Related gene-specific medical variations for Gene (Select 4287) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3044058	NM_004993.6(ATXN3):c.891_905dup (p.Gln305_Gly306insGlnGlnGlnGlnGln)	ATXN3, LOC108663987	Duplication (inframe insertion +2 more)	ATXN3-related condition	GBenign
Select item 3037422	NM_004993.6(ATXN3):c.891_892insG (p.Gln298fs)	ATXN3, LOC108663987 (Q119fs +11 more)	Insertion (frameshift variant +1 more)	ATXN3-related condition	GBenign
Select item 1209878	NM_004993.6(ATXN3):c.890_891insGCAGCAGCAGCAGCAGCAGCAGC (p.Gln305fs)	ATXN3, LOC108663987 (Q126fs +11 more)	Insertion (frameshift variant +1 more)	not provided	GLikely benign
Select item 210511	NM_004993.6(ATXN3):c.882_884del (p.Lys295del)	LOC108663987, ATXN3 (K295del +11 more)	Deletion (inframe_deletion +1 more)	not specified	GUncertain significance
Select item 209995	NM_004993.5(ATXN3):c.886_888CAG(60_86) (p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)	LOC108663987, ATXN3	Microsatellite	Azorean disease	GPathogenic
Select item 209994	NM_004993.5(ATXN3):c.886_888CAG(12_44) (p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)	ATXN3, LOC108663987	Microsatellite	Azorean disease	GBenign
Select item 128514	NM_004993.6(ATXN3):c.891A>G (p.Gln297=)	ATXN3, LOC108663987 (T70A +4 more)	Single nucleotide variant (synonymous variant +2 more)	ATXN3-related condition +2 more	GBenign/Likely benign
Select item 128513	NM_004993.6(ATXN3):c.883A>C (p.Lys295Gln)	LOC108663987, ATXN3 (K295Q +11 more)	Single nucleotide variant (missense variant +1 more)	ATXN3-related condition +1 more	GBenign
Select item 128512	NM_004993.6(ATXN3):c.882A>G (p.Gln294=)	ATXN3, LOC108663987 (K67E +4 more)	Single nucleotide variant (synonymous variant +2 more)	ATXN3-related condition +1 more	GBenign
Select item 3551	NM_004993.6(ATXN3):c.892CAG[8_36]	ATXN3, LOC108663987	Microsatellite	Parkinson disease, late-onset +1 more	GPathogenic; risk factor