Related gene-specific medical variations for Gene (Select 377630) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3025402	NM_201402.3(USP17L2):c.535G>A (p.Gly179Ser)	FAM66D, USP17L2 (G179S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2658430	NM_201402.3(USP17L2):c.18C>G (p.Leu6=)	FAM66D, USP17L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658429	NM_201402.3(USP17L2):c.148G>A (p.Asp50Asn)	FAM66D, USP17L2 (D50N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2658428	NM_201402.3(USP17L2):c.291C>T (p.Cys97=)	FAM66D, USP17L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658427	NM_201402.3(USP17L2):c.466G>T (p.Gly156Cys)	FAM66D, USP17L2 (G156C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2658426	NM_201402.3(USP17L2):c.863G>A (p.Gly288Asp)	FAM66D, USP17L2 (G288D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2658425	NM_201402.3(USP17L2):c.887A>T (p.Gln296Leu)	FAM66D, USP17L2 (Q296L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2658424	NM_201402.3(USP17L2):c.1087C>T (p.Leu363=)	FAM66D, USP17L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658423	NM_201402.3(USP17L2):c.1498G>A (p.Val500Met)	FAM66D, USP17L2 (V500M)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 768228	NM_201402.3(USP17L2):c.786G>A (p.Pro262=)	FAM66D, USP17L2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign