ClinVar for MedGen (Select 388129) - ClinVar

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Items: 37

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 15976791.	NM_024598.4(USB1):c.387G>C (p.Leu129=) GRCh37: Chr16:58043954 GRCh38: Chr16:58010050	USB1		Poikiloderma with neutropenia, not provided	Likely benign (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 15635022.	NM_024598.4(USB1):c.111C>T (p.Pro37=) GRCh37: Chr16:58036395 GRCh38: Chr16:58002491	USB1		Poikiloderma with neutropenia, not provided	Likely benign (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14449213.	NM_024598.4(USB1):c.1A>G (p.Met1Val) GRCh37: Chr16:58035388 GRCh38: Chr16:58001484	LOC112469011, USB1	M1V	Poikiloderma with neutropenia, not provided	Uncertain significance (Apr 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13262604.	NM_024598.3:c.334dup	USB1		Poikiloderma with neutropenia	Pathogenic (Nov 29, 2021)	no assertion criteria provided
Select item 12957745.	NM_024598.4(USB1):c.99-36G>A GRCh37: Chr16:58036347 GRCh38: Chr16:58002443	USB1		Poikiloderma with neutropenia, not provided	Benign (Dec 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 10718796.	NM_024598.4(USB1):c.63del (p.Met22fs) GRCh37: Chr16:58035448 GRCh38: Chr16:58001544	USB1	M22fs	not provided, Poikiloderma with neutropenia	Pathogenic/Likely pathogenic (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10321817.	NM_024598.4(USB1):c.796T>G (p.Ter266Gly) GRCh37: Chr16:58054147 GRCh38: Chr16:58020243	USB1		Poikiloderma with neutropenia	Uncertain significance (Feb 6, 2018)	criteria provided, single submitter
Select item 10283278.	NM_024598.4(USB1):c.253G>A (p.Val85Ile) GRCh37: Chr16:58036537 GRCh38: Chr16:58002633	USB1	V34I, V85I	not provided, Poikiloderma with neutropenia	Uncertain significance (Sep 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10136739.	NM_024598.4(USB1):c.209G>A (p.Arg70Gln) GRCh37: Chr16:58036493 GRCh38: Chr16:58002589	USB1	R19Q, R70Q	Poikiloderma with neutropenia, not provided	Uncertain significance (Dec 25, 2021)	criteria provided, multiple submitters, no conflicts
Select item 93328010.	NM_024598.4(USB1):c.784A>G (p.Met262Val) GRCh37: Chr16:58054135 GRCh38: Chr16:58020231	USB1	M262V, M211V, M244V	not specified, not provided	Uncertain significance (Oct 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 80095811.	NM_024598.4(USB1):c.370T>C (p.Ser124Pro) GRCh37: Chr16:58043937 GRCh38: Chr16:58010033	USB1	S124P, S73P	Poikiloderma with neutropenia	Likely pathogenic (Sep 26, 2019)	no assertion criteria provided
Select item 78458012.	NM_024598.4(USB1):c.512T>C (p.Ile171Thr) GRCh37: Chr16:58051246 GRCh38: Chr16:58017342	USB1	I120T, I153T, I171T	not provided	Conflicting interpretations of pathogenicity (Oct 27, 2022)	criteria provided, conflicting interpretations
Select item 62604313.	NM_024598.4(USB1):c.641G>A (p.Cys214Tyr) GRCh37: Chr16:58052907 GRCh38: Chr16:58019003	USB1	C214Y, C163Y, C196Y	not specified, not provided, Poikiloderma with neutropenia	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 55987314.	NM_024598.4(USB1):c.345del (p.Arg115_Met116insTer) GRCh37: Chr16:58043911 GRCh38: Chr16:58010007	USB1		Poikiloderma with neutropenia	Likely pathogenic (Dec 8, 2016)	criteria provided, single submitter
Select item 49676115.	NM_024598.4(USB1):c.489_492del (p.Asn163fs) GRCh37: Chr16:58048213-58048216 GRCh38: Chr16:58014309-58014312	USB1	N163fs, N112fs	not provided	Pathogenic (Nov 1, 2021)	criteria provided, single submitter
Select item 49676016.	NM_024598.4(USB1):c.609+1G>A GRCh37: Chr16:58051344 GRCh38: Chr16:58017440	USB1		Poikiloderma with neutropenia	not provided	no assertion provided
Select item 49675917.	NM_024598.4(USB1):c.518T>G (p.Leu173Arg) GRCh37: Chr16:58051252 GRCh38: Chr16:58017348	USB1	L173R, L122R, L155R	not provided	Likely pathogenic (Jul 28, 2022)	criteria provided, single submitter
Select item 49675818.	NM_024598.4(USB1):c.450-2A>G GRCh37: Chr16:58048175 GRCh38: Chr16:58014271	USB1		Poikiloderma with neutropenia	not provided	no assertion provided
