C1865885[trait identifier] AND "Counsyl"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 553631	NM_001384140.1(PCDH15):c.5215A>T (p.Lys1739Ter)	PCDH15 (K1681* +4 more)	Single nucleotide variant (nonsense)	Usher syndrome type 1D +2 more	GUncertain significance
Select item 557584	NM_001384140.1(PCDH15):c.5160TGA[2] (p.Asp1722del)	PCDH15 (D1659del +4 more)	Microsatellite (inframe_deletion)	Usher syndrome type 1F	GUncertain significance
Select item 558279	NM_001384140.1(PCDH15):c.5108_5111dup (p.Ser1704fs)	PCDH15 (S1641fs +4 more)	Duplication (frameshift variant)	Usher syndrome type 1F	GUncertain significance
Select item 557802	NM_001384140.1(PCDH15):c.5106_5109dup (p.Ser1704Ter)	PCDH15 (S1639* +4 more)	Duplication (nonsense)	Usher syndrome type 1F	GUncertain significance
Select item 549878	NM_001384140.1(PCDH15):c.5092C>T (p.Gln1698Ter)	PCDH15 (Q1640* +4 more)	Single nucleotide variant (nonsense)	Usher syndrome type 1F	GUncertain significance
Select item 554897	NM_001384140.1(PCDH15):c.5082_5089del (p.Ser1694fs)	PCDH15 (S1631fs +4 more)	Deletion (frameshift variant)	Usher syndrome type 1F	GUncertain significance
Select item 550325	NM_001384140.1(PCDH15):c.5084_5085del (p.Thr1695fs)	PCDH15 (T1673fs +4 more)	Microsatellite (frameshift variant)	Usher syndrome type 1F	GUncertain significance
Select item 554592	NM_001384140.1(PCDH15):c.5054T>C (p.Val1685Ala)	PCDH15 (V1627A +4 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1F	GUncertain significance
Select item 549881	NM_001384140.1(PCDH15):c.5043_5045dup (p.Asn1682dup)	PCDH15	Duplication (inframe_insertion)	Usher syndrome type 1F	GUncertain significance
Select item 549880	NM_001384140.1(PCDH15):c.4988_4991dup (p.Met1664fs)	PCDH15 (M1599fs +4 more)	Duplication (frameshift variant)	Usher syndrome type 1F	GUncertain significance
Select item 549870	NM_001384140.1(PCDH15):c.4914del (p.Asp1639fs)	PCDH15 (D1576fs +4 more)	Deletion (frameshift variant)	Usher syndrome type 1F	GUncertain significance
Select item 553628	NM_001384140.1(PCDH15):c.4866_4869dup (p.Lys1624fs)	PCDH15 (K1559fs +4 more)	Duplication (frameshift variant)	Usher syndrome type 1F	GUncertain significance
Select item 549873	NM_001384140.1(PCDH15):c.4828_4835del (p.Ser1610fs)	PCDH15 (S1552fs +4 more)	Deletion (frameshift variant)	Usher syndrome type 1F	GUncertain significance
Select item 550350	NM_001384140.1(PCDH15):c.4739_4742dup (p.Ser1581fs)	PCDH15 (S1518fs +4 more)	Duplication (frameshift variant)	Usher syndrome type 1F	GUncertain significance
Select item 556474	NM_001384140.1(PCDH15):c.4729_4734dup (p.Thr1577_Gly1578dup)	PCDH15	Duplication (inframe_insertion)	Usher syndrome type 1F	GUncertain significance
Select item 557607	NM_001384140.1(PCDH15):c.4722del (p.Ser1575fs)	PCDH15 (S1510fs +4 more)	Deletion (frameshift variant)	Usher syndrome type 1F	GUncertain significance
Select item 552182	NM_001384140.1(PCDH15):c.4708C>T (p.Arg1570Ter)	PCDH15 (R1512* +4 more)	Single nucleotide variant (nonsense)	Usher syndrome type 1D +2 more	GUncertain significance
Select item 554690	NM_001384140.1(PCDH15):c.4688_4691dup (p.Lys1565fs)	PCDH15 (K1502fs +4 more)	Duplication (frameshift variant)	Usher syndrome type 1F	GUncertain significance
Select item 554603	NM_001384140.1(PCDH15):c.4672-2A>G	PCDH15	Single nucleotide variant (splice acceptor variant)	Usher syndrome type 1F	GUncertain significance
