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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Cerebellar Ataxia (D002524)
Parent Node: Spastic Paraplegia, Hereditary (D015419)
..Starting node ..Ataxia, Spastic, 2, Autosomal Recessive (C566969)
Child Nodes:
Sister Nodes:
..Amyotrophic Dystonic Paraplegia (C566292)
..Arena syndrome (C537428)
..Ataxia, Spastic, 1, Autosomal Dominant (C566993)
..Ataxia, Spastic, 2, Autosomal Recessive (C566969)
..Ataxia, Spastic, 3, Autosomal Recessive (C566956)
..Bahemuka Brown syndrome (C537797)
..Costeff optic atrophy syndrome (C535311) L: 00496;
..Fitzsimmons Walson Mellor syndrome (C537937)
..Fitzsimmons-Guilbert syndrome (C537938)
..Fitzsimmons-McLachlan-Gilbert syndrome (C537058)
..Hereditary spastic paralysis, infantile onset ascending (C537217)
..Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia (C567311)
..Limb Defects, Distal Transverse, with Mental Retardation and Spasticity (C565438)
..MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome (C536029)
..MAST Syndrome (C565409)
..Mental retardation spasticity ectrodactyly (C537446)
..Nakamura Osame syndrome (C538335)
..Roy Maroteaux Kremp syndrome (C535875)
..Spastic diplegia infantile type (C537481)
..Spastic paraplegia 10, autosomal dominant (C537482)
..Spastic paraplegia 11, autosomal recessive (C537483)
..Spastic paraplegia 12, autosomal dominant (C537484)
..Spastic paraplegia 13, autosomal dominant (C537485)
..Spastic paraplegia 14, autosomal recessive (C537486)
..Spastic paraplegia 15, autosomal recessive (C536642)
..Spastic paraplegia 16, X-linked (C536643)
..Spastic paraplegia 17 (C536644)
..Spastic Paraplegia 18, Autosomal Recessive (C567628)
..Spastic paraplegia 19, autosomal dominant (C536856)
..Spastic paraplegia 2, X-linked (C536857)
..Spastic paraplegia 20, autosomal recessive (C536858)
..Spastic paraplegia 23 (C536859)
..Spastic paraplegia 24 (C536860)
..Spastic paraplegia 25, autosomal recessive (C536861)
..Spastic paraplegia 26, autosomal recessive (C536862)
..Spastic Paraplegia 27, Autosomal Recessive (C563807)
..Spastic paraplegia 29, autosomal dominant (C536863)
..Spastic paraplegia 3, autosomal dominant (C536864)
..Spastic Paraplegia 31, Autosomal Dominant (C565210)
..Spastic Paraplegia 32, Autosomal Recessive (C566983)
..Spastic Paraplegia 33, Autosomal Dominant (C565214)
..Spastic Paraplegia 34, X-Linked (C567465)
..SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE (OMIM:612319)
..Spastic Paraplegia 36, Autosomal Dominant (C567930)
..Spastic Paraplegia 37, Autosomal Dominant (C567931)
..Spastic Paraplegia 38, Autosomal Dominant (C567349)
..Spastic Paraplegia 39, Autosomal Recessive (C567433)
..Spastic paraplegia 4, autosomal dominant (C536865)
..SPASTIC PARAPLEGIA 41, AUTOSOMAL DOMINANT (OMIM:613364)
..Spastic Paraplegia 42, Autosomal Dominant (C567262)
..SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE (OMIM:615043)
..Spastic Paraplegia 44, Autosomal Recessive (C567707)
..SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE (OMIM:613162)
..SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE (OMIM:614409)
..SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE (OMIM:614066)
..SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE (OMIM:613647)
..SPASTIC PARAPLEGIA 49, AUTOSOMAL RECESSIVE (OMIM:615031)
..SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE (OMIM:613744)
..SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE (OMIM:614067)
..SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE (OMIM:614898)
..SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE (OMIM:615033)
..SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE (OMIM:615030)
..SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE (OMIM:615658)
..Spastic Paraplegia 5a, Autosomal Recessive (C564811)
..Spastic paraplegia 6, autosomal dominant (C536866)
..SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE (OMIM:615685)
..SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE (OMIM:615681)
..SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE (OMIM:615686)
..SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE (OMIM:615683)
..Spastic Paraplegia 7, Autosomal Recessive (C564599) L: 00497;
..SPASTIC PARAPLEGIA 72, AUTOSOMAL RECESSIVE (OMIM:615625)
..SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT (OMIM:616282)
..SPASTIC PARAPLEGIA 74, AUTOSOMAL RECESSIVE (OMIM:616451)
..SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE (OMIM:616680)
..SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE (OMIM:616907)
..SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE (OMIM:617046)
..SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE (OMIM:617225)
..SPASTIC PARAPLEGIA 79, AUTOSOMAL RECESSIVE (OMIM:615491)
..Spastic paraplegia 9, autosomal dominant (C536868)
..SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE (OMIM:616586)
..Spastic Paraplegia And Evans Syndrome (C566652)
..Spastic paraplegia epilepsy mental retardation (C536869)
..Spastic paraplegia neuropathy poikiloderma (C536870)
..Spastic Paraplegia Type 4 (C580456)
..Spastic paraplegia type 5A, recessive (C536871)
..Spastic paraplegia type 5B, recessive (C536872)
..Spastic Paraplegia Type 7 (C580457)
..Spastic Paraplegia Type 8 (C580458)
..Spastic Paraplegia With Associated Extrapyramidal Signs (C566681)
..Spastic paraplegia with Kallmann syndrome (C536873)
..Spastic Paraplegia With Myoclonic Epilepsy (C564810)
..Spastic paraplegia with precocious puberty (C536874)
..Spastic Paraplegia, Optic Atrophy, And Dementia (C566679)
..Spastic Paraplegia, Optic Atrophy, Microcephaly, And Xy Sex Reversal (C566409)
..Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy (C566682)
..Spastic Paraplegia-50, Autosomal Recessive (C567858)
..Volcke Soekarman syndrome (C537718)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

1039

Name:

Ataxia, Spastic, 2, Autosomal Recessive

Definition:

Alternative IDs:

OMIM:611302

ParentIDs:

MESH:D002524|MESH:D015419

TreeNumbers:

C10.228.140.252.190/C566969 |C10.500.300.820/C566969 |C10.574.500.495.820/C566969 |C10.597.350.090.500/C566969 |C10.668.829.800.300.820/C566969 |C16.131.666.300.820/C566969 |C16.320.400.375.820/C566969 |C23.888.592.350.090.200/C566969

Synonyms:

SPASTIC ATAXIA 2, AUTOSOMAL RECESSIVE |SPAX2

Slim Mappings:

Congenital abnormality|Genetic disease (inborn)|Nervous system disease|Signs and symptoms

Reference:

MedGen: C566969
MeSH: C566969
OMIM: 611302;
MSeqDR :
Genes: KIF1C;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003487	Babinski sign
3	HP:0001272	Cerebellar atrophy	HP:0040283
4	HP:0003693	Distal amyotrophy
5	HP:0001260	Dysarthria NAMDC: Dysarthria
6	HP:0001310	Dysmetria
7	HP:0002380	Fasciculations
8	HP:0002359	Frequent falls
9	HP:0002066	Gait ataxia
10	HP:0002599	Head titubation
11	HP:0000666	Horizontal nystagmus
12	HP:0001347	Hyperreflexia NAMDC: Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
13	HP:0003676	Progressive
14	HP:0002497	Spastic ataxia
15	HP:0001257	Spasticity NAMDC: Spasticity

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NC_000017.11:g.(?_4898726)_(5024161_?)dup	-1	covers 11 genes, none of which curated to show dos	Uncertain significance	-1	RCV001032478\|RCV003117706;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946\|MONDO:MONDO:0011600,MedGen:C4225413,OMIM:605809, Orphanet:590	17	4802021	4927456	-1	-
NM_006612.6(KIF1C):c.10G>T (p.Ala4Ser)	10749	KIF1C	Uncertain significance	-1	RCV002636471;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4903551	4903551	NC_000017.10:g.4903551G>T	-
NM_006612.6(KIF1C):c.14C>T (p.Ser5Leu)	10749	KIF1C	Likely benign	rs747424547	RCV000684908;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4903555	4903555	NC_000017.10:g.4903555C>T	-	C1969796 611302 Ataxia, spastic, 2, autosomal recessive;
NM_006612.6(KIF1C):c.18G>A (p.Val6=)	10749	KIF1C	Conflicting interpretations of pathogenicity	rs148361794	RCV000827041\|RCV001078969\|RCV001848960;	N	MedGen:CN517202\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	17	4903559	4903559	NC_000017.10:g.4903559G>A	ClinGen:CA8318421	C1969796 611302 Ataxia, spastic, 2, autosomal recessive;
NM_006612.6(KIF1C):c.37C>T (p.Arg13Trp)	10749	KIF1C	Uncertain significance	rs756071061	RCV000645365;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4903578	4903578	NC_000017.10:g.4903578C>T	ClinGen:CA8318423	C1969796 611302 Ataxia, spastic, 2, autosomal recessive;
NM_006612.6(KIF1C):c.51C>T (p.Ala17=)	10749	KIF1C	Likely benign	-1	RCV001468001;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4903592	4903592	4903592	-
NM_006612.6(KIF1C):c.53G>A (p.Arg18His)	10749	KIF1C	Uncertain significance	-1	RCV002937993;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4903594	4903594	NC_000017.10:g.4903594G>A	-
NM_006612.6(KIF1C):c.76T>C (p.Cys26Arg)	10749	KIF1C	Likely benign	-1	RCV003082904;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4903617	4903617	NC_000017.10:g.4903617T>C	-
NM_006612.6(KIF1C):c.106+14C>T	10749	KIF1C	Likely benign	-1	RCV002160070;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4903661	4903661	4903661	-
NM_006612.6(KIF1C):c.106+15G>A	10749	KIF1C	Likely benign	-1	RCV002886358;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4903662	4903662	NC_000017.10:g.4903662G>A	-
NM_006612.6(KIF1C):c.107-16C>T	10749	KIF1C	Likely benign	-1	RCV003053250;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4904051	4904051	NC_000017.10:g.4904051C>T	-
NM_006612.6(KIF1C):c.107-7C>T	10749	KIF1C	Likely benign	-1	RCV002937655;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4904060	4904060	NC_000017.10:g.4904060C>T	-
NM_006612.6(KIF1C):c.107-5C>T	10749	KIF1C	Likely benign	-1	RCV002136679;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4904062	4904062	4904062	-
NM_006612.6(KIF1C):c.109A>G (p.Ile37Val)	10749	KIF1C	Uncertain significance	-1	RCV002927248;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4904069	4904069	NC_000017.10:g.4904069A>G	-
NM_006612.6(KIF1C):c.114C>T (p.Ile38=)	10749	KIF1C	Likely benign	-1	RCV001484953;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4904074	4904074	4904074	-
NM_006612.6(KIF1C):c.116A>G (p.Asn39Ser)	10749	KIF1C	Uncertain significance	rs1368090910	RCV000645367;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4904076	4904076	17:g.4904076A>G	ClinGen:CA397342753	C1969796 611302 Ataxia, spastic, 2, autosomal recessive;
NM_006612.6(KIF1C):c.126G>C (p.Gln42His)	10749	KIF1C	Uncertain significance	rs202033753	RCV000803511\|RCV001772075;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946\|MedGen:CN517202	17	4904086	4904086	17:g.4904086G>C	-
NM_006612.6(KIF1C):c.152C>T (p.Thr51Ile)	10749	KIF1C	Uncertain significance	-1	RCV001768695\|RCV002540253\|RCV003120666;	N	MedGen:CN517202\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4904112	4904112	4904112	-
NM_006612.6(KIF1C):c.153C>T (p.Thr51=)	10749	KIF1C	Benign/Likely benign	rs147583562	RCV000437428\|RCV000874000\|RCV001848768;	N	MedGen:CN169374\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	17	4904113	4904113	17:g.4904113C>T	ClinGen:CA8318457	CN169374 not specified;
NM_006612.6(KIF1C):c.162C>T (p.Tyr54_Ser55=)	10749	KIF1C	Likely benign	-1	RCV002676408;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4904122	4904122	NC_000017.10:g.4904122C>T	-
NM_006612.6(KIF1C):c.177C>T (p.His59_Thr60=)	10749	KIF1C	Likely benign	-1	RCV003114859;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4904137	4904137	NC_000017.10:g.4904137C>T	-
NM_006612.6(KIF1C):c.183G>A (p.Ser61=)	10749	KIF1C	Likely pathogenic	rs886041035	RCV000087325\|RCV001847658;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	17	4904143	4904143	NC_000017.10:g.4904143G>A	ClinGen:CA10602383,OMIM:603060.0003	C1969796 611302 Ataxia, spastic, 2, autosomal recessive;
NM_006612.6(KIF1C):c.183+17G>C	10749	KIF1C	Benign/Likely benign	-1	RCV002124832\|RCV002463117;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946\|MedGen:CN517202	17	4904160	4904160	4904160	-
NM_006612.6(KIF1C):c.184-8T>C	10749	KIF1C	Benign/Likely benign	rs192384276	RCV000875529;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4904509	4904509	17:g.4904509T>C	-
NM_006612.6(KIF1C):c.185C>T (p.Thr62Met)	10749	KIF1C	Uncertain significance	-1	RCV002933466;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4904518	4904518	NC_000017.10:g.4904518C>T	-
NM_006612.6(KIF1C):c.223C>T (p.Arg75Trp)	10749	KIF1C	Uncertain significance	rs201085674	RCV000799553;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4904556	4904556	17:g.4904556C>T	-
NM_006612.6(KIF1C):c.231T>C (p.Ile77=)	10749	KIF1C	Benign	rs17707385	RCV000444964\|RCV001515865;	N	MedGen:CN169374\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4904564	4904564	17:g.4904564T>C	ClinGen:CA8318489	CN169374 not specified;
NM_006612.6(KIF1C):c.252C>T (p.His84_Ala85=)	10749	KIF1C	Likely benign	-1	RCV002755721;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4904585	4904585	NC_000017.10:g.4904585C>T	-
NM_006612.6(KIF1C):c.270C>T (p.Asn90=)	10749	KIF1C	Benign	rs535190367	RCV002540017;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4904603	4904603	17:g.4904603C>T	-
NM_006612.6(KIF1C):c.271G>A (p.Val91Met)	10749	KIF1C	Uncertain significance	-1	RCV002667294;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4904604	4904604	NC_000017.10:g.4904604G>A	-
NM_006612.6(KIF1C):c.297C>T (p.Thr99_Gly100=)	10749	KIF1C	Benign	-1	RCV002599412;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4904630	4904630	NC_000017.10:g.4904630C>T	-
NM_006612.6(KIF1C):c.311C>T (p.Ser104Phe)	10749	KIF1C	Uncertain significance	-1	RCV001965030;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4904644	4904644	4904644	-
NM_006612.6(KIF1C):c.328C>T (p.Arg110Ter)	10749	KIF1C	Pathogenic	-1	RCV003104636;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4904661	4904661	NC_000017.10:g.4904661C>T	-
NM_006612.6(KIF1C):c.334G>A (p.Glu112Lys)	10749	KIF1C	Uncertain significance	-1	RCV002681293;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4904667	4904667	NC_000017.10:g.4904667G>A	-
NM_006612.6(KIF1C):c.339A>G (p.Pro113=)	10749	KIF1C	Conflicting interpretations of pathogenicity	rs142773987	RCV000645369\|RCV001849025;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	17	4904672	4904672	NC_000017.10:g.4904672A>G	ClinGen:CA8318508	C1969796 611302 Ataxia, spastic, 2, autosomal recessive;
NM_006612.6(KIF1C):c.352A>C (p.Ile118Leu)	10749	KIF1C	Uncertain significance	rs757847238	RCV000821734;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4904685	4904685	17:g.4904685A>C	-
NM_006612.6(KIF1C):c.355G>A (p.Val119Met)	10749	KIF1C	Uncertain significance	-1	RCV002910004\|RCV002947204;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946\|MeSH:D030342,MedGen:C0950123	17	4904688	4904688	NC_000017.10:g.4904688G>A	-
NM_006612.6(KIF1C):c.363+4C>T	10749	KIF1C	Uncertain significance	rs368371260	RCV001317228;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4904700	4904700	4904700	-
NM_006612.6(KIF1C):c.363+5G>A	10749	KIF1C	Uncertain significance	rs371500484	RCV000820963\|RCV001849124;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	17	4904701	4904701	17:g.4904701G>A	-
NM_006612.6(KIF1C):c.364-18C>T	10749	KIF1C	Likely benign	-1	RCV002691053;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4905336	4905336	NC_000017.10:g.4905336C>T	-
NM_006612.6(KIF1C):c.385C>T (p.Arg129Cys)	10749	KIF1C	Uncertain significance	rs745851014	RCV001056498;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4905375	4905375	17:g.4905375C>T	-
NM_006612.6(KIF1C):c.387C>A (p.Arg129=)	10749	KIF1C	Likely benign	rs138692366	RCV000953887\|RCV001465331;	N	MedGen:CN517202\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4905377	4905377	17:g.4905377C>A	-
NM_006612.6(KIF1C):c.412C>G (p.Leu138Val)	10749	KIF1C	Uncertain significance	-1	RCV001848513\|RCV002034764;	N	MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4905402	4905402	4905402	-
NM_006612.6(KIF1C):c.416C>G (p.Ser139Cys)	10749	KIF1C	Uncertain significance	-1	RCV002736555\|RCV002750702;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946\|MeSH:D030342,MedGen:C0950123	17	4905406	4905406	NC_000017.10:g.4905406C>G	-
NM_006612.6(KIF1C):c.430-6A>T	10749	KIF1C	Likely benign	rs749747498	RCV000931606;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4905753	4905753	17:g.4905753A>T	-
NM_006612.6(KIF1C):c.445A>T (p.Ile149Phe)	10749	KIF1C	Pathogenic	-1	RCV001391533;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4905774	4905774	4905774	-
NM_006612.6(KIF1C):c.447C>T (p.Ile149=)	10749	KIF1C	Conflicting interpretations of pathogenicity	rs767820925	RCV000996457\|RCV002549938;	N	MedGen:CN517202\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4905776	4905776	17:g.4905776C>T	-
NM_006612.6(KIF1C):c.463C>G (p.Arg155Gly)	10749	KIF1C	Uncertain significance	-1	RCV001934859;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4905792	4905792	4905792	-
NM_006612.6(KIF1C):c.468C>T (p.Asp156_Leu157=)	10749	KIF1C	Likely benign	-1	RCV002943929;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4905797	4905797	NC_000017.10:g.4905797C>T	-
NM_006612.6(KIF1C):c.471C>A (p.Leu157=)	10749	KIF1C	Likely benign	-1	RCV001458402;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4905800	4905800	4905800	-
NM_006612.6(KIF1C):c.486T>C (p.Ser162_Arg163=)	10749	KIF1C	Likely benign	-1	RCV002914895;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4905815	4905815	NC_000017.10:g.4905815T>C	-
NM_006612.6(KIF1C):c.487C>T (p.Arg163Trp)	10749	KIF1C	Uncertain significance	-1	RCV002621821;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4905816	4905816	NC_000017.10:g.4905816C>T	-
NM_006612.6(KIF1C):c.499C>T (p.Arg167Trp)	10749	KIF1C	Conflicting interpretations of pathogenicity	rs185479618	RCV000540072;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4905828	4905828	NC_000017.10:g.4905828C>T	ClinGen:CA8318586	C1969796 611302 Ataxia, spastic, 2, autosomal recessive;
NM_006612.6(KIF1C):c.500G>A (p.Arg167Gln)	10749	KIF1C	Conflicting interpretations of pathogenicity	rs199962814	RCV000799939\|RCV002267025;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946\|MedGen:CN517202	17	4905829	4905829	17:g.4905829G>A	-
NM_006612.6(KIF1C):c.505C>T (p.Arg169Trp)	10749	KIF1C	Pathogenic	rs587777198	RCV000087324;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4905834	4905834	17:g.4905834C>T	ClinGen:CA150725,UniProtKB:O43896#VAR_070937,OMIM:603060.0002	C1969796 611302 Ataxia, spastic, 2, autosomal recessive;
NM_006612.6(KIF1C):c.527C>T (p.Pro176Leu)	10749	KIF1C	Pathogenic/Likely pathogenic	rs772475828	RCV001093146\|RCV001219292;	N	MedGen:CN517202\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4905856	4905856	17:g.4905856C>T	-
