C1622345[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

Search results

Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1446163	NM_198252.3(GSN):c.-9-2057_-9-2037dup	GSN	Duplication (inframe_insertion +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1413614	NM_198252.3(GSN):c.-9-2057_-9-2037del	GSN	Deletion (inframe_deletion +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1505340	NM_198252.3(GSN):c.-9-2058_-9-2047dup	GSN	Duplication (inframe_insertion +1 more)	not provided +1 more	GUncertain significance
Select item 1349199	NM_198252.3(GSN):c.-9-2043C>G	GSN (A20G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1358098	NM_198252.3(GSN):c.-9-1999_-9-1985del	GSN	Deletion (inframe_deletion +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1605774	NM_198252.3(GSN):c.-9-1951G>T	GSN	Single nucleotide variant (intron variant)	Finnish type amyloidosis +1 more	GLikely benign
Select item 1654262	NM_198252.3(GSN):c.-9-1943G>A	GSN	Single nucleotide variant (intron variant)	Finnish type amyloidosis +1 more	GLikely benign
Select item 1605769	NM_198252.3(GSN):c.-9-1942G>A	GSN	Single nucleotide variant (intron variant)	Finnish type amyloidosis +1 more	GLikely benign
Select item 1502773	NM_198252.3(GSN):c.162C>G (p.Asn54Lys)	GSN (N54K +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1606974	NM_198252.3(GSN):c.186C>T (p.His62=)	GSN	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1538771	NM_198252.3(GSN):c.197-4G>A	GSN	Single nucleotide variant (intron variant)	Finnish type amyloidosis +2 more	GBenign/Likely benign
Select item 1524125	NM_198252.3(GSN):c.235A>C (p.Ile79Leu)	GSN (I103L +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 364801	NM_198252.3(GSN):c.243C>T (p.Thr81=)	GSN	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 1513212	NM_198252.3(GSN):c.272G>A (p.Arg91Gln)	GSN (R102Q +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 738729	NM_198252.3(GSN):c.276C>T (p.Ala92=)	GSN	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1611096	NM_198252.3(GSN):c.285C>T (p.His95=)	GSN	Single nucleotide variant (synonymous variant +1 more)	Finnish type amyloidosis +1 more	GLikely benign
Select item 1623200	NM_198252.3(GSN):c.303C>T (p.Phe101=)	GSN	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1478008	NM_198252.3(GSN):c.322G>A (p.Gly108Ser)	GSN (G108S +6 more)	Single nucleotide variant (missense variant +1 more)	Finnish type amyloidosis +1 more	GUncertain significance
Select item 721925	NM_198252.3(GSN):c.393C>T (p.Asn131=)	GSN	Single nucleotide variant (synonymous variant +1 more)	Finnish type amyloidosis +1 more	GLikely benign
Select item 1413875	NM_198252.3(GSN):c.397G>T (p.Val133Leu)	GSN (V133L +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1403199	NM_198252.3(GSN):c.397G>A (p.Val133Met)	GSN (V141M +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1543686	NM_198252.3(GSN):c.431G>A (p.Arg144Gln)	GSN (R144Q +6 more)	Single nucleotide variant (missense variant +1 more)	Finnish type amyloidosis +2 more	GLikely benign
Select item 1449868	NM_198252.3(GSN):c.484G>A (p.Gly162Ser)	GSN (G162S +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 16180	NM_198252.3(GSN):c.487G>A (p.Asp163Asn)	GSN (D187N +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GPathogenic
Select item 1440755	NM_198252.3(GSN):c.513C>T (p.Asn171=)	GSN	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1365756	NM_198252.3(GSN):c.513+1G>A	GSN	Single nucleotide variant (splice donor variant)	Finnish type amyloidosis +1 more	GUncertain significance
Select item 1590215	NM_198252.3(GSN):c.513+19T>C	GSN	Single nucleotide variant (intron variant)	Finnish type amyloidosis +1 more	GBenign/Likely benign
Select item 785295	NM_198252.3(GSN):c.597C>T (p.Asn199=)	GSN	Single nucleotide variant (synonymous variant +1 more)	Finnish type amyloidosis +1 more	GBenign/Likely benign
