55704[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 59143	GRCh38/hg38 2p22.1-16.1(chr2:40738282-57863821)x3	ABCG5, ABCG8 +443 more	Copy number gain	See cases	GPathogenic
Select item 1477191	NM_001365480.1(CCDC88A):c.5612C>T (p.Ser1871Phe)	CCDC88A (S1796F +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1628312	NM_001365480.1(CCDC88A):c.5610C>T (p.Ser1870=)	CCDC88A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1421774	NM_001365480.1(CCDC88A):c.5605C>G (p.Gln1869Glu)	CCDC88A (Q1794E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1642061	NM_001365480.1(CCDC88A):c.5601G>A (p.Glu1867=)	CCDC88A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2008829	NM_001365480.1(CCDC88A):c.5589C>T (p.Ser1863=)	CCDC88A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1648254	NM_001365480.1(CCDC88A):c.5583A>T (p.Ser1861=)	CCDC88A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1948211	NM_001365480.1(CCDC88A):c.5582C>T (p.Ser1861Leu)	CCDC88A (S1861L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1508187	NM_001365480.1(CCDC88A):c.5581T>G (p.Ser1861Ala)	CCDC88A (S1833A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 728573	NM_001365480.1(CCDC88A):c.5560A>G (p.Lys1854Glu)	CCDC88A (K1853E +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1598062	NM_001365480.1(CCDC88A):c.5551+10A>G	CCDC88A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3010570	NM_001365480.1(CCDC88A):c.5551+9C>T	CCDC88A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1636522	NM_001365480.1(CCDC88A):c.5551+7dup	CCDC88A	Duplication (intron variant)	not provided	GLikely benign
Select item 1500312	NM_001365480.1(CCDC88A):c.5550T>C (p.Ser1850=)	CCDC88A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1414348	NM_001365480.1(CCDC88A):c.5534A>G (p.Asn1845Ser)	CCDC88A (N1770S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1551740	NM_001365480.1(CCDC88A):c.5499A>T (p.Ile1833=)	CCDC88A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1959418	NM_001365480.1(CCDC88A):c.5497A>C (p.Ile1833Leu)	CCDC88A (I1758L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1377987	NM_001365480.1(CCDC88A):c.5497A>G (p.Ile1833Val)	CCDC88A (I1832V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2337408	NM_001365480.1(CCDC88A):c.5494C>A (p.Pro1832Thr)	CCDC88A (P1832T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1384873	NM_001365480.1(CCDC88A):c.5486G>A (p.Ser1829Asn)	CCDC88A (S1754N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1653444	NM_001365480.1(CCDC88A):c.5484C>T (p.Asp1828=)	CCDC88A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1484722	NM_001365480.1(CCDC88A):c.5477C>A (p.Thr1826Asn)	CCDC88A (T1826N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1943610	NM_001365480.1(CCDC88A):c.5469T>C (p.Asp1823=)	CCDC88A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3139531	NM_001365480.1(CCDC88A):c.5461A>G (p.Ile1821Val)	CCDC88A (I1821V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1477024	NM_001365480.1(CCDC88A):c.5459G>A (p.Ser1820Asn)	CCDC88A (S1820N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2775997	NM_001365480.1(CCDC88A):c.5457A>G (p.Thr1819=)	CCDC88A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1400361	NM_001365480.1(CCDC88A):c.5456C>T (p.Thr1819Ile)	CCDC88A (T1818I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1518634	NM_001365480.1(CCDC88A):c.5450G>A (p.Arg1817Gln)	CCDC88A (R1789Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1578364	NM_001365480.1(CCDC88A):c.5448A>G (p.Thr1816=)	CCDC88A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2790668	NM_001365480.1(CCDC88A):c.5439A>G (p.Glu1813=)	CCDC88A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1347680	NM_001365480.1(CCDC88A):c.5437G>A (p.Glu1813Lys)	CCDC88A (E1738K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1897796	NM_001365480.1(CCDC88A):c.5436C>T (p.Ala1812=)	CCDC88A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1355568	NM_001365480.1(CCDC88A):c.5434G>T (p.Ala1812Ser)	CCDC88A (A1784S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1968964	NM_001365480.1(CCDC88A):c.5432C>T (p.Thr1811Ile)	CCDC88A (T1811I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1387942	NM_001365480.1(CCDC88A):c.5422G>A (p.Val1808Met)	CCDC88A (V1780M +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2798905	NM_001365480.1(CCDC88A):c.5421C>T (p.Ser1807=)	CCDC88A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1421359	NM_001365480.1(CCDC88A):c.5417G>C (p.Ser1806Thr)	CCDC88A (S1778T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1640294	NM_001365480.1(CCDC88A):c.5415A>C (p.Ala1805=)	CCDC88A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1486235	NM_001365480.1(CCDC88A):c.5411G>A (p.Arg1804His)	CCDC88A (R1804H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3139530	NM_001365480.1(CCDC88A):c.5410C>T (p.Arg1804Cys)	CCDC88A (R1804C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1899337	NM_001365480.1(CCDC88A):c.5398G>A (p.Ala1800Thr)	CCDC88A (A1800T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2787029	NM_001365480.1(CCDC88A):c.5397T>C (p.Tyr1799=)	CCDC88A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1916362	NM_001365480.1(CCDC88A):c.5395T>C (p.Tyr1799His)	CCDC88A (Y1799H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2978808	NM_001365480.1(CCDC88A):c.5393C>T (p.Pro1798Leu)	CCDC88A (P1770L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2415125	NM_001365480.1(CCDC88A):c.5371C>G (p.Arg1791Gly)	CCDC88A (R1763G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1549694	NM_001365480.1(CCDC88A):c.5355A>G (p.Lys1785=)	CCDC88A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1917349	NM_001365480.1(CCDC88A):c.5341A>T (p.Ile1781Leu)	CCDC88A (I1781L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1466577	NM_001365480.1(CCDC88A):c.5341A>G (p.Ile1781Val)	CCDC88A (I1753V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2005409	NM_001365480.1(CCDC88A):c.5340A>C (p.Lys1780Asn)	CCDC88A (K1752N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1917350	NM_001365480.1(CCDC88A):c.5336G>T (p.Gly1779Val)	CCDC88A (G1778V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1491763	NM_001365480.1(CCDC88A):c.5327G>C (p.Gly1776Ala)	CCDC88A (G1748A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2155346	NM_001365480.1(CCDC88A):c.5324C>T (p.Pro1775Leu)	CCDC88A (P1774L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1519542	NM_001365480.1(CCDC88A):c.5321C>T (p.Thr1774Ile)	CCDC88A (T1746I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 714124	NM_001365480.1(CCDC88A):c.5320A>G (p.Thr1774Ala)	CCDC88A (T1773A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1665607	NM_001365480.1(CCDC88A):c.5310G>A (p.Ala1770=)	CCDC88A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1349500	NM_001365480.1(CCDC88A):c.5309C>T (p.Ala1770Val)	CCDC88A (A1769V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1422344	NM_001365480.1(CCDC88A):c.5306C>G (p.Ser1769Cys)	CCDC88A (S1741C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2090649	NM_001365480.1(CCDC88A):c.5303G>C (p.Ser1768Thr)	CCDC88A (S1767T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1904603	NM_001365480.1(CCDC88A):c.5303G>A (p.Ser1768Asn)	CCDC88A (S1768N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1404237	NM_001365480.1(CCDC88A):c.5287G>C (p.Asp1763His)	CCDC88A (D1763H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1953469	NM_001365480.1(CCDC88A):c.5276G>A (p.Arg1759Gln)	CCDC88A (R1731Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1999933	NM_001365480.1(CCDC88A):c.5264G>A (p.Arg1755Lys)	CCDC88A (R1727K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1623649	NM_001365480.1(CCDC88A):c.5260T>C (p.Leu1754=)	CCDC88A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1621290	NM_001365480.1(CCDC88A):c.5250G>A (p.Lys1750=)	CCDC88A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3009331	NM_001365480.1(CCDC88A):c.5241G>A (p.Arg1747=)	CCDC88A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1434348	NM_001365480.1(CCDC88A):c.5240G>A (p.Arg1747Gln)	CCDC88A (R1719Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1897599	NM_001365480.1(CCDC88A):c.5239C>T (p.Arg1747Trp)	CCDC88A (R1747W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1920534	NM_001365480.1(CCDC88A):c.5232T>C (p.Tyr1744=)	CCDC88A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1980106	NM_001365480.1(CCDC88A):c.5231A>G (p.Tyr1744Cys)	CCDC88A (Y1744C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1415465	NM_001365480.1(CCDC88A):c.5219C>G (p.Pro1740Arg)	CCDC88A (P1739R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1931693	NM_001365480.1(CCDC88A):c.5218C>T (p.Pro1740Ser)	CCDC88A (P1712S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1485899	NM_001365480.1(CCDC88A):c.5210G>T (p.Gly1737Val)	CCDC88A (G1709V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1576832	NM_001365480.1(CCDC88A):c.5199G>A (p.Arg1733=)	CCDC88A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1491463	NM_001365480.1(CCDC88A):c.5197A>G (p.Arg1733Gly)	CCDC88A (R1705G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2863555	NM_001365480.1(CCDC88A):c.5187T>C (p.Cys1729=)	CCDC88A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2001959	NM_001365480.1(CCDC88A):c.5182A>G (p.Ser1728Gly)	CCDC88A (S1728G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1388123	NM_001365480.1(CCDC88A):c.5179G>C (p.Val1727Leu)	CCDC88A (V1699L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1468794	NM_001365480.1(CCDC88A):c.5177C>T (p.Pro1726Leu)	CCDC88A (P1726L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1501258	NM_001365480.1(CCDC88A):c.5174A>T (p.Lys1725Ile)	CCDC88A (K1697I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2149741	NM_001365480.1(CCDC88A):c.5170G>C (p.Asp1724His)	CCDC88A (D1723H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1486641	NM_001365480.1(CCDC88A):c.5165G>A (p.Gly1722Glu)	CCDC88A (G1722E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1537798	NM_001365480.1(CCDC88A):c.5161T>C (p.Leu1721=)	CCDC88A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1499490	NM_001365480.1(CCDC88A):c.5153C>A (p.Ser1718Tyr)	CCDC88A (S1690Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1492732	NM_001365480.1(CCDC88A):c.5153C>T (p.Ser1718Phe)	CCDC88A (S1690F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1432393	NM_001365480.1(CCDC88A):c.5147T>C (p.Val1716Ala)	CCDC88A (V1688A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1520497	NM_001365480.1(CCDC88A):c.5141T>C (p.Leu1714Ser)	CCDC88A (L1713S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2898309	NM_001365480.1(CCDC88A):c.5140T>C (p.Leu1714=)	CCDC88A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1446430	NM_001365480.1(CCDC88A):c.5140T>G (p.Leu1714Val)	CCDC88A (L1714V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 764872	NM_001365480.1(CCDC88A):c.5121A>G (p.Leu1707=)	CCDC88A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000499	NM_001365480.1(CCDC88A):c.5112G>A (p.Glu1704=)	CCDC88A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1424365	NM_001365480.1(CCDC88A):c.5107C>G (p.Gln1703Glu)	CCDC88A (Q1703E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1944230	NM_001365480.1(CCDC88A):c.5101T>G (p.Ser1701Ala)	CCDC88A (S1700A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1541655	NM_001365480.1(CCDC88A):c.5097G>A (p.Lys1699=)	CCDC88A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1471547	NM_001365480.1(CCDC88A):c.5092A>C (p.Ile1698Leu)	CCDC88A (I1697L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1563404	NM_001365480.1(CCDC88A):c.5092-7dup	CCDC88A	Duplication (intron variant)	not provided	GBenign
Select item 1168474	NM_001365480.1(CCDC88A):c.5092-7del	CCDC88A	Deletion (intron variant)	not provided	GBenign
Select item 1625927	NM_001365480.1(CCDC88A):c.5092-11T>G	CCDC88A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2107471	NM_001365480.1(CCDC88A):c.5092-20T>A	CCDC88A	Single nucleotide variant (intron variant)	not provided	GLikely benign

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