"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "LOC1300087 - ClinVar - NCBI

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Search results

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 522972	NM_001372574.1(ATXN2):c.176_190del (p.Val59_Ser63del)	ATXN2, LOC130008791	Deletion (inframe_deletion +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2643321	NM_001372574.1(ATXN2):c.84GCC[4] (p.Pro31_Ala32insPro)	ATXN2, LOC130008791	Microsatellite (inframe_insertion +2 more)	not provided	GBenign
Select item 2643322	NM_001372574.1(ATXN2):c.56_85del (p.Gln19_Gln28del)	ATXN2, LOC130008791	Deletion (inframe_deletion +2 more)	not provided	GLikely benign
Select item 2643323	NM_001372574.1(ATXN2):c.71_72insACAGCAGCAGCA (p.Gln28_Pro29insGlnGlnGlnGln)	ATXN2, LOC130008791	Microsatellite (inframe_insertion +2 more)	not provided	GBenign
Select item 2643324	NM_001372574.1(ATXN2):c.57_68del (p.Gln25_Gln28del)	ATXN2, LOC130008791	Deletion (inframe_deletion +2 more)	not provided	GLikely benign
Select item 2643325	NM_001372574.1(ATXN2):c.66G>A (p.Gln22=)	ATXN2, LOC130008791	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2643326	NM_001372574.1(ATXN2):c.57_62del (p.Gln27_Gln28del)	ATXN2, LOC130008791	Deletion (inframe_deletion +2 more)	not provided	GLikely benign
Select item 2643327	NM_001372574.1(ATXN2):c.54G>A (p.Gln18=)	ATXN2, LOC130008791	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2643328	NM_001372574.1(ATXN2):c.48G>A (p.Gln16=)	ATXN2, LOC130008791	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign