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

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 157719	NM_001253852.3(AP4B1):c.1793-9C>G	AP4B1, AP4B1-AS1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 47 +2 more	GBenign
Select item 1336531	NM_001253852.3(AP4B1):c.1748G>A (p.Arg583His)	AP4B1, AP4B1-AS1 (R415H +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 588263	NM_001253852.3(AP4B1):c.1725C>T (p.Ile575=)	AP4B1, AP4B1-AS1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +3 more	GLikely benign
Select item 220727	NM_001253852.3(AP4B1):c.1723A>G (p.Ile575Val)	AP4B1, AP4B1-AS1 (I575V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 1344463	NM_001253852.3(AP4B1):c.1591C>T (p.Arg531Trp)	AP4B1, AP4B1-AS1 (R363W +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47 +1 more	GUncertain significance
Select item 663108	NM_001253852.3(AP4B1):c.1497G>T (p.Leu499Phe)	AP4B1, AP4B1-AS1 (L499F +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +1 more	GUncertain significance
Select item 1344453	NM_001253852.3(AP4B1):c.1489C>T (p.Arg497Cys)	AP4B1, AP4B1-AS1 (R329C +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 47 +1 more	GUncertain significance
Select item 1344446	NM_001253852.3(AP4B1):c.1485A>G (p.Leu495=)	AP4B1, AP4B1-AS1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia	GUncertain significance
Select item 157718	NM_001253852.3(AP4B1):c.1439T>C (p.Leu480Ser)	AP4B1, AP4B1-AS1 (L480S +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 157717	NM_001253852.3(AP4B1):c.1365T>C (p.Tyr455=)	AP4B1, AP4B1-AS1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 1344432	NM_001253852.3(AP4B1):c.1337A>G (p.His446Arg)	AP4B1, AP4B1-AS1 (H278R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 422147	NM_001253852.3(AP4B1):c.1216C>T (p.Arg406Ter)	AP4B1, AP4B1-AS1 (R406* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia +2 more	GPathogenic/Likely pathogenic
Select item 157716	NM_001253852.3(AP4B1):c.1189A>G (p.Ile397Val)	AP4B1, AP4B1-AS1 (I397V +2 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +4 more	GBenign/Likely benign
Select item 1336108	NM_001253852.3(AP4B1):c.1044G>A (p.Val348=)	AP4B1, AP4B1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1343960	NM_001253852.3(AP4B1):c.924A>G (p.Pro308=)	AP4B1, AP4B1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 157727	NM_001253852.3(AP4B1):c.803A>G (p.His268Arg)	AP4B1, AP4B1-AS1 (H268R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 218686	NM_001253852.3(AP4B1):c.767C>T (p.Thr256Ile)	AP4B1, AP4B1-AS1 (T256I +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 47 +5 more	GLikely benign
Select item 386852	NM_001253852.3(AP4B1):c.755T>C (p.Val252Ala)	AP4B1, AP4B1-AS1 (V252A +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 695489	NM_001253852.3(AP4B1):c.647C>A (p.Ala216Asp)	AP4B1, AP4B1-AS1 (A117D +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary spastic paraplegia 47 +3 more	GConflicting classifications of pathogenicity
Select item 1344485	NM_001253852.3(AP4B1):c.567G>A (p.Gln189=)	AP4B1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 1344483	NM_001253852.3(AP4B1):c.472G>A (p.Gly158Ser)	AP4B1 (G158S +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia	GUncertain significance
Select item 157722	NM_001253852.3(AP4B1):c.402A>C (p.Ser134=)	AP4B1	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia +3 more	GBenign
Select item 946401	NM_001253852.3(AP4B1):c.247G>C (p.Ala83Pro)	AP4B1 (A83P)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia +2 more	GUncertain significance
Select item 700613	NM_001253852.3(AP4B1):c.49C>T (p.Leu17=)	AP4B1, DCLRE1B +1 more	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 1343949	NM_006594.5(AP4B1):c.-77+5G>A	LOC129931235, AP4B1 +1 more	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia	GUncertain significance

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Items: 25