Select item 558309	NM_001384140.1(PCDH15):c.4672-1648_4672-1644dup	PCDH15 (P1765fs +1 more)	Duplication (frameshift variant +2 more)	Usher syndrome type 1F	GUncertain significance
Select item 557847	NM_001384140.1(PCDH15):c.4672-1662del	PCDH15 (G1751fs +1 more)	Deletion (frameshift variant +2 more)	Usher syndrome type 1F	GUncertain significance
Select item 549874	NM_001384140.1(PCDH15):c.4672-1666G>T	PCDH15 (G1757* +1 more)	Single nucleotide variant (nonsense +2 more)	Usher syndrome type 1F	GUncertain significance
Select item 557693	NM_001384140.1(PCDH15):c.4672-1709_4672-1706dup	PCDH15 (E1744fs +1 more)	Duplication (frameshift variant +2 more)	Usher syndrome type 1F	GUncertain significance
Select item 556076	NM_001384140.1(PCDH15):c.4671+1708_4671+1711dup	PCDH15 (E1734* +1 more)	Duplication (nonsense +2 more)	Usher syndrome type 1F	GUncertain significance
Select item 552177	NM_001384140.1(PCDH15):c.4671+1617_4671+1637del	PCDH15	Deletion (3 prime UTR variant +1 more)	Usher syndrome type 1F	GUncertain significance
Select item 553859	NM_001384140.1(PCDH15):c.4671+1577GAA[3]	PCDH15 (E1692del +1 more)	Microsatellite (3 prime UTR variant +1 more)	Usher syndrome type 1F	GUncertain significance
Select item 553502	NM_001384140.1(PCDH15):c.4671+1559C>T	PCDH15 (Q1690* +1 more)	Single nucleotide variant (nonsense +2 more)	not specified +1 more	GUncertain significance
Select item 553230	NM_001384140.1(PCDH15):c.4671+1550C>T	PCDH15 (Q1687* +1 more)	Single nucleotide variant (nonsense +2 more)	Usher syndrome type 1F	GUncertain significance
Select item 557953	NM_001384140.1(PCDH15):c.4671+1523G>T	PCDH15 (E1678* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GUncertain significance
Select item 557713	NM_001384140.1(PCDH15):c.4671+1511_4671+1519del	PCDH15	Deletion (inframe_deletion +2 more)	Usher syndrome type 1F	GUncertain significance
Select item 552736	NM_001384140.1(PCDH15):c.4671+1420del	PCDH15 (T1644fs +1 more)	Deletion (frameshift variant +2 more)	Usher syndrome type 1D +2 more	GUncertain significance
Select item 549865	NM_001384140.1(PCDH15):c.4671+1403GAG[5]	PCDH15	Microsatellite (inframe_insertion +2 more)	Usher syndrome type 1F	GUncertain significance
Select item 549868	NM_001384140.1(PCDH15):c.4671+1412G>T	PCDH15 (E1641* +1 more)	Single nucleotide variant (nonsense +2 more)	Usher syndrome type 1F	GUncertain significance
Select item 552570	NM_001384140.1(PCDH15):c.4671+1355_4671+1359dup	PCDH15 (S1624fs +1 more)	Duplication (frameshift variant +2 more)	Usher syndrome type 1F	GUncertain significance
Select item 549879	NM_001384140.1(PCDH15):c.4671+1297_4671+1300dup	PCDH15 (E1597fs +1 more)	Duplication (frameshift variant +2 more)	Usher syndrome type 1F	GUncertain significance
Select item 556903	NM_001384140.1(PCDH15):c.4671+1257_4671+1258del	PCDH15 (L1582fs +1 more)	Deletion (frameshift variant +2 more)	Usher syndrome type 1F	GUncertain significance
Select item 552343	NM_001384140.1(PCDH15):c.4671+1077_4671+1082del	PCDH15	Deletion (inframe_indel +2 more)	Usher syndrome type 1F	GUncertain significance
Select item 558151	NM_001384140.1(PCDH15):c.4671+1009G>A	PCDH15	Single nucleotide variant (intron variant +1 more)	Usher syndrome type 1F	GUncertain significance
Select item 558696	NM_001384140.1(PCDH15):c.4645_4656del (p.Ala1549_Glu1552del)	PCDH15	Deletion (inframe_deletion)	Usher syndrome type 1F	GUncertain significance
Select item 558469	NM_001384140.1(PCDH15):c.4618G>T (p.Glu1540Ter)	PCDH15 (E1489* +6 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GUncertain significance
Select item 558457	NM_001384140.1(PCDH15):c.4607C>T (p.Pro1536Leu)	PCDH15 (P1485L +6 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1F	GUncertain significance
Select item 558694	NM_001384140.1(PCDH15):c.4603C>A (p.Pro1535Thr)	PCDH15 (P1484T +6 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1F	GUncertain significance
Select item 552613	NM_001384140.1(PCDH15):c.4504G>A (p.Glu1502Lys)	PCDH15 (E1480K +2 more)	Single nucleotide variant (nonsense +2 more)	Usher syndrome type 1F	GUncertain significance
Select item 554936	NM_033056.4(PCDH15):c.5863del (p.Leu1955fs)	PCDH15 (L1886fs +8 more)	Deletion (frameshift variant +1 more)	Usher syndrome type 1F	GUncertain significance
Select item 554530	NM_033056.4(PCDH15):c.5849_5852dup (p.Thr1953fs)	PCDH15 (T1960fs +8 more)	Duplication (frameshift variant +1 more)	Usher syndrome type 1F +1 more	GUncertain significance
Select item 557057	NM_033056.4(PCDH15):c.5838_5841del (p.Lys1946fs)	PCDH15 (K1923fs +8 more)	Deletion (frameshift variant +1 more)	Usher syndrome type 1F	GUncertain significance
Select item 554605	NM_033056.4(PCDH15):c.5818_5820dup (p.Ile1940dup)	PCDH15	Duplication (inframe_insertion +1 more)	not specified +2 more	GUncertain significance
Select item 550181	NM_033056.4(PCDH15):c.5798_5816dup (p.Asn1939fs)	PCDH15 (N1899fs +8 more)	Duplication (frameshift variant +1 more)	Usher syndrome type 1F	GUncertain significance
Select item 553022	NM_033056.4(PCDH15):c.5806_5807del (p.Ser1936fs)	PCDH15 (S1938fs +8 more)	Deletion (frameshift variant +1 more)	Usher syndrome type 1F	GUncertain significance
Select item 556389	NM_033056.4(PCDH15):c.5806del (p.Ser1936fs)	PCDH15 (S1938fs +8 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 554120	NM_033056.4(PCDH15):c.5743_5766del (p.Leu1915_Glu1922del)	PCDH15	Deletion (intron variant +1 more)	Usher syndrome type 1F	GUncertain significance
Select item 557370	NM_033056.4(PCDH15):c.5753del (p.Met1918fs)	PCDH15 (M1896fs +8 more)	Deletion (frameshift variant +1 more)	Usher syndrome type 1F	GUncertain significance
Select item 46508	NM_033056.4(PCDH15):c.5726G>A (p.Arg1909His)	PCDH15 (R1909H +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 557346	NM_033056.4(PCDH15):c.5721_5724dup (p.Arg1909fs)	PCDH15 (R1887fs +8 more)	Duplication (frameshift variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 558251	NM_033056.4(PCDH15):c.5713A>T (p.Lys1905Ter)	PCDH15 (K1905* +8 more)	Single nucleotide variant (nonsense +1 more)	Usher syndrome type 1F	GUncertain significance
Select item 551940	NM_033056.4(PCDH15):c.5710_5711del (p.Glu1904fs)	PCDH15 (E1835fs +8 more)	Deletion (frameshift variant +1 more)	Usher syndrome type 1F	GUncertain significance
Select item 557230	NM_033056.4(PCDH15):c.5702_5705dup (p.Ile1903fs)	PCDH15 (I1881fs +8 more)	Duplication (frameshift variant +1 more)	Usher syndrome type 1F	GUncertain significance
Select item 553725	NM_033056.4(PCDH15):c.5684C>G (p.Ser1895Ter)	PCDH15 (S1895* +8 more)	Single nucleotide variant (nonsense +1 more)	Usher syndrome type 1F	GUncertain significance
Select item 555681	NM_033056.4(PCDH15):c.5682dup (p.Ser1895fs)	PCDH15 (S1873fs +8 more)	Duplication (frameshift variant +1 more)	Usher syndrome type 1F	GConflicting classifications of pathogenicity
Select item 552561	NM_033056.4(PCDH15):c.5632_5633del (p.Glu1878fs)	PCDH15 (E1809fs +8 more)	Microsatellite (frameshift variant +1 more)	Usher syndrome type 1F	GUncertain significance
