Related gene-specific medical variations for Gene (Select 197131) - ClinVar

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

Links from Gene

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3002884	NM_174916.3(UBR1):c.78A>G (p.Ala26=)	LOC130056936, UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2995989	NM_174916.3(UBR1):c.81+14G>A	LOC130056936, UBR1	Single nucleotide variant (intron 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 2954870	NM_174916.3(UBR1):c.798+17T>G	LOC130056935, UBR1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2893499	NM_174916.3(UBR1):c.759C>T (p.Leu253=)	LOC130056935, UBR1	Single nucleotide variant (synonymous 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 2882315	NM_174916.3(UBR1):c.20G>T (p.Gly7Val)	LOC130056936, UBR1 (G7V)	Single nucleotide variant (missense 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 2875403	NM_174916.3(UBR1):c.24T>C (p.Gly8=)	LOC130056936, UBR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2868156	NM_174916.3(UBR1):c.15G>A (p.Glu5=)	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 2859263	NM_174916.3(UBR1):c.81+9C>T	LOC130056936, UBR1	Single nucleotide variant (intron 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 2826518	NM_174916.3(UBR1):c.30G>A (p.Glu10=)	LOC130056936, UBR1	Single nucleotide variant (synonymous 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 2791765	NM_174916.3(UBR1):c.772T>C (p.Leu258=)	LOC130056935, UBR1	Single nucleotide variant (synonymous 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 2738013	NM_174916.3(UBR1):c.69G>A (p.Gln23=)	LOC130056936, UBR1	Single nucleotide variant (synonymous 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 2714354	NM_174916.3(UBR1):c.63C>G (p.Thr21=)	LOC130056936, UBR1	Single nucleotide variant (synonymous 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 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 2442050	NM_174916.3(UBR1):c.2075T>C (p.Ile692Thr)	UBR1 (I692T)	Single nucleotide variant (missense variant)	Johanson-Blizzard syndrome	GUncertain significance
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 2009790	NM_174916.3(UBR1):c.780C>T (p.Thr260=)	LOC130056935, UBR1	Single nucleotide variant (synonymous 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 1462805	NM_174916.3(UBR1):c.26C>T (p.Thr9Ile)	LOC130056936, UBR1 (T9I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1427381	NM_174916.3(UBR1):c.760G>A (p.Ala254Thr)	LOC130056935, UBR1 (A254T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 1251994	NM_174916.3(UBR1):c.4054-2A>G	UBR1	Single nucleotide variant (splice acceptor variant)	Johanson-Blizzard syndrome	GPathogenic
Select item 1246136	NM_174916.3(UBR1):c.81+32del	LOC130056936, UBR1	Deletion (intron variant)	not provided	GBenign
Select item 815708	GRCh37/hg19 15q15.2(chr15:43314157-43402377)x1	UBR1	Copy number loss	not provided	GUncertain significance
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 687091	GRCh37/hg19 15q15.2(chr15:43295821-43357630)x3	UBR1	Copy number gain	not provided	GUncertain significance
Select item 591222	NM_174916.3(UBR1):c.2380-20_2380-2del	UBR1	Deletion (splice acceptor variant)	not provided	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 38