NM_006612.6(KIF1C):c.528G>A (p.Pro176=)	10749	KIF1C	Likely benign	rs775719793	RCV002539264;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4905857	4905857	17:g.4905857G>A	-
NM_006612.6(KIF1C):c.531C>T (p.Tyr177=)	10749	KIF1C	Likely benign	-1	RCV001482352;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4905860	4905860	4905860	-
NM_006612.6(KIF1C):c.534G>T (p.Val178_Gln179=)	10749	KIF1C	Likely benign	-1	RCV002613492;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4905863	4905863	NC_000017.10:g.4905863G>T	-
NM_006612.6(KIF1C):c.548A>C (p.Lys183Thr)	10749	KIF1C	Uncertain significance	-1	RCV001953284;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4905877	4905877	4905877	-
NM_006612.6(KIF1C):c.561C>T (p.Thr187_Ser188=)	10749	KIF1C	Likely benign	-1	RCV003018672;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4905890	4905890	NC_000017.10:g.4905890C>T	-
NM_006612.6(KIF1C):c.564C>T (p.Ser188_Tyr189=)	10749	KIF1C	Likely benign	-1	RCV003059603;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4905893	4905893	NC_000017.10:g.4905893C>T	-
NM_006612.6(KIF1C):c.567C>T (p.Tyr189_Ala190=)	10749	KIF1C	Likely benign	-1	RCV002919013;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4905896	4905896	NC_000017.10:g.4905896C>T	-
NM_006612.6(KIF1C):c.568G>A (p.Ala190Thr)	10749	KIF1C	Uncertain significance	rs752855724	RCV001330255\|RCV002546376;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946\|MeSH:D030342,MedGen:C0950123	17	4905897	4905897	4905897	-
NM_006612.6(KIF1C):c.577G>A (p.Ala193Thr)	10749	KIF1C	Uncertain significance	rs754938138	RCV000822526;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4905906	4905906	17:g.4905906G>A	-
NM_006612.6(KIF1C):c.588G>T (p.Met196Ile)	10749	KIF1C	Uncertain significance	-1	RCV002617062;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4905917	4905917	NC_000017.10:g.4905917G>T	-
NM_006612.6(KIF1C):c.601_604del (p.Lys201fs)	10749	KIF1C	Pathogenic	-1	RCV001918167;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4905930	4905933	4905929	-
NM_006612.6(KIF1C):c.608+2_608+3dup	10749	KIF1C	Uncertain significance	rs1597841997	RCV000793765;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4905937	4905938	17:g.4905937_4905938insGT	-
NM_006612.6(KIF1C):c.608G>A (p.Arg203Gln)	10749	KIF1C	Uncertain significance	-1	RCV002619304;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4905937	4905937	NC_000017.10:g.4905937G>A	-
NM_006612.6(KIF1C):c.608+6G>A	10749	KIF1C	Uncertain significance	-1	RCV001898049;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4905943	4905943	4905943	-
NM_006612.6(KIF1C):c.609-9T>C	10749	KIF1C	Likely benign	-1	RCV003047374;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4906017	4906017	NC_000017.10:g.4906017T>C	-
NM_006612.6(KIF1C):c.646C>T (p.Arg216Cys)	10749	KIF1C	Likely pathogenic	rs1064796693	RCV000485547\|RCV000985162;	N	MedGen:CN517202\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4906063	4906063	17:g.4906063C>T	ClinGen:CA16620467	CN517202 not provided;
NM_006612.6(KIF1C):c.657C>A (p.Ala219=)	10749	KIF1C	Likely benign	-1	RCV001372613;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4906074	4906074	4906074	-
NM_006612.6(KIF1C):c.657C>T (p.Ala219_Val220=)	10749	KIF1C	Likely benign	-1	RCV002903910;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4906074	4906074	NC_000017.10:g.4906074C>T	-
NM_006612.6(KIF1C):c.682C>T (p.Arg228Cys)	10749	KIF1C	Likely benign	rs141189136	RCV000687046\|RCV001252794;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946\|Human Phenotype Ontology:HP:0000252,Human Phenotype Ontology:HP:0001366,Human Phenotype Ontology:HP:0005485,Human Phenotype Ontology:HP:0005489,Human Phenotype Ontology:HP:0005497,MONDO:MON	17	4906099	4906099	NC_000017.10:g.4906099C>T	-	C1969796 611302 Ataxia, spastic, 2, autosomal recessive;
NM_006612.6(KIF1C):c.683G>A (p.Arg228His)	10749	KIF1C	Likely benign	-1	RCV002590507;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4906100	4906100	NC_000017.10:g.4906100G>A	-
NM_006612.6(KIF1C):c.687C>T (p.Cys229=)	10749	KIF1C	Likely benign	rs752006841	RCV002540000;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4906104	4906104	17:g.4906104C>T	-
NM_006612.6(KIF1C):c.697C>T (p.Leu233Phe)	10749	KIF1C	Uncertain significance	rs1361059674	RCV001004868;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4906114	4906114	17:g.4906114C>T	-
NM_006612.6(KIF1C):c.701C>T (p.Thr234Met)	10749	KIF1C	Uncertain significance	rs201655443	RCV001330256\|RCV002546377;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946\|MeSH:D030342,MedGen:C0950123	17	4906118	4906118	4906118	-
NM_006612.6(KIF1C):c.702G>A (p.Thr234_Gly235=)	10749	KIF1C	Likely benign	-1	RCV002653046;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4906119	4906119	NC_000017.10:g.4906119G>A	-
NM_006612.6(KIF1C):c.713C>T (p.Ser238Leu)	10749	KIF1C	Uncertain significance	-1	RCV002914155;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4906130	4906130	NC_000017.10:g.4906130C>T	-
NM_006612.6(KIF1C):c.714G>A (p.Ser238=)	10749	KIF1C	Conflicting interpretations of pathogenicity	rs368886383	RCV001093147\|RCV001312503\|RCV001847154;	N	MedGen:CN517202\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	17	4906131	4906131	17:g.4906131G>A	-
NM_006612.6(KIF1C):c.720+20dup	10749	KIF1C	Benign/Likely benign	rs10533622	RCV000554812\|RCV001534000\|RCV001848962;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946\|MedGen:CN517202\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	17	4906146	4906147	NC_000017.10:g.4906157dup	ClinGen:CA8318655	C1969796 611302 Ataxia, spastic, 2, autosomal recessive;
NM_006612.6(KIF1C):c.720+19_720+20del	10749	KIF1C	Benign	rs10533622	RCV001518480\|RCV001692222;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946\|MedGen:CN517202	17	4906147	4906148	NC_000017.10:g.4906156_4906157del	ClinGen:CA8318653	CN169374 not specified;
NM_006612.6(KIF1C):c.720+20del	10749	KIF1C	Benign/Likely benign	-1	RCV001515942\|RCV001533870\|RCV001847291;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946\|MedGen:CN517202\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	17	4906147	4906147	4906146	-
NM_006612.6(KIF1C):c.720+18_720+20del	10749	KIF1C	Benign/Likely benign	-1	RCV001848516\|RCV002074415;	N	MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4906147	4906149	4906146	-
NM_006612.6(KIF1C):c.720+11C>T	10749	KIF1C	Likely benign	-1	RCV002210238;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4906148	4906148	4906148	-
NM_006612.6(KIF1C):c.720+12C>G	10749	KIF1C	Likely benign	-1	RCV002578860;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4906149	4906149	NC_000017.10:g.4906149C>G	-
NM_006612.6(KIF1C):c.720+14C>A	10749	KIF1C	Likely benign	-1	RCV002667998;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4906151	4906151	NC_000017.10:g.4906151C>A	-
NM_006612.6(KIF1C):c.720+16C>G	10749	KIF1C	Likely benign	-1	RCV002576830;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4906153	4906153	NC_000017.10:g.4906153C>G	-
NM_006612.6(KIF1C):c.720+16C>A	10749	KIF1C	Likely benign	-1	RCV002805468;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4906153	4906153	NC_000017.10:g.4906153C>A	-
NM_006612.6(KIF1C):c.720+17C>G	10749	KIF1C	Likely benign	rs753249003	RCV000437424\|RCV002521680;	N	MedGen:CN169374\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4906154	4906154	17:g.4906154C>G	ClinGen:CA16607739	CN169374 not specified;
NM_006612.6(KIF1C):c.720+18C>A	10749	KIF1C	Benign/Likely benign	rs201947256	RCV000839266\|RCV002068556;	N	MedGen:CN517202\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4906155	4906155	17:g.4906155C>A	-
NM_006612.6(KIF1C):c.720+18C>G	10749	KIF1C	Likely benign	-1	RCV002895764;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4906155	4906155	NC_000017.10:g.4906155C>G	-
NM_006612.6(KIF1C):c.720+19C>G	10749	KIF1C	Benign/Likely benign	-1	RCV001570171\|RCV002072203;	N	MedGen:CN517202\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4906156	4906156	4906156	-
NM_006612.6(KIF1C):c.720+20C>G	10749	KIF1C	Likely benign	rs201019441	RCV000605041\|RCV002064200;	N	MedGen:CN169374\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4906157	4906157	17:g.4906157C>G	ClinGen:CA8318681	CN169374 not specified;
NM_006612.6(KIF1C):c.720+20C>A	10749	KIF1C	Likely benign	-1	RCV002871811;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4906157	4906157	NC_000017.10:g.4906157C>A	-
NM_006612.6(KIF1C):c.721-18T>C	10749	KIF1C	Likely benign	-1	RCV002638969;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4906889	4906889	NC_000017.10:g.4906889T>C	-
NM_006612.6(KIF1C):c.721-14dup	10749	KIF1C	Likely benign	-1	RCV002801363;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4906890	4906891	NC_000017.10:g.4906893dup	-
NM_006612.6(KIF1C):c.721-4C>T	10749	KIF1C	Likely benign	-1	RCV003087798;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4906903	4906903	NC_000017.10:g.4906903C>T	-
NM_006612.6(KIF1C):c.726_727insCC (p.Lys243fs)	10749	KIF1C	Pathogenic	-1	RCV001389057;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4906912	4906913	4906912	-
NM_006612.6(KIF1C):c.732C>G (p.Ile244Met)	10749	KIF1C	Likely benign	rs139697370	RCV000871383;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4906918	4906918	17:g.4906918C>G	-
NM_006612.6(KIF1C):c.743A>G (p.Asp248Gly)	10749	KIF1C	Uncertain significance	-1	RCV002833214;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4906929	4906929	NC_000017.10:g.4906929A>G	-
NM_006612.6(KIF1C):c.765del (p.Asp256fs)	10749	KIF1C	Pathogenic	-1	RCV001647140;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4906950	4906950	4906949	-
NM_006612.6(KIF1C):c.764C>A (p.Ala255Asp)	10749	KIF1C	Uncertain significance	-1	RCV002833750;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4906950	4906950	NC_000017.10:g.4906950C>A	-
NM_006612.6(KIF1C):c.765C>T (p.Ala255=)	10749	KIF1C	Likely benign	rs755969023	RCV000879474;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4906951	4906951	17:g.4906951C>T	-
NM_006612.6(KIF1C):c.766G>A (p.Asp256Asn)	10749	KIF1C	Conflicting interpretations of pathogenicity	-1	RCV001864750\|RCV002545883;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946\|MeSH:D030342,MedGen:C0950123	17	4906952	4906952	4906952	-
NM_006612.6(KIF1C):c.768C>T (p.Asp256_Ser257=)	10749	KIF1C	Benign	-1	RCV002805969;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4906954	4906954	NC_000017.10:g.4906954C>T	-
NM_006612.6(KIF1C):c.798+3G>T	10749	KIF1C	Uncertain significance	rs777181739	RCV000791787;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4906987	4906987	17:g.4906987G>T	-
NM_006612.6(KIF1C):c.798+5G>A	10749	KIF1C	Uncertain significance	rs1974659801	RCV001036945;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4906989	4906989	17:g.4906989G>A	-
NM_006612.6(KIF1C):c.799-19A>G	10749	KIF1C	Likely benign	rs370317680	RCV000605311\|RCV002528556;	N	MedGen:CN169374\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4907127	4907127	17:g.4907127A>G	ClinGen:CA8318747	CN169374 not specified;
NM_006612.6(KIF1C):c.799-19A>T	10749	KIF1C	Likely benign	-1	RCV002134156;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4907127	4907127	4907127	-
NM_006612.6(KIF1C):c.803G>C (p.Gly268Ala)	10749	KIF1C	Uncertain significance	-1	RCV002295406;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4907150	4907150	4907150	-
NM_006612.6(KIF1C):c.822C>G (p.Ser274=)	10749	KIF1C	Likely benign	-1	RCV002152579;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4907169	4907169	4907169	-
NM_006612.6(KIF1C):c.840A>G (p.Lys280_Val281=)	10749	KIF1C	Likely benign	-1	RCV002795468;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4907187	4907187	NC_000017.10:g.4907187A>G	-
NM_006612.6(KIF1C):c.843G>T (p.Val281_Ile282=)	10749	KIF1C	Likely benign	-1	RCV002650214;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4907190	4907190	NC_000017.10:g.4907190G>T	-
