"Ambry Genetics"[submitter] AND "GSN"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 591908	NM_198252.3(GSN):c.-9-2091_-9-2064del	GSN (H4fs)	Deletion (frameshift variant +1 more)	Finnish type amyloidosis +2 more	GConflicting classifications of pathogenicity
Select item 1746988	NM_198252.3(GSN):c.-9-2091A>G	GSN (H4R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1746980	NM_198252.3(GSN):c.-9-2091A>C	GSN (H4P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1769341	NM_198252.3(GSN):c.-9-2090C>G	GSN (H4Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1773985	NM_198252.3(GSN):c.-9-2088G>T	GSN (R5L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2187411	NM_198252.3(GSN):c.-9-2084del	GSN (A7fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GUncertain significance
Select item 1356454	NM_198252.3(GSN):c.-9-2079_-9-2035del	GSN	Deletion (inframe_deletion +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 1732063	NM_198252.3(GSN):c.-9-2068T>G	GSN (C12G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 364795	NM_198252.3(GSN):c.-9-2021G>A	GSN	Single nucleotide variant (synonymous variant +1 more)	Finnish type amyloidosis +2 more	GConflicting classifications of pathogenicity
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 1355918	NM_198252.3(GSN):c.-9-1987G>A	GSN (A39T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1739144	NM_198252.3(GSN):c.-9-1986C>T	GSN (A39V)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 1421700	NM_198252.3(GSN):c.-9-1983C>T	GSN (P40L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1771980	NM_198252.3(GSN):c.-9-1962C>A	GSN (A47E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
Select item 1775894	NM_198252.3(GSN):c.5T>C (p.Val2Ala)	GSN (V10A +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 912416	NM_198252.3(GSN):c.7G>T (p.Val3Leu)	GSN (V11L +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1355926	NM_198252.3(GSN):c.18del (p.Glu7fs)	GSN (E15fs +6 more)	Deletion (frameshift variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2177229	NM_198252.3(GSN):c.19G>A (p.Glu7Lys)	GSN (E31K +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2241533	NM_198252.3(GSN):c.61C>T (p.Arg21Cys)	GSN (R29C +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 1400280	NM_198252.3(GSN):c.62G>A (p.Arg21His)	GSN (R21H +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1445833	NM_198252.3(GSN):c.76G>A (p.Asp26Asn)	GSN (D34N +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2204503	NM_198252.3(GSN):c.89T>G (p.Val30Gly)	GSN (V30G +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1792500	NM_198252.3(GSN):c.98A>C (p.Asn33Thr)	GSN (N41T +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 364797	NM_198252.3(GSN):c.123C>T (p.Gly41=)	GSN	Single nucleotide variant (synonymous variant +1 more)	Finnish type amyloidosis +2 more	GLikely benign
Select item 1535817	NM_198252.3(GSN):c.127G>T (p.Ala43Ser)	GSN (A43S +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2617650	NM_198252.3(GSN):c.131A>G (p.Tyr44Cys)	GSN (Y68C +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2991007	NM_198252.3(GSN):c.133G>A (p.Val45Ile)	GSN (V56I +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 770755	NM_198252.3(GSN):c.197-5C>T	GSN	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GLikely 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 1738818	NM_198252.3(GSN):c.268G>A (p.Gly90Ser)	GSN (G101S +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 364802	NM_198252.3(GSN):c.271C>T (p.Arg91Trp)	GSN (R102W +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
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 2617644	NM_198252.3(GSN):c.351+1G>A	GSN	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GUncertain significance
Select item 1745321	NM_198252.3(GSN):c.356G>A (p.Gly119Glu)	GSN (G155E +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1504919	NM_198252.3(GSN):c.394G>A (p.Glu132Lys)	GSN (E143K +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 913531	NM_198252.3(GSN):c.427G>A (p.Gly143Arg)	GSN (G154R +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1937443	NM_198252.3(GSN):c.430C>T (p.Arg144Trp)	GSN (R161W +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 1440711	NM_198252.3(GSN):c.434G>A (p.Arg145His)	GSN (R145H +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1520740	NM_198252.3(GSN):c.454G>T (p.Val152Leu)	GSN (V176L +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +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 3102921	NM_198252.3(GSN):c.542G>A (p.Ser181Asn)	GSN (S232N +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 913911	NM_198252.3(GSN):c.547C>T (p.Arg183Trp)	GSN (R200W +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2354539	NM_198252.3(GSN):c.548G>A (p.Arg183Gln)	GSN (R194Q +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1756717	NM_198252.3(GSN):c.548G>C (p.Arg183Pro)	GSN (R191P +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1758871	NM_198252.3(GSN):c.589C>T (p.Arg197Trp)	GSN (R205W +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2525973	NM_198252.3(GSN):c.592del (p.Asp198fs)	GSN (D222fs +6 more)	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1758925	NM_198252.3(GSN):c.590G>A (p.Arg197Gln)	GSN (R248Q +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1486694	NM_198252.3(GSN):c.601_602insT (p.Arg201fs)	GSN (R201fs +6 more)	Insertion (frameshift variant +1 more)	not provided +2 more	GUncertain significance
