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

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1344095	NM_004722.4(AP4M1):c.146T>A (p.Met49Lys)	AP4M1 (M49K)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 210209	NM_004722.4(AP4M1):c.228C>T (p.Pro76=)	AP4M1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 1344103	NM_004722.4(AP4M1):c.255-4T>C	AP4M1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 376829	NM_004722.4(AP4M1):c.380C>T (p.Thr127Met)	AP4M1 (T127M +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50 +3 more	GUncertain significance
Select item 678005	NM_004722.4(AP4M1):c.462+34G>A	AP4M1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 50 +2 more	GBenign
Select item 575434	NM_004722.4(AP4M1):c.611C>T (p.Ser204Phe)	AP4M1 (S204F +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +2 more	GUncertain significance
Select item 1344116	NM_004722.4(AP4M1):c.643C>T (p.Arg215Trp)	AP4M1 (R215W +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50 +1 more	GUncertain significance
Select item 1344123	NM_004722.4(AP4M1):c.752A>G (p.Asp251Gly)	AP4M1 (D251G +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344127	NM_004722.4(AP4M1):c.790T>C (p.Phe264Leu)	AP4M1 (F264L +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 1336675	NM_004722.4(AP4M1):c.862G>A (p.Asp288Asn)	AP4M1 (D288N +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +1 more	GUncertain significance
Select item 561150	NM_004722.4(AP4M1):c.916C>T (p.Arg306Ter)	AP4M1 (R306* +1 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 575767	NM_004722.4(AP4M1):c.929+5G>A	AP4M1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 218652	NM_004722.4(AP4M1):c.930G>A (p.Arg310=)	AP4M1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1344140	NM_004722.4(AP4M1):c.975-6C>G	AP4M1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 128403	NM_004722.4(AP4M1):c.1002C>T (p.Leu334=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +3 more	GBenign/Likely benign
Select item 1344073	NM_004722.4(AP4M1):c.1044C>T (p.Ser348=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +1 more	GUncertain significance
Select item 386884	NM_004722.4(AP4M1):c.1100G>A (p.Arg367Gln)	AP4M1 (R367Q +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50 +2 more	GUncertain significance
Select item 1344081	NM_004722.4(AP4M1):c.1265G>A (p.Arg422Gln)	AP4M1 (R422Q +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50 +2 more	GUncertain significance
Select item 700583	NM_004722.4(AP4M1):c.1293C>T (p.Cys431=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 50 +1 more	GConflicting classifications of pathogenicity
Select item 434247	NM_004722.4(AP4M1):c.1294G>A (p.Gly432Ser)	AP4M1 (G432S +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50 +3 more	GUncertain significance
Select item 128404	NM_004722.4(AP4M1):c.1305C>T (p.Asn435=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +3 more	GBenign
Select item 210207	NM_004722.4(AP4M1):c.1342G>A (p.Ala448Thr)	AP4M1 (A448T +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 434246	NM_004722.4(AP4M1):c.1357A>G (p.Ile453Val)	AP4M1 (I453V +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50 +2 more	GUncertain significance
Select item 1344067	NM_004722.4(AP4M1):c.*23C>T	AP4M1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia	GLikely benign
Select item 1344059	NM_004722.4(AP4M1):c.*124G>A	AP4M1	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia +1 more	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 25