"GeneDx"[submitter] AND "PSPH"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
Select item 59596	GRCh38/hg38 7p12.1-11.2(chr7:52192528-57823293)x3	CCT6A, CHCHD2 +107 more	Copy number gain	See cases	GUncertain significance
Select item 391900	NM_004577.4(PSPH):c.650T>C (p.Val217Ala)	PSPH (V217A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 253758	GRCh37/hg19 7p11.2(chr7:55874737-56172217)x1	SUMF2, CCT6A +7 more	Copy number loss	See cases	GUncertain significance