NM_006612.6(KIF1C):c.849G>A (p.Ser283=)	10749	KIF1C	Likely benign	-1	RCV002215349;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4907196	4907196	4907196	-
NM_006612.6(KIF1C):c.850G>A (p.Ala284Thr)	10749	KIF1C	Uncertain significance	-1	RCV002914158;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4907197	4907197	NC_000017.10:g.4907197G>A	-
NM_006612.6(KIF1C):c.852C>T (p.Ala284_Leu285=)	10749	KIF1C	Likely benign	-1	RCV003063517;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4907199	4907199	NC_000017.10:g.4907199C>T	-
NM_006612.6(KIF1C):c.864+17G>A	10749	KIF1C	Likely benign	-1	RCV002819139;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4907228	4907228	NC_000017.10:g.4907228G>A	-
NM_006612.6(KIF1C):c.866A>C (p.Gln289Pro)	10749	KIF1C	Conflicting interpretations of pathogenicity	rs146872023	RCV000488299\|RCV001085446\|RCV001848856;	N	MedGen:CN517202\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	17	4907294	4907294	17:g.4907294A>C	ClinGen:CA8318771	C1969796 611302 Ataxia, spastic, 2, autosomal recessive;
NM_006612.6(KIF1C):c.884C>T (p.Ser295Leu)	10749	KIF1C	Conflicting interpretations of pathogenicity	rs145650252	RCV000871153\|RCV001446098\|RCV001847085\|RCV002539099;	N	MedGen:CN517202\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|MeSH:D030342,MedGen:C0950123	17	4907312	4907312	17:g.4907312C>T	-
NM_006612.6(KIF1C):c.885G>A (p.Ser295=)	10749	KIF1C	Benign/Likely benign	rs148489739	RCV000875693\|RCV001547113\|RCV001847101;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946\|MedGen:CN517202\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	17	4907313	4907313	17:g.4907313G>A	-
NM_006612.6(KIF1C):c.899A>T (p.Tyr300Phe)	10749	KIF1C	Uncertain significance	rs760721111	RCV000824133;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4907327	4907327	17:g.4907327A>T	-
NM_006612.6(KIF1C):c.912G>A (p.Val304_Leu305=)	10749	KIF1C	Likely benign	-1	RCV002927983;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4907340	4907340	NC_000017.10:g.4907340G>A	-
NM_006612.6(KIF1C):c.940+7G>A	10749	KIF1C	Likely benign	-1	RCV002685592;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4907375	4907375	NC_000017.10:g.4907375G>A	-
NM_006612.6(KIF1C):c.940+17C>A	10749	KIF1C	Benign	-1	RCV002163533;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4907385	4907385	4907385	-
NC_000017.10:g.(4907452_4914761)_(4918508_4926045)del	10749	KIF1C	Pathogenic	-1	RCV000087326;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4907452	4926045		OMIM:603060.0004	C1969796 611302 Ataxia, spastic, 2, autosomal recessive;
NM_006612.6(KIF1C):c.941-17A>T	10749	KIF1C	Benign/Likely benign	rs202231042	RCV000419820\|RCV002062673;	N	MedGen:CN169374\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4907845	4907845	NC_000017.10:g.4907845A>T	ClinGen:CA8318810	CN169374 not specified;
NM_006612.6(KIF1C):c.953G>A (p.Arg318His)	10749	KIF1C	Uncertain significance	-1	RCV002953092\|RCV002953091;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4907874	4907874	NC_000017.10:g.4907874G>A	-
NM_006612.6(KIF1C):c.990C>T (p.Ile330_Asn331=)	10749	KIF1C	Benign	-1	RCV003056758;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4907911	4907911	NC_000017.10:g.4907911C>T	-
NM_006612.6(KIF1C):c.992A>G (p.Asn331Ser)	10749	KIF1C	Uncertain significance	-1	RCV002917194;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4907913	4907913	NC_000017.10:g.4907913A>G	-
NM_006612.6(KIF1C):c.996C>T (p.Tyr332=)	10749	KIF1C	Conflicting interpretations of pathogenicity	rs143283587	RCV000601473\|RCV000915985\|RCV001452482;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4907917	4907917	17:g.4907917C>T	ClinGen:CA8318825	CN169374 not specified;
NM_006612.6(KIF1C):c.1005T>G (p.Thr335=)	10749	KIF1C	Likely benign	-1	RCV001499965;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4907926	4907926	4907926	-
NM_006612.6(KIF1C):c.1009A>G (p.Ser337Gly)	10749	KIF1C	Uncertain significance	-1	RCV002701090;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4907930	4907930	NC_000017.10:g.4907930A>G	-
NM_006612.6(KIF1C):c.1019+1dup	10749	KIF1C	Pathogenic	-1	RCV001391534;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4907939	4907940	4907939	-
NM_006612.6(KIF1C):c.1019+5G>A	10749	KIF1C	Uncertain significance	-1	RCV002791067;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4907945	4907945	NC_000017.10:g.4907945G>A	-
NM_006612.6(KIF1C):c.1019+18A>G	10749	KIF1C	Benign	rs72838331	RCV000425943\|RCV002064961;	N	MedGen:CN169374\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4907958	4907958	17:g.4907958A>G	ClinGen:CA8318832	CN169374 not specified;
NM_006612.6(KIF1C):c.1020-17G>C	10749	KIF1C	Likely benign	-1	RCV002146927;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4908133	4908133	4908133	-
NM_006612.6(KIF1C):c.1020-16C>T	10749	KIF1C	Likely benign	-1	RCV002838154;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4908134	4908134	NC_000017.10:g.4908134C>T	-
NM_006612.6(KIF1C):c.1020-14C>G	10749	KIF1C	Likely benign	rs201164122	RCV000444432\|RCV002062659;	N	MedGen:CN169374\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4908136	4908136	17:g.4908136C>G	ClinGen:CA8318846	CN169374 not specified;
NM_006612.6(KIF1C):c.1020-4C>T	10749	KIF1C	Likely benign	-1	RCV002647204;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4908146	4908146	NC_000017.10:g.4908146C>T	-
NM_006612.6(KIF1C):c.1023T>C (p.Tyr341=)	10749	KIF1C	Conflicting interpretations of pathogenicity	-1	RCV001848492\|RCV002543404;	N	MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4908153	4908153	4908153	-
NM_006612.6(KIF1C):c.1029C>T (p.Asp343_Arg344=)	10749	KIF1C	Likely benign	-1	RCV002620293;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4908159	4908159	NC_000017.10:g.4908159C>T	-
NM_006612.6(KIF1C):c.1038G>A (p.Lys346=)	10749	KIF1C	Likely benign	rs753267733	RCV001090631\|RCV002069600;	N	MedGen:CN517202\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4908168	4908168	17:g.4908168G>A	-
NM_006612.6(KIF1C):c.1045C>T (p.Arg349Cys)	10749	KIF1C	Conflicting interpretations of pathogenicity	-1	RCV001757834\|RCV002538750;	N	MedGen:CN517202\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4908175	4908175	4908175	-
NM_006612.6(KIF1C):c.1062C>G (p.Ile354Met)	10749	KIF1C	Uncertain significance	-1	RCV002658590;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4908192	4908192	NC_000017.10:g.4908192C>G	-
NM_006612.6(KIF1C):c.1065C>T (p.Asn355=)	10749	KIF1C	Likely benign	rs576640333	RCV000874657;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4908195	4908195	17:g.4908195C>T	-
NM_006612.6(KIF1C):c.1104G>A (p.Glu368=)	10749	KIF1C	Likely benign	rs1373839678	RCV000938168\|RCV001490580;	N	MedGen:CN517202\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4908234	4908234	17:g.4908234G>A	-
NM_006612.6(KIF1C):c.1111G>A (p.Ala371Thr)	10749	KIF1C	Conflicting interpretations of pathogenicity	rs142056835	RCV000487792\|RCV000516075\|RCV000497507\|RCV001079974;	N	MedGen:CN517202\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|MedGen:CN169374\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4908241	4908241	17:g.4908241G>A	ClinGen:CA8318865	C1969796 611302 Ataxia, spastic, 2, autosomal recessive;
NM_006612.6(KIF1C):c.1115G>A (p.Arg372Gln)	10749	KIF1C	Uncertain significance	rs367997542	RCV000811319;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4908245	4908245	17:g.4908245G>A	-
NM_006612.6(KIF1C):c.1131G>C (p.Leu377_Met378=)	10749	KIF1C	Likely benign	-1	RCV002741374;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4908261	4908261	NC_000017.10:g.4908261G>C	-
NM_006612.6(KIF1C):c.1134G>A (p.Met378Ile)	10749	KIF1C	Uncertain significance	-1	RCV002705619;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4908264	4908264	NC_000017.10:g.4908264G>A	-
NM_006612.6(KIF1C):c.1136C>G (p.Ala379Gly)	10749	KIF1C	Conflicting interpretations of pathogenicity	rs79290524	RCV000553957\|RCV001848958\|RCV002292564;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|MedGen:CN517202	17	4908266	4908266	17:g.4908266C>G	ClinGen:CA8318875	C1969796 611302 Ataxia, spastic, 2, autosomal recessive;
NM_006612.6(KIF1C):c.1140G>C (p.Gln380His)	10749	KIF1C	Uncertain significance	-1	RCV003022787;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4908270	4908270	NC_000017.10:g.4908270G>C	-
NM_006612.6(KIF1C):c.1152C>G (p.Ala384=)	10749	KIF1C	Likely benign	-1	RCV001462568;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4908282	4908282	4908282	-
NM_006612.6(KIF1C):c.1165+3C>T	10749	KIF1C	Uncertain significance	rs199890307	RCV001048721\|RCV001726425;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946\|MedGen:CN517202	17	4908298	4908298	17:g.4908298C>T	-
NM_006612.6(KIF1C):c.1165+4G>A	10749	KIF1C	Conflicting interpretations of pathogenicity	rs192489748	RCV000514056\|RCV001080394\|RCV001848880;	N	MedGen:CN517202\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	17	4908299	4908299	17:g.4908299G>A	ClinGen:CA8318879	C1969796 611302 Ataxia, spastic, 2, autosomal recessive;
NM_006612.6(KIF1C):c.1165+12A>G	10749	KIF1C	Benign	-1	RCV002589139;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4908307	4908307	NC_000017.10:g.4908307A>G	-
NM_006612.6(KIF1C):c.1165+16A>T	10749	KIF1C	Uncertain significance	-1	RCV001989805;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4908311	4908311	4908311	-
NM_006612.6(KIF1C):c.1165+17G>C	10749	KIF1C	Likely benign	-1	RCV002913665;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4908312	4908312	NC_000017.10:g.4908312G>C	-
NM_006612.6(KIF1C):c.1166-19T>C	10749	KIF1C	Likely benign	-1	RCV002623899;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4910191	4910191	NC_000017.10:g.4910191T>C	-
NM_006612.6(KIF1C):c.1166-8C>T	10749	KIF1C	Benign	rs114935927	RCV000542410\|RCV000601424\|RCV001848959;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946\|MedGen:CN169374\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	17	4910202	4910202	NC_000017.10:g.4910202C>T	ClinGen:CA8318895	C1969796 611302 Ataxia, spastic, 2, autosomal recessive;
NM_006612.6(KIF1C):c.1176G>A (p.Thr392_Glu393=)	10749	KIF1C	Likely benign	-1	RCV002995145;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4910220	4910220	NC_000017.10:g.4910220G>A	-
NM_006612.6(KIF1C):c.1179A>G (p.Glu393_Glu394=)	10749	KIF1C	Benign	-1	RCV002857204;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4910223	4910223	NC_000017.10:g.4910223A>G	-
NM_006612.6(KIF1C):c.1189G>A (p.Val397Ile)	10749	KIF1C	Uncertain significance	-1	RCV002797024;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4910233	4910233	NC_000017.10:g.4910233G>A	-
NM_006612.6(KIF1C):c.1197C>T (p.Gly399=)	10749	KIF1C	Benign	-1	RCV001879020;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4910241	4910241	4910241	-
NM_006612.6(KIF1C):c.1198G>A (p.Ala400Thr)	10749	KIF1C	Conflicting interpretations of pathogenicity	-1	RCV001848493\|RCV002543406\|RCV002543405;	N	MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946\|MeSH:D030342,MedGen:C0950123	17	4910242	4910242	4910242	-
NM_006612.6(KIF1C):c.1200C>T (p.Ala400_Leu401=)	10749	KIF1C	Likely benign	-1	RCV002890512;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4910244	4910244	NC_000017.10:g.4910244C>T	-
NM_006612.6(KIF1C):c.1223C>A (p.Pro408Gln)	10749	KIF1C	Uncertain significance	-1	RCV002634600;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4910267	4910267	NC_000017.10:g.4910267C>A	-
NM_006612.6(KIF1C):c.1239C>G (p.Pro413=)	10749	KIF1C	Likely benign	-1	RCV002152066;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4910283	4910283	4910283	-
NM_006612.6(KIF1C):c.1261G>C (p.Gly421Arg)	10749	KIF1C	Uncertain significance	rs1259655283	RCV001295488;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4910305	4910305	4910305	-
NM_006612.6(KIF1C):c.1275G>A (p.Pro425_Ser426=)	10749	KIF1C	Benign	-1	RCV002775804;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4910319	4910319	NC_000017.10:g.4910319G>A	-
NM_006612.6(KIF1C):c.1277C>T (p.Ser426Leu)	10749	KIF1C	Uncertain significance	-1	RCV001973595;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4910321	4910321	4910321	-
NM_006612.6(KIF1C):c.1284C>A (p.Ser428=)	10749	KIF1C	Likely benign	rs758493561	RCV002540023;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4910328	4910328	17:g.4910328C>A	-
NM_006612.6(KIF1C):c.1292C>T (p.Thr431Met)	10749	KIF1C	Conflicting interpretations of pathogenicity	-1	RCV001848494\|RCV002034763;	N	MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4910336	4910336	4910336	-
NM_006612.6(KIF1C):c.1293G>A (p.Thr431=)	10749	KIF1C	Benign	rs35919356	RCV000434106\|RCV000552625\|RCV001848753;	N	MedGen:CN169374\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	17	4910337	4910337	17:g.4910337G>A	ClinGen:CA8318923	C1969796 611302 Ataxia, spastic, 2, autosomal recessive;
NM_006612.6(KIF1C):c.1302G>C (p.Gln434His)	10749	KIF1C	Uncertain significance	rs144939400	RCV001231494;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4910346	4910346	17:g.4910346G>C	-
NM_006612.6(KIF1C):c.1302G>T (p.Gln434His)	10749	KIF1C	Benign	-1	RCV002770978;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4910346	4910346	NC_000017.10:g.4910346G>T	-
NM_006612.6(KIF1C):c.1310C>T (p.Pro437Leu)	10749	KIF1C	Conflicting interpretations of pathogenicity	rs148619121	RCV000981639\|RCV001452858\|RCV001847121\|RCV002549567;	N	MedGen:CN517202\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|MeSH:D030342,MedGen:C0950123	17	4910354	4910354	17:g.4910354C>T	-
NM_006612.6(KIF1C):c.1323G>T (p.Met441Ile)	10749	KIF1C	Uncertain significance	rs1567722733	RCV000699867;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4910367	4910367	NC_000017.10:g.4910367G>T	-	C1969796 611302 Ataxia, spastic, 2, autosomal recessive;
NM_006612.6(KIF1C):c.1335+11G>A	10749	KIF1C	Likely benign	-1	RCV002882306;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4910390	4910390	NC_000017.10:g.4910390G>A	-
NM_006612.6(KIF1C):c.1336-18C>T	10749	KIF1C	Benign	-1	RCV002631235;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4910540	4910540	NC_000017.10:g.4910540C>T	-
NM_006612.6(KIF1C):c.1336-10A>T	10749	KIF1C	Benign	-1	RCV002168381;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4910548	4910548	4910548	-
NM_006612.6(KIF1C):c.1336-8G>A	10749	KIF1C	Likely benign	-1	RCV002118748;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4910550	4910550	4910550	-
NM_006612.6(KIF1C):c.1336-3C>T	10749	KIF1C	Uncertain significance	-1	RCV002794848;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4910555	4910555	NC_000017.10:g.4910555C>T	-
NM_006612.6(KIF1C):c.1346A>G (p.Lys449Arg)	10749	KIF1C	Conflicting interpretations of pathogenicity	rs142046798	RCV000521926\|RCV001321550\|RCV001848914;	N	MedGen:CN517202\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	17	4910568	4910568	17:g.4910568A>G	ClinGen:CA8318947	CN169374 not specified;
NM_006612.6(KIF1C):c.1353A>G (p.Ile451Met)	10749	KIF1C	Uncertain significance	rs374100485	RCV001043582\|RCV001759752\|RCV002553098;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	17	4910575	4910575	17:g.4910575A>G	-
NM_006612.6(KIF1C):c.1356T>C (p.Ala452=)	10749	KIF1C	Likely benign	-1	RCV002095585;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4910578	4910578	4910578	-
NM_006612.6(KIF1C):c.1365C>T (p.Asn455=)	10749	KIF1C	Conflicting interpretations of pathogenicity	rs142825776	RCV000421127\|RCV001311102\|RCV001451575\|RCV001848778;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	17	4910587	4910587	17:g.4910587C>T	ClinGen:CA8318954	CN169374 not specified;
NM_006612.6(KIF1C):c.1387C>T (p.Arg463Cys)	10749	KIF1C	Uncertain significance	rs759516774	RCV000996458\|RCV001235396;	N	MedGen:CN517202\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4910609	4910609	17:g.4910609C>T	-
NM_006612.6(KIF1C):c.1415+8G>T	10749	KIF1C	Uncertain significance	-1	RCV002292940\|RCV003097820;	N	MedGen:CN517202\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4910645	4910645	4910645	-
NM_006612.6(KIF1C):c.1415+12G>A	10749	KIF1C	Likely benign	-1	RCV002926731;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4910649	4910649	NC_000017.10:g.4910649G>A	-
NM_006612.6(KIF1C):c.1415+15_1415+18del	10749	KIF1C	Likely benign	-1	RCV002206178;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4910652	4910655	4910651	-
NM_006612.6(KIF1C):c.1416-11T>C	10749	KIF1C	Likely benign	-1	RCV002814618;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4910751	4910751	NC_000017.10:g.4910751T>C	-
NM_006612.6(KIF1C):c.1487A>G (p.Lys496Arg)	10749	KIF1C	Uncertain significance	-1	RCV002705399;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4910833	4910833	NC_000017.10:g.4910833A>G	-
NM_006612.6(KIF1C):c.1488G>A (p.Lys496=)	10749	KIF1C	Likely benign	rs1269015879	RCV000966525\|RCV001475965;	N	MedGen:CN517202\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4910834	4910834	17:g.4910834G>A	-
NM_006612.6(KIF1C):c.1491+14C>T	10749	KIF1C	Likely benign	-1	RCV002953093;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4910851	4910851	NC_000017.10:g.4910851C>T	-
NM_006612.6(KIF1C):c.1492-19C>T	10749	KIF1C	Likely benign	-1	RCV002903948;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4916929	4916929	NC_000017.10:g.4916929C>T	-
NM_006612.6(KIF1C):c.1492-6G>A	10749	KIF1C	Likely benign	rs372819668	RCV000918046\|RCV001490086;	N	MedGen:CN517202\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4916942	4916942	17:g.4916942G>A	-
NM_006612.6(KIF1C):c.1563C>T (p.Gly521=)	10749	KIF1C	Conflicting interpretations of pathogenicity	rs376123205	RCV000945782\|RCV001847116;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	17	4917019	4917019	17:g.4917019C>T	-
NM_006612.6(KIF1C):c.1571+5C>T	10749	KIF1C	Uncertain significance	rs191292171	RCV001039829;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4917032	4917032	17:g.4917032C>T	-
NM_006612.6(KIF1C):c.1571+6G>A	10749	KIF1C	Likely benign	rs200438845	RCV000874045;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4917033	4917033	17:g.4917033G>A	-
NM_006612.6(KIF1C):c.1571+8G>T	10749	KIF1C	Likely benign	-1	RCV002685726;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4917035	4917035	NC_000017.10:g.4917035G>T	-
NM_006612.6(KIF1C):c.1571+16C>T	10749	KIF1C	Likely benign	-1	RCV002618472;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4917043	4917043	NC_000017.10:g.4917043C>T	-
NM_006612.6(KIF1C):c.1571+20C>A	10749	KIF1C	Likely benign	-1	RCV003040296;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4917047	4917047	NC_000017.10:g.4917047C>A	-
NM_006612.6(KIF1C):c.1572-3C>T	10749	KIF1C	Likely benign	rs141461209	RCV000873619;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4918035	4918035	17:g.4918035C>T	-
NM_006612.6(KIF1C):c.1598A>G (p.Lys533Arg)	10749	KIF1C	Uncertain significance	-1	RCV002948794;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4918064	4918064	NC_000017.10:g.4918064A>G	-
NM_006612.6(KIF1C):c.1605C>T (p.Thr535=)	10749	KIF1C	Benign	rs145893640	RCV000922084;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4918071	4918071	17:g.4918071C>T	-
NM_006612.6(KIF1C):c.1618C>T (p.Arg540Trp)	10749	KIF1C	Uncertain significance	-1	RCV002705431;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4918084	4918084	NC_000017.10:g.4918084C>T	-
NM_006612.6(KIF1C):c.1619G>A (p.Arg540Gln)	10749	KIF1C	Uncertain significance	-1	RCV001948387;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4918085	4918085	4918085	-
NM_006612.6(KIF1C):c.1623G>A (p.Glu541_Gln542=)	10749	KIF1C	Likely benign	-1	RCV003086011;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4918089	4918089	NC_000017.10:g.4918089G>A	-
NM_006612.6(KIF1C):c.1640G>A (p.Arg547Gln)	10749	KIF1C	Uncertain significance	-1	RCV001979815;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4918106	4918106	4918106	-
NM_006612.6(KIF1C):c.1656A>G (p.Pro552=)	10749	KIF1C	Benign	rs57144955	RCV000419092\|RCV000530891\|RCV001848783;	N	MedGen:CN169374\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	17	4918122	4918122	17:g.4918122A>G	ClinGen:CA8319073	C1969796 611302 Ataxia, spastic, 2, autosomal recessive;
NM_006612.6(KIF1C):c.1666+5T>C	10749	KIF1C	Conflicting interpretations of pathogenicity	rs1057523116	RCV000436674\|RCV002526347;	N	MedGen:CN169374\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4918137	4918137	17:g.4918137T>C	ClinGen:CA16607740	CN169374 not specified;
NM_006612.6(KIF1C):c.1666+9T>C	10749	KIF1C	Likely benign	-1	RCV002976035;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4918141	4918141	NC_000017.10:g.4918141T>C	-
NM_006612.6(KIF1C):c.1666+12G>C	10749	KIF1C	Benign/Likely benign	rs190329136	RCV000424419\|RCV002062764;	N	MedGen:CN169374\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4918144	4918144	17:g.4918144G>C	ClinGen:CA8319077	CN169374 not specified;
NM_006612.6(KIF1C):c.1666+13G>C	10749	KIF1C	Benign	-1	RCV002828825;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4918145	4918145	NC_000017.10:g.4918145G>C	-
NM_006612.6(KIF1C):c.1666+15G>A	10749	KIF1C	Likely benign	-1	RCV002801108;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4918147	4918147	NC_000017.10:g.4918147G>A	-
NM_006612.6(KIF1C):c.1666+18GA[2]	10749	KIF1C	Likely benign	-1	RCV002613058;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4918150	4918151	NC_000017.10:g.4918151AG[2]	-
NM_006612.6(KIF1C):c.1667-12C>T	10749	KIF1C	Likely benign	-1	RCV002663248;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4923279	4923279	NC_000017.10:g.4923279C>T	-
NC_000017.10:g.(?_4923281)_(4927456_?)del	10749	KIF1C	Uncertain significance	-1	RCV001936923;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4923281	4927456	-1	-
NM_006612.6(KIF1C):c.1667-8C>G	10749	KIF1C	Likely benign	-1	RCV002862145;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4923283	4923283	NC_000017.10:g.4923283C>G	-
NM_006612.6(KIF1C):c.1727C>T (p.Thr576Met)	10749	KIF1C	Uncertain significance	-1	RCV002926845;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4923351	4923351	NC_000017.10:g.4923351C>T	-
NM_006612.6(KIF1C):c.1741C>T (p.Leu581_Lys582=)	10749	KIF1C	Likely benign	-1	RCV002613675;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4923365	4923365	NC_000017.10:g.4923365C>T	-
NM_006612.6(KIF1C):c.1750G>A (p.Gly584Arg)	10749	KIF1C	Uncertain significance	-1	RCV002790742;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4923374	4923374	NC_000017.10:g.4923374G>A	-
NM_006612.6(KIF1C):c.1750+6_1750+8del	10749	KIF1C	Likely benign	rs551276433	RCV000875387\|RCV001847098;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	17	4923377	4923379	17:g.4923377_4923379del	-
NM_006612.6(KIF1C):c.1751-12_1751-10del	10749	KIF1C	Likely benign	rs756711554	RCV000486542\|RCV002525886;	N	MedGen:CN169374\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4923770	4923772	17:g.4923770_4923772del	ClinGen:CA8319116	CN169374 not specified;
NM_006612.6(KIF1C):c.1751-7T>A	10749	KIF1C	Benign	rs148404628	RCV000545613\|RCV000441176\|RCV001848772\|RCV002510890;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946\|MedGen:CN169374\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|MedGen:CN517202	17	4923780	4923780	17:g.4923780T>A	ClinGen:CA8319118	C1969796 611302 Ataxia, spastic, 2, autosomal recessive;
NM_006612.6(KIF1C):c.1767G>A (p.Met589Ile)	10749	KIF1C	Uncertain significance	-1	RCV002962419;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4923803	4923803	NC_000017.10:g.4923803G>A	-
