"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "PSAP"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 178315	NM_022124.6(CDH23):c.9629T>C (p.Ile3210Thr)	PSAP, CDH23 (I3210T +2 more)	Single nucleotide variant (missense variant)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 2054474	NM_002778.4(PSAP):c.1519G>C (p.Glu507Gln)	PSAP (E507Q +2 more)	Single nucleotide variant (missense variant)	Sphingolipid activator protein 1 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 559099	NM_002778.4(PSAP):c.1432-22C>T	PSAP	Single nucleotide variant (intron variant)	Combined PSAP deficiency +3 more	GBenign
Select item 94085	NM_002778.4(PSAP):c.1351-14A>G	CDH23, PSAP	Single nucleotide variant (intron variant)	Atypical Gaucher Disease +9 more	GBenign/Likely benign
Select item 258809	NM_002778.4(PSAP):c.1350+5G>A	PSAP, CDH23	Single nucleotide variant (intron variant)	Galactosylceramide beta-galactosidase deficiency +10 more	GBenign/Likely benign
Select item 1694038	NM_002778.4(PSAP):c.1350+4C>T	PSAP	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 258808	NM_002778.4(PSAP):c.1193-26G>A	PSAP	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 300514	NM_002778.4(PSAP):c.1172C>T (p.Thr391Met)	PSAP (T394M +2 more)	Single nucleotide variant (missense variant)	Krabbe disease due to saposin A deficiency +5 more	GConflicting classifications of pathogenicity
Select item 991966	NM_002778.4(PSAP):c.1137G>C (p.Glu379Asp)	PSAP (E379D +2 more)	Single nucleotide variant (missense variant)	Sphingolipid activator protein 1 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 559100	NM_002778.4(PSAP):c.1006-21C>T	PSAP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 94084	NM_002778.4(PSAP):c.1005+18C>T	PSAP	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 3379969	NM_002778.4(PSAP):c.956A>G (p.Glu319Gly)	PSAP (E319G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1665820	NM_002778.4(PSAP):c.721-13T>C	PSAP	Single nucleotide variant (intron variant)	Sphingolipid activator protein 1 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 3379970	NM_002778.4(PSAP):c.717C>G (p.Asp239Glu)	PSAP (D239E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 878088	NM_002778.4(PSAP):c.249+6C>T	PSAP	Single nucleotide variant (intron variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 2151565	NM_002778.4(PSAP):c.154G>A (p.Val52Ile)	PSAP (V52I)	Single nucleotide variant (missense variant)	Sphingolipid activator protein 1 deficiency +1 more	GUncertain significance
Select item 258806	NM_002778.4(PSAP):c.-4C>T	PSAP	Single nucleotide variant (5 prime UTR variant)	not specified +5 more	GBenign
Select item 258804	NM_002778.4(PSAP):c.-10A>G	PSAP	Single nucleotide variant (5 prime UTR variant)	not provided +5 more	GBenign