"GeneDx"[submitter] AND "KIF1A"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	LOC129935966, LOC129935967 +630 more	Copy number gain	See cases	GPathogenic
Select item 58851	GRCh38/hg38 2q37.1-37.3(chr2:233420162-242086301)x1	ACKR3, AGAP1 +361 more	Copy number loss	See cases	GPathogenic
Select item 58852	GRCh38/hg38 2q37.1-37.3(chr2:233453611-242099155)x1	RAB17-DT, RAMP1 +359 more	Copy number loss	See cases	GPathogenic
Select item 58879	GRCh38/hg38 2q37.1-37.3(chr2:234172536-242086301)x1	LOC126806577, LOC126806578 +334 more	Copy number loss	See cases	GPathogenic
Select item 58880	GRCh38/hg38 2q37.1-37.3(chr2:234668159-242126245)x1	PRLH, PRR21 +325 more	Copy number loss	See cases	GPathogenic
Select item 59177	GRCh38/hg38 2q37.2-37.3(chr2:235563664-242086301)x3	ACKR3, AGAP1 +303 more	Copy number gain	See cases	GPathogenic
Select item 58883	GRCh38/hg38 2q37.2-37.3(chr2:235741079-242032456)x1	ACKR3, AGAP1 +298 more	Copy number loss	See cases	GPathogenic
Select item 58910	GRCh38/hg38 2q37.3(chr2:240067206-242086301)x1	FAM240C, FARP2 +143 more	Copy number loss	See cases	GPathogenic
Select item 58911	GRCh38/hg38 2q37.3(chr2:240444819-242086301)x1	AGXT, ANKMY1 +131 more	Copy number loss	See cases	GPathogenic
Select item 152539	GRCh38/hg38 2q37.3(chr2:240671231-242092126)x1	LOC132088835, LOC132088836 +96 more	Copy number loss	See cases	GLikely pathogenic
Select item 59179	GRCh38/hg38 2q37.3(chr2:240712924-241408725)x3	LOC129936008, LOC129936009 +47 more	Copy number gain	See cases	GPathogenic
Select item 335253	NM_001244008.2(KIF1A):c.*23C>A	KIF1A	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 30 +1 more	GConflicting classifications of pathogenicity
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 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 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 1298033	NM_001244008.2(KIF1A):c.5334-240G>A	KIF1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2430410	NM_001244008.2(KIF1A):c.5333+4G>A	KIF1A	Single nucleotide variant (intron variant)	not provided	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 702819	NM_001244008.2(KIF1A):c.5301C>T (p.Tyr1767=)	KIF1A	Single nucleotide variant (synonymous variant)	not provided +3 more	GLikely benign
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 515573	NM_001244008.2(KIF1A):c.5250C>T (p.Arg1750=)	KIF1A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 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 1707101	NM_001244008.2(KIF1A):c.5221A>G (p.Asn1741Asp)	KIF1A (N1628D +15 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 672501	NM_001244008.2(KIF1A):c.5215-234C>T	KIF1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216419	NM_001244008.2(KIF1A):c.5215-319G>A	KIF1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1175469	NM_001244008.2(KIF1A):c.5214+298C>T	KIF1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1181786	NM_001244008.2(KIF1A):c.5214+85A>G	KIF1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253674	NM_001244008.2(KIF1A):c.5214+82G>A	KIF1A	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 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 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 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 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 3375678	NM_001244008.2(KIF1A):c.5119A>G (p.Met1707Val)	KIF1A (M1605V +14 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369353	NM_001244008.2(KIF1A):c.5105G>T (p.Arg1702Leu)	KIF1A (R1600L +14 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 246594	NM_001244008.2(KIF1A):c.5102G>A (p.Arg1701Gln)	KIF1A (R1600Q +14 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +3 more	GConflicting classifications of pathogenicity
Select item 435626	NM_001244008.2(KIF1A):c.5092G>A (p.Val1698Met)	KIF1A (V1597M +14 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 510033	NM_001244008.2(KIF1A):c.5091C>T (p.Phe1697=)	KIF1A	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
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 1328855	NM_001244008.2(KIF1A):c.5086C>A (p.Arg1696Ser)	KIF1A (R1594S +14 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +3 more	GConflicting classifications of pathogenicity
Select item 435620	NM_001244008.2(KIF1A):c.5070G>A (p.Thr1690=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +6 more	GBenign/Likely benign
Select item 335254	NM_001244008.2(KIF1A):c.5064G>A (p.Pro1688=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +9 more	GConflicting classifications of pathogenicity
Select item 1305326	NM_001244008.2(KIF1A):c.5046C>A (p.Tyr1682Ter)	KIF1A (Y1580* +14 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 211294	NM_001244008.2(KIF1A):c.5043G>A (p.Gly1681=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +6 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 464257	NM_001244008.2(KIF1A):c.5024C>T (p.Pro1675Leu)	KIF1A (P1574L +14 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1217964	NM_001244008.2(KIF1A):c.5022-35C>T	KIF1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214600	NM_001244008.2(KIF1A):c.5022-135G>A	KIF1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 682848	NM_001244008.2(KIF1A):c.5021+176A>G	KIF1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208651	NM_001244008.2(KIF1A):c.5021+28G>A	KIF1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 378055	NM_001244008.2(KIF1A):c.5021+16C>T	KIF1A	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 9 +4 more	GBenign/Likely benign
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 949977	NM_001244008.2(KIF1A):c.4975G>A (p.Glu1659Lys)	KIF1A (E1566K +14 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 377159	NM_001244008.2(KIF1A):c.4971C>A (p.Asp1657Glu)	KIF1A (D1556E +14 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 9 +5 more	GConflicting classifications of pathogenicity
Select item 2054754	NM_001244008.2(KIF1A):c.4967C>G (p.Thr1656Arg)	KIF1A (T1563R +14 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 2C +5 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 1194003	NM_001244008.2(KIF1A):c.4954C>T (p.Arg1652Trp)	KIF1A (R1550W +14 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +4 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 1120330	NM_001244008.2(KIF1A):c.4926C>T (p.Ala1642=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +3 more	GLikely benign
Select item 388533	NM_001244008.2(KIF1A):c.4926C>G (p.Ala1642=)	KIF1A	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 9 +4 more	GLikely benign
Select item 390911	NM_001244008.2(KIF1A):c.4917G>A (p.Leu1639=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +4 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 1305773	NM_001244008.2(KIF1A):c.4889G>T (p.Arg1630Leu)	KIF1A (R1528L +14 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 335256	NM_001244008.2(KIF1A):c.4889G>A (p.Arg1630Gln)	KIF1A (R1630Q +14 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1303766	NM_001244008.2(KIF1A):c.4888C>T (p.Arg1630Trp)	KIF1A (R1528W +14 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 3375692	NM_001244008.2(KIF1A):c.4877A>G (p.Gln1626Arg)	KIF1A (Q1524R +14 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 211291	NM_001244008.2(KIF1A):c.4875G>A (p.Pro1625=)	KIF1A	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 3363587	NM_001244008.2(KIF1A):c.4874C>A (p.Pro1625Gln)	KIF1A (P1523Q +14 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 670495	NM_001244008.2(KIF1A):c.4869-25G>T	KIF1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248535	NM_001244008.2(KIF1A):c.4868+219C>G	KIF1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192076	NM_001244008.2(KIF1A):c.4868+69C>T	KIF1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 515041	NM_001244008.2(KIF1A):c.4854T>A (p.Gly1618=)	KIF1A	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 335257	NM_001244008.2(KIF1A):c.4851C>T (p.Tyr1617=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +5 more	GConflicting classifications of pathogenicity
Select item 948932	NM_001244008.2(KIF1A):c.4846C>T (p.Arg1616Trp)	KIF1A (R1532W +14 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 2C +3 more	GConflicting classifications of pathogenicity
Select item 532904	NM_001244008.2(KIF1A):c.4821C>T (p.Ser1607=)	KIF1A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 2C +4 more	GLikely benign
Select item 656078	NM_001244008.2(KIF1A):c.4820C>T (p.Ser1607Phe)	KIF1A (S1540F +14 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +4 more	GConflicting classifications of pathogenicity
Select item 129395	NM_001244008.2(KIF1A):c.4812C>A (p.Thr1604=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +6 more	GBenign/Likely benign
Select item 936762	NM_001244008.2(KIF1A):c.4811C>T (p.Thr1604Ile)	KIF1A (T1502I +14 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 2C +3 more	GUncertain significance
Select item 3369205	NM_001244008.2(KIF1A):c.4805C>T (p.Thr1602Ile)	KIF1A (T1500I +14 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430523	NM_001244008.2(KIF1A):c.4804A>G (p.Thr1602Ala)	KIF1A (T1500A +14 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 566502	NM_001244008.2(KIF1A):c.4790C>T (p.Pro1597Leu)	KIF1A (P1597L +14 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +3 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 335258	NM_001244008.2(KIF1A):c.4778C>T (p.Pro1593Leu)	KIF1A (P1593L +14 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 377242	NM_001244008.2(KIF1A):c.4771C>T (p.Arg1591Trp)	KIF1A (R1490W +14 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 129398	NM_001244008.2(KIF1A):c.4749C>T (p.Ser1583=)	KIF1A	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 439847	NM_001244008.2(KIF1A):c.4744-4G>A	KIF1A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 30 +3 more	GLikely benign
Select item 335259	NM_001244008.2(KIF1A):c.4744-5C>T	KIF1A	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory, type 2C +4 more	GConflicting classifications of pathogenicity
Select item 1186498	NM_001244008.2(KIF1A):c.4744-80C>T	KIF1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 682847	NM_001244008.2(KIF1A):c.4743+246A>G	KIF1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197976	NM_001244008.2(KIF1A):c.4743+211C>T	KIF1A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225931	NM_001244008.2(KIF1A):c.4743+112T>C	KIF1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260739	NM_001244008.2(KIF1A):c.4743+32C>T	KIF1A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1315565	NM_001244008.2(KIF1A):c.4723G>A (p.Val1575Ile)	KIF1A (V1473I +14 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 246058	NM_001244008.2(KIF1A):c.4708C>T (p.His1570Tyr)	KIF1A (H1469Y +14 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 664751	NM_001244008.2(KIF1A):c.4682C>T (p.Thr1561Met)	KIF1A (T1460M +14 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 9 +3 more	GUncertain significance
Select item 390817	NM_001244008.2(KIF1A):c.4666-5C>T	KIF1A	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 669315	NM_001244008.2(KIF1A):c.4666-17G>A	KIF1A	Single nucleotide variant (intron variant)	not provided +3 more	GLikely benign

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