ClinVar for Gene (Select 79650) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3581124	NM_024598.4(USB1):c.17del (p.Leu6fs)	LOC112469011, USB1 (L6fs)	Deletion (frameshift variant +1 more)	Poikiloderma with neutropenia	GUncertain significance
Select item 3466499	NM_024598.4(USB1):c.36C>G (p.Ser12Arg)	LOC112469011, USB1 (S12R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3466498	NM_024598.4(USB1):c.478A>T (p.Ile160Phe)	USB1 (I160F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3466496	NM_024598.4(USB1):c.434T>C (p.Met145Thr)	USB1 (M145T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3466495	NM_024598.4(USB1):c.345G>A (p.Arg115=)	USB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3466494	NM_024598.4(USB1):c.22G>T (p.Gly8Cys)	LOC112469011, USB1 (G8C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3466493	NM_024598.4(USB1):c.615T>C (p.Pro205=)	USB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3466492	NM_024598.4(USB1):c.94C>T (p.Arg32Cys)	LOC130059131, USB1 (R32C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3466491	NM_024598.4(USB1):c.162G>C (p.Pro54=)	USB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3466490	NM_024598.4(USB1):c.430C>T (p.Arg144Cys)	USB1 (R93C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3466489	NM_024598.4(USB1):c.288G>A (p.Leu96=)	USB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3466488	NM_024598.4(USB1):c.155T>C (p.Met52Thr)	USB1 (M1T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3466486	NM_024598.4(USB1):c.670G>T (p.Gly224Trp)	USB1 (G173W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3466485	NM_024598.4(USB1):c.582G>A (p.Glu194=)	USB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3466484	NM_024598.4(USB1):c.389G>A (p.Arg130His)	USB1 (R79H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3466483	NM_024598.4(USB1):c.507C>G (p.Thr169=)	USB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3466482	NM_024598.4(USB1):c.218C>T (p.Thr73Ile)	USB1 (T73I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3466479	NM_024598.4(USB1):c.332C>G (p.Pro111Arg)	USB1 (P111R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3466478	NM_024598.4(USB1):c.446A>G (p.His149Arg)	USB1 (H149R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3466477	NM_024598.4(USB1):c.31A>T (p.Ser11Cys)	LOC112469011, USB1 (S11C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3466476	NM_024598.4(USB1):c.510T>C (p.Phe170=)	USB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3466475	NM_024598.4(USB1):c.177G>T (p.Gly59=)	USB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3466474	NM_024598.4(USB1):c.787C>G (p.Pro263Ala)	USB1 (P263A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3466473	NM_024598.4(USB1):c.392A>G (p.His131Arg)	USB1 (H131R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3466472	NM_024598.4(USB1):c.547C>G (p.Leu183Val)	USB1 (L165V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3466470	NM_024598.4(USB1):c.419C>T (p.Ala140Val)	USB1 (A140V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3466469	NM_024598.4(USB1):c.89G>A (p.Ser30Asn)	LOC130059131, USB1 (S30N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3466468	NM_024598.4(USB1):c.324A>G (p.Thr108=)	USB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3466467	NM_024598.4(USB1):c.776T>C (p.Phe259Ser)	USB1 (F208S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3466465	NM_024598.4(USB1):c.592C>G (p.Leu198Val)	USB1 (L147V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3466464	NM_024598.4(USB1):c.777C>A (p.Phe259Leu)	USB1 (F241L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3466462	NM_024598.4(USB1):c.65T>A (p.Met22Lys)	LOC130059131, USB1 (M22K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3466461	NM_024598.4(USB1):c.62G>A (p.Gly21Glu)	USB1 (G21E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3331254	NM_024598.4(USB1):c.8C>T (p.Ala3Val)	LOC112469011, USB1 (A3V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3255478	NC_000016.9:g.(?_48799549)_(70756330_?)dup	PRMT7, PRSS54 +195 more	Duplication	Chromosome 16q12 duplication syndrome	GLikely pathogenic
Select item 3187009	NM_024598.4(USB1):c.723G>C (p.Glu241Asp)	USB1 (E223D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3187008	NM_024598.4(USB1):c.568G>A (p.Asp190Asn)	USB1 (D139N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063467	GRCh37/hg19 16q12.2-22.1(chr16:55329260-67180113)x1	ADGRG1, ADGRG3 +85 more	Copy number loss	not specified	GPathogenic
Select item 3061629	NM_024598.4(USB1):c.504-3del	USB1	Deletion (intron variant)	USB1-related disorder	GLikely benign
Select item 3016998	NM_024598.4(USB1):c.99-12T>C	USB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3015889	NM_024598.4(USB1):c.352G>A (p.Val118Met)	USB1 (V118M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3014148	NM_024598.4(USB1):c.503+10C>T	USB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3013305	NM_024598.4(USB1):c.99-4G>A	USB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005235	NM_024598.4(USB1):c.730C>T (p.Leu244=)	USB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3003407	NM_024598.4(USB1):c.490C>A (p.Gln164Lys)	USB1 (Q113K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3003071	NM_024598.4(USB1):c.257A>G (p.Tyr86Cys)	USB1 (Y35C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2994912	NM_024598.4(USB1):c.610-16T>C	USB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994465	NM_024598.4(USB1):c.437CCT[1] (p.Ser147del)	USB1 (S147del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2986253	NM_024598.4(USB1):c.461C>T (p.Thr154Ile)	USB1 (T103I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2975490	NM_024598.4(USB1):c.504-11C>T	USB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959696	NM_024598.4(USB1):c.610-14G>A	USB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955707	NM_024598.4(USB1):c.694-5T>C	USB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2918522	NM_024598.4(USB1):c.725T>C (p.Val242Ala)	USB1 (V242A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2906301	NM_024598.4(USB1):c.347T>G (p.Met116Arg)	USB1 (M116R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2902333	NM_024598.4(USB1):c.150G>A (p.Leu50=)	USB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2901207	NM_024598.4(USB1):c.499A>G (p.Thr167Ala)	USB1 (T116A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2896891	NM_024598.4(USB1):c.583G>A (p.Glu195Lys)	USB1 (E144K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2895678	NM_024598.4(USB1):c.351G>A (p.Lys117=)	USB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895146	NM_024598.4(USB1):c.378T>C (p.Ser126=)	USB1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2894221	NM_024598.4(USB1):c.636C>T (p.Ala212=)	USB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2892131	NM_024598.4(USB1):c.266-10T>C	USB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2890533	NM_024598.4(USB1):c.726G>A (p.Val242=)	USB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2890125	NM_024598.4(USB1):c.205G>A (p.Gly69Arg)	USB1 (G18R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2889531	NM_024598.4(USB1):c.599C>G (p.Thr200Ser)	USB1 (T200S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2888512	NM_024598.4(USB1):c.504-12T>C	USB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2862101	NM_024598.4(USB1):c.503+5dup	USB1	Duplication (intron variant)	not provided	GUncertain significance
Select item 2861321	NM_024598.4(USB1):c.358C>T (p.His120Tyr)	USB1 (H120Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2836426	NM_024598.4(USB1):c.405C>T (p.Leu135=)	USB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2823967	NM_024598.4(USB1):c.449+19_449+40dup	USB1	Duplication (intron variant)	not provided	GLikely benign
Select item 2792637	NM_024598.4(USB1):c.449+12T>C	USB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2742456	NM_024598.4(USB1):c.694-14G>A	USB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2739350	NM_024598.4(USB1):c.372C>T (p.Ser124=)	USB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2721301	NM_024598.4(USB1):c.75G>A (p.Arg25=)	LOC130059131, USB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2718955	NM_024598.4(USB1):c.306G>C (p.Leu102Phe)	USB1 (L102F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2683370	NM_024598.4(USB1):c.79G>A (p.Gly27Arg)	LOC130059131, USB1 (G27R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2646568	NM_024598.4(USB1):c.450-1939A>G	USB1 (M155V)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2483187	NM_024598.4(USB1):c.788C>T (p.Pro263Leu)	USB1 (P263L +2 more)	Single nucleotide variant (missense variant)	Poikiloderma with neutropenia +1 more	GUncertain significance
Select item 2426846	NC_000016.9:g.(?_57016057)_(58768132_?)del	NLRC5, PLLP +34 more	Deletion	not provided	GPathogenic
Select item 2426640	NC_000016.9:g.(?_56226148)_(58768132_?)del	ADGRG1, ADGRG3 +54 more	Deletion	Bardet-Biedl syndrome +1 more	GPathogenic
Select item 2420455	NM_024598.4(USB1):c.503+4G>C	USB1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2417047	NM_024598.4(USB1):c.785T>C (p.Met262Thr)	USB1 (M211T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2201060	NM_024598.4(USB1):c.795G>A (p.Lys265=)	USB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2195987	NM_024598.4(USB1):c.755G>A (p.Arg252His)	USB1 (R252H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2193474	NM_024598.4(USB1):c.503+7C>T	USB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2193144	NM_024598.4(USB1):c.412G>A (p.Val138Met)	USB1 (V138M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2190624	NM_024598.4(USB1):c.6C>T (p.Ser2=)	LOC112469011, USB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2188344	NM_024598.4(USB1):c.765T>C (p.Ser255=)	USB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2187340	NM_024598.4(USB1):c.472G>C (p.Val158Leu)	USB1 (V107L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2185100	NM_024598.4(USB1):c.449+5G>C	USB1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2182373	NM_024598.4(USB1):c.503+1G>A	USB1	Single nucleotide variant (splice donor variant +1 more)	not provided	GLikely pathogenic
Select item 2180235	NM_024598.4(USB1):c.652G>A (p.Ala218Thr)	USB1 (A200T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2175496	NM_024598.4(USB1):c.610-4C>T	USB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2175179	NM_024598.4(USB1):c.18G>A (p.Leu6=)	LOC112469011, USB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2174574	NM_024598.4(USB1):c.783G>C (p.Ser261=)	USB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2174022	NM_024598.4(USB1):c.168C>T (p.Thr56=)	USB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2172610	NM_024598.4(USB1):c.431G>A (p.Arg144His)	USB1 (R144H +1 more)	Single nucleotide variant (missense variant)	Poikiloderma with neutropenia +2 more	GUncertain significance
Select item 2171118	NM_024598.4(USB1):c.229G>A (p.Glu77Lys)	USB1 (E26K +1 more)	Single nucleotide variant (missense variant)	Poikiloderma with neutropenia +1 more	GUncertain significance
Select item 2171111	NM_024598.4(USB1):c.449+15C>T	USB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2170559	NM_024598.4(USB1):c.61G>C (p.Gly21Arg)	USB1 (G21R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2170362	NM_024598.4(USB1):c.258T>C (p.Tyr86=)	USB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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