"PreventionGenetics, part of Exact Sciences"[submitter] AND "UTP4"[gen - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3032640	NM_032830.3(UTP4):c.36T>C (p.Phe12=)	UTP4	Single nucleotide variant (synonymous variant +1 more)	UTP4-related condition	GLikely benign
Select item 2636139	NM_032830.3(UTP4):c.74A>G (p.Asn25Ser)	UTP4 (N25S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 3045663	NM_032830.3(UTP4):c.115A>G (p.Thr39Ala)	UTP4 (T39A)	Single nucleotide variant (5 prime UTR variant +1 more)	UTP4-related condition	GUncertain significance
Select item 2629050	NM_032830.3(UTP4):c.238A>C (p.Asn80His)	UTP4 (N80H)	Single nucleotide variant (5 prime UTR variant +1 more)	UTP4-related condition	GUncertain significance
Select item 710240	NM_032830.3(UTP4):c.302G>T (p.Gly101Val)	UTP4 (G101V +1 more)	Single nucleotide variant (missense variant)	UTP4-related condition +2 more	GConflicting classifications of pathogenicity
Select item 3050466	NM_032830.3(UTP4):c.345A>G (p.Gln115=)	UTP4	Single nucleotide variant (synonymous variant)	UTP4-related condition	GLikely benign
Select item 2890657	NM_032830.3(UTP4):c.464C>A (p.Pro155His)	UTP4 (P155H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3033774	NM_032830.3(UTP4):c.478A>G (p.Ile160Val)	UTP4 (I160V +1 more)	Single nucleotide variant (missense variant)	UTP4-related condition	GUncertain significance
Select item 3029319	NM_032830.3(UTP4):c.534T>C (p.Ala178=)	UTP4	Single nucleotide variant (synonymous variant)	UTP4-related condition	GLikely benign
Select item 2712345	NM_032830.3(UTP4):c.535G>T (p.Val179Phe)	UTP4 (V96F +1 more)	Single nucleotide variant (missense variant)	UTP4-related condition +1 more	GLikely benign
Select item 2724483	NM_032830.3(UTP4):c.591C>T (p.Ile197=)	UTP4	Single nucleotide variant (synonymous variant)	UTP4-related condition +1 more	GBenign/Likely benign
Select item 3047852	NM_032830.3(UTP4):c.651G>A (p.Lys217=)	UTP4	Single nucleotide variant (synonymous variant)	UTP4-related condition	GLikely benign
Select item 888311	NM_032830.3(UTP4):c.714C>T (p.Asp238=)	UTP4	Single nucleotide variant (synonymous variant)	UTP4-related condition +2 more	GBenign
Select item 3032856	NM_032830.3(UTP4):c.768C>T (p.Ala256=)	UTP4	Single nucleotide variant (synonymous variant)	UTP4-related condition	GLikely benign
Select item 3032575	NM_032830.3(UTP4):c.897G>A (p.Ala299=)	UTP4	Single nucleotide variant (synonymous variant)	UTP4-related condition	GLikely benign
Select item 3061544	NM_032830.3(UTP4):c.910+4_910+5delinsAA	UTP4	Indel (intron variant)	UTP4-related condition	GLikely benign
Select item 2634477	NM_032830.3(UTP4):c.933T>G (p.Phe311Leu)	UTP4 (F228L +1 more)	Single nucleotide variant (missense variant)	UTP4-related condition	GUncertain significance
Select item 3029369	NM_032830.3(UTP4):c.1002+6T>C	UTP4	Single nucleotide variant (intron variant)	UTP4-related condition	GLikely benign
Select item 888318	NM_032830.3(UTP4):c.1083A>G (p.Gly361=)	UTP4	Single nucleotide variant (synonymous variant)	UTP4-related condition +2 more	GConflicting classifications of pathogenicity
Select item 3054716	NM_032830.3(UTP4):c.1164+6G>A	UTP4	Single nucleotide variant (intron variant)	UTP4-related condition	GLikely benign
Select item 717483	NM_032830.3(UTP4):c.1164+8A>G	UTP4	Single nucleotide variant (intron variant)	UTP4-related condition +2 more	GBenign/Likely benign
