"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1344321	NM_001776.5(ENTPD1):c.-86A>C	ENTPD1, ENTPD1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 374088	NM_001776.6(ENTPD1):c.25G>A (p.Val9Met)	ENTPD1, ENTPD1-AS1 (V16M +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia +4 more	GUncertain significance
Select item 1344315	NM_001776.6(ENTPD1):c.139G>A (p.Val47Ile)	ENTPD1, ENTPD1-AS1 (V47I +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344318	NM_001776.6(ENTPD1):c.376G>A (p.Val126Ile)	ENTPD1, ENTPD1-AS1 (V126I +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344319	NM_001776.6(ENTPD1):c.424G>C (p.Glu142Gln)	ENTPD1, ENTPD1-AS1 (E142Q +4 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 64 +3 more	GUncertain significance
Select item 1344320	NM_001776.6(ENTPD1):c.691G>A (p.Glu231Lys)	ENTPD1, ENTPD1-AS1 (E123K +4 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 64 +1 more	GUncertain significance
Select item 705302	NM_001776.6(ENTPD1):c.834C>T (p.Leu278=)	ENTPD1-AS1, ENTPD1	Single nucleotide variant (non-coding transcript variant +2 more)	Hereditary spastic paraplegia 64 +2 more	GConflicting classifications of pathogenicity
Select item 703843	NM_001776.6(ENTPD1):c.877G>A (p.Val293Ile)	ENTPD1, ENTPD1-AS1 (V155I +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 64 +2 more	GBenign
Select item 965980	NM_001776.6(ENTPD1):c.920T>A (p.Met307Lys)	ENTPD1, ENTPD1-AS1 (M199K +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia +1 more	GUncertain significance
Select item 541703	NM_001776.6(ENTPD1):c.1020C>T (p.Tyr340=)	ENTPD1, ENTPD1-AS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1344309	NM_001776.6(ENTPD1):c.1026G>A (p.Gln342=)	ENTPD1, ENTPD1-AS1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344311	NM_001776.6(ENTPD1):c.1110A>T (p.Leu370Phe)	ENTPD1, ENTPD1-AS1 (L232F +5 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344312	NM_001776.6(ENTPD1):c.1119A>G (p.Thr373=)	ENTPD1, ENTPD1-AS1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344313	NM_001776.6(ENTPD1):c.1149T>A (p.Thr383=)	ENTPD1, ENTPD1-AS1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344314	NM_001776.6(ENTPD1):c.1289C>T (p.Thr430Ile)	ENTPD1, ENTPD1-AS1 (T292I +5 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 64 +1 more	GUncertain significance
Select item 541701	NM_001776.6(ENTPD1):c.1333G>C (p.Gly445Arg)	ENTPD1, ENTPD1-AS1 (G452R +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 704012	NM_001776.6(ENTPD1):c.1338C>T (p.Ser446=)	ENTPD1, ENTPD1-AS1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 64 +1 more	GConflicting classifications of pathogenicity
Select item 1344316	NM_001776.6(ENTPD1):c.1411C>G (p.Pro471Ala)	ENTPD1, ENTPD1-AS1 (P333A +5 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 64 +1 more	GUncertain significance
Select item 498850	NM_001776.6(ENTPD1):c.1479C>G (p.Ile493Met)	ENTPD1, ENTPD1-AS1 (I493M +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 706176	NM_001776.6(ENTPD1):c.1494C>T (p.Ile498=)	ENTPD1, ENTPD1-AS1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 64 +1 more	GBenign/Likely benign
Select item 1344308	NM_001776.6(ENTPD1):c.*6948del	ENTPD1, ENTPD1-AS1	Deletion (3 prime UTR variant +1 more)	Hereditary spastic paraplegia	GUncertain significance

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Items: 21