"Athena Diagnostics Inc"[submitter] AND "FUS"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 447356	NM_004960.4(FUS):c.31A>G (p.Thr11Ala)	FUS (T11A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 259594	NM_004960.4(FUS):c.147C>A (p.Gly49=)	FUS	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 259598	NM_004960.4(FUS):c.291C>T (p.Tyr97=)	FUS	Single nucleotide variant (synonymous variant +1 more)	Tremor, hereditary essential, 4 +3 more	GBenign
Select item 804815	NM_004960.4(FUS):c.317C>T (p.Pro106Leu)	FUS (P106L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 447357	NM_004960.4(FUS):c.404G>A (p.Ser135Asn)	FUS (S135N +1 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 6 +3 more	GBenign/Likely benign
Select item 1256129	NM_004960.3(FUS):c.515_523+3del	FUS	Microsatellite	FUS-related condition +4 more	GConflicting classifications of pathogenicity
Select item 318985	NM_004960.4(FUS):c.524-5C>T	FUS	Single nucleotide variant (intron variant)	FUS-related condition +3 more	GBenign/Likely benign
Select item 318986	NM_004960.4(FUS):c.669CGG[7] (p.Gly231dup)	FUS	Microsatellite (inframe_insertion +1 more)	Amyotrophic Lateral Sclerosis, Dominant +5 more	GBenign/Likely benign
Select item 804816	NM_004960.4(FUS):c.676G>A (p.Gly226Ser)	FUS (G226S +2 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 6 +3 more	GConflicting classifications of pathogenicity
Select item 447358	NM_004960.4(FUS):c.681_689del (p.Gly229_Gly231del)	FUS	Deletion (inframe_deletion +1 more)	Amyotrophic lateral sclerosis type 6 +5 more	GLikely benign
Select item 994881	NM_004960.4(FUS):c.788A>G (p.Asn263Ser)	FUS (N259S +2 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 6 +2 more	GUncertain significance
Select item 871895	NM_004960.4(FUS):c.821G>A (p.Arg274His)	FUS (R273H +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)	FUS-related condition +3 more	GBenign/Likely benign
Select item 885454	NM_004960.4(FUS):c.1168+6G>C	FUS	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 6 +2 more	GUncertain significance
Select item 447354	NM_004960.4(FUS):c.1248C>T (p.Gly416=)	FUS	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 6 +3 more	GBenign/Likely benign
Select item 37069	NM_004960.4(FUS):c.1292C>T (p.Pro431Leu)	FUS (P431L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 447355	NM_004960.4(FUS):c.1394-2del	FUS	Deletion (splice acceptor variant)	Tremor, hereditary essential, 4 +2 more	GPathogenic/Likely pathogenic
Select item 994880	NM_004960.4(FUS):c.1527C>T (p.Gly509=)	FUS	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 585886	NM_004960.4(FUS):c.1541+9_1541+10del	FUS	Deletion (intron variant)	Amyotrophic lateral sclerosis type 6 +2 more	GBenign/Likely benign
Select item 16222	NM_004960.4(FUS):c.1561C>G (p.Arg521Gly)	FUS (R521G +2 more)	Single nucleotide variant (missense variant +1 more)	FUS-related condition +3 more	GPathogenic
Select item 540280	NM_004960.4(FUS):c.1566G>A (p.Arg522=)	FUS	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 6 +3 more	GBenign/Likely benign
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 +4 more	GPathogenic

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Items: 22