Select item 557450	NM_033056.4(PCDH15):c.5626C>T (p.Gln1876Ter)	PCDH15 (Q1876* +8 more)	Single nucleotide variant (nonsense +1 more)	Usher syndrome type 1F +1 more	GConflicting classifications of pathogenicity
Select item 553697	NM_033056.4(PCDH15):c.5619_5623dup (p.Pro1875fs)	PCDH15 (P1835fs +8 more)	Duplication (frameshift variant +1 more)	Usher syndrome type 1F	GUncertain significance
Select item 554645	NM_033056.4(PCDH15):c.5617dup (p.Thr1873fs)	PCDH15 (T1853fs +8 more)	Duplication (frameshift variant +1 more)	Usher syndrome type 1F	GUncertain significance
Select item 555928	NM_001384140.1(PCDH15):c.4368-1896_4368-1893delinsT	PCDH15	Indel (inframe_indel +1 more)	Usher syndrome type 1F	GUncertain significance
Select item 558695	NM_033056.4(PCDH15):c.5566G>T (p.Glu1856Ter)	PCDH15 (E1856* +8 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 236520	NM_033056.4(PCDH15):c.5565C>A (p.Ala1855=)	PCDH15	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 554220	NM_033056.4(PCDH15):c.5520dup (p.Val1841fs)	PCDH15 (V1801fs +8 more)	Duplication (frameshift variant +1 more)	Usher syndrome type 1D +2 more	GUncertain significance
Select item 551297	NM_033056.4(PCDH15):c.5513_5514del (p.Thr1838fs)	PCDH15 (T1840fs +8 more)	Microsatellite (frameshift variant +1 more)	Usher syndrome type 1F +1 more	GConflicting classifications of pathogenicity
Select item 550804	NM_033056.4(PCDH15):c.5472_5495del (p.Ile1825_Ser1832del)	PCDH15	Deletion (inframe_deletion +1 more)	Usher syndrome type 1F +1 more	GUncertain significance
Select item 557796	NM_033056.4(PCDH15):c.5463_5489del (p.Pro1823_Pro1831del)	PCDH15	Deletion (inframe_deletion +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 551119	NM_033056.4(PCDH15):c.5445_5456del (p.Thr1816_Pro1819del)	PCDH15	Deletion (inframe_deletion +1 more)	Usher syndrome type 1F	GUncertain significance
Select item 550944	NM_033056.4(PCDH15):c.5430_5438del (p.Leu1811_Pro1813del)	PCDH15	Deletion (inframe_deletion +1 more)	Usher syndrome type 1F	GUncertain significance
Select item 46499	NM_033056.4(PCDH15):c.5398G>A (p.Val1800Ile)	PCDH15 (V1800I +8 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1F +5 more	GBenign/Likely benign
Select item 555422	NM_033056.4(PCDH15):c.5388dup (p.Pro1797fs)	PCDH15 (P1728fs +8 more)	Duplication (frameshift variant +1 more)	Usher syndrome type 1F	GUncertain significance
Select item 549992	NM_033056.4(PCDH15):c.5361_5376del (p.Pro1789fs)	PCDH15 (P1769fs +8 more)	Deletion (frameshift variant +1 more)	Usher syndrome type 1F	GUncertain significance
Select item 555887	NM_033056.4(PCDH15):c.5363TTCCTC[3] (p.1788LP[3])	PCDH15	Microsatellite (inframe_insertion +1 more)	Usher syndrome type 1F	GUncertain significance
Select item 236519	NM_033056.4(PCDH15):c.5364_5373del (p.Pro1789fs)	PCDH15 (P1720fs +8 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 556755	NM_033056.4(PCDH15):c.5355_5365del (p.Ile1786fs)	PCDH15 (I1717fs +8 more)	Deletion (intron variant +1 more)	Usher syndrome type 1F +1 more	GConflicting classifications of pathogenicity
Select item 555843	NM_033056.4(PCDH15):c.5347_5363del (p.Pro1783fs)	PCDH15 (P1761fs +8 more)	Deletion (frameshift variant +1 more)	Usher syndrome type 1F +2 more	GConflicting classifications of pathogenicity
Select item 550512	NM_033056.4(PCDH15):c.5349_5359del (p.Pro1784fs)	PCDH15 (P1784fs +8 more)	Deletion (frameshift variant +1 more)	Usher syndrome type 1F	GUncertain significance
