H321fs +3 more)	Deletion (frameshift variant)	Usher syndrome type 1D	GLikely pathogenic
Select item 1726950	NM_001384140.1(PCDH15):c.738_739insT (p.Thr247fs)	PCDH15 (T210fs +3 more)	Insertion (frameshift variant)	Usher syndrome type 1D	GLikely pathogenic
Select item 1726856	NM_001384140.1(PCDH15):c.3788del (p.Lys1263fs)	PCDH15 (K1192fs +6 more)	Deletion (frameshift variant)	Usher syndrome type 1D	GLikely pathogenic
Select item 1726750	NM_001384140.1(PCDH15):c.3600T>A (p.Tyr1200Ter)	PCDH15 (Y1129* +6 more)	Single nucleotide variant (nonsense)	Usher syndrome type 1D	GLikely pathogenic
Select item 1726676	NM_001384140.1(PCDH15):c.3462_3463del (p.Glu1155fs)	PCDH15 (E1084fs +6 more)	Deletion (frameshift variant)	Usher syndrome type 1D	GLikely pathogenic
Select item 1726674	NM_001384140.1(PCDH15):c.1105C>T (p.Gln369Ter)	PCDH15 (Q332* +3 more)	Single nucleotide variant (nonsense)	Usher syndrome type 1D	GLikely pathogenic
Select item 1726615	NM_001384140.1(PCDH15):c.1316del (p.Pro439fs)	PCDH15 (P402fs +5 more)	Deletion (frameshift variant)	Usher syndrome type 1D	GLikely pathogenic
Select item 1726573	NM_001384140.1(PCDH15):c.2822del (p.Lys941fs)	PCDH15 (K870fs +6 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1726520	NM_001384140.1(PCDH15):c.2097_2098insG (p.Thr700fs)	PCDH15 (T629fs +6 more)	Insertion (frameshift variant)	Usher syndrome type 1D	GLikely pathogenic
Select item 1726482	NM_001384140.1(PCDH15):c.811dup (p.Val271fs)	PCDH15 (V234fs +3 more)	Duplication (frameshift variant)	Usher syndrome type 1D	GLikely pathogenic
Select item 1726417	NM_001384140.1(PCDH15):c.3152_3153insC (p.Lys1051fs)	PCDH15 (K1014fs +6 more)	Insertion (frameshift variant)	Usher syndrome type 1D	GLikely pathogenic
Select item 1726374	NM_001384140.1(PCDH15):c.1322_1323insGTCTCTA (p.His442fs)	PCDH15 (H405fs +5 more)	Insertion (frameshift variant)	Usher syndrome type 1D	GLikely pathogenic
Select item 1726321	NM_001384140.1(PCDH15):c.2952_2953delinsC (p.Ser985fs)	PCDH15 (S914fs +6 more)	Indel (frameshift variant)	Usher syndrome type 1D	GLikely pathogenic
Select item 1726305	NM_001384140.1(PCDH15):c.3144dup (p.Ala1049fs)	PCDH15 (A1012fs +6 more)	Duplication (frameshift variant)	Usher syndrome type 1D	GLikely pathogenic
Select item 1726277	NM_001384140.1(PCDH15):c.838_839delinsG (p.Leu280fs)	PCDH15 (L243fs +3 more)	Indel (frameshift variant)	Usher syndrome type 1D	GLikely pathogenic
Select item 1726216	NM_001384140.1(PCDH15):c.1515dup (p.Thr506fs)	PCDH15 (T469fs +5 more)	Duplication (frameshift variant)	Usher syndrome type 1D	GLikely pathogenic
Select item 1725956	NM_001384140.1(PCDH15):c.251G>A (p.Trp84Ter)	PCDH15 (W62* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1725820	NM_001384140.1(PCDH15):c.60_63del (p.Phe21fs)	PCDH15 (F21fs)	Deletion (frameshift variant)	Usher syndrome type 1D	GLikely pathogenic
Select item 1725765	NM_001384140.1(PCDH15):c.1231G>T (p.Gly411Ter)	PCDH15 (G374* +3 more)	Single nucleotide variant (nonsense)	Usher syndrome type 1D	GLikely pathogenic
Select item 1725734	NM_001384140.1(PCDH15):c.1423C>T (p.Gln475Ter)	PCDH15 (Q438* +5 more)	Single nucleotide variant (nonsense)	Usher syndrome type 1D	GLikely pathogenic
Select item 1725693	NM_001384140.1(PCDH15):c.2518_2519del (p.Gln840fs)	PCDH15 (Q769fs +6 more)	Deletion (frameshift variant)	Usher syndrome type 1D	GLikely pathogenic
Select item 1725641	NM_001384140.1(PCDH15):c.355del (p.Gln119fs)	PCDH15 (Q119fs +2 more)	Deletion (frameshift variant)	Usher syndrome type 1D	GLikely pathogenic
