"Illumina Laboratory Services, Illumina"[submitter] AND "PSPH"[gene] - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 360493	NM_004577.4(PSPH):c.*649A>C	PSPH	Single nucleotide variant (3 prime UTR variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 911456	NM_004577.4(PSPH):c.*588G>A	PSPH	Single nucleotide variant (3 prime UTR variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 360494	NM_004577.4(PSPH):c.*490C>T	PSPH	Single nucleotide variant (3 prime UTR variant)	Deficiency of phosphoserine phosphatase	GBenign
Select item 908474	NM_004577.4(PSPH):c.*457C>T	PSPH	Single nucleotide variant (3 prime UTR variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 360495	NM_004577.4(PSPH):c.*406G>A	PSPH	Single nucleotide variant (3 prime UTR variant)	Deficiency of phosphoserine phosphatase	GBenign
Select item 360496	NM_004577.4(PSPH):c.*371A>G	PSPH	Single nucleotide variant (3 prime UTR variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 360497	NM_004577.4(PSPH):c.*361A>G	PSPH	Single nucleotide variant (3 prime UTR variant)	Deficiency of phosphoserine phosphatase	GBenign
Select item 360498	NM_004577.4(PSPH):c.*341G>A	PSPH	Single nucleotide variant (3 prime UTR variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 360499	NM_004577.4(PSPH):c.*317G>A	PSPH	Single nucleotide variant (3 prime UTR variant)	Deficiency of phosphoserine phosphatase	GLikely benign
Select item 360500	NM_004577.4(PSPH):c.*316C>T	PSPH	Single nucleotide variant (3 prime UTR variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 360501	NM_004577.4(PSPH):c.*309A>G	PSPH	Single nucleotide variant (3 prime UTR variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 909321	NM_004577.4(PSPH):c.*278C>T	PSPH	Single nucleotide variant (3 prime UTR variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 360502	NM_004577.4(PSPH):c.*277G>A	PSPH	Single nucleotide variant (3 prime UTR variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 360503	NM_004577.4(PSPH):c.*233dup	PSPH	Duplication (3 prime UTR variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 909322	NM_004577.4(PSPH):c.*203T>C	PSPH	Single nucleotide variant (3 prime UTR variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 909323	NM_004577.4(PSPH):c.*157C>T	PSPH	Single nucleotide variant (3 prime UTR variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 909324	NM_004577.4(PSPH):c.*46A>C	PSPH	Single nucleotide variant (3 prime UTR variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 909325	NM_004577.4(PSPH):c.*22A>G	PSPH	Single nucleotide variant (3 prime UTR variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 909326	NM_004577.4(PSPH):c.*12G>A	PSPH	Single nucleotide variant (3 prime UTR variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 360504	NM_004577.4(PSPH):c.*11C>T	PSPH	Single nucleotide variant (3 prime UTR variant)	Deficiency of phosphoserine phosphatase	GBenign
Select item 910292	NM_004577.4(PSPH):c.*8T>C	PSPH	Single nucleotide variant (3 prime UTR variant)	Deficiency of phosphoserine phosphatase	GBenign
Select item 391900	NM_004577.4(PSPH):c.650T>C (p.Val217Ala)	PSPH (V217A)	Single nucleotide variant (missense variant)	Deficiency of phosphoserine phosphatase +1 more	GConflicting classifications of pathogenicity
Select item 910293	NM_004577.4(PSPH):c.481G>A (p.Val161Met)	PSPH (V161M)	Single nucleotide variant (missense variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 360505	NM_004577.4(PSPH):c.455C>T (p.Thr152Ile)	PSPH (T152I)	Single nucleotide variant (missense variant)	Deficiency of phosphoserine phosphatase +1 more	GConflicting classifications of pathogenicity
Select item 360506	NM_004577.4(PSPH):c.249A>C (p.Gln83His)	PSPH (Q83H)	Single nucleotide variant (missense variant)	Deficiency of phosphoserine phosphatase	GLikely benign
Select item 910294	NM_004577.4(PSPH):c.235C>T (p.Leu79Phe)	PSPH (L79F)	Single nucleotide variant (missense variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 910295	NM_004577.4(PSPH):c.204C>A (p.Leu68=)	PSPH	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 911506	NM_004577.4(PSPH):c.203T>C (p.Leu68Pro)	PSPH (L68P)	Single nucleotide variant (missense variant)	Deficiency of phosphoserine phosphatase +1 more	GBenign
Select item 911507	NM_004577.4(PSPH):c.194G>A (p.Arg65His)	PSPH (R65H)	Single nucleotide variant (missense variant)	Deficiency of phosphoserine phosphatase +1 more	GBenign
Select item 911508	NM_004577.4(PSPH):c.189A>G (p.Thr63=)	PSPH	Single nucleotide variant (synonymous variant)	Deficiency of phosphoserine phosphatase +1 more	GBenign
Select item 911509	NM_004577.4(PSPH):c.169C>T (p.Pro57Ser)	PSPH (P57S)	Single nucleotide variant (missense variant)	Deficiency of phosphoserine phosphatase +1 more	GBenign
Select item 360507	NM_004577.4(PSPH):c.159C>T (p.Gly53=)	PSPH	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 360508	NM_004577.4(PSPH):c.149G>A (p.Arg50Gln)	PSPH (R50Q)	Single nucleotide variant (missense variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 360509	NM_004577.4(PSPH):c.146G>A (p.Arg49Gln)	PSPH (R49Q)	Single nucleotide variant (missense variant)	Deficiency of phosphoserine phosphatase	GLikely benign
Select item 360510	NM_004577.4(PSPH):c.145C>T (p.Arg49Trp)	PSPH (R49W)	Single nucleotide variant (missense variant)	Deficiency of phosphoserine phosphatase	GBenign
