"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "KIF1A"[ - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 464209	Single allele	KIF1A	Duplication	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 464210	Single allele	KIF1A, LOC126806583	Duplication	Hereditary spastic paraplegia 30 +2 more	GBenign
Select item 2946782	NM_001244008.2(KIF1A):c.5367_*11del (p.Met1789_Ter1792delinsXaa)	KIF1A	Deletion (stop lost)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 660141	NC_000002.11:g.(?_241656771)_(241709123_?)dup	KIF1A, LOC126806583	Duplication	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 656835	NC_000002.11:g.(?_241656771)_(241709133_?)dup	KIF1A, LOC126806583	Duplication	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 1441216	NM_001244008.2(KIF1A):c.5371G>T (p.Val1791Phe)	KIF1A (V1698F +15 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 2937493	NM_001244008.2(KIF1A):c.5369G>C (p.Arg1790Pro)	KIF1A (R1677P +15 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 1344384	NM_001244008.2(KIF1A):c.5369G>A (p.Arg1790Gln)	KIF1A (R1677Q +15 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +4 more	GConflicting classifications of pathogenicity
Select item 2936450	NM_001244008.2(KIF1A):c.5368C>G (p.Arg1790Gly)	KIF1A (R1677G +15 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 588370	NM_001244008.2(KIF1A):c.5368C>T (p.Arg1790Trp)	KIF1A (R1689W +15 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +5 more	GConflicting classifications of pathogenicity
Select item 2026401	NM_001244008.2(KIF1A):c.5359G>T (p.Ala1787Ser)	KIF1A (A1686S +15 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 1032199	NM_001244008.2(KIF1A):c.5350AGG[1] (p.Arg1785del)	KIF1A (R1701del +15 more)	Microsatellite (inframe_deletion)	Hereditary spastic paraplegia 30 +3 more	GUncertain significance
Select item 464260	NM_001244008.2(KIF1A):c.5355G>T (p.Arg1785Ser)	KIF1A (R1785S +15 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1673901	NM_001244008.2(KIF1A):c.5352G>A (p.Arg1784=)	KIF1A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 2C +2 more	GLikely benign
Select item 2939851	NM_001244008.2(KIF1A):c.5351G>C (p.Arg1784Thr)	KIF1A (R1682T +15 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 1669550	NM_001244008.2(KIF1A):c.5349A>G (p.Arg1783=)	KIF1A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 2C +2 more	GLikely benign
Select item 2952528	NM_001244008.2(KIF1A):c.5344T>C (p.Ser1782Pro)	KIF1A (S1699P +15 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 2938239	NM_001244008.2(KIF1A):c.5339A>C (p.Lys1780Thr)	KIF1A (K1704T +15 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 1401299	NM_001244008.2(KIF1A):c.5339A>G (p.Lys1780Arg)	KIF1A (K1687R +15 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 2C +2 more	GLikely benign
Select item 1476119	NM_001244008.2(KIF1A):c.5334G>A (p.Arg1778=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 532900	NM_001244008.2(KIF1A):c.5334-4G>A	KIF1A	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory, type 2C +3 more	GConflicting classifications of pathogenicity
Select item 1544376	NM_001244008.2(KIF1A):c.5334-18del	KIF1A	Deletion (intron variant)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 1550484	NM_001244008.2(KIF1A):c.5333+20G>A	KIF1A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 1434468	NM_001244008.2(KIF1A):c.5333+19C>T	KIF1A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 1622878	NM_001244008.2(KIF1A):c.5333+18G>A	KIF1A	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory, type 2C +2 more	GLikely benign
Select item 532905	NM_001244008.2(KIF1A):c.5333+8C>T	KIF1A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 1900642	NM_001244008.2(KIF1A):c.5333+7C>T	KIF1A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 847187	NM_001244008.2(KIF1A):c.5333G>A (p.Arg1778Gln)	KIF1A (R1695Q +15 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 655534	NM_001244008.2(KIF1A):c.5332C>T (p.Arg1778Trp)	KIF1A (R1711W +15 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1955533	NM_001244008.2(KIF1A):c.5328C>T (p.Thr1776=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 211295	NM_001244008.2(KIF1A):c.5322C>T (p.Ala1774=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +4 more	GConflicting classifications of pathogenicity
