"Ambry Genetics"[submitter] AND "PF4"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3305857	NM_002619.4(PF4):c.286A>G (p.Lys96Glu)	PF4 (K96E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488863	NM_002619.4(PF4):c.200G>T (p.Cys67Phe)	PF4 (C67F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211526	NM_002619.4(PF4):c.190G>A (p.Gly64Arg)	PF4 (G73R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211525	NM_002619.4(PF4):c.175G>C (p.Glu59Gln)	PF4 (E68Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510709	NM_002619.4(PF4):c.167C>A (p.Thr56Asn)	PF4 (T56N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211524	NM_002619.4(PF4):c.135G>T (p.Lys45Asn)	PF4 (K45N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492812	NM_002619.4(PF4):c.52G>A (p.Gly18Arg)	PF4 (G18R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2329337	NM_002619.4(PF4):c.38G>A (p.Gly13Glu)	PF4 (G13E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2403280	NM_002619.4(PF4):c.19T>C (p.Phe7Leu)	PF4 (F7L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance