"GeneDx"[submitter] AND "GSN"[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1244182	NM_198252.3(GSN):c.-10+1155C>T	GSN, GSN-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1257589	NM_198252.3(GSN):c.-10+4288C>T	GSN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279715	NM_198252.3(GSN):c.-10+4458G>A	GSN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267128	NM_198252.3(GSN):c.-10+4621T>C	GSN, LOC126860753 (W14R)	Single nucleotide variant (intron variant +2 more)	not provided	GBenign
Select item 1287428	NM_198252.3(GSN):c.-10+4781A>G	GSN, LOC126860753	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283963	NM_198252.3(GSN):c.-9-2406C>T	GSN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232437	NM_198252.3(GSN):c.-9-2339C>T	GSN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255271	NM_198252.3(GSN):c.-9-2278G>A	GSN	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 2503175	NM_198252.3(GSN):c.-9-2101_-9-2095del	GSN (M1fs)	Deletion (frameshift variant +2 more)	not provided	GUncertain significance
Select item 632532	NM_198252.3(GSN):c.-9-2066_-9-2060del	GSN (A13fs)	Deletion (frameshift variant +1 more)	Finnish type amyloidosis +1 more	GUncertain significance
Select item 1179841	NM_198252.3(GSN):c.-9-185C>G	GSN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 364796	NM_198252.3(GSN):c.29A>G (p.Lys10Arg)	GSN (K21R +6 more)	Single nucleotide variant (missense variant +1 more)	Finnish type amyloidosis +1 more	GBenign
Select item 512121	NM_198252.3(GSN):c.227C>T (p.Ala76Val)	GSN (A127V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 364800	NM_198252.3(GSN):c.232G>A (p.Ala78Thr)	GSN (A129T +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1277547	NM_198252.3(GSN):c.351+173G>A	GSN	Single nucleotide variant (intron variant)	not provided	GBenign
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 1233285	NM_198252.3(GSN):c.513+53T>C	GSN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178504	NM_198252.3(GSN):c.514-197G>A	GSN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1313601	NM_198252.3(GSN):c.524A>G (p.Gln175Arg)	GSN (Q175R +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1307492	NM_198252.3(GSN):c.614C>A (p.Ala205Asp)	GSN (A205D +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1253926	NM_198252.3(GSN):c.663+25T>G	GSN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246509	NM_198252.3(GSN):c.663+199G>C	GSN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236730	NM_198252.3(GSN):c.664-196G>A	GSN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246307	NM_198252.3(GSN):c.753+28G>A	GSN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248689	NM_198252.3(GSN):c.975+43G>C	GSN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229169	NM_198252.3(GSN):c.1192-126G>A	GSN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234096	NM_198252.3(GSN):c.1192-75C>T	GSN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 364813	NM_198252.3(GSN):c.1260C>T (p.Gly420=)	GSN	Single nucleotide variant (synonymous variant)	Finnish type amyloidosis +1 more	GBenign
Select item 3372130	NM_198252.3(GSN):c.1359dup (p.Ala454fs)	GSN (A236fs +7 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1257898	NM_198252.3(GSN):c.1416+108TCCA[12]	GSN	Microsatellite (intron variant)	not provided	GBenign
Select item 1263776	NM_198252.3(GSN):c.1416+108TCCA[10]	GSN	Microsatellite (intron variant)	not provided	GBenign
Select item 1257902	NM_198252.3(GSN):c.1416+108TCCA[9]	GSN	Microsatellite (intron variant)	not provided	GBenign
Select item 1243256	NM_198252.3(GSN):c.1417-59A>G	GSN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280687	NM_198252.3(GSN):c.1417-22T>C	GSN	Single nucleotide variant (intron variant)	Finnish type amyloidosis +1 more	GBenign
Select item 1315330	NM_198252.3(GSN):c.1423G>A (p.Val475Met)	GSN (V257M +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1809883	NM_198252.3(GSN):c.1573dup (p.Thr525fs)	GSN (T307fs +7 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1223375	NM_198252.3(GSN):c.1587+46A>G	GSN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220950	NM_198252.3(GSN):c.1588-77del	GSN	Deletion (intron variant)	not provided	GBenign
Select item 1250813	NM_198252.3(GSN):c.1588-76G>T	GSN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 364824	NM_198252.3(GSN):c.1694C>T (p.Thr565Met)	GSN (T576M +7 more)	Single nucleotide variant (missense variant)	Finnish type amyloidosis +1 more	GBenign
Select item 2528791	NM_198252.3(GSN):c.1723C>T (p.Arg575Trp)	GSN (R575W +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1251089	NM_198252.3(GSN):c.1763-34G>A	GSN	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1246587	NM_198252.3(GSN):c.1965+192G>A	GSN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235874	NM_198252.3(GSN):c.2026+36T>C	GSN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260638	NM_198252.3(GSN):c.2027-122A>T	GSN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 432888	NM_198252.3(GSN):c.2054C>G (p.Ala685Gly)	GSN (A696G +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 364830	NM_198252.3(GSN):c.2115T>C (p.Phe705=)	GSN	Single nucleotide variant (synonymous variant)	Finnish type amyloidosis +1 more	GBenign
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 48