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

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 644380	NM_015087.5(SPART):c.1909G>A (p.Glu637Lys)	SPART (E637K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 695814	NM_015087.5(SPART):c.1689C>T (p.Ile563=)	SPART	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 641719	NM_015087.5(SPART):c.1655T>G (p.Val552Gly)	SPART (V552G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 130368	NM_015087.5(SPART):c.1629A>G (p.Ala543=)	SPART	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 530401	NM_015087.5(SPART):c.1309G>T (p.Gly437Cys)	SPART (G437C)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +2 more	GUncertain significance
Select item 216687	NM_015087.5(SPART):c.1172A>G (p.Asp391Gly)	SPART (D391G)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 240963	NM_015087.5(SPART):c.1127A>G (p.Asn376Ser)	SPART (N376S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 1344109	NM_015087.5(SPART):c.918T>A (p.Phe306Leu)	SPART (F306L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 450101	NM_015087.5(SPART):c.862T>C (p.Cys288Arg)	SPART (C288R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1344108	NM_015087.5(SPART):c.843T>A (p.Asp281Glu)	SPART (D281E)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344107	NM_015087.5(SPART):c.815G>A (p.Cys272Tyr)	SPART (C272Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 415529	NM_015087.5(SPART):c.798C>T (p.Pro266=)	SPART	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 1301716	NM_015087.5(SPART):c.466C>T (p.Pro156Ser)	SPART (P156S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 380930	NM_015087.5(SPART):c.363C>T (p.Asp121=)	SPART	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 216688	NM_015087.5(SPART):c.361G>T (p.Asp121Tyr)	SPART (D121Y)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 1344106	NM_015087.5(SPART):c.340T>C (p.Tyr114His)	SPART (Y114H)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1000893	NM_015087.5(SPART):c.265C>T (p.Arg89Cys)	SPART (R89C)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +2 more	GUncertain significance
Select item 215884	NM_015087.5(SPART):c.75A>G (p.Leu25=)	SPART	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity