C1858723[trait identifier] AND "GeneReviews"[submitter] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 496750	NM_024598.4(USB1):c.176_177del (p.Gly59fs)	USB1 (G59fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 18399	NM_024598.4(USB1):c.179del (p.Pro60fs)	USB1 (P60fs +1 more)	Deletion (frameshift variant)	Poikiloderma with neutropenia	GPathogenic
Select item 496751	NM_024598.4(USB1):c.232C>T (p.Arg78Ter)	USB1 (R78* +1 more)	Single nucleotide variant (nonsense)	Poikiloderma with neutropenia	Gnot provided
Select item 156347	NM_024598.4(USB1):c.243G>A (p.Trp81Ter)	USB1 (W81* +1 more)	Single nucleotide variant (nonsense)	Poikiloderma with neutropenia	GPathogenic
Select item 496752	NM_024598.4(USB1):c.258T>A (p.Tyr86Ter)	USB1 (Y86* +1 more)	Single nucleotide variant (nonsense)	Poikiloderma with neutropenia	Gnot provided
Select item 496753	NM_024598.4(USB1):c.265+2T>G	USB1	Single nucleotide variant (splice donor variant)	Poikiloderma with neutropenia	Gnot provided
Select item 496754	NM_024598.4(USB1):c.266-1G>A	USB1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 496755	NM_024598.4(USB1):c.267T>A (p.Tyr89Ter)	USB1 (Y89* +1 more)	Single nucleotide variant (nonsense)	Poikiloderma with neutropenia	Gnot provided
Select item 496756	NM_024598.4(USB1):c.334dup (p.Arg112fs)	USB1 (R112fs +1 more)	Duplication (frameshift variant)	Poikiloderma with neutropenia	GUncertain significance
Select item 496757	NM_024598.4(USB1):c.415C>T (p.Gln139Ter)	USB1 (Q139* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 496758	NM_024598.4(USB1):c.450-2A>G	USB1	Single nucleotide variant (splice acceptor variant +1 more)	Poikiloderma with neutropenia	Gnot provided
Select item 496761	NM_024598.4(USB1):c.489_492del (p.Asn163fs)	USB1 (N163fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 496744	NM_024598.4(USB1):c.499del (p.Thr167fs)	USB1 (T116fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 203	NM_024598.4(USB1):c.502A>G (p.Arg168Gly)	USB1 (R168G +1 more)	Single nucleotide variant (missense variant +1 more)	Poikiloderma with neutropenia	GPathogenic
Select item 201	NM_024598.4(USB1):c.504-2A>C	USB1	Single nucleotide variant (splice acceptor variant)	Poikiloderma with neutropenia	GPathogenic
Select item 496759	NM_024598.4(USB1):c.518T>G (p.Leu173Arg)	USB1 (L173R +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 496745	NM_024598.4(USB1):c.531del (p.His179fs)	USB1 (H128fs +2 more)	Deletion (frameshift variant)	Poikiloderma with neutropenia	GPathogenic
Select item 496746	NM_024598.4(USB1):c.541C>T (p.Gln181Ter)	USB1 (Q130* +2 more)	Single nucleotide variant (nonsense)	Poikiloderma with neutropenia	GPathogenic
Select item 496760	NM_024598.4(USB1):c.609+1G>A	USB1	Single nucleotide variant (splice donor variant)	Poikiloderma with neutropenia	Gnot provided
Select item 496747	NM_024598.4(USB1):c.623A>G (p.His208Arg)	USB1 (H157R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 496748	NM_024598.4(USB1):c.673C>T (p.Gln225Ter)	USB1 (Q207* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 202	NM_024598.4(USB1):c.683_693+1del	USB1	Deletion (splice donor variant)	Poikiloderma with neutropenia	GPathogenic
Select item 496749	NM_024598.4(USB1):c.693+1G>T	USB1	Single nucleotide variant (splice donor variant)	Poikiloderma with neutropenia	Gnot provided

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Items: 23