ClinVar for MedGen (Select 59798) - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2502313	NM_174916.3(UBR1):c.4745del (p.Asn1582fs)	UBR1 (N1582fs)	Deletion (frameshift variant)	Johanson-Blizzard syndrome	GLikely pathogenic
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 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 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)	not provided +1 more	GPathogenic
Select item 1290508	NM_174916.3(UBR1):c.2379+29G>T	UBR1	Single nucleotide variant (intron variant)	not provided +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)	Johanson-Blizzard syndrome	GUncertain significance
Select item 1029284	NM_174916.3(UBR1):c.2261G>A (p.Arg754His)	UBR1 (R754H)	Single nucleotide variant (missense variant)	Johanson-Blizzard syndrome +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 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 specified +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)	not specified +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 provided +3 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

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Items: 28