ClinVar for Gene (Select 100507468) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 391589	NM_015570.4(AUTS2):c.149C>A (p.Ser50Ter)	AUTS2, CT66 (S50*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 154461	GRCh38/hg38 7q11.21-11.23(chr7:62736364-75432710)x1	LOC129998564, LOC129998565 +351 more	Copy number loss	See cases	GPathogenic
Select item 154104	GRCh38/hg38 7q11.21-11.23(chr7:62977085-75415352)x3	ABHD11, ABHD11-AS1 +350 more	Copy number gain	See cases	GPathogenic
Select item 149769	GRCh38/hg38 7q11.22(chr7:69477169-69865814)x1	AUTS2, CT66 +14 more	Copy number loss	See cases	GUncertain significance
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 144933	GRCh38/hg38 7q11.22(chr7:69588764-69765039)x1	AUTS2, CT66 +10 more	Copy number loss	See cases	GPathogenic
Select item 144764	GRCh38/hg38 7q11.22(chr7:69000832-70244446)x1	AUTS2, CT66 +24 more	Copy number loss	See cases	GPathogenic
Select item 60237	GRCh38/hg38 7q11.22-11.23(chr7:69382353-77823832)x1	SPDYE12, SPDYE13 +330 more	Copy number loss	See cases	GPathogenic
Select item 58552	GRCh38/hg38 7q11.22-11.23(chr7:68668307-73710276)x1	AUTS2, BAZ1B +117 more	Copy number loss	See cases	GPathogenic
Select item 57022	GRCh38/hg38 7q11.21-11.22(chr7:64657050-72243063)x1	ASL, GALNT17 +158 more	Copy number loss	See cases	GPathogenic