Select item 2601686	NM_198252.3(GSN):c.611G>A (p.Arg204Gln)	GSN (R204Q +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2304023	NM_198252.3(GSN):c.613G>A (p.Ala205Thr)	GSN (A205T +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1760259	NM_198252.3(GSN):c.617G>A (p.Arg206Gln)	GSN (R217Q +6 more)	Single nucleotide variant (missense variant +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 1763348	NM_198252.3(GSN):c.689C>T (p.Pro230Leu)	GSN (P254L +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1406799	NM_198252.3(GSN):c.700G>A (p.Glu234Lys)	GSN (E258K +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1383056	NM_198252.3(GSN):c.709G>A (p.Ala237Thr)	GSN (A237T +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1394223	NM_198252.3(GSN):c.722C>T (p.Ala241Val)	GSN (A23V +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 364805	NM_198252.3(GSN):c.723G>A (p.Ala241=)	GSN	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +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 3102923	NM_198252.3(GSN):c.787C>A (p.Leu263Ile)	GSN (L271I +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1768049	NM_198252.3(GSN):c.820G>A (p.Ala274Thr)	GSN (A291T +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1779522	NM_198252.3(GSN):c.906G>A (p.Glu302=)	GSN	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 1582340	NM_198252.3(GSN):c.947C>A (p.Thr316Asn)	GSN (T316N +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
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 1734175	NM_198252.3(GSN):c.998G>A (p.Gly333Asp)	GSN (G333D +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 364808	NM_198252.3(GSN):c.1098G>A (p.Val366=)	GSN	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
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 3102918	NM_198252.3(GSN):c.1132A>G (p.Thr378Ala)	GSN (T378A +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1769722	NM_198252.3(GSN):c.1160del (p.Gly387fs)	GSN (G169fs +7 more)	Deletion (frameshift variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1769701	NM_198252.3(GSN):c.1159G>A (p.Gly387Ser)	GSN (G438S +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 364809	NM_198252.3(GSN):c.1170C>T (p.Asp390=)	GSN	Single nucleotide variant (synonymous variant)	Finnish type amyloidosis +2 more	GBenign/Likely benign
Select item 976634	NM_198252.3(GSN):c.1171G>A (p.Asp391Asn)	GSN (D391N +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1770197	NM_198252.3(GSN):c.1180G>A (p.Gly394Ser)	GSN (G405S +7 more)	Single nucleotide variant (missense variant)	not provided +1 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 364810	NM_198252.3(GSN):c.1191+4C>T	GSN	Single nucleotide variant (intron variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2236312	NM_198252.3(GSN):c.1199G>C (p.Arg400Thr)	GSN (R182T +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 364811	NM_198252.3(GSN):c.1225G>A (p.Val409Met)	GSN (V420M +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 364812	NM_198252.3(GSN):c.1239A>G (p.Thr413=)	GSN	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 2255432	NM_198252.3(GSN):c.1251C>A (p.Phe417Leu)	GSN (F425L +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1771894	NM_198252.3(GSN):c.1252T>C (p.Tyr418His)	GSN (Y435H +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1436245	NM_198252.3(GSN):c.1253A>G (p.Tyr418Cys)	GSN (Y418C +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1772405	NM_198252.3(GSN):c.1274T>C (p.Ile425Thr)	GSN (I207T +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 364814	NM_198252.3(GSN):c.1288C>T (p.Arg430Cys)	GSN (R441C +7 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 1401099	NM_198252.3(GSN):c.1300C>T (p.Arg434Cys)	GSN (R434C +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3006021	NM_198252.3(GSN):c.1319A>G (p.Tyr440Cys)	GSN (Y222C +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2272590	NM_198252.3(GSN):c.1322A>G (p.Asn441Ser)	GSN (N223S +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3282986	NM_198252.3(GSN):c.1323C>G (p.Asn441Lys)	GSN (N449K +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2167911	NM_198252.3(GSN):c.1357G>A (p.Ala453Thr)	GSN (A235T +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1775083	NM_198252.3(GSN):c.1399G>A (p.Gly467Arg)	GSN (G475R +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 364815	NM_198252.3(GSN):c.1421G>A (p.Arg474His)	GSN (R485H +7 more)	Single nucleotide variant (missense variant)	Finnish type amyloidosis +2 more	GConflicting classifications of pathogenicity

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