"GeneDx"[submitter] AND "KIF1C"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC121848004, LOC121848005 +457 more	Copy number loss	See cases	GPathogenic
Select item 59563	GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1	AIPL1, ALOX12 +290 more	Copy number loss	See cases	GPathogenic
Select item 511252	NM_006612.6(KIF1C):c.-169C>G	KIF1C, LOC130060061	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 383986	NM_006612.6(KIF1C):c.-149+13G>C	KIF1C, LOC130060061	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 390513	NM_006612.6(KIF1C):c.-149+16G>A	KIF1C, LOC130060061	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1526316	NM_006612.6(KIF1C):c.-148-187G>A	KIF1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 508694	NM_006612.6(KIF1C):c.-141C>T	KIF1C	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 515316	NM_006612.6(KIF1C):c.-28+8G>A	KIF1C	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1238133	NM_006612.6(KIF1C):c.-27-120T>C	KIF1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 468851	NM_006612.6(KIF1C):c.18G>A (p.Val6=)	KIF1C	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 1326404	NM_006612.6(KIF1C):c.107-78G>A	KIF1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 648718	NM_006612.6(KIF1C):c.126G>C (p.Gln42His)	KIF1C (Q42H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1305488	NM_006612.6(KIF1C):c.152C>T (p.Thr51Ile)	KIF1C (T51I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 383662	NM_006612.6(KIF1C):c.153C>T (p.Thr51=)	KIF1C	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1601024	NM_006612.6(KIF1C):c.183+17G>C	KIF1C	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1257950	NM_006612.6(KIF1C):c.183+21A>G	KIF1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682849	NM_006612.6(KIF1C):c.184-141T>A	KIF1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 380914	NM_006612.6(KIF1C):c.231T>C (p.Ile77=)	KIF1C	Single nucleotide variant (synonymous variant)	Spastic ataxia 2 +2 more	GBenign
Select item 1250828	NM_006612.6(KIF1C):c.363+180del	KIF1C	Deletion (intron variant)	not provided	GBenign
Select item 1295821	NM_006612.6(KIF1C):c.363+203del	KIF1C	Deletion (intron variant)	not provided	GBenign
Select item 672496	NM_006612.6(KIF1C):c.364-227A>G	KIF1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288901	NM_006612.6(KIF1C):c.364-123C>A	KIF1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1218418	NM_006612.6(KIF1C):c.429+161C>T	KIF1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1223514	NM_006612.6(KIF1C):c.430-132C>G	KIF1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230838	NM_006612.6(KIF1C):c.430-54C>T	KIF1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 390509	NM_006612.6(KIF1C):c.430-10T>C	KIF1C	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 451810	NM_006612.6(KIF1C):c.488G>A (p.Arg163Gln)	KIF1C (R163Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 645785	NM_006612.6(KIF1C):c.500G>A (p.Arg167Gln)	KIF1C (R167Q)	Single nucleotide variant (missense variant)	Spastic ataxia 2 +2 more	GConflicting classifications of pathogenicity
Select item 1310955	NM_006612.6(KIF1C):c.528G>T (p.Pro176=)	KIF1C	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1260799	NM_006612.6(KIF1C):c.609-35A>G	KIF1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 423907	NM_006612.6(KIF1C):c.646C>T (p.Arg216Cys)	KIF1C (R216C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 468859	NM_006612.6(KIF1C):c.720+20dup	KIF1C	Duplication (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1167058	NM_006612.6(KIF1C):c.720+20del	KIF1C	Deletion (intron variant)	Spastic ataxia 2 +2 more	GBenign/Likely benign
Select item 516675	NM_006612.6(KIF1C):c.720+19_720+20del	KIF1C	Deletion (intron variant)	not provided +1 more	GBenign
Select item 420600	NM_006612.6(KIF1C):c.720+17_720+19delinsG	KIF1C	Indel (intron variant)	not specified	GLikely benign
