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

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 696459	NM_152415.3(VPS37A):c.24C>T (p.Thr8=)	VPS37A	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1344179	NM_152415.3(VPS37A):c.96G>T (p.Leu32=)	VPS37A	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 509802	NM_152415.3(VPS37A):c.125+8G>A	VPS37A	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 1344172	NM_152415.3(VPS37A):c.398C>G (p.Thr133Ser)	VPS37A (T108S +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 696976	NM_152415.3(VPS37A):c.418C>T (p.Leu140=)	VPS37A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +1 more	GBenign/Likely benign
Select item 1344173	NM_152415.3(VPS37A):c.539C>G (p.Ser180Cys)	VPS37A (S155C +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344174	NM_152415.3(VPS37A):c.556C>A (p.His186Asn)	VPS37A (H161N +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 383980	NM_152415.3(VPS37A):c.616A>T (p.Ile206Phe)	VPS37A (I206F +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 284157	NM_152415.3(VPS37A):c.637A>G (p.Ile213Val)	VPS37A (I213V +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +3 more	GBenign/Likely benign
Select item 1107859	NM_152415.3(VPS37A):c.642+10G>A	VPS37A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 53 +1 more	GConflicting classifications of pathogenicity
Select item 1344175	NM_152415.3(VPS37A):c.648C>A (p.Ser216Arg)	VPS37A (S126R +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1044520	NM_152415.3(VPS37A):c.812A>G (p.Asp271Gly)	VPS37A (D246G +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 53 +1 more	GUncertain significance
Select item 1344176	NM_152415.3(VPS37A):c.853C>G (p.Leu285Val)	VPS37A (L195V +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344177	NM_152415.3(VPS37A):c.928A>G (p.Thr310Ala)	VPS37A (T214A +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1344178	NM_152415.3(VPS37A):c.929C>T (p.Thr310Ile)	VPS37A (T214I +4 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 473067	NM_152415.3(VPS37A):c.1176A>G (p.Gln392=)	VPS37A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 53 +1 more	GBenign/Likely benign