"Ambry Genetics"[submitter] AND "PQBP1"[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2538156	NM_001032382.2(PQBP1):c.68A>C (p.Glu23Ala)	PQBP1 (E23A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 444803	NM_001032382.2(PQBP1):c.73G>A (p.Glu25Lys)	PQBP1 (E25K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2278470	NM_001032382.2(PQBP1):c.161A>T (p.Lys54Met)	PQBP1 (K54M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 95309	NM_001032382.2(PQBP1):c.180-3C>T	PQBP1	Single nucleotide variant (intron variant)	History of neurodevelopmental disorder +3 more	GBenign
Select item 521007	NM_001032382.2(PQBP1):c.232C>T (p.Pro78Ser)	PQBP1 (P78S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely pathogenic
Select item 589395	NM_001032382.2(PQBP1):c.249C>T (p.Ser83=)	PQBP1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 95310	NM_001032382.2(PQBP1):c.264G>A (p.Ser88=)	PQBP1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 521040	NM_001032382.2(PQBP1):c.265G>T (p.Ala89Ser)	PQBP1 (A89S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 589632	NM_001032382.2(PQBP1):c.266C>T (p.Ala89Val)	PQBP1 (A89V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1730067	NM_001032382.2(PQBP1):c.330G>A (p.Ser110=)	PQBP1	Single nucleotide variant (intron variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 378420	NM_001032382.2(PQBP1):c.356G>A (p.Arg119His)	PQBP1 (R119H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 986233	NM_001032382.2(PQBP1):c.376A>T (p.Arg126Trp)	PQBP1 (R118W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 284597	NM_001032382.2(PQBP1):c.393_413del (p.127GHDKSDR[1])	PQBP1	Deletion (inframe_deletion +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2530587	NM_001032382.2(PQBP1):c.434G>A (p.Gly145Asp)	PQBP1 (G137D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 10980	NM_001032382.2(PQBP1):c.459_462del (p.Arg153fs)	PQBP1 (R145fs +1 more)	Microsatellite (frameshift variant +1 more)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic
Select item 521346	NM_001032382.2(PQBP1):c.458G>A (p.Arg153Lys)	PQBP1 (R153K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1949056	NM_001032382.2(PQBP1):c.459A>C (p.Arg153Ser)	PQBP1 (R145S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2330018	NM_001032382.2(PQBP1):c.460G>A (p.Glu154Lys)	PQBP1 (E146K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 816841	NM_001032382.2(PQBP1):c.463C>T (p.Arg155Ter)	PQBP1 (R147* +1 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases +1 more	GLikely pathogenic
Select item 436409	NM_001032382.2(PQBP1):c.489C>T (p.Arg163=)	PQBP1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 988712	NM_001032382.2(PQBP1):c.508C>T (p.Arg170Trp)	PQBP1 (R162W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 983218	NM_001032382.2(PQBP1):c.539G>A (p.Arg180His)	PQBP1 (R172H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 985182	NM_001032382.2(PQBP1):c.575A>C (p.Lys192Thr)	PQBP1 (K184T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 722763	NM_001032382.2(PQBP1):c.633C>T (p.Asp211=)	PQBP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 588237	NM_001032382.2(PQBP1):c.635C>A (p.Ala212Asp)	PQBP1 (A212D +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1758367	NM_001032382.2(PQBP1):c.732G>A (p.Pro244=)	PQBP1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 521458	NM_001032382.2(PQBP1):c.743del (p.Pro248fs)	PQBP1 (P153fs +4 more)	Deletion (frameshift variant)	not provided +1 more	GUncertain significance
Select item 590224	NM_001032382.2(PQBP1):c.784A>G (p.Lys262Glu)	PQBP1 (K262E +4 more)	Single nucleotide variant (missense variant)	History of neurodevelopmental disorder +1 more	GUncertain significance

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Items: 28