KIF1A[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
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 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 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 144756	GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	LOC132088828, LOC132088829 +576 more	Copy number gain	See cases	GPathogenic
Select item 161051	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	LOC129935965, LOC129935966 +455 more	Copy number loss	See cases	GPathogenic
Select item 34724	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	ACKR3, AGAP1 +455 more	Copy number loss	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 154186	GRCh38/hg38 2q37.1-37.3(chr2:234159653-241841232)x1	LOC132090688, LOC132090689 +325 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 57457	GRCh38/hg38 2q37.1-37.3(chr2:234345842-242126245)x1	HDAC4, HDAC4-AS1 +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 147967	GRCh38/hg38 2q37.2-37.3(chr2:234835780-242065208)x1	ACKR3, AGAP1 +318 more	Copy number loss	See cases	GPathogenic
Select item 147844	GRCh38/hg38 2q37.2-37.3(chr2:235028429-242066108)x1	ACKR3, AGAP1 +314 more	Copy number loss	See cases	GPathogenic
Select item 59176	GRCh38/hg38 2q37.2-37.3(chr2:235268768-242126245)x3	ACKR3, AGAP1 +311 more	Copy number gain	See cases	GPathogenic
Select item 58882	GRCh38/hg38 2q37.2-37.3(chr2:235268768-242065208)x1	ACKR3, AGAP1 +309 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 147465	GRCh38/hg38 2q37.2-37.3(chr2:235603604-241771051)x1	ACKR3, AGAP1 +288 more	Copy number loss	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 153183	GRCh38/hg38 2q37.2-37.3(chr2:235846916-241841232)x1	ACKR3, AGAP1 +288 more	Copy number loss	See cases	GPathogenic
Select item 151026	GRCh38/hg38 2q37.3(chr2:236413722-242126251)x1	LOC122889015, LOC122889016 +287 more	Copy number loss	See cases	GPathogenic
Select item 57420	GRCh38/hg38 2q37.3(chr2:236555233-242126245)x1	ACKR3, AGXT +276 more	Copy number loss	See cases	GPathogenic
Select item 1684635	Single allele	LOC122889013, LOC122889014 +274 more	Deletion	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 150710	GRCh38/hg38 2q37.3(chr2:236775762-242126251)x1	AGXT, ANKMY1 +274 more	Copy number loss	See cases	GPathogenic
Select item 146261	GRCh38/hg38 2q37.3(chr2:236966763-242065208)x1	AGXT, ANKMY1 +271 more	Copy number loss	See cases	GPathogenic
Select item 146602	GRCh38/hg38 2q37.3(chr2:237034476-242065208)x1	AGXT, ANKMY1 +270 more	Copy number loss	See cases	GPathogenic
Select item 147368	GRCh38/hg38 2q37.3(chr2:237232204-242065208)x1	AGXT, ANKMY1 +264 more	Copy number loss	See cases	GPathogenic
Select item 58885	GRCh38/hg38 2q37.3(chr2:237526184-241996090)x1	LOC129935970, LOC129935971 +251 more	Copy number loss	See cases	GPathogenic
Select item 57432	GRCh38/hg38 2q37.3(chr2:237643996-242126245)x1	COPS9, CROCC2 +250 more	Copy number loss	See cases	GPathogenic
Select item 151032	GRCh38/hg38 2q37.3(chr2:237902870-242126251)x1	AGXT, ANKMY1 +235 more	Copy number loss	See cases	GPathogenic
Select item 144177	GRCh38/hg38 2q37.3(chr2:238756369-241771051)x3	AGXT, ANKMY1 +171 more	Copy number gain	See cases	GPathogenic
Select item 149058	GRCh38/hg38 2q37.3(chr2:238833519-242126245)x1	AGXT, ANKMY1 +185 more	Copy number loss	See cases	GPathogenic
Select item 204217	NC_000002.12:g.(?_239048168)_(240879119_?)del	PRR21, RNPEPL1 +84 more	Deletion	Primary hyperoxaluria, type I	GPathogenic
Select item 153228	GRCh38/hg38 2q37.3(chr2:239507342-241841232)x1	LOC129936021, LOC129936022 +144 more	Copy number loss	See cases	GPathogenic
Select item 155356	GRCh38/hg38 2q37.3(chr2:239642965-241841232)x1	LOC110121227, LOC110599582 +143 more	Copy number loss	See cases	GLikely pathogenic
Select item 147508	GRCh38/hg38 2q37.3(chr2:240067206-242126245)x1	AGXT, ANKMY1 +145 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 146578	GRCh38/hg38 2q37.3(chr2:240171137-242065208)x1	AGXT, ANKMY1 +138 more	Copy number loss	See cases	GPathogenic
