LOC130056935[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148856	GRCh38/hg38 15q15.2-15.3(chr15:42566761-43847106)x1	ADAL, CATSPER2 +69 more	Copy number loss	See cases	GLikely pathogenic
Select item 154069	GRCh38/hg38 15q15.2-15.3(chr15:42785627-43342260)x1	ADAL, CCNDBP1 +18 more	Copy number loss	See cases	GPathogenic
Select item 2954870	NM_174916.3(UBR1):c.798+17T>G	LOC130056935, UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2784042	NM_174916.3(UBR1):c.798+12C>T	LOC130056935, UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2893282	NM_174916.3(UBR1):c.798+9T>C	LOC130056935, UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2825050	NM_174916.3(UBR1):c.792C>T (p.Asp264=)	LOC130056935, UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2009790	NM_174916.3(UBR1):c.780C>T (p.Thr260=)	LOC130056935, UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2791765	NM_174916.3(UBR1):c.772T>C (p.Leu258=)	LOC130056935, UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2858996	NM_174916.3(UBR1):c.760G>T (p.Ala254Ser)	LOC130056935, UBR1 (A254S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1427381	NM_174916.3(UBR1):c.760G>A (p.Ala254Thr)	LOC130056935, UBR1 (A254T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2893499	NM_174916.3(UBR1):c.759C>T (p.Leu253=)	LOC130056935, UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign