ClinVar for MedGen (Select 356393) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24126651.	NM_001384140.1(PCDH15):c.180G>A (p.Met60Ile) GRCh37: Chr10:56138680 GRCh38: Chr10:54378920	PCDH15	M60I, M38I, M65I	Usher syndrome type 1F	Uncertain significance (Jan 24, 2023)	criteria provided, single submitter
Select item 24126642.	NM_001384140.1(PCDH15):c.440T>G (p.Phe147Cys) GRCh37: Chr10:56128914 GRCh38: Chr10:54369154	PCDH15	F125C, F147C, F152C	Usher syndrome type 1F	Uncertain significance (Jan 24, 2023)	criteria provided, single submitter
Select item 24126633.	NM_001384140.1(PCDH15):c.985G>A (p.Gly329Arg) GRCh37: Chr10:55996583 GRCh38: Chr10:54236823	PCDH15	G329R, G292R, G307R, G334R	Usher syndrome type 1F	Uncertain significance (Jan 24, 2023)	criteria provided, single submitter
Select item 24126614.	NM_001384140.1(PCDH15):c.1784+1G>T GRCh37: Chr10:55912859 GRCh38: Chr10:54153099	PCDH15		Usher syndrome type 1F	Likely pathogenic (Jan 24, 2023)	criteria provided, single submitter
Select item 24126605.	NM_001384140.1(PCDH15):c.2754dup (p.Met919fs) GRCh37: Chr10:55755522-55755523 GRCh38: Chr10:53995762-53995763	PCDH15	M848fs, M897fs, M919fs, M926fs, M931fs, M882fs, M924fs	Usher syndrome type 1F	Pathogenic (Jan 24, 2023)	criteria provided, single submitter
Select item 24126596.	NM_001384140.1(PCDH15):c.3232+1G>A GRCh37: Chr10:55700625 GRCh38: Chr10:53940865	PCDH15		Usher syndrome type 1F	Likely pathogenic (Jan 24, 2023)	criteria provided, single submitter
Select item 24126587.	NM_001384140.1(PCDH15):c.3761dup (p.Asn1254fs) GRCh37: Chr10:55616979-55616980 GRCh38: Chr10:53857219-53857220	PCDH15	N1259fs, N1261fs, N1217fs, N1254fs, N1183fs, N1232fs, N1266fs	Usher syndrome type 1F	Pathogenic (Jan 24, 2023)	criteria provided, single submitter
Select item 24126568.	NM_001384140.1(PCDH15):c.4310C>T (p.Pro1437Leu) GRCh37: Chr10:55587210 GRCh38: Chr10:53827450	PCDH15	P1412L, P1434L, P1442L, P1444L, P1397L, P1437L, P1449L, P1366L, P1415L	Usher syndrome type 1F	Uncertain significance (Jan 24, 2023)	criteria provided, single submitter
Select item 21637419.	NM_001384140.1(PCDH15):c.2624C>T (p.Ser875Leu) GRCh37: Chr10:55780079 GRCh38: Chr10:54020319	PCDH15	S838L, S882L, S853L, S875L, S887L, S804L, S880L	Usher syndrome type 1F, not specified, not provided	Uncertain significance (Apr 29, 2023)	criteria provided, multiple submitters, no conflicts
Select item 213686410.	NM_001384140.1(PCDH15):c.1863_1864dup (p.Ser622fs) GRCh37: Chr10:55892687-55892688 GRCh38: Chr10:54132927-54132928	PCDH15	S585fs, S634fs, S600fs, S622fs, S627fs, S629fs	Usher syndrome type 1F, not provided	Pathogenic (Jan 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 213686311.	NM_001384140.1(PCDH15):c.4323_4328del (p.Pro1442_Pro1443del) GRCh37: Chr10:55587192-55587197 GRCh38: Chr10:53827432-53827437	PCDH15		Usher syndrome type 1F, not provided	Uncertain significance (Jan 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 187841212.	NC_000010.10:g.(?_55580859)_(55591294_55600079)del GRCh37: Chr10:55580859-55600079	PCDH15		Usher syndrome type 1F	Likely pathogenic (Dec 29, 2022)	criteria provided, single submitter
