"Genetic Services Laboratory, University of Chicago"[submitter] AND "A - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 210211	NM_004722.4(AP4M1):c.32del (p.Lys11fs)	AP4M1 (K11fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 50 +1 more	GPathogenic/Likely pathogenic
Select item 659743	NM_004722.4(AP4M1):c.136C>G (p.Pro46Ala)	AP4M1 (P46A)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 210208	NM_004722.4(AP4M1):c.189C>T (p.Gly63=)	AP4M1	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 210209	NM_004722.4(AP4M1):c.228C>T (p.Pro76=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +3 more	GBenign/Likely benign
Select item 210210	NM_004722.4(AP4M1):c.279C>T (p.Tyr93=)	AP4M1	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 210212	NM_004722.4(AP4M1):c.333A>C (p.Glu111Asp)	AP4M1 (E111D +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50 +3 more	GConflicting classifications of pathogenicity
Select item 210213	NM_004722.4(AP4M1):c.458G>A (p.Gly153Asp)	AP4M1 (G153D +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50 +1 more	GUncertain significance
Select item 434241	NM_004722.4(AP4M1):c.544-6T>G	AP4M1	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 575434	NM_004722.4(AP4M1):c.611C>T (p.Ser204Phe)	AP4M1 (S204F +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 434242	NM_004722.4(AP4M1):c.673+7C>T	AP4M1	Single nucleotide variant (intron variant)	not specified +1 more	GUncertain significance
Select item 434243	NM_004722.4(AP4M1):c.753T>C (p.Asp251=)	AP4M1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 210214	NM_004722.4(AP4M1):c.762G>A (p.Ser254=)	AP4M1	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 210215	NM_004722.4(AP4M1):c.777G>A (p.Val259=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 50 +1 more	GLikely benign
Select item 128405	NM_004722.4(AP4M1):c.812G>A (p.Arg271His)	AP4M1 (R271H +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
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 218652	NM_004722.4(AP4M1):c.930G>A (p.Arg310=)	AP4M1	Single nucleotide variant (synonymous variant)	AP4M1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 210216	NM_004722.4(AP4M1):c.955T>C (p.Cys319Arg)	AP4M1 (C319R +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 128403	NM_004722.4(AP4M1):c.1002C>T (p.Leu334=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +2 more	GBenign/Likely benign
Select item 434244	NM_004722.4(AP4M1):c.1065G>A (p.Glu355=)	AP4M1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 434245	NM_004722.4(AP4M1):c.1069G>T (p.Ala357Ser)	AP4M1 (A357S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 210206	NM_004722.4(AP4M1):c.1128C>T (p.Gly376=)	AP4M1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 50 +1 more	GUncertain significance
Select item 699372	NM_004722.4(AP4M1):c.1140G>A (p.Met380Ile)	AP4M1 (M380I +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1336535	NM_004722.4(AP4M1):c.1190C>T (p.Ala397Val)	AP4M1 (A397V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 434247	NM_004722.4(AP4M1):c.1294G>A (p.Gly432Ser)	AP4M1 (G432S +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +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 +2 more	GBenign
Select item 210207	NM_004722.4(AP4M1):c.1342G>A (p.Ala448Thr)	AP4M1 (A448T +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 50 +4 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 +2 more	GUncertain significance

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Items: 27