"Genome-Nilou Lab"[submitter] AND "SMPD1"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 93311	NM_000543.5(SMPD1):c.107T>C (p.Val36Ala)	SMPD1 (V36A)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GBenign
Select item 256592	NM_000543.5(SMPD1):c.108GCTGGC[5] (p.38AL[5])	SMPD1	Microsatellite (inframe_deletion +2 more)	not specified +3 more	GBenign
Select item 1209797	NM_000543.5(SMPD1):c.152A>T (p.Asp51Val)	SMPD1 (D51V)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type B +3 more	GConflicting classifications of pathogenicity
Select item 281705	NM_000543.5(SMPD1):c.340G>A (p.Val114Met)	SMPD1 (V114M +1 more)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type A +5 more	GUncertain significance
Select item 203424	NM_000543.5(SMPD1):c.416T>C (p.Leu139Pro)	SMPD1 (L139P +1 more)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type B +2 more	GPathogenic/Likely pathogenic
Select item 371341	NM_000543.5(SMPD1):c.557C>T (p.Pro186Leu)	SMPD1 (P186L +1 more)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type A +3 more	GPathogenic
Select item 93319	NM_000543.5(SMPD1):c.636T>C (p.Asp212=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type B +3 more	GBenign
Select item 403463	NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg)	SMPD1 (P332R +2 more)	Single nucleotide variant (missense variant +1 more)	Sphingomyelin/cholesterol lipidosis +4 more	GConflicting classifications of pathogenicity
Select item 1209798	NM_000543.5(SMPD1):c.1022G>A (p.Arg341His)	SMPD1 (A21T +2 more)	Single nucleotide variant (missense variant +1 more)	Niemann-Pick disease, type B +1 more	GUncertain significance
Select item 93310	NM_000543.5(SMPD1):c.1071C>T (p.Ala357=)	SMPD1 (P37L)	Single nucleotide variant (synonymous variant +2 more)	Niemann-Pick disease, type A +5 more	GBenign/Likely benign
Select item 385606	NM_000543.5(SMPD1):c.1427G>A (p.Arg476Gln)	SMPD1 (R476Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 445832	NM_000543.5(SMPD1):c.1474G>A (p.Gly492Ser)	SMPD1 (G492S +3 more)	Single nucleotide variant (missense variant +1 more)	Niemann-Pick disease, type A +5 more	GUncertain significance
Select item 1177462	NM_000543.5(SMPD1):c.1487-36C>T	SMPD1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 93317	NM_000543.5(SMPD1):c.1522G>A (p.Gly508Arg)	SMPD1 (G508R +3 more)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type B +3 more	GBenign
Select item 256593	NM_000543.5(SMPD1):c.1749G>A (p.Ser583=)	SMPD1	Single nucleotide variant (synonymous variant +2 more)	not specified +3 more	GBenign
Select item 1209796	NM_000543.5(SMPD1):c.1810G>A (p.Asp604Asn)	SMPD1 (D297N +3 more)	Single nucleotide variant (missense variant +2 more)	Niemann-Pick disease, type B +1 more	GUncertain significance