Select item 172329213.	NC_000010.10:g.(55663131_55698574)_(55945029_55955442)dup GRCh37: Chr10:55663131-55955442	PCDH15		Usher syndrome type 1F	Likely pathogenic (Oct 11, 2022)	criteria provided, single submitter
Select item 170421214.	NM_001384140.1(PCDH15):c.4671+1393G>C GRCh37: Chr10:55568923 GRCh38: Chr10:53809163	PCDH15	E1627D, E1634D	Usher syndrome type 1F	Uncertain significance	criteria provided, single submitter
Select item 168730015.	NM_001384140.1(PCDH15):c.60_61del (p.Leu20_Phe21insTer) GRCh37: Chr10:56423962-56423963 GRCh38: Chr10:54664202-54664203	PCDH15		Usher syndrome type 1F	Pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 168338616.	NC_000010.10:g.(55849824_55892634)_(55943354_55944893)del GRCh37: Chr10:55849824-55944893	PCDH15		Usher syndrome type 1F	Likely pathogenic (Apr 12, 2022)	criteria provided, single submitter
Select item 146897017.	NM_001384140.1(PCDH15):c.3122+1G>T GRCh37: Chr10:55719491 GRCh38: Chr10:53959731	PCDH15		not provided, Usher syndrome type 1F	Likely pathogenic (Jan 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 145936418.	NM_001384140.1(PCDH15):c.1399C>T (p.Gln467Ter) GRCh37: Chr10:55944935 GRCh38: Chr10:54185175	PCDH15	Q467, Q430, Q479, Q445, Q472, Q474	Usher syndrome type 1D, Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23, not provided	Pathogenic/Likely pathogenic (Nov 9, 2021)	criteria provided, multiple submitters, no conflicts
Select item 145343919.	NM_001384140.1(PCDH15):c.1529del (p.Pro510fs) GRCh37: Chr10:55943265 GRCh38: Chr10:54183505	PCDH15	P515fs, P473fs, P517fs, P522fs, P510fs, P488fs	not provided, Usher syndrome type 1F	Pathogenic (Jan 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 140620820.	NM_001384140.1(PCDH15):c.4246C>A (p.Gln1416Lys) GRCh37: Chr10:55587274 GRCh38: Chr10:53827514	PCDH15	Q1391K, Q1394K, Q1413K, Q1345K, Q1416K, Q1428K, Q1376K, Q1421K, Q1423K	Usher syndrome type 1D, Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23, not provided, Usher syndrome type 1F	Uncertain significance (Jan 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 136228421.	NM_001384140.1(PCDH15):c.3433C>T (p.Gln1145Ter) GRCh37: Chr10:55663071 GRCh38: Chr10:53903311	PCDH15	Q1074, Q1150, Q1152, Q1108, Q1157, Q1123, Q1145*	not provided, Usher syndrome type 1F	Pathogenic/Likely pathogenic (Jan 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 134372222.	NM_001384140.1(PCDH15):c.841A>G (p.Thr281Ala) GRCh37: Chr10:56077066 GRCh38: Chr10:54317306	PCDH15	T244A, T259A, T281A, T286A	Usher syndrome type 1F, not specified	Uncertain significance (Jan 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 134372123.	NM_001384140.1(PCDH15):c.423_430dup (p.Ser144fs) GRCh37: Chr10:56128923-56128924 GRCh38: Chr10:54369163-54369164	PCDH15	S122fs, S144fs, S149fs	not provided, Usher syndrome type 1F	Pathogenic (Apr 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134372024.	NC_000010.10:g.(55913054_55943203)_(55996692_56077030)del GRCh37: Chr10:55913054-56077030	PCDH15		Usher syndrome type 1F	Likely pathogenic (Feb 23, 2022)	criteria provided, single submitter
Select item 133971525.	NM_001384140.1(PCDH15):c.3495_3496del (p.Arg1165fs) GRCh37: Chr10:55663008-55663009 GRCh38: Chr10:53903248-53903249	PCDH15	R1094fs, R1128fs, R1143fs, R1165fs, R1170fs, R1172fs, R1177fs	Usher syndrome type 1F	Likely pathogenic (Jan 18, 2022)	criteria provided, single submitter
