C2673635[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 46071	NM_022124.6(CDH23):c.9319+11G>A	CDH23, PSAP	Single nucleotide variant (intron variant)	Atypical Gaucher Disease +9 more	GBenign/Likely benign
Select item 46072	NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu)	CDH23, PSAP (F3125L +1 more)	Single nucleotide variant (missense variant +1 more)	Atypical Gaucher Disease +9 more	GBenign/Likely benign
Select item 178843	NM_022124.6(CDH23):c.9510+13C>T	PSAP, CDH23	Single nucleotide variant (intron variant)	not specified +7 more	GBenign/Likely benign
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 46080	NM_022124.6(CDH23):c.9873G>A (p.Thr3291=)	CDH23, PSAP	Single nucleotide variant (synonymous variant)	Atypical Gaucher Disease +9 more	GBenign/Likely benign
Select item 258811	NM_002778.4(PSAP):c.1540-34C>T	PSAP	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
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 1180584	NM_002778.4(PSAP):c.1431+116C>T	PSAP	Single nucleotide variant (intron variant)	not provided +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 748866	NM_002778.4(PSAP):c.1281C>T (p.Ser427=)	PSAP	Single nucleotide variant (synonymous variant)	Sphingolipid activator protein 1 deficiency +2 more	GBenign/Likely benign
Select item 258808	NM_002778.4(PSAP):c.1193-26G>A	PSAP	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 94084	NM_002778.4(PSAP):c.1005+18C>T	PSAP	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 258812	NM_002778.4(PSAP):c.909+32G>T	PSAP	Single nucleotide variant (intron variant)	Combined PSAP deficiency +4 more	GBenign
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 1180557	NM_001042465.2(PSAP):c.-130T>C	PSAP	Single nucleotide variant	not provided +3 more	GBenign/Likely benign