"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "KIF1A"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1032199	NM_001244008.2(KIF1A):c.5350AGG[1] (p.Arg1785del)	KIF1A (R1701del +15 more)	Microsatellite (inframe_deletion)	Intellectual disability, autosomal dominant 9 +3 more	GUncertain significance
Select item 282386	NM_001244008.2(KIF1A):c.5168C>T (p.Ala1723Val)	KIF1A (A1723V +14 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 9 +6 more	GConflicting classifications of pathogenicity
Select item 464259	NM_001244008.2(KIF1A):c.5155G>A (p.Val1719Met)	KIF1A (V1618M +14 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +4 more	GConflicting classifications of pathogenicity
Select item 498890	NM_001244008.2(KIF1A):c.5015G>A (p.Arg1672Gln)	KIF1A (R1571Q +14 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 464256	NM_001244008.2(KIF1A):c.4985G>A (p.Arg1662His)	KIF1A (R1561H +14 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +3 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 211290	NM_001244008.2(KIF1A):c.4781C>T (p.Ser1594Leu)	KIF1A (S1493L +14 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 1693859	NM_001244008.2(KIF1A):c.4762A>G (p.Thr1588Ala)	KIF1A (T1486A +14 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 836503	NM_001244008.2(KIF1A):c.4639G>C (p.Glu1547Gln)	KIF1A (E1446Q +14 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 642665	NM_001244008.2(KIF1A):c.4307C>T (p.Ala1436Val)	KIF1A (A1344V +14 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1693860	NM_001244008.2(KIF1A):c.4057C>T (p.Leu1353Phe)	KIF1A (L1251F +14 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +3 more	GConflicting classifications of pathogenicity
Select item 704314	NM_001244008.2(KIF1A):c.3871C>T (p.Arg1291Cys)	KIF1A, LOC126806583 (R1190C +8 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
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 391694	NM_001244008.2(KIF1A):c.3160G>A (p.Val1054Met)	KIF1A (V1054M +7 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 464220	NM_001244008.2(KIF1A):c.2479C>T (p.Arg827Cys)	KIF1A (R818C +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +4 more	GConflicting classifications of pathogenicity
Select item 1693861	NM_001244008.2(KIF1A):c.1762C>A (p.Arg588Ser)	KIF1A (R579S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1418101	NM_001244008.2(KIF1A):c.1393C>T (p.Arg465Trp)	KIF1A (R481W +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +3 more	GUncertain significance
Select item 1756423	NM_001244008.2(KIF1A):c.1234C>T (p.Pro412Ser)	KIF1A (P428S +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2682824	NM_001244008.2(KIF1A):c.883-6C>G	KIF1A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 565820	NM_001244008.2(KIF1A):c.608+3G>A	KIF1A	Single nucleotide variant (intron variant)	not provided +4 more	GUncertain significance

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Items: 21