Select item 1508588	NM_198252.3(GSN):c.602G>A (p.Arg201Gln)	GSN (R209Q +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1163312	NM_198252.3(GSN):c.616C>T (p.Arg206Ter)	GSN (R206* +6 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GUncertain significance
Select item 1443165	NM_198252.3(GSN):c.638G>A (p.Gly213Asp)	GSN (G224D +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 717916	NM_198252.3(GSN):c.664-4A>G	GSN	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1354034	NM_198252.3(GSN):c.692C>T (p.Ala231Val)	GSN (A231V +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1597987	NM_198252.3(GSN):c.741C>T (p.Ala247=)	GSN	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1349492	NM_198252.3(GSN):c.753+1G>A	GSN	Single nucleotide variant (splice donor variant)	not provided +3 more	GUncertain significance
Select item 1550443	NM_198252.3(GSN):c.754-8C>T	GSN	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1491645	NM_198252.3(GSN):c.761A>G (p.Asn254Ser)	GSN (N254S +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1426686	NM_198252.3(GSN):c.776T>C (p.Met259Thr)	GSN (M270T +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 364806	NM_198252.3(GSN):c.781G>A (p.Val261Ile)	GSN (V272I +7 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1387217	NM_198252.3(GSN):c.811G>A (p.Ala271Thr)	GSN (A282T +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1502087	NM_198252.3(GSN):c.856G>A (p.Gly286Ser)	GSN (G303S +7 more)	Single nucleotide variant (missense variant)	Finnish type amyloidosis +2 more	GConflicting classifications of pathogenicity
Select item 1553827	NM_198252.3(GSN):c.886+10A>G	GSN	Single nucleotide variant (intron variant)	Finnish type amyloidosis +1 more	GLikely benign
Select item 1667493	NM_198252.3(GSN):c.886+19G>A	GSN	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1553424	NM_198252.3(GSN):c.886+19G>T	GSN	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1373019	NM_198252.3(GSN):c.989C>T (p.Pro330Leu)	GSN (P330L +7 more)	Single nucleotide variant (missense variant)	Finnish type amyloidosis +1 more	GUncertain significance
Select item 1299155	NM_198252.3(GSN):c.997G>A (p.Gly333Ser)	GSN (G115S +7 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 741993	NM_198252.3(GSN):c.1009C>T (p.Leu337=)	GSN	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 364807	NM_198252.3(GSN):c.1037G>A (p.Arg346Gln)	GSN (R357Q +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1386683	NM_198252.3(GSN):c.1096G>A (p.Val366Met)	GSN (V383M +7 more)	Single nucleotide variant (missense variant)	Finnish type amyloidosis +2 more	GConflicting classifications of pathogenicity
Select item 1503281	NM_198252.3(GSN):c.1103G>A (p.Arg368Gln)	GSN (R379Q +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1447871	NM_198252.3(GSN):c.1190A>G (p.Gln397Arg)	GSN (Q405R +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 976635	NM_198252.3(GSN):c.1191+14G>A	GSN	Single nucleotide variant (intron variant)	Finnish type amyloidosis +1 more	GBenign/Likely benign
Select item 1346120	NM_198252.3(GSN):c.1204G>A (p.Glu402Lys)	GSN (E413K +7 more)	Single nucleotide variant (missense variant)	Finnish type amyloidosis +2 more	GUncertain significance
Select item 1644168	NM_198252.3(GSN):c.1325+14G>A	GSN	Single nucleotide variant (intron variant)	Finnish type amyloidosis +1 more	GLikely benign
Select item 1598245	NM_198252.3(GSN):c.1416+16C>T	GSN	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1674264	NM_198252.3(GSN):c.1416+17G>A	GSN	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1354479	NM_198252.3(GSN):c.1417A>G (p.Ser473Gly)	GSN (S484G +7 more)	Single nucleotide variant (missense variant)	Finnish type amyloidosis +1 more	GUncertain significance
Select item 1367763	NM_198252.3(GSN):c.1420C>T (p.Arg474Cys)	GSN (R482C +7 more)	Single nucleotide variant (missense variant)	Finnish type amyloidosis +1 more	GUncertain significance