Select item 384347	NM_006612.6(KIF1C):c.720+17C>G	KIF1C	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 679583	NM_006612.6(KIF1C):c.720+18C>A	KIF1C	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1203949	NM_006612.6(KIF1C):c.720+19C>G	KIF1C	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 513831	NM_006612.6(KIF1C):c.720+20C>G	KIF1C	Single nucleotide variant (intron variant)	Spastic ataxia 2 +1 more	GLikely benign
Select item 1250975	NM_006612.6(KIF1C):c.720+212dup	KIF1C	Duplication (intron variant)	not provided	GBenign
Select item 1274745	NM_006612.6(KIF1C):c.720+212del	KIF1C	Deletion (intron variant)	not provided	GBenign
Select item 1221090	NM_006612.6(KIF1C):c.721-197G>A	KIF1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216524	NM_006612.6(KIF1C):c.721-81A>G	KIF1C, LOC126862472	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203512	NM_006612.6(KIF1C):c.799-59G>A	KIF1C, LOC126862472	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 682850	NM_006612.6(KIF1C):c.799-43G>A	KIF1C, LOC126862472	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 514053	NM_006612.6(KIF1C):c.799-19A>G	LOC126862472, KIF1C	Single nucleotide variant (intron variant)	Spastic ataxia 2 +1 more	GLikely benign
Select item 425119	NM_006612.6(KIF1C):c.866A>C (p.Gln289Pro)	LOC126862472, KIF1C (Q289P)	Single nucleotide variant (missense variant)	Spastic ataxia 2 +2 more	GConflicting classifications of pathogenicity
Select item 705424	NM_006612.6(KIF1C):c.885G>A (p.Ser295=)	KIF1C, LOC126862472	Single nucleotide variant (synonymous variant)	Spastic ataxia 2 +2 more	GBenign/Likely benign
Select item 383987	NM_006612.6(KIF1C):c.941-17A>T	KIF1C, LOC126862472	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1803319	NM_006612.5(KIF1C):c.945del	KIF1C, LOC126862472	Deletion	not provided	GPathogenic
Select item 514000	NM_006612.6(KIF1C):c.996C>T (p.Tyr332=)	KIF1C	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 380915	NM_006612.6(KIF1C):c.1019+18A>G	KIF1C	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1296447	NM_006612.6(KIF1C):c.1019+49A>G	KIF1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 383890	NM_006612.6(KIF1C):c.1020-14C>G	KIF1C	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1303279	NM_006612.6(KIF1C):c.1045C>T (p.Arg349Cys)	KIF1C (R349C)	Single nucleotide variant (missense variant)	Spastic ataxia 2 +1 more	GConflicting classifications of pathogenicity
Select item 424675	NM_006612.6(KIF1C):c.1111G>A (p.Ala371Thr)	KIF1C (A371T)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 445377	NM_006612.6(KIF1C):c.1165+4G>A	KIF1C	Single nucleotide variant (intron variant)	Spastic ataxia 2 +2 more	GConflicting classifications of pathogenicity
Select item 1228221	NM_006612.6(KIF1C):c.1165+83G>A	KIF1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1326403	NM_006612.6(KIF1C):c.1166-174G>A	KIF1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212377	NM_006612.6(KIF1C):c.1166-74C>T	KIF1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 468850	NM_006612.6(KIF1C):c.1166-8C>T	KIF1C	Single nucleotide variant (intron variant)	Spastic ataxia 2 +2 more	GBenign
Select item 380883	NM_006612.6(KIF1C):c.1293G>A (p.Thr431=)	KIF1C	Single nucleotide variant (synonymous variant)	Spastic ataxia 2 +3 more	GBenign
Select item 1213119	NM_006612.6(KIF1C):c.1336-26G>A	KIF1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 450099	NM_006612.6(KIF1C):c.1346A>G (p.Lys449Arg)	KIF1C (K449R)	Single nucleotide variant (missense variant)	Spastic ataxia 2 +2 more	GConflicting classifications of pathogenicity
Select item 841377	NM_006612.6(KIF1C):c.1353A>G (p.Ile451Met)	KIF1C (I451M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 385724	NM_006612.6(KIF1C):c.1365C>T (p.Asn455=)	KIF1C	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1200571	NM_006612.6(KIF1C):c.1491+35C>G	KIF1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1241188	NM_006612.6(KIF1C):c.1571+90_1571+99del	KIF1C	Deletion (intron variant)	not provided	GBenign
Select item 1276810	NM_006612.6(KIF1C):c.1572-223_1572-222del	KIF1C	Microsatellite (intron variant)	not provided	GBenign