Select item 133434126.	NM_033056.4(PCDH15):c.5371CCT[1] (p.Pro1792_Pro1793del) GRCh37: Chr10:55582107-55582112 GRCh38: Chr10:53822347-53822352	PCDH15		not provided, Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1D, Usher syndrome type 1F	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 132693427.	NM_001384140.1(PCDH15):c.876+1G>C GRCh37: Chr10:56077030 GRCh38: Chr10:54317270	PCDH15		Usher syndrome type 1F	Likely pathogenic (Dec 3, 2021)	criteria provided, single submitter
Select item 128443528.	NM_001384140.1(PCDH15):c.4978dup (p.Ser1660fs) GRCh37: Chr10:55566583-55566584 GRCh38: Chr10:53806823-53806824	PCDH15	S1595fs, S1597fs, S1602fs, S1638fs, S1660fs	Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1D, Usher syndrome type 1F	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 121961929.	NM_001384140.1(PCDH15):c.1411A>G (p.Arg471Gly) GRCh37: Chr10:55944923 GRCh38: Chr10:54185163	PCDH15	R434G, R449G, R471G, R476G, R478G, R483G	not provided	Uncertain significance (Mar 21, 2019)	criteria provided, single submitter
Select item 120965330.	NM_033056.4(PCDH15):c.5674C>T (p.Leu1892Phe) GRCh37: Chr10:55581812 GRCh38: Chr10:53822052	PCDH15	L1823F, L1852F, L1869F, L1870F, L1872F, L1889F, L1892F, L1894F, L1899F	Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1F	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter
Select item 120961931.	NM_001384140.1(PCDH15):c.3832C>A (p.Gln1278Lys) GRCh37: Chr10:55600231 GRCh38: Chr10:53840471	PCDH15	Q1207K, Q1241K, Q1256K, Q1278K, Q1283K, Q1285K, Q1290K	Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1F	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter
Select item 120961832.	NM_033056.4(PCDH15):c.5339C>G (p.Pro1780Arg) GRCh37: Chr10:55582147 GRCh38: Chr10:53822387	PCDH15	P1711R, P1740R, P1757R, P1758R, P1760R, P1777R, P1780R, P1782R, P1787R	Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1F	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter
Select item 120961733.	NM_001384140.1(PCDH15):c.3035G>C (p.Gly1012Ala) GRCh37: Chr10:55719579 GRCh38: Chr10:53959819	PCDH15	G1012A, G1017A, G1019A, G1024A, G941A, G975A, G990A	Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1F	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter
Select item 120961634.	NM_001384140.1(PCDH15):c.4208A>G (p.Lys1403Arg) GRCh37: Chr10:55588328 GRCh38: Chr10:53828568	PCDH15	K1332R, K1381R, K1403R, K1408R, K1410R, K1415R	not provided, Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1F	Uncertain significance (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120959235.	NM_001384140.1(PCDH15):c.2093C>T (p.Thr698Ile) GRCh37: Chr10:55826644 GRCh38: Chr10:54066884	PCDH15	T627I, T661I, T676I, T698I, T703I, T705I, T710I	not provided, Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23	Uncertain significance (Jun 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120959136.	NM_001384140.1(PCDH15):c.902C>T (p.Thr301Met) GRCh37: Chr10:55996666 GRCh38: Chr10:54236906	PCDH15	T264M, T279M, T301M, T306M	not provided, Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23	Uncertain significance (Aug 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120959037.	NM_001384140.1(PCDH15):c.1891G>T (p.Val631Phe) GRCh37: Chr10:55892661 GRCh38: Chr10:54132901	PCDH15	V594F, V609F, V631F, V636F, V638F, V643F	Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1F	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter
Select item 120958938.	NM_001384140.1(PCDH15):c.1843C>T (p.Arg615Cys) GRCh37: Chr10:55892709 GRCh38: Chr10:54132949	PCDH15	R578C, R593C, R615C, R620C, R622C, R627C	not provided, Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1F	Uncertain significance (Jul 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120958839.	NM_001384140.1(PCDH15):c.3768T>C (p.Pro1256=) GRCh37: Chr10:55616973 GRCh38: Chr10:53857213	PCDH15		Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1F	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter
Select item 120091940.	NM_001384140.1(PCDH15):c.4672-1444_4672-1441dup GRCh37: Chr10:55568330-55568331 GRCh38: Chr10:53808570-53808571	PCDH15		Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1D, Usher syndrome type 1F, not provided	Likely benign (Nov 9, 2021)	criteria provided, multiple submitters, no conflicts
Select item 119890641.	NM_033056.4(PCDH15):c.4552G>A (p.Asp1518Asn) GRCh37: Chr10:55582934 GRCh38: Chr10:53823174	PCDH15	D1449N, D1478N, D1495N, D1496N, D1498N, D1515N, D1518N, D1520N, D1525N	not provided	Uncertain significance (Jan 4, 2021)	criteria provided, single submitter
Select item 119578042.	NM_001384140.1(PCDH15):c.1651G>A (p.Gly551Arg) GRCh37: Chr10:55912993 GRCh38: Chr10:54153233	PCDH15	G514R, G529R, G551R, G556R, G558R, G563R	not provided	Uncertain significance (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 119111443.	NM_001384140.1(PCDH15):c.3656A>G (p.Lys1219Arg) GRCh37: Chr10:55626463 GRCh38: Chr10:53866703	PCDH15	K1148R, K1182R, K1197R, K1219R, K1224R, K1226R, K1231R	not provided	Uncertain significance (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 119043644.	NM_001384140.1(PCDH15):c.1483G>A (p.Val495Ile) GRCh37: Chr10:55943311 GRCh38: Chr10:54183551	PCDH15	V458I, V473I, V495I, V500I, V502I, V507I	not provided	Uncertain significance (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 118025245.	NM_033056.4(PCDH15):c.5721_5724del (p.Leu1908fs) GRCh37: Chr10:55581762-55581765 GRCh38: Chr10:53822002-53822005	PCDH15	L1839fs, L1868fs, L1885fs, L1886fs, L1888fs, L1905fs, L1908fs, L1910fs, L1915fs	not provided	Conflicting interpretations of pathogenicity (Sep 3, 2022)	criteria provided, conflicting interpretations
Select item 117763346.	NM_001384140.1(PCDH15):c.705+93C>T GRCh37: Chr10:56089263 GRCh38: Chr10:54329503	PCDH15		not provided, Usher syndrome type 1F	Benign (Jul 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 117763247.	NM_001384140.1(PCDH15):c.2220+47T>C GRCh37: Chr10:55826470 GRCh38: Chr10:54066710	PCDH15		not provided, Usher syndrome type 1F	Benign (Jul 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 117759248.	NM_001384140.1(PCDH15):c.92-52T>G GRCh37: Chr10:56287689 GRCh38: Chr10:54527929	LOC105378311, PCDH15		not provided, Usher syndrome type 1F	Benign (Jul 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 117759149.	NM_001384140.1(PCDH15):c.594+232A>G GRCh37: Chr10:56105893 GRCh38: Chr10:54346133	PCDH15		not provided, Usher syndrome type 1F	Benign (Jul 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 115597450.	