C3280168[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 958040	NM_001244008.2(KIF1A):c.5269G>A (p.Ala1757Thr)	KIF1A (A1665T +15 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 9 +3 more	GConflicting classifications of pathogenicity
Select item 246454	NM_001244008.2(KIF1A):c.5131G>A (p.Asp1711Asn)	KIF1A (D1610N +14 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +5 more	GConflicting classifications of pathogenicity
Select item 930462	NM_001244008.2(KIF1A):c.5105G>A (p.Arg1702His)	KIF1A (R1727H +14 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +3 more	GUncertain significance
Select item 583308	NM_001244008.2(KIF1A):c.5095G>A (p.Val1699Met)	KIF1A (V1598M +14 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +4 more	GUncertain significance
Select item 377000	NM_001244008.2(KIF1A):c.5087G>A (p.Arg1696His)	KIF1A (R1595H +14 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +5 more	GConflicting classifications of pathogenicity
Select item 426987	NM_001244008.2(KIF1A):c.5029G>A (p.Val1677Ile)	KIF1A (V1576I +14 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 447657	NM_001244008.2(KIF1A):c.4955G>A (p.Arg1652Gln)	KIF1A (R1551Q +14 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +5 more	GConflicting classifications of pathogenicity
Select item 211292	NM_001244008.2(KIF1A):c.4927G>A (p.Asp1643Asn)	KIF1A (D1542N +14 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +6 more	GConflicting classifications of pathogenicity
Select item 532868	NM_001244008.2(KIF1A):c.4909G>A (p.Glu1637Lys)	KIF1A (E1637K +14 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +5 more	GConflicting classifications of pathogenicity
Select item 1338222	NM_001244008.2(KIF1A):c.4750G>A (p.Glu1584Lys)	KIF1A (E1482K +14 more)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 246243	NM_001244008.2(KIF1A):c.4511C>T (p.Thr1504Ile)	KIF1A (T1403I +14 more)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 1138295	NM_001244008.2(KIF1A):c.4032G>A (p.Ala1344=)	KIF1A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 2C +4 more	GLikely benign
Select item 447653	NM_001244008.2(KIF1A):c.3680C>T (p.Pro1227Leu)	KIF1A (P1126L +8 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 464232	NM_001244008.2(KIF1A):c.3670C>T (p.Arg1224Trp)	KIF1A (R1123W +8 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +4 more	GUncertain significance
Select item 1197186	NM_001244008.2(KIF1A):c.3609C>A (p.His1203Gln)	KIF1A (H1101Q +8 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +4 more	GUncertain significance
Select item 234725	NM_001244008.2(KIF1A):c.3494T>C (p.Ile1165Thr)	KIF1A (I1064T +8 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +7 more	GConflicting classifications of pathogenicity
Select item 464223	NM_001244008.2(KIF1A):c.3271G>C (p.Ala1091Pro)	KIF1A (A990P +8 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +5 more	GConflicting classifications of pathogenicity
Select item 1009584	NM_001244008.2(KIF1A):c.2341G>A (p.Ala781Thr)	KIF1A (A772T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 660749	NM_001244008.2(KIF1A):c.2248G>A (p.Val750Met)	KIF1A (V750M +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +4 more	GUncertain significance
Select item 451329	NM_001244008.2(KIF1A):c.1264C>T (p.Arg422Cys)	KIF1A (R413C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 1602805	NM_001244008.2(KIF1A):c.1208-14C>T	KIF1A	Single nucleotide variant (synonymous variant +1 more)	Neuropathy, hereditary sensory and autonomic, type 2A +3 more	GLikely benign
Select item 532875	NM_001244008.2(KIF1A):c.1064G>A (p.Arg355His)	KIF1A (R355H)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +5 more	GUncertain significance
Select item 245636	NM_001244008.2(KIF1A):c.760C>T (p.Arg254Trp)	KIF1A (R254W)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +5 more	GPathogenic/Likely pathogenic
Select item 392211	NM_001244008.2(KIF1A):c.204G>A (p.Ala68=)	KIF1A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory and autonomic, type 2A +5 more	GLikely benign

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Items: 24