Select item 1307393	NM_006612.6(KIF1C):c.1607G>C (p.Gly536Ala)	KIF1C (G536A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 387793	NM_006612.6(KIF1C):c.1656A>G (p.Pro552=)	KIF1C	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 388469	NM_006612.6(KIF1C):c.1666+5T>C	KIF1C	Single nucleotide variant (intron variant)	Spastic ataxia 2 +1 more	GConflicting classifications of pathogenicity
Select item 385354	NM_006612.6(KIF1C):c.1666+12G>C	KIF1C	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1230400	NM_006612.6(KIF1C):c.1666+202A>G	KIF1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196048	NM_006612.6(KIF1C):c.1667-99A>G	KIF1C, KIF1C-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1306293	NM_006612.6(KIF1C):c.1684C>T (p.Pro562Ser)	KIF1C, KIF1C-AS1 +1 more (P562S)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 508530	NM_006612.6(KIF1C):c.1704A>T (p.Thr568=)	KIF1C, KIF1C-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 509262	NM_006612.6(KIF1C):c.1750+5A>C	KIF1C, KIF1C-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1237107	NM_006612.6(KIF1C):c.1751-30G>A	KIF1C, LOC126862473	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 421905	NM_006612.6(KIF1C):c.1751-12_1751-10del	KIF1C, LOC126862473	Microsatellite (intron variant)	Spastic ataxia 2 +1 more	GLikely benign
Select item 385057	NM_006612.6(KIF1C):c.1751-7T>A	KIF1C, LOC126862473	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 385064	NM_006612.6(KIF1C):c.1815G>A (p.Leu605=)	KIF1C, LOC126862473	Single nucleotide variant (synonymous variant)	Spastic ataxia 2 +2 more	GBenign/Likely benign
Select item 381280	NM_006612.6(KIF1C):c.1937+11G>T	KIF1C, LOC126862473	Single nucleotide variant (intron variant)	Spastic ataxia 2 +2 more	GBenign
Select item 512495	NM_006612.6(KIF1C):c.1937+14A>C	KIF1C, LOC126862473	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 518111	NM_006612.6(KIF1C):c.1937+19C>T	KIF1C, LOC126862473	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 1243318	NM_006612.6(KIF1C):c.1937+32C>T	LOC126862473, KIF1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 380828	NM_006612.6(KIF1C):c.1938-4C>G	KIF1C, LOC126862473	Single nucleotide variant (intron variant)	Spastic ataxia 2 +2 more	GBenign
Select item 1202414	NM_006612.6(KIF1C):c.2010+22G>A	KIF1C, LOC126862473	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287288	NM_006612.6(KIF1C):c.2010+124A>G	KIF1C, LOC126862473	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262363	NM_006612.6(KIF1C):c.2010+160A>G	KIF1C, LOC126862473	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235592	NM_006612.6(KIF1C):c.2011-191G>A	KIF1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 209166	NM_006612.6(KIF1C):c.2099C>T (p.Pro700Leu)	KIF1C (P700L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 390510	NM_006612.6(KIF1C):c.2105C>T (p.Thr702Ile)	KIF1C (T702I)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +2 more	GBenign/Likely benign
Select item 508474	NM_006612.6(KIF1C):c.2109G>A (p.Thr703=)	KIF1C	Single nucleotide variant (synonymous variant)	Spastic ataxia 2 +1 more	GConflicting classifications of pathogenicity
Select item 3365310	NM_006612.6(KIF1C):c.2279C>G (p.Ala760Gly)	KIF1C (A760G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 387794	NM_006612.6(KIF1C):c.2298C>T (p.His766=)	KIF1C	Single nucleotide variant (synonymous variant)	Spastic ataxia 2 +3 more	GBenign
Select item 424674	NM_006612.6(KIF1C):c.2299G>A (p.Gly767Arg)	KIF1C (G767R)	Single nucleotide variant (missense variant)	Spastic ataxia 2 +2 more	GConflicting classifications of pathogenicity
Select item 390904	NM_006612.6(KIF1C):c.2376C>T (p.Pro792=)	KIF1C	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 468852	NM_006612.6(KIF1C):c.2481G>A (p.Gly827=)	KIF1C	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 432326	NM_006612.6(KIF1C):c.2578G>A (p.Ala860Thr)	KIF1C (A860T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance

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