NM_001384140.1(PCDH15):c.1918-6C>T GRCh37: Chr10:55849829 GRCh38: Chr10:54090069	PCDH15		not provided	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 113481851.	NM_033056.4(PCDH15):c.5655C>T (p.His1885=) GRCh37: Chr10:55581831 GRCh38: Chr10:53822071	PCDH15		Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23, not provided	Conflicting interpretations of pathogenicity (Jun 22, 2022)	criteria provided, conflicting interpretations
Select item 112336052.	NM_033056.4(PCDH15):c.4524G>A (p.Lys1508=) GRCh37: Chr10:55582962 GRCh38: Chr10:53823202	PCDH15		not provided	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 111762153.	NM_001384140.1(PCDH15):c.3888T>C (p.Asp1296=) GRCh37: Chr10:55600175 GRCh38: Chr10:53840415	PCDH15		not provided	Likely benign (Oct 18, 2022)	criteria provided, single submitter
Select item 110073354.	NM_033056.4(PCDH15):c.5589A>G (p.Thr1863=) GRCh37: Chr10:55581897 GRCh38: Chr10:53822137	PCDH15		not provided	Likely benign (Sep 29, 2022)	criteria provided, single submitter
Select item 107681155.	NM_001384140.1(PCDH15):c.4102G>T (p.Glu1368Ter) GRCh37: Chr10:55591175 GRCh38: Chr10:53831415	PCDH15	E1297, E1331, E1346, E1368, E1373, E1375, E1380*	Usher syndrome type 1F, not provided	Pathogenic/Likely pathogenic (Jan 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 107417056.	NM_001384140.1(PCDH15):c.1401del (p.Gln467fs) GRCh37: Chr10:55944933 GRCh38: Chr10:54185173	PCDH15	Q430fs, Q445fs, Q467fs, Q472fs, Q474fs, Q479fs	Usher syndrome type 1F, not provided	Pathogenic/Likely pathogenic (Jan 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 107347657.	NM_001384140.1(PCDH15):c.3717+1G>T GRCh37: Chr10:55626401 GRCh38: Chr10:53866641	PCDH15		not provided, Usher syndrome type 1F, Usher syndrome type 1D	Pathogenic/Likely pathogenic (Apr 6, 2023)	criteria provided, multiple submitters, no conflicts
Select item 106656458.	NM_001384140.1(PCDH15):c.1440+2T>C GRCh37: Chr10:55944892 GRCh38: Chr10:54185132	PCDH15		not provided, Usher syndrome type 1F	Likely pathogenic (Jan 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 106590659.	NM_001384140.1(PCDH15):c.3501+2T>C GRCh37: Chr10:55663001 GRCh38: Chr10:53903241	PCDH15		not provided, Usher syndrome type 1F	Pathogenic/Likely pathogenic (Jan 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 106087160.	NM_001384140.1(PCDH15):c.4279C>T (p.Pro1427Ser) GRCh37: Chr10:55587241 GRCh38: Chr10:53827481	PCDH15	P1356S, P1387S, P1402S, P1405S, P1424S, P1427S, P1432S, P1434S, P1439S	not provided	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 106017761.	NM_001384140.1(PCDH15):c.3797A>C (p.Asp1266Ala) GRCh37: Chr10:55616944 GRCh38: Chr10:53857184	PCDH15	D1195A, D1229A, D1244A, D1266A, D1271A, D1273A, D1278A	not provided	Uncertain significance (Feb 3, 2022)	criteria provided, single submitter
Select item 105967662.	NM_033056.4(PCDH15):c.5335C>T (p.Pro1779Ser) GRCh37: Chr10:55582151 GRCh38: Chr10:53822391	PCDH15	P1710S, P1739S, P1756S, P1757S, P1759S, P1776S, P1779S, P1781S, P1786S	not provided	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 105570063.	NM_001384140.1(PCDH15):c.4192A>C (p.Ser1398Arg) GRCh37: Chr10:55591085 GRCh38: Chr10:53831325	PCDH15	S1327R, S1361R, S1376R, S1398R, S1403R, S1405R, S1410R	not provided	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 105497364.	NM_001384140.1(PCDH15):c.215C>A (p.Thr72Asn) GRCh37: Chr10:56138645 GRCh38: Chr10:54378885	PCDH15	T50N, T72N, T77N	Usher syndrome type 1D, Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23, not provided	Uncertain significance (Jul 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 105279465.	NM_033056.4(PCDH15):c.5210C>T (p.Pro1737Leu) GRCh37: Chr10:55582276 GRCh38: Chr10:53822516	PCDH15	P1668L, P1697L, P1714L, P1715L, P1717L, P1734L, P1737L, P1739L, P1744L	not provided	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 105236666.	NM_001384140.1(PCDH15):c.4308GCC[4] (p.Pro1443del) GRCh37: Chr10:55587198-55587200 GRCh38: Chr10:53827438-53827440	PCDH15	P1372del, P1403del, P1418del, P1421del, P1440del, P1443del, P1448del, P1450del, P1455del	not provided	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 105206867.	NM_001384140.1(PCDH15):c.2128G>A (p.Val710Ile) GRCh37: Chr10:55826609 GRCh38: Chr10:54066849	PCDH15	V639I, V673I, V688I, V710I, V715I, V717I, V722I	not provided	Uncertain significance (Oct 3, 2022)	criteria provided, single submitter
Select item 105088268.	NM_001384140.1(PCDH15):c.2987A>G (p.Glu996Gly) GRCh37: Chr10:55721534 GRCh38: Chr10:53961774	PCDH15	E1001G, E1003G, E1008G, E925G, E959G, E974G, E996G	not provided	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 105059369.	NM_001384140.1(PCDH15):c.4712A>C (p.Glu1571Ala) GRCh37: Chr10:55566850 GRCh38: Chr10:53807090	PCDH15	E1506A, E1508A, E1513A, E1549A, E1571A	Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1D, Usher syndrome type 1F	Uncertain significance (Feb 16, 2022)	criteria provided, single submitter
Select item 104659270.	NM_001384140.1(PCDH15):c.2636G>A (p.Ser879Asn) GRCh37: Chr10:55780067 GRCh38: Chr10:54020307	PCDH15	S857N, S891N, S842N, S879N, S884N, S808N, S886N	not provided	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 104625171.	NM_033056.4(PCDH15):c.5690C>G (p.Ala1897Gly) GRCh37: Chr10:55581796 GRCh38: Chr10:53822036	PCDH15	A1828G, A1904G, A1874G, A1857G, A1875G, A1877G, A1894G, A1897G, A1899G	not provided	Uncertain significance (Feb 23, 2022)	criteria provided, single submitter
Select item 104613072.	NM_001384140.1(PCDH15):c.2673T>G (p.Ser891Arg) GRCh37: Chr10:55780030 GRCh38: Chr10:54020270	PCDH15	S854R, S896R, S820R, S869R, S891R, S898R, S903R	not provided	Uncertain significance (Feb 24, 2022)	criteria provided, single submitter
Select item 104542973.	NM_033056.4(PCDH15):c.5711A>G (p.Glu1904Gly) GRCh37: Chr10:55581775 GRCh38: Chr10:53822015	PCDH15	E1882G, E1835G, E1881G, E1884G, E1901G, E1911G, E1864G, E1904G, E1906G	not provided	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 104402174.	NM_033056.4(PCDH15):c.4654T>C (p.Phe1552Leu) GRCh37: Chr10:55582832 GRCh38: Chr10:53823072	PCDH15	F1530L, F1552L, F1483L, F1532L, F1549L, F1512L, F1529L, F1554L, F1559L	not provided	Uncertain significance (Feb 3, 2022)	criteria provided, single submitter