NM_006612.6(KIF1C):c.1779C>T (p.His593_Val594=)	10749	KIF1C	Likely benign	-1	RCV003068239;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4923815	4923815	NC_000017.10:g.4923815C>T	-
NM_006612.6(KIF1C):c.1794C>A (p.Asn598Lys)	10749	KIF1C	Uncertain significance	-1	RCV001871113;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4923830	4923830	4923830	-
NM_006612.6(KIF1C):c.1800G>A (p.Pro600_Glu601=)	10749	KIF1C	Likely benign	-1	RCV003052904;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4923836	4923836	NC_000017.10:g.4923836G>A	-
NM_006612.6(KIF1C):c.1815G>A (p.Leu605=)	10749	KIF1C	Benign/Likely benign	rs78356534	RCV000560294\|RCV001172108\|RCV001848773;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946\|MedGen:CN517202\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	17	4923851	4923851	17:g.4923851G>A	ClinGen:CA8319124	C1969796 611302 Ataxia, spastic, 2, autosomal recessive;
NM_006612.6(KIF1C):c.1844C>T (p.Pro615Leu)	10749	KIF1C	Uncertain significance	-1	RCV001848498\|RCV002545272;	N	MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4923880	4923880	4923880	-
NM_006612.6(KIF1C):c.1847G>A (p.Gly616Glu)	10749	KIF1C	Uncertain significance	rs1283601775	RCV000814248;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4923883	4923883	17:g.4923883G>A	-
NM_006612.6(KIF1C):c.1851G>A (p.Pro617_Pro618=)	10749	KIF1C	Likely benign	-1	RCV002931877;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4923887	4923887	NC_000017.10:g.4923887G>A	-
NM_006612.6(KIF1C):c.1852C>T (p.Pro618Ser)	10749	KIF1C	Uncertain significance	rs1975068657	RCV001057549;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4923888	4923888	17:g.4923888C>T	-
NM_006612.6(KIF1C):c.1866C>T (p.Val622_Asp623=)	10749	KIF1C	Likely benign	-1	RCV002761350;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4923902	4923902	NC_000017.10:g.4923902C>T	-
NM_006612.6(KIF1C):c.1937+4C>T	10749	KIF1C	Uncertain significance	-1	RCV002932208;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4923977	4923977	NC_000017.10:g.4923977C>T	-
NM_006612.6(KIF1C):c.1937+5G>A	10749	KIF1C	Uncertain significance	-1	RCV001848499\|RCV002543407;	N	MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4923978	4923978	4923978	-
NM_006612.6(KIF1C):c.1937+11G>T	10749	KIF1C	Benign	rs346826	RCV000438242\|RCV001730681;	N	MedGen:CN169374\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4923984	4923984	17:g.4923984G>T	ClinGen:CA8319147	CN169374 not specified;
NM_006612.6(KIF1C):c.1937+14A>C	10749	KIF1C	Benign/Likely benign	rs188650236	RCV000610253\|RCV002065323;	N	MedGen:CN169374\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4923987	4923987	17:g.4923987A>C	ClinGen:CA8319148	CN169374 not specified;
NM_006612.6(KIF1C):c.1937+19C>T	10749	KIF1C	Likely benign	rs181358276	RCV000604179\|RCV002066894;	N	MedGen:CN169374\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4923992	4923992	17:g.4923992C>T	ClinGen:CA8319149	CN169374 not specified;
NM_006612.6(KIF1C):c.1937+20G>A	10749	KIF1C	Likely benign	-1	RCV002591344;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4923993	4923993	NC_000017.10:g.4923993G>A	-
NM_006612.6(KIF1C):c.1938-14C>T	10749	KIF1C	Likely benign	-1	RCV003078051;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4924087	4924087	NC_000017.10:g.4924087C>T	-
NM_006612.6(KIF1C):c.1938-13del	10749	KIF1C	Likely benign	-1	RCV002966103;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4924088	4924088	NC_000017.10:g.4924088del	-
NM_006612.6(KIF1C):c.1938-4C>G	10749	KIF1C	Benign	rs4790725	RCV000429962\|RCV001518481;	N	MedGen:CN169374\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4924097	4924097	17:g.4924097C>G	ClinGen:CA8319172	CN169374 not specified;
NM_006612.6(KIF1C):c.1938G>A (p.Arg646=)	10749	KIF1C	Uncertain significance	-1	RCV001953094;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4924101	4924101	4924101	-
NM_006612.6(KIF1C):c.1962C>T (p.Tyr654=)	10749	KIF1C	Likely benign	rs113561684	RCV000875919;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4924125	4924125	17:g.4924125C>T	-
NM_006612.6(KIF1C):c.1963C>T (p.Arg655Trp)	10749	KIF1C	Uncertain significance	-1	RCV002730158;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4924126	4924126	NC_000017.10:g.4924126C>T	-
NM_006612.6(KIF1C):c.1984G>A (p.Asp662Asn)	10749	KIF1C	Uncertain significance	-1	RCV002998920;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4924147	4924147	NC_000017.10:g.4924147G>A	-
NM_006612.6(KIF1C):c.2005C>T (p.Arg669Ter)	10749	KIF1C	Likely pathogenic	-1	RCV002790018;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4924168	4924168	NC_000017.10:g.4924168C>T	-
NM_006612.6(KIF1C):c.2006G>A (p.Arg669Gln)	10749	KIF1C	Uncertain significance	rs566736417	RCV001172109\|RCV001209516;	N	MedGen:CN517202\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4924169	4924169	17:g.4924169G>A	-
NM_006612.6(KIF1C):c.2010+4A>C	10749	KIF1C	Uncertain significance	-1	RCV003065761;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4924177	4924177	NC_000017.10:g.4924177A>C	-
NM_006612.6(KIF1C):c.2010+8G>A	10749	KIF1C	Likely benign	-1	RCV002585787;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4924181	4924181	NC_000017.10:g.4924181G>A	-
NM_006612.6(KIF1C):c.2011-7G>A	10749	KIF1C	Likely benign	-1	RCV001454682;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4925380	4925380	4925380	-
NM_006612.6(KIF1C):c.2099C>T (p.Pro700Leu)	10749	KIF1C	Conflicting interpretations of pathogenicity	rs148934699	RCV000191099\|RCV000415815\|RCV001847848;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946\|MedGen:CN517202\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	17	4925475	4925475	17:g.4925475C>T	ClinGen:CA250364	C1969796 611302 Ataxia, spastic, 2, autosomal recessive;
NM_006612.6(KIF1C):c.2100G>A (p.Pro700=)	10749	KIF1C	Likely benign	-1	RCV002119410;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4925476	4925476	4925476	-
NM_006612.6(KIF1C):c.2105C>T (p.Thr702Ile)	10749	KIF1C	Benign/Likely benign	rs138935423	RCV000558940\|RCV001081975\|RCV001848789;	N	MedGen:CN517202\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	17	4925481	4925481	17:g.4925481C>T	ClinGen:CA8319218	C1969796 611302 Ataxia, spastic, 2, autosomal recessive;
NM_006612.6(KIF1C):c.2109G>A (p.Thr703=)	10749	KIF1C	Conflicting interpretations of pathogenicity	rs372267137	RCV000602782\|RCV001855215;	N	MedGen:CN169374\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4925485	4925485	17:g.4925485G>A	ClinGen:CA8319220	CN169374 not specified;
NM_006612.6(KIF1C):c.2129G>A (p.Arg710His)	10749	KIF1C	Likely benign	-1	RCV002928630;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4925505	4925505	NC_000017.10:g.4925505G>A	-
NM_006612.6(KIF1C):c.2155C>T (p.Arg719Cys)	10749	KIF1C	Uncertain significance	-1	RCV001848501\|RCV002545274\|RCV002545273;	N	MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4925531	4925531	4925531	-
NM_006612.6(KIF1C):c.2167C>T (p.Arg723Cys)	10749	KIF1C	Uncertain significance	-1	RCV002913450\|RCV002913451;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4925543	4925543	NC_000017.10:g.4925543C>T	-
NM_006612.6(KIF1C):c.2184C>A (p.Ile728_Pro729=)	10749	KIF1C	Likely benign	-1	RCV002942190;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4925560	4925560	NC_000017.10:g.4925560C>A	-
NM_006612.6(KIF1C):c.2187C>T (p.Pro729=)	10749	KIF1C	Likely benign	-1	RCV001479076;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4925563	4925563	4925563	-
NM_006612.6(KIF1C):c.2191C>T (p.Arg731Ter)	10749	KIF1C	Pathogenic	rs587777197	RCV000087323;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4925567	4925567	17:g.4925567C>T	ClinGen:CA150723,OMIM:603060.0001	C1969796 611302 Ataxia, spastic, 2, autosomal recessive;
NM_006612.6(KIF1C):c.2202G>T (p.Leu734_Gln735=)	10749	KIF1C	Likely benign	-1	RCV003108824;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4925578	4925578	NC_000017.10:g.4925578G>T	-
NM_006612.6(KIF1C):c.2216C>T (p.Pro739Leu)	10749	KIF1C	Uncertain significance	rs376385209	RCV000821598;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4925592	4925592	17:g.4925592C>T	-
NM_006612.6(KIF1C):c.2218C>T (p.Arg740Cys)	10749	KIF1C	Uncertain significance	-1	RCV003069700\|RCV003093505;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946\|MeSH:D030342,MedGen:C0950123	17	4925594	4925594	NC_000017.10:g.4925594C>T	-
NM_006612.6(KIF1C):c.2220C>A (p.Arg740=)	10749	KIF1C	Likely benign	-1	RCV001483010;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4925596	4925596	4925596	-
NM_006612.6(KIF1C):c.2229C>T (p.Thr743_Met744=)	10749	KIF1C	Likely benign	-1	RCV002632031;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4925605	4925605	NC_000017.10:g.4925605C>T	-
NM_006612.6(KIF1C):c.2231T>C (p.Met744Thr)	10749	KIF1C	Uncertain significance	-1	RCV001941167;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4925607	4925607	4925607	-
NM_006612.6(KIF1C):c.2253G>A (p.Ala751=)	10749	KIF1C	Likely benign	-1	RCV002090087;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4925629	4925629	4925629	-
NM_006612.6(KIF1C):c.2272G>C (p.Glu758Gln)	10749	KIF1C	Uncertain significance	-1	RCV002941884;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4925648	4925648	NC_000017.10:g.4925648G>C	-
NM_006612.6(KIF1C):c.2293C>T (p.Arg765Cys)	10749	KIF1C	Uncertain significance	rs767797244	RCV001318630;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4925669	4925669	4925669	-
NM_006612.6(KIF1C):c.2298C>T (p.His766=)	10749	KIF1C	Benign	rs73345356	RCV000425902\|RCV000537257\|RCV001848784;	N	MedGen:CN169374\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	17	4925674	4925674	17:g.4925674C>T	ClinGen:CA8319261	C1969796 611302 Ataxia, spastic, 2, autosomal recessive;
NM_006612.6(KIF1C):c.2299G>A (p.Gly767Arg)	10749	KIF1C	Conflicting interpretations of pathogenicity	rs118037269	RCV000516023\|RCV000645370\|RCV001085955;	N	MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|MedGen:CN517202\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4925675	4925675	NC_000017.10:g.4925675G>A	ClinGen:CA8319262	C1969796 611302 Ataxia, spastic, 2, autosomal recessive;
NM_006612.6(KIF1C):c.2303G>A (p.Arg768Gln)	10749	KIF1C	Uncertain significance	-1	RCV001915186;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4925679	4925679	4925679	-
NM_006612.6(KIF1C):c.2322G>C (p.Leu774=)	10749	KIF1C	Likely benign	rs747862350	RCV000924833\|RCV001500132;	N	MedGen:CN517202\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4925698	4925698	17:g.4925698G>C	-
NM_006612.6(KIF1C):c.2325C>T (p.Ala775=)	10749	KIF1C	Benign	rs113398149	RCV000877393;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4925701	4925701	17:g.4925701C>T	-
NM_006612.6(KIF1C):c.2339G>A (p.Arg780Gln)	10749	KIF1C	Uncertain significance	-1	RCV003084620;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4925715	4925715	NC_000017.10:g.4925715G>A	-
NM_006612.6(KIF1C):c.2366C>T (p.Pro789Leu)	10749	KIF1C	Uncertain significance	rs377528420	RCV001212450;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4925742	4925742	17:g.4925742C>T	-
NM_006612.6(KIF1C):c.2368G>A (p.Asp790Asn)	10749	KIF1C	Uncertain significance	rs764241869	RCV001342537;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4925744	4925744	4925744	-
NM_006612.6(KIF1C):c.2371G>A (p.Gly791Ser)	10749	KIF1C	Uncertain significance	-1	RCV002994159;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4925747	4925747	NC_000017.10:g.4925747G>A	-
NM_006612.6(KIF1C):c.2377G>A (p.Gly793Arg)	10749	KIF1C	Uncertain significance	rs1393424251	RCV001238953;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4925753	4925753	17:g.4925753G>A	-
NM_006612.6(KIF1C):c.2382C>T (p.Asp794_Ala795=)	10749	KIF1C	Likely benign	-1	RCV002727328;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4925758	4925758	NC_000017.10:g.4925758C>T	-