Select item 46498	NM_033056.4(PCDH15):c.5359C>T (p.Pro1787Ser)	PCDH15 (P1787S +8 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1F +3 more	GBenign/Likely benign
Select item 552437	NM_033056.4(PCDH15):c.5357dup (p.Leu1788fs)	PCDH15 (L1719fs +8 more)	Duplication (frameshift variant +1 more)	Usher syndrome type 1F	GUncertain significance
Select item 556067	NM_033056.4(PCDH15):c.5343del (p.Ser1782fs)	PCDH15 (S1742fs +8 more)	Deletion (frameshift variant +1 more)	Usher syndrome type 1F +1 more	GUncertain significance
Select item 553471	NM_033056.4(PCDH15):c.5336del (p.Pro1779fs)	PCDH15 (P1757fs +8 more)	Deletion (frameshift variant +1 more)	Usher syndrome type 1F	GUncertain significance
Select item 553355	NM_033056.4(PCDH15):c.5332dup (p.Cys1778fs)	PCDH15 (C1756fs +8 more)	Duplication (frameshift variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 556252	NM_033056.4(PCDH15):c.5266_5319del (p.Pro1756_Pro1773del)	PCDH15	Deletion (inframe_deletion +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 554727	NM_033056.4(PCDH15):c.5317_5319del (p.Pro1773del)	PCDH15 (P1773del +8 more)	Deletion (inframe_deletion +1 more)	Usher syndrome type 1F	GUncertain significance
Select item 558531	NM_033056.4(PCDH15):c.5308_5310del (p.Asp1770del)	PCDH15 (D1770del +8 more)	Deletion (inframe_deletion +1 more)	Usher syndrome type 1F	GUncertain significance
Select item 555039	NM_033056.4(PCDH15):c.5296_5304del (p.Ala1766_Pro1768del)	PCDH15	Deletion (inframe_deletion +1 more)	Usher syndrome type 1F	GUncertain significance
Select item 549928	NM_033056.4(PCDH15):c.5294_5302dup (p.Leu1765_Pro1767dup)	PCDH15	Duplication (inframe_insertion +1 more)	Usher syndrome type 1F	GUncertain significance
Select item 555119	NM_033056.4(PCDH15):c.5269_5295del (p.Ser1757_Leu1765del)	PCDH15	Deletion (inframe_deletion +1 more)	Usher syndrome type 1F	GUncertain significance
Select item 421481	NM_033056.4(PCDH15):c.5278_5286del (p.Pro1760_Pro1762del)	PCDH15	Deletion (inframe_deletion +1 more)	Usher syndrome type 1F +2 more	GLikely benign
Select item 557418	NM_033056.4(PCDH15):c.5272CCT[4] (p.Pro1760dup)	PCDH15	Microsatellite (inframe_insertion +1 more)	Usher syndrome type 1F	GUncertain significance
Select item 551471	NM_033056.4(PCDH15):c.5272CCT[1] (p.Pro1759_Pro1760del)	PCDH15	Microsatellite (inframe_deletion +1 more)	Usher syndrome type 1F +1 more	GConflicting classifications of pathogenicity
Select item 558702	NM_033056.4(PCDH15):c.5274_5278del (p.Pro1759fs)	PCDH15 (P1690fs +8 more)	Deletion (frameshift variant +1 more)	Usher syndrome type 1F	GUncertain significance
Select item 551524	NM_033056.4(PCDH15):c.5257_5277del (p.Ile1753_Pro1759del)	PCDH15	Deletion (inframe_deletion +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 552978	NM_033056.4(PCDH15):c.5257_5268dup (p.Ile1753_Pro1756dup)	PCDH15	Duplication (inframe_insertion +1 more)	Usher syndrome type 1F	GUncertain significance
Select item 555183	NM_033056.4(PCDH15):c.5257_5262del (p.Ile1753_Ser1754del)	PCDH15	Deletion (inframe_deletion +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 554022	NM_033056.4(PCDH15):c.5252_5259del (p.Pro1751fs)	PCDH15 (P1728fs +8 more)	Deletion (frameshift variant +1 more)	Usher syndrome type 1F	GUncertain significance
Select item 554493	NM_033056.4(PCDH15):c.5193dup (p.Glu1732Ter)	PCDH15 (E1729* +8 more)	Duplication (nonsense +1 more)	Usher syndrome type 1F	GUncertain significance

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