Select item 1412403	NM_198252.3(GSN):c.1441C>A (p.Pro481Thr)	GSN (P263T +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1365804	NM_198252.3(GSN):c.1444G>A (p.Ala482Thr)	GSN (A518T +7 more)	Single nucleotide variant (missense variant)	Finnish type amyloidosis +2 more	GConflicting classifications of pathogenicity
Select item 1594353	NM_198252.3(GSN):c.1485C>T (p.Ile495=)	GSN	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1346280	NM_198252.3(GSN):c.1506C>T (p.Arg502=)	GSN	Single nucleotide variant (synonymous variant)	not provided +1 more	GUncertain significance
Select item 1413572	NM_198252.3(GSN):c.1507G>A (p.Glu503Lys)	GSN (E520K +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1429281	NM_198252.3(GSN):c.1538G>A (p.Arg513His)	GSN (R524H +7 more)	Single nucleotide variant (missense variant)	Finnish type amyloidosis +2 more	GConflicting classifications of pathogenicity
Select item 364821	NM_198252.3(GSN):c.1563C>T (p.Ser521=)	GSN	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1396833	NM_198252.3(GSN):c.1576C>T (p.Arg526Trp)	GSN (R577W +7 more)	Single nucleotide variant (missense variant)	Finnish type amyloidosis +1 more	GUncertain significance
Select item 1547901	NM_198252.3(GSN):c.1637A>G (p.Lys546Arg)	GSN (K328R +7 more)	Single nucleotide variant (missense variant)	Finnish type amyloidosis +1 more	GBenign/Likely benign
Select item 1478196	NM_198252.3(GSN):c.1690A>G (p.Lys564Glu)	GSN (K572E +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1484851	NM_198252.3(GSN):c.1762G>T (p.Asp588Tyr)	GSN (D596Y +7 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1615243	NM_198252.3(GSN):c.1762+20del	GSN	Deletion (intron variant)	Finnish type amyloidosis +1 more	GBenign/Likely benign
Select item 1638395	NM_198252.3(GSN):c.1762+19G>A	GSN	Single nucleotide variant (intron variant)	Finnish type amyloidosis +1 more	GLikely benign
Select item 1620745	NM_198252.3(GSN):c.1763-10C>T	GSN	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 364825	NM_198252.3(GSN):c.1782G>A (p.Leu594=)	GSN	Single nucleotide variant (synonymous variant)	Finnish type amyloidosis +3 more	GBenign/Likely benign
Select item 1430271	NM_198252.3(GSN):c.1850G>A (p.Arg617His)	GSN (R617H +7 more)	Single nucleotide variant (missense variant)	Finnish type amyloidosis +1 more	GUncertain significance
Select item 1450335	NM_198252.3(GSN):c.1870A>G (p.Lys624Glu)	GSN (K406E +7 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1523973	NM_198252.3(GSN):c.1880G>A (p.Arg627His)	GSN (R409H +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1578774	NM_198252.3(GSN):c.1887+11G>T	GSN	Single nucleotide variant (intron variant)	Finnish type amyloidosis +1 more	GBenign/Likely benign
Select item 1345306	NM_198252.3(GSN):c.1915C>T (p.Gln639Ter)	GSN (Q639* +7 more)	Single nucleotide variant (nonsense)	Finnish type amyloidosis +1 more	GUncertain significance
Select item 1600032	NM_198252.3(GSN):c.1932G>A (p.Thr644=)	GSN	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1512534	NM_198252.3(GSN):c.1939G>A (p.Val647Ile)	GSN (V658I +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1583829	NM_198252.3(GSN):c.2040C>T (p.Ile680=)	GSN	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1355051	NM_198252.3(GSN):c.2041G>A (p.Glu681Lys)	GSN (E681K +7 more)	Single nucleotide variant (missense variant)	Finnish type amyloidosis +2 more	GUncertain significance
Select item 364829	NM_198252.3(GSN):c.2046G>A (p.Thr682=)	GSN	Single nucleotide variant (synonymous variant)	Finnish type amyloidosis +2 more	GBenign/Likely benign
Select item 1442684	NM_198252.3(GSN):c.2065C>T (p.Arg689Trp)	GSN (R689W +7 more)	Single nucleotide variant (missense variant)	Finnish type amyloidosis +1 more	GUncertain significance
Select item 1574386	NM_198252.3(GSN):c.2082C>T (p.Thr694=)	GSN	Single nucleotide variant (synonymous variant)	Finnish type amyloidosis +1 more	GLikely benign
Select item 1374756	NM_198252.3(GSN):c.2137del (p.Asp713fs)	GSN (D764fs +7 more)	Deletion (frameshift variant)	not provided +1 more	GUncertain significance

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Items: 86