CHM[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1698965	NM_000390.4(CHM):c.1960T>C (p.Ter654Gln)	CHM	Single nucleotide variant (stop lost)	not provided +1 more	GUncertain significance
Select item 2074156	NM_000390.4(CHM):c.1954T>G (p.Ser652Ala)	CHM (S652A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2842747	NM_000390.4(CHM):c.1950G>A (p.Glu650=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1800739	NM_000390.4(CHM):c.1948_1949inv (p.Glu650Ser)	CHM (E502S +1 more)	Inversion (missense variant)	not provided	GUncertain significance
Select item 1494953	NM_000390.4(CHM):c.1945G>A (p.Glu649Lys)	CHM (E501K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 715156	NM_000390.4(CHM):c.1922_1933dup (p.Asn644_Leu645insGlnSerThrAsn)	CHM	Duplication (inframe_insertion)	not provided	GBenign
Select item 1165534	NM_000390.4(CHM):c.1929A>C (p.Thr643=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 794377	NM_000390.4(CHM):c.1920G>A (p.Lys640=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1494857	NM_000390.4(CHM):c.1918A>G (p.Lys640Glu)	CHM (K492E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2866511	NM_000390.4(CHM):c.1908G>T (p.Ser636=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1100140	NM_000390.4(CHM):c.1908G>A (p.Ser636=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1034748	NM_000390.4(CHM):c.1907C>T (p.Ser636Leu)	CHM (S488L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3267052	NM_000390.4(CHM):c.1905C>A (p.Asn635Lys)	CHM (N635K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1094270	NM_000390.4(CHM):c.1902T>C (p.Ala634=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 951473	NM_000390.4(CHM):c.1893A>G (p.Ile631Met)	CHM (I483M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1655171	NM_000390.4(CHM):c.1890C>T (p.Ala630=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1395902	NM_000390.4(CHM):c.1879G>A (p.Glu627Lys)	CHM (E627K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1135900	NM_000390.4(CHM):c.1866G>A (p.Gln622=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2134152	NM_000390.4(CHM):c.1865A>G (p.Gln622Arg)	CHM (Q622R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967710	NM_000390.4(CHM):c.1864C>T (p.Gln622Ter)	CHM (Q622* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1140086	NM_000390.4(CHM):c.1857C>A (p.Asp619Glu)	CHM (D471E +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1613172	NM_000390.4(CHM):c.1854A>G (p.Gly618=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1167756	NM_000390.4(CHM):c.1833T>C (p.Pro611=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2141614	NM_000390.4(CHM):c.1828A>G (p.Asn610Asp)	CHM (N610D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1138872	NM_000390.4(CHM):c.1827A>G (p.Pro609=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1438261	NM_000390.4(CHM):c.1820C>T (p.Pro607Leu)	CHM (P607L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1459764	NM_000390.4(CHM):c.1775_1814del (p.Glu592fs)	CHM (E592fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2125416	NM_000390.4(CHM):c.1812C>T (p.Phe604=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1614102	NM_000390.4(CHM):c.1809T>C (p.Asp603=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1472417	NM_000390.4(CHM):c.1807G>T (p.Asp603Tyr)	CHM (D455Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 698222	NM_000390.4(CHM):c.1802A>G (p.Asn601Ser)	CHM (N601S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1923501	NM_000390.4(CHM):c.1793T>C (p.Ile598Thr)	CHM (I598T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1383453	NM_000390.4(CHM):c.1791A>T (p.Glu597Asp)	CHM (E449D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1116003	NM_000390.4(CHM):c.1791A>G (p.Glu597=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1655564	NM_000390.4(CHM):c.1788G>A (p.Gln596=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 796445	NM_000390.4(CHM):c.1782T>C (p.Leu594=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2911748	NM_000390.4(CHM):c.1773T>C (p.Ala591=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 449467	NM_000390.4(CHM):c.1771-1G>A	CHM	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1011961	NM_000390.4(CHM):c.1771-4C>T	CHM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 499516	NM_000390.4(CHM):c.1771-8T>C	CHM	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1104742	NM_000390.4(CHM):c.1771-9C>T	CHM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2799049	NM_000390.4(CHM):c.1771-12T>C	CHM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2743460	NM_000390.4(CHM):c.1771-16T>G	CHM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2917992	NM_000390.4(CHM):c.1771-20A>G	CHM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179759	NM_000390.4(CHM):c.1771-74del	CHM	Deletion (intron variant)	not provided	GBenign
Select item 1243288	NM_000390.4(CHM):c.1771-112T>G	CHM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237913	NM_000390.4(CHM):c.1771-129T>A	CHM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262776	NM_000390.4(CHM):c.1770+149A>G	CHM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2070860	NM_000390.4(CHM):c.1770+19C>T	CHM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1602219	NM_000390.4(CHM):c.1770+16T>A	CHM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2912952	NM_000390.4(CHM):c.1770+12G>T	CHM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1639840	NM_000390.4(CHM):c.1770+10T>C	CHM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1493039	NM_000390.4(CHM):c.1770+7C>T	CHM	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 866469	NM_000390.4(CHM):c.1770+2T>A	CHM	Single nucleotide variant (splice donor variant)	Retinal dystrophy	GLikely pathogenic