Select item 149568	GRCh38/hg38 2q37.3(chr2:240187901-242126245)x1	AGXT, ANKMY1 +140 more	Copy number loss	See cases	GLikely pathogenic
Select item 151964	GRCh38/hg38 2q37.3(chr2:240228628-242126245)x1	AGXT, ANKMY1 +140 more	Copy number loss	See cases	GUncertain significance
Select item 58911	GRCh38/hg38 2q37.3(chr2:240444819-242086301)x1	AGXT, ANKMY1 +131 more	Copy number loss	See cases	GPathogenic
Select item 146232	GRCh38/hg38 2q37.3(chr2:240507151-242065208)x1	AGXT, ANKMY1 +127 more	Copy number loss	See cases	GLikely pathogenic
Select item 152539	GRCh38/hg38 2q37.3(chr2:240671231-242092126)x1	LOC132088835, LOC132088836 +96 more	Copy number loss	See cases	GLikely pathogenic
Select item 144834	GRCh38/hg38 2q37.3(chr2:240687867-240769873)x3	AQP12A, KIF1A +2 more	Copy number gain	See cases	GBenign/Likely benign
Select item 59179	GRCh38/hg38 2q37.3(chr2:240712924-241408725)x3	LOC129936008, LOC129936009 +47 more	Copy number gain	See cases	GPathogenic
Select item 464209	Single allele	KIF1A	Duplication	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 335208	NM_001244008.2(KIF1A):c.*3596C>T	KIF1A	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 30 +1 more	GLikely benign
Select item 898883	NM_001244008.2(KIF1A):c.*3514G>A	KIF1A	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 30	GUncertain significance
Select item 335209	NM_001244008.2(KIF1A):c.*3499C>T	KIF1A	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 30	GUncertain significance
Select item 335210	NM_001244008.2(KIF1A):c.*3494T>C	KIF1A	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 335211	NM_001244008.2(KIF1A):c.*3488G>A	KIF1A	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 30	GUncertain significance
Select item 898884	NM_001244008.2(KIF1A):c.*3483G>A	KIF1A	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 30	GUncertain significance
Select item 335212	NM_001244008.2(KIF1A):c.*3410C>T	KIF1A	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 30	GUncertain significance
Select item 895919	NM_001244008.2(KIF1A):c.*3373G>C	KIF1A	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 30	GUncertain significance
Select item 335213	NM_001244008.2(KIF1A):c.*3345G>A	KIF1A	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 30	GUncertain significance
Select item 335214	NM_001244008.2(KIF1A):c.*3309C>T	KIF1A	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 30	GUncertain significance
Select item 895920	NM_001244008.2(KIF1A):c.*3306G>A	KIF1A	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 30	GUncertain significance
Select item 895921	NM_001244008.2(KIF1A):c.*3300C>T	KIF1A	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 30	GUncertain significance
Select item 895922	NM_001244008.2(KIF1A):c.*3287T>C	KIF1A	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 30	GUncertain significance
Select item 335215	NM_001244008.2(KIF1A):c.*3038T>A	KIF1A	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 30 +1 more	GBenign
Select item 335216	NM_001244008.2(KIF1A):c.*3035G>C	KIF1A	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 30	GUncertain significance
Select item 335217	NM_001244008.2(KIF1A):c.*2954G>A	KIF1A	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 30	GUncertain significance
Select item 896198	NM_001244008.2(KIF1A):c.*2897G>T	KIF1A	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 30	GUncertain significance
Select item 335218	NM_001244008.2(KIF1A):c.*2851G>A	KIF1A	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 30	GUncertain significance
Select item 896199	NM_001244008.2(KIF1A):c.*2840T>A	KIF1A	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 30	GUncertain significance
Select item 896200	NM_001244008.2(KIF1A):c.*2796C>T	KIF1A	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 30	GUncertain significance
Select item 335219	NM_001244008.2(KIF1A):c.*2794C>T	KIF1A	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 335220	NM_001244008.2(KIF1A):c.*2738G>C	KIF1A	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 30	GUncertain significance
