ClinVar for MedGen (Select 59798) - ClinVar

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

Links from MedGen

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3892808	NM_174916.3(UBR1):c.3443C>A (p.Pro1148Gln)	UBR1 (P1148Q)	Single nucleotide variant (missense variant)	Johanson-Blizzard syndrome	GUncertain significance
Select item 3892807	NM_174916.3(UBR1):c.2680G>A (p.Val894Ile)	UBR1 (V894I)	Single nucleotide variant (missense variant)	Johanson-Blizzard syndrome	GUncertain significance
Select item 3892806	NM_174916.3(UBR1):c.1661C>T (p.Ala554Val)	UBR1 (A554V)	Single nucleotide variant (missense variant)	Johanson-Blizzard syndrome	GUncertain significance
Select item 3577127	NM_174916.3(UBR1):c.1396C>T (p.Gln466Ter)	UBR1 (Q466*)	Single nucleotide variant (nonsense)	Johanson-Blizzard syndrome	GLikely pathogenic
Select item 3577126	NM_174916.3(UBR1):c.1830dup (p.Leu611fs)	UBR1 (L611fs)	Duplication (frameshift variant)	Johanson-Blizzard syndrome	GLikely pathogenic
Select item 3577125	NM_174916.3(UBR1):c.1876_1882del (p.Gly626fs)	UBR1 (G626fs)	Deletion (frameshift variant)	Johanson-Blizzard syndrome	GLikely pathogenic
Select item 3381892	NM_174916.3(UBR1):c.3513T>G (p.Tyr1171Ter)	UBR1 (Y1171*)	Single nucleotide variant (nonsense)	Johanson-Blizzard syndrome	GLikely pathogenic
Select item 3358320	NM_174916.3(UBR1):c.985A>G (p.Ser329Gly)	UBR1 (S329G)	Single nucleotide variant (missense variant)	Johanson-Blizzard syndrome	GUncertain significance
Select item 3076002	NM_174916.3(UBR1):c.2840-1G>A	UBR1	Single nucleotide variant (splice acceptor variant)	Johanson-Blizzard syndrome	GLikely pathogenic
Select item 2645263	NM_174916.3(UBR1):c.3848C>T (p.Ser1283Leu)	UBR1 (S1283L)	Single nucleotide variant (missense variant)	Johanson-Blizzard syndrome +1 more	GUncertain significance
Select item 2507972	NM_174916.3(UBR1):c.495T>A (p.Asn165Lys)	UBR1 (N165K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2502313	NM_174916.3(UBR1):c.4745del (p.Asn1582fs)	UBR1 (N1582fs)	Deletion (frameshift variant)	Johanson-Blizzard syndrome	GLikely pathogenic
Select item 2492627	NM_174916.3(UBR1):c.3775A>G (p.Ile1259Val)	UBR1 (I1259V)	Single nucleotide variant (missense variant)	Johanson-Blizzard syndrome +1 more	GConflicting classifications of pathogenicity
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 2137658	NM_174916.3(UBR1):c.4291T>C (p.Ser1431Pro)	UBR1 (S1431P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1805156	NM_174916.3(UBR1):c.593T>C (p.Ile198Thr)	UBR1 (I198T)	Single nucleotide variant (missense variant)	Johanson-Blizzard syndrome	GUncertain significance
Select item 1709455	NM_174916.3(UBR1):c.2379+1G>C	UBR1	Single nucleotide variant (splice donor variant)	Johanson-Blizzard syndrome	GPathogenic
Select item 1706419	NM_174916.3(UBR1):c.752G>T (p.Cys251Phe)	UBR1 (C251F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1408468	NM_174916.3(UBR1):c.4895C>T (p.Ala1632Val)	UBR1 (A1632V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1328530	NM_174916.3(UBR1):c.529-13G>A	UBR1	Single nucleotide variant (intron variant)	Johanson-Blizzard syndrome	GPathogenic/Likely pathogenic
Select item 1328529	NM_174916.3(UBR1):c.3848+5G>A	UBR1	Single nucleotide variant (intron variant)	Johanson-Blizzard syndrome	GUncertain significance
Select item 1323737	NM_174916.3(UBR1):c.4524T>A (p.Tyr1508Ter)	UBR1 (Y1508*)	Single nucleotide variant (nonsense)	Johanson-Blizzard syndrome +1 more	GPathogenic
Select item 1290508	NM_174916.3(UBR1):c.2379+29G>T	UBR1	Single nucleotide variant (intron variant)	Johanson-Blizzard syndrome +1 more	GBenign
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 1029286	NM_174916.3(UBR1):c.947G>A (p.Arg316His)	UBR1 (R316H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1029284	NM_174916.3(UBR1):c.2261G>A (p.Arg754His)	UBR1 (R754H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1027875	NM_174916.3(UBR1):c.1539+2T>G	UBR1	Single nucleotide variant (splice donor variant)	Johanson-Blizzard syndrome	GLikely pathogenic
Select item 985549	NM_174916.3(UBR1):c.3055C>T (p.Arg1019Ter)	UBR1 (R1019*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic
Select item 915405	NM_174916.3(UBR1):c.5019C>G (p.Cys1673Trp)	UBR1 (C1673W)	Single nucleotide variant (missense variant)	Johanson-Blizzard syndrome	GUncertain significance
Select item 789072	NM_174916.3(UBR1):c.1213A>G (p.Ser405Gly)	UBR1 (S405G)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 429676	NM_174916.3(UBR1):c.2273G>A (p.Gly758Glu)	UBR1 (G758E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 429675	NM_174916.3(UBR1):c.1912-6T>G	UBR1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely pathogenic
Select item 262898	NM_174916.3(UBR1):c.862-18C>T	UBR1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 262895	NM_174916.3(UBR1):c.4700+12A>G	UBR1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 262892	NM_174916.3(UBR1):c.2695A>G (p.Ile899Val)	UBR1 (I899V)	Single nucleotide variant (missense variant)	Johanson-Blizzard syndrome +2 more	GBenign/Likely benign
Select item 235664	NM_174916.3(UBR1):c.3290C>T (p.Thr1097Met)	UBR1 (T1097M)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 208624	NM_174916.3(UBR1):c.4107T>A (p.Cys1369Ter)	UBR1 (C1369*)	Single nucleotide variant (nonsense)	Johanson-Blizzard syndrome	GPathogenic
Select item 31918	NM_174916.3(UBR1):c.1440-1G>A	UBR1	Single nucleotide variant (splice acceptor variant)	Johanson-Blizzard syndrome	GPathogenic
Select item 4681	NM_174916.3(UBR1):c.2839+5G>A	UBR1	Single nucleotide variant (intron variant)	Johanson-Blizzard syndrome	GPathogenic
Select item 4680	NM_174916.3(UBR1):c.1537C>T (p.Gln513Ter)	UBR1 (Q513*)	Single nucleotide variant (nonsense)	Johanson-Blizzard syndrome	GPathogenic
Select item 4679	NM_174916.3(UBR1):c.2254+2T>C	UBR1	Single nucleotide variant (splice donor variant)	Johanson-Blizzard syndrome	GPathogenic
Select item 4678	NM_174916.3(UBR1):c.407A>G (p.His136Arg)	UBR1 (H136R)	Single nucleotide variant (missense variant)	Johanson-Blizzard syndrome	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 43