Select item 885207	NM_032830.3(UTP4):c.1165-7T>C	UTP4	Single nucleotide variant (intron variant)	UTP4-related condition +1 more	GConflicting classifications of pathogenicity
Select item 885208	NM_032830.3(UTP4):c.1183T>C (p.Cys395Arg)	UTP4 (C395R +1 more)	Single nucleotide variant (missense variant)	UTP4-related condition +2 more	GConflicting classifications of pathogenicity
Select item 885212	NM_032830.3(UTP4):c.1287+6T>C	UTP4	Single nucleotide variant (intron variant)	UTP4-related condition +2 more	GConflicting classifications of pathogenicity
Select item 885213	NM_032830.3(UTP4):c.1308C>T (p.Phe436=)	UTP4	Single nucleotide variant (synonymous variant)	UTP4-related condition +1 more	GConflicting classifications of pathogenicity
Select item 3044288	NM_032830.3(UTP4):c.1401A>T (p.Ser467=)	UTP4	Single nucleotide variant (synonymous variant)	UTP4-related condition	GLikely benign
Select item 886103	NM_032830.3(UTP4):c.1444+6A>C	UTP4	Single nucleotide variant (intron variant)	UTP4-related condition +1 more	GConflicting classifications of pathogenicity
Select item 3046312	NM_032830.3(UTP4):c.1458C>T (p.Ala486=)	UTP4	Single nucleotide variant (synonymous variant)	UTP4-related condition	GLikely benign
Select item 3054136	NM_032830.3(UTP4):c.1497A>G (p.Leu499=)	UTP4	Single nucleotide variant (synonymous variant)	UTP4-related condition	GLikely benign
Select item 3060618	NM_032830.3(UTP4):c.1503A>C (p.Ala501=)	UTP4	Single nucleotide variant (synonymous variant)	UTP4-related condition	GLikely benign
Select item 2634355	NM_032830.3(UTP4):c.1564G>A (p.Val522Met)	UTP4 (V439M +1 more)	Single nucleotide variant (missense variant)	UTP4-related condition	GUncertain significance
Select item 3054349	NM_032830.3(UTP4):c.1608C>G (p.Pro536=)	UTP4	Single nucleotide variant (synonymous variant)	UTP4-related condition	GLikely benign
Select item 886106	NM_032830.3(UTP4):c.1610A>G (p.Asn537Ser)	UTP4 (N454S +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 3031866	NM_032830.3(UTP4):c.1629C>T (p.Ile543=)	UTP4	Single nucleotide variant (synonymous variant)	UTP4-related condition	GLikely benign
Select item 3054578	NM_032830.3(UTP4):c.1648-10C>G	UTP4	Single nucleotide variant (intron variant)	UTP4-related condition	GLikely benign
Select item 3028993	NM_032830.3(UTP4):c.1797T>C (p.His599=)	UTP4	Single nucleotide variant (synonymous variant)	UTP4-related condition	GLikely benign
Select item 3030341	NM_032830.3(UTP4):c.1806C>T (p.Tyr602=)	UTP4	Single nucleotide variant (synonymous variant)	UTP4-related condition	GLikely benign
Select item 3054939	NM_032830.3(UTP4):c.1830A>G (p.Ser610=)	UTP4	Single nucleotide variant (synonymous variant)	UTP4-related condition	GLikely benign
Select item 2071263	NM_032830.3(UTP4):c.1907G>A (p.Arg636His)	UTP4 (R553H +1 more)	Single nucleotide variant (missense variant)	UTP4-related condition +1 more	GLikely benign
Select item 3030305	NM_032830.3(UTP4):c.1946C>A (p.Pro649His)	UTP4 (P566H +1 more)	Single nucleotide variant (missense variant)	UTP4-related condition	GUncertain significance
Select item 3060069	NM_032830.3(UTP4):c.*10C>T	UTP4	Single nucleotide variant (3 prime UTR variant)	UTP4-related condition	GLikely benign

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Items: 41