Select item 1725586	NM_001384140.1(PCDH15):c.2208_2211del (p.Gly737fs)	PCDH15 (G666fs +6 more)	Deletion (frameshift variant)	Usher syndrome type 1D	GLikely pathogenic
Select item 1725430	NM_001384140.1(PCDH15):c.1495_1496insA (p.Val499fs)	PCDH15 (V462fs +5 more)	Insertion (frameshift variant)	Usher syndrome type 1D	GLikely pathogenic
Select item 1725262	NM_001384140.1(PCDH15):c.2176_2188del (p.Ser726fs)	PCDH15 (S655fs +6 more)	Deletion (frameshift variant)	Usher syndrome type 1D	GLikely pathogenic
Select item 1725261	NM_001384140.1(PCDH15):c.2118_2119insA (p.Val707fs)	PCDH15 (V636fs +6 more)	Insertion (frameshift variant)	Usher syndrome type 1D	GLikely pathogenic
Select item 1725234	NM_001384140.1(PCDH15):c.4034_4035del (p.Tyr1345fs)	PCDH15 (Y1274fs +6 more)	Deletion (frameshift variant)	Usher syndrome type 1D	GLikely pathogenic
Select item 1724992	NM_001384140.1(PCDH15):c.1102_1103del (p.Glu368fs)	PCDH15 (E331fs +3 more)	Deletion (frameshift variant)	Usher syndrome type 1D	GLikely pathogenic
Select item 1724889	NM_001384140.1(PCDH15):c.3613A>T (p.Lys1205Ter)	PCDH15 (K1134* +6 more)	Single nucleotide variant (nonsense)	Usher syndrome type 1D	GLikely pathogenic
Select item 1724877	NM_001384140.1(PCDH15):c.2898_2899del (p.Arg966fs)	PCDH15 (R895fs +6 more)	Microsatellite (frameshift variant)	Usher syndrome type 1D	GLikely pathogenic
Select item 1724809	NM_001384140.1(PCDH15):c.3112G>T (p.Glu1038Ter)	PCDH15 (E1001* +6 more)	Single nucleotide variant (nonsense)	Usher syndrome type 1D	GLikely pathogenic
Select item 1724626	NM_001384140.1(PCDH15):c.3488del (p.Val1163fs)	PCDH15 (V1092fs +6 more)	Deletion (frameshift variant)	Usher syndrome type 1D	GLikely pathogenic
Select item 1724565	NM_001384140.1(PCDH15):c.3204_3205del (p.Tyr1069fs)	PCDH15 (Y1032fs +6 more)	Microsatellite (frameshift variant)	Usher syndrome type 1D	GLikely pathogenic
Select item 1724428	NM_001384140.1(PCDH15):c.1454_1455del (p.Asp485fs)	PCDH15 (D448fs +5 more)	Deletion (frameshift variant)	Usher syndrome type 1D	GLikely pathogenic
Select item 1724407	NM_001384140.1(PCDH15):c.3907del (p.Tyr1303fs)	PCDH15 (Y1232fs +6 more)	Deletion (frameshift variant)	Usher syndrome type 1D	GLikely pathogenic
Select item 1724187	NM_001384140.1(PCDH15):c.2205del (p.Phe735fs)	PCDH15 (F664fs +6 more)	Deletion (frameshift variant)	Usher syndrome type 1D	GLikely pathogenic
Select item 1724147	NM_001384140.1(PCDH15):c.3910_3911del (p.Thr1304fs)	PCDH15 (T1233fs +6 more)	Microsatellite (frameshift variant)	Usher syndrome type 1D	GLikely pathogenic
Select item 1724143	NM_001384140.1(PCDH15):c.4098_4099dup (p.Gly1367fs)	PCDH15 (G1296fs +6 more)	Microsatellite (frameshift variant)	Usher syndrome type 1D	GLikely pathogenic
Select item 1724066	NM_001384140.1(PCDH15):c.3745C>T (p.Gln1249Ter)	PCDH15 (Q1178* +6 more)	Single nucleotide variant (nonsense)	Usher syndrome type 1D	GLikely pathogenic
Select item 1723942	NM_001384140.1(PCDH15):c.4015A>T (p.Lys1339Ter)	PCDH15 (K1268* +6 more)	Single nucleotide variant (nonsense)	Usher syndrome type 1D	GLikely pathogenic
Select item 1710061	NM_022124.6(CDH23):c.8208_8209del (p.Val2737fs)	CDH23 (V2737fs +1 more)	Deletion (frameshift variant)	Usher syndrome type 1D +1 more	GPathogenic/Likely pathogenic
Select item 1697268	NM_022124.6(CDH23):c.5369-1G>A	CDH23	Single nucleotide variant (splice acceptor variant)	Usher syndrome type 1 +1 more	GLikely pathogenic
Select item 1697267	NM_022124.6(CDH23):c.3220+1G>A	CDH23	Single nucleotide variant (splice donor variant)	not provided +2 more	GLikely pathogenic