Select item 49675719.	NM_024598.4(USB1):c.415C>T (p.Gln139Ter) GRCh37: Chr16:58043982 GRCh38: Chr16:58010078	USB1	Q139, Q88	Poikiloderma with neutropenia	not provided	no assertion provided
Select item 49675620.	NM_024598.4(USB1):c.334dup (p.Arg112fs) GRCh37: Chr16:58043896-58043897 GRCh38: Chr16:58009992-58009993	USB1	R112fs, R61fs	Poikiloderma with neutropenia	not provided	no assertion provided
Select item 49675521.	NM_024598.4(USB1):c.267T>A (p.Tyr89Ter) GRCh37: Chr16:58043834 GRCh38: Chr16:58009930	USB1	Y89, Y38	Poikiloderma with neutropenia	not provided	no assertion provided
Select item 49675422.	NM_024598.4(USB1):c.266-1G>A GRCh37: Chr16:58043832 GRCh38: Chr16:58009928	USB1		not provided	Pathogenic (Jun 13, 2020)	criteria provided, single submitter
Select item 49675323.	NM_024598.4(USB1):c.265+2T>G GRCh37: Chr16:58036551 GRCh38: Chr16:58002647	USB1		Poikiloderma with neutropenia	not provided	no assertion provided
Select item 49675224.	NM_024598.4(USB1):c.258T>A (p.Tyr86Ter) GRCh37: Chr16:58036542 GRCh38: Chr16:58002638	USB1	Y86, Y35	Poikiloderma with neutropenia	not provided	no assertion provided
Select item 49675125.	NM_024598.4(USB1):c.232C>T (p.Arg78Ter) GRCh37: Chr16:58036516 GRCh38: Chr16:58002612	USB1	R78, R27	Poikiloderma with neutropenia	not provided	no assertion provided
Select item 49675026.	NM_024598.4(USB1):c.176_177del (p.Gly59fs) GRCh37: Chr16:58036458-58036459 GRCh38: Chr16:58002554-58002555	USB1	G59fs, G8fs	not provided	Pathogenic (Aug 8, 2021)	criteria provided, single submitter
Select item 49674927.	NM_024598.4(USB1):c.693+1G>T GRCh37: Chr16:58052960 GRCh38: Chr16:58019056	USB1		Poikiloderma with neutropenia	not provided	no assertion provided
Select item 49674828.	NM_024598.4(USB1):c.673C>T (p.Gln225Ter) GRCh37: Chr16:58052939 GRCh38: Chr16:58019035	USB1	Q207, Q174, Q225*	not provided	Pathogenic (Sep 27, 2022)	criteria provided, single submitter
Select item 49674729.	NM_024598.4(USB1):c.623A>G (p.His208Arg) GRCh37: Chr16:58052889 GRCh38: Chr16:58018985	USB1	H157R, H190R, H208R	not provided, Poikiloderma with neutropenia	Likely pathogenic (Jul 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 49674630.	NM_024598.4(USB1):c.541C>T (p.Gln181Ter) GRCh37: Chr16:58051275 GRCh38: Chr16:58017371	USB1	Q130, Q181, Q163*	Poikiloderma with neutropenia	Pathogenic (Dec 20, 2021)	no assertion criteria provided
Select item 49674531.	NM_024598.4(USB1):c.531del (p.His179fs) GRCh37: Chr16:58051265 GRCh38: Chr16:58017361	USB1	H128fs, H161fs, H179fs	Poikiloderma with neutropenia	Pathogenic (Dec 20, 2021)	no assertion criteria provided
Select item 49674432.	NM_024598.4(USB1):c.499del (p.Thr167fs) GRCh37: Chr16:58048223 GRCh38: Chr16:58014319	USB1	T116fs, T167fs	Poikiloderma with neutropenia	Pathogenic (Oct 20, 2021)	no assertion criteria provided
Select item 15634733.	NM_024598.4(USB1):c.243G>A (p.Trp81Ter) GRCh37: Chr16:58036527 GRCh38: Chr16:58002623	USB1	W81, W30	Poikiloderma with neutropenia	Pathogenic (Oct 1, 2010)	no assertion criteria provided
Select item 1839934.	NM_024598.4(USB1):c.179del (p.Pro60fs) GRCh37: Chr16:58036462 GRCh38: Chr16:58002558	USB1	P60fs, P9fs	Poikiloderma with neutropenia	Pathogenic (Jun 1, 2010)	no assertion criteria provided
Select item 20335.	NM_024598.4(USB1):c.502A>G (p.Arg168Gly) GRCh37: Chr16:58048229 GRCh38: Chr16:58014325	USB1	R168G, R117G	Poikiloderma with neutropenia	Pathogenic (Jan 1, 2010)	no assertion criteria provided
Select item 20236.	NM_024598.4(USB1):c.683_693+1del GRCh37: Chr16:58052949-58052960 GRCh38: Chr16:58019045-58019056	USB1		Poikiloderma with neutropenia	Pathogenic (Jan 1, 2010)	no assertion criteria provided
Select item 20137.	NM_024598.4(USB1):c.504-2A>C GRCh37: Chr16:58051236 GRCh38: Chr16:58017332	USB1		Poikiloderma with neutropenia	Pathogenic (Jan 1, 2010)	no assertion criteria provided

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Items: 37