Related gene-specific medical variations for Gene (Select 7874) - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064825	NM_003470.3(USP7):c.999G>C (p.Gln333His)	USP7 (Q234H +3 more)	Single nucleotide variant (missense variant +1 more)	Hao-Fountain syndrome	GUncertain significance
Select item 3019160	NM_003470.3(USP7):c.10CAG[9] (p.Gln10_Lys11insGlnGln)	USP7, USP7-AS1	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2796208	NM_003470.3(USP7):c.79+9C>G	USP7, USP7-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2743298	NM_003470.3(USP7):c.66C>T (p.Asp22=)	USP7, USP7-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2708059	NM_003470.3(USP7):c.37G>A (p.Gly13Ser)	USP7, USP7-AS1 (G13S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683345	NM_003470.3(USP7):c.62A>G (p.Glu21Gly)	USP7, USP7-AS1 (E21G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2672615	NC_000016.10:g.8975163G>A	USP7	Single nucleotide variant	not provided	GUncertain significance
Select item 2646184	NM_001395433.1(LITAFD):c.163G>T (p.Val55Leu)	LITAFD, USP7 (V55L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2581988	NM_003470.3(USP7):c.8A>G (p.His3Arg)	USP7, USP7-AS1 (H3R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572898	NM_003470.3(USP7):c.34G>A (p.Ala12Thr)	USP7, USP7-AS1 (A12T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2570929	NM_003470.3(USP7):c.67A>G (p.Met23Val)	USP7, USP7-AS1 (M23V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2522203	NM_003470.3(USP7):c.7C>T (p.His3Tyr)	USP7, USP7-AS1 (H3Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2438496	NM_003470.3(USP7):c.3163G>A (p.Glu1055Lys)	USP7 (E1039K +3 more)	Single nucleotide variant (missense variant +1 more)	Hao-Fountain syndrome	GUncertain significance
Select item 2231786	NM_003470.3(USP7):c.56A>G (p.Glu19Gly)	USP7, USP7-AS1 (E19G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2097741	NM_003470.3(USP7):c.28C>G (p.Gln10Glu)	USP7, USP7-AS1 (Q10E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2077808	NM_003470.3(USP7):c.12G>C (p.Gln4His)	USP7, USP7-AS1 (Q4H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2056639	NM_003470.3(USP7):c.10CAG[8] (p.Gln10_Lys11insGln)	USP7, USP7-AS1	Microsatellite (inframe_insertion)	not provided +1 more	GBenign/Likely benign
Select item 2043545	NM_003470.3(USP7):c.60C>T (p.Pro20=)	USP7, USP7-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2040683	NM_003470.3(USP7):c.10CAG[6] (p.Gln10del)	USP7, USP7-AS1 (Q10del)	Microsatellite (inframe_deletion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1938894	NM_003470.3(USP7):c.10CAG[5] (p.Gln9_Gln10del)	USP7-AS1, USP7	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1715054	NM_003470.3(USP7):c.55G>A (p.Glu19Lys)	USP7, USP7-AS1 (E19K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1713185	NM_003470.3(USP7):c.835T>G (p.Leu279Val)	USP7 (L180V +3 more)	Single nucleotide variant (missense variant +1 more)	Hao-Fountain syndrome	GLikely pathogenic
Select item 1711400	NM_003470.3(USP7):c.58C>A (p.Pro20Thr)	USP7, USP7-AS1 (P20T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1701698	NM_003470.3(USP7):c.3111+8G>T	USP7	Single nucleotide variant (intron variant)	Hao-Fountain syndrome	GUncertain significance
Select item 1679716	NM_003470.3(USP7):c.2140C>T (p.Arg714Cys)	USP7 (R615C +3 more)	Single nucleotide variant (missense variant +1 more)	Hao-Fountain syndrome	GUncertain significance
Select item 1675613	NC_000016.10:g.8884346G>A	LITAFD, USP7	Single nucleotide variant	not provided	GLikely benign
Select item 1342501	NM_003470.3(USP7):c.2785G>A (p.Val929Met)	USP7 (V830M +3 more)	Single nucleotide variant (missense variant +1 more)	Hao-Fountain syndrome	GUncertain significance
Select item 871804	NM_003470.3(USP7):c.1522C>T (p.Arg508Ter)	USP7 (R492* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 688072	GRCh37/hg19 16p13.2(chr16:8992656-9184247)x3	USP7	Copy number gain	not provided	GUncertain significance
Select item 442598	GRCh37/hg19 16p13.2(chr16:9009295-9050180)x1	USP7	Copy number loss	See cases	GUncertain significance

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Links from Gene

Items: 30