NUP153-AS1[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	ADTRP, ATXN1 +825 more	Copy number gain	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 152197	GRCh38/hg38 6p23-22.3(chr6:14958760-18580908)x3	ATXN1, ATXN1-AS1 +162 more	Copy number gain	See cases	GUncertain significance
Select item 57174	GRCh38/hg38 6p22.3(chr6:17397932-17966557)x3	CAP2, FAM8A1 +17 more	Copy number gain	See cases	GUncertain significance
Select item 773466	NM_005124.4(NUP153):c.95G>A (p.Gly32Glu)	NUP153, NUP153-AS1 (G32E)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign/Likely benign
Select item 3202988	NM_005124.4(NUP153):c.83C>T (p.Pro28Leu)	NUP153, NUP153-AS1 (P28L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2604562	NM_005124.4(NUP153):c.66C>G (p.His22Gln)	NUP153, NUP153-AS1 (H22Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3202985	NM_005124.4(NUP153):c.65A>T (p.His22Leu)	NUP153, NUP153-AS1 (H22L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3202983	NM_005124.4(NUP153):c.50G>A (p.Arg17Gln)	NUP153, NUP153-AS1 (R17Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance