"Human Genetics Laboratory, Amsterdam University Medical Center"[submi - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2441899	NM_003470.3(USP7):c.3043G>A (p.Glu1015Lys)	USP7 (E1015K +3 more)	Single nucleotide variant (missense variant +1 more)	Hao-Fountain syndrome	GUncertain significance
Select item 2500248	NM_003470.3(USP7):c.2232_2235del (p.Arg745fs)	USP7 (R646fs +3 more)	Microsatellite (frameshift variant +1 more)	Hao-Fountain syndrome	GLikely pathogenic
Select item 2500247	NM_003470.3(USP7):c.2132_2140+9del	USP7	Deletion (splice donor variant)	Hao-Fountain syndrome	GLikely pathogenic
Select item 2572973	NM_003470.3(USP7):c.1754A>T (p.Asp585Val)	USP7 (D486V +3 more)	Single nucleotide variant (missense variant +1 more)	Hao-Fountain syndrome	GLikely pathogenic
Select item 2572974	NM_003470.3(USP7):c.1691A>C (p.Tyr564Ser)	USP7 (Y465S +3 more)	Single nucleotide variant (missense variant +1 more)	Hao-Fountain syndrome	GLikely pathogenic
Select item 2500240	NM_003470.3(USP7):c.1297C>A (p.Leu433Ile)	USP7 (L334I +3 more)	Single nucleotide variant (missense variant +1 more)	Hao-Fountain syndrome	GLikely pathogenic
Select item 2500244	NM_003470.3(USP7):c.1258A>G (p.Lys420Glu)	USP7 (K321E +3 more)	Single nucleotide variant (missense variant +1 more)	Hao-Fountain syndrome	GLikely pathogenic
Select item 2500239	NM_003470.3(USP7):c.1091T>A (p.Phe364Tyr)	USP7 (F265Y +3 more)	Single nucleotide variant (missense variant +1 more)	Hao-Fountain syndrome	GUncertain significance
Select item 1713170	NM_003470.3(USP7):c.992A>G (p.Tyr331Cys)	USP7 (Y232C +3 more)	Single nucleotide variant (missense variant +1 more)	Hao-Fountain syndrome	GLikely pathogenic
Select item 2500245	NM_003470.3(USP7):c.884A>G (p.Asp295Gly)	USP7 (D196G +3 more)	Single nucleotide variant (missense variant +1 more)	Hao-Fountain syndrome	GLikely pathogenic
Select item 2500246	NM_003470.3(USP7):c.721-1G>C	USP7	Single nucleotide variant (splice acceptor variant)	Hao-Fountain syndrome	GLikely pathogenic
Select item 2500241	NM_003470.3(USP7):c.713T>G (p.Leu238Arg)	USP7 (L139R +3 more)	Single nucleotide variant (missense variant +1 more)	Hao-Fountain syndrome	GLikely pathogenic
Select item 1068189	NM_003470.3(USP7):c.352T>C (p.Phe118Leu)	USP7 (F102L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2500242	NC_000016.9:g.(?_8160554)_(9074348_?)del	ABAT, CARHSP1 +5 more	Deletion	Hao-Fountain syndrome	GPathogenic