Select item 1489485	NM_001244008.2(KIF1A):c.5320G>T (p.Ala1774Ser)	KIF1A (A1681S +15 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 2125975	NM_001244008.2(KIF1A):c.5313_5314delinsAG (p.Leu1772Val)	KIF1A (L1680V +15 more)	Indel (missense variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 2150982	NM_001244008.2(KIF1A):c.5302G>A (p.Ala1768Thr)	KIF1A (A1676T +15 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 945941	NM_001244008.2(KIF1A):c.5302G>T (p.Ala1768Ser)	KIF1A (A1667S +15 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 2C +2 more	GLikely benign
Select item 702819	NM_001244008.2(KIF1A):c.5301C>T (p.Tyr1767=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +3 more	GLikely benign
Select item 1496661	NM_001244008.2(KIF1A):c.5291A>G (p.Asp1764Gly)	KIF1A (D1688G +15 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 2C +2 more	GUncertain significance
Select item 726313	NM_001244008.2(KIF1A):c.5289T>C (p.His1763=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 2948401	NM_001244008.2(KIF1A):c.5281G>T (p.Asp1761Tyr)	KIF1A (D1752Y +15 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 2201376	NM_001244008.2(KIF1A):c.5275G>C (p.Asp1759His)	KIF1A (D1675H +15 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 1344383	NM_001244008.2(KIF1A):c.5274C>T (p.Ser1758=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 1574773	NM_001244008.2(KIF1A):c.5271C>T (p.Ala1757=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 1392494	NM_001244008.2(KIF1A):c.5270C>T (p.Ala1757Val)	KIF1A (A1656V +15 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 2160067	NM_001244008.2(KIF1A):c.5269G>T (p.Ala1757Ser)	KIF1A (A1655S +15 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 958040	NM_001244008.2(KIF1A):c.5269G>A (p.Ala1757Thr)	KIF1A (A1665T +15 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +3 more	GConflicting classifications of pathogenicity
Select item 706973	NM_001244008.2(KIF1A):c.5268C>T (p.Ala1756=)	KIF1A	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
Select item 2060548	NM_001244008.2(KIF1A):c.5254A>T (p.Ile1752Phe)	KIF1A (I1685F +15 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 1973194	NM_001244008.2(KIF1A):c.5254A>G (p.Ile1752Val)	KIF1A (I1639V +15 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 2C +2 more	GLikely benign
Select item 1480148	NM_001244008.2(KIF1A):c.5253C>T (p.Gly1751=)	KIF1A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 2C +2 more	GLikely benign
Select item 1111221	NM_001244008.2(KIF1A):c.5253C>G (p.Gly1751=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 953599	NM_001244008.2(KIF1A):c.5251G>A (p.Gly1751Ser)	KIF1A (G1659S +15 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 2C +2 more	GUncertain significance
Select item 515573	NM_001244008.2(KIF1A):c.5250C>T (p.Arg1750=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +5 more	GLikely benign
Select item 2109515	NM_001244008.2(KIF1A):c.5249G>A (p.Arg1750His)	KIF1A (R1674H +15 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +3 more	GConflicting classifications of pathogenicity
Select item 572111	NM_001244008.2(KIF1A):c.5248C>T (p.Arg1750Cys)	KIF1A (R1750C +15 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 2C +2 more	GLikely benign
Select item 532908	NM_001244008.2(KIF1A):c.5241G>A (p.Thr1747=)	KIF1A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GLikely benign
Select item 588551	NM_001244008.2(KIF1A):c.5232G>A (p.Ala1744=)	KIF1A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 1441910	NM_001244008.2(KIF1A):c.5231C>T (p.Ala1744Val)	KIF1A (A1660V +15 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 721387	NM_001244008.2(KIF1A):c.5229C>T (p.Phe1743=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 723147	NM_001244008.2(KIF1A):c.5226A>G (p.Thr1742=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 2950295	NM_001244008.2(KIF1A):c.5222A>G (p.Asn1741Ser)	KIF1A (N1639S +15 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 2028998	NM_001244008.2(KIF1A):c.5220C>G (p.Pro1740=)	KIF1A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 2C +2 more	GLikely benign
Select item 996858	NM_001244008.2(KIF1A):c.5216C>T (p.Thr1739Ile)	KIF1A (T1626I +15 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 9 +2 more	GUncertain significance
Select item 1610402	NM_001244008.2(KIF1A):c.5215-8C>T	KIF1A	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory, type 2C +2 more	GLikely benign
Select item 1534068	NM_001244008.2(KIF1A):c.5215-10C>T	KIF1A	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory, type 2C +2 more	GLikely benign