Select item 897801	NM_001244008.2(KIF1A):c.*2720C>T	KIF1A	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 30	GUncertain significance
Select item 335221	NM_001244008.2(KIF1A):c.*2632G>A	KIF1A	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 30	GUncertain significance
Select item 335222	NM_001244008.2(KIF1A):c.*2576A>G	KIF1A	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 30 +1 more	GBenign
Select item 335223	NM_001244008.2(KIF1A):c.*2543C>T	KIF1A	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 30 +1 more	GBenign
Select item 335224	NM_001244008.2(KIF1A):c.*2542C>T	KIF1A	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 30	GUncertain significance
Select item 897802	NM_001244008.2(KIF1A):c.*2541G>A	KIF1A	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 30	GUncertain significance
Select item 897803	NM_001244008.2(KIF1A):c.*2505G>C	KIF1A	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 30	GUncertain significance
Select item 335225	NM_001244008.2(KIF1A):c.*2499G>A	KIF1A	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 30	GUncertain significance
Select item 898954	NM_001244008.2(KIF1A):c.*2498C>T	KIF1A	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 30	GUncertain significance
Select item 898955	NM_001244008.2(KIF1A):c.*2490C>A	KIF1A	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 30	GUncertain significance
Select item 335226	NM_001244008.2(KIF1A):c.*2458G>A	KIF1A	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 898956	NM_001244008.2(KIF1A):c.*2403G>A	KIF1A	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 898957	NM_001244008.2(KIF1A):c.*2399C>T	KIF1A	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 30	GUncertain significance
Select item 898958	NM_001244008.2(KIF1A):c.*2362G>A	KIF1A	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 30	GUncertain significance
Select item 898959	NM_001244008.2(KIF1A):c.*2361C>T	KIF1A	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 30	GUncertain significance
Select item 335227	NM_001244008.2(KIF1A):c.*2257C>T	KIF1A	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 30 +1 more	GBenign
Select item 335228	NM_001244008.2(KIF1A):c.*2160T>C	KIF1A	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 30	GUncertain significance
Select item 335229	NM_001244008.2(KIF1A):c.*2133T>C	KIF1A	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 30	GUncertain significance
Select item 894825	NM_001244008.2(KIF1A):c.*1978C>T	KIF1A	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 30	GUncertain significance
Select item 335230	NM_001244008.2(KIF1A):c.*1972del	KIF1A	Deletion (3 prime UTR variant)	Hereditary sensory and autonomic neuropathy type 2 +2 more	GUncertain significance
Select item 894827	NM_001244008.2(KIF1A):c.*1960G>C	KIF1A	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 30	GUncertain significance
Select item 894826	NM_001244008.2(KIF1A):c.*1960G>T	KIF1A	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 30 +1 more	GConflicting classifications of pathogenicity
Select item 335231	NM_001244008.2(KIF1A):c.*1960G>A	KIF1A	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 30	GUncertain significance
Select item 894828	NM_001244008.2(KIF1A):c.*1959G>T	KIF1A	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 30	GUncertain significance
Select item 894829	NM_001244008.2(KIF1A):c.*1951T>C	KIF1A	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 30	GUncertain significance
Select item 335232	NM_001244008.2(KIF1A):c.*1883T>C	KIF1A	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 30 +1 more	GUncertain significance
Select item 335233	NM_001244008.2(KIF1A):c.*1823C>T	KIF1A	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 30 +1 more	GBenign
Select item 335234	NM_001244008.2(KIF1A):c.*1776C>T	KIF1A	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 30	GUncertain significance
Select item 335235	NM_001244008.2(KIF1A):c.*1743G>A	KIF1A	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 30	GBenign

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