"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "PCDH15" - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 284406	NM_001384140.1(PCDH15):c.4672-1564T>C	PCDH15	Single nucleotide variant (stop lost +2 more)	Usher syndrome type 1D +1 more	GConflicting classifications of pathogenicity
Select item 765177	NM_001384140.1(PCDH15):c.4672-1577C>T	PCDH15	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 44037	NM_001384140.1(PCDH15):c.4672-1637G>A	PCDH15	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GBenign/Likely benign
Select item 227000	NM_001384140.1(PCDH15):c.4672-1640A>G	PCDH15	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive nonsyndromic hearing loss 23 +4 more	GBenign/Likely benign
Select item 2140745	NM_001384140.1(PCDH15):c.4672-1672C>T	PCDH15 (Q1748* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided	GUncertain significance
Select item 44036	NM_001384140.1(PCDH15):c.4672-1699G>A	PCDH15 (G1746S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign
Select item 715737	NM_001384140.1(PCDH15):c.4671+1643G>A	PCDH15 (E1718K +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1144807	NM_001384140.1(PCDH15):c.4671+1624G>A	PCDH15	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2064111	NM_001384140.1(PCDH15):c.4671+1552A>G	PCDH15	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 741329	NM_001384140.1(PCDH15):c.4671+1440C>T	PCDH15 (S1643L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 504714	NM_001384140.1(PCDH15):c.4671+1438A>C	PCDH15 (E1649D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GBenign/Likely benign
Select item 765220	NM_001384140.1(PCDH15):c.4671+1396A>G	PCDH15	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 44035	NM_001384140.1(PCDH15):c.4671+1344A>C	PCDH15 (E1618A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GBenign
Select item 792791	NM_001384140.1(PCDH15):c.4671+1327T>C	PCDH15	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 754422	NM_001384140.1(PCDH15):c.4671+1192C>T	PCDH15	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 44033	NM_001384140.1(PCDH15):c.4671+1114A>C	PCDH15	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GBenign
Select item 178516	NM_001384140.1(PCDH15):c.4671+1087C>T	PCDH15	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 763900	NM_001384140.1(PCDH15):c.4671+1067G>A	PCDH15 (E1526K +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 178678	NM_001384140.1(PCDH15):c.4671+1053A>C	PCDH15 (E1521A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 44032	NM_001384140.1(PCDH15):c.4671+1046A>G	PCDH15 (I1519V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 285111	NM_001384140.1(PCDH15):c.4651GAA[1] (p.Glu1552del)	PCDH15 (E1501del +6 more)	Microsatellite (inframe_deletion)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1160148	NM_001384140.1(PCDH15):c.4644A>G (p.Glu1548=)	PCDH15 (K1509R)	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 227001	NM_001384140.1(PCDH15):c.4640G>A (p.Gly1547Asp)	PCDH15 (V1508M +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 794050	NM_001384140.1(PCDH15):c.4626T>C (p.Tyr1542=)	PCDH15 (M1503T)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 773797	NM_001384140.1(PCDH15):c.4589G>A (p.Arg1530His)	PCDH15 (R1465H +6 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1358551	NM_033056.4(PCDH15):c.5866T>G (p.Ter1956Glu)	PCDH15	Single nucleotide variant (stop lost +1 more)	not provided	GUncertain significance
Select item 2838786	NM_033056.4(PCDH15):c.5865G>A (p.Leu1955=)	PCDH15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1122538	NM_033056.4(PCDH15):c.5865G>C (p.Leu1955=)	PCDH15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 300165	NM_033056.4(PCDH15):c.5864T>C (p.Leu1955Pro)	PCDH15 (L1955P +8 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1 +2 more	GUncertain significance
