Related gene-specific medical variations for Gene (Select 51733) - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359510	NM_016327.3(UPB1):c.307A>C (p.Ile103Leu)	UPB1 (I103L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3331130	NM_016327.3(UPB1):c.1111G>A (p.Glu371Lys)	LOC130067121, UPB1 (E371K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065964	NM_016327.3(UPB1):c.505C>T (p.Arg169Ter)	UPB1 (R169*)	Single nucleotide variant (nonsense)	Deficiency of beta-ureidopropionase	GLikely pathogenic
Select item 3051200	NM_016327.3(UPB1):c.*2C>A	LOC130067121, UPB1	Single nucleotide variant (3 prime UTR variant)	UPB1-related disorder	GLikely benign
Select item 3046492	NM_016327.3(UPB1):c.*4G>A	LOC130067121, UPB1	Single nucleotide variant (3 prime UTR variant)	UPB1-related disorder	GLikely benign
Select item 2208474	NM_016327.3(UPB1):c.1108G>A (p.Ala370Thr)	LOC130067121, UPB1 (A370T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1910953	NM_016327.3(UPB1):c.1110C>T (p.Ala370=)	LOC130067121, UPB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1446140	NM_016327.3(UPB1):c.1144G>A (p.Val382Met)	LOC130067121, UPB1 (V382M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 903221	NM_016327.3(UPB1):c.*93A>G	LOC130067121, UPB1	Single nucleotide variant (3 prime UTR variant)	Deficiency of beta-ureidopropionase	GUncertain significance
Select item 903220	NM_016327.3(UPB1):c.*10G>A	LOC130067121, UPB1	Single nucleotide variant (3 prime UTR variant)	Deficiency of beta-ureidopropionase	GUncertain significance
Select item 903219	NM_016327.3(UPB1):c.*3G>A	LOC130067121, UPB1	Single nucleotide variant (3 prime UTR variant)	Deficiency of beta-ureidopropionase	GBenign
Select item 789360	NM_016327.3(UPB1):c.1107C>T (p.Leu369=)	LOC130067121, UPB1	Single nucleotide variant (synonymous variant)	Deficiency of beta-ureidopropionase +1 more	GBenign/Likely benign
Select item 591764	NM_016327.3(UPB1):c.364+1G>A	UPB1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 591462	NM_016327.3(UPB1):c.671del (p.Gln224fs)	UPB1 (Q224fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 591133	NM_016327.3(UPB1):c.386C>G (p.Thr129Arg)	UPB1 (T129R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591011	NM_016327.3(UPB1):c.509A>G (p.Asp170Gly)	UPB1 (D170G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 548558	NM_016327.3(UPB1):c.1099C>G (p.Arg367Gly)	UPB1 (R367G)	Single nucleotide variant (missense variant)	Deficiency of beta-ureidopropionase	GUncertain significance
Select item 377152	NM_016327.3(UPB1):c.10G>A (p.Ala4Thr)	UPB1 (A4T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 340939	NM_016327.3(UPB1):c.*23G>A	LOC130067121, UPB1	Single nucleotide variant (3 prime UTR variant)	Deficiency of beta-ureidopropionase	GUncertain significance
Select item 340938	NM_016327.3(UPB1):c.1122G>A (p.Lys374=)	UPB1, LOC130067121	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 100162	NM_016327.3(UPB1):c.874-64A>G	UPB1, LOC130067120	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 100158	NM_016327.3(UPB1):c.365-67G>A	UPB1	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 100156	NM_016327.3(UPB1):c.105-61A>G	UPB1	Single nucleotide variant (intron variant)	not provided	Gnot provided

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Links from Gene

Items: 23