"Revvity Omics, Revvity"[submitter] AND "POGLUT1"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 126528	NM_152305.3(POGLUT1):c.11G>A (p.Trp4Ter)	POGLUT1 (W4*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 2435126	NM_152305.3(POGLUT1):c.17G>C (p.Ser6Thr)	POGLUT1 (S6T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2435125	NM_152305.3(POGLUT1):c.167G>A (p.Cys56Tyr)	POGLUT1 (C56Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2435124	NM_152305.3(POGLUT1):c.257G>A (p.Gly86Glu)	POGLUT1 (G86E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1708167	NM_152305.3(POGLUT1):c.292C>T (p.Arg98Trp)	POGLUT1	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 860230	NM_152305.3(POGLUT1):c.362G>A (p.Arg121His)	POGLUT1 (R121H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2435127	NM_152305.3(POGLUT1):c.394C>T (p.Arg132Ter)	POGLUT1 (R132*)	Single nucleotide variant (nonsense +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1298932	NM_152305.3(POGLUT1):c.466T>A (p.Tyr156Asn)	POGLUT1 (Y156N)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 650615	NM_152305.3(POGLUT1):c.548G>A (p.Arg183Gln)	POGLUT1 (R183Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 620272	NM_152305.3(POGLUT1):c.552G>A (p.Trp184Ter)	POGLUT1 (W184*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 1324946	NM_152305.3(POGLUT1):c.628C>T (p.Arg210Ter)	POGLUT1 (R210*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 664362	NM_152305.3(POGLUT1):c.733A>G (p.Met245Val)	POGLUT1 (M245V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2153429	NM_152305.3(POGLUT1):c.983T>G (p.Val328Gly)	POGLUT1 (V328G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2435123	NM_152305.3(POGLUT1):c.1012A>G (p.Ile338Val)	POGLUT1 (I338V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2051728	NM_152305.3(POGLUT1):c.1022+5G>A	POGLUT1	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 2435122	NM_152305.3(POGLUT1):c.1043A>G (p.Asn348Ser)	POGLUT1 (N348S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2155594	NM_152305.3(POGLUT1):c.1124C>T (p.Thr375Met)	POGLUT1 (T375M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 959542	NM_152305.3(POGLUT1):c.1147A>G (p.Ile383Val)	POGLUT1 (I383V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2172249	NM_152305.3(POGLUT1):c.1177T>C (p.Ter393Gln)	POGLUT1	Single nucleotide variant (stop lost +1 more)	not provided	GUncertain significance