NM_006612.6(KIF1C):c.2425G>C (p.Glu809Gln)	10749	KIF1C	Uncertain significance	-1	RCV002766294;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4925801	4925801	NC_000017.10:g.4925801G>C	-
NM_006612.6(KIF1C):c.2429A>C (p.Glu810Ala)	10749	KIF1C	Uncertain significance	rs182610831	RCV000807662;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4925805	4925805	17:g.4925805A>C	-
NM_006612.6(KIF1C):c.2434G>C (p.Gly812Arg)	10749	KIF1C	Uncertain significance	-1	RCV002716983;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4925810	4925810	NC_000017.10:g.4925810G>C	-
NM_006612.6(KIF1C):c.2439T>C (p.Gly813_Gly814=)	10749	KIF1C	Likely benign	-1	RCV002899562;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4925815	4925815	NC_000017.10:g.4925815T>C	-
NM_006612.6(KIF1C):c.2443G>A (p.Ala815Thr)	10749	KIF1C	Uncertain significance	-1	RCV001998573;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4925819	4925819	4925819	-
NM_006612.6(KIF1C):c.2468A>T (p.Glu823Val)	10749	KIF1C	Uncertain significance	-1	RCV003081593;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4925844	4925844	NC_000017.10:g.4925844A>T	-
NM_006612.6(KIF1C):c.2470G>A (p.Gly824Arg)	10749	KIF1C	Likely benign	-1	RCV002204116;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4925846	4925846	4925846	-
NM_006612.6(KIF1C):c.2476C>G (p.Arg826Gly)	10749	KIF1C	Uncertain significance	-1	RCV002785514;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4925852	4925852	NC_000017.10:g.4925852C>G	-
NM_006612.6(KIF1C):c.2478del (p.Ala828fs)	10749	KIF1C	Pathogenic	rs1131690773	RCV000492986\|RCV001267982;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946\|MedGen:CN517202	17	4925854	4925854	NC_000017.10:g.4925854del	ClinGen:CA645369639	C1969796 611302 Ataxia, spastic, 2, autosomal recessive;
NM_006612.6(KIF1C):c.2481G>A (p.Gly827=)	10749	KIF1C	Likely benign	rs146679209	RCV000547464\|RCV000613924\|RCV001726231;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946\|MedGen:CN169374\|MedGen:CN517202	17	4925857	4925857	NC_000017.10:g.4925857G>A	ClinGen:CA8319300	C1969796 611302 Ataxia, spastic, 2, autosomal recessive;
NM_006612.6(KIF1C):c.2484G>A (p.Ala828_Glu829=)	10749	KIF1C	Likely benign	-1	RCV002968005;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4925860	4925860	NC_000017.10:g.4925860G>A	-
NM_006612.6(KIF1C):c.2485G>A (p.Glu829Lys)	10749	KIF1C	Uncertain significance	rs539082919	RCV000645366;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4925861	4925861	NC_000017.10:g.4925861G>A	ClinGen:CA287186200	C1969796 611302 Ataxia, spastic, 2, autosomal recessive;
NM_006612.6(KIF1C):c.2508C>T (p.His836_Ile837=)	10749	KIF1C	Likely benign	-1	RCV002790933;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4925884	4925884	NC_000017.10:g.4925884C>T	-
NM_006612.6(KIF1C):c.2512G>T (p.Asp838Tyr)	10749	KIF1C	Uncertain significance	-1	RCV003079394;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4925888	4925888	NC_000017.10:g.4925888G>T	-
NM_006612.6(KIF1C):c.2516A>G (p.Lys839Arg)	10749	KIF1C	Uncertain significance	-1	RCV002952454;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4925892	4925892	NC_000017.10:g.4925892A>G	-
NM_006612.6(KIF1C):c.2522C>T (p.Thr841Met)	10749	KIF1C	Uncertain significance	rs780729030	RCV000701825;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4925898	4925898	NC_000017.10:g.4925898C>T	-	C1969796 611302 Ataxia, spastic, 2, autosomal recessive;
NM_006612.6(KIF1C):c.2523G>C (p.Thr841=)	10749	KIF1C	Likely benign	rs747321053	RCV000557602;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4925899	4925899	17:g.4925899G>C	ClinGen:CA497538969	C1969796 611302 Ataxia, spastic, 2, autosomal recessive;
NM_006612.6(KIF1C):c.2545C>T (p.Leu849=)	10749	KIF1C	Likely benign	-1	RCV002109471;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4925921	4925921	4925921	-
NM_006612.6(KIF1C):c.2566C>T (p.Arg856Trp)	10749	KIF1C	Uncertain significance	-1	RCV002909782;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4925942	4925942	NC_000017.10:g.4925942C>T	-
NM_006612.6(KIF1C):c.2567G>A (p.Arg856Gln)	10749	KIF1C	Uncertain significance	rs372705324	RCV001323445;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4925943	4925943	4925943	-
NM_006612.6(KIF1C):c.2578G>A (p.Ala860Thr)	10749	KIF1C	Uncertain significance	rs143671350	RCV000498097\|RCV000820352\|RCV001848862\|RCV002524080;	N	MedGen:CN517202\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|MeSH:D030342,MedGen:C0950123	17	4925954	4925954	NC_000017.10:g.4925954G>A	ClinGen:CA8319324	CN169374 not specified;
NM_006612.6(KIF1C):c.2584C>T (p.Arg862Trp)	10749	KIF1C	Uncertain significance	-1	RCV002726295;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4925960	4925960	NC_000017.10:g.4925960C>T	-
NM_006612.6(KIF1C):c.2591G>A (p.Arg864His)	10749	KIF1C	Uncertain significance	rs146628704	RCV000515870\|RCV000809178;	N	MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4925967	4925967	NC_000017.10:g.4925967G>A	ClinGen:CA8319328	C0037773 Hereditary spastic paraplegia;
NM_006612.6(KIF1C):c.2597T>A (p.Leu866His)	10749	KIF1C	Uncertain significance	-1	RCV002016143;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4925973	4925973	4925973	-
NM_006612.6(KIF1C):c.2599C>T (p.Arg867Cys)	10749	KIF1C	Uncertain significance	-1	RCV002628661;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4925975	4925975	NC_000017.10:g.4925975C>T	-
NM_006612.6(KIF1C):c.2600G>C (p.Arg867Pro)	10749	KIF1C	Uncertain significance	-1	RCV003062415;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4925976	4925976	NC_000017.10:g.4925976G>C	-
NM_006612.6(KIF1C):c.2601C>T (p.Arg867_Met868=)	10749	KIF1C	Likely benign	-1	RCV002877611;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4925977	4925977	NC_000017.10:g.4925977C>T	-
NM_006612.6(KIF1C):c.2628+17G>T	10749	KIF1C	Likely benign	-1	RCV003076530;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4926021	4926021	NC_000017.10:g.4926021G>T	-
NC_000017.10:g.(?_4926743)_(4927446_?)del	10749	KIF1C	Uncertain significance	-1	RCV003109542;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4926743	4927446		-
NM_006612.6(KIF1C):c.2646T>C (p.Asn882=)	10749	KIF1C	Benign	rs77312856	RCV000875856\|RCV001655630;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946\|MedGen:CN517202	17	4926780	4926780	17:g.4926780T>C	-
NM_006612.6(KIF1C):c.2646_2647delinsCC (p.Glu883Gln)	10749	KIF1C	Uncertain significance	-1	RCV002917225;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4926780	4926781	NC_000017.10:g.4926780_4926781delinsCC	-
NM_006612.6(KIF1C):c.2650G>A (p.Glu884Lys)	10749	KIF1C	Uncertain significance	rs1297313354	RCV001339057;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4926784	4926784	4926784	-
NM_006612.6(KIF1C):c.2666C>T (p.Pro889Leu)	10749	KIF1C	Uncertain significance	-1	RCV003079406;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4926800	4926800	NC_000017.10:g.4926800C>T	-
NM_006612.6(KIF1C):c.2675C>T (p.Pro892Leu)	10749	KIF1C	Uncertain significance	-1	RCV001998608\|RCV002267136;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946\|MedGen:CN517202	17	4926809	4926809	4926809	-
NM_006612.6(KIF1C):c.2676G>A (p.Pro892=)	10749	KIF1C	Likely benign	rs200822779	RCV000645371;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4926810	4926810	17:g.4926810G>A	ClinGen:CA8319360	C1969796 611302 Ataxia, spastic, 2, autosomal recessive;
NM_006612.6(KIF1C):c.2694A>G (p.Ala898=)	10749	KIF1C	Likely benign	-1	RCV001409102;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4926828	4926828	4926828	-
NM_006612.6(KIF1C):c.2701G>A (p.Glu901Lys)	10749	KIF1C	Uncertain significance	rs751072487	RCV000692445;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4926835	4926835	NC_000017.10:g.4926835G>A	-	C1969796 611302 Ataxia, spastic, 2, autosomal recessive;
NM_006612.6(KIF1C):c.2711C>G (p.Pro904Arg)	10749	KIF1C	Uncertain significance	rs1395728872	RCV000535949;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4926845	4926845	NC_000017.10:g.4926845C>G	ClinGen:CA397317106	C1969796 611302 Ataxia, spastic, 2, autosomal recessive;
NM_006612.6(KIF1C):c.2719C>T (p.Arg907Cys)	10749	KIF1C	Uncertain significance	rs758990694	RCV000645368;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4926853	4926853	17:g.4926853C>T	ClinGen:CA8319368	C1969796 611302 Ataxia, spastic, 2, autosomal recessive;
NM_006612.6(KIF1C):c.2726C>A (p.Pro909Gln)	10749	KIF1C	Benign	rs78970955	RCV000419762\|RCV000548436\|RCV001848769;	N	MedGen:CN169374\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	17	4926860	4926860	17:g.4926860C>A	ClinGen:CA8319370	C1969796 611302 Ataxia, spastic, 2, autosomal recessive;
NM_006612.6(KIF1C):c.2734C>T (p.Arg912Trp)	10749	KIF1C	Conflicting interpretations of pathogenicity	rs202232792	RCV000191100\|RCV000516061\|RCV000859538;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|MedGen:CN517202	17	4926868	4926868	17:g.4926868C>T	ClinGen:CA250366	C1969796 611302 Ataxia, spastic, 2, autosomal recessive;
NM_006612.6(KIF1C):c.2737C>T (p.Pro913Ser)	10749	KIF1C	Uncertain significance	-1	RCV002462601\|RCV003103137;	N	MedGen:CN517202\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4926871	4926871	NC_000017.10:g.4926871C>T	-
NM_006612.6(KIF1C):c.2740C>T (p.Pro914Ser)	10749	KIF1C	Uncertain significance	-1	RCV002048023;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4926874	4926874	4926874	-
NM_006612.6(KIF1C):c.2745G>A (p.Ser915_Pro916=)	10749	KIF1C	Likely benign	-1	RCV002900192;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4926879	4926879	NC_000017.10:g.4926879G>A	-
NM_006612.6(KIF1C):c.2748A>G (p.Pro916=)	10749	KIF1C	Benign	rs346828	RCV000419736\|RCV001518553;	N	MedGen:CN169374\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4926882	4926882	17:g.4926882A>G	ClinGen:CA8319379	CN169374 not specified;
NM_006612.6(KIF1C):c.2748_2749delinsGA (p.Pro917Thr)	10749	KIF1C	Uncertain significance	rs1555571945	RCV000526698;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4926882	4926883	NC_000017.10:g.4926882_4926883delinsGA	ClinGen:CA658658530	C1969796 611302 Ataxia, spastic, 2, autosomal recessive;
NM_006612.6(KIF1C):c.2777G>A (p.Arg926Gln)	10749	KIF1C	Uncertain significance	rs200925951	RCV001314928;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4926911	4926911	4926911	-
NM_006612.6(KIF1C):c.2781C>T (p.Leu927_Met928=)	10749	KIF1C	Likely benign	-1	RCV003089619;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4926915	4926915	NC_000017.10:g.4926915C>T	-
NM_006612.6(KIF1C):c.2819G>A (p.Arg940His)	10749	KIF1C	Uncertain significance	rs774901685	RCV001338550;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4926953	4926953	4926953	-
NM_006612.6(KIF1C):c.2833G>A (p.Glu945Lys)	10749	KIF1C	Uncertain significance	-1	RCV003118658;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4926967	4926967	NC_000017.10:g.4926967G>A	-
NM_006612.6(KIF1C):c.2853_2861del (p.949LQG[1])	10749	KIF1C	Uncertain significance	-1	RCV003005270;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4926979	4926987	NC_000017.10:g.4926987_4926995del	-
NM_006612.6(KIF1C):c.2872C>T (p.Arg958Trp)	10749	KIF1C	Uncertain significance	-1	RCV002618271;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4927006	4927006	NC_000017.10:g.4927006C>T	-
NM_006612.6(KIF1C):c.2878G>C (p.Gly960Arg)	10749	KIF1C	Uncertain significance	-1	RCV003056658;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4927012	4927012	NC_000017.10:g.4927012G>C	-
NM_006612.6(KIF1C):c.2883G>C (p.Gly961_Leu962=)	10749	KIF1C	Likely benign	-1	RCV002890258;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4927017	4927017	NC_000017.10:g.4927017G>C	-
NM_006612.6(KIF1C):c.2887C>T (p.Arg963Cys)	10749	KIF1C	Uncertain significance	-1	RCV001767719\|RCV002539135;	N	MedGen:CN517202\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4927021	4927021	4927021	-
NM_006612.6(KIF1C):c.2902C>A (p.Arg968Ser)	10749	KIF1C	Uncertain significance	-1	RCV003073024;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4927036	4927036	NC_000017.10:g.4927036C>A	-
NM_006612.6(KIF1C):c.2908G>A (p.Val970Met)	10749	KIF1C	Uncertain significance	-1	RCV002802049;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4927042	4927042	NC_000017.10:g.4927042G>A	-
NM_006612.6(KIF1C):c.2911C>A (p.Pro971Thr)	10749	KIF1C	Uncertain significance	-1	RCV002900470;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4927045	4927045	NC_000017.10:g.4927045C>A	-
NM_006612.6(KIF1C):c.2913C>T (p.Pro971=)	10749	KIF1C	Likely benign	-1	RCV001417005;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4927047	4927047	4927047	-
NM_006612.6(KIF1C):c.2919C>T (p.His973_Asp974=)	10749	KIF1C	Likely benign	-1	RCV002654222;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4927053	4927053	NC_000017.10:g.4927053C>T	-
NM_006612.6(KIF1C):c.2920G>A (p.Asp974Asn)	10749	KIF1C	Conflicting interpretations of pathogenicity	rs550136320	RCV000523662\|RCV001350123\|RCV001848915;	N	MedGen:CN517202\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	17	4927054	4927054	17:g.4927054G>A	ClinGen:CA8319435	CN169374 not specified;
NM_006612.6(KIF1C):c.2951A>C (p.Asn984Thr)	10749	KIF1C	Uncertain significance	rs372031774	RCV000700580;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4927085	4927085	NC_000017.10:g.4927085A>C	-	C1969796 611302 Ataxia, spastic, 2, autosomal recessive;
NM_006612.6(KIF1C):c.2961C>G (p.His987Gln)	10749	KIF1C	Uncertain significance	rs1975146105	RCV001303010;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4927095	4927095	4927095	-
NM_006612.6(KIF1C):c.2963G>A (p.Arg988Gln)	10749	KIF1C	Uncertain significance	-1	RCV002701083;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4927097	4927097	NC_000017.10:g.4927097G>A	-
NM_006612.6(KIF1C):c.2987G>A (p.Ser996Asn)	10749	KIF1C	Benign	rs115332491	RCV000541436\|RCV001644654\|RCV001848961;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946\|MedGen:CN517202\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	17	4927121	4927121	NC_000017.10:g.4927121G>A	ClinGen:CA8319446	C1969796 611302 Ataxia, spastic, 2, autosomal recessive;
NM_006612.6(KIF1C):c.2989G>A (p.Gly997Arg)	10749	KIF1C	Uncertain significance	-1	RCV001786869\|RCV002541251;	N	MedGen:CN517202\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4927123	4927123	4927123	-
NM_006612.6(KIF1C):c.2999C>T (p.Pro1000Leu)	10749	KIF1C	Uncertain significance	rs267604960	RCV000797956;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4927133	4927133	17:g.4927133C>T	-
NM_006612.6(KIF1C):c.3005C>T (p.Pro1002Leu)	10749	KIF1C	Uncertain significance	rs143987985	RCV000808959;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4927139	4927139	17:g.4927139C>T	-
NM_006612.6(KIF1C):c.3006G>A (p.Pro1002=)	10749	KIF1C	Likely benign	rs765019500	RCV000875029\|RCV001472353;	N	MedGen:CN517202\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4927140	4927140	17:g.4927140G>A	-
NM_006612.6(KIF1C):c.3024G>A (p.Glu1008_Val1009=)	10749	KIF1C	Likely benign	-1	RCV002913371;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4927158	4927158	NC_000017.10:g.4927158G>A	-
NM_006612.6(KIF1C):c.3027C>T (p.Val1009=)	10749	KIF1C	Benign/Likely benign	rs141589627	RCV000873592\|RCV001522845;	N	MedGen:CN517202\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4927161	4927161	17:g.4927161C>T	ClinGen:CA8319457	CN169374 not specified;
NM_006612.6(KIF1C):c.3027C>G (p.Val1009_Thr1010=)	10749	KIF1C	Likely benign	-1	RCV002771421;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4927161	4927161	NC_000017.10:g.4927161C>G	-
NM_006612.6(KIF1C):c.3049G>A (p.Ala1017Thr)	10749	KIF1C	Benign/Likely benign	rs185185243	RCV000876192\|RCV001847103;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	17	4927183	4927183	17:g.4927183G>A	-
NM_006612.6(KIF1C):c.3049G>T (p.Ala1017Ser)	10749	KIF1C	Uncertain significance	-1	RCV002632047;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4927183	4927183	NC_000017.10:g.4927183G>T	-
NM_006612.6(KIF1C):c.3050C>T (p.Ala1017Val)	10749	KIF1C	Uncertain significance	-1	RCV001371602;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4927184	4927184	4927184	-
NM_006612.6(KIF1C):c.3052C>T (p.Arg1018Cys)	10749	KIF1C	Uncertain significance	-1	RCV002632290;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4927186	4927186	NC_000017.10:g.4927186C>T	-
NM_006612.6(KIF1C):c.3062C>T (p.Pro1021Leu)	10749	KIF1C	Uncertain significance	rs369620316	RCV000551616;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4927196	4927196	NC_000017.10:g.4927196C>T	ClinGen:CA8319471	C1969796 611302 Ataxia, spastic, 2, autosomal recessive;
NM_006612.6(KIF1C):c.3070C>T (p.Arg1024Ter)	10749	KIF1C	Uncertain significance	rs372792586	RCV001057325;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4927204	4927204	17:g.4927204C>T	-
NM_006612.6(KIF1C):c.3071G>A (p.Arg1024Gln)	10749	KIF1C	Likely benign	rs141225452	RCV000525348\|RCV001090632\|RCV001848791;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946\|MedGen:CN517202\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	17	4927205	4927205	17:g.4927205G>A	ClinGen:CA8319474	C1969796 611302 Ataxia, spastic, 2, autosomal recessive;
NM_006612.6(KIF1C):c.3071G>C (p.Arg1024Pro)	10749	KIF1C	Uncertain significance	-1	RCV002899819;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4927205	4927205	NC_000017.10:g.4927205G>C	-
NM_006612.6(KIF1C):c.3082C>T (p.His1028Tyr)	10749	KIF1C	Uncertain significance	-1	RCV003019412;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4927216	4927216	NC_000017.10:g.4927216C>T	-
NM_006612.6(KIF1C):c.3084T>C (p.His1028_Pro1029=)	10749	KIF1C	Likely benign	-1	RCV003013697;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4927218	4927218	NC_000017.10:g.4927218T>C	-
NM_006612.6(KIF1C):c.3086C>T (p.Pro1029Leu)	10749	KIF1C	Uncertain significance	-1	RCV002725978;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4927220	4927220	NC_000017.10:g.4927220C>T	-
NM_006612.6(KIF1C):c.3088C>T (p.Arg1030Cys)	10749	KIF1C	Uncertain significance	rs62072492	RCV000691418\|RCV000996460\|RCV001849055\|RCV002544910;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946\|MedGen:CN517202\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685\|MeSH:D030342,MedGen:C0950123	17	4927222	4927222	17:g.4927222C>T	-	C1969796 611302 Ataxia, spastic, 2, autosomal recessive;
NM_006612.6(KIF1C):c.3089G>A (p.Arg1030His)	10749	KIF1C	Uncertain significance	-1	RCV002918381;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4927223	4927223	NC_000017.10:g.4927223G>A	-
NM_006612.6(KIF1C):c.3098C>T (p.Ser1033Phe)	10749	KIF1C	Uncertain significance	rs779584975	RCV000804412;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4927232	4927232	17:g.4927232C>T	-
NM_006612.6(KIF1C):c.3116G>A (p.Arg1039Gln)	10749	KIF1C	Uncertain significance	-1	RCV003007434;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4927250	4927250	NC_000017.10:g.4927250G>A	-
NM_006612.6(KIF1C):c.3121C>T (p.Arg1041Trp)	10749	KIF1C	Uncertain significance	rs200388087	RCV001300848\|RCV001847234;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	17	4927255	4927255	4927255	-
NM_006612.6(KIF1C):c.3122G>A (p.Arg1041Gln)	10749	KIF1C	Likely benign	rs201887996	RCV000973861\|RCV002066442;	N	MedGen:CN517202\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4927256	4927256	17:g.4927256G>A	-
NM_006612.6(KIF1C):c.3127G>A (p.Ala1043Thr)	10749	KIF1C	Uncertain significance	-1	RCV001952849;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4927261	4927261	4927261	-
NM_006612.6(KIF1C):c.3128C>T (p.Ala1043Val)	10749	KIF1C	Uncertain significance	rs373541138	RCV000810755\|RCV002538076;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946\|MeSH:D030342,MedGen:C0950123	17	4927262	4927262	17:g.4927262C>T	-
NM_006612.6(KIF1C):c.3129G>A (p.Ala1043_Gly1044=)	10749	KIF1C	Likely benign	-1	RCV002962870;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4927263	4927263	NC_000017.10:g.4927263G>A	-
NM_006612.6(KIF1C):c.3129G>C (p.Ala1043_Gly1044=)	10749	KIF1C	Likely benign	-1	RCV002976454;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4927263	4927263	NC_000017.10:g.4927263G>C	-
NM_006612.6(KIF1C):c.3140A>G (p.Gln1047Arg)	10749	KIF1C	Uncertain significance	rs1240123302	RCV001301486;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4927274	4927274	4927274	-
NM_006612.6(KIF1C):c.3198A>G (p.Gln1066=)	10749	KIF1C	Conflicting interpretations of pathogenicity	rs143972053	RCV000871154\|RCV001847086;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946\|MONDO:MONDO:0019064,MedGen:C0037773,OMIM:PS303350, Orphanet:685	17	4927332	4927332	17:g.4927332A>G	-
NM_006612.6(KIF1C):c.3207A>C (p.Pro1069=)	10749	KIF1C	Likely benign	rs768877923	RCV000893076\|RCV001414863;	N	MedGen:CN517202\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4927341	4927341	17:g.4927341A>C	-
NM_006612.6(KIF1C):c.3217C>T (p.Pro1073Ser)	10749	KIF1C	Uncertain significance	-1	RCV002000921;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4927351	4927351	4927351	-
NM_006612.6(KIF1C):c.3219C>T (p.Pro1073_Pro1074=)	10749	KIF1C	Likely benign	-1	RCV003121701;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4927353	4927353	NC_000017.10:g.4927353C>T	-
NM_006612.6(KIF1C):c.3229C>T (p.Arg1077Cys)	10749	KIF1C	Uncertain significance	-1	RCV002786310;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4927363	4927363	NC_000017.10:g.4927363C>T	-
NM_006612.6(KIF1C):c.3239del (p.Pro1080fs)	10749	KIF1C	Uncertain significance	-1	RCV001895778;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4927368	4927368	4927367	-
NM_006612.6(KIF1C):c.3236C>A (p.Pro1079His)	10749	KIF1C	Uncertain significance	rs1975155981	RCV001334577;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4927370	4927370	4927370	-
NM_006612.6(KIF1C):c.3237C>T (p.Pro1079_Pro1080=)	10749	KIF1C	Likely benign	-1	RCV002899001;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4927371	4927371	NC_000017.10:g.4927371C>T	-
NM_006612.6(KIF1C):c.3239C>G (p.Pro1080Arg)	10749	KIF1C	Uncertain significance	-1	RCV002912498;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4927373	4927373	NC_000017.10:g.4927373C>G	-
NM_006612.6(KIF1C):c.3253C>T (p.Pro1085Ser)	10749	KIF1C	Uncertain significance	-1	RCV002617998;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4927387	4927387	NC_000017.10:g.4927387C>T	-
NM_006612.6(KIF1C):c.3265C>T (p.Arg1089Trp)	10749	KIF1C	Uncertain significance	-1	RCV002908502;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4927399	4927399	NC_000017.10:g.4927399C>T	-
NM_006612.6(KIF1C):c.3272G>A (p.Arg1091His)	10749	KIF1C	Conflicting interpretations of pathogenicity	rs201800868	RCV000502000\|RCV000953949;	N	MedGen:CN169374\|MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4927406	4927406	NC_000017.10:g.4927406G>A	ClinGen:CA8319527	CN169374 not specified;
NM_006612.6(KIF1C):c.3277G>A (p.Ala1093Thr)	10749	KIF1C	Uncertain significance	-1	RCV001370717;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4927411	4927411	4927411	-
NM_006612.6(KIF1C):c.3292G>A (p.Glu1098Lys)	10749	KIF1C	Uncertain significance	rs1975158981	RCV001242669;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4927426	4927426	17:g.4927426G>A	-
NM_006612.6(KIF1C):c.3302del (p.Ala1101fs)	10749	KIF1C	Uncertain significance	rs375445356	RCV001049069;	N	MONDO:MONDO:0012651,MedGen:C1969796,OMIM:611302, Orphanet:397946	17	4927436	4927436	17:g.4927436_4927436del	-

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