Select item 752517	NM_033056.4(PCDH15):c.5862A>G (p.Ser1954=)	PCDH15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2717063	NM_033056.4(PCDH15):c.5859T>C (p.Thr1953=)	PCDH15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1124961	NM_033056.4(PCDH15):c.5856T>G (p.Ser1952=)	PCDH15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2161399	NM_033056.4(PCDH15):c.5854T>C (p.Ser1952Pro)	PCDH15 (S1883P +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1094489	NM_033056.4(PCDH15):c.5853A>G (p.Gln1951=)	PCDH15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 855174	NM_033056.4(PCDH15):c.5849_5852del (p.Ser1950fs)	PCDH15 (S1928fs +8 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2414326	NM_033056.4(PCDH15):c.5850T>A (p.Ser1950Arg)	PCDH15 (S1881R +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2111257	NM_033056.4(PCDH15):c.5849G>C (p.Ser1950Thr)	PCDH15 (S1910T +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1576753	NM_033056.4(PCDH15):c.5847C>T (p.His1949=)	PCDH15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2111453	NM_033056.4(PCDH15):c.5843C>G (p.Ser1948Cys)	PCDH15 (S1950C +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 811898	NM_033056.4(PCDH15):c.5839C>T (p.Gln1947Ter)	PCDH15 (Q1878* +8 more)	Single nucleotide variant (nonsense +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2072889	NM_033056.4(PCDH15):c.5835A>G (p.Glu1945=)	PCDH15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1563683	NM_033056.4(PCDH15):c.5832T>C (p.Thr1944=)	PCDH15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1923887	NM_033056.4(PCDH15):c.5831C>A (p.Thr1944Asn)	PCDH15 (T1875N +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2766664	NM_033056.4(PCDH15):c.5827G>T (p.Gly1943Ter)	PCDH15 (G1903* +8 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely benign
Select item 2161297	NM_033056.4(PCDH15):c.5827G>A (p.Gly1943Arg)	PCDH15 (G1921R +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1439170	NM_033056.4(PCDH15):c.5826G>A (p.Glu1942=)	PCDH15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 877280	NM_033056.4(PCDH15):c.5824G>A (p.Glu1942Lys)	PCDH15 (E1919K +8 more)	Single nucleotide variant (missense variant +1 more)	Usher syndrome type 1 +1 more	GUncertain significance
Select item 2856704	NM_033056.4(PCDH15):c.5823C>G (p.Val1941=)	PCDH15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1158127	NM_033056.4(PCDH15):c.5823C>T (p.Val1941=)	PCDH15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1988359	NM_033056.4(PCDH15):c.5821G>A (p.Val1941Ile)	PCDH15 (V1872I +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 554605	NM_033056.4(PCDH15):c.5818_5820dup (p.Ile1940dup)	PCDH15	Duplication (inframe_insertion +1 more)	Usher syndrome type 1F +2 more	GUncertain significance
Select item 937158	NM_033056.4(PCDH15):c.5816A>T (p.Asn1939Ile)	PCDH15 (N1936I +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2858461	NM_033056.4(PCDH15):c.5814C>T (p.Asn1938=)	PCDH15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2050556	NM_033056.4(PCDH15):c.5806_5809dup (p.Leu1937Ter)	PCDH15 (L1914* +8 more)	Duplication (nonsense +1 more)	not provided	GLikely benign
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 167424	NM_033056.4(PCDH15):c.5805G>T (p.Gly1935=)	PCDH15	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2806057	NM_033056.4(PCDH15):c.5798dup (p.Asn1933fs)	PCDH15 (N1893fs +8 more)	Duplication (frameshift variant +1 more)	not provided	GLikely benign
Select item 1450671	NM_033056.4(PCDH15):c.5799C>G (p.Asn1933Lys)	PCDH15 (N1910K +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1497147	NM_033056.4(PCDH15):c.5798A>G (p.Asn1933Ser)	PCDH15 (N1893S +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1664738	NM_033056.4(PCDH15):c.5767_5781del (p.Val1923_Glu1927del)	PCDH15	Deletion (inframe_deletion +1 more)	not provided	GLikely benign
Select item 1086655	NM_033056.4(PCDH15):c.5772A>T (p.Thr1924=)	PCDH15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1912312	NM_033056.4(PCDH15):c.5771C>T (p.Thr1924Ile)	PCDH15 (T1855I +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2055023	NM_033056.4(PCDH15):c.5764del (p.Glu1922fs)	PCDH15 (E1899fs +8 more)	Deletion (frameshift variant +1 more)	not provided	GLikely benign
Select item 1354310	NM_033056.4(PCDH15):c.5762C>T (p.Ser1921Leu)	PCDH15 (S1898L +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1475719	NM_033056.4(PCDH15):c.5761T>G (p.Ser1921Ala)	PCDH15 (S1899A +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1428684	NM_033056.4(PCDH15):c.5759C>G (p.Pro1920Arg)	PCDH15 (P1898R +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2860854	NM_033056.4(PCDH15):c.5757C>T (p.Cys1919=)	PCDH15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1051164	NM_033056.4(PCDH15):c.5757C>A (p.Cys1919Ter)	PCDH15 (C1850* +8 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely benign