Select item 360511	NM_004577.4(PSPH):c.129G>A (p.Ala43=)	PSPH	Single nucleotide variant (synonymous variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 908537	NM_004577.4(PSPH):c.126C>T (p.Asp42=)	PSPH	Single nucleotide variant (synonymous variant)	Deficiency of phosphoserine phosphatase	GBenign
Select item 360512	NM_004577.4(PSPH):c.120T>A (p.Val40=)	PSPH	Single nucleotide variant (synonymous variant)	PSPH-related condition +1 more	GBenign/Likely benign
Select item 360513	NM_004577.4(PSPH):c.117C>T (p.Gly39=)	PSPH	Single nucleotide variant (synonymous variant)	Deficiency of phosphoserine phosphatase	GBenign
Select item 908538	NM_004577.4(PSPH):c.115G>A (p.Gly39Ser)	PSPH (G39S)	Single nucleotide variant (missense variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 360514	NM_004577.4(PSPH):c.95A>G (p.Asp32Gly)	PSPH (D32G)	Single nucleotide variant (missense variant)	Deficiency of phosphoserine phosphatase	GBenign/Likely benign
Select item 360515	NM_004577.4(PSPH):c.81A>T (p.Arg27Ser)	PSPH (R27S)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 360516	NM_004577.4(PSPH):c.72G>C (p.Thr24=)	PSPH	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 360517	NM_004577.4(PSPH):c.60T>C (p.Asp20=)	PSPH	Single nucleotide variant (synonymous variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 909402	NM_004577.4(PSPH):c.-19-4G>A	PSPH	Single nucleotide variant (intron variant)	Deficiency of phosphoserine phosphatase	GBenign
Select item 360518	NM_004577.4(PSPH):c.-19-13dup	PSPH	Duplication (intron variant)	Deficiency of phosphoserine phosphatase	GLikely benign
Select item 909403	NM_004577.4(PSPH):c.-22A>G	PSPH	Single nucleotide variant (5 prime UTR variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 909404	NM_004577.4(PSPH):c.-94G>A	PSPH	Single nucleotide variant (5 prime UTR variant +1 more)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 360519	NM_004577.4(PSPH):c.-130G>T	PSPH	Single nucleotide variant (5 prime UTR variant +2 more)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 360520	NM_004577.4(PSPH):c.-145-15A>G	PSPH	Single nucleotide variant (intron variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 360521	NM_004577.4(PSPH):c.-235_-213delinsC	PSPH	Indel (5 prime UTR variant +1 more)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 360522	NM_004577.4(PSPH):c.-228C>G	PSPH	Single nucleotide variant (5 prime UTR variant +1 more)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 360523	NM_004577.4(PSPH):c.-333C>T	LOC129998495, PSPH	Single nucleotide variant (5 prime UTR variant +1 more)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 360524	NM_004577.4(PSPH):c.-339T>C	LOC129998495, PSPH	Single nucleotide variant (5 prime UTR variant +1 more)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 360525	NM_004577.4(PSPH):c.-357C>T	LOC129998495, PSPH	Single nucleotide variant (5 prime UTR variant +1 more)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 910354	NM_004577.4(PSPH):c.-396C>G	PSPH	Single nucleotide variant (5 prime UTR variant +1 more)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 910355	NM_004577.4(PSPH):c.-429G>T	PSPH	Single nucleotide variant (5 prime UTR variant +1 more)	Deficiency of phosphoserine phosphatase	GBenign
Select item 360526	NM_004577.4(PSPH):c.-430T>G	PSPH	Single nucleotide variant (5 prime UTR variant +1 more)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 360527	NM_004577.4(PSPH):c.-442A>G	PSPH	Single nucleotide variant (5 prime UTR variant +1 more)	Deficiency of phosphoserine phosphatase	GLikely benign
Select item 360528	NM_004577.4(PSPH):c.-456T>C	PSPH	Single nucleotide variant (5 prime UTR variant +1 more)	Deficiency of phosphoserine phosphatase	GLikely benign
Select item 360529	NM_004577.4(PSPH):c.-461A>G	PSPH	Single nucleotide variant (5 prime UTR variant +1 more)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 360530	NM_004577.4(PSPH):c.-485A>G	PSPH	Single nucleotide variant (5 prime UTR variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 360531	NM_004577.4(PSPH):c.-519C>G	PSPH	Single nucleotide variant (5 prime UTR variant)	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 360532	NM_004577.3(PSPH):c.-632C>T	PSPH	Single nucleotide variant	Deficiency of phosphoserine phosphatase	GLikely benign
Select item 360533	NM_004577.3(PSPH):c.-681A>C	PSPH	Single nucleotide variant	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 360534	NM_004577.3(PSPH):c.-683G>C	PSPH	Single nucleotide variant	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 360536	NM_004577.3(PSPH):c.-708C>A	PSPH	Single nucleotide variant	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 360535	NM_004577.3(PSPH):c.-708C>G	PSPH	Single nucleotide variant	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 360537	NM_004577.3(PSPH):c.-711G>A	PSPH	Single nucleotide variant	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 360538	NM_004577.3(PSPH):c.-715T>C	PSPH	Single nucleotide variant	Deficiency of phosphoserine phosphatase	GUncertain significance
Select item 360539	NM_004577.3(PSPH):c.-720G>T	PSPH	Single nucleotide variant	Deficiency of phosphoserine phosphatase	GUncertain significance

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Items: 71