"GeneDx"[submitter] AND "USB1"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1800912	NM_001330568.2(USB1):c.-55-1189C>G	LOC112469011, USB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1706949	NM_001330568.2(USB1):c.-55-1174T>G	LOC112469011, USB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1706801	NM_024598.4(USB1):c.-51G>C	LOC112469011, USB1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1326453	NM_024598.4(USB1):c.-1dup (p.Met1fs)	LOC112469011, USB1 (M1fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 403596	NM_024598.4(USB1):c.42C>A (p.Ser14=)	USB1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1237844	NM_024598.4(USB1):c.98+167A>C	USB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222815	NM_024598.4(USB1):c.98+167A>T	USB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218492	NM_024598.4(USB1):c.98+204G>C	USB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287776	NM_024598.4(USB1):c.98+220C>G	USB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1706948	NM_024598.4(USB1):c.99-183T>G	USB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1295774	NM_024598.4(USB1):c.99-36G>A	USB1	Single nucleotide variant (intron variant)	Poikiloderma with neutropenia +1 more	GBenign
Select item 1223315	NM_024598.4(USB1):c.99-34T>A	USB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233677	NM_024598.4(USB1):c.99-32A>T	USB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1028327	NM_024598.4(USB1):c.253G>A (p.Val85Ile)	USB1 (V34I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 787087	NM_024598.4(USB1):c.344G>A (p.Arg115Lys)	USB1 (R115K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1279746	NM_024598.4(USB1):c.449+290dup	USB1	Duplication (intron variant)	not provided	GBenign
Select item 1283049	NM_024598.4(USB1):c.449+578C>T	USB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289620	NM_024598.4(USB1):c.449+650T>C	USB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279006	NM_024598.4(USB1):c.449+692T>C	USB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232184	NM_024598.4(USB1):c.450-35C>T	USB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1707128	NM_024598.4(USB1):c.450-34G>A	USB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1222737	NM_024598.4(USB1):c.504-326G>A	USB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295859	NM_024598.4(USB1):c.504-60C>T	USB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 784580	NM_024598.4(USB1):c.512T>C (p.Ile171Thr)	USB1 (I120T +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1165803	NM_024598.4(USB1):c.693+15C>T	USB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277774	NM_024598.4(USB1):c.693+202C>T	USB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231257	NM_024598.4(USB1):c.694-315G>T	USB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196799	NM_024598.4(USB1):c.694-224T>G	USB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1263375	NM_024598.4(USB1):c.694-114G>A	USB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 403597	NM_024598.4(USB1):c.748C>G (p.Gln250Glu)	USB1 (Q250E +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 1213566	NM_024598.4(USB1):c.302_303del	USB1	Deletion (3 prime UTR variant)	not provided	GLikely benign
Select item 1228597	NM_024598.4(USB1):c.309_319del	USB1	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 212550	NM_024598.4(USB1):c.*317CT[5]	USB1	Microsatellite (3 prime UTR variant)	not specified +1 more	GBenign/Likely benign

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Items: 33