Select item 957615	NM_033056.4(PCDH15):c.5755T>A (p.Cys1919Ser)	PCDH15 (C1850S +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1490178	NM_033056.4(PCDH15):c.5753T>C (p.Met1918Thr)	PCDH15 (M1895T +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1144941	NM_033056.4(PCDH15):c.5748A>G (p.Gln1916=)	PCDH15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2182977	NM_033056.4(PCDH15):c.5741_5743dup (p.Glu1914_Leu1915insGln)	PCDH15	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 1638080	NM_033056.4(PCDH15):c.5733T>C (p.Asn1911=)	PCDH15	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1077363	NM_033056.4(PCDH15):c.5727C>T (p.Arg1909=)	PCDH15	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 300166	NM_033056.4(PCDH15):c.5726G>T (p.Arg1909Leu)	PCDH15 (R1909L +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	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 specified +2 more	GUncertain significance
Select item 1525552	NM_033056.4(PCDH15):c.5725C>T (p.Arg1909Cys)	PCDH15 (R1869C +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	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 1180252	NM_033056.4(PCDH15):c.5721_5724del (p.Leu1908fs)	PCDH15 (L1839fs +8 more)	Deletion (frameshift variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1629448	NM_033056.4(PCDH15):c.5719dup (p.Tyr1907fs)	PCDH15 (Y1838fs +8 more)	Duplication (frameshift variant +1 more)	not provided	GLikely benign
Select item 2704916	NM_033056.4(PCDH15):c.5716_5718del (p.Asn1906del)	PCDH15 (N1883del +8 more)	Deletion (inframe_deletion +1 more)	not provided	GLikely benign
Select item 2105160	NM_033056.4(PCDH15):c.5715_5718del (p.Lys1905fs)	PCDH15 (K1885fs +8 more)	Deletion (frameshift variant +1 more)	not provided	GLikely benign
Select item 1004422	NM_033056.4(PCDH15):c.5717dup (p.Asn1906fs)	PCDH15 (N1837fs +8 more)	Duplication (frameshift variant +1 more)	not provided	GLikely benign
Select item 1568739	NM_033056.4(PCDH15):c.5717del (p.Asn1906fs)	PCDH15 (N1837fs +8 more)	Deletion (frameshift variant +1 more)	not provided	GLikely benign
Select item 2200428	NM_033056.4(PCDH15):c.5716A>G (p.Asn1906Asp)	PCDH15 (N1837D +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2826882	NM_033056.4(PCDH15):c.5715A>G (p.Lys1905=)	PCDH15	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2187066	NM_033056.4(PCDH15):c.5714A>G (p.Lys1905Arg)	PCDH15 (K1836R +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1045429	NM_033056.4(PCDH15):c.5711A>G (p.Glu1904Gly)	PCDH15 (E1882G +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2044937	NM_033056.4(PCDH15):c.5710G>C (p.Glu1904Gln)	PCDH15 (E1835Q +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1601942	NM_033056.4(PCDH15):c.5706_5709dup (p.Glu1904fs)	PCDH15 (E1835fs +8 more)	Duplication (frameshift variant +1 more)	not provided	GLikely benign
Select item 1390661	NM_033056.4(PCDH15):c.5709A>G (p.Ile1903Met)	PCDH15 (I1900M +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 968015	NM_033056.4(PCDH15):c.5708T>C (p.Ile1903Thr)	PCDH15 (I1863T +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 46507	NM_033056.4(PCDH15):c.5707A>G (p.Ile1903Val)	PCDH15 (I1903V +8 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 1925300	NM_033056.4(PCDH15):c.5702_5705del (p.Ser1901fs)	PCDH15 (S1861fs +8 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1644879	NM_033056.4(PCDH15):c.5704C>T (p.Gln1902Ter)	PCDH15 (Q1833* +8 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely benign
Select item 966407	NM_033056.4(PCDH15):c.5701A>G (p.Ser1901Gly)	PCDH15 (S1832G +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2021935	NM_033056.4(PCDH15):c.5699dup (p.Tyr1900Ter)	PCDH15 (Y1831* +8 more)	Duplication (nonsense +1 more)	not provided	GLikely benign
Select item 2747556	NM_033056.4(PCDH15):c.5673_5697dup (p.Tyr1900delinsThrTer)	PCDH15	Duplication (nonsense +1 more)	not provided	GLikely benign
Select item 1489408	NM_033056.4(PCDH15):c.5697G>A (p.Met1899Ile)	PCDH15 (M1859I +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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