Select item 1687244	NM_022124.6(CDH23):c.3431-1G>A	C10orf105, CDH23	Single nucleotide variant (splice acceptor variant +1 more)	Usher syndrome type 1D	GLikely pathogenic
Select item 1686009	NM_001384140.1(PCDH15):c.1441-1G>T	PCDH15	Single nucleotide variant (splice acceptor variant)	Usher syndrome type 1D	GPathogenic
Select item 1685258	NM_022124.6(CDH23):c.5584G>A (p.Glu1862Lys)	CDH23 (E1862K)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +2 more	GLikely pathogenic
Select item 1684840	NM_022153.2(VSIR):c.839C>T (p.Ser280Leu)	CDH23, VSIR (S280L)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 12 +4 more	GBenign/Likely benign
Select item 1492607	NM_022124.6(CDH23):c.2863C>T (p.Arg955Cys)	CDH23 (R955C)	Single nucleotide variant (missense variant)	not provided +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)	Inborn genetic diseases +4 more	GUncertain significance
Select item 1459364	NM_001384140.1(PCDH15):c.1399C>T (p.Gln467Ter)	PCDH15 (Q467* +5 more)	Single nucleotide variant (nonsense)	Usher syndrome type 1D +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)	Usher syndrome type 1D +3 more	GUncertain significance
Select item 1406208	NM_001384140.1(PCDH15):c.4246C>A (p.Gln1416Lys)	PCDH15 (Q1391K +8 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +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 1334341	NM_033056.4(PCDH15):c.5371CCT[1] (p.Pro1792_Pro1793del)	PCDH15	Microsatellite (inframe_deletion +1 more)	not provided +3 more	GUncertain significance
Select item 1319970	NM_022124.6(CDH23):c.6253_6254insC (p.Gly2085fs)	CDH23 (G2085fs)	Insertion (frameshift variant)	Usher syndrome type 1D	GLikely pathogenic
Select item 1319964	NM_022124.6(CDH23):c.6255_6256insCTCCCTTT (p.Phe2086fs)	CDH23 (F2086fs)	Insertion (frameshift variant)	Usher syndrome type 1D	GLikely pathogenic
Select item 1310876	NM_022124.6(CDH23):c.2171G>C (p.Arg724Pro)	CDH23 (R724P)	Single nucleotide variant (missense variant)	Usher syndrome type 1D +1 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 1301580	NM_001384140.1(PCDH15):c.4672-1712_4672-1710del	PCDH15 (E1735del +1 more)	Microsatellite (inframe_deletion +2 more)	Usher syndrome type 1D	GUncertain significance
Select item 1284435	NM_001384140.1(PCDH15):c.4978dup (p.Ser1660fs)	PCDH15 (S1595fs +4 more)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 23 +2 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 1200919	NM_001384140.1(PCDH15):c.4672-1444_4672-1441dup	PCDH15	Duplication (3 prime UTR variant +1 more)	not provided +3 more	GLikely benign
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)	Autosomal recessive nonsyndromic hearing loss 12 +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 1185587	NM_022124.6(CDH23):c.3353del (p.Gly1118fs)	CDH23, C10orf105 (G1118fs)	Deletion (3 prime UTR variant +1 more)	Usher syndrome type 1D	GPathogenic
Select item 1185586	NM_022124.5(CDH23):c.337del	CDH23, CDH23-AS1	Deletion (genic upstream transcript variant)	Usher syndrome type 1D	GPathogenic
Select item 1177636	NM_022124.6(CDH23):c.3431-133T>C	C10orf105, CDH23	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1177635	NM_022124.6(CDH23):c.3431-205A>C	C10orf105, CDH23	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1177634	NM_022124.6(CDH23):c.3430+114T>C	C10orf105, CDH23	Single nucleotide variant (intron variant)	not provided +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

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