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

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Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 151637	GRCh38/hg38 16p12.1-11.2(chr16:27311746-31193406)x3	ZNF747, ZNF747-DT +378 more	Copy number gain	See cases	GPathogenic
Select item 146013	GRCh38/hg38 16p11.2(chr16:29909613-31438697)x3	LOC130058889, LOC130058890 +207 more	Copy number gain	See cases	GPathogenic
Select item 1201317	NC_000016.10:g.31180051C>T	FUS	Single nucleotide variant	not provided	GLikely benign
Select item 318979	NM_004960.4(FUS):c.-54A>G	FUS	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 887473	NM_004960.4(FUS):c.-47G>A	FUS	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 318982	NM_004960.4(FUS):c.-39A>G	FUS	Single nucleotide variant (5 prime UTR variant +1 more)	Amyotrophic lateral sclerosis type 6 +1 more	GBenign/Likely benign
Select item 704955	NM_004960.4(FUS):c.132C>T (p.Ser44=)	FUS	Single nucleotide variant (synonymous variant +1 more)	Tremor, hereditary essential, 4 +3 more	GBenign/Likely benign
Select item 259594	NM_004960.4(FUS):c.147C>A (p.Gly49=)	FUS	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign
Select item 259595	NM_004960.4(FUS):c.153C>T (p.Gly51=)	FUS	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 1213403	NM_004960.4(FUS):c.167CTT[1] (p.Ser57del)	FUS (S57del)	Microsatellite (inframe_deletion +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 259596	NM_004960.4(FUS):c.190+9T>C	FUS	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 1189075	NM_004960.4(FUS):c.190+173C>G	FUS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1239588	NM_004960.4(FUS):c.190+197T>C	FUS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201681	NM_004960.4(FUS):c.190+216C>T	FUS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198528	NM_004960.4(FUS):c.190+241G>A	FUS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203951	NM_004960.4(FUS):c.190+251C>T	FUS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187752	NM_004960.4(FUS):c.190+261A>C	FUS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194586	NM_004960.4(FUS):c.191-23C>G	FUS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 450106	NM_004960.4(FUS):c.217C>T (p.Gln73Ter)	FUS (Q73* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 704278	NM_004960.4(FUS):c.273C>T (p.Tyr91=)	FUS	Single nucleotide variant (synonymous variant +1 more)	Tremor, hereditary essential, 4 +3 more	GBenign/Likely benign
Select item 259598	NM_004960.4(FUS):c.291C>T (p.Tyr97=)	FUS	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 6 +3 more	GBenign
Select item 1695511	NM_004960.4(FUS):c.455C>T (p.Pro152Leu)	FUS (P151L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 766876	NM_004960.3(FUS):c.521_523+3dupGAGGTG	FUS	Microsatellite	not provided +3 more	GBenign/Likely benign
Select item 1256129	NM_004960.3(FUS):c.515_523+3del	FUS	Microsatellite	not provided +5 more	GConflicting classifications of pathogenicity
Select item 540281	NM_004960.4(FUS):c.518_523del	FUS	Microsatellite (splice donor variant)	not provided +2 more	GBenign
Select item 1295926	NM_004960.4(FUS):c.523+22C>T	FUS	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1295730	NM_004960.4(FUS):c.523+59dup	FUS	Duplication (intron variant)	not provided	GBenign
Select item 1270494	NM_004960.4(FUS):c.523+42C>T	FUS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247590	NM_004960.4(FUS):c.523+59del	FUS	Deletion (intron variant)	not provided	GBenign
Select item 1258403	NM_004960.4(FUS):c.523+48T>C	FUS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1318646	NM_004960.4(FUS):c.523+112A>G	FUS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195860	NM_004960.4(FUS):c.523+172C>T	FUS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1199757	NM_004960.4(FUS):c.523+248C>G	FUS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1293275	NM_004960.4(FUS):c.524-155T>C	FUS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251703	NM_004960.4(FUS):c.524-112_524-102del	FUS	Deletion (intron variant)	not provided	GBenign
Select item 259599	NM_004960.4(FUS):c.524-21T>C	FUS	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 318985	NM_004960.4(FUS):c.524-5C>T	FUS	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 6 +2 more	GBenign/Likely benign
Select item 1318851	NM_004960.4(FUS):c.595C>G (p.Gln199Glu)	FUS (Q195E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 540284	NM_004960.4(FUS):c.636C>T (p.Asp212=)	FUS	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 16227	NM_004960.4(FUS):c.646C>T (p.Arg216Cys)	FUS (R216C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 503718	NM_004960.4(FUS):c.661_663del (p.Ser221del)	FUS (S221del +2 more)	Deletion (inframe_deletion +1 more)	Amyotrophic lateral sclerosis type 6 +3 more	GConflicting classifications of pathogenicity
Select item 1415706	NM_004960.4(FUS):c.669CGG[9] (p.Gly229_Gly231dup)	FUS	Microsatellite (inframe_insertion +1 more)	Amyotrophic lateral sclerosis type 6 +3 more	GConflicting classifications of pathogenicity
Select item 969442	NM_004960.4(FUS):c.669CGG[2] (p.Gly228_Gly231del)	FUS	Microsatellite (inframe_deletion +1 more)	Amyotrophic lateral sclerosis type 6 +2 more	GUncertain significance
Select item 704279	NM_004960.4(FUS):c.669CGG[4] (p.Gly230_Gly231del)	FUS	Microsatellite (inframe_deletion +1 more)	Inborn genetic diseases +3 more	GLikely benign
Select item 705951	NM_004960.4(FUS):c.675C>T (p.Gly225=)	FUS	Single nucleotide variant (synonymous variant +1 more)	Tremor, hereditary essential, 4 +3 more	GBenign/Likely benign
Select item 1077589	NM_004960.4(FUS):c.684_692del (p.Gly229_Gly231del)	FUS	Deletion (inframe_deletion +1 more)	Amyotrophic lateral sclerosis type 6 +3 more	GConflicting classifications of pathogenicity
Select item 654997	NM_004960.4(FUS):c.685GGT[6] (p.Gly229_Gly231dup)	FUS	Microsatellite (inframe_insertion +1 more)	Amyotrophic lateral sclerosis type 6 +3 more	GConflicting classifications of pathogenicity
Select item 3367328	NM_004960.4(FUS):c.709G>A (p.Gly237Ser)	FUS (G233S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 427141	NM_004960.4(FUS):c.760A>G (p.Met254Val)	FUS (M254V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 318987	NM_004960.4(FUS):c.764+12A>C	FUS	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 6 +2 more	GBenign
Select item 1274030	NM_004960.4(FUS):c.765-25C>T	FUS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231946	NM_004960.4(FUS):c.799+179G>C	FUS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212742	NM_004960.4(FUS):c.800-275C>G	FUS	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1293274	NM_004960.4(FUS):c.800-247G>T	FUS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286509	NM_004960.4(FUS):c.800-26dup	FUS	Duplication (intron variant)	not provided	GBenign
Select item 1328656	NM_004960.4(FUS):c.832+46C>G	FUS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247717	NM_004960.4(FUS):c.832+221G>T	FUS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1201558	NM_004960.4(FUS):c.833-284A>T	FUS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208458	NM_004960.4(FUS):c.833-242G>T	FUS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204463	NM_004960.4(FUS):c.833-43A>G	FUS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218785	NM_004960.4(FUS):c.833-29C>T	FUS	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1762973	NM_004960.4(FUS):c.833-6A>G	FUS	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 6 +3 more	GUncertain significance
Select item 2501462	NM_004960.4(FUS):c.838G>A (p.Asp280Asn)	FUS (D276N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1320885	NM_004960.4(FUS):c.940A>G (p.Asn314Asp)	FUS (N310D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3373199	NM_004960.4(FUS):c.980_983del (p.Asp327fs)	FUS (D323fs +2 more)	Microsatellite (frameshift variant +1 more)	not provided	GUncertain significance
Select item 817574	NM_004960.4(FUS):c.1022_1023del (p.Ser340_Phe341insTer)	FUS	Deletion (nonsense +1 more)	not provided	GPathogenic
Select item 1281612	NM_004960.4(FUS):c.1067-52G>A	FUS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2428860	NM_004960.4(FUS):c.1130G>T (p.Arg377Leu)	FUS (R373L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 423639	NM_004960.4(FUS):c.1142A>G (p.Asn381Ser)	FUS (N381S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 318990	NM_004960.4(FUS):c.1156C>A (p.Arg386=)	FUS	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 6 +2 more	GBenign/Likely benign
Select item 2430433	NM_004960.4(FUS):c.1211G>T (p.Gly404Val)	FUS (G400V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 430234	NM_004960.4(FUS):c.1376C>T (p.Pro459Leu)	FUS (P459L +2 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 6 +2 more	GUncertain significance
Select item 1189317	NM_004960.4(FUS):c.1393+34G>T	FUS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 280356	NM_004960.4(FUS):c.1504_1505del (p.Asp502fs)	FUS (D501fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 280602	NM_004960.4(FUS):c.1510_1514dup (p.Phe506fs)	FUS (F505fs +2 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 1236086	NM_004960.4(FUS):c.1541+125A>T	FUS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204289	NM_004960.4(FUS):c.1542-97G>T	FUS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200398	NM_004960.4(FUS):c.1542-5dup	FUS	Duplication (intron variant)	not provided	GLikely benign
Select item 1182870	NM_004960.4(FUS):c.1542-5del	FUS	Deletion (intron variant)	not provided	GLikely benign
Select item 427191	NM_004960.4(FUS):c.1550A>G (p.His517Arg)	FUS (H517R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 540280	NM_004960.4(FUS):c.1566G>A (p.Arg522=)	FUS	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 280109	NM_004960.4(FUS):c.1572G>C (p.Arg524Ser)	FUS (R524S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 280110	NM_004960.4(FUS):c.1574C>T (p.Pro525Leu)	FUS (P525L +2 more)	Single nucleotide variant (missense variant +1 more)	Juvenile amyotrophic lateral sclerosis +3 more	GPathogenic
Select item 1315606	NM_004960.4(FUS):c.*59G>A	FUS	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 886476	NM_004960.4(FUS):c.*132C>A	FUS	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GLikely benign
Select item 318995	NM_004960.3(FUS):c.*214C>T	FUS	Single nucleotide variant (3 prime UTR variant +1 more)	Amyotrophic lateral sclerosis type 6 +1 more	GBenign

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Items: 87