Select item 104210775.	NM_001384140.1(PCDH15):c.1730G>A (p.Arg577Gln) GRCh37: Chr10:55912914 GRCh38: Chr10:54153154	PCDH15	R582Q, R584Q, R540Q, R589Q, R555Q, R577Q	not provided	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 104197776.	NM_001384140.1(PCDH15):c.4330G>C (p.Gly1444Arg) GRCh37: Chr10:55587190 GRCh38: Chr10:53827430	PCDH15	G1404R, G1422R, G1441R, G1456R, G1373R, G1419R, G1444R, G1449R, G1451R	not provided	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 104187377.	NM_033056.4(PCDH15):c.4728_4736dup (p.Val1578_Ser1579insArgSerVal) GRCh37: Chr10:55582749-55582750 GRCh38: Chr10:53822989-53822990	PCDH15		not provided	Uncertain significance (Mar 22, 2022)	criteria provided, single submitter
Select item 104125778.	NM_033056.4(PCDH15):c.5683T>C (p.Ser1895Pro) GRCh37: Chr10:55581803 GRCh38: Chr10:53822043	PCDH15	S1872P, S1873P, S1875P, S1902P, S1826P, S1895P, S1897P, S1855P, S1892P	not provided	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 103954679.	NM_033056.4(PCDH15):c.5272_5280del (p.Pro1758_Pro1760del) GRCh37: Chr10:55582206-55582214 GRCh38: Chr10:53822446-53822454	PCDH15		not provided	Likely benign (May 15, 2022)	criteria provided, single submitter
Select item 103894380.	NM_001384140.1(PCDH15):c.3821A>G (p.Tyr1274Cys) GRCh37: Chr10:55600242 GRCh38: Chr10:53840482	PCDH15	Y1286C, Y1203C, Y1237C, Y1279C, Y1281C, Y1252C, Y1274C	not provided	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 103627781.	NM_001384140.1(PCDH15):c.1099G>T (p.Ala367Ser) GRCh37: Chr10:55955649 GRCh38: Chr10:54195889	PCDH15	A345S, A330S, A367S, A372S	not provided	Uncertain significance (Aug 17, 2022)	criteria provided, single submitter
Select item 102756582.	NM_001384140.1(PCDH15):c.3667_3668del (p.Ile1223fs) GRCh37: Chr10:55626451-55626452 GRCh38: Chr10:53866691-53866692	PCDH15	I1152fs, I1186fs, I1201fs, I1223fs, I1228fs, I1230fs, I1235fs	Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1D, Usher syndrome type 1F	Pathogenic (Oct 1, 2020)	no assertion criteria provided
Select item 102125183.	NM_001384140.1(PCDH15):c.2978A>G (p.Asn993Ser) GRCh37: Chr10:55721543 GRCh38: Chr10:53961783	PCDH15	N1000S, N1005S, N922S, N956S, N971S, N993S, N998S	not provided	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 101745684.	NM_033056.4(PCDH15):c.5275_5286del (p.Pro1759_Pro1762del) GRCh37: Chr10:55582200-55582211 GRCh38: Chr10:53822440-53822451	PCDH15		not provided	Likely benign (Oct 29, 2022)	criteria provided, single submitter
Select item 101621585.	NM_001384140.1(PCDH15):c.1228G>T (p.Val410Leu) GRCh37: Chr10:55955520 GRCh38: Chr10:54195760	PCDH15	V373L, V388L, V410L, V415L	not provided	Uncertain significance (Mar 9, 2022)	criteria provided, single submitter
Select item 101398786.	NM_001384140.1(PCDH15):c.3100C>T (p.Arg1034Cys) GRCh37: Chr10:55719514 GRCh38: Chr10:53959754	PCDH15	R1012C, R1034C, R1039C, R1041C, R1046C, R963C, R997C	not provided	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 101109287.	NM_001384140.1(PCDH15):c.2868+5G>A GRCh37: Chr10:55755404 GRCh38: Chr10:53995644	PCDH15	S958N	Usher syndrome type 1D, Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23, not provided, Usher syndrome type 1F	Uncertain significance (Jan 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 101014588.	