LOC130056936[gene] - ClinVar

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Items: 26

	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 1279283	NM_174916.3(UBR1):c.81+32T>C	LOC130056936, UBR1	Single nucleotide variant (intron variant)	Johanson-Blizzard syndrome +1 more	GBenign
Select item 1246136	NM_174916.3(UBR1):c.81+32del	LOC130056936, UBR1	Deletion (intron variant)	not provided	GBenign
Select item 2995989	NM_174916.3(UBR1):c.81+14G>A	LOC130056936, UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1537740	NM_174916.3(UBR1):c.81+11A>G	LOC130056936, UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2859263	NM_174916.3(UBR1):c.81+9C>T	LOC130056936, UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2736188	NM_174916.3(UBR1):c.81+5G>C	LOC130056936, UBR1	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 3002884	NM_174916.3(UBR1):c.78A>G (p.Ala26=)	LOC130056936, UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2738013	NM_174916.3(UBR1):c.69G>A (p.Gln23=)	LOC130056936, UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994595	NM_174916.3(UBR1):c.63C>T (p.Thr21=)	LOC130056936, UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2859756	NM_174916.3(UBR1):c.63C>A (p.Thr21=)	LOC130056936, UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2714354	NM_174916.3(UBR1):c.63C>G (p.Thr21=)	LOC130056936, UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2176364	NM_174916.3(UBR1):c.58C>G (p.Gln20Glu)	LOC130056936, UBR1 (Q20E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3002616	NM_174916.3(UBR1):c.57C>G (p.Pro19=)	LOC130056936, UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878493	NM_174916.3(UBR1):c.48G>C (p.Ala16=)	LOC130056936, UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 714531	NM_174916.3(UBR1):c.47C>T (p.Ala16Val)	LOC130056936, UBR1 (A16V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2488996	NM_174916.3(UBR1):c.35T>G (p.Met12Arg)	LOC130056936, UBR1 (M12R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2826518	NM_174916.3(UBR1):c.30G>A (p.Glu10=)	LOC130056936, UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1462805	NM_174916.3(UBR1):c.26C>T (p.Thr9Ile)	LOC130056936, UBR1 (T9I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2875403	NM_174916.3(UBR1):c.24T>C (p.Gly8=)	LOC130056936, UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2882315	NM_174916.3(UBR1):c.20G>T (p.Gly7Val)	LOC130056936, UBR1 (G7V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2710076	NM_174916.3(UBR1):c.18T>C (p.Ala6=)	LOC130056936, UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2614021	NM_174916.3(UBR1):c.17C>T (p.Ala6Val)	LOC130056936, UBR1 (A6V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3185745	NM_174916.3(UBR1):c.16G>T (p.Ala6Ser)	LOC130056936, UBR1 (A6S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2868156	NM_174916.3(UBR1):c.15G>A (p.Glu5=)	LOC130056936, UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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Items: 26