ClinVar for Gene (Select 108663987) - ClinVar

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Links from Gene

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3055415	NM_004993.6(ATXN3):c.892CAG[16] (p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGln)	ATXN3, LOC108663987	Microsatellite (inframe_indel +1 more)	ATXN3-related disorder	GBenign
Select item 3044058	NM_004993.6(ATXN3):c.891_905dup (p.Gln305_Gly306insGlnGlnGlnGlnGln)	ATXN3, LOC108663987	Duplication (inframe_indel +1 more)	ATXN3-related disorder	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 disorder	GBenign
Select item 2644469	NM_004993.6(ATXN3):c.892CAG[13] (p.Gln305_Gly306insGlnGlnGlnGlnGln)	ATXN3, LOC108663987	Microsatellite (inframe_insertion +2 more)	not provided	GBenign
Select item 2644468	NM_004993.6(ATXN3):c.892CAG[9] (p.Gln305_Gly306insGln)	ATXN3, LOC108663987	Microsatellite (inframe_insertion +2 more)	not provided	GLikely benign
Select item 1319061	NM_004993.6(ATXN3):c.892CAG[11] (p.Gln303_Gln305dup)	ATXN3, LOC108663987	Microsatellite (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 1209890	NM_004993.6(ATXN3):c.915_916insCAGCAGCAGCAGCAGCAGCA (p.Gly306fs)	ATXN3, LOC108663987 (G127fs +11 more)	Insertion (frameshift variant +1 more)	not specified	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 1050497	NM_004993.6(ATXN3):c.915_916insCAGCAGCAGCAGCAGCA (p.Gly306fs)	ATXN3, LOC108663987 (G127fs +11 more)	Insertion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1050334	NM_004993.6(ATXN3):c.892CAG[17] (p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGln)	ATXN3, LOC108663987	Microsatellite (inframe_insertion +1 more)	not provided	GBenign
Select item 1050299	NM_004993.6(ATXN3):c.915_916insCA (p.Gly306fs)	ATXN3, LOC108663987 (G127fs +11 more)	Insertion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1050021	NM_004993.6(ATXN3):c.892CAG[21] (p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)	ATXN3, LOC108663987	Microsatellite (inframe_insertion +1 more)	not provided	GLikely benign
Select item 931861	NM_004993.6(ATXN3):c.892CAG[12] (p.Gln302_Gln305dup)	ATXN3, LOC108663987	Microsatellite (inframe_insertion +1 more)	Azorean disease	GBenign
Select item 599464	NM_004993.6(ATXN3):c.892CAG[10] (p.Gln304_Gln305dup)	LOC108663987, ATXN3	Microsatellite (inframe_insertion +1 more)	not specified	GBenign
Select item 218660	NM_004993.6(ATXN3):c.892CAG[18] (p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)	ATXN3, LOC108663987	Microsatellite (inframe_insertion +1 more)	not specified	GBenign
Select item 210511	NM_004993.6(ATXN3):c.882_884del (p.Lys295del)	ATXN3, LOC108663987 (K295del +11 more)	Deletion (inframe_deletion +1 more)	not specified +1 more	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 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1204 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC130056651, LOC130056652 +1423 more	Copy number gain	See cases	GPathogenic
Select item 128514	NM_004993.6(ATXN3):c.891A>G (p.Gln297=)	ATXN3, LOC108663987 (T70A +4 more)	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 128513	NM_004993.6(ATXN3):c.883A>C (p.Lys295Gln)	ATXN3, LOC108663987 (K295Q +11 more)	Single nucleotide variant (missense variant +1 more)	not provided	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)	not provided	GBenign
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	IGHD5-18, IGHD5-24 +881 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056392, LOC130056393 +1073 more	Copy number gain	See cases	GPathogenic
Select item 57811	GRCh38/hg38 14q32.11-32.13(chr14:90255156-95274696)x1	ASB2, ATXN3 +201 more	Copy number loss	See cases	GPathogenic
Select item 3551	NM_004993.6(ATXN3):c.892CAG[8_36]	ATXN3, LOC108663987	Microsatellite	Parkinson disease, late-onset +1 more	GPathogenic; risk factor

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Items: 29