Select item 2032779	NM_000390.4(CHM):c.1770+1G>C	CHM	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2737265	NM_000390.4(CHM):c.1762_1765del (p.Val588fs)	CHM (V440fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1533746	NM_000390.4(CHM):c.1764C>G (p.Val588=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1164461	NM_000390.4(CHM):c.1758T>C (p.Asn586=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2975051	NM_000390.4(CHM):c.1751A>G (p.Asn584Ser)	CHM (N436S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2007306	NM_000390.4(CHM):c.1748G>A (p.Gly583Glu)	CHM (G435E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1492823	NM_000390.4(CHM):c.1741G>C (p.Gly581Arg)	CHM (G433R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2075379	NM_000390.4(CHM):c.1738T>G (p.Cys580Gly)	CHM (C580G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1117454	NM_000390.4(CHM):c.1737T>C (p.Asp579=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2751243	NM_000390.4(CHM):c.1733del (p.Pro578fs)	CHM (P578fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1109970	NM_000390.4(CHM):c.1731C>T (p.Gly577=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1151009	NM_000390.4(CHM):c.1722C>G (p.Val574=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2707681	NM_000390.4(CHM):c.1716_1721del (p.Tyr573_Val574del)	CHM	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1667098	NM_000390.4(CHM):c.1719T>C (p.Tyr573=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 840537	NM_000390.4(CHM):c.1718_1719del (p.Tyr573fs)	CHM (Y573fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2957296	NM_000390.4(CHM):c.1718A>T (p.Tyr573Phe)	CHM (Y573F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698721	NM_000390.4(CHM):c.1714G>A (p.Val572Ile)	CHM (V424I +1 more)	Single nucleotide variant (missense variant)	Choroideremia	GUncertain significance
Select item 767506	NM_000390.4(CHM):c.1713C>T (p.Asn571=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2961109	NM_000390.4(CHM):c.1710C>T (p.Ser570=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983260	NM_000390.4(CHM):c.1707A>G (p.Pro569=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1626870	NM_000390.4(CHM):c.1704A>G (p.Leu568=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1569513	NM_000390.4(CHM):c.1698T>C (p.Asn566=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 936969	NM_000390.4(CHM):c.1695dup (p.Asn566Ter)	CHM (N418* +1 more)	Duplication (nonsense)	not provided	GPathogenic
Select item 2809655	NM_000390.4(CHM):c.1695T>A (p.Tyr565Ter)	CHM (Y417* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1380902	NM_000390.4(CHM):c.1695T>G (p.Tyr565Ter)	CHM (Y565* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1164425	NM_000390.4(CHM):c.1695T>C (p.Tyr565=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2102058	NM_000390.4(CHM):c.1694A>T (p.Tyr565Phe)	CHM (Y417F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1647305	NM_000390.4(CHM):c.1689C>T (p.Ser563=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 942262	NM_000390.4(CHM):c.1680_1681insTAACAGACATATAAC (p.Ser561Ter)	CHM (S413* +1 more)	Insertion (nonsense)	not provided	GPathogenic
Select item 2784526	NM_000390.4(CHM):c.1680C>T (p.Ile560=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 546493	NM_000390.4(CHM):c.1680del (p.Ser561fs)	CHM (S413fs +1 more)	Deletion (frameshift variant)	Choroideremia +1 more	GPathogenic/Likely pathogenic
Select item 723232	NM_000390.4(CHM):c.1678A>T (p.Ile560Phe)	CHM (I560F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1136082	NM_000390.4(CHM):c.1677C>T (p.Asp559=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2085526	NM_000390.4(CHM):c.1674del (p.Asp559fs)	CHM (D559fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1153914	NM_000390.4(CHM):c.1671G>A (p.Ser557=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1074957	NM_000390.4(CHM):c.1670C>A (p.Ser557Ter)	CHM (S409* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1061702	NM_000390.4(CHM):c.1670C>T (p.Ser557Leu)	CHM (S409L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 947713	NM_000390.4(CHM):c.1664G>C (p.Arg555Thr)	CHM (R555T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1073117	NM_000390.4(CHM):c.1663A>T (p.Arg555Ter)	CHM (R407* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1076303	NM_000390.4(CHM):c.1660_1661del (p.Met554fs)	CHM (M406fs +1 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2126775	NM_000390.4(CHM):c.1648_1660del (p.Ala549_Leu550insTer)	CHM	Deletion (nonsense)	not provided	GPathogenic
Select item 2663203	NM_000390.4(CHM):c.1658A>G (p.Asn553Ser)	CHM (N405S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2038225	NM_000390.4(CHM):c.1657A>G (p.Asn553Asp)	CHM (N553D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2120692	NM_000390.4(CHM):c.1656C>T (p.Phe552=)	CHM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 871857	NM_000390.4(CHM):c.1651_1655del (p.Tyr551fs)	CHM (Y551fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1458130	NM_000390.4(CHM):c.1653C>A (p.Tyr551Ter)	CHM (Y551* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic

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