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

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

Search results

Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2210111	NM_014298.6(QPRT):c.125C>T (p.Ser42Leu)	QPRT (S42L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2306758	NM_014298.6(QPRT):c.181G>T (p.Asp61Tyr)	QPRT (D61Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3150312	NM_014298.6(QPRT):c.281C>T (p.Ala94Val)	QPRT (A94V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150313	NM_014298.6(QPRT):c.320C>T (p.Thr107Met)	QPRT (T107M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3150314	NM_014298.6(QPRT):c.322C>G (p.Leu108Val)	QPRT (L108V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2547245	NM_014298.6(QPRT):c.328C>T (p.Arg110Cys)	QPRT (R110C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407068	NM_014298.6(QPRT):c.373G>A (p.Ala125Thr)	QPRT (A125T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332412	NM_014298.6(QPRT):c.404C>G (p.Ala135Gly)	QPRT (A135G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618070	NM_014298.6(QPRT):c.406G>C (p.Gly136Arg)	QPRT (G136R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150315	NM_014298.6(QPRT):c.478C>T (p.His160Tyr)	QPRT (H160Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150316	NM_014298.6(QPRT):c.481C>T (p.Arg161Cys)	QPRT (R161C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150317	NM_014298.6(QPRT):c.604T>C (p.Cys202Arg)	QPRT (C57R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495783	NM_014298.6(QPRT):c.618G>C (p.Gln206His)	QPRT (Q58H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550612	NM_014298.6(QPRT):c.643G>C (p.Gly215Arg)	QPRT (G67R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459302	NM_014298.6(QPRT):c.722C>T (p.Pro241Leu)	QPRT (P241L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150319	NM_014298.6(QPRT):c.772C>G (p.Gln258Glu)	QPRT (Q110E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3150318	NM_014298.6(QPRT):c.772C>A (p.Gln258Lys)	QPRT (Q110K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467983	NM_014298.6(QPRT):c.887T>G (p.Ile296Ser)	QPRT (I148S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance