"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "UBR4"[gene - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 546592	NM_020765.3(UBR4):c.15547C>A (p.Pro5183Thr)	UBR4 (P5183T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 546593	NM_020765.3(UBR4):c.15511C>G (p.Pro5171Ala)	UBR4 (P5171A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 156527	NM_020765.3(UBR4):c.15272G>A (p.Arg5091His)	UBR4 (R5091H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2638409	NM_020765.3(UBR4):c.15062C>T (p.Pro5021Leu)	LOC126805640, UBR4 (P5021L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2638410	NM_020765.3(UBR4):c.15009-174G>A	LOC126805640, UBR4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2638411	NM_020765.3(UBR4):c.15009-175C>T	LOC126805640, UBR4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2638412	NM_020765.3(UBR4):c.14493C>T (p.Ile4831=)	LOC129929563, UBR4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638413	NM_020765.3(UBR4):c.13602C>T (p.Asn4534=)	UBR4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638414	NM_020765.3(UBR4):c.12400T>G (p.Phe4134Val)	UBR4 (F4134V)	Single nucleotide variant (missense variant)	UBR4-related condition +1 more	GLikely benign
Select item 2638415	NM_020765.3(UBR4):c.11445C>T (p.Ser3815=)	UBR4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2638416	NM_020765.3(UBR4):c.11328+56C>G	UBR4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 770841	NM_020765.3(UBR4):c.11256G>A (p.Gln3752=)	UBR4	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 774787	NM_020765.3(UBR4):c.11097C>T (p.Leu3699=)	UBR4	Single nucleotide variant (synonymous variant)	UBR4-related condition +1 more	GBenign
Select item 2638417	NM_020765.3(UBR4):c.10998G>A (p.Ser3666=)	UBR4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 719165	NM_020765.3(UBR4):c.10215G>A (p.Lys3405=)	LOC126805641, UBR4	Single nucleotide variant (synonymous variant)	UBR4-related condition +1 more	GBenign/Likely benign
Select item 774788	NM_020765.3(UBR4):c.10131G>A (p.Lys3377=)	UBR4	Single nucleotide variant (synonymous variant)	UBR4-related condition +1 more	GBenign
Select item 791415	NM_020765.3(UBR4):c.9942C>T (p.Gly3314=)	UBR4	Single nucleotide variant (synonymous variant)	UBR4-related condition +1 more	GBenign/Likely benign
Select item 774789	NM_020765.3(UBR4):c.9447T>A (p.Ala3149=)	UBR4	Single nucleotide variant (synonymous variant)	UBR4-related condition +1 more	GBenign
Select item 2638418	NM_020765.3(UBR4):c.9300C>T (p.His3100=)	UBR4	Single nucleotide variant (synonymous variant)	UBR4-related condition +1 more	GLikely benign
Select item 723643	NM_020765.3(UBR4):c.9267A>G (p.Leu3089=)	UBR4	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2638419	NM_020765.3(UBR4):c.8610C>T (p.Asp2870=)	UBR4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1176186	NM_020765.3(UBR4):c.8405C>A (p.Pro2802His)	UBR4 (P2802H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 872236	NM_020765.3(UBR4):c.8389G>A (p.Ala2797Thr)	UBR4 (A2797T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 723644	NM_020765.3(UBR4):c.7650A>G (p.Lys2550=)	UBR4	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 735066	NM_020765.3(UBR4):c.7629+7G>T	UBR4	Single nucleotide variant (intron variant)	UBR4-related condition +1 more	GBenign/Likely benign
Select item 2638420	NM_020765.3(UBR4):c.6660G>A (p.Thr2220=)	UBR4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 723645	NM_020765.3(UBR4):c.5631C>T (p.Tyr1877=)	UBR4	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2638421	NM_020765.3(UBR4):c.5493C>T (p.Ala1831=)	UBR4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638422	NM_020765.3(UBR4):c.4923G>A (p.Ala1641=)	UBR4	Single nucleotide variant (synonymous variant)	UBR4-related condition +1 more	GBenign
Select item 2372373	NM_020765.3(UBR4):c.4793A>T (p.His1598Leu)	UBR4 (H1598L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 806076	NM_020765.3(UBR4):c.4679C>T (p.Ala1560Val)	UBR4 (A1560V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2638423	NM_020765.3(UBR4):c.4407C>T (p.Thr1469=)	UBR4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2638424	NM_020765.3(UBR4):c.3861C>G (p.Thr1287=)	UBR4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 789507	NM_020765.3(UBR4):c.3378C>T (p.Ala1126=)	UBR4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2638425	NM_020765.3(UBR4):c.2702G>A (p.Arg901His)	UBR4 (R901H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 723733	NM_020765.3(UBR4):c.2681G>T (p.Gly894Val)	UBR4 (G894V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 786456	NM_020765.3(UBR4):c.2678G>A (p.Ser893Asn)	UBR4 (S893N)	Single nucleotide variant (missense variant)	UBR4-related condition +1 more	GBenign
Select item 774791	NM_020765.3(UBR4):c.2530A>G (p.Met844Val)	UBR4 (M844V)	Single nucleotide variant (missense variant)	UBR4-related condition +1 more	GBenign/Likely benign
Select item 2638426	NM_020765.3(UBR4):c.833T>C (p.Leu278Ser)	UBR4 (L278S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2638427	NM_020765.3(UBR4):c.274+3A>G	UBR4	Single nucleotide variant (intron variant)	UBR4-related condition +1 more	GBenign/Likely benign
Select item 2638428	NM_020765.3(UBR4):c.210C>T (p.Tyr70=)	UBR4	Single nucleotide variant (synonymous variant)	UBR4-related condition +1 more	GBenign/Likely benign
Select item 2638429	NM_020765.3(UBR4):c.-4G>A	LOC129929564, UBR4	Single nucleotide variant (5 prime UTR variant)	UBR4-related condition +1 more	GBenign

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Items: 42