Select item 1648648	NM_001244008.2(KIF1A):c.5215-12C>T	KIF1A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 2060041	NM_001244008.2(KIF1A):c.5215-13C>T	KIF1A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 2928126	NM_001244008.2(KIF1A):c.5215-18A>G	KIF1A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 2953397	NM_001244008.2(KIF1A):c.5214+16G>A	KIF1A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 1627524	NM_001244008.2(KIF1A):c.5214+16G>T	KIF1A	Single nucleotide variant (intron variant)	not specified +3 more	GLikely benign
Select item 1603289	NM_001244008.2(KIF1A):c.5214+15G>A	KIF1A	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory, type 2C +2 more	GLikely benign
Select item 2943028	NM_001244008.2(KIF1A):c.5214+14C>A	KIF1A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 385720	NM_001244008.2(KIF1A):c.5214+14C>T	KIF1A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 30 +3 more	GConflicting classifications of pathogenicity
Select item 1656032	NM_001244008.2(KIF1A):c.5214+12C>T	KIF1A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 2925915	NM_001244008.2(KIF1A):c.5214+11G>A	KIF1A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 941539	NM_001244008.2(KIF1A):c.5214+5G>A	KIF1A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 1399013	NM_001244008.2(KIF1A):c.5214+4C>A	KIF1A	Single nucleotide variant (intron variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1383830	NM_001244008.2(KIF1A):c.5214+4C>T	KIF1A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 1341860	NM_001244008.2(KIF1A):c.5214+3G>A	KIF1A	Single nucleotide variant (intron variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1480109	NM_001244008.2(KIF1A):c.5212A>C (p.Lys1738Gln)	KIF1A (K1637Q +14 more)	Single nucleotide variant (missense variant +1 more)	Neuropathy, hereditary sensory, type 2C +2 more	GUncertain significance
Select item 532890	NM_001244008.2(KIF1A):c.5205T>G (p.Ala1735=)	KIF1A	Single nucleotide variant (synonymous variant +1 more)	Neuropathy, hereditary sensory, type 2C +3 more	GLikely benign
Select item 1713466	NM_001244008.2(KIF1A):c.5198A>G (p.Gln1733Arg)	KIF1A (Q1631R +14 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 2120459	NM_001244008.2(KIF1A):c.5197C>A (p.Gln1733Lys)	KIF1A (Q1666K +14 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 9 +2 more	GUncertain significance
Select item 2932535	NM_001244008.2(KIF1A):c.5195A>C (p.Asp1732Ala)	KIF1A (D1640A +14 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 965112	NM_001244008.2(KIF1A):c.5195A>G (p.Asp1732Gly)	KIF1A (D1648G +14 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 1506252	NM_001244008.2(KIF1A):c.5188A>G (p.Ser1730Gly)	KIF1A (S1628G +14 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 2922509	NM_001244008.2(KIF1A):c.5187C>T (p.Tyr1729=)	KIF1A	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 1665113	NM_001244008.2(KIF1A):c.5184G>A (p.Glu1728=)	KIF1A	Single nucleotide variant (synonymous variant +1 more)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 1473034	NM_001244008.2(KIF1A):c.5178G>C (p.Gln1726His)	KIF1A (Q1659H +14 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 2C +2 more	GLikely benign
Select item 2949794	NM_001244008.2(KIF1A):c.5173G>T (p.Ala1725Ser)	KIF1A (A1632S +14 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 282386	NM_001244008.2(KIF1A):c.5168C>T (p.Ala1723Val)	KIF1A (A1723V +14 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 245691	NM_001244008.2(KIF1A):c.5167G>A (p.Ala1723Thr)	KIF1A (A1622T +14 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 2948832	NM_001244008.2(KIF1A):c.5163C>T (p.Asn1721=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
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 1533181	NM_001244008.2(KIF1A):c.5154C>T (p.Phe1718=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 383824	NM_001244008.2(KIF1A):c.5151G>T (p.Arg1717=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +4 more	GLikely benign
Select item 565581	NM_001244008.2(KIF1A):c.5150G>A (p.Arg1717Gln)	KIF1A (R1717Q +14 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2173639	NM_001244008.2(KIF1A):c.5148G>A (p.Glu1716=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 1445729	NM_001244008.2(KIF1A):c.5143G>A (p.Val1715Met)	KIF1A (V1622M +14 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 2C +3 more	GConflicting classifications of pathogenicity
Select item 1146029	NM_001244008.2(KIF1A):c.5142C>T (p.Thr1714=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 1063161	NM_001244008.2(KIF1A):c.5141C>A (p.Thr1714Asn)	KIF1A (T1612N +14 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 2C +2 more	GLikely benign

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