NM_001384140.1(PCDH15):c.2386G>A (p.Val796Ile) GRCh37: Chr10:55782792 GRCh38: Chr10:54023032	PCDH15	V725I, V759I, V774I, V796I, V801I, V803I, V808I	not provided	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 100902289.	NM_001384140.1(PCDH15):c.2751+8C>T GRCh37: Chr10:55779944 GRCh38: Chr10:54020184	PCDH15		not provided	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 100848190.	NM_033056.4(PCDH15):c.5077_5079del (p.Pro1693del) GRCh37: Chr10:55582407-55582409 GRCh38: Chr10:53822647-53822649	PCDH15	P1624del, P1653del, P1670del, P1671del, P1673del, P1690del, P1693del, P1695del, P1700del	not provided	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 100536791.	NM_001384140.1(PCDH15):c.200G>A (p.Gly67Glu) GRCh37: Chr10:56138660 GRCh38: Chr10:54378900	PCDH15	G45E, G67E, G72E	not provided	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 100442292.	NM_033056.4(PCDH15):c.5717dup (p.Asn1906fs) GRCh37: Chr10:55581768-55581769 GRCh38: Chr10:53822008-53822009	PCDH15	N1837fs, N1866fs, N1883fs, N1884fs, N1886fs, N1903fs, N1906fs, N1908fs, N1913fs	not provided	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 100300093.	NM_001384140.1(PCDH15):c.1522A>G (p.Thr508Ala) GRCh37: Chr10:55943272 GRCh38: Chr10:54183512	PCDH15	T471A, T486A, T508A, T513A, T515A, T520A	not provided	Uncertain significance (Apr 16, 2022)	criteria provided, single submitter
Select item 100290294.	NM_001384140.1(PCDH15):c.1970C>T (p.Pro657Leu) GRCh37: Chr10:55849771 GRCh38: Chr10:54090011	PCDH15	P620L, P635L, P657L, P662L, P664L, P669L	not provided	Uncertain significance (Feb 3, 2022)	criteria provided, single submitter
Select item 100283495.	NM_001384140.1(PCDH15):c.3154G>C (p.Gly1052Arg) GRCh37: Chr10:55700704 GRCh38: Chr10:53940944	PCDH15	G1015R, G1030R, G1052R, G1057R, G1059R, G1064R, G981R	not provided, Usher syndrome type 1D, Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23	Uncertain significance (Feb 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 100211496.	NM_001384140.1(PCDH15):c.2810C>T (p.Pro937Leu) GRCh37: Chr10:55755467 GRCh38: Chr10:53995707	PCDH15	P866L, P900L, P915L, P937L, P942L, P944L, P949L	not provided	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 100025697.	NM_001384140.1(PCDH15):c.2441A>G (p.Asp814Gly) GRCh37: Chr10:55782737 GRCh38: Chr10:54022977	PCDH15	D743G, D777G, D792G, D814G, D819G, D821G, D826G	not provided	Uncertain significance (Jun 20, 2022)	criteria provided, single submitter
Select item 99969998.	NM_033056.4(PCDH15):c.5179G>A (p.Glu1727Lys) GRCh37: Chr10:55582307 GRCh38: Chr10:53822547	PCDH15	E1658K, E1687K, E1704K, E1705K, E1707K, E1724K, E1727K, E1729K, E1734K	Inborn genetic diseases, not provided	Conflicting interpretations of pathogenicity (Mar 27, 2023)	criteria provided, conflicting interpretations
Select item 99384299.	NM_001384140.1(PCDH15):c.4367T>C (p.Ile1456Thr) GRCh37: Chr10:55587153 GRCh38: Chr10:53827393	PCDH15	I1416T, I1434T, I1453T, I1456T, M1385T, M1431T, M1434T, M1456T, M1461T, M1463T, M1468T	not provided	Uncertain significance (Jun 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 990896100.	NM_001384140.1(PCDH15):c.705T>C (p.Asn235=) GRCh37: Chr10:56089356 GRCh38: Chr10:54329596	PCDH15		not provided	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter

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