14674[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154900	GRCh38/hg38 10q11.21-21.3(chr10:42112187-67400675)x3	A1CF, ADO +561 more	Copy number gain	See cases	GPathogenic
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 148171	GRCh38/hg38 10q21.1(chr10:53051023-54726415)x1	LOC105378311, MIR548F1 +1 more	Copy number loss	See cases	GUncertain significance
Select item 149395	GRCh38/hg38 10q21.1(chr10:53051046-54726547)x1	LOC105378311, MIR548F1 +1 more	Copy number loss	See cases	GPathogenic
Select item 150846	GRCh38/hg38 10q21.1(chr10:53308026-56420041)x3	LOC105378311, LOC126860936 +8 more	Copy number gain	See cases	GLikely benign
Select item 148078	GRCh38/hg38 10q21.1(chr10:53366596-56420041)x4	LOC105378311, LOC126860936 +8 more	Copy number gain	See cases	GUncertain significance
Select item 57887	GRCh38/hg38 10q21.1(chr10:53477144-54916701)x3	LOC105378311, MIR548F1 +1 more	Copy number gain	See cases	GUncertain significance
Select item 1260498	NM_001384140.1(PCDH15):c.*144GA[4]	PCDH15	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 1186188	NM_001384140.1(PCDH15):c.*16A>C	PCDH15	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 229130	NM_001384140.1(PCDH15):c.*14A>G	PCDH15	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
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 3239689	NM_001384140.1(PCDH15):c.5160_5163dup (p.Asp1722Ter)	PCDH15 (D1657* +4 more)	Duplication (nonsense)	Usher syndrome type 1D	GLikely pathogenic
Select item 227005	NM_001384140.1(PCDH15):c.5156A>C (p.Gln1719Pro)	PCDH15 (Q1661P +4 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 227004	NM_001384140.1(PCDH15):c.5124G>A (p.Lys1708=)	PCDH15	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
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 229131	NM_001384140.1(PCDH15):c.5105_5108dup (p.Asp1703_Ser1704insTer)	PCDH15	Duplication (nonsense +1 more)	Autosomal recessive nonsyndromic hearing loss 23 +4 more	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 3058320	NM_001384140.1(PCDH15):c.5052G>A (p.Ala1684=)	PCDH15	Single nucleotide variant (synonymous variant)	PCDH15-related disorder	GLikely benign
Select item 549881	NM_001384140.1(PCDH15):c.5043_5045dup (p.Asn1682dup)	PCDH15	Duplication (inframe_insertion)	Usher syndrome type 1F	GUncertain significance
Select item 3355864	NM_001384140.1(PCDH15):c.5041_5044dup (p.Asn1682fs)	PCDH15 (N1617fs +4 more)	Duplication (frameshift variant)	PCDH15-related disorder	GUncertain significance
Select item 931470	NM_001384140.1(PCDH15):c.5045A>G (p.Asn1682Ser)	PCDH15 (N1660S +4 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1D	GUncertain significance
Select item 497391	NM_001384140.1(PCDH15):c.5022C>T (p.Ala1674=)	PCDH15	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2242445	NM_001384140.1(PCDH15):c.5017T>A (p.Phe1673Ile)	PCDH15 (F1615I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 587635	NM_001384140.1(PCDH15):c.4990dup (p.Met1664fs)	PCDH15 (M1606fs +4 more)	Duplication (frameshift variant)	Usher syndrome type 1F +1 more	GConflicting classifications of pathogenicity
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 1306639	NM_001384140.1(PCDH15):c.4955_4959dup (p.Leu1654fs)	PCDH15 (L1589fs +4 more)	Duplication (frameshift variant)	not provided	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 227837	NM_001384140.1(PCDH15):c.4891C>T (p.Leu1631=)	PCDH15	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 227003	NM_001384140.1(PCDH15):c.4860G>A (p.Thr1620=)	PCDH15	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 930638	NM_001384140.1(PCDH15):c.4840A>G (p.Thr1614Ala)	PCDH15 (T1549A +4 more)	Single nucleotide variant (missense variant)	Usher syndrome type 1D	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 3250392	NM_001384140.1(PCDH15):c.4809_4827dup (p.Ser1610fs)	PCDH15 (S1545fs +4 more)	Duplication (frameshift variant)	Usher syndrome type 1F	GPathogenic
Select item 1194755	NM_001384140.1(PCDH15):c.4803C>T (p.Gly1601=)	PCDH15	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 227836	NM_001384140.1(PCDH15):c.4801G>A (p.Gly1601Ser)	PCDH15 (G1543S +4 more)	Single nucleotide variant (missense variant)	not specified	GConflicting classifications of pathogenicity
Select item 3348028	NM_001384140.1(PCDH15):c.4765C>T (p.Arg1589Cys)	PCDH15 (R1524C +4 more)	Single nucleotide variant (missense variant)	PCDH15-related disorder	GUncertain significance
Select item 227835	NM_001384140.1(PCDH15):c.4758G>A (p.Gln1586=)	PCDH15	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 227002	NM_001384140.1(PCDH15):c.4728_4730dup (p.Thr1577dup)	PCDH15	Duplication (inframe_insertion)	not specified +1 more	GBenign
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 1050593	NM_001384140.1(PCDH15):c.4712A>C (p.Glu1571Ala)	PCDH15 (E1506A +4 more)	Single nucleotide variant (missense variant)	not provided +3 more	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 1F +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 501244	NM_001384140.1(PCDH15):c.4672-4_4672-2dup	PCDH15	Duplication (splice acceptor variant)	not provided	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 1701133	NM_001384140.1(PCDH15):c.4672-8_4672-4del	PCDH15	Microsatellite (intron variant)	not provided	GLikely benign
Select item 3353123	NM_001384140.1(PCDH15):c.4672-10_4672-7dup	PCDH15	Duplication (intron variant)	PCDH15-related disorder	GLikely benign
Select item 1185963	NM_001384140.1(PCDH15):c.4672-26_4672-23dup	PCDH15	Duplication (intron variant)	not provided	GLikely benign
Select item 1216868	NM_001384140.1(PCDH15):c.4672-294dup	PCDH15	Duplication (intron variant)	not provided	GLikely benign
Select item 1236024	NM_001384140.1(PCDH15):c.4672-1439G>A	PCDH15	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
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 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 3209156	NM_001384140.1(PCDH15):c.4672-1582G>T	PCDH15 (G1785C +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 179491	NM_001384140.1(PCDH15):c.4672-1586T>C	PCDH15	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 3030339	NM_001384140.1(PCDH15):c.4672-1601G>T	PCDH15	Single nucleotide variant (synonymous variant +2 more)	PCDH15-related disorder	GLikely benign
Select item 178960	NM_001384140.1(PCDH15):c.4672-1607delinsAGT	PCDH15 (K1770fs +1 more)	Indel (frameshift variant +2 more)	not specified	GUncertain significance
Select item 44037	NM_001384140.1(PCDH15):c.4672-1637G>A	PCDH15	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 287386	NM_001384140.1(PCDH15):c.4672-1638C>T	PCDH15 (A1766V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 227000	NM_001384140.1(PCDH15):c.4672-1640A>G	PCDH15	Single nucleotide variant (synonymous variant +2 more)	not specified +4 more	GBenign/Likely benign
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 229129	NM_001384140.1(PCDH15):c.4672-1657del	PCDH15 (W1753fs +1 more)	Deletion (frameshift variant +2 more)	not specified	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 3209155	NM_001384140.1(PCDH15):c.4672-1669T>C	PCDH15 (S1756P +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
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 929913	NM_001384140.1(PCDH15):c.4672-1689G>A	PCDH15 (S1742N +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3304583	NM_001384140.1(PCDH15):c.4672-1694T>A	PCDH15 (S1747R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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 specified +1 more	GBenign
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 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 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 2268708	NM_001384140.1(PCDH15):c.4671+1688G>C	PCDH15 (V1733L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2640481	NM_001384140.1(PCDH15):c.4671+1657C>T	PCDH15	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3257408	NM_001384140.1(PCDH15):c.4671+1644A>G	PCDH15 (E1711G +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 715737	NM_001384140.1(PCDH15):c.4671+1643G>A	PCDH15 (E1718K +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 504994	NM_001384140.1(PCDH15):c.4671+1642T>C	PCDH15	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GLikely benign
Select item 3209154	NM_001384140.1(PCDH15):c.4671+1640C>T	PCDH15 (P1717S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 552177	NM_001384140.1(PCDH15):c.4671+1617_4671+1637del	PCDH15	Deletion (inframe_deletion +2 more)	Usher syndrome type 1F	GUncertain significance
Select item 282913	NM_001384140.1(PCDH15):c.4671+1633T>A	PCDH15 (S1714R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 546640	NM_001384140.1(PCDH15):c.4671+1616G>A	PCDH15 (A1709T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 164886	NM_001384140.1(PCDH15):c.4671+1595GAA[3]	PCDH15 (E1705del +1 more)	Microsatellite (inframe_deletion +2 more)	not specified	GUncertain significance
Select item 553859	NM_001384140.1(PCDH15):c.4671+1577GAA[3]	PCDH15 (E1692del +1 more)	Microsatellite (inframe_deletion +2 more)	Usher syndrome type 1F	GUncertain significance
Select item 3304577	NM_001384140.1(PCDH15):c.4671+1574A>T	PCDH15 (M1688L +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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 553502	NM_001384140.1(PCDH15):c.4671+1559C>T	PCDH15 (Q1690* +1 more)	Single nucleotide variant (nonsense +2 more)	Usher syndrome type 1F +1 more	GUncertain significance
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 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 2226248	NM_001384140.1(PCDH15):c.4671+1535